CleftGeneDB-Search

Gene: BRIP1

Basic information

Tag	Content
Uniprot ID	Q9BX63; A0A024QZ45; Q3MJE2; Q8NCI5;
Entrez ID	83990
Genbank protein ID	EAW51431.1; AAI01475.1; EAW51432.1; EAW51433.1; AAI01473.1; BAC11156.1; EAW51430.1; AAK38111.1;
Genbank nucleotide ID	NM_032043.2
Ensembl protein ID	ENSP00000464654; ENSP00000259008;
Ensembl nucleotide ID	ENSG00000136492
Gene name	Fanconi anemia group J protein
Gene symbol	BRIP1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	25045080
Functional description	DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1.
Sequence	MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA 60 LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG 120 TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV 180 HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK 240 SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME 300 LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ 360 DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD 420 ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM 480 GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ 540 NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF 600 SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL 660 CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV 720 KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI 780 TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG 840 ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT 900 NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS 960 SIISRKEKND PVFLEEAGKA EKIVISRSTS PTFNKQTKRV SWSSFNSLGQ YFTGKIPKAT 1020 PELGSSENSA SSPPRFKTEK MESKTVLPFT DKCESSNLTV NTSFGSCPQS ETIISSLKID 1080 ATLTRKNHSE HPLCSEEALD PDIELSLVSE EDKQSTSNRD FETEAEDESI YFTPELYDPE 1140 DTDEEKNDLA ETDRGNRLAN NSDCILAKDL FEIRTIKEVD SAREVKAEDC IDTKLNGILH 1200 IEESKIDDID GNVKTTWINE LELGKTHEIE IKNFKPSPSK NKGMFPGFK 1249

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1T15
1T29

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	BRIP1		A0A452EU29	Capra hircus	Prediction	More>>
1:1 ortholog	BRIP1	83990	Q9BX63	Homo sapiens	Publication	More>>
1:1 ortholog	Brip1	237911	Q5SXJ3	Mus musculus	Prediction	More>>
1:1 ortholog	BRIP1	454796	H2QDL5	Pan troglodytes	Prediction	More>>
1:1 ortholog	Brip1	360588	A0A0G2K475	Rattus norvegicus	Prediction	More>>
1:1 ortholog	brip1	794038	B7ZDD5	Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000484413	p.Met1Val	missense variant	-	NC_000017.11:g.61861539T>C	ClinVar
RCV000581042	p.Met1Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861539T>G	ClinVar
RCV000571784	p.Met1Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861539T>A	ClinVar
RCV000410570	p.Met1Val	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61861539T>C	ClinVar
RCV000536251	p.Met1Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61861539T>A	ClinVar
RCV000167101	p.Met1Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861539T>C	ClinVar
RCV000474167	p.Met1Val	missense variant	Familial cancer of breast	NC_000017.11:g.61861539T>C	ClinVar
RCV000411221	p.Met1Val	missense variant	Neoplasm of ovary	NC_000017.11:g.61861539T>C	ClinVar
RCV000221782	p.Met1Ter	frameshift	-	NC_000017.11:g.61861539_61861540del	ClinVar
RCV000230644	p.Met1Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61861539_61861540del	ClinVar
RCV000562127	p.Ser2Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861535G>A	ClinVar
rs751194347	p.Ser2Phe	missense variant	-	NC_000017.11:g.61861535G>A	-
RCV000774961	p.Met4Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861530T>A	ClinVar
RCV000467101	p.Met4Val	missense variant	Familial cancer of breast	NC_000017.11:g.61861530T>C	ClinVar
rs1386396228	p.Met4Ile	missense variant	-	NC_000017.11:g.61861528C>T	gnomAD
rs45512093	p.Met4Leu	missense variant	-	NC_000017.11:g.61861530T>A	TOPMed,gnomAD
rs45512093	p.Met4Val	missense variant	-	NC_000017.11:g.61861530T>C	TOPMed,gnomAD
RCV000636072	p.Met4Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61861528C>T	ClinVar
RCV000583347	p.Trp5Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861526C>T	ClinVar
rs1555618738	p.Trp5Ter	stop gained	-	NC_000017.11:g.61861526C>T	-
rs1246321339	p.Glu7Gln	missense variant	-	NC_000017.11:g.61861521C>G	TOPMed
RCV000216493	p.Tyr8Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861516A>T	ClinVar
rs752411477	p.Tyr8Ter	stop gained	-	NC_000017.11:g.61861516A>T	ExAC,gnomAD
RCV000709568	p.Ile10Ter	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61861511del	ClinVar
RCV000166716	p.Ile10Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861511A>G	ClinVar
rs786203418	p.Ile10Thr	missense variant	-	NC_000017.11:g.61861511A>G	TOPMed
rs1555618733	p.Gly12Glu	missense variant	-	NC_000017.11:g.61861505C>T	-
RCV000568790	p.Gly12Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861505C>T	ClinVar
RCV000506482	p.Val13Ala	missense variant	-	NC_000017.11:g.61861502A>G	ClinVar
rs1555618729	p.Val13Ala	missense variant	-	NC_000017.11:g.61861502A>G	-
rs1488264110	p.Val13Met	missense variant	-	NC_000017.11:g.61861503C>T	gnomAD
rs1555618727	p.Lys14Ter	stop gained	-	NC_000017.11:g.61861500T>A	-
RCV000576446	p.Lys14Ter	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61861500T>A	ClinVar
RCV000698912	p.Ile15Val	missense variant	Familial cancer of breast	NC_000017.11:g.61861497T>C	ClinVar
RCV000129220	p.Tyr16Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861493T>C	ClinVar
rs587781387	p.Tyr16Cys	missense variant	-	NC_000017.11:g.61861493T>C	-
rs1415589484	p.Pro18Leu	missense variant	-	NC_000017.11:g.61861487G>A	TOPMed,gnomAD
rs1555618724	p.Pro18Ser	missense variant	-	NC_000017.11:g.61861488G>A	-
RCV000564557	p.Pro18Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861488G>A	ClinVar
RCV000542420	p.Pro18Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61861488G>A	ClinVar
RCV000696136	p.Tyr19Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61861486dup	ClinVar
RCV000217783	p.Tyr19Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861484T>C	ClinVar
rs876660880	p.Tyr19Cys	missense variant	-	NC_000017.11:g.61861484T>C	gnomAD
rs876659588	p.Tyr19Ter	stop gained	-	NC_000017.11:g.61861483A>T	gnomAD
rs1406859817	p.Tyr22Ter	stop gained	-	NC_000017.11:g.61861475dup	TOPMed
RCV000218322	p.Tyr22Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861476A>T	ClinVar
RCV000772477	p.Tyr22Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861475T>C	ClinVar
rs876659008	p.Tyr22Asn	missense variant	-	NC_000017.11:g.61861476A>T	TOPMed
rs1292425366	p.Pro23Leu	missense variant	-	NC_000017.11:g.61861472G>A	gnomAD
RCV000694240	p.Ser24Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61861469G>A	ClinVar
NCI-TCGA novel	p.Gln25Ter	stop gained	-	NC_000017.11:g.61861467G>A	NCI-TCGA
rs1555618704	p.Ala27Ser	missense variant	-	NC_000017.11:g.61861461C>A	-
RCV000663215	p.Ala27Ter	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61861463dup	ClinVar
RCV000772710	p.Ala27Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861463dup	ClinVar
RCV000566279	p.Ala27Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861461C>A	ClinVar
rs1330147176	p.Met28Val	missense variant	-	NC_000017.11:g.61861458T>C	TOPMed
rs786202674	p.Met28Lys	missense variant	-	NC_000017.11:g.61861457A>T	-
RCV000801846	p.Met28Val	missense variant	Familial cancer of breast	NC_000017.11:g.61861458T>C	ClinVar
RCV000165601	p.Met28Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861457A>T	ClinVar
rs1330147176	p.Met28Leu	missense variant	-	NC_000017.11:g.61861458T>A	TOPMed
RCV000636122	p.Met28Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61861458T>A	ClinVar
RCV000561978	p.Met28Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861458T>A	ClinVar
RCV000570506	p.Met28Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861458T>C	ClinVar
RCV000691171	p.Met29Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61861453C>A	ClinVar
RCV000570903	p.Met29Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861453C>A	ClinVar
RCV000570164	p.Met29Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861453C>T	ClinVar
rs769585673	p.Met29Ile	missense variant	-	NC_000017.11:g.61861453C>T	ExAC,gnomAD
rs769585673	p.Met29Ile	missense variant	-	NC_000017.11:g.61861453C>A	ExAC,gnomAD
rs747867580	p.Asn30Asp	missense variant	-	NC_000017.11:g.61861452T>C	ExAC,gnomAD
rs776386693	p.Ile32Phe	missense variant	-	NC_000017.11:g.61859907T>A	ExAC
RCV000580127	p.Ile32Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859907T>C	ClinVar
rs776386693	p.Ile32Val	missense variant	-	NC_000017.11:g.61859907T>C	ExAC
RCV000562728	p.Leu33Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859904G>A	ClinVar
rs772319724	p.Leu33Phe	missense variant	-	NC_000017.11:g.61859904G>A	ExAC,TOPMed,gnomAD
RCV000163702	p.Arg34Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859900C>G	ClinVar
rs786201468	p.Arg34Thr	missense variant	-	NC_000017.11:g.61859900C>G	-
rs876659168	p.Gly35Val	missense variant	-	NC_000017.11:g.61859897C>A	gnomAD
RCV000780049	p.Gly35Val	missense variant	-	NC_000017.11:g.61859897C>A	ClinVar
RCV000217605	p.Gly35Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859897C>G	ClinVar
RCV000636074	p.Gly35Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61859898C>A	ClinVar
rs876659168	p.Gly35Ala	missense variant	-	NC_000017.11:g.61859897C>G	gnomAD
rs373104267	p.Gly35Arg	missense variant	-	NC_000017.11:g.61859898C>T	ESP,ExAC,TOPMed,gnomAD
rs373104267	p.Gly35Ter	stop gained	-	NC_000017.11:g.61859898C>A	ESP,ExAC,TOPMed,gnomAD
RCV000636168	p.Leu36Phe	missense variant	Familial cancer of breast	NC_000017.11:g.61859893T>G	ClinVar
rs1060501767	p.Leu36Ser	missense variant	-	NC_000017.11:g.61859894A>G	-
RCV000215935	p.Leu36Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859893T>G	ClinVar
rs774586397	p.Leu36Phe	missense variant	-	NC_000017.11:g.61859893T>G	ExAC,gnomAD
RCV000460801	p.Leu36Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61859894A>G	ClinVar
RCV000222467	p.Asn37Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859891T>C	ClinVar
RCV000764136	p.Asn37Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61859891T>C	ClinVar
rs1256465650	p.Asn37Asp	missense variant	-	NC_000017.11:g.61859892T>C	TOPMed
rs876659105	p.Asn37Ser	missense variant	-	NC_000017.11:g.61859891T>C	gnomAD
RCV000572926	p.Ser38Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859888C>T	ClinVar
RCV000636102	p.Ser38Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61859888C>T	ClinVar
rs1555618429	p.Ser38Asn	missense variant	-	NC_000017.11:g.61859888C>T	-
COSM6081870	p.Ser38Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61859888C>A	NCI-TCGA Cosmic
rs1555618428	p.Lys39Thr	missense variant	-	NC_000017.11:g.61859885T>G	-
RCV000569770	p.Lys39Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859885T>G	ClinVar
RCV000773114	p.His41Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859880G>A	ClinVar
rs770930270	p.His41Tyr	missense variant	-	NC_000017.11:g.61859880G>A	ExAC,gnomAD
rs1253714284	p.His41Arg	missense variant	-	NC_000017.11:g.61859879T>C	gnomAD
RCV000561259	p.Cys42Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859876C>T	ClinVar
RCV000691506	p.Cys42Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61859877A>G	ClinVar
rs1555618423	p.Cys42Tyr	missense variant	-	NC_000017.11:g.61859876C>T	-
RCV000704979	p.Cys42Phe	missense variant	Familial cancer of breast	NC_000017.11:g.61859876C>A	ClinVar
rs587781292	p.Glu45Ter	stop gained	-	NC_000017.11:g.61859868C>A	ExAC,TOPMed,gnomAD
rs587781292	p.Glu45Lys	missense variant	-	NC_000017.11:g.61859868C>T	ExAC,TOPMed,gnomAD
RCV000686973	p.Glu45Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61859868C>T	ClinVar
RCV000482088	p.Glu45Ter	nonsense	-	NC_000017.11:g.61859868C>A	ClinVar
RCV000662599	p.Glu45Ter	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61859868C>A	ClinVar
RCV000222594	p.Glu45Lys	missense variant	-	NC_000017.11:g.61859868C>T	ClinVar
RCV000582447	p.Glu45Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859868C>T	ClinVar
RCV000128992	p.Glu45Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859868C>A	ClinVar
RCV000196974	p.Glu45Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61859868C>A	ClinVar
RCV000703709	p.Ser46Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61859864C>T	ClinVar
NCI-TCGA novel	p.Ser46Gly	missense variant	-	NC_000017.11:g.61859865T>C	NCI-TCGA
RCV000587908	p.Pro47Ala	missense variant	-	NC_000017.11:g.61859862G>C	ClinVar
RCV000410864	p.Pro47Ala	missense variant	Neoplasm of ovary	NC_000017.11:g.61859862G>C	ClinVar
RCV000005002	p.Pro47Ala	missense variant	Breast cancer, early-onset	NC_000017.11:g.61859862G>C	ClinVar
rs28903098	p.Pro47Thr	missense variant	-	NC_000017.11:g.61859862G>T	ESP,ExAC,TOPMed,gnomAD
RCV000216538	p.Pro47Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859862G>T	ClinVar
RCV000200979	p.Pro47Ala	missense variant	-	NC_000017.11:g.61859862G>C	ClinVar
RCV000778130	p.Pro47Ala	missense variant	BRIP1-Related Disorders	NC_000017.11:g.61859862G>C	ClinVar
RCV000199377	p.Pro47Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61859862G>C	ClinVar
RCV000409748	p.Pro47Ala	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61859862G>C	ClinVar
rs28903098	p.Pro47Ala	missense variant	-	NC_000017.11:g.61859862G>C	ESP,ExAC,TOPMed,gnomAD
rs28903098	p.Pro47Ala	missense variant	Breast cancer (BC)	NC_000017.11:g.61859862G>C	UniProt,dbSNP
VAR_020896	p.Pro47Ala	missense variant	Breast cancer (BC)	NC_000017.11:g.61859862G>C	UniProt
RCV000160330	p.Pro47Thr	missense variant	-	NC_000017.11:g.61859862G>T	ClinVar
COSM3890100	p.Pro47Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61859861G>A	NCI-TCGA Cosmic
RCV000698138	p.Thr48Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61859858G>T	ClinVar
RCV000584278	p.Thr48Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859858G>T	ClinVar
RCV000216242	p.Thr48Lys	missense variant	-	NC_000017.11:g.61859858G>T	ClinVar
rs755317452	p.Thr48Lys	missense variant	-	NC_000017.11:g.61859858G>T	ExAC,gnomAD
RCV000130549	p.Thr48Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859862del	ClinVar
RCV000536840	p.Thr48Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61859862del	ClinVar
RCV000657235	p.Thr48Ter	frameshift	-	NC_000017.11:g.61859862del	ClinVar
NCI-TCGA novel	p.Gly49Ter	stop gained	-	NC_000017.11:g.61859856C>A	NCI-TCGA
RCV000487123	p.Ser50Asn	missense variant	-	NC_000017.11:g.61859852C>T	ClinVar
rs1064793071	p.Ser50Asn	missense variant	-	NC_000017.11:g.61859852C>T	-
rs751182362	p.Ser53Ile	missense variant	-	NC_000017.11:g.61859843C>A	ExAC,gnomAD
rs786202417	p.Ser53Ile	missense variant	-	NC_000017.11:g.61859842_61859843delinsAA	-
RCV000459006	p.Ser53Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61859842_61859843delinsAA	ClinVar
RCV000165219	p.Ser53Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859842_61859843delinsAA	ClinVar
rs1461022839	p.Leu54Val	missense variant	-	NC_000017.11:g.61859841A>C	TOPMed
rs757909937	p.Ala55Thr	missense variant	-	NC_000017.11:g.61859838C>T	ExAC,TOPMed,gnomAD
rs1435822764	p.Leu57Arg	missense variant	-	NC_000017.11:g.61859831A>C	TOPMed
RCV000575988	p.Cys58Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859828C>T	ClinVar
RCV000475170	p.Cys58Tyr	missense variant	Familial cancer of breast	NC_000017.11:g.61859828C>T	ClinVar
rs749920386	p.Cys58Tyr	missense variant	-	NC_000017.11:g.61859828C>T	ExAC,TOPMed,gnomAD
rs1555618394	p.Ala60Thr	missense variant	-	NC_000017.11:g.61859823C>T	-
RCV000636093	p.Ala60Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61859823C>T	ClinVar
rs765205377	p.Leu61Val	missense variant	-	NC_000017.11:g.61859820A>C	ExAC,TOPMed,gnomAD
RCV000705060	p.Leu61Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61859819A>G	ClinVar
RCV000541366	p.Ala62Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61859817C>T	ClinVar
RCV000165899	p.Ala62Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859817C>A	ClinVar
rs786202861	p.Ala62Thr	missense variant	-	NC_000017.11:g.61859817C>T	-
rs786202861	p.Ala62Ser	missense variant	-	NC_000017.11:g.61859817C>A	-
RCV000579786	p.Gln65Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859807T>C	ClinVar
RCV000588194	p.Gln65Ter	nonsense	Hereditary breast and ovarian cancer syndrome (HBOC)	NC_000017.11:g.61859808G>A	ClinVar
rs575595017	p.Gln65Ter	stop gained	-	NC_000017.11:g.61859808G>A	1000Genomes,ExAC,gnomAD
rs1555618377	p.Gln65Arg	missense variant	-	NC_000017.11:g.61859807T>C	-
RCV000549682	p.Ser68Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61859800_61859801dup	ClinVar
RCV000549099	p.Gly69Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61859796C>T	ClinVar
rs372581879	p.Gly69Arg	missense variant	-	NC_000017.11:g.61859796C>T	ESP,TOPMed
RCV000586010	p.Gly69Arg	missense variant	-	NC_000017.11:g.61859796C>T	ClinVar
RCV000223223	p.Gly69Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859796C>T	ClinVar
rs957072709	p.Lys70Thr	missense variant	-	NC_000017.11:g.61857228T>G	TOPMed
RCV000636155	p.Lys70Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61857229del	ClinVar
RCV000580217	p.Lys70Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857228T>G	ClinVar
RCV000705430	p.Lys70Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61857228T>G	ClinVar
rs876659680	p.Pro71Ser	missense variant	-	NC_000017.11:g.61857226G>A	gnomAD
RCV000217208	p.Pro71Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857226G>A	ClinVar
rs779629295	p.Pro71Leu	missense variant	-	NC_000017.11:g.61857225G>A	ExAC,gnomAD
RCV000564499	p.Ala72Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857223C>T	ClinVar
rs1357919929	p.Ala72Thr	missense variant	-	NC_000017.11:g.61857223C>T	gnomAD
RCV000793926	p.Ala72Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61857223C>T	ClinVar
rs1317680188	p.Gly75Ser	missense variant	-	NC_000017.11:g.61857214C>T	gnomAD
RCV000473938	p.Val76Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61857211C>T	ClinVar
rs769573395	p.Val76Ile	missense variant	-	NC_000017.11:g.61857211C>T	TOPMed,gnomAD
rs1327144251	p.Ala80Asp	missense variant	-	NC_000017.11:g.61857198G>T	gnomAD
rs1397368808	p.Glu81Lys	missense variant	-	NC_000017.11:g.61857196C>T	gnomAD
RCV000780064	p.Glu81Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61857196del	ClinVar
rs565078834	p.Val82Leu	missense variant	-	NC_000017.11:g.61857193C>A	1000Genomes,ExAC,gnomAD
RCV000221344	p.Val82Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857192A>T	ClinVar
rs565078834	p.Val82Ile	missense variant	-	NC_000017.11:g.61857193C>T	1000Genomes,ExAC,gnomAD
rs876659594	p.Val82Glu	missense variant	-	NC_000017.11:g.61857192A>T	-
RCV000484917	p.Val82Ter	frameshift	-	NC_000017.11:g.61857195del	ClinVar
RCV000804981	p.Val82Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61857195del	ClinVar
rs1383287302	p.Gln83Pro	missense variant	-	NC_000017.11:g.61857189T>G	gnomAD
rs756707967	p.Gln83Ter	stop gained	-	NC_000017.11:g.61857190G>A	ExAC
COSM1133499	p.Leu84Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61857187A>T	NCI-TCGA Cosmic
RCV000484594	p.Ser85Leu	missense variant	-	NC_000017.11:g.61857183G>A	ClinVar
RCV000662486	p.Ser85Leu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61857183G>A	ClinVar
RCV000198791	p.Ser85Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61857183G>A	ClinVar
RCV000130117	p.Ser85Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857183G>A	ClinVar
rs587781830	p.Ser85Leu	missense variant	-	NC_000017.11:g.61857183G>A	TOPMed,gnomAD
rs1555617900	p.Cys86Gly	missense variant	-	NC_000017.11:g.61857181A>C	-
rs1323005329	p.Cys86Tyr	missense variant	-	NC_000017.11:g.61857180C>T	gnomAD
rs1555617900	p.Cys86Arg	missense variant	-	NC_000017.11:g.61857181A>G	-
RCV000544893	p.Cys86Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61857181A>G	ClinVar
RCV000582528	p.Cys86Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857181A>C	ClinVar
rs863224800	p.Cys87Ser	missense variant	-	NC_000017.11:g.61857177C>G	-
RCV000564994	p.Cys87Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857178A>T	ClinVar
RCV000200543	p.Cys87Tyr	missense variant	Familial cancer of breast	NC_000017.11:g.61857177C>T	ClinVar
RCV000197005	p.Cys87Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61857177C>G	ClinVar
RCV000802648	p.Cys87Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61857178A>T	ClinVar
rs863224800	p.Cys87Tyr	missense variant	-	NC_000017.11:g.61857177C>T	-
rs1555617897	p.Cys87Ser	missense variant	-	NC_000017.11:g.61857178A>T	-
rs1555617890	p.Cys88Gly	missense variant	-	NC_000017.11:g.61857175A>C	-
RCV000636078	p.Cys88Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61857175A>C	ClinVar
rs1555617884	p.Ala89Thr	missense variant	-	NC_000017.11:g.61857172C>T	-
rs1349422972	p.Ala89Gly	missense variant	-	NC_000017.11:g.61857171G>C	TOPMed
RCV000558834	p.Ala89Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61857172C>T	ClinVar
RCV000709566	p.Ala89Gly	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61857171G>C	ClinVar
NCI-TCGA novel	p.Ala89Ser	missense variant	-	NC_000017.11:g.61857172C>A	NCI-TCGA
rs1221074399	p.Cys90Tyr	missense variant	-	NC_000017.11:g.61857168C>T	gnomAD
rs1250665493	p.Cys90Arg	missense variant	-	NC_000017.11:g.61857169A>G	gnomAD
rs1060501740	p.Cys90Ter	stop gained	-	NC_000017.11:g.61857167G>T	-
RCV000460420	p.Cys90Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61857167G>T	ClinVar
rs755930156	p.Ser92Pro	missense variant	-	NC_000017.11:g.61857163A>G	ExAC,gnomAD
RCV000197173	p.Asp94Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61857156T>C	ClinVar
RCV000580165	p.Asp94Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857156T>C	ClinVar
rs529201896	p.Asp94Gly	missense variant	-	NC_000017.11:g.61857156T>C	ExAC,gnomAD
rs766561078	p.Asn97Lys	missense variant	-	NC_000017.11:g.61857146G>C	ExAC,gnomAD
rs781121675	p.Asn98Ser	missense variant	-	NC_000017.11:g.61857144T>C	ExAC,TOPMed,gnomAD
RCV000567628	p.Asn98Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857144T>C	ClinVar
RCV000478530	p.Asn98Ser	missense variant	-	NC_000017.11:g.61857144T>C	ClinVar
RCV000206440	p.Asn98Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61857144T>C	ClinVar
RCV000707118	p.Asn98Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61857143A>C	ClinVar
RCV000478481	p.Asp99Ala	missense variant	-	NC_000017.11:g.61857141T>G	ClinVar
rs773532701	p.Asp99Val	missense variant	-	NC_000017.11:g.61857141T>A	ExAC,gnomAD
RCV000708606	p.Asp99Ter	nonsense	-	NC_000017.11:g.61857139del	ClinVar
rs773532701	p.Asp99Ala	missense variant	-	NC_000017.11:g.61857141T>G	ExAC,gnomAD
rs587782427	p.Met100Thr	missense variant	-	NC_000017.11:g.61857138A>G	ExAC,gnomAD
RCV000460063	p.Met100Thr	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61857138A>G	ClinVar
RCV000663002	p.Met100Thr	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61857138A>G	ClinVar
RCV000131481	p.Met100Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857138A>G	ClinVar
rs1425170841	p.Asn101Lys	missense variant	-	NC_000017.11:g.61857134G>T	TOPMed,gnomAD
RCV000566912	p.Gln102Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857132T>C	ClinVar
rs1484234707	p.Gln102Arg	missense variant	-	NC_000017.11:g.61857132T>C	TOPMed
RCV000636126	p.Gln102Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61857132T>C	ClinVar
RCV000657701	p.Gly103Ter	nonsense	-	NC_000017.11:g.61857130C>A	ClinVar
RCV000561824	p.Gly103Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857130del	ClinVar
rs777068696	p.Gly103Arg	missense variant	-	NC_000017.11:g.61857130C>T	ExAC,gnomAD
RCV000636148	p.Gly103Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61857130C>T	ClinVar
rs777068696	p.Gly103Ter	stop gained	-	NC_000017.11:g.61857130C>A	ExAC,gnomAD
RCV000222811	p.Thr104Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857126G>A	ClinVar
rs876659500	p.Thr104Ile	missense variant	-	NC_000017.11:g.61857126G>A	-
rs1555617829	p.Ser105Ter	stop gained	-	NC_000017.11:g.61857123G>C	-
RCV000571146	p.Ser105Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857123G>C	ClinVar
RCV000780051	p.Arg106Cys	missense variant	-	NC_000017.11:g.61857121G>A	ClinVar
RCV000216303	p.Arg106Ser	missense variant	-	NC_000017.11:g.61857121G>T	ClinVar
rs587780247	p.Arg106Ser	missense variant	-	NC_000017.11:g.61857121G>T	ExAC,TOPMed,gnomAD
rs143615668	p.Arg106His	missense variant	-	NC_000017.11:g.61857120C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs587780247	p.Arg106Cys	missense variant	-	NC_000017.11:g.61857121G>A	ExAC,TOPMed,gnomAD
RCV000197570	p.Arg106His	missense variant	Familial cancer of breast	NC_000017.11:g.61857120C>T	ClinVar
RCV000526478	p.Arg106Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61857121G>T	ClinVar
RCV000588637	p.Arg106His	missense variant	-	NC_000017.11:g.61857120C>T	ClinVar
RCV000220020	p.Arg106His	missense variant	-	NC_000017.11:g.61857120C>T	ClinVar
rs876659809	p.His107Arg	missense variant	-	NC_000017.11:g.61857117T>C	TOPMed
RCV000221098	p.His107Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857117T>G	ClinVar
rs876659809	p.His107Pro	missense variant	-	NC_000017.11:g.61857117T>G	TOPMed
COSM1589082	p.Phe108Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61857114A>G	NCI-TCGA Cosmic
RCV000213770	p.Asn109Ser	missense variant	-	NC_000017.11:g.61857111T>C	ClinVar
rs587782734	p.Asn109Ser	missense variant	-	NC_000017.11:g.61857111T>C	ExAC,gnomAD
RCV000687515	p.Asn109Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61857111T>C	ClinVar
RCV000132232	p.Asn109Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857111T>C	ClinVar
RCV000709565	p.Asn109Ser	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61857111T>C	ClinVar
RCV000529399	p.Tyr110His	missense variant	Familial cancer of breast	NC_000017.11:g.61857109A>G	ClinVar
rs1555617821	p.Tyr110His	missense variant	-	NC_000017.11:g.61857109A>G	-
rs1555617818	p.Tyr110Cys	missense variant	-	NC_000017.11:g.61857108T>C	-
RCV000581815	p.Tyr110Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857108T>C	ClinVar
NCI-TCGA novel	p.Tyr110Phe	missense variant	-	NC_000017.11:g.61857108T>A	NCI-TCGA
RCV000222664	p.Pro111Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857105G>T	ClinVar
RCV000226236	p.Pro111Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61857105G>T	ClinVar
RCV000160339	p.Pro111Gln	missense variant	-	NC_000017.11:g.61857105G>T	ClinVar
rs201790351	p.Pro111Gln	missense variant	-	NC_000017.11:g.61857105G>T	1000Genomes,TOPMed
rs1200837936	p.Pro111Ser	missense variant	-	NC_000017.11:g.61857106G>A	gnomAD
rs1555617813	p.Ser112Asn	missense variant	-	NC_000017.11:g.61857102C>T	-
RCV000636103	p.Ser112Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61857102C>T	ClinVar
RCV000535510	p.Thr113Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61857099G>A	ClinVar
RCV000571933	p.Thr113Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857099G>A	ClinVar
RCV000568848	p.Thr113Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857100T>G	ClinVar
rs778480809	p.Thr113Ile	missense variant	-	NC_000017.11:g.61857099G>A	ExAC,TOPMed,gnomAD
rs1555617812	p.Thr113Pro	missense variant	-	NC_000017.11:g.61857100T>G	-
rs876658965	p.Pro114Gln	missense variant	-	NC_000017.11:g.61857096G>T	gnomAD
RCV000219242	p.Pro114Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857096G>A	ClinVar
RCV000466721	p.Pro114Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61857096G>T	ClinVar
rs876658965	p.Pro114Leu	missense variant	-	NC_000017.11:g.61857096G>A	gnomAD
RCV000573255	p.Pro115Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857093G>A	ClinVar
RCV000781173	p.Pro115Ser	missense variant	-	NC_000017.11:g.61857094G>A	ClinVar
RCV000636083	p.Pro115Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61857094G>A	ClinVar
RCV000771450	p.Pro115His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857093G>T	ClinVar
RCV000219689	p.Pro115Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857094G>A	ClinVar
rs1555617800	p.Pro115Leu	missense variant	-	NC_000017.11:g.61857093G>A	-
rs876659142	p.Pro115Ser	missense variant	-	NC_000017.11:g.61857094G>A	-
RCV000167086	p.Ser116Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857090G>C	ClinVar
RCV000814712	p.Ser116Cys	missense variant	Familial cancer of breast	NC_000017.11:g.61857090G>C	ClinVar
rs748793974	p.Ser116Cys	missense variant	-	NC_000017.11:g.61857090G>C	ExAC,TOPMed,gnomAD
rs748793974	p.Ser116Phe	missense variant	-	NC_000017.11:g.61857090G>A	ExAC,TOPMed,gnomAD
rs786203890	p.Glu117Ter	stop gained	-	NC_000017.11:g.61857088C>A	-
RCV000167391	p.Glu117Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857088C>A	ClinVar
RCV000229479	p.Asn119Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61857080A>T	ClinVar
rs889877039	p.Asn119Ser	missense variant	-	NC_000017.11:g.61857081T>C	TOPMed
rs786202477	p.Asn119Lys	missense variant	-	NC_000017.11:g.61857080A>T	TOPMed
RCV000539870	p.Asn119Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61857081T>C	ClinVar
RCV000572830	p.Asn119Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857081T>C	ClinVar
RCV000532063	p.Gly120Asp	missense variant	Familial cancer of breast	NC_000017.11:g.61857078C>T	ClinVar
RCV000160340	p.Gly120Asp	missense variant	-	NC_000017.11:g.61857078C>T	ClinVar
RCV000581551	p.Gly120Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857078C>T	ClinVar
rs730881637	p.Gly120Asp	missense variant	-	NC_000017.11:g.61857078C>T	gnomAD
RCV000705215	p.Thr121Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61857075G>C	ClinVar
RCV000797303	p.Thr121Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61857076T>C	ClinVar
RCV000216740	p.Thr121Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857075G>C	ClinVar
RCV000777494	p.Thr121Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857076T>C	ClinVar
RCV000699626	p.Thr121Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61857076_61857079dup	ClinVar
rs777630298	p.Thr121Ser	missense variant	-	NC_000017.11:g.61857075G>C	ExAC,TOPMed,gnomAD
RCV000552732	p.Ser122Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61857073A>C	ClinVar
rs1555617788	p.Ser122Ala	missense variant	-	NC_000017.11:g.61857073A>C	-
COSM1710584	p.Ser123Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61857069G>A	NCI-TCGA Cosmic
rs45617634	p.Thr124Pro	missense variant	-	NC_000017.11:g.61857067T>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000165248	p.Thr124Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857067T>G	ClinVar
RCV000460048	p.Thr124Pro	missense variant	Familial cancer of breast	NC_000017.11:g.61857067T>G	ClinVar
RCV000409265	p.Thr124Ala	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61857067T>C	ClinVar
RCV000212299	p.Thr124Ala	missense variant	-	NC_000017.11:g.61857067T>C	ClinVar
RCV000410368	p.Thr124Ala	missense variant	Neoplasm of ovary	NC_000017.11:g.61857067T>C	ClinVar
rs45617634	p.Thr124Ala	missense variant	-	NC_000017.11:g.61857067T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000205266	p.Thr124Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61857067T>C	ClinVar
RCV000160363	p.Thr124Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857067T>C	ClinVar
RCV000792628	p.Cys125Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61857063C>G	ClinVar
RCV000216937	p.Cys125Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857063C>G	ClinVar
rs876660020	p.Cys125Ser	missense variant	-	NC_000017.11:g.61857063C>G	-
NCI-TCGA novel	p.Gln126Ter	stop gained	-	NC_000017.11:g.61857061G>A	NCI-TCGA
rs1170174893	p.Asp127Gly	missense variant	-	NC_000017.11:g.61849256T>C	TOPMed,gnomAD
rs1311206718	p.Asp127Asn	missense variant	-	NC_000017.11:g.61857058C>T	TOPMed
RCV000580227	p.Asp127Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857058C>T	ClinVar
RCV000536304	p.Pro129Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61849251G>A	ClinVar
RCV000221096	p.Pro129Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849253del	ClinVar
RCV000213973	p.Pro129Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849250G>A	ClinVar
rs587780831	p.Pro129Arg	missense variant	-	NC_000017.11:g.61849250G>C	ExAC,TOPMed,gnomAD
rs1555616229	p.Pro129Ser	missense variant	-	NC_000017.11:g.61849251G>A	-
RCV000484573	p.Pro129Leu	missense variant	-	NC_000017.11:g.61849250G>A	ClinVar
RCV000123359	p.Pro129Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61849250G>A	ClinVar
RCV000583933	p.Pro129Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849250G>C	ClinVar
rs587780831	p.Pro129Leu	missense variant	-	NC_000017.11:g.61849250G>A	ExAC,TOPMed,gnomAD
RCV000218899	p.Glu130Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849248C>T	ClinVar
rs876658860	p.Glu130Lys	missense variant	-	NC_000017.11:g.61849248C>T	gnomAD
RCV000212300	p.Thr132Ser	missense variant	-	NC_000017.11:g.61849242T>A	ClinVar
rs730881623	p.Thr132Ser	missense variant	-	NC_000017.11:g.61849242T>A	ExAC,TOPMed,gnomAD
RCV000160320	p.Thr132Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849242T>A	ClinVar
RCV000167936	p.Thr132Ser	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61849242T>A	ClinVar
RCV000662866	p.Thr132Ser	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61849242T>A	ClinVar
RCV000636112	p.Thr132Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61849247dup	ClinVar
rs753965650	p.Thr132Asn	missense variant	-	NC_000017.11:g.61849241G>T	ExAC
NCI-TCGA novel	p.Thr132Pro	missense variant	-	NC_000017.11:g.61849242T>G	NCI-TCGA
rs753965650	p.Thr132Asn	missense variant	-	NC_000017.11:g.61849241G>T	NCI-TCGA
RCV000129282	p.Thr132Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849247dup	ClinVar
RCV000570140	p.Thr133Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849239T>A	ClinVar
RCV000525072	p.Thr133Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61849239T>A	ClinVar
rs764256720	p.Thr133Ser	missense variant	-	NC_000017.11:g.61849239T>A	ExAC,gnomAD
RCV000565228	p.Thr133Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849237_61849241del	ClinVar
NCI-TCGA novel	p.Thr133Pro	missense variant	-	NC_000017.11:g.61849239T>G	NCI-TCGA
RCV000463838	p.Leu134Met	missense variant	Familial cancer of breast	NC_000017.11:g.61849236G>T	ClinVar
RCV000221937	p.Leu134Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849236G>T	ClinVar
rs876658195	p.Leu134Met	missense variant	-	NC_000017.11:g.61849236G>T	TOPMed
COSM3820131	p.Leu134Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61849236G>C	NCI-TCGA Cosmic
rs1295736478	p.Ala135Gly	missense variant	-	NC_000017.11:g.61849232G>C	TOPMed
rs878855157	p.Lys137Glu	missense variant	-	NC_000017.11:g.61849227T>C	TOPMed
RCV000227127	p.Lys137Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61849227T>C	ClinVar
RCV000576071	p.Lys137Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849227T>C	ClinVar
RCV000439831	p.Lys137Ter	frameshift	-	NC_000017.11:g.61849227_61849228del	ClinVar
RCV000662431	p.Leu138Ser	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61849223A>G	ClinVar
RCV000116160	p.Leu138Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849223A>G	ClinVar
rs587780251	p.Leu138Ser	missense variant	-	NC_000017.11:g.61849223A>G	ExAC,TOPMed,gnomAD
RCV000212301	p.Leu138Ser	missense variant	-	NC_000017.11:g.61849223A>G	ClinVar
RCV000168359	p.Leu138Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61849223A>G	ClinVar
rs202072866	p.Ser139Ala	missense variant	-	NC_000017.11:g.61849221A>C	ExAC,TOPMed,gnomAD
RCV000131152	p.Ser139Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849221A>C	ClinVar
RCV000119157	p.Ser139Ala	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61849221A>C	ClinVar
RCV000589911	p.Ser139Ala	missense variant	-	NC_000017.11:g.61849221A>C	ClinVar
RCV000411415	p.Ser139Ala	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61849221A>C	ClinVar
RCV000412061	p.Ser139Ala	missense variant	Neoplasm of ovary	NC_000017.11:g.61849221A>C	ClinVar
RCV000688486	p.Ser139Phe	missense variant	Familial cancer of breast	NC_000017.11:g.61849220G>A	ClinVar
NCI-TCGA novel	p.Ser139Cys	missense variant	-	NC_000017.11:g.61849220G>C	NCI-TCGA
rs1555616188	p.Lys142Glu	missense variant	-	NC_000017.11:g.61849212T>C	-
RCV000566378	p.Lys142Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849212T>C	ClinVar
RCV000485264	p.Lys142Ter	frameshift	-	NC_000017.11:g.61849207_61849216delinsTTT	ClinVar
RCV000636153	p.Ala144Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61849205G>T	ClinVar
rs116952709	p.Ala144Thr	missense variant	-	NC_000017.11:g.61849206C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1555616182	p.Ala144Glu	missense variant	-	NC_000017.11:g.61849205G>T	-
RCV000313578	p.Ala144Thr	missense variant	Neoplasm of the breast	NC_000017.11:g.61849206C>T	ClinVar
rs774677996	p.Ile146Thr	missense variant	-	NC_000017.11:g.61849199A>G	ExAC,gnomAD
RCV000709563	p.Tyr147His	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61849197A>G	ClinVar
RCV000656708	p.Tyr147Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61849196del	ClinVar
RCV000657825	p.Tyr147Ter	nonsense	-	NC_000017.11:g.61849196dup	ClinVar
RCV000166730	p.Tyr147Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849196_61849198delinsAG	ClinVar
RCV000166862	p.Tyr147Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849196dup	ClinVar
RCV000473245	p.Tyr147Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61849196dup	ClinVar
rs786203521	p.Tyr147Ter	stop gained	-	NC_000017.11:g.61849196dup	-
rs1243511600	p.Arg148Lys	missense variant	-	NC_000017.11:g.61849193C>T	gnomAD
rs770613242	p.Asp149Gly	missense variant	-	NC_000017.11:g.61849190T>C	ExAC,gnomAD
rs762701532	p.Glu150Lys	missense variant	-	NC_000017.11:g.61849188C>T	NCI-TCGA
rs762701532	p.Glu150Lys	missense variant	-	NC_000017.11:g.61849188C>T	ExAC,gnomAD
RCV000636081	p.Glu150Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61849188C>A	ClinVar
rs762701532	p.Glu150Ter	stop gained	-	NC_000017.11:g.61849188C>A	ExAC,gnomAD
RCV000541078	p.Asn151Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61849184T>C	ClinVar
rs1555616165	p.Asn151Ser	missense variant	-	NC_000017.11:g.61849184T>C	-
rs1207857968	p.Asp152His	missense variant	-	NC_000017.11:g.61849182C>G	TOPMed
rs772695469	p.Asp153Asn	missense variant	-	NC_000017.11:g.61849179C>T	ExAC,gnomAD
RCV000771681	p.Asp153Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849178T>C	ClinVar
RCV000583282	p.Gln155Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849172T>G	ClinVar
rs1555616153	p.Gln155Pro	missense variant	-	NC_000017.11:g.61849172T>G	-
RCV000695687	p.Gln155Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61849177dup	ClinVar
RCV000699984	p.Gln155Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61849173G>A	ClinVar
RCV000130041	p.Gln155Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849173G>A	ClinVar
RCV000213568	p.Gln155Ter	nonsense	-	NC_000017.11:g.61849173G>A	ClinVar
rs587781786	p.Gln155Ter	stop gained	-	NC_000017.11:g.61849173G>A	-
RCV000702303	p.Val156Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61849169A>G	ClinVar
RCV000223551	p.Val156Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849170C>T	ClinVar
rs876659373	p.Val156Ile	missense variant	-	NC_000017.11:g.61849170C>T	TOPMed
rs876659373	p.Val156Leu	missense variant	-	NC_000017.11:g.61849170C>A	TOPMed
rs769364081	p.Lys158Thr	missense variant	-	NC_000017.11:g.61849163T>G	ExAC,gnomAD
COSM1303149	p.Lys159Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61849161T>C	NCI-TCGA Cosmic
RCV000545986	p.Arg160Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61849161del	ClinVar
rs1330277587	p.Arg160Thr	missense variant	-	NC_000017.11:g.61849157C>G	gnomAD
rs1330277587	p.Arg160Ile	missense variant	-	NC_000017.11:g.61849157C>A	gnomAD
RCV000562873	p.Arg160Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849157C>A	ClinVar
RCV000679790	p.Arg160Ile	missense variant	-	NC_000017.11:g.61849157C>A	ClinVar
rs1330277587	p.Arg160Ile	missense variant	-	NC_000017.11:g.61849157C>A	NCI-TCGA Cosmic
RCV000549162	p.Ile161Val	missense variant	Familial cancer of breast	NC_000017.11:g.61849155T>C	ClinVar
RCV000759712	p.Ile161Val	missense variant	-	NC_000017.11:g.61849155T>C	ClinVar
RCV000167428	p.Ile161Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849155T>C	ClinVar
rs786203916	p.Ile161Val	missense variant	-	NC_000017.11:g.61849155T>C	-
RCV000484711	p.Arg162Ter	nonsense	-	NC_000017.11:g.61849152G>A	ClinVar
RCV000166003	p.Arg162Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849152G>A	ClinVar
rs61757643	p.Arg162Pro	missense variant	-	NC_000017.11:g.61849151C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000198978	p.Arg162Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61849152G>A	ClinVar
RCV000424619	p.Arg162Gln	missense variant	-	NC_000017.11:g.61849151C>T	ClinVar
RCV000131634	p.Arg162Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849151C>A	ClinVar
RCV000129791	p.Arg162Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849151C>T	ClinVar
rs747604569	p.Arg162Ter	stop gained	-	NC_000017.11:g.61849152G>A	ExAC,TOPMed,gnomAD
rs61757643	p.Arg162Gln	missense variant	-	NC_000017.11:g.61849151C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61757643	p.Arg162Leu	missense variant	-	NC_000017.11:g.61849151C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000662676	p.Arg162Leu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61849151C>A	ClinVar
RCV000562353	p.Arg162Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849151C>G	ClinVar
RCV000466396	p.Arg162Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61849151C>T	ClinVar
RCV000231093	p.Arg162Leu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61849151C>A	ClinVar
RCV000565081	p.Pro163Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849149G>A	ClinVar
RCV000811860	p.Pro163Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61849149G>A	ClinVar
rs1064795902	p.Pro163Ser	missense variant	-	NC_000017.11:g.61849149G>A	-
RCV000483934	p.Pro163Ser	missense variant	-	NC_000017.11:g.61849149G>A	ClinVar
rs780024960	p.Glu165Asp	missense variant	-	NC_000017.11:g.61849141T>G	ExAC,gnomAD
rs1391690780	p.Glu165Gln	missense variant	-	NC_000017.11:g.61849143C>G	gnomAD
RCV000580382	p.Glu165Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849141T>G	ClinVar
RCV000807668	p.Glu165Asp	missense variant	Familial cancer of breast	NC_000017.11:g.61849141T>G	ClinVar
RCV000525279	p.Thr167Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61849136G>A	ClinVar
RCV000561920	p.Thr167Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849136G>A	ClinVar
rs758218234	p.Thr167Ile	missense variant	-	NC_000017.11:g.61849136G>A	ExAC,gnomAD
rs1060501738	p.Thr167Ala	missense variant	-	NC_000017.11:g.61849137T>C	-
RCV000466657	p.Thr167Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61849137T>C	ClinVar
RCV000581000	p.Gln168Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849134G>T	ClinVar
rs748211848	p.Gln168Ter	stop gained	-	NC_000017.11:g.61849134G>A	TOPMed,gnomAD
RCV000702494	p.Gln168Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61849134G>T	ClinVar
rs748211848	p.Gln168Lys	missense variant	-	NC_000017.11:g.61849134G>T	TOPMed,gnomAD
RCV000636164	p.Gln169His	missense variant	Familial cancer of breast	NC_000017.11:g.61849129C>A	ClinVar
rs876660937	p.Gln169His	missense variant	-	NC_000017.11:g.61849129C>A	-
rs1265322103	p.Ile170Ser	missense variant	-	NC_000017.11:g.61847219A>C	TOPMed,gnomAD
rs1372901008	p.Ile170Met	missense variant	-	NC_000017.11:g.61847218A>C	TOPMed
rs1060501765	p.Lys172Glu	missense variant	-	NC_000017.11:g.61847214T>C	-
RCV000775734	p.Lys172Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847214T>C	ClinVar
RCV000464158	p.Lys172Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61847214T>C	ClinVar
rs761432927	p.Arg173His	missense variant	-	NC_000017.11:g.61847210C>T	ExAC,TOPMed,gnomAD
RCV000709562	p.Arg173His	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61847210C>T	ClinVar
RCV000773693	p.Arg173Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847210C>G	ClinVar
RCV000199555	p.Arg173His	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61847210C>T	ClinVar
RCV000166292	p.Arg173His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847210C>T	ClinVar
RCV000123360	p.Arg173Cys	missense variant	Familial cancer of breast	NC_000017.11:g.61847211G>A	ClinVar
rs4988345	p.Arg173Cys	missense variant	-	NC_000017.11:g.61847211G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000233677	p.His174Tyr	missense variant	Familial cancer of breast	NC_000017.11:g.61847208G>A	ClinVar
rs776248182	p.His174Tyr	missense variant	-	NC_000017.11:g.61847208G>A	ExAC,gnomAD
rs546727788	p.Cys175Gly	missense variant	-	NC_000017.11:g.61847205A>C	1000Genomes,ExAC,gnomAD
rs546727788	p.Cys175Ser	missense variant	-	NC_000017.11:g.61847205A>T	1000Genomes,ExAC,gnomAD
RCV000562523	p.Cys175Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847205A>C	ClinVar
rs746963627	p.Phe176Val	missense variant	-	NC_000017.11:g.61847202A>C	ExAC,gnomAD
RCV000555022	p.Thr178Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61847195G>A	ClinVar
RCV000478045	p.Thr178Ile	missense variant	-	NC_000017.11:g.61847195G>A	ClinVar
RCV000219733	p.Thr178Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847195G>A	ClinVar
rs876658780	p.Thr178Ile	missense variant	-	NC_000017.11:g.61847195G>A	gnomAD
rs1555615784	p.Glu179Ter	stop gained	-	NC_000017.11:g.61847193C>A	-
RCV000575600	p.Glu179Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847193C>A	ClinVar
RCV000475128	p.Leu183Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61847182del	ClinVar
RCV000212302	p.Asp184Tyr	missense variant	-	NC_000017.11:g.61847178C>A	ClinVar
RCV000132540	p.Asp184Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847178C>A	ClinVar
RCV000166445	p.Asp184Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847178C>T	ClinVar
RCV000461927	p.Asp184Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61847178C>T	ClinVar
rs201047375	p.Asp184Asn	missense variant	-	NC_000017.11:g.61847178C>T	ESP,ExAC,TOPMed,gnomAD
RCV000168177	p.Asp184Tyr	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61847178C>A	ClinVar
RCV000662870	p.Asp184Tyr	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61847178C>A	ClinVar
rs201047375	p.Asp184Tyr	missense variant	-	NC_000017.11:g.61847178C>A	ESP,ExAC,TOPMed,gnomAD
RCV000471201	p.Ala185Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61847175C>T	ClinVar
rs745645356	p.Ala185Thr	missense variant	-	NC_000017.11:g.61847175C>T	ExAC,gnomAD
RCV000581355	p.Ala185Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847175C>T	ClinVar
RCV000160321	p.Lys186Glu	missense variant	-	NC_000017.11:g.61847172T>C	ClinVar
rs730881624	p.Lys186Glu	missense variant	-	NC_000017.11:g.61847172T>C	-
RCV000223649	p.Val187Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847169C>A	ClinVar
rs876659064	p.Val187Phe	missense variant	-	NC_000017.11:g.61847169C>A	-
RCV000657683	p.Ser189Ter	nonsense	-	NC_000017.11:g.61847162G>C	ClinVar
RCV000772935	p.Ser189Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847162G>A	ClinVar
rs1555615763	p.Ser189Leu	missense variant	-	NC_000017.11:g.61847162G>A	NCI-TCGA
rs1555615763	p.Ser189Ter	stop gained	-	NC_000017.11:g.61847162G>C	-
RCV000458246	p.Gly190Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61847159C>T	ClinVar
rs756269682	p.Gly190Glu	missense variant	-	NC_000017.11:g.61847159C>T	ExAC,gnomAD
rs756269682	p.Gly190Glu	missense variant	-	NC_000017.11:g.61847159C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000777071	p.Lys191Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847155C>A	ClinVar
rs748268716	p.Lys191Arg	missense variant	-	NC_000017.11:g.61847156T>C	ExAC,gnomAD
RCV000804472	p.Thr192Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61847152del	ClinVar
RCV000572207	p.Thr192Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847153G>T	ClinVar
RCV000217247	p.Thr192Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847152del	ClinVar
rs1429063662	p.Thr192Ile	missense variant	-	NC_000017.11:g.61847153G>A	gnomAD
rs1429063662	p.Thr192Asn	missense variant	-	NC_000017.11:g.61847153G>T	gnomAD
rs4988346	p.Val193Ile	missense variant	-	NC_000017.11:g.61847151C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000120406	p.Val193Ile	missense variant	-	NC_000017.11:g.61847151C>T	ClinVar
RCV000759713	p.Val193Ile	missense variant	-	NC_000017.11:g.61847151C>T	ClinVar
RCV000410926	p.Val193Ile	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61847151C>T	ClinVar
RCV000412457	p.Val193Ile	missense variant	Neoplasm of ovary	NC_000017.11:g.61847151C>T	ClinVar
RCV000116161	p.Val193Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847151C>T	ClinVar
RCV000119142	p.Val193Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61847151C>T	ClinVar
rs1555615749	p.Leu195Phe	missense variant	-	NC_000017.11:g.61847145G>A	-
RCV000572875	p.Leu195Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847144_61847145del	ClinVar
RCV000579537	p.Leu195Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847145G>A	ClinVar
RCV000120407	p.Leu195Pro	missense variant	-	NC_000017.11:g.61847144A>G	ClinVar
rs4988347	p.Leu195Pro	missense variant	-	NC_000017.11:g.61847144A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000123361	p.Leu195Pro	missense variant	Familial cancer of breast	NC_000017.11:g.61847144A>G	ClinVar
RCV000116163	p.Asn196Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847141T>C	ClinVar
rs758851721	p.Asn196Lys	missense variant	-	NC_000017.11:g.61847140G>C	ExAC,TOPMed,gnomAD
rs550707862	p.Asn196Ser	missense variant	-	NC_000017.11:g.61847141T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs533184563	p.Ser197Cys	missense variant	-	NC_000017.11:g.61847138G>C	TOPMed,gnomAD
rs530897769	p.Ser197Pro	missense variant	-	NC_000017.11:g.61847139A>G	1000Genomes,ExAC,gnomAD
RCV000219578	p.Ser197Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847138G>C	ClinVar
RCV000825289	p.Ser197Phe	missense variant	-	NC_000017.11:g.61847138G>A	ClinVar
RCV000707127	p.Ser197Tyr	missense variant	Familial cancer of breast	NC_000017.11:g.61847138G>T	ClinVar
RCV000235300	p.Ser197Phe	missense variant	-	NC_000017.11:g.61847138G>A	ClinVar
rs533184563	p.Ser197Tyr	missense variant	-	NC_000017.11:g.61847138G>T	TOPMed,gnomAD
rs533184563	p.Ser197Phe	missense variant	-	NC_000017.11:g.61847138G>A	TOPMed,gnomAD
RCV000198544	p.Ser197Phe	missense variant	Familial cancer of breast	NC_000017.11:g.61847138G>A	ClinVar
RCV000131156	p.Ser197Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847138G>A	ClinVar
RCV000216053	p.Ser197Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847138G>T	ClinVar
rs1555615732	p.Glu200Gly	missense variant	-	NC_000017.11:g.61847129T>C	-
RCV000539257	p.Glu200Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61847129T>C	ClinVar
rs1555615729	p.Lys201Arg	missense variant	-	NC_000017.11:g.61847126T>C	-
RCV000555283	p.Lys201Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61847126T>C	ClinVar
rs1484783363	p.Lys201Glu	missense variant	-	NC_000017.11:g.61847127T>C	gnomAD
rs778275257	p.Ile202Val	missense variant	-	NC_000017.11:g.61847124T>C	TOPMed
RCV000573114	p.Ile202Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847124T>C	ClinVar
RCV000469045	p.Ile202Val	missense variant	Familial cancer of breast	NC_000017.11:g.61847124T>C	ClinVar
rs776372251	p.Ser204Phe	missense variant	-	NC_000017.11:g.61847117G>A	ExAC,TOPMed,gnomAD
RCV000636121	p.Ser204Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61847118A>C	ClinVar
rs761401027	p.Ser204Ala	missense variant	-	NC_000017.11:g.61847118A>C	ExAC,gnomAD
RCV000220255	p.Ser204Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847118A>C	ClinVar
rs565458815	p.Ser206Leu	missense variant	-	NC_000017.11:g.61847111G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000222015	p.Ser206Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847111G>A	ClinVar
rs565458815	p.Ser206Leu	missense variant	-	NC_000017.11:g.61847111G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs775636640	p.Pro207Ser	missense variant	-	NC_000017.11:g.61847109G>A	ExAC,gnomAD
rs1443511163	p.Gln208Glu	missense variant	-	NC_000017.11:g.61847106G>C	TOPMed
RCV000464761	p.Lys209Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61847102T>C	ClinVar
RCV000220042	p.Lys209Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847102T>C	ClinVar
rs748912293	p.Lys209Arg	missense variant	-	NC_000017.11:g.61847102T>C	TOPMed,gnomAD
RCV000465031	p.Pro210His	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808756G>T	ClinVar
RCV000213204	p.Pro210His	missense variant	-	NC_000017.11:g.61808756G>T	ClinVar
rs150313156	p.Pro210Ser	missense variant	-	NC_000017.11:g.61808757G>A	ESP,ExAC,TOPMed,gnomAD
rs140097800	p.Pro210Leu	missense variant	-	NC_000017.11:g.61808756G>A	ESP,ExAC,TOPMed,gnomAD
rs140097800	p.Pro210His	missense variant	-	NC_000017.11:g.61808756G>T	ESP,ExAC,TOPMed,gnomAD
RCV000773238	p.Pro210Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808756G>A	ClinVar
RCV000709560	p.Pro210His	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808756G>T	ClinVar
RCV000214330	p.Pro210His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808756G>T	ClinVar
RCV000590600	p.Pro210Ser	missense variant	-	NC_000017.11:g.61808757G>A	ClinVar
RCV000636068	p.Pro210Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61808756G>A	ClinVar
RCV000463454	p.Pro211Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61808757del	ClinVar
RCV000759714	p.Pro211Leu	missense variant	-	NC_000017.11:g.61808753G>A	ClinVar
RCV000531438	p.Pro211Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61808753G>A	ClinVar
RCV000776532	p.Pro211Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808753G>A	ClinVar
rs780026145	p.Pro211Leu	missense variant	-	NC_000017.11:g.61808753G>A	ExAC,gnomAD
rs1555609387	p.Gly212Ser	missense variant	-	NC_000017.11:g.61808751C>T	-
RCV000706262	p.Gly212Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61808752del	ClinVar
RCV000657273	p.Gly212Ter	frameshift	-	NC_000017.11:g.61808752del	ClinVar
RCV000215252	p.Gly212Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808752del	ClinVar
RCV000584189	p.Gly212Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808751C>T	ClinVar
RCV000657344	p.Gly212Ter	frameshift	-	NC_000017.11:g.61808757dup	ClinVar
rs772140734	p.His213Tyr	missense variant	-	NC_000017.11:g.61808748G>A	ExAC,gnomAD
RCV000166239	p.His213Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808747T>C	ClinVar
RCV000217577	p.His213Arg	missense variant	-	NC_000017.11:g.61808747T>C	ClinVar
rs376760085	p.His213Arg	missense variant	-	NC_000017.11:g.61808747T>C	ESP,ExAC,TOPMed,gnomAD
RCV000205783	p.His213Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61808747T>C	ClinVar
RCV000636165	p.Cys214Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61808744C>G	ClinVar
RCV000575253	p.Cys214Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808744C>G	ClinVar
rs779409059	p.Cys214Ser	missense variant	-	NC_000017.11:g.61808744C>G	ExAC,gnomAD
rs12947398	p.Ser215Tyr	missense variant	-	NC_000017.11:g.61808741G>T	gnomAD
rs12947398	p.Ser215Phe	missense variant	-	NC_000017.11:g.61808741G>A	gnomAD
RCV000216172	p.Ser215Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808741G>A	ClinVar
RCV000464882	p.Ser215Phe	missense variant	Familial cancer of breast	NC_000017.11:g.61808741G>A	ClinVar
rs587782156	p.Cys217Phe	missense variant	-	NC_000017.11:g.61808735C>A	-
RCV000475279	p.Cys217Phe	missense variant	Familial cancer of breast	NC_000017.11:g.61808735C>A	ClinVar
RCV000130737	p.Cys217Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808735C>A	ClinVar
RCV000479866	p.Cys218Tyr	missense variant	-	NC_000017.11:g.61808732C>T	ClinVar
RCV000580267	p.Cys218Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808732C>T	ClinVar
RCV000461921	p.Cys218Tyr	missense variant	Familial cancer of breast	NC_000017.11:g.61808732C>T	ClinVar
rs754242563	p.Cys218Tyr	missense variant	-	NC_000017.11:g.61808732C>T	ExAC,gnomAD
RCV000410746	p.Cys219Arg	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808730A>G	ClinVar
RCV000214329	p.Cys219Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808730A>G	ClinVar
RCV000228414	p.Cys219Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61808730A>G	ClinVar
RCV000160331	p.Cys219Arg	missense variant	-	NC_000017.11:g.61808730A>G	ClinVar
RCV000412358	p.Cys219Arg	missense variant	Neoplasm of ovary	NC_000017.11:g.61808730A>G	ClinVar
RCV000130939	p.Cys219Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808729C>T	ClinVar
rs587782238	p.Cys219Tyr	missense variant	-	NC_000017.11:g.61808729C>T	TOPMed
rs730881630	p.Cys219Arg	missense variant	-	NC_000017.11:g.61808730A>G	TOPMed,gnomAD
rs1555609351	p.Ser220Pro	missense variant	-	NC_000017.11:g.61808727A>G	-
RCV000574313	p.Ser220Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808727A>G	ClinVar
rs1357803255	p.Ser220Phe	missense variant	-	NC_000017.11:g.61808726G>A	gnomAD
rs373774920	p.Thr221Ser	missense variant	-	NC_000017.11:g.61808723G>C	ESP,ExAC,gnomAD
RCV000457055	p.Thr221Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61808724T>C	ClinVar
RCV000563866	p.Thr221Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808724T>C	ClinVar
rs777618772	p.Thr221Ala	missense variant	-	NC_000017.11:g.61808724T>C	ExAC,TOPMed,gnomAD
RCV000167128	p.Gln223Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808717T>C	ClinVar
RCV000164174	p.Gln223Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808718G>A	ClinVar
rs786201733	p.Gln223Ter	stop gained	-	NC_000017.11:g.61808718G>A	-
rs786203708	p.Gln223Arg	missense variant	-	NC_000017.11:g.61808717T>C	TOPMed
RCV000636123	p.Gly224Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61808714C>G	ClinVar
RCV000704993	p.Gly224Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61808715C>G	ClinVar
rs990737815	p.Gly224Ala	missense variant	-	NC_000017.11:g.61808714C>G	gnomAD
RCV000709559	p.Gly224Ala	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808714C>G	ClinVar
NCI-TCGA novel	p.Gly224Ter	stop gained	-	NC_000017.11:g.61808715C>A	NCI-TCGA
RCV000583227	p.Gly224Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808714C>G	ClinVar
RCV000774387	p.Asn225Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808711T>C	ClinVar
RCV000411595	p.Gln227Glu	missense variant	Neoplasm of ovary	NC_000017.11:g.61808706G>C	ClinVar
RCV000410552	p.Gln227Glu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808706G>C	ClinVar
RCV000196200	p.Gln227Glu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808706G>C	ClinVar
rs45459799	p.Gln227Glu	missense variant	-	NC_000017.11:g.61808706G>C	ExAC,TOPMed,gnomAD
COSM1563714	p.Gln227Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.61808706G>A	NCI-TCGA Cosmic
rs759031349	p.Ser230Leu	missense variant	-	NC_000017.11:g.61808696G>A	ExAC,TOPMed,gnomAD
RCV000386668	p.Ser230Leu	missense variant	-	NC_000017.11:g.61808696G>A	ClinVar
RCV000409005	p.Ser230Leu	missense variant	Neoplasm of ovary	NC_000017.11:g.61808696G>A	ClinVar
RCV000411446	p.Ser230Leu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808696G>A	ClinVar
rs759031349	p.Ser230Leu	missense variant	-	NC_000017.11:g.61808696G>A	NCI-TCGA
rs766340391	p.Asn231Asp	missense variant	-	NC_000017.11:g.61808694T>C	ExAC,gnomAD
RCV000774985	p.Asn231Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808693T>C	ClinVar
rs762781085	p.Thr232Ser	missense variant	-	NC_000017.11:g.61808690G>C	ExAC,gnomAD
RCV000781172	p.Ile233Val	missense variant	-	NC_000017.11:g.61808688T>C	ClinVar
RCV000810321	p.Ile233Val	missense variant	Familial cancer of breast	NC_000017.11:g.61808688T>C	ClinVar
RCV000581649	p.Ile233Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808688T>C	ClinVar
rs769535320	p.Ile233Val	missense variant	-	NC_000017.11:g.61808688T>C	ExAC
rs1060501780	p.Lys234Glu	missense variant	-	NC_000017.11:g.61808685T>C	-
rs587780834	p.Lys234Arg	missense variant	-	NC_000017.11:g.61808684T>C	-
RCV000123364	p.Lys234Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61808684T>C	ClinVar
RCV000471622	p.Lys234Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61808685T>C	ClinVar
rs1555609300	p.Asp236His	missense variant	-	NC_000017.11:g.61808679C>G	-
RCV000696777	p.Asp236Val	missense variant	Familial cancer of breast	NC_000017.11:g.61808678T>A	ClinVar
RCV000636145	p.Asp236His	missense variant	Familial cancer of breast	NC_000017.11:g.61808679C>G	ClinVar
RCV000777338	p.His237Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808675T>C	ClinVar
RCV000568156	p.His237Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808677dup	ClinVar
RCV000567919	p.Thr238Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808672G>A	ClinVar
RCV000636118	p.Thr238Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61808673T>C	ClinVar
rs1490001091	p.Thr238Ala	missense variant	-	NC_000017.11:g.61808673T>C	TOPMed,gnomAD
rs745955726	p.Thr238Ile	missense variant	-	NC_000017.11:g.61808672G>A	ExAC,gnomAD
rs1490001091	p.Thr238Pro	missense variant	-	NC_000017.11:g.61808673T>G	TOPMed,gnomAD
RCV000777190	p.Thr238Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808673T>G	ClinVar
RCV000532810	p.Thr238Pro	missense variant	Familial cancer of breast	NC_000017.11:g.61808673T>G	ClinVar
rs745955726	p.Thr238Ile	missense variant	-	NC_000017.11:g.61808672G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1350322711	p.Lys240Thr	missense variant	-	NC_000017.11:g.61808666T>G	gnomAD
RCV000709558	p.Lys240Ter	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808667del	ClinVar
RCV000561737	p.Ser241Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808664A>G	ClinVar
rs771542690	p.Ser241Pro	missense variant	-	NC_000017.11:g.61808664A>G	ExAC,gnomAD
RCV000222563	p.Lys242Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808660T>C	ClinVar
RCV000545432	p.Lys242Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61808660T>C	ClinVar
rs876660647	p.Lys242Arg	missense variant	-	NC_000017.11:g.61808660T>C	-
rs587781860	p.Ile243Thr	missense variant	-	NC_000017.11:g.61808657A>G	ExAC,TOPMed,gnomAD
RCV000473070	p.Ile243Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61808657A>G	ClinVar
RCV000709557	p.Ile243Thr	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808657A>G	ClinVar
RCV000484934	p.Ile243Thr	missense variant	-	NC_000017.11:g.61808657A>G	ClinVar
rs1064795594	p.Lys245Arg	missense variant	-	NC_000017.11:g.61808651T>C	-
RCV000480350	p.Lys245Arg	missense variant	-	NC_000017.11:g.61808651T>C	ClinVar
RCV000580310	p.Ile246Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808649T>C	ClinVar
rs376893571	p.Ile246Val	missense variant	-	NC_000017.11:g.61808649T>C	ESP,ExAC,TOPMed,gnomAD
RCV000759716	p.Ile246Val	missense variant	-	NC_000017.11:g.61808649T>C	ClinVar
RCV000534123	p.Ile246Val	missense variant	Familial cancer of breast	NC_000017.11:g.61808649T>C	ClinVar
rs756499865	p.Tyr247Cys	missense variant	-	NC_000017.11:g.61808645T>C	ExAC,gnomAD
RCV000568986	p.Thr250Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808636G>C	ClinVar
RCV000777113	p.Thr250Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808636G>A	ClinVar
RCV000708607	p.Thr250Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808640del	ClinVar
RCV000550168	p.Thr250Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61808636G>C	ClinVar
rs1555609275	p.Thr250Arg	missense variant	-	NC_000017.11:g.61808636G>C	-
rs752309409	p.Arg251Cys	missense variant	-	NC_000017.11:g.61808634G>A	ExAC,TOPMed,gnomAD
RCV000222495	p.Arg251His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808633C>T	ClinVar
RCV000662796	p.Arg251Cys	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808634G>A	ClinVar
RCV000206065	p.Arg251Cys	missense variant	Familial cancer of breast	NC_000017.11:g.61808634G>A	ClinVar
RCV000280552	p.Arg251His	missense variant	-	NC_000017.11:g.61808633C>T	ClinVar
RCV000558153	p.Arg251Pro	missense variant	Familial cancer of breast	NC_000017.11:g.61808633C>G	ClinVar
RCV000692424	p.Arg251His	missense variant	Familial cancer of breast	NC_000017.11:g.61808633C>T	ClinVar
rs780834054	p.Arg251His	missense variant	-	NC_000017.11:g.61808633C>T	ExAC,TOPMed,gnomAD
rs780834054	p.Arg251Pro	missense variant	-	NC_000017.11:g.61808633C>G	ExAC,TOPMed,gnomAD
rs780834054	p.Arg251His	missense variant	-	NC_000017.11:g.61808633C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000690782	p.Thr252Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61808630G>A	ClinVar
RCV000772461	p.Thr252Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808631T>C	ClinVar
rs1156469750	p.Lys254Glu	missense variant	-	NC_000017.11:g.61808625T>C	gnomAD
RCV000771405	p.Gln255Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808621T>C	ClinVar
RCV000695058	p.Gln255Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61808621T>C	ClinVar
VAR_023700	p.Gln255His	Missense	Fanconi anemia complementation group J (FANCJ) [MIM:609054]	-	UniProt
RCV000562513	p.Ala257Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808615G>C	ClinVar
rs754515912	p.Ala257Ser	missense variant	-	NC_000017.11:g.61808616C>A	ExAC,gnomAD
rs1555609260	p.Ala257Gly	missense variant	-	NC_000017.11:g.61808615G>C	-
rs1555609257	p.Gln258Glu	missense variant	-	NC_000017.11:g.61808613G>C	-
RCV000498236	p.Gln258Glu	missense variant	-	NC_000017.11:g.61808613G>C	ClinVar
rs1198536492	p.Gln258His	missense variant	-	NC_000017.11:g.61808611C>G	TOPMed
RCV000702738	p.Gln258Pro	missense variant	Familial cancer of breast	NC_000017.11:g.61808612T>G	ClinVar
RCV000581143	p.Gln258His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808611C>G	ClinVar
rs138743097	p.Thr260Ala	missense variant	-	NC_000017.11:g.61808607T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000160362	p.Thr260Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808607T>C	ClinVar
RCV000553186	p.Thr260Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61808609dup	ClinVar
RCV000773361	p.Arg261Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808602T>A	ClinVar
RCV000216224	p.Glu262Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808599C>G	ClinVar
RCV000470570	p.Glu262Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61808600T>G	ClinVar
RCV000221058	p.Glu262Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808600T>G	ClinVar
rs876658283	p.Glu262Ala	missense variant	-	NC_000017.11:g.61808600T>G	TOPMed
rs876658312	p.Glu262Asp	missense variant	-	NC_000017.11:g.61808599C>G	-
RCV000663200	p.Leu263Phe	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808598G>A	ClinVar
rs1060501776	p.Leu263Val	missense variant	-	NC_000017.11:g.61808598G>C	gnomAD
rs1060501776	p.Leu263Phe	missense variant	-	NC_000017.11:g.61808598G>A	gnomAD
RCV000579965	p.Leu263Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808598G>C	ClinVar
RCV000467138	p.Leu263Phe	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808598G>A	ClinVar
RCV000775746	p.Leu263Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808598G>A	ClinVar
RCV000551521	p.Arg264Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61808594C>T	ClinVar
rs28997569	p.Arg264Gly	missense variant	-	NC_000017.11:g.61808595G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000572564	p.Arg264Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808594C>T	ClinVar
RCV000515771	p.Arg264Trp	missense variant	Familial cancer of breast	NC_000017.11:g.61808595G>A	ClinVar
RCV000123366	p.Arg264Trp	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808595G>A	ClinVar
RCV000409223	p.Arg264Trp	missense variant	Neoplasm of ovary	NC_000017.11:g.61808595G>A	ClinVar
RCV000120409	p.Arg264Trp	missense variant	-	NC_000017.11:g.61808595G>A	ClinVar
RCV000679792	p.Arg264Trp	missense variant	-	NC_000017.11:g.61808595G>A	ClinVar
RCV000636169	p.Arg264Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61808595G>C	ClinVar
rs758360637	p.Arg264Gln	missense variant	-	NC_000017.11:g.61808594C>T	ExAC,TOPMed,gnomAD
rs28997569	p.Arg264Trp	missense variant	-	NC_000017.11:g.61808595G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs28997569	p.Arg264Trp	missense variant	-	NC_000017.11:g.61808595G>A	UniProt,dbSNP
VAR_023701	p.Arg264Trp	missense variant	-	NC_000017.11:g.61808595G>A	UniProt
RCV000116164	p.Arg264Trp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808595G>A	ClinVar
RCV000411226	p.Arg264Trp	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808595G>A	ClinVar
rs28997569	p.Arg264Trp	missense variant	-	NC_000017.11:g.61808595G>A	NCI-TCGA
rs876659650	p.Arg265Trp	missense variant	-	NC_000017.11:g.61808592T>A	gnomAD
rs876659650	p.Arg265Gly	missense variant	-	NC_000017.11:g.61808592T>C	gnomAD
RCV000223409	p.Arg265Trp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808592T>A	ClinVar
rs550031006	p.Thr266Met	missense variant	-	NC_000017.11:g.61808588G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000198777	p.Thr266Met	missense variant	Familial cancer of breast	NC_000017.11:g.61808588G>A	ClinVar
RCV000662521	p.Thr266Met	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808588G>A	ClinVar
RCV000448094	p.Thr266Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808588G>A	ClinVar
RCV000116165	p.Thr266Met	missense variant	-	NC_000017.11:g.61808588G>A	ClinVar
RCV000160332	p.Ala267Val	missense variant	-	NC_000017.11:g.61808585G>A	ClinVar
rs730881631	p.Ala267Val	missense variant	-	NC_000017.11:g.61808585G>A	-
RCV000228879	p.Ala267Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61808586C>T	ClinVar
RCV000580349	p.Ala267Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808586C>T	ClinVar
rs865910081	p.Ala267Thr	missense variant	-	NC_000017.11:g.61808586C>T	gnomAD
RCV000131664	p.Tyr268Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808581A>C	ClinVar
rs587782514	p.Tyr268Ter	stop gained	-	NC_000017.11:g.61808581A>C	-
NCI-TCGA novel	p.Tyr268Phe	missense variant	-	NC_000017.11:g.61808582T>A	NCI-TCGA
rs1412610651	p.Ser269Leu	missense variant	-	NC_000017.11:g.61808579G>A	gnomAD
rs1412610651	p.Ser269Ter	stop gained	-	NC_000017.11:g.61808579G>C	gnomAD
RCV000575290	p.Ser269Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808579G>A	ClinVar
RCV000583047	p.Gly270Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808578dup	ClinVar
RCV000636135	p.Gly270Trp	missense variant	Familial cancer of breast	NC_000017.11:g.61808577C>A	ClinVar
rs1401241698	p.Gly270Trp	missense variant	-	NC_000017.11:g.61808577C>A	gnomAD
COSM1147837	p.Gly270Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61808577C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro272Ser	missense variant	-	NC_000017.11:g.61808571G>A	NCI-TCGA
rs587781797	p.Met273Leu	missense variant	-	NC_000017.11:g.61808568T>G	ExAC,gnomAD
RCV000130060	p.Met273Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808568T>G	ClinVar
RCV000804460	p.Met273Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61808568T>G	ClinVar
rs62620988	p.Thr274Ala	missense variant	-	NC_000017.11:g.61808565T>C	ExAC,TOPMed,gnomAD
RCV000588437	p.Thr274Ala	missense variant	-	NC_000017.11:g.61808565T>C	ClinVar
rs587781425	p.Ile275Val	missense variant	-	NC_000017.11:g.61808562T>C	ExAC,gnomAD
RCV000485268	p.Ile275Val	missense variant	-	NC_000017.11:g.61808562T>C	ClinVar
RCV000129307	p.Ile275Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808562T>C	ClinVar
RCV000663199	p.Ile275Val	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808562T>C	ClinVar
RCV000473432	p.Ile275Val	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808562T>C	ClinVar
rs1405765260	p.Leu276Pro	missense variant	-	NC_000017.11:g.61808558A>G	TOPMed
RCV000688523	p.Ser278Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61808553T>G	ClinVar
RCV000478189	p.Arg279Ser	missense variant	-	NC_000017.11:g.61808548C>G	ClinVar
RCV000584712	p.Arg279Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808548C>A	ClinVar
RCV000568517	p.Arg279Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808548C>G	ClinVar
RCV000636146	p.Arg279Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61808548C>A	ClinVar
rs759584091	p.Arg279Ser	missense variant	-	NC_000017.11:g.61808548C>A	ExAC,gnomAD
rs759584091	p.Arg279Ser	missense variant	-	NC_000017.11:g.61808548C>G	ExAC,gnomAD
rs1555609193	p.Asp280Gly	missense variant	-	NC_000017.11:g.61808546T>C	-
RCV000572797	p.Asp280Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808546T>C	ClinVar
NCI-TCGA novel	p.Asp280Asn	missense variant	-	NC_000017.11:g.61808547C>T	NCI-TCGA
rs1064795442	p.His281Tyr	missense variant	-	NC_000017.11:g.61808544G>A	-
RCV000540266	p.His281Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61808544G>T	ClinVar
rs1064795442	p.His281Asn	missense variant	-	NC_000017.11:g.61808544G>T	-
RCV000478559	p.His281Tyr	missense variant	-	NC_000017.11:g.61808544G>A	ClinVar
rs45624635	p.Thr282Ile	missense variant	-	NC_000017.11:g.61808540G>A	ExAC,TOPMed,gnomAD
rs45624635	p.Thr282Ser	missense variant	-	NC_000017.11:g.61808540G>C	ExAC,TOPMed,gnomAD
RCV000636116	p.Thr282Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61808540G>A	ClinVar
RCV000693086	p.Thr282Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61808540G>C	ClinVar
RCV000116166	p.Thr282Ser	missense variant	-	NC_000017.11:g.61808540G>C	ClinVar
RCV000220423	p.Thr282Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808540G>C	ClinVar
rs771096783	p.Cys283Tyr	missense variant	-	NC_000017.11:g.61808537C>T	ExAC,gnomAD
RCV000636186	p.Cys283Phe	missense variant	Familial cancer of breast	NC_000017.11:g.61808537C>A	ClinVar
RCV000561442	p.Cys283Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808538A>G	ClinVar
rs771096783	p.Cys283Phe	missense variant	-	NC_000017.11:g.61808537C>A	ExAC,gnomAD
rs1555609186	p.Cys283Arg	missense variant	-	NC_000017.11:g.61808538A>G	-
rs141055990	p.His285Arg	missense variant	-	NC_000017.11:g.61808531T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000781177	p.His285Arg	missense variant	-	NC_000017.11:g.61808531T>C	ClinVar
rs770289817	p.Pro286Ser	missense variant	-	NC_000017.11:g.61808529G>A	ExAC,gnomAD
rs1309409845	p.Glu287Lys	missense variant	-	NC_000017.11:g.61808526C>T	TOPMed
rs1375475281	p.Val288Ala	missense variant	-	NC_000017.11:g.61808522A>G	TOPMed
RCV000205570	p.Val289Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61808519del	ClinVar
RCV000695772	p.Val289Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61808520C>T	ClinVar
rs145601931	p.Gly290Ser	missense variant	-	NC_000017.11:g.61808517C>T	ESP,ExAC,gnomAD
rs148556781	p.Gly290Ala	missense variant	-	NC_000017.11:g.61808516C>G	ESP,TOPMed,gnomAD
RCV000575179	p.Gly290Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808516C>G	ClinVar
rs148556781	p.Gly290Asp	missense variant	-	NC_000017.11:g.61808516C>T	ESP,TOPMed,gnomAD
rs145601931	p.Gly290Ser	missense variant	-	NC_000017.11:g.61808517C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000567295	p.Gly290Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808516C>T	ClinVar
RCV000823332	p.Gly290Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61808517C>T	ClinVar
RCV000484748	p.Gly290Ser	missense variant	-	NC_000017.11:g.61808517C>T	ClinVar
RCV000795649	p.Gly290Asp	missense variant	Familial cancer of breast	NC_000017.11:g.61808516C>T	ClinVar
RCV000775425	p.Gly290Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808517C>T	ClinVar
RCV000805607	p.Phe292Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61808509del	ClinVar
RCV000565681	p.Phe292Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808509del	ClinVar
RCV000636175	p.Asn293Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61808507T>C	ClinVar
RCV000319358	p.Asn293Ser	missense variant	-	NC_000017.11:g.61808507T>C	ClinVar
RCV000573698	p.Asn293Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808507T>C	ClinVar
rs746599076	p.Asn293Ser	missense variant	-	NC_000017.11:g.61808507T>C	ExAC,gnomAD
rs876658249	p.Glu296Asp	missense variant	-	NC_000017.11:g.61808497C>G	TOPMed,gnomAD
RCV000229608	p.Glu296Asp	missense variant	Familial cancer of breast	NC_000017.11:g.61808497C>G	ClinVar
RCV000221644	p.Glu296Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808497C>G	ClinVar
RCV000636125	p.Glu296Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61808499C>G	ClinVar
RCV000494920	p.Glu296Ter	nonsense	Hereditary breast and ovarian cancer syndrome (HBOC)	NC_000017.11:g.61808499C>A	ClinVar
RCV000226821	p.Glu296Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61808498T>C	ClinVar
RCV000709556	p.Glu296Gly	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808498T>C	ClinVar
RCV000214417	p.Glu296Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808499C>G	ClinVar
rs876660125	p.Glu296Ter	stop gained	-	NC_000017.11:g.61808499C>A	TOPMed,gnomAD
rs876660125	p.Glu296Gln	missense variant	-	NC_000017.11:g.61808499C>G	TOPMed,gnomAD
rs878855158	p.Glu296Gly	missense variant	-	NC_000017.11:g.61808498T>C	TOPMed,gnomAD
rs28997570	p.Lys297Thr	missense variant	-	NC_000017.11:g.61808495T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000636147	p.Lys297Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61808495T>G	ClinVar
RCV000123367	p.Lys297Arg	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808495T>C	ClinVar
RCV000232385	p.Lys297Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61808494_61808495insA	ClinVar
RCV000218444	p.Lys297Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808496T>G	ClinVar
RCV000412293	p.Lys297Arg	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808495T>C	ClinVar
RCV000410013	p.Lys297Arg	missense variant	Neoplasm of ovary	NC_000017.11:g.61808495T>C	ClinVar
rs876658528	p.Lys297Gln	missense variant	-	NC_000017.11:g.61808496T>G	-
rs28997570	p.Lys297Arg	missense variant	-	NC_000017.11:g.61808495T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000120408	p.Lys297Arg	missense variant	-	NC_000017.11:g.61808495T>C	ClinVar
RCV000580683	p.Lys297Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808495T>G	ClinVar
rs1555609145	p.Cys298Arg	missense variant	-	NC_000017.11:g.61808493A>G	-
rs1555609140	p.Cys298Phe	missense variant	-	NC_000017.11:g.61808492C>A	-
RCV000569676	p.Cys298Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808492C>A	ClinVar
RCV000566586	p.Cys298Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808493A>G	ClinVar
rs1242769076	p.Met299Leu	missense variant	-	NC_000017.11:g.61808490T>G	gnomAD
rs137852985	p.Met299Ile	missense variant	Breast cancer (BC)	NC_000017.11:g.61808488C>T	UniProt,dbSNP
VAR_020900	p.Met299Ile	missense variant	Breast cancer (BC)	NC_000017.11:g.61808488C>T	UniProt
RCV000582137	p.Met299Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808488C>T	ClinVar
RCV000636166	p.Met299Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61808488C>T	ClinVar
RCV000565742	p.Leu301Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808483A>G	ClinVar
RCV000223526	p.Leu301Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808482del	ClinVar
rs750376292	p.Leu301Trp	missense variant	-	NC_000017.11:g.61808483A>C	ExAC,gnomAD
rs750376292	p.Leu301Ser	missense variant	-	NC_000017.11:g.61808483A>G	ExAC,gnomAD
RCV000564768	p.Asp303Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808477T>C	ClinVar
rs1555609130	p.Asp303Gly	missense variant	-	NC_000017.11:g.61808477T>C	-
rs1459305482	p.Gly304Glu	missense variant	-	NC_000017.11:g.61808474C>T	TOPMed
RCV000698356	p.Gly304Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61808475C>T	ClinVar
rs1459305482	p.Gly304Glu	missense variant	-	NC_000017.11:g.61808474C>T	NCI-TCGA Cosmic
RCV000657409	p.Asn306Ter	frameshift	-	NC_000017.11:g.61808472dup	ClinVar
RCV000759000	p.Asn306Ser	missense variant	-	NC_000017.11:g.61808468T>C	ClinVar
RCV000636154	p.Asn306Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61808467del	ClinVar
RCV000571540	p.Asn306Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808472dup	ClinVar
NCI-TCGA novel	p.Ser309Tyr	missense variant	-	NC_000017.11:g.61801467G>T	NCI-TCGA
RCV000780063	p.Cys310Tyr	missense variant	-	NC_000017.11:g.61801464C>T	ClinVar
rs587782731	p.Tyr311Cys	missense variant	-	NC_000017.11:g.61801461T>C	TOPMed,gnomAD
RCV000662777	p.Tyr311Ter	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61801459_61801462del	ClinVar
RCV000120410	p.Tyr311Ter	frameshift	-	NC_000017.11:g.61801461del	ClinVar
rs587782731	p.Tyr311Phe	missense variant	-	NC_000017.11:g.61801461T>A	TOPMed,gnomAD
RCV000540504	p.Tyr311Cys	missense variant	Familial cancer of breast	NC_000017.11:g.61801461T>C	ClinVar
RCV000132228	p.Tyr311Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801461T>C	ClinVar
RCV000553144	p.Tyr311Phe	missense variant	Familial cancer of breast	NC_000017.11:g.61801461T>A	ClinVar
rs1436085018	p.Tyr313Ter	stop gained	-	NC_000017.11:g.61801454A>C	gnomAD
RCV000701553	p.Tyr313Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61801454A>C	ClinVar
RCV000776366	p.Gly315Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801449C>A	ClinVar
COSM3890098	p.His317Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61801444G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys318Thr	missense variant	-	NC_000017.11:g.61801440T>G	NCI-TCGA
RCV000204964	p.Ser320Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61801435del	ClinVar
rs746681841	p.Ser320Asn	missense variant	-	NC_000017.11:g.61801434C>T	ExAC,gnomAD
COSM1153124	p.Ser320Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61801434C>G	NCI-TCGA Cosmic
RCV000636060	p.Asp321Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61801430A>T	ClinVar
rs1555607779	p.Asp321Glu	missense variant	-	NC_000017.11:g.61801430A>T	-
RCV000120411	p.Gln322Ter	nonsense	-	NC_000017.11:g.61801429G>A	ClinVar
rs587778139	p.Gln322Ter	stop gained	-	NC_000017.11:g.61801429G>A	-
RCV000774864	p.Gln322Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801428T>C	ClinVar
rs1555607775	p.His323Gln	missense variant	-	NC_000017.11:g.61801424G>T	-
RCV000636114	p.His323Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61801424G>T	ClinVar
rs1555607768	p.Gln326Lys	missense variant	-	NC_000017.11:g.61801417G>T	-
RCV000482006	p.Gln326Arg	missense variant	-	NC_000017.11:g.61801416T>C	ClinVar
rs1064794046	p.Gln326Arg	missense variant	-	NC_000017.11:g.61801416T>C	-
RCV000569079	p.Gln326Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801417G>T	ClinVar
rs876659057	p.Phe328Ser	missense variant	-	NC_000017.11:g.61801410A>G	-
RCV000823535	p.Phe328Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61801410A>G	ClinVar
RCV000217638	p.Phe328Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801410A>G	ClinVar
RCV000569097	p.Phe328Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801411A>G	ClinVar
rs1555607763	p.Phe328Leu	missense variant	-	NC_000017.11:g.61801411A>G	-
rs876659057	p.Phe328Ser	missense variant	-	NC_000017.11:g.61801410A>G	NCI-TCGA
RCV000582259	p.Gln329Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801408_61801409insT	ClinVar
rs778863018	p.Gln329Arg	missense variant	-	NC_000017.11:g.61801407T>C	ExAC,gnomAD
RCV000116168	p.Met331Ile	missense variant	-	NC_000017.11:g.61801400C>T	ClinVar
rs587782771	p.Met331Arg	missense variant	-	NC_000017.11:g.61801401A>C	gnomAD
rs587782771	p.Met331Lys	missense variant	-	NC_000017.11:g.61801401A>T	gnomAD
rs1380876424	p.Met331Leu	missense variant	-	NC_000017.11:g.61801402T>A	gnomAD
rs587780252	p.Met331Ile	missense variant	-	NC_000017.11:g.61801400C>T	-
RCV000575763	p.Met331Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801402T>A	ClinVar
RCV000709555	p.Met331Leu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61801402T>A	ClinVar
RCV000771331	p.Met331Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801400C>T	ClinVar
RCV000636062	p.Met331Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61801400C>T	ClinVar
RCV000794975	p.Met331Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61801402T>A	ClinVar
NCI-TCGA novel	p.Met331Ile	missense variant	-	NC_000017.11:g.61801400C>A	NCI-TCGA
RCV000132300	p.Met331Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801401A>C	ClinVar
RCV000213448	p.Cys332Tyr	missense variant	-	NC_000017.11:g.61801398C>T	ClinVar
RCV000219492	p.Cys332Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801398C>T	ClinVar
RCV000636095	p.Cys332Tyr	missense variant	Familial cancer of breast	NC_000017.11:g.61801398C>T	ClinVar
rs876660521	p.Cys332Tyr	missense variant	-	NC_000017.11:g.61801398C>T	gnomAD
NCI-TCGA novel	p.Cys332Ser	missense variant	-	NC_000017.11:g.61801398C>G	NCI-TCGA
rs757196702	p.Lys333Glu	missense variant	-	NC_000017.11:g.61801396T>C	ExAC,gnomAD
rs535414791	p.Ala334Ser	missense variant	-	NC_000017.11:g.61801393C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000473511	p.Ala334Ser	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61801393C>A	ClinVar
RCV000160333	p.Ala334Ser	missense variant	-	NC_000017.11:g.61801393C>A	ClinVar
RCV000536267	p.Ala334Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61801393C>T	ClinVar
RCV000780059	p.Ala334Thr	missense variant	-	NC_000017.11:g.61801393C>T	ClinVar
rs535414791	p.Ala334Thr	missense variant	-	NC_000017.11:g.61801393C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000561620	p.Ala334Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801393C>A	ClinVar
RCV000219711	p.Ala334Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801393C>T	ClinVar
RCV000709554	p.Ala334Ser	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61801393C>A	ClinVar
RCV000483340	p.Ala334Thr	missense variant	-	NC_000017.11:g.61801393C>T	ClinVar
RCV000164287	p.Trp335Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801388C>T	ClinVar
rs786201808	p.Trp335Ter	stop gained	-	NC_000017.11:g.61801388C>T	-
RCV000570826	p.Trp335Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801389C>T	ClinVar
RCV000815867	p.Trp335Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61801389C>T	ClinVar
rs1555607749	p.Trp335Ter	stop gained	-	NC_000017.11:g.61801389C>T	-
rs1214800958	p.Asp336Tyr	missense variant	-	NC_000017.11:g.61801387C>A	TOPMed
rs1430929794	p.Asp336Ala	missense variant	-	NC_000017.11:g.61801386T>G	gnomAD
rs1365389773	p.Ile337Val	missense variant	-	NC_000017.11:g.61801384T>C	gnomAD
rs777653224	p.Glu338Gln	missense variant	-	NC_000017.11:g.61801381C>G	ExAC,TOPMed,gnomAD
RCV000567478	p.Glu338Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801381C>T	ClinVar
RCV000548040	p.Glu338Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61801381C>T	ClinVar
rs777653224	p.Glu338Lys	missense variant	-	NC_000017.11:g.61801381C>T	ExAC,TOPMed,gnomAD
RCV000462189	p.Leu340Phe	missense variant	Familial cancer of breast	NC_000017.11:g.61801375G>A	ClinVar
RCV000563667	p.Leu340Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801375G>A	ClinVar
RCV000234635	p.Leu340Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61801374_61801375insAG	ClinVar
RCV000563981	p.Leu340Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801374_61801375insAG	ClinVar
rs755796609	p.Leu340Phe	missense variant	-	NC_000017.11:g.61801375G>A	ExAC,TOPMed,gnomAD
RCV000197282	p.Val341Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61801372C>T	ClinVar
rs863224797	p.Val341Ile	missense variant	-	NC_000017.11:g.61801372C>T	-
RCV000688160	p.Leu343Pro	missense variant	Familial cancer of breast	NC_000017.11:g.61801365A>G	ClinVar
rs1414803437	p.Leu343Arg	missense variant	-	NC_000017.11:g.61801365A>C	gnomAD
COSM1385018	p.Leu343Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61801366G>T	NCI-TCGA Cosmic
RCV000560634	p.Gly344Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61801362C>T	ClinVar
RCV000626975	p.Gly344Glu	missense variant	-	NC_000017.11:g.61801362C>T	ClinVar
RCV000580888	p.Gly344Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801362C>T	ClinVar
RCV000701190	p.Gly344Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61801363C>T	ClinVar
RCV000583905	p.Gly344Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801363C>T	ClinVar
rs751841684	p.Gly344Glu	missense variant	-	NC_000017.11:g.61801362C>T	ExAC,gnomAD
rs1555607734	p.Gly344Arg	missense variant	-	NC_000017.11:g.61801363C>T	-
rs786201819	p.Leu347Pro	missense variant	-	NC_000017.11:g.61801353A>G	TOPMed
RCV000409937	p.Leu347Pro	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61801353A>G	ClinVar
RCV000164304	p.Leu347Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801353A>G	ClinVar
RCV000410942	p.Leu347Pro	missense variant	Neoplasm of ovary	NC_000017.11:g.61801353A>G	ClinVar
RCV000371659	p.Leu347Pro	missense variant	-	NC_000017.11:g.61801353A>G	ClinVar
RCV000636110	p.Leu347Pro	missense variant	Familial cancer of breast	NC_000017.11:g.61801353A>G	ClinVar
rs149364097	p.Ala349Thr	missense variant	Fanconi anemia, complementation group j (fancj)	NC_000017.11:g.61801348C>T	ESP,ExAC,TOPMed,gnomAD
rs1184306036	p.Ala349Val	missense variant	-	NC_000017.11:g.61801347G>A	gnomAD
rs1184306036	p.Ala349Gly	missense variant	-	NC_000017.11:g.61801347G>C	gnomAD
rs149364097	p.Ala349Thr	missense variant	-	NC_000017.11:g.61801348C>T	NCI-TCGA
RCV000023492	p.Ala349Pro	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61801348C>G	ClinVar
rs149364097	p.Ala349Pro	missense variant	Fanconi anemia, complementation group j (fancj)	NC_000017.11:g.61801348C>G	ESP,ExAC,TOPMed,gnomAD
rs149364097	p.Ala349Ser	missense variant	Fanconi anemia, complementation group j (fancj)	NC_000017.11:g.61801348C>A	ESP,ExAC,TOPMed,gnomAD
rs1184306036	p.Ala349Val	missense variant	-	NC_000017.11:g.61801347G>A	NCI-TCGA
RCV000431413	p.Ala349Thr	missense variant	-	NC_000017.11:g.61801348C>T	ClinVar
RCV000213526	p.Ala349Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801348C>A	ClinVar
RCV000563742	p.Ala349Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801348C>T	ClinVar
RCV000706778	p.Ala349Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61801348C>T	ClinVar
RCV000483983	p.Cys350Arg	missense variant	-	NC_000017.11:g.61801345A>G	ClinVar
RCV000214181	p.Cys350Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801345A>G	ClinVar
RCV000549174	p.Cys350Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61801345A>G	ClinVar
rs876658173	p.Cys350Arg	missense variant	-	NC_000017.11:g.61801345A>G	-
RCV000213947	p.Tyr352His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801339A>G	ClinVar
RCV000160334	p.Tyr352His	missense variant	-	NC_000017.11:g.61801339A>G	ClinVar
RCV000542718	p.Tyr352His	missense variant	Familial cancer of breast	NC_000017.11:g.61801339A>G	ClinVar
rs730881632	p.Tyr352His	missense variant	-	NC_000017.11:g.61801339A>G	ExAC,gnomAD
rs762417690	p.Tyr352Cys	missense variant	-	NC_000017.11:g.61801338T>C	ExAC,gnomAD
RCV000702256	p.Tyr353His	missense variant	Familial cancer of breast	NC_000017.11:g.61801336A>G	ClinVar
NCI-TCGA novel	p.Tyr353Cys	missense variant	-	NC_000017.11:g.61801335T>C	NCI-TCGA
rs776939714	p.Thr354Ile	missense variant	-	NC_000017.11:g.61801332G>A	ExAC,gnomAD
RCV000214947	p.Thr354Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801332G>A	ClinVar
RCV000160335	p.Arg356Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801327G>A	ClinVar
rs1289648562	p.Arg356Gln	missense variant	-	NC_000017.11:g.61801326C>T	gnomAD
RCV000212307	p.Arg356Ter	nonsense	-	NC_000017.11:g.61801327G>A	ClinVar
RCV000636104	p.Arg356Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61801327G>A	ClinVar
rs730881633	p.Arg356Gly	missense variant	-	NC_000017.11:g.61801327G>C	TOPMed,gnomAD
rs730881633	p.Arg356Ter	stop gained	-	NC_000017.11:g.61801327G>A	TOPMed,gnomAD
rs769081927	p.Glu357Ter	stop gained	-	NC_000017.11:g.61801324C>A	NCI-TCGA,NCI-TCGA Cosmic
rs769081927	p.Glu357Ter	stop gained	-	NC_000017.11:g.61801324C>A	ExAC,gnomAD
rs775191379	p.Leu358Ile	missense variant	-	NC_000017.11:g.61801321G>T	ExAC,gnomAD
RCV000684898	p.Leu358Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61801306_61801321del	ClinVar
COSM1184939	p.Leu358Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61801320A>G	NCI-TCGA Cosmic
rs1158711504	p.Ile359Val	missense variant	-	NC_000017.11:g.61801318T>C	gnomAD
RCV000565573	p.Ile359Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801316T>C	ClinVar
rs730881634	p.Ile359Met	missense variant	-	NC_000017.11:g.61801316T>C	TOPMed
RCV000129762	p.Asp361Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801311del	ClinVar
rs1060501737	p.Asp361Tyr	missense variant	-	NC_000017.11:g.61801312C>A	gnomAD
RCV000472157	p.Asp361Tyr	missense variant	Familial cancer of breast	NC_000017.11:g.61801312C>A	ClinVar
NCI-TCGA novel	p.Asp361Val	missense variant	-	NC_000017.11:g.61801311T>A	NCI-TCGA
RCV000579755	p.Ala362Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801308G>A	ClinVar
rs1555607683	p.Ala362Val	missense variant	-	NC_000017.11:g.61801308G>A	-
COSM3795900	p.Asp363Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61801306C>T	NCI-TCGA Cosmic
rs770306753	p.Ile364Phe	missense variant	-	NC_000017.11:g.61801303T>A	ExAC,TOPMed,gnomAD
RCV000636067	p.Ile364Val	missense variant	Familial cancer of breast	NC_000017.11:g.61801303T>C	ClinVar
RCV000575286	p.Ile364Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801303T>C	ClinVar
rs770306753	p.Ile364Val	missense variant	-	NC_000017.11:g.61801303T>C	ExAC,TOPMed,gnomAD
RCV000569160	p.Ile365Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801300T>G	ClinVar
rs749251680	p.Ile365Val	missense variant	-	NC_000017.11:g.61801300T>C	ExAC,gnomAD
rs749251680	p.Ile365Leu	missense variant	-	NC_000017.11:g.61801300T>G	ExAC,gnomAD
RCV000217387	p.Cys367Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801291_61801295del	ClinVar
RCV000699015	p.Cys367Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61801294A>G	ClinVar
RCV000773777	p.Cys367Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801293C>A	ClinVar
rs1555607669	p.Pro368Ser	missense variant	-	NC_000017.11:g.61801291G>A	-
rs1064793072	p.Pro368Arg	missense variant	-	NC_000017.11:g.61801290G>C	-
RCV000486758	p.Pro368Arg	missense variant	-	NC_000017.11:g.61801290G>C	ClinVar
RCV000550495	p.Pro368Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61801291G>A	ClinVar
RCV000526617	p.Tyr369Cys	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61801287T>C	ClinVar
RCV000164934	p.Tyr369Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801287T>C	ClinVar
RCV000411336	p.Tyr369Cys	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61801287T>C	ClinVar
RCV000409363	p.Tyr369Cys	missense variant	Neoplasm of ovary	NC_000017.11:g.61801287T>C	ClinVar
RCV000129066	p.Tyr369His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801288A>G	ClinVar
RCV000470192	p.Tyr369His	missense variant	Familial cancer of breast	NC_000017.11:g.61801288A>G	ClinVar
rs587781325	p.Tyr369His	missense variant	-	NC_000017.11:g.61801288A>G	TOPMed
rs786202218	p.Tyr369Cys	missense variant	-	NC_000017.11:g.61801287T>C	TOPMed,gnomAD
RCV000569917	p.Asn370Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801284T>C	ClinVar
RCV000586091	p.Asn370Ser	missense variant	-	NC_000017.11:g.61801284T>C	ClinVar
RCV000662391	p.Asn370Ser	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61801284T>C	ClinVar
rs777511615	p.Asn370Ser	missense variant	-	NC_000017.11:g.61801284T>C	ExAC,TOPMed,gnomAD
RCV000690293	p.Tyr371Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61801283_61801284dup	ClinVar
rs1060501768	p.Tyr371Cys	missense variant	-	NC_000017.11:g.61801281T>C	TOPMed
RCV000473551	p.Tyr371Cys	missense variant	Familial cancer of breast	NC_000017.11:g.61801281T>C	ClinVar
RCV000165545	p.Leu372Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801279G>T	ClinVar
RCV000569842	p.Leu372Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801279G>A	ClinVar
RCV000538350	p.Leu372Phe	missense variant	Familial cancer of breast	NC_000017.11:g.61801279G>A	ClinVar
rs786202637	p.Leu372Phe	missense variant	-	NC_000017.11:g.61801279G>A	TOPMed,gnomAD
rs786202637	p.Leu372Ile	missense variant	-	NC_000017.11:g.61801279G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Leu372Pro	missense variant	-	NC_000017.11:g.61801278A>G	NCI-TCGA
RCV000164893	p.Ala375Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801269G>A	ClinVar
RCV000230469	p.Ala375Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61801270C>T	ClinVar
RCV000804829	p.Ala375Val	missense variant	Familial cancer of breast	NC_000017.11:g.61801269G>A	ClinVar
RCV000572170	p.Ala375Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801270C>T	ClinVar
rs786202192	p.Ala375Val	missense variant	-	NC_000017.11:g.61801269G>A	TOPMed
rs878855135	p.Ala375Thr	missense variant	-	NC_000017.11:g.61801270C>T	-
rs1028347439	p.Gln376Ter	stop gained	-	NC_000017.11:g.61801267G>A	TOPMed
RCV000581764	p.Gln376Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801267G>A	ClinVar
rs876659688	p.Ile377Val	missense variant	-	NC_000017.11:g.61801264T>C	-
RCV000222191	p.Ile377Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801264T>C	ClinVar
RCV000803149	p.Ile377Val	missense variant	Familial cancer of breast	NC_000017.11:g.61801264T>C	ClinVar
rs1555607637	p.Arg378Lys	missense variant	-	NC_000017.11:g.61801260C>T	-
RCV000698388	p.Arg378Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61801260C>T	ClinVar
RCV000573737	p.Arg378Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801260C>T	ClinVar
NCI-TCGA novel	p.Arg378Ser	missense variant	-	NC_000017.11:g.61801259C>G	NCI-TCGA
RCV000574402	p.Glu379Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801257T>C	ClinVar
rs1555607635	p.Glu379Gly	missense variant	-	NC_000017.11:g.61801257T>C	-
rs1555607633	p.Ser380Gly	missense variant	-	NC_000017.11:g.61801255T>C	-
rs569696977	p.Ser380Asn	missense variant	-	NC_000017.11:g.61801254C>T	1000Genomes,ExAC,gnomAD
RCV000580380	p.Ser380Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801254C>A	ClinVar
RCV000566062	p.Ser380Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801254C>T	ClinVar
rs569696977	p.Ser380Ile	missense variant	-	NC_000017.11:g.61801254C>A	1000Genomes,ExAC,gnomAD
RCV000822100	p.Ser380Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61801254C>A	ClinVar
RCV000575900	p.Ser380Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801255T>C	ClinVar
RCV000758984	p.Ser380Ile	missense variant	-	NC_000017.11:g.61801254C>A	ClinVar
rs1060501741	p.Met381Lys	missense variant	-	NC_000017.11:g.61799298A>T	-
rs1555607251	p.Met381Val	missense variant	-	NC_000017.11:g.61799299T>C	-
RCV000573050	p.Met381Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799299T>C	ClinVar
RCV000464547	p.Met381Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61799298A>T	ClinVar
rs1452168198	p.Asp382Asn	missense variant	-	NC_000017.11:g.61799296C>T	gnomAD
rs1060501750	p.Asn384Ser	missense variant	-	NC_000017.11:g.61799289T>C	-
RCV000471576	p.Asn384Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61799289T>C	ClinVar
RCV000582933	p.Leu385Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799287G>T	ClinVar
RCV000199172	p.Leu385Met	missense variant	Familial cancer of breast	NC_000017.11:g.61799287G>T	ClinVar
RCV000286010	p.Leu385Met	missense variant	-	NC_000017.11:g.61799287G>T	ClinVar
rs748001678	p.Leu385Met	missense variant	-	NC_000017.11:g.61799287G>T	ExAC,TOPMed,gnomAD
RCV000505742	p.Lys386Ter	nonsense	-	NC_000017.11:g.61799284T>A	ClinVar
rs730881635	p.Lys386Ter	stop gained	-	NC_000017.11:g.61799284T>A	-
rs1555607230	p.Glu387Lys	missense variant	-	NC_000017.11:g.61799281C>T	-
RCV000565775	p.Glu387Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799281C>T	ClinVar
RCV000690639	p.Gln388Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61799278G>A	ClinVar
rs1304655615	p.Gln388Ter	stop gained	-	NC_000017.11:g.61799278G>A	gnomAD
rs587780825	p.Val389Phe	missense variant	-	NC_000017.11:g.61799275C>A	gnomAD
RCV000123345	p.Val389Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61799275C>T	ClinVar
rs587780825	p.Val389Ile	missense variant	-	NC_000017.11:g.61799275C>T	gnomAD
RCV000219844	p.Val389Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799275C>T	ClinVar
RCV000521223	p.Val389Ile	missense variant	-	NC_000017.11:g.61799275C>T	ClinVar
RCV000485017	p.Val389Phe	missense variant	-	NC_000017.11:g.61799275C>A	ClinVar
rs781168634	p.Val390Ile	missense variant	-	NC_000017.11:g.61799272C>T	ExAC,gnomAD
rs1427603031	p.Ile391Met	missense variant	-	NC_000017.11:g.61799267A>C	gnomAD
RCV000195653	p.Ile391Val	missense variant	Familial cancer of breast	NC_000017.11:g.61799269T>C	ClinVar
RCV000662590	p.Ile391Val	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799269T>C	ClinVar
RCV000564729	p.Ile391Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799269T>C	ClinVar
rs863224798	p.Ile391Val	missense variant	-	NC_000017.11:g.61799269T>C	TOPMed
RCV000636065	p.Asp393His	missense variant	Familial cancer of breast	NC_000017.11:g.61799263C>G	ClinVar
rs1555607200	p.Asp393His	missense variant	-	NC_000017.11:g.61799263C>G	-
rs778992385	p.Ala395Val	missense variant	-	NC_000017.11:g.61799256G>A	ExAC,gnomAD
RCV000533050	p.Ala395Val	missense variant	Familial cancer of breast	NC_000017.11:g.61799256G>A	ClinVar
RCV000552357	p.Ala395Asp	missense variant	Familial cancer of breast	NC_000017.11:g.61799256G>T	ClinVar
rs778992385	p.Ala395Asp	missense variant	-	NC_000017.11:g.61799256G>T	ExAC,gnomAD
COSM1324926	p.Ala395Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61799257C>T	NCI-TCGA Cosmic
rs996493095	p.His396Arg	missense variant	-	NC_000017.11:g.61799253T>C	TOPMed,gnomAD
RCV000568743	p.His396Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799253T>C	ClinVar
RCV000456902	p.His396Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61799253T>C	ClinVar
RCV000483663	p.His396Arg	missense variant	-	NC_000017.11:g.61799253T>C	ClinVar
RCV000130499	p.Asn397His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799251T>G	ClinVar
rs587782039	p.Asn397His	missense variant	-	NC_000017.11:g.61799251T>G	-
RCV000457387	p.Asn397His	missense variant	Familial cancer of breast	NC_000017.11:g.61799251T>G	ClinVar
rs786203967	p.Ile398Val	missense variant	-	NC_000017.11:g.61799248T>C	TOPMed
RCV000167500	p.Ile398Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799248T>C	ClinVar
RCV000545385	p.Ile398Val	missense variant	Familial cancer of breast	NC_000017.11:g.61799248T>C	ClinVar
RCV000228302	p.Glu399Lys	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799245C>T	ClinVar
rs587782816	p.Glu399Lys	missense variant	-	NC_000017.11:g.61799245C>T	ExAC,TOPMed,gnomAD
RCV000411467	p.Glu399Lys	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799245C>T	ClinVar
RCV000686333	p.Glu399Asp	missense variant	Familial cancer of breast	NC_000017.11:g.61799243C>G	ClinVar
RCV000409044	p.Glu399Lys	missense variant	Neoplasm of ovary	NC_000017.11:g.61799245C>T	ClinVar
RCV000132388	p.Glu399Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799245C>T	ClinVar
rs764711572	p.Asp400Tyr	missense variant	-	NC_000017.11:g.61799242C>A	ExAC,gnomAD
RCV000215891	p.Asp400Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799242C>A	ClinVar
RCV000219685	p.Asp400Tyr	missense variant	-	NC_000017.11:g.61799242C>A	ClinVar
RCV000196847	p.Asp400Tyr	missense variant	Familial cancer of breast	NC_000017.11:g.61799242C>A	ClinVar
rs1340018456	p.Cys401Tyr	missense variant	-	NC_000017.11:g.61799238C>T	TOPMed
rs756636362	p.Cys401Arg	missense variant	-	NC_000017.11:g.61799239A>G	ExAC,gnomAD
rs876659282	p.Ala402Val	missense variant	-	NC_000017.11:g.61799235G>A	-
RCV000697413	p.Ala402Val	missense variant	Familial cancer of breast	NC_000017.11:g.61799235G>A	ClinVar
RCV000223391	p.Ala402Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799235G>A	ClinVar
RCV000123346	p.Arg403Trp	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799233G>A	ClinVar
RCV000459631	p.Arg403Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61799232C>T	ClinVar
RCV000483464	p.Arg403Gln	missense variant	-	NC_000017.11:g.61799232C>T	ClinVar
RCV000165766	p.Arg403Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799232C>T	ClinVar
RCV000343344	p.Arg403Trp	missense variant	-	NC_000017.11:g.61799233G>A	ClinVar
RCV000409639	p.Arg403Trp	missense variant	Neoplasm of ovary	NC_000017.11:g.61799233G>A	ClinVar
rs786202780	p.Arg403Gln	missense variant	-	NC_000017.11:g.61799232C>T	gnomAD
rs369631413	p.Arg403Trp	missense variant	-	NC_000017.11:g.61799233G>A	ESP,ExAC,TOPMed,gnomAD
RCV000411604	p.Arg403Trp	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799233G>A	ClinVar
RCV000215569	p.Arg403Trp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799233G>A	ClinVar
rs369631413	p.Arg403Trp	missense variant	-	NC_000017.11:g.61799233G>A	NCI-TCGA
COSM6147711	p.Glu404Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61799230C>T	NCI-TCGA Cosmic
RCV000583531	p.Ala406Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799224C>A	ClinVar
rs767872861	p.Ala406Val	missense variant	-	NC_000017.11:g.61799223G>A	ExAC,gnomAD
RCV000466194	p.Ala406Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61799224C>A	ClinVar
rs1060501747	p.Ala406Ser	missense variant	-	NC_000017.11:g.61799224C>A	-
RCV000636136	p.Ser407Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61799220C>T	ClinVar
RCV000220583	p.Ser407Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799220C>T	ClinVar
RCV000533268	p.Ser407Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61799221T>C	ClinVar
RCV000581075	p.Ser407Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799221T>C	ClinVar
rs1555607156	p.Ser407Gly	missense variant	-	NC_000017.11:g.61799221T>C	-
rs759835916	p.Ser407Asn	missense variant	-	NC_000017.11:g.61799220C>T	ExAC,TOPMed,gnomAD
rs587782247	p.Ser409Ile	missense variant	-	NC_000017.11:g.61799214C>A	-
RCV000130955	p.Ser409Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799214C>A	ClinVar
rs1315040357	p.Val410Ala	missense variant	-	NC_000017.11:g.61799211A>G	gnomAD
RCV000570082	p.Val410Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799211A>G	ClinVar
rs1396705621	p.Thr411Pro	missense variant	-	NC_000017.11:g.61799209T>G	gnomAD
RCV000165215	p.Thr411Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799190_61799211del	ClinVar
rs1372635508	p.Thr411Lys	missense variant	-	NC_000017.11:g.61799208G>T	gnomAD
NCI-TCGA novel	p.Thr411Ala	missense variant	-	NC_000017.11:g.61799209T>C	NCI-TCGA
RCV000479248	p.Glu412Ter	frameshift	-	NC_000017.11:g.61799206_61799207del	ClinVar
RCV000575632	p.Glu412Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799206_61799207del	ClinVar
RCV000853338	p.Glu412Ter	frameshift	Ovarian Cancers	NC_000017.11:g.61799206_61799207del	ClinVar
RCV000200575	p.Val413Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61799205del	ClinVar
RCV000216061	p.Val413Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799205del	ClinVar
RCV000481091	p.Val413Ter	frameshift	-	NC_000017.11:g.61799205del	ClinVar
RCV000545615	p.Val413Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61799202A>G	ClinVar
rs45576134	p.Val413Ala	missense variant	-	NC_000017.11:g.61799202A>G	ESP,ExAC,gnomAD
rs1257200897	p.Gln414His	missense variant	-	NC_000017.11:g.61799198C>G	TOPMed
rs368796923	p.Gln414Ter	stop gained	-	NC_000017.11:g.61799200G>A	ESP,ExAC,TOPMed,gnomAD
RCV000411128	p.Gln414Ter	nonsense	Neoplasm of ovary	NC_000017.11:g.61799200G>A	ClinVar
RCV000409609	p.Gln414Ter	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799200G>A	ClinVar
RCV000781179	p.Gln414Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61799200G>A	ClinVar
RCV000572169	p.Gln414His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799198C>G	ClinVar
RCV000566468	p.Arg416Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799193C>T	ClinVar
RCV000467513	p.Arg416Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61799193C>T	ClinVar
rs587780225	p.Arg416Trp	missense variant	-	NC_000017.11:g.61799194G>A	NCI-TCGA
RCV000558154	p.Arg416Trp	missense variant	Familial cancer of breast	NC_000017.11:g.61799194G>A	ClinVar
RCV000571154	p.Arg416Trp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799194G>A	ClinVar
RCV000116119	p.Arg416Trp	missense variant	-	NC_000017.11:g.61799194G>A	ClinVar
rs772570870	p.Arg416Gln	missense variant	-	NC_000017.11:g.61799193C>T	ExAC,gnomAD
rs587780225	p.Arg416Trp	missense variant	-	NC_000017.11:g.61799194G>A	ExAC,gnomAD
RCV000780058	p.Arg416Trp	missense variant	-	NC_000017.11:g.61799194G>A	ClinVar
RCV000686161	p.Ala418Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61799188C>A	ClinVar
rs150624408	p.Arg419Trp	missense variant	-	NC_000017.11:g.61799185G>A	UniProt,dbSNP
VAR_020901	p.Arg419Trp	missense variant	-	NC_000017.11:g.61799185G>A	UniProt
rs150624408	p.Arg419Trp	missense variant	-	NC_000017.11:g.61799185G>A	ESP,ExAC,TOPMed,gnomAD
rs748105919	p.Arg419Gln	missense variant	-	NC_000017.11:g.61799184C>T	ExAC,TOPMed,gnomAD
RCV000463365	p.Arg419Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61799184C>T	ClinVar
RCV000409993	p.Arg419Trp	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799185G>A	ClinVar
RCV000411100	p.Arg419Trp	missense variant	Neoplasm of ovary	NC_000017.11:g.61799185G>A	ClinVar
RCV000415326	p.Arg419Trp	missense variant	-	NC_000017.11:g.61799185G>A	ClinVar
RCV000120413	p.Arg419Trp	missense variant	-	NC_000017.11:g.61799185G>A	ClinVar
RCV000206467	p.Arg419Trp	missense variant	Familial cancer of breast	NC_000017.11:g.61799185G>A	ClinVar
RCV000772589	p.Arg419Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799185G>C	ClinVar
RCV000587794	p.Arg419Trp	missense variant	-	NC_000017.11:g.61799185G>A	ClinVar
RCV000116120	p.Arg419Trp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799185G>A	ClinVar
NCI-TCGA novel	p.Glu421Lys	missense variant	-	NC_000017.11:g.61799179C>T	NCI-TCGA
COSM1134054	p.Glu421Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61799179C>G	NCI-TCGA Cosmic
rs768633507	p.Leu422Ile	missense variant	-	NC_000017.11:g.61799176G>T	ExAC,gnomAD
RCV000561716	p.Asp423Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799172T>G	ClinVar
RCV000572388	p.Asp423Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799172T>C	ClinVar
RCV000636091	p.Asp423Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61799172T>C	ClinVar
rs746778889	p.Asp423Ala	missense variant	-	NC_000017.11:g.61799172T>G	ExAC,TOPMed,gnomAD
rs746778889	p.Asp423Gly	missense variant	-	NC_000017.11:g.61799172T>C	ExAC,TOPMed,gnomAD
rs1354610577	p.Ser424Asn	missense variant	-	NC_000017.11:g.61799169C>T	gnomAD
rs1028779004	p.Ser424Gly	missense variant	-	NC_000017.11:g.61799170T>C	TOPMed,gnomAD
RCV000811919	p.Ser424Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61799169C>T	ClinVar
RCV000580509	p.Ser424Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799169C>T	ClinVar
RCV000574706	p.Ser424Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799170T>C	ClinVar
RCV000698590	p.Met425Val	missense variant	Familial cancer of breast	NC_000017.11:g.61799167T>C	ClinVar
rs1555607090	p.Met425Lys	missense variant	-	NC_000017.11:g.61799166A>T	-
rs1555607086	p.Met425Ile	missense variant	-	NC_000017.11:g.61799165C>T	-
RCV000579591	p.Met425Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799166A>T	ClinVar
RCV000636101	p.Met425Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61799165C>T	ClinVar
RCV000781169	p.Val426Gly	missense variant	-	NC_000017.11:g.61799163A>C	ClinVar
rs1466605276	p.Asn427Ser	missense variant	-	NC_000017.11:g.61799160T>C	TOPMed
RCV000559529	p.Asn428Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61799157T>G	ClinVar
RCV000219872	p.Asn428Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799157T>G	ClinVar
rs779237423	p.Asn428Thr	missense variant	-	NC_000017.11:g.61799157T>G	ExAC,gnomAD
rs587781463	p.Asn429Thr	missense variant	-	NC_000017.11:g.61799154T>G	TOPMed,gnomAD
RCV000570276	p.Asn429Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799155T>C	ClinVar
RCV000129398	p.Asn429Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799154T>G	ClinVar
rs1555607082	p.Asn429Asp	missense variant	-	NC_000017.11:g.61799155T>C	-
RCV000519909	p.Asn429Thr	missense variant	-	NC_000017.11:g.61799154T>G	ClinVar
RCV000535703	p.Asn429Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61799154T>G	ClinVar
RCV000547465	p.Ile430Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61799151A>G	ClinVar
rs1555607077	p.Ile430Thr	missense variant	-	NC_000017.11:g.61799151A>G	-
RCV000772533	p.Ile430Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799152T>A	ClinVar
COSM3421758	p.Ile430Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61799152T>C	NCI-TCGA Cosmic
RCV000636130	p.Arg431Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61799148C>T	ClinVar
rs1328630889	p.Arg431Lys	missense variant	-	NC_000017.11:g.61799148C>T	gnomAD
RCV000580556	p.Lys432Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799146T>C	ClinVar
rs1555607070	p.Lys432Glu	missense variant	-	NC_000017.11:g.61799146T>C	-
rs1555607070	p.Lys432Ter	stop gained	-	NC_000017.11:g.61799146T>A	-
RCV000566907	p.Lys432Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799146T>A	ClinVar
RCV000685808	p.Asp434Val	missense variant	Familial cancer of breast	NC_000017.11:g.61799139T>A	ClinVar
RCV000160338	p.His435Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799136T>C	ClinVar
rs730881636	p.His435Arg	missense variant	-	NC_000017.11:g.61799136T>C	ExAC,gnomAD
RCV000212308	p.His435Arg	missense variant	-	NC_000017.11:g.61799136T>C	ClinVar
RCV000204749	p.His435Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61799136T>C	ClinVar
rs1060501758	p.His435Tyr	missense variant	-	NC_000017.11:g.61799137G>A	TOPMed
rs1352266926	p.His435Gln	missense variant	-	NC_000017.11:g.61799135A>T	gnomAD
RCV000663159	p.His435Tyr	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799137G>A	ClinVar
RCV000475043	p.His435Tyr	missense variant	Familial cancer of breast	NC_000017.11:g.61799137G>A	ClinVar
RCV000228671	p.Pro437Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61799131G>C	ClinVar
rs878855137	p.Pro437Ala	missense variant	-	NC_000017.11:g.61799131G>C	TOPMed
RCV000479813	p.Leu438Ter	frameshift	-	NC_000017.11:g.61799131del	ClinVar
rs1555607056	p.Leu438Arg	missense variant	-	NC_000017.11:g.61799127A>C	-
rs756119073	p.Leu438Ile	missense variant	-	NC_000017.11:g.61799128G>T	ExAC,gnomAD
RCV000571942	p.Leu438Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799127A>C	ClinVar
rs753214212	p.Arg439Gln	missense variant	-	NC_000017.11:g.61799124C>T	ExAC,TOPMed,gnomAD
rs587780226	p.Arg439Ter	stop gained	-	NC_000017.11:g.61799125G>A	NCI-TCGA
RCV000528173	p.Arg439Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61799124C>T	ClinVar
RCV000775423	p.Arg439Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799124C>T	ClinVar
RCV000210150	p.Arg439Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799125G>A	ClinVar
rs587780226	p.Arg439Ter	stop gained	-	NC_000017.11:g.61799125G>A	gnomAD
RCV000662793	p.Arg439Ter	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799125G>A	ClinVar
RCV000699261	p.Arg439Ter	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799125G>A	ClinVar
RCV000116121	p.Arg439Ter	nonsense	-	NC_000017.11:g.61799125G>A	ClinVar
rs1458068665	p.Val441Ala	missense variant	-	NC_000017.11:g.61799118A>G	gnomAD
rs1060501782	p.Val441Met	missense variant	-	NC_000017.11:g.61799119C>T	-
RCV000662896	p.Val441Met	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799119C>T	ClinVar
RCV000457451	p.Val441Met	missense variant	Familial cancer of breast	NC_000017.11:g.61799119C>T	ClinVar
RCV000567518	p.Cys442Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799115C>G	ClinVar
RCV000723256	p.Cys442Ter	frameshift	-	NC_000017.11:g.61799116_61799122del	ClinVar
rs1555607040	p.Cys442Ser	missense variant	-	NC_000017.11:g.61799115C>G	-
rs1555607035	p.Cys443Tyr	missense variant	-	NC_000017.11:g.61799112C>T	-
RCV000636064	p.Cys443Tyr	missense variant	Familial cancer of breast	NC_000017.11:g.61799112C>T	ClinVar
RCV000758985	p.Ile446Thr	missense variant	-	NC_000017.11:g.61799103A>G	ClinVar
RCV000166825	p.Ile446Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799104T>G	ClinVar
RCV000573487	p.Ile446Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799103A>G	ClinVar
RCV000709550	p.Ile446Leu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799104T>G	ClinVar
rs1555607024	p.Ile446Thr	missense variant	-	NC_000017.11:g.61799103A>G	-
rs786203496	p.Ile446Leu	missense variant	-	NC_000017.11:g.61799104T>G	-
RCV000449028	p.Trp448Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793727C>T	ClinVar
RCV000198848	p.Trp448Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61793727C>T	ClinVar
rs775171520	p.Trp448Ter	stop gained	-	NC_000017.11:g.61793727C>T	ExAC,TOPMed,gnomAD
rs771861055	p.Ala451Val	missense variant	-	NC_000017.11:g.61793718G>A	ExAC,gnomAD
RCV000524937	p.Ala453Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61793713C>T	ClinVar
rs587780227	p.Ala453Thr	missense variant	-	NC_000017.11:g.61793713C>T	ExAC,TOPMed,gnomAD
RCV000221894	p.Ala453Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793713C>T	ClinVar
RCV000116122	p.Ala453Thr	missense variant	-	NC_000017.11:g.61793713C>T	ClinVar
RCV000809729	p.Glu454Val	missense variant	Familial cancer of breast	NC_000017.11:g.61793709T>A	ClinVar
RCV000771394	p.Glu454Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793709T>A	ClinVar
RCV000165414	p.Glu454Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793708T>G	ClinVar
RCV000663127	p.Glu454Ter	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61793710C>A	ClinVar
rs1555605955	p.Glu454Ter	stop gained	-	NC_000017.11:g.61793710C>A	-
rs786202553	p.Glu454Asp	missense variant	-	NC_000017.11:g.61793708T>G	-
rs769918040	p.Glu454Val	missense variant	-	NC_000017.11:g.61793709T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu454Asp	missense variant	-	NC_000017.11:g.61793708T>A	NCI-TCGA
RCV000123347	p.Tyr455Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61793707A>T	ClinVar
rs587780826	p.Tyr455Asn	missense variant	-	NC_000017.11:g.61793707A>T	gnomAD
rs1379791142	p.Leu456Phe	missense variant	-	NC_000017.11:g.61793704G>A	gnomAD
RCV000636156	p.Leu456His	missense variant	Familial cancer of breast	NC_000017.11:g.61793703A>T	ClinVar
rs1555605947	p.Leu456His	missense variant	-	NC_000017.11:g.61793703A>T	-
RCV000679775	p.Val457Leu	missense variant	-	NC_000017.11:g.61793701C>G	ClinVar
RCV000571111	p.Val457Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793701C>T	ClinVar
rs748221377	p.Val457Ile	missense variant	-	NC_000017.11:g.61793701C>T	ExAC,gnomAD
RCV000474977	p.Val457Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61793701C>G	ClinVar
rs748221377	p.Val457Leu	missense variant	-	NC_000017.11:g.61793701C>G	ExAC,gnomAD
rs1369274888	p.Val457Gly	missense variant	-	NC_000017.11:g.61793700A>C	TOPMed
NCI-TCGA novel	p.Val457CysPheSerTerUnk	frameshift	-	NC_000017.11:g.61793701_61793702insA	NCI-TCGA
rs587780228	p.Glu458Ter	stop gained	-	NC_000017.11:g.61793698C>A	ExAC,TOPMed,gnomAD
RCV000473135	p.Glu458Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61793698C>A	ClinVar
RCV000781186	p.Glu458Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61793698C>A	ClinVar
RCV000212309	p.Glu458Ter	nonsense	-	NC_000017.11:g.61793698C>A	ClinVar
rs1555605942	p.Glu458Gly	missense variant	-	NC_000017.11:g.61793697T>C	-
RCV000580245	p.Glu458Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793697T>C	ClinVar
RCV000776784	p.Glu458Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793698C>G	ClinVar
RCV000663293	p.Glu458Ter	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61793698C>A	ClinVar
RCV000116123	p.Glu458Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793698C>A	ClinVar
RCV000214628	p.Arg459Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793695T>C	ClinVar
RCV000694775	p.Arg459Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61793695T>C	ClinVar
RCV000580858	p.Arg459Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793693T>G	ClinVar
rs752052351	p.Arg459Gly	missense variant	-	NC_000017.11:g.61793695T>C	ExAC,TOPMed,gnomAD
rs780310294	p.Arg459Ser	missense variant	-	NC_000017.11:g.61793693T>G	ExAC,gnomAD
rs1199869583	p.Asp460Asn	missense variant	-	NC_000017.11:g.61793692C>T	gnomAD
RCV000657659	p.Tyr461Ter	nonsense	-	NC_000017.11:g.61793687A>C	ClinVar
rs587780875	p.Tyr461Ter	stop gained	-	NC_000017.11:g.61793687A>C	ExAC,TOPMed,gnomAD
RCV000195948	p.Tyr461Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61793687A>C	ClinVar
rs1555605920	p.Ser463Pro	missense variant	-	NC_000017.11:g.61793683A>G	-
RCV000822996	p.Ser463Pro	missense variant	Familial cancer of breast	NC_000017.11:g.61793683A>G	ClinVar
RCV000580303	p.Ser463Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793683A>G	ClinVar
rs1308550801	p.Cys465Arg	missense variant	-	NC_000017.11:g.61793677A>G	TOPMed
RCV000772234	p.Cys465Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793677A>G	ClinVar
RCV000220101	p.Ile467Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793669T>C	ClinVar
rs764979728	p.Ile467Met	missense variant	-	NC_000017.11:g.61793669T>C	ExAC,gnomAD
rs1369814158	p.Trp468Arg	missense variant	-	NC_000017.11:g.61793668A>G	TOPMed
rs1555605906	p.Asn471Ser	missense variant	-	NC_000017.11:g.61793658T>C	-
RCV000563546	p.Asn471Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793658T>C	ClinVar
RCV000575093	p.Glu472Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793656C>A	ClinVar
RCV000679776	p.Glu472Gln	missense variant	-	NC_000017.11:g.61793656C>G	ClinVar
RCV000694857	p.Glu472Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61793656C>A	ClinVar
rs1555605902	p.Glu472Ter	stop gained	-	NC_000017.11:g.61793656C>A	-
RCV000709548	p.Thr476Ser	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61793643G>C	ClinVar
rs1389470069	p.Leu477Val	missense variant	-	NC_000017.11:g.61793641A>C	TOPMed
RCV000575059	p.His478Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793638G>A	ClinVar
RCV000123348	p.His478Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61793637T>C	ClinVar
RCV000409336	p.His478Arg	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61793637T>C	ClinVar
rs45501097	p.His478Arg	missense variant	-	NC_000017.11:g.61793637T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs45501097	p.His478Pro	missense variant	-	NC_000017.11:g.61793637T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs761452695	p.His478Tyr	missense variant	-	NC_000017.11:g.61793638G>A	ExAC,gnomAD
RCV000120388	p.His478Arg	missense variant	-	NC_000017.11:g.61793637T>C	ClinVar
RCV000410488	p.His478Arg	missense variant	Neoplasm of ovary	NC_000017.11:g.61793637T>C	ClinVar
RCV000116125	p.His478Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793637T>C	ClinVar
rs1555605887	p.Met480Ile	missense variant	-	NC_000017.11:g.61793630C>G	-
rs1555605887	p.Met480Ile	missense variant	-	NC_000017.11:g.61793630C>G	NCI-TCGA
RCV000554675	p.Met480Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61793630C>G	ClinVar
rs200062099	p.Gly481Asp	missense variant	-	NC_000017.11:g.61793628C>T	ExAC,TOPMed,gnomAD
RCV000130729	p.Gly481Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793628C>T	ClinVar
RCV000212311	p.Gly481Asp	missense variant	-	NC_000017.11:g.61793628C>T	ClinVar
rs200062099	p.Gly481Val	missense variant	-	NC_000017.11:g.61793628C>A	ExAC,TOPMed,gnomAD
RCV000530704	p.Gly481Cys	missense variant	Familial cancer of breast	NC_000017.11:g.61793629C>A	ClinVar
RCV000469846	p.Gly481Asp	missense variant	Familial cancer of breast	NC_000017.11:g.61793628C>T	ClinVar
RCV000780054	p.Gly481Asp	missense variant	-	NC_000017.11:g.61793628C>T	ClinVar
RCV000116127	p.Gly481Val	missense variant	-	NC_000017.11:g.61793628C>A	ClinVar
rs587780229	p.Gly481Cys	missense variant	-	NC_000017.11:g.61793629C>A	ExAC,TOPMed,gnomAD
RCV000663131	p.Gly481Asp	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61793628C>T	ClinVar
RCV000220981	p.Gly481Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793629C>A	ClinVar
RCV000116126	p.Gly481Cys	missense variant	-	NC_000017.11:g.61793629C>A	ClinVar
rs759360709	p.Ile482Met	missense variant	-	NC_000017.11:g.61793624G>C	ExAC,gnomAD
rs142744352	p.Ile482Val	missense variant	-	NC_000017.11:g.61793626T>C	ESP,ExAC,TOPMed,gnomAD
RCV000581460	p.Ile482Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793624G>C	ClinVar
RCV000197743	p.Ile482Met	missense variant	Familial cancer of breast	NC_000017.11:g.61793624G>C	ClinVar
RCV000195858	p.Ile482Val	missense variant	Familial cancer of breast	NC_000017.11:g.61793626T>C	ClinVar
RCV000218129	p.Ile482Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793626T>C	ClinVar
RCV000589605	p.Ile482Val	missense variant	-	NC_000017.11:g.61793626T>C	ClinVar
RCV000662396	p.Ile482Val	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61793626T>C	ClinVar
rs1555605874	p.Thr483Ile	missense variant	-	NC_000017.11:g.61793622G>A	-
RCV000562447	p.Thr483Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793622G>A	ClinVar
rs1190796460	p.Thr486Ala	missense variant	-	NC_000017.11:g.61793614T>C	gnomAD
RCV000542268	p.Pro488Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61793608G>A	ClinVar
rs1450320184	p.Pro488Ser	missense variant	-	NC_000017.11:g.61793608G>A	gnomAD
rs1237035767	p.Pro488Arg	missense variant	-	NC_000017.11:g.61793607G>C	gnomAD
RCV000575739	p.Pro488Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793608G>A	ClinVar
rs1555605855	p.Ile489Val	missense variant	-	NC_000017.11:g.61793605T>C	-
RCV000563502	p.Ile489Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793605T>C	ClinVar
RCV000565670	p.Ile489Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793612del	ClinVar
RCV000780060	p.Ile489Val	missense variant	-	NC_000017.11:g.61793605T>C	ClinVar
RCV000462892	p.Ile489Met	missense variant	Familial cancer of breast	NC_000017.11:g.61793603A>C	ClinVar
rs587780230	p.Ile489Met	missense variant	-	NC_000017.11:g.61793603A>C	ExAC,gnomAD
RCV000588035	p.Ile489Met	missense variant	-	NC_000017.11:g.61793603A>C	ClinVar
RCV000116129	p.Ile489Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793603A>C	ClinVar
RCV000693834	p.Ile489Val	missense variant	Familial cancer of breast	NC_000017.11:g.61793605T>C	ClinVar
RCV000772554	p.Leu490Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793600C>A	ClinVar
RCV000570500	p.Gln491Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793598T>A	ClinVar
rs1555605852	p.Gln491Leu	missense variant	-	NC_000017.11:g.61793598T>A	-
RCV000690425	p.Gln491Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61793598T>A	ClinVar
NCI-TCGA novel	p.Gln491Lys	missense variant	-	NC_000017.11:g.61793599G>T	NCI-TCGA
rs1555603628	p.His493Tyr	missense variant	-	NC_000017.11:g.61784421G>A	-
rs1555603626	p.His493Leu	missense variant	-	NC_000017.11:g.61784420T>A	-
RCV000636120	p.His493Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61784420T>A	ClinVar
RCV000580963	p.His493Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784421G>A	ClinVar
rs536081549	p.Ser495Phe	missense variant	-	NC_000017.11:g.61784414G>A	1000Genomes,ExAC,gnomAD
RCV000554730	p.Ser495Pro	missense variant	Familial cancer of breast	NC_000017.11:g.61784415A>G	ClinVar
RCV000564849	p.Ser495Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784419dup	ClinVar
rs1555603617	p.Ser495Pro	missense variant	-	NC_000017.11:g.61784415A>G	-
rs1555603612	p.Ala496Val	missense variant	-	NC_000017.11:g.61784411G>A	NCI-TCGA Cosmic
RCV000584433	p.Ala496Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784411G>A	ClinVar
rs1555603612	p.Ala496Val	missense variant	-	NC_000017.11:g.61784411G>A	-
rs876658725	p.Val497Leu	missense variant	-	NC_000017.11:g.61784409C>G	TOPMed
RCV000222629	p.Val497Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784409C>G	ClinVar
RCV000696982	p.Val497Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61784409C>G	ClinVar
RCV000569583	p.Leu498His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784405A>T	ClinVar
rs1555603600	p.Leu498His	missense variant	-	NC_000017.11:g.61784405A>T	-
rs1060501739	p.Gln499Ter	stop gained	-	NC_000017.11:g.61784403G>A	-
RCV000473198	p.Gln499Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61784403G>A	ClinVar
rs746329838	p.Lys500Arg	missense variant	-	NC_000017.11:g.61784399T>C	ExAC,gnomAD
rs1310324883	p.Lys503Thr	missense variant	-	NC_000017.11:g.61784390T>G	TOPMed,gnomAD
rs1555603594	p.Lys503Glu	missense variant	-	NC_000017.11:g.61784391T>C	-
RCV000587053	p.Lys503Glu	missense variant	-	NC_000017.11:g.61784391T>C	ClinVar
rs1443429619	p.Lys503Asn	missense variant	-	NC_000017.11:g.61784389T>G	gnomAD
RCV000570177	p.Lys503Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784389T>G	ClinVar
RCV000798722	p.Lys503Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61784389T>G	ClinVar
rs1310324883	p.Lys503Arg	missense variant	-	NC_000017.11:g.61784390T>C	TOPMed,gnomAD
rs755306832	p.Ile504Thr	missense variant	-	NC_000017.11:g.61784387A>G	TOPMed
RCV000464669	p.Ile504Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61784393del	ClinVar
rs775735278	p.Ile504AsnPheSerTerUnk	frameshift	-	NC_000017.11:g.61784387_61784388insT	NCI-TCGA
RCV000562211	p.Ile504Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784387A>G	ClinVar
RCV000215869	p.Ile504Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784386G>C	ClinVar
rs876660478	p.Ile504Met	missense variant	-	NC_000017.11:g.61784386G>C	TOPMed
NCI-TCGA novel	p.Ile504SerPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.61784388T>-	NCI-TCGA
RCV000569483	p.Ser505Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784384G>A	ClinVar
RCV000457490	p.Ser505Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61784384G>A	ClinVar
rs945661395	p.Ser505Leu	missense variant	-	NC_000017.11:g.61784384G>A	TOPMed,gnomAD
RCV000636181	p.Ile507Val	missense variant	Familial cancer of breast	NC_000017.11:g.61784379T>C	ClinVar
RCV000575490	p.Ile507Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784379T>C	ClinVar
rs1555603569	p.Ile507Val	missense variant	-	NC_000017.11:g.61784379T>C	-
COSM1589086	p.Ile507Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61784377A>C	NCI-TCGA Cosmic
RCV000774897	p.Tyr508Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784375T>C	ClinVar
RCV000567604	p.Gly509Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784372C>T	ClinVar
rs1555603567	p.Gly509Asp	missense variant	-	NC_000017.11:g.61784372C>T	-
NCI-TCGA novel	p.Gly509Val	missense variant	-	NC_000017.11:g.61784372C>A	NCI-TCGA
rs1555603565	p.Glu511Gly	missense variant	-	NC_000017.11:g.61784366T>C	-
rs1418736430	p.Glu511Asp	missense variant	-	NC_000017.11:g.61784365C>G	gnomAD
RCV000571712	p.Glu511Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784366T>C	ClinVar
RCV000695002	p.Ala513Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61784362del	ClinVar
NCI-TCGA novel	p.Arg514LysPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.61784357C>-	NCI-TCGA
RCV000691432	p.Glu515Asp	missense variant	Familial cancer of breast	NC_000017.11:g.61784353T>G	ClinVar
NCI-TCGA novel	p.Glu515Ter	stop gained	-	NC_000017.11:g.61784355C>A	NCI-TCGA
RCV000484034	p.Glu515Ter	frameshift	-	NC_000017.11:g.61784355del	ClinVar
RCV000777057	p.Val516Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784352C>T	ClinVar
rs786202169	p.Pro517Leu	missense variant	-	NC_000017.11:g.61784348G>A	TOPMed
RCV000164858	p.Pro517Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784348G>A	ClinVar
RCV000561182	p.Val518Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784345A>T	ClinVar
RCV000439785	p.Val518Ile	missense variant	-	NC_000017.11:g.61784346C>T	ClinVar
rs1555603541	p.Val518Asp	missense variant	-	NC_000017.11:g.61784345A>T	-
RCV000575364	p.Ile519Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784342A>G	ClinVar
RCV000636151	p.Ile519Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61784342A>G	ClinVar
RCV000581012	p.Ile519Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784342A>T	ClinVar
rs1555603538	p.Ile519Asn	missense variant	-	NC_000017.11:g.61784342A>T	-
rs1555603538	p.Ile519Thr	missense variant	-	NC_000017.11:g.61784342A>G	-
RCV000160341	p.Ser520Arg	missense variant	-	NC_000017.11:g.61784338A>T	ClinVar
rs730881638	p.Ser520Arg	missense variant	-	NC_000017.11:g.61784338A>T	-
rs757629526	p.Ser520Thr	missense variant	-	NC_000017.11:g.61784339C>G	ExAC,gnomAD
rs913184257	p.Ala521Thr	missense variant	-	NC_000017.11:g.61784337C>T	TOPMed
RCV000775100	p.Ala521Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784337C>T	ClinVar
RCV000570283	p.Ser522Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784333G>A	ClinVar
rs1555603525	p.Ser522Leu	missense variant	-	NC_000017.11:g.61784333G>A	-
rs1555603510	p.Thr523Ala	missense variant	-	NC_000017.11:g.61784331T>C	-
RCV000663134	p.Thr523Ile	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61784330G>A	ClinVar
RCV000562602	p.Thr523Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784331T>C	ClinVar
rs1060501764	p.Thr523Ile	missense variant	-	NC_000017.11:g.61784330G>A	-
RCV000477399	p.Thr523Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61784330G>A	ClinVar
RCV000795285	p.Gln524Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61784327T>C	ClinVar
rs587781726	p.Gln524Pro	missense variant	-	NC_000017.11:g.61784327T>G	TOPMed,gnomAD
rs587781726	p.Gln524Arg	missense variant	-	NC_000017.11:g.61784327T>C	TOPMed,gnomAD
RCV000129913	p.Gln524Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784327T>C	ClinVar
NCI-TCGA novel	p.Gln524Ter	stop gained	-	NC_000017.11:g.61784328G>A	NCI-TCGA
RCV000472237	p.Gln524Pro	missense variant	Familial cancer of breast	NC_000017.11:g.61784327T>G	ClinVar
NCI-TCGA novel	p.Leu527Phe	missense variant	-	NC_000017.11:g.61784319G>A	NCI-TCGA
RCV000568422	p.Lys528Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784316T>C	ClinVar
rs748962730	p.Lys528Glu	missense variant	-	NC_000017.11:g.61784316T>C	ExAC,gnomAD
rs748962730	p.Lys528Ter	stop gained	-	NC_000017.11:g.61784316T>A	ExAC,gnomAD
rs138784299	p.Gly529Glu	missense variant	-	NC_000017.11:g.61784312C>T	ESP,ExAC,TOPMed,gnomAD
RCV000560732	p.Gly529Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61784313C>G	ClinVar
RCV000217753	p.Gly529Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784313C>G	ClinVar
rs876659321	p.Gly529Arg	missense variant	-	NC_000017.11:g.61784313C>G	-
RCV000120389	p.Gly529Glu	missense variant	-	NC_000017.11:g.61784312C>T	ClinVar
rs1326418771	p.Leu530Val	missense variant	-	NC_000017.11:g.61784310G>C	gnomAD
RCV000232484	p.Phe531Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61784306A>G	ClinVar
RCV000482354	p.Phe531Val	missense variant	-	NC_000017.11:g.61784307A>C	ClinVar
RCV000573125	p.Phe531Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784307A>C	ClinVar
RCV000206417	p.Phe531Val	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61784307A>C	ClinVar
rs4988350	p.Phe531Val	missense variant	-	NC_000017.11:g.61784307A>C	gnomAD
rs878855139	p.Phe531Ser	missense variant	-	NC_000017.11:g.61784306A>G	-
RCV000662403	p.Phe531Val	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61784307A>C	ClinVar
rs876658383	p.Met532Val	missense variant	-	NC_000017.11:g.61784304T>C	TOPMed
RCV000780069	p.Met532Val	missense variant	-	NC_000017.11:g.61784304T>C	ClinVar
RCV000214562	p.Met532Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784304T>C	ClinVar
RCV000532257	p.Met532Val	missense variant	Familial cancer of breast	NC_000017.11:g.61784304T>C	ClinVar
rs1179705368	p.Met532Thr	missense variant	-	NC_000017.11:g.61784303A>G	TOPMed
RCV000571401	p.Met532Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784303A>G	ClinVar
RCV000636080	p.Met532Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61784304dup	ClinVar
rs1555603483	p.Val533Ala	missense variant	-	NC_000017.11:g.61784300A>G	-
RCV000574873	p.Val533Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784300A>G	ClinVar
rs1060501752	p.Tyr536Cys	missense variant	-	NC_000017.11:g.61784291T>C	-
RCV000474112	p.Tyr536Cys	missense variant	Familial cancer of breast	NC_000017.11:g.61784291T>C	ClinVar
RCV000580669	p.Tyr536Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784291T>C	ClinVar
RCV000777287	p.Leu537His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784288A>T	ClinVar
RCV000205999	p.Leu537Val	missense variant	Familial cancer of breast	NC_000017.11:g.61784289G>C	ClinVar
rs864622208	p.Leu537Val	missense variant	-	NC_000017.11:g.61784289G>C	-
RCV000226321	p.Arg539Lys	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61784282C>T	ClinVar
RCV000709547	p.Arg539Lys	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61784282C>T	ClinVar
rs199616792	p.Arg539Lys	missense variant	-	NC_000017.11:g.61784282C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs199616792	p.Arg539Met	missense variant	-	NC_000017.11:g.61784282C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000130314	p.Arg539Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784282C>T	ClinVar
RCV000662628	p.Arg539Lys	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61784282C>T	ClinVar
RCV000222534	p.Gln540Leu	missense variant	-	NC_000017.11:g.61784279T>A	ClinVar
RCV000662789	p.Gln540Leu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61784279T>A	ClinVar
RCV000781166	p.Gln540Leu	missense variant	-	NC_000017.11:g.61784279T>A	ClinVar
rs4988349	p.Gln540Leu	missense variant	-	NC_000017.11:g.61784279T>A	ESP,ExAC,TOPMed,gnomAD
RCV000465039	p.Gln540Leu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61784279T>A	ClinVar
rs1193170320	p.Ser542Asn	missense variant	-	NC_000017.11:g.61784273C>T	TOPMed
RCV000568937	p.Ser542Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784273C>T	ClinVar
RCV000165883	p.Asp547Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780993A>C	ClinVar
RCV000269215	p.Asp547Glu	missense variant	Fanconi anemia (FA)	NC_000017.11:g.61780993A>C	ClinVar
RCV000662956	p.Asp547Glu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780993A>C	ClinVar
RCV000326593	p.Asp547Glu	missense variant	Neoplasm of the breast	NC_000017.11:g.61780993A>C	ClinVar
RCV000537150	p.Asp547Glu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780993A>C	ClinVar
RCV000758989	p.Asp547Glu	missense variant	-	NC_000017.11:g.61780993A>C	ClinVar
rs754414731	p.Asp547Glu	missense variant	-	NC_000017.11:g.61780993A>C	ExAC,TOPMed,gnomAD
RCV000131440	p.Tyr548Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780991T>C	ClinVar
RCV000230012	p.Tyr548Cys	missense variant	Familial cancer of breast	NC_000017.11:g.61780991T>C	ClinVar
rs587782405	p.Tyr548Cys	missense variant	-	NC_000017.11:g.61780991T>C	-
RCV000130967	p.Ile550Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780984A>C	ClinVar
RCV000636069	p.Ile550Met	missense variant	Familial cancer of breast	NC_000017.11:g.61780984A>C	ClinVar
rs587782254	p.Ile550Met	missense variant	-	NC_000017.11:g.61780984A>C	TOPMed,gnomAD
RCV000479209	p.Ile550Met	missense variant	-	NC_000017.11:g.61780984A>C	ClinVar
rs766302517	p.Ala551Thr	missense variant	-	NC_000017.11:g.61780983C>T	ExAC,gnomAD
RCV000582348	p.Ala551Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780983C>T	ClinVar
RCV000679777	p.Ala551Glu	missense variant	-	NC_000017.11:g.61780982G>T	ClinVar
RCV000567527	p.Ala551Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780987_61780991dup	ClinVar
RCV000481084	p.Ala551Val	missense variant	-	NC_000017.11:g.61780982G>A	ClinVar
RCV000217074	p.Ala551Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780982G>T	ClinVar
RCV000636090	p.Ala551Val	missense variant	Familial cancer of breast	NC_000017.11:g.61780982G>A	ClinVar
RCV000130386	p.Ala551Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780982G>A	ClinVar
RCV000663320	p.Ala551Glu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780982G>T	ClinVar
rs375246789	p.Ala551Glu	missense variant	-	NC_000017.11:g.61780982G>T	ESP,ExAC,TOPMed,gnomAD
rs766302517	p.Ala551Pro	missense variant	-	NC_000017.11:g.61780983C>G	ExAC,gnomAD
rs375246789	p.Ala551Val	missense variant	-	NC_000017.11:g.61780982G>A	ESP,ExAC,TOPMed,gnomAD
RCV000205457	p.Ala551Glu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780982G>T	ClinVar
rs369340666	p.Ile552Thr	missense variant	-	NC_000017.11:g.61780979A>G	ESP,ExAC,TOPMed,gnomAD
RCV000132461	p.Ile552Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780979A>G	ClinVar
RCV000662589	p.Ile552Thr	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780979A>G	ClinVar
RCV000204568	p.Ile552Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61780979A>G	ClinVar
RCV000215881	p.Ile552Thr	missense variant	-	NC_000017.11:g.61780979A>G	ClinVar
RCV000580779	p.Gln553His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780975T>G	ClinVar
rs876660693	p.Gln553His	missense variant	-	NC_000017.11:g.61780975T>G	-
RCV000590587	p.Gln554Glu	missense variant	-	NC_000017.11:g.61780974G>C	ClinVar
RCV000462805	p.Gln554Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61780974G>C	ClinVar
RCV000771280	p.Gln554Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780974G>A	ClinVar
RCV000702705	p.Gln554Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61780973del	ClinVar
RCV000218328	p.Gln554Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780974G>C	ClinVar
rs777217004	p.Gln554Glu	missense variant	-	NC_000017.11:g.61780974G>C	ExAC,TOPMed,gnomAD
rs1060501749	p.Gln554His	missense variant	-	NC_000017.11:g.61780972C>G	-
RCV000461047	p.Gln554His	missense variant	Familial cancer of breast	NC_000017.11:g.61780972C>G	ClinVar
RCV000781185	p.Gln554Arg	missense variant	-	NC_000017.11:g.61780973T>C	ClinVar
rs752797989	p.Tyr556His	missense variant	-	NC_000017.11:g.61780968A>G	ExAC,gnomAD
rs1375911072	p.Ser557Phe	missense variant	-	NC_000017.11:g.61780964G>A	gnomAD
RCV000636163	p.Trp558Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61780962A>G	ClinVar
rs767648925	p.Trp558Arg	missense variant	-	NC_000017.11:g.61780962A>G	ExAC,gnomAD
rs876658266	p.Thr559Arg	missense variant	-	NC_000017.11:g.61780958G>C	-
RCV000218161	p.Thr559Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780958G>C	ClinVar
RCV000232870	p.Thr559Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61780958G>C	ClinVar
rs1555602592	p.Asn560Ile	missense variant	-	NC_000017.11:g.61780955T>A	-
RCV000588788	p.Asn560Ile	missense variant	-	NC_000017.11:g.61780955T>A	ClinVar
rs1209325148	p.Gln561His	missense variant	-	NC_000017.11:g.61780951C>G	TOPMed
RCV000572976	p.Gln561His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780951C>G	ClinVar
rs1374464175	p.Ile562Met	missense variant	-	NC_000017.11:g.61780948A>C	gnomAD
RCV000160342	p.Ile562Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780950T>C	ClinVar
rs45533636	p.Ile562Val	missense variant	-	NC_000017.11:g.61780950T>C	ESP,ExAC,TOPMed,gnomAD
RCV000456914	p.Ile562Val	missense variant	Familial cancer of breast	NC_000017.11:g.61780950T>C	ClinVar
RCV000663029	p.Ile562Val	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780950T>C	ClinVar
RCV000212314	p.Ile562Val	missense variant	-	NC_000017.11:g.61780950T>C	ClinVar
RCV000227822	p.Asp563Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61780946T>C	ClinVar
rs577768294	p.Asp563Gly	missense variant	-	NC_000017.11:g.61780946T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000587318	p.Asp563Gly	missense variant	-	NC_000017.11:g.61780946T>C	ClinVar
RCV000218250	p.Asp563Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780946T>C	ClinVar
RCV000581220	p.Ile564Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780943A>G	ClinVar
RCV000686260	p.Ile564Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61780943A>G	ClinVar
rs1555602569	p.Ile564Val	missense variant	-	NC_000017.11:g.61780944T>C	-
rs755635967	p.Ile564Thr	missense variant	-	NC_000017.11:g.61780943A>G	-
RCV000562168	p.Ile564Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780944T>C	ClinVar
rs878855140	p.Asp566AspIleSerAsnTerTyrPheAsnAsnUnk	stop gained	-	NC_000017.11:g.61780936_61780937insGTTGTTGAAATATCAATTTGATATA	-
rs1289102059	p.Asp566Asn	missense variant	-	NC_000017.11:g.61780938C>T	gnomAD
RCV000483400	p.Lys567IleSerAsnTer	nonsense	-	NC_000017.11:g.61780936_61780937insGTTGTTGAAATATCAATTTGATATA	ClinVar
RCV000572341	p.Lys567IleSerAsnTer	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780936_61780937insGTTGTTGAAATATCAATTTGATATA	ClinVar
RCV000232677	p.Lys567IleSerAsnTer	nonsense	Familial cancer of breast	NC_000017.11:g.61780936_61780937insGTTGTTGAAATATCAATTTGATATA	ClinVar
RCV000636144	p.Asn568Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61780930A>C	ClinVar
RCV000221496	p.Asn568Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780930A>C	ClinVar
rs763458922	p.Asn568Lys	missense variant	-	NC_000017.11:g.61780930A>C	ExAC
RCV000663330	p.Asn568Ter	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780934_61780935del	ClinVar
RCV000416663	p.Asn568Ter	frameshift	Carcinoma of colon (CRC)	NC_000017.11:g.61780934_61780935del	ClinVar
RCV000477976	p.Asn568Ter	frameshift	-	NC_000017.11:g.61780934_61780935del	ClinVar
RCV000636137	p.Asn568Ter	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780934_61780935del	ClinVar
RCV000570267	p.Asn568Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780934_61780935del	ClinVar
rs373228183	p.Gly569Ala	missense variant	-	NC_000017.11:g.61780928C>G	ESP,ExAC,TOPMed,gnomAD
rs1259933364	p.Gly569Trp	missense variant	-	NC_000017.11:g.61780929C>A	TOPMed
RCV000636082	p.Gly569Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61780929C>G	ClinVar
rs1259933364	p.Gly569Arg	missense variant	-	NC_000017.11:g.61780929C>G	TOPMed
RCV000773588	p.Val572Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780920C>A	ClinVar
RCV000485697	p.Leu573Val	missense variant	-	NC_000017.11:g.61780917G>C	ClinVar
RCV000533781	p.Leu573Val	missense variant	Familial cancer of breast	NC_000017.11:g.61780917G>C	ClinVar
RCV000165469	p.Leu573Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780917G>C	ClinVar
rs786202587	p.Leu573Val	missense variant	-	NC_000017.11:g.61780917G>C	TOPMed,gnomAD
rs377302300	p.Pro574Leu	missense variant	-	NC_000017.11:g.61780913G>A	ESP,ExAC,TOPMed,gnomAD
RCV000230474	p.Pro574Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61780913G>A	ClinVar
RCV000484019	p.Pro574Leu	missense variant	-	NC_000017.11:g.61780913G>A	ClinVar
RCV000776859	p.Pro574Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780913G>T	ClinVar
RCV000562779	p.Pro574Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780913G>A	ClinVar
rs587778131	p.Asn576LysPheSerTerUnk	frameshift	-	NC_000017.11:g.61780906_61780907insT	NCI-TCGA,NCI-TCGA Cosmic
RCV000120390	p.Asn576Ter	frameshift	-	NC_000017.11:g.61780912dup	ClinVar
rs587778132	p.Asn576Ser	missense variant	-	NC_000017.11:g.61780907T>C	-
RCV000120391	p.Asn576Ser	missense variant	-	NC_000017.11:g.61780907T>C	ClinVar
rs1411869768	p.Lys577Met	missense variant	-	NC_000017.11:g.61780904T>A	TOPMed,gnomAD
RCV000705294	p.Lys577Met	missense variant	Familial cancer of breast	NC_000017.11:g.61780904T>A	ClinVar
rs768224857	p.Arg579His	missense variant	-	NC_000017.11:g.61780898C>T	ExAC,gnomAD
RCV000636129	p.Arg579His	missense variant	Familial cancer of breast	NC_000017.11:g.61780898C>T	ClinVar
RCV000221005	p.Arg579Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780898C>A	ClinVar
RCV000775419	p.Arg579His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780898C>T	ClinVar
RCV000116130	p.Arg579Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780899G>A	ClinVar
rs768224857	p.Arg579Leu	missense variant	-	NC_000017.11:g.61780898C>A	ExAC,gnomAD
rs28997571	p.Arg579Cys	missense variant	-	NC_000017.11:g.61780899G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs28997571	p.Arg579Ser	missense variant	-	NC_000017.11:g.61780899G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746494295	p.Ser580Ala	missense variant	-	NC_000017.11:g.61780896A>C	ExAC,gnomAD
rs1356014648	p.Ser580Leu	missense variant	-	NC_000017.11:g.61780895G>A	gnomAD
RCV000551078	p.Ser580Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61780895G>A	ClinVar
rs780020495	p.Arg581Ter	stop gained	-	NC_000017.11:g.61780893G>A	ExAC,gnomAD
RCV000785424	p.Arg581Ter	nonsense	Ovarian Neoplasms	NC_000017.11:g.61780893G>A	ClinVar
RCV000568917	p.Arg581Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780893G>A	ClinVar
RCV000804787	p.Arg581Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61780893G>A	ClinVar
RCV000503203	p.Arg581Ter	nonsense	Breast cancer, early-onset	NC_000017.11:g.61780893G>A	ClinVar
RCV000527065	p.Arg581Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61780892C>T	ClinVar
rs587778133	p.Arg581Gln	missense variant	-	NC_000017.11:g.61780892C>T	ExAC,TOPMed,gnomAD
RCV000221625	p.Arg581Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780892C>T	ClinVar
rs750288231	p.Gln582Arg	missense variant	-	NC_000017.11:g.61780889T>C	ExAC,gnomAD
RCV000222420	p.Lys583Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780886T>C	ClinVar
RCV000535277	p.Lys583Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61780886T>C	ClinVar
rs876658547	p.Lys583Arg	missense variant	-	NC_000017.11:g.61780886T>C	TOPMed
RCV000636131	p.Ala585Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61780880G>T	ClinVar
RCV000563409	p.Ala585Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780880_61780881delinsAA	ClinVar
RCV000589026	p.Ala585Glu	missense variant	-	NC_000017.11:g.61780880G>T	ClinVar
RCV000219324	p.Ala585Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780880G>T	ClinVar
rs756946068	p.Ala585Glu	missense variant	-	NC_000017.11:g.61780880G>T	ExAC,gnomAD
rs1555602479	p.Ala585Leu	missense variant	-	NC_000017.11:g.61780880_61780881delinsAA	-
NCI-TCGA novel	p.Ala585Val	missense variant	-	NC_000017.11:g.61780880G>A	NCI-TCGA
rs876660646	p.His587Leu	missense variant	-	NC_000017.11:g.61780874T>A	-
RCV000460900	p.His587Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61780874T>A	ClinVar
RCV000662848	p.His587Asp	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780875G>C	ClinVar
RCV000218989	p.His587Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780875G>C	ClinVar
RCV000219246	p.His587Leu	missense variant	-	NC_000017.11:g.61780874T>A	ClinVar
RCV000482369	p.His587Asp	missense variant	-	NC_000017.11:g.61780875G>C	ClinVar
RCV000473133	p.His587Asp	missense variant	Familial cancer of breast	NC_000017.11:g.61780875G>C	ClinVar
RCV000662901	p.His587Leu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780874T>A	ClinVar
RCV000216569	p.His587Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780874T>A	ClinVar
rs876660519	p.His587Asp	missense variant	-	NC_000017.11:g.61780875G>C	-
RCV000220033	p.Val588Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780872C>T	ClinVar
RCV000527441	p.Val588Met	missense variant	Familial cancer of breast	NC_000017.11:g.61780872C>T	ClinVar
rs876660355	p.Val588Met	missense variant	-	NC_000017.11:g.61780872C>T	-
rs1442606786	p.Leu589Val	missense variant	-	NC_000017.11:g.61780869G>C	TOPMed
RCV000774359	p.Asn590Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780866T>A	ClinVar
RCV000234466	p.Phe591Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61780863A>T	ClinVar
RCV000565787	p.Phe591Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780863A>T	ClinVar
RCV000217380	p.Phe591Ile	missense variant	-	NC_000017.11:g.61780863A>T	ClinVar
rs876661057	p.Phe591Ile	missense variant	-	NC_000017.11:g.61780863A>T	TOPMed,gnomAD
RCV000215063	p.Trp592Ter	nonsense	-	NC_000017.11:g.61780858C>T	ClinVar
RCV000116131	p.Trp592Gly	missense variant	-	NC_000017.11:g.61780860A>C	ClinVar
RCV000323088	p.Trp592Gly	missense variant	Neoplasm of the breast	NC_000017.11:g.61780860A>C	ClinVar
rs753023295	p.Trp592Ter	stop gained	-	NC_000017.11:g.61780858C>T	ExAC
rs587780231	p.Trp592Gly	missense variant	-	NC_000017.11:g.61780860A>C	-
RCV000380078	p.Trp592Gly	missense variant	Fanconi anemia (FA)	NC_000017.11:g.61780860A>C	ClinVar
RCV000687730	p.Leu594Phe	missense variant	Familial cancer of breast	NC_000017.11:g.61780852T>A	ClinVar
RCV000218008	p.Leu594Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780854A>C	ClinVar
RCV000457619	p.Leu594Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61780853A>G	ClinVar
rs587781559	p.Leu594Ser	missense variant	-	NC_000017.11:g.61780853A>G	ExAC,gnomAD
rs876658256	p.Leu594Val	missense variant	-	NC_000017.11:g.61780854A>C	-
RCV000129578	p.Leu594Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780853A>G	ClinVar
rs759727507	p.Asn595Ser	missense variant	-	NC_000017.11:g.61780850T>C	ExAC,gnomAD
RCV000205584	p.Pro596Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61780847G>A	ClinVar
RCV000564548	p.Pro596Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780847G>A	ClinVar
rs864622155	p.Pro596Leu	missense variant	-	NC_000017.11:g.61780847G>A	-
RCV000475483	p.Ala597Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61780844G>C	ClinVar
rs751667661	p.Ala597Val	missense variant	-	NC_000017.11:g.61780844G>A	ExAC,gnomAD
rs751667661	p.Ala597Gly	missense variant	-	NC_000017.11:g.61780844G>C	ExAC,gnomAD
rs876658510	p.Val598Ala	missense variant	-	NC_000017.11:g.61780841A>G	-
RCV000222289	p.Val598Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780841A>G	ClinVar
RCV000696107	p.Val598Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61780843del	ClinVar
RCV000226896	p.Phe600Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61780398A>G	ClinVar
rs745367580	p.Phe600Leu	missense variant	-	NC_000017.11:g.61780398A>G	ExAC,TOPMed,gnomAD
rs375625993	p.Phe600Leu	missense variant	-	NC_000017.11:g.61780396A>C	ESP,ExAC,TOPMed,gnomAD
rs1317946589	p.Ser601Ala	missense variant	-	NC_000017.11:g.61780395A>C	gnomAD
RCV000758990	p.Ser601Ala	missense variant	-	NC_000017.11:g.61780395A>C	ClinVar
COSM1589087	p.Ser601Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61780395A>G	NCI-TCGA Cosmic
RCV000758991	p.Asp602Tyr	missense variant	-	NC_000017.11:g.61780392C>A	ClinVar
RCV000580936	p.Asp602Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780391T>C	ClinVar
rs770750488	p.Asp602Tyr	missense variant	-	NC_000017.11:g.61780392C>A	ExAC,gnomAD
rs1555602221	p.Asp602Gly	missense variant	-	NC_000017.11:g.61780391T>C	-
rs1555602215	p.Ile603Asn	missense variant	-	NC_000017.11:g.61780388A>T	-
rs1555602215	p.Ile603Thr	missense variant	-	NC_000017.11:g.61780388A>G	-
RCV000796590	p.Ile603Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61780388A>T	ClinVar
RCV000780066	p.Ile603Thr	missense variant	-	NC_000017.11:g.61780388A>G	ClinVar
RCV000570378	p.Ile603Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780388A>G	ClinVar
RCV000568486	p.Ile603Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780388A>T	ClinVar
NCI-TCGA novel	p.Asn604Ser	missense variant	-	NC_000017.11:g.61780385T>C	NCI-TCGA
rs1386348664	p.Lys606Gln	missense variant	-	NC_000017.11:g.61780380T>G	gnomAD
RCV000566521	p.Lys606Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780380T>G	ClinVar
RCV000697689	p.Gln608His	missense variant	Familial cancer of breast	NC_000017.11:g.61780372C>G	ClinVar
RCV000590700	p.Thr609Ala	missense variant	-	NC_000017.11:g.61780371T>C	ClinVar
rs189758577	p.Thr609Ala	missense variant	-	NC_000017.11:g.61780371T>C	1000Genomes
RCV000528910	p.Thr609Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61780371T>C	ClinVar
RCV000581727	p.Thr609Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780371T>C	ClinVar
rs749200646	p.Ile610Val	missense variant	-	NC_000017.11:g.61780368T>C	ExAC,gnomAD
RCV000480949	p.Val611Ile	missense variant	-	NC_000017.11:g.61780365C>T	ClinVar
RCV000165836	p.Val611Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780365C>T	ClinVar
RCV000662932	p.Val611Ile	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780365C>T	ClinVar
RCV000233742	p.Val611Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61780365C>T	ClinVar
rs777741543	p.Val611Ile	missense variant	-	NC_000017.11:g.61780365C>T	ExAC,TOPMed,gnomAD
RCV000685488	p.Val611Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61780365del	ClinVar
rs864622345	p.Thr613Ile	missense variant	-	NC_000017.11:g.61780358G>A	TOPMed
RCV000204974	p.Thr613Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61780358G>A	ClinVar
RCV000569552	p.Thr613Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780358G>A	ClinVar
rs864622345	p.Thr613Arg	missense variant	-	NC_000017.11:g.61780358G>C	TOPMed
rs1555602203	p.Gly615Ser	missense variant	-	NC_000017.11:g.61780353C>T	-
RCV000573312	p.Gly615Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780353C>T	ClinVar
rs1397233707	p.Thr616Ala	missense variant	-	NC_000017.11:g.61780350T>C	gnomAD
rs1064794095	p.Leu617Ser	missense variant	-	NC_000017.11:g.61780346A>G	gnomAD
RCV000554110	p.Leu617Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61780346A>G	ClinVar
RCV000487183	p.Leu617Ser	missense variant	-	NC_000017.11:g.61780346A>G	ClinVar
RCV000456484	p.Ser618Pro	missense variant	Familial cancer of breast	NC_000017.11:g.61780344A>G	ClinVar
RCV000221008	p.Ser618Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780344A>G	ClinVar
NCI-TCGA novel	p.Ser618Ter	stop gained	-	NC_000017.11:g.61780343G>C	NCI-TCGA
rs876660191	p.Ser618Pro	missense variant	-	NC_000017.11:g.61780344A>G	-
RCV000556616	p.Pro619Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61780342_61780343insC	ClinVar
RCV000576417	p.Pro619Ter	frameshift	Neoplasm of ovary	NC_000017.11:g.61780342_61780343insC	ClinVar
RCV000130385	p.Pro619Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780342_61780343insC	ClinVar
RCV000409999	p.Pro619Ter	frameshift	Neoplasm of ovary	NC_000017.11:g.61780342_61780343insC	ClinVar
RCV000412318	p.Pro619Ter	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780342_61780343insC	ClinVar
RCV000522061	p.Pro619Ter	frameshift	-	NC_000017.11:g.61780342_61780343insC	ClinVar
RCV000530129	p.Met620Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61780337A>T	ClinVar
RCV000220360	p.Met620Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780338T>C	ClinVar
rs876658346	p.Met620Val	missense variant	-	NC_000017.11:g.61780338T>C	-
rs1555602185	p.Met620Lys	missense variant	-	NC_000017.11:g.61780337A>T	-
RCV000580589	p.Met620Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780337A>T	ClinVar
COSM1385010	p.Met620Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61780337A>C	NCI-TCGA Cosmic
COSM1589088	p.Met620Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61780336C>A	NCI-TCGA Cosmic
rs864622438	p.Phe623Ile	missense variant	-	NC_000017.11:g.61780329A>T	-
RCV000206329	p.Phe623Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61780329A>T	ClinVar
RCV000589135	p.Ser624Ter	nonsense	Hereditary breast and ovarian cancer syndrome (HBOC)	NC_000017.11:g.61780325G>T	ClinVar
RCV000254651	p.Ser624Ter	nonsense	-	NC_000017.11:g.61780325G>T	ClinVar
RCV000197937	p.Ser624Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61780325G>A	ClinVar
RCV000576387	p.Ser624Ter	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780325G>T	ClinVar
RCV000411705	p.Ser624Leu	missense variant	Neoplasm of ovary	NC_000017.11:g.61780325G>A	ClinVar
rs587781321	p.Ser624Ter	stop gained	-	NC_000017.11:g.61780325G>T	ExAC,TOPMed,gnomAD
rs587781321	p.Ser624Leu	missense variant	-	NC_000017.11:g.61780325G>A	ExAC,TOPMed,gnomAD
RCV000284654	p.Ser624Leu	missense variant	-	NC_000017.11:g.61780325G>A	ClinVar
RCV000129060	p.Ser624Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780325G>T	ClinVar
RCV000410706	p.Ser624Leu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780325G>A	ClinVar
RCV000166032	p.Ser624Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780325G>A	ClinVar
RCV000228701	p.Ser624Ter	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780325G>T	ClinVar
rs935011040	p.Ser625Pro	missense variant	-	NC_000017.11:g.61780323A>G	TOPMed,gnomAD
RCV000758992	p.Ser625Pro	missense variant	-	NC_000017.11:g.61780323A>G	ClinVar
RCV000568571	p.Ser625Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780323A>G	ClinVar
NCI-TCGA novel	p.Glu626Lys	missense variant	-	NC_000017.11:g.61780320C>T	NCI-TCGA
RCV000777527	p.Leu627His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780316A>T	ClinVar
rs1064794907	p.Gly628Asp	missense variant	-	NC_000017.11:g.61780313C>T	-
RCV000565485	p.Gly628Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780313_61780314delinsTA	ClinVar
rs1555602175	p.Gly628Tyr	missense variant	-	NC_000017.11:g.61780313_61780314delinsTA	-
RCV000478238	p.Gly628Val	missense variant	-	NC_000017.11:g.61780313C>A	ClinVar
rs1064794907	p.Gly628Val	missense variant	-	NC_000017.11:g.61780313C>A	-
RCV000818704	p.Gly628Val	missense variant	Familial cancer of breast	NC_000017.11:g.61780313C>A	ClinVar
RCV000583129	p.Gly628Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780313C>T	ClinVar
RCV000576145	p.Val629Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780311C>G	ClinVar
rs1555602164	p.Val629Leu	missense variant	-	NC_000017.11:g.61780311C>G	-
RCV000487110	p.Thr630Ter	frameshift	-	NC_000017.11:g.61780307del	ClinVar
RCV000584348	p.Thr630Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780308dup	ClinVar
RCV000636128	p.Thr630Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61780307G>T	ClinVar
rs780407946	p.Thr630Lys	missense variant	-	NC_000017.11:g.61780307G>T	ExAC
RCV000581967	p.Phe631Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780306del	ClinVar
RCV000576027	p.Thr632Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780302T>C	ClinVar
rs1555602149	p.Thr632Ala	missense variant	-	NC_000017.11:g.61780302T>C	-
RCV000217145	p.Ile633Leu	missense variant	-	NC_000017.11:g.61780299T>G	ClinVar
RCV000164796	p.Ile633Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780299T>G	ClinVar
rs765314472	p.Ile633Val	missense variant	-	NC_000017.11:g.61780299T>C	ExAC,TOPMed,gnomAD
RCV000662814	p.Ile633Met	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780297G>C	ClinVar
RCV000457977	p.Ile633Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61780299T>G	ClinVar
RCV000546290	p.Ile633Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61780298A>G	ClinVar
RCV000116132	p.Ile633Thr	missense variant	-	NC_000017.11:g.61780298A>G	ClinVar
RCV000781165	p.Ile633Met	missense variant	-	NC_000017.11:g.61780297G>C	ClinVar
RCV000220030	p.Ile633Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780297G>C	ClinVar
RCV000234693	p.Ile633Met	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780297G>C	ClinVar
rs765314472	p.Ile633Leu	missense variant	-	NC_000017.11:g.61780299T>G	ExAC,TOPMed,gnomAD
rs28997572	p.Ile633Met	missense variant	-	NC_000017.11:g.61780297G>C	UniProt,dbSNP
VAR_052192	p.Ile633Met	missense variant	-	NC_000017.11:g.61780297G>C	UniProt
rs587780232	p.Ile633Thr	missense variant	-	NC_000017.11:g.61780298A>G	-
rs28997572	p.Ile633Met	missense variant	-	NC_000017.11:g.61780297G>C	ExAC,TOPMed
rs1060501748	p.Gln634His	missense variant	-	NC_000017.11:g.61780294C>G	-
RCV000468940	p.Gln634His	missense variant	Familial cancer of breast	NC_000017.11:g.61780294C>G	ClinVar
rs754280136	p.Leu635Met	missense variant	-	NC_000017.11:g.61780293G>T	ExAC,TOPMed,gnomAD
rs1060501769	p.Glu636Lys	missense variant	-	NC_000017.11:g.61780290C>T	-
RCV000467890	p.Glu636Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61780290C>T	ClinVar
rs541203428	p.Ala637Ser	missense variant	-	NC_000017.11:g.61780287C>A	1000Genomes
RCV000709545	p.Ile640Thr	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780277A>G	ClinVar
COSM4390375	p.Ile640Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61780276G>C	NCI-TCGA Cosmic
rs1555602126	p.Ile641Thr	missense variant	-	NC_000017.11:g.61780274A>G	-
RCV000565083	p.Ile641Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780274A>G	ClinVar
NCI-TCGA novel	p.Lys642Asn	missense variant	-	NC_000017.11:g.61780270T>A	NCI-TCGA
NCI-TCGA novel	p.Ser644Ala	missense variant	-	NC_000017.11:g.61780266A>C	NCI-TCGA
COSM3520432	p.Ser644Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61780265G>A	NCI-TCGA Cosmic
RCV000216298	p.Gln645Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780262T>C	ClinVar
rs1254051324	p.Gln645His	missense variant	-	NC_000017.11:g.61780261C>G	TOPMed,gnomAD
RCV000571285	p.Gln645His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780261C>G	ClinVar
RCV000636187	p.Gln645His	missense variant	Familial cancer of breast	NC_000017.11:g.61780261C>G	ClinVar
rs876660648	p.Gln645Arg	missense variant	-	NC_000017.11:g.61780262T>C	-
rs786202760	p.Trp647Cys	missense variant	-	NC_000017.11:g.61776557C>G	TOPMed,gnomAD
RCV000412383	p.Trp647Cys	missense variant	Neoplasm of ovary	NC_000017.11:g.61776557C>A	ClinVar
RCV000565890	p.Trp647Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776557C>T	ClinVar
RCV000165735	p.Trp647Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776557C>A	ClinVar
RCV000690470	p.Trp647Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61776557C>T	ClinVar
RCV000584404	p.Trp647Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776558C>T	ClinVar
RCV000542964	p.Trp647Cys	missense variant	Familial cancer of breast	NC_000017.11:g.61776557C>A	ClinVar
RCV000410856	p.Trp647Cys	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61776557C>A	ClinVar
RCV000709542	p.Trp647Cys	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61776557C>G	ClinVar
rs1555601203	p.Trp647Ter	stop gained	-	NC_000017.11:g.61776558C>T	-
rs786202760	p.Trp647Cys	missense variant	-	NC_000017.11:g.61776557C>A	TOPMed,gnomAD
rs786202760	p.Trp647Cys	missense variant	Fanconi anemia complementation group J (FANCJ)	NC_000017.11:g.61776557C>A	UniProt,dbSNP
VAR_023703	p.Trp647Cys	missense variant	Fanconi anemia complementation group J (FANCJ)	NC_000017.11:g.61776557C>A	UniProt
rs786202760	p.Trp647Ter	stop gained	-	NC_000017.11:g.61776557C>T	TOPMed,gnomAD
RCV000223303	p.Val648Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776556C>T	ClinVar
RCV000469719	p.Val648Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61776556C>T	ClinVar
rs780475484	p.Val648Ile	missense variant	-	NC_000017.11:g.61776556C>T	ExAC,TOPMed,gnomAD
RCV000204591	p.Gly649Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61776552C>G	ClinVar
rs746066323	p.Gly649Asp	missense variant	-	NC_000017.11:g.61776552C>T	ExAC,gnomAD
rs746066323	p.Gly649Ala	missense variant	-	NC_000017.11:g.61776552C>G	ExAC,gnomAD
COSM69848	p.Thr650Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61776549G>A	NCI-TCGA Cosmic
rs757305097	p.Ile651Asn	missense variant	-	NC_000017.11:g.61776546A>T	ExAC,TOPMed,gnomAD
rs757305097	p.Ile651Thr	missense variant	-	NC_000017.11:g.61776546A>G	ExAC,TOPMed,gnomAD
RCV000218247	p.Ile651Thr	missense variant	-	NC_000017.11:g.61776546A>G	ClinVar
RCV000230038	p.Ile651Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61776546A>G	ClinVar
RCV000222634	p.Ile651Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776546A>G	ClinVar
RCV000580391	p.Ile651Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776546A>T	ClinVar
rs778867622	p.Ile651Val	missense variant	-	NC_000017.11:g.61776547T>C	ExAC,gnomAD
rs1555601190	p.Gly652Arg	missense variant	-	NC_000017.11:g.61776544C>T	-
RCV000581407	p.Gly652Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776544C>T	ClinVar
RCV000221905	p.Ser653Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776540G>A	ClinVar
RCV000798098	p.Ser653Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61776540G>A	ClinVar
rs756511744	p.Ser653Leu	missense variant	-	NC_000017.11:g.61776540G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser653Ter	stop gained	-	NC_000017.11:g.61776540G>C	NCI-TCGA
RCV000772413	p.Gly654Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776538C>T	ClinVar
RCV000570087	p.Pro655Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776535G>A	ClinVar
RCV000231802	p.Pro655Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61776535G>A	ClinVar
rs767872111	p.Pro655Arg	missense variant	-	NC_000017.11:g.61776534G>C	ExAC,gnomAD
rs753036322	p.Pro655Ser	missense variant	-	NC_000017.11:g.61776535G>A	ExAC,TOPMed
rs1064793415	p.Lys656Asn	missense variant	-	NC_000017.11:g.61776530C>A	gnomAD
rs1322017079	p.Lys656Thr	missense variant	-	NC_000017.11:g.61776531T>G	TOPMed
RCV000695284	p.Lys656Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61776531T>C	ClinVar
RCV000480342	p.Lys656Asn	missense variant	-	NC_000017.11:g.61776530C>A	ClinVar
RCV000537071	p.Gly657Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61776530del	ClinVar
RCV000583417	p.Gly657Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776530del	ClinVar
rs1051619247	p.Gly657Arg	missense variant	-	NC_000017.11:g.61776529C>G	TOPMed,gnomAD
RCV000460306	p.Arg658Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61776525C>T	ClinVar
RCV000575276	p.Arg658Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776525C>T	ClinVar
rs759142191	p.Arg658Gln	missense variant	-	NC_000017.11:g.61776525C>T	ExAC,gnomAD
rs786203170	p.Arg658Trp	missense variant	-	NC_000017.11:g.61776526G>A	TOPMed,gnomAD
RCV000781168	p.Arg658Gln	missense variant	-	NC_000017.11:g.61776525C>T	ClinVar
RCV000409454	p.Arg658Trp	missense variant	Neoplasm of ovary	NC_000017.11:g.61776526G>A	ClinVar
RCV000166362	p.Arg658Trp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776526G>A	ClinVar
RCV000411903	p.Arg658Trp	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61776526G>A	ClinVar
RCV000205396	p.Arg658Trp	missense variant	Familial cancer of breast	NC_000017.11:g.61776526G>A	ClinVar
RCV000774222	p.Arg658Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776526G>C	ClinVar
rs1213142447	p.Asn659Ser	missense variant	-	NC_000017.11:g.61776522T>C	TOPMed
NCI-TCGA novel	p.Asn659Thr	missense variant	-	NC_000017.11:g.61776522T>G	NCI-TCGA
RCV000775735	p.Leu660Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776520G>A	ClinVar
rs1060501746	p.Leu660Phe	missense variant	-	NC_000017.11:g.61776520G>A	-
RCV000464396	p.Leu660Phe	missense variant	Familial cancer of breast	NC_000017.11:g.61776520G>A	ClinVar
RCV000213851	p.Cys661Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776517A>C	ClinVar
rs1160736353	p.Cys661Ser	missense variant	-	NC_000017.11:g.61776516C>G	gnomAD
rs876660402	p.Cys661Gly	missense variant	-	NC_000017.11:g.61776517A>C	gnomAD
rs876660402	p.Cys661Arg	missense variant	-	NC_000017.11:g.61776517A>G	gnomAD
RCV000568340	p.Cys661Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776516C>T	ClinVar
rs1160736353	p.Cys661Tyr	missense variant	-	NC_000017.11:g.61776516C>T	gnomAD
RCV000167392	p.Ala662Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776514C>T	ClinVar
RCV000521753	p.Ala662Thr	missense variant	-	NC_000017.11:g.61776514C>T	ClinVar
rs571340013	p.Ala662Pro	missense variant	-	NC_000017.11:g.61776514C>G	1000Genomes,TOPMed,gnomAD
rs571340013	p.Ala662Thr	missense variant	-	NC_000017.11:g.61776514C>T	1000Genomes,TOPMed,gnomAD
RCV000168048	p.Ala662Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61776514C>T	ClinVar
RCV000708687	p.Thr663Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776511T>C	ClinVar
rs765816425	p.Asn666Asp	missense variant	-	NC_000017.11:g.61776502T>C	ExAC,gnomAD
rs1555601107	p.Phe670Ser	missense variant	-	NC_000017.11:g.61776489A>G	-
rs762535496	p.Phe670Leu	missense variant	-	NC_000017.11:g.61776488A>T	ExAC,gnomAD
RCV000636174	p.Phe670Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61776489A>G	ClinVar
RCV000484507	p.Glu671Ter	nonsense	-	NC_000017.11:g.61776490dup	ClinVar
RCV000205261	p.Glu671Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61776490dup	ClinVar
RCV000780061	p.Glu671Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61776490dup	ClinVar
RCV000167209	p.Glu671Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776490dup	ClinVar
RCV000120394	p.Glu671Gly	missense variant	-	NC_000017.11:g.61776486T>C	ClinVar
rs587778135	p.Glu671Gly	missense variant	-	NC_000017.11:g.61776486T>C	TOPMed
COSM1133498	p.Glu671Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61776487C>G	NCI-TCGA Cosmic
RCV000574351	p.Phe672Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776483delinsGG	ClinVar
rs786203619	p.Gln673Arg	missense variant	-	NC_000017.11:g.61776480T>C	-
RCV000544477	p.Gln673Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61776480T>C	ClinVar
RCV000167010	p.Gln673Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776480T>C	ClinVar
RCV000759703	p.Gln673Arg	missense variant	-	NC_000017.11:g.61776480T>C	ClinVar
rs1555601087	p.Asp674Gly	missense variant	-	NC_000017.11:g.61776477T>C	-
RCV000580481	p.Asp674Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776476A>T	ClinVar
RCV000636077	p.Asp674Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61776477T>C	ClinVar
RCV000705505	p.Asp674Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61776478C>T	ClinVar
rs1555601084	p.Asp674Glu	missense variant	-	NC_000017.11:g.61776476A>T	-
COSM1135975	p.Asp674Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61776478C>A	NCI-TCGA Cosmic
RCV000575692	p.Glu675Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776474T>G	ClinVar
rs1555601081	p.Glu675Ala	missense variant	-	NC_000017.11:g.61776474T>G	-
RCV000566798	p.Val676Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776471A>C	ClinVar
rs1555601076	p.Val676Gly	missense variant	-	NC_000017.11:g.61776471A>C	-
RCV000686741	p.Gly677Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61776468C>T	ClinVar
RCV000562530	p.Gly677Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776469C>T	ClinVar
RCV000563344	p.Gly677Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776470del	ClinVar
rs1555601069	p.Gly677Arg	missense variant	-	NC_000017.11:g.61776469C>T	-
rs1211313166	p.Ala678Val	missense variant	-	NC_000017.11:g.61776465G>A	gnomAD
RCV000701584	p.Leu679Phe	missense variant	Familial cancer of breast	NC_000017.11:g.61776463G>A	ClinVar
RCV000568892	p.Leu679Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776463G>A	ClinVar
rs1555601056	p.Leu679Phe	missense variant	-	NC_000017.11:g.61776463G>A	-
RCV000582871	p.Leu680Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776458_61776462del	ClinVar
RCV000636139	p.Leu680Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61776461_61776462del	ClinVar
rs773347072	p.Val683Leu	missense variant	-	NC_000017.11:g.61776451C>G	ExAC,gnomAD
rs1294492499	p.Val683Gly	missense variant	-	NC_000017.11:g.61776450A>C	gnomAD
RCV000698055	p.Val683Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61776450A>C	ClinVar
RCV000575611	p.Val683Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776450A>C	ClinVar
RCV000663038	p.Gln685Ter	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61776445G>A	ClinVar
rs876659533	p.Gln685Ter	stop gained	-	NC_000017.11:g.61776445G>A	TOPMed,gnomAD
COSM1385006	p.Gln685Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61776444T>G	NCI-TCGA Cosmic
rs769820537	p.Thr686Ala	missense variant	-	NC_000017.11:g.61776442T>C	ExAC,gnomAD
RCV000587464	p.Thr686Ala	missense variant	-	NC_000017.11:g.61776442T>C	ClinVar
RCV000536608	p.Thr686Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61776442T>C	ClinVar
RCV000215398	p.Val687Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776439C>T	ClinVar
RCV000525384	p.Val687Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61776438A>G	ClinVar
rs876659296	p.Val687Met	missense variant	-	NC_000017.11:g.61776439C>T	-
rs1555601030	p.Val687Ala	missense variant	-	NC_000017.11:g.61776438A>G	-
RCV000225925	p.Gly690Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61776429C>T	ClinVar
RCV000572253	p.Gly690Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776429C>T	ClinVar
rs878855144	p.Gly690Glu	missense variant	-	NC_000017.11:g.61776429C>T	-
RCV000229910	p.Ile691Leu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61776427T>G	ClinVar
RCV000410807	p.Ile691Leu	missense variant	Neoplasm of ovary	NC_000017.11:g.61776427T>G	ClinVar
RCV000131304	p.Ile691Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776427T>G	ClinVar
RCV000212317	p.Ile691Leu	missense variant	-	NC_000017.11:g.61776427T>G	ClinVar
RCV000409629	p.Ile691Leu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61776427T>G	ClinVar
rs587782356	p.Ile691Leu	missense variant	-	NC_000017.11:g.61776427T>G	gnomAD
rs1465283737	p.Phe694Val	missense variant	-	NC_000017.11:g.61776418A>C	gnomAD
COSM6147713	p.Phe694Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61776416G>C	NCI-TCGA Cosmic
rs147755155	p.Pro696Leu	missense variant	-	NC_000017.11:g.61776411G>A	ESP,ExAC,TOPMed,gnomAD
RCV000204798	p.Pro696Leu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61776411G>A	ClinVar
RCV000212318	p.Pro696Leu	missense variant	-	NC_000017.11:g.61776411G>A	ClinVar
RCV000116135	p.Pro696Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776411G>A	ClinVar
RCV000461704	p.Pro696Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61776413dup	ClinVar
RCV000781170	p.Pro696Leu	missense variant	-	NC_000017.11:g.61776411G>A	ClinVar
RCV000662731	p.Pro696Leu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61776411G>A	ClinVar
RCV000759705	p.Tyr698Cys	missense variant	-	NC_000017.11:g.61776405T>C	ClinVar
RCV000573931	p.Lys699Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776403T>C	ClinVar
rs1555601002	p.Lys699Glu	missense variant	-	NC_000017.11:g.61776403T>C	-
rs876658270	p.Leu701Ser	missense variant	-	NC_000017.11:g.61744587A>G	-
rs876658270	p.Leu701Ter	stop gained	-	NC_000017.11:g.61744587A>C	-
RCV000423786	p.Leu701Ter	nonsense	-	NC_000017.11:g.61744587A>C	ClinVar
RCV000222016	p.Leu701Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744587A>G	ClinVar
RCV000573366	p.Glu702Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744585C>G	ClinVar
rs1555591547	p.Glu702Gln	missense variant	-	NC_000017.11:g.61744585C>G	-
RCV000579457	p.Lys703Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744582T>G	ClinVar
rs756412722	p.Lys703Ile	missense variant	-	NC_000017.11:g.61744581T>A	ExAC,gnomAD
rs762590242	p.Lys703Gln	missense variant	-	NC_000017.11:g.61744582T>G	ExAC,gnomAD
RCV000636132	p.Leu704Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61744578A>T	ClinVar
rs1057517643	p.Leu704Ter	stop gained	-	NC_000017.11:g.61744578A>T	-
RCV000216913	p.Lys705Ter	frameshift	-	NC_000017.11:g.61744573_61744577del	ClinVar
RCV000569882	p.Lys705Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744573_61744577del	ClinVar
RCV000204583	p.Lys705Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61744573_61744577del	ClinVar
RCV000662725	p.Lys705Ter	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61744573_61744577del	ClinVar
RCV000213828	p.Arg707Cys	missense variant	-	NC_000017.11:g.61744570G>A	ClinVar
RCV000561689	p.Arg707Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744570G>A	ClinVar
RCV000584331	p.Arg707Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744569C>A	ClinVar
RCV000702861	p.Arg707His	missense variant	Familial cancer of breast	NC_000017.11:g.61744569C>T	ClinVar
RCV000480168	p.Arg707His	missense variant	-	NC_000017.11:g.61744569C>T	ClinVar
RCV000583533	p.Arg707His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744569C>T	ClinVar
RCV000227729	p.Arg707Cys	missense variant	Familial cancer of breast	NC_000017.11:g.61744570G>A	ClinVar
RCV000475605	p.Arg707Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61744569C>A	ClinVar
rs200313471	p.Arg707Leu	missense variant	-	NC_000017.11:g.61744569C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs764803896	p.Arg707Cys	missense variant	-	NC_000017.11:g.61744570G>A	ExAC,gnomAD
rs200313471	p.Arg707His	missense variant	-	NC_000017.11:g.61744569C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp708Cys	missense variant	-	NC_000017.11:g.61744565C>G	NCI-TCGA
RCV000776961	p.Leu709Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744563A>G	ClinVar
rs1555591505	p.Ser710Ala	missense variant	-	NC_000017.11:g.61744561A>C	-
rs768393936	p.Ser710Cys	missense variant	-	NC_000017.11:g.61744560G>C	ExAC,TOPMed,gnomAD
rs768393936	p.Ser710Phe	missense variant	-	NC_000017.11:g.61744560G>A	ExAC,TOPMed,gnomAD
RCV000580045	p.Ser710Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744561A>C	ClinVar
rs1248938894	p.Thr711Ile	missense variant	-	NC_000017.11:g.61744557G>A	TOPMed
RCV000781187	p.Thr711Ala	missense variant	-	NC_000017.11:g.61744558T>C	ClinVar
RCV000568562	p.Thr711Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744558T>C	ClinVar
RCV000526515	p.Thr711Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61744558T>C	ClinVar
rs760515227	p.Thr711Ala	missense variant	-	NC_000017.11:g.61744558T>C	ExAC
RCV000692158	p.Gly712Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61744556del	ClinVar
rs1060501755	p.Gly712Val	missense variant	-	NC_000017.11:g.61744554C>A	gnomAD
rs1060501755	p.Gly712Asp	missense variant	-	NC_000017.11:g.61744554C>T	gnomAD
RCV000468222	p.Gly712Val	missense variant	Familial cancer of breast	NC_000017.11:g.61744554C>A	ClinVar
RCV000229169	p.Leu713Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61744551A>C	ClinVar
rs878855145	p.Leu713Ter	stop gained	-	NC_000017.11:g.61744551A>C	-
RCV000776601	p.Trp714Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744547C>T	ClinVar
rs1253181575	p.His715Arg	missense variant	-	NC_000017.11:g.61744545T>C	gnomAD
rs1060501745	p.Asn716Asp	missense variant	-	NC_000017.11:g.61744543T>C	TOPMed
RCV000563216	p.Asn716Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744543T>C	ClinVar
RCV000465706	p.Asn716Asp	missense variant	Familial cancer of breast	NC_000017.11:g.61744543T>C	ClinVar
rs1060501745	p.Asn716His	missense variant	-	NC_000017.11:g.61744543T>G	TOPMed
COSM1479823	p.Leu717Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61744540G>C	NCI-TCGA Cosmic
rs774478325	p.Glu718Gln	missense variant	-	NC_000017.11:g.61744537C>G	ExAC,TOPMed,gnomAD
RCV000581314	p.Val720Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744531C>T	ClinVar
RCV000800859	p.Val720Met	missense variant	Familial cancer of breast	NC_000017.11:g.61744531C>T	ClinVar
rs1555591459	p.Val720Met	missense variant	-	NC_000017.11:g.61744531C>T	-
rs1555591453	p.Thr722Ser	missense variant	-	NC_000017.11:g.61744525T>A	-
RCV000579729	p.Thr722Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744525T>A	ClinVar
COSM1147835	p.Thr722Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61744525T>C	NCI-TCGA Cosmic
rs145616741	p.Val723Ile	missense variant	-	NC_000017.11:g.61744522C>T	ESP
RCV000222035	p.Val723Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744522C>T	ClinVar
RCV000222292	p.Val723Ile	missense variant	-	NC_000017.11:g.61744522C>T	ClinVar
RCV000636157	p.Val723Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61744522C>T	ClinVar
rs1312043643	p.Ile724Thr	missense variant	-	NC_000017.11:g.61744518A>G	gnomAD
rs1236873736	p.Val725Ile	missense variant	-	NC_000017.11:g.61744516C>T	gnomAD
RCV000694607	p.Val725Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61744516C>T	ClinVar
rs1236873736	p.Val725Ile	missense variant	-	NC_000017.11:g.61744516C>T	NCI-TCGA Cosmic
RCV000539238	p.Glu726Asp	missense variant	Familial cancer of breast	NC_000017.11:g.61744511T>G	ClinVar
RCV000214009	p.Glu726Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744513C>T	ClinVar
rs1555591425	p.Glu726Asp	missense variant	-	NC_000017.11:g.61744511T>G	-
rs876659826	p.Glu726Lys	missense variant	-	NC_000017.11:g.61744513C>T	-
rs769797684	p.Pro727Ala	missense variant	-	NC_000017.11:g.61744510G>C	ExAC,TOPMed,gnomAD
rs876659309	p.Pro727Leu	missense variant	-	NC_000017.11:g.61744509G>A	TOPMed
RCV000484955	p.Pro727Thr	missense variant	-	NC_000017.11:g.61744510G>T	ClinVar
RCV000481353	p.Pro727Leu	missense variant	-	NC_000017.11:g.61744509G>A	ClinVar
RCV000219308	p.Pro727Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744509G>A	ClinVar
RCV000469514	p.Pro727Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61744509G>A	ClinVar
rs769797684	p.Pro727Ser	missense variant	-	NC_000017.11:g.61744510G>A	ExAC,TOPMed,gnomAD
rs769797684	p.Pro727Thr	missense variant	-	NC_000017.11:g.61744510G>T	ExAC,TOPMed,gnomAD
rs1296238058	p.Gln728Glu	missense variant	-	NC_000017.11:g.61744507G>C	TOPMed
RCV000566354	p.Gly729Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744504C>T	ClinVar
RCV000556236	p.Gly729Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61744504C>T	ClinVar
rs1555591407	p.Gly729Arg	missense variant	-	NC_000017.11:g.61744504C>T	-
rs1404094308	p.Gly729Glu	missense variant	-	NC_000017.11:g.61744503C>T	TOPMed
RCV000573512	p.Gly730Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744500C>T	ClinVar
RCV000636134	p.Gly730Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61744500C>T	ClinVar
rs748616469	p.Gly730Glu	missense variant	-	NC_000017.11:g.61744500C>T	ExAC,TOPMed,gnomAD
COSM4835456	p.Glu731Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61744498C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn734His	missense variant	-	NC_000017.11:g.61744489T>G	NCI-TCGA
rs1353526212	p.Phe735Leu	missense variant	-	NC_000017.11:g.61744486A>G	TOPMed
RCV000657812	p.Asp736Ter	nonsense	-	NC_000017.11:g.61744487dup	ClinVar
RCV000703182	p.Asp736Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61744487dup	ClinVar
rs755361298	p.Glu737Gly	missense variant	-	NC_000017.11:g.61744479T>C	ExAC,gnomAD
RCV000772594	p.Leu738Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744477A>C	ClinVar
RCV000777105	p.Leu738Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744477A>T	ClinVar
rs587780234	p.Leu739Pro	missense variant	-	NC_000017.11:g.61744473A>G	TOPMed,gnomAD
RCV000116136	p.Leu739Pro	missense variant	-	NC_000017.11:g.61744473A>G	ClinVar
RCV000526865	p.Leu739Pro	missense variant	Familial cancer of breast	NC_000017.11:g.61744473A>G	ClinVar
rs1555591361	p.Gln740Ter	stop gained	-	NC_000017.11:g.61744471G>A	-
rs45589637	p.Gln740His	missense variant	-	NC_000017.11:g.61744469C>A	ESP,ExAC,TOPMed,gnomAD
RCV000581423	p.Gln740Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744471G>A	ClinVar
RCV000131414	p.Gln740His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744469C>A	ClinVar
RCV000120396	p.Gln740His	missense variant	-	NC_000017.11:g.61744469C>A	ClinVar
rs45589637	p.Gln740His	missense variant	-	NC_000017.11:g.61744469C>G	ESP,ExAC,TOPMed,gnomAD
RCV000488342	p.Gln740His	missense variant	-	NC_000017.11:g.61744469C>A	ClinVar
RCV000534157	p.Gln740Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61744471del	ClinVar
RCV000700250	p.Val741Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61744469dup	ClinVar
rs1310861578	p.ValTyr741ValTerTyr	stop gained	-	NC_000017.11:g.61744464_61744466dup	gnomAD
rs1308293137	p.Val741Leu	missense variant	-	NC_000017.11:g.61744468C>G	TOPMed
rs1555591357	p.Val741Ala	missense variant	-	NC_000017.11:g.61744467A>G	-
RCV000564166	p.Val741Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744467A>G	ClinVar
rs1555591351	p.Tyr742Ser	missense variant	-	NC_000017.11:g.61744464T>G	-
rs1555591351	p.Tyr742Phe	missense variant	-	NC_000017.11:g.61744464T>A	-
RCV000759707	p.Tyr742Ser	missense variant	-	NC_000017.11:g.61744464T>G	ClinVar
RCV000801819	p.Tyr742Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61744464T>G	ClinVar
RCV000636124	p.Tyr742Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61744464_61744466dup	ClinVar
RCV000561359	p.Tyr742Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744464T>A	ClinVar
RCV000573545	p.Tyr742Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744464T>G	ClinVar
RCV000636127	p.Tyr743Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61744461T>G	ClinVar
RCV000166681	p.Tyr743Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744461T>G	ClinVar
rs750033391	p.Tyr743Ser	missense variant	-	NC_000017.11:g.61744461T>G	ExAC,gnomAD
rs750033391	p.Tyr743Cys	missense variant	-	NC_000017.11:g.61744461T>C	ExAC,gnomAD
rs374362388	p.Asp744Glu	missense variant	-	NC_000017.11:g.61744457G>C	ESP,ExAC,TOPMed,gnomAD
rs1555591345	p.Asp744Val	missense variant	-	NC_000017.11:g.61744458T>A	-
RCV000582694	p.Asp744Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744458T>A	ClinVar
RCV000502318	p.Asp744Glu	missense variant	-	NC_000017.11:g.61744457G>C	ClinVar
RCV000583929	p.Asp744Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744457G>C	ClinVar
rs587780235	p.Ala745Thr	missense variant	-	NC_000017.11:g.61744456C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000477497	p.Ala745Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61744456C>T	ClinVar
RCV000116137	p.Ala745Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744456C>T	ClinVar
rs587780235	p.Ala745Thr	missense variant	-	NC_000017.11:g.61744456C>T	ExAC,TOPMed,gnomAD
RCV000586157	p.Ala745Thr	missense variant	-	NC_000017.11:g.61744456C>T	ClinVar
RCV000662754	p.Ala745Thr	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61744456C>T	ClinVar
COSM1153121	p.Ala745Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61744455G>A	NCI-TCGA Cosmic
RCV000194594	p.Ala745Thr	missense variant	-	NC_000017.11:g.61744456C>T	ClinVar
rs111536363	p.Ile746Val	missense variant	-	NC_000017.11:g.61744453T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000551045	p.Ile746Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61744452_61744455del	ClinVar
RCV000132220	p.Ile746Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744452_61744455del	ClinVar
RCV000354192	p.Ile746Val	missense variant	Fanconi anemia (FA)	NC_000017.11:g.61744453T>C	ClinVar
RCV000296906	p.Ile746Val	missense variant	Neoplasm of the breast	NC_000017.11:g.61744453T>C	ClinVar
rs1257401983	p.Tyr748Ter	stop gained	-	NC_000017.11:g.61744445G>C	TOPMed
RCV000504601	p.Tyr748Ter	nonsense	Neoplasm of the breast	NC_000017.11:g.61744445G>C	ClinVar
RCV000694900	p.Tyr748Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61744445G>C	ClinVar
NCI-TCGA novel	p.Tyr748Cys	missense variant	-	NC_000017.11:g.61744446T>C	NCI-TCGA
RCV000576013	p.Tyr748Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744445G>C	ClinVar
RCV000484256	p.Lys749Asn	missense variant	-	NC_000017.11:g.61744442T>A	ClinVar
RCV000131774	p.Lys749Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744442T>A	ClinVar
RCV000467599	p.Lys749Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61744442T>A	ClinVar
rs587782556	p.Lys749Asn	missense variant	-	NC_000017.11:g.61744442T>A	TOPMed
RCV000775417	p.Gly750Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744440C>A	ClinVar
rs764061653	p.Gly750Val	missense variant	-	NC_000017.11:g.61744440C>A	NCI-TCGA
rs764061653	p.Gly750Val	missense variant	-	NC_000017.11:g.61744440C>A	ExAC,gnomAD
RCV000562106	p.Glu751Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744438C>G	ClinVar
rs760438320	p.Glu751Gln	missense variant	-	NC_000017.11:g.61744438C>G	ExAC
RCV000587824	p.Lys752Ter	frameshift	Hereditary breast and ovarian cancer syndrome (HBOC)	NC_000017.11:g.61744434_61744435del	ClinVar
RCV000662905	p.Lys752Ter	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61744434_61744435del	ClinVar
RCV000212320	p.Lys752Ter	frameshift	-	NC_000017.11:g.61744434_61744435del	ClinVar
RCV000160364	p.Lys752Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744434_61744435del	ClinVar
rs876659651	p.Lys752Gln	missense variant	-	NC_000017.11:g.61744435T>G	-
RCV000167986	p.Lys752Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61744434_61744435del	ClinVar
RCV000217131	p.Lys752Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744434T>C	ClinVar
RCV000215789	p.Lys752Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744435T>G	ClinVar
rs876660016	p.Lys752Arg	missense variant	-	NC_000017.11:g.61744434T>C	-
RCV000234088	p.Asp753Gly	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61743134T>C	ClinVar
RCV000662914	p.Asp753Gly	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61743134T>C	ClinVar
rs745578572	p.Asp753Gly	missense variant	-	NC_000017.11:g.61743134T>C	ExAC,TOPMed,gnomAD
RCV000164317	p.Asp753Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743134T>C	ClinVar
NCI-TCGA novel	p.Gly754Val	missense variant	-	NC_000017.11:g.61743131C>A	NCI-TCGA
RCV000812413	p.Ala755Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61743128G>C	ClinVar
RCV000777059	p.Ala755Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743128G>C	ClinVar
rs1555590565	p.Ala755Val	missense variant	-	NC_000017.11:g.61743128G>A	-
RCV000636159	p.Ala755Val	missense variant	Familial cancer of breast	NC_000017.11:g.61743128G>A	ClinVar
NCI-TCGA novel	p.Ala755Asp	missense variant	-	NC_000017.11:g.61743128G>T	NCI-TCGA
rs1213182039	p.Leu757Pro	missense variant	-	NC_000017.11:g.61743122A>G	gnomAD
rs1192826909	p.Val758Ile	missense variant	-	NC_000017.11:g.61743120C>T	TOPMed
RCV000116138	p.Ala759Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743119dup	ClinVar
RCV000576781	p.Ala759Ter	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61743119dup	ClinVar
RCV000258967	p.Ala759Ter	frameshift	-	NC_000017.11:g.61743119dup	ClinVar
RCV000636094	p.Ala759Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61743119dup	ClinVar
RCV000777049	p.Cys761Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743110C>G	ClinVar
RCV000572550	p.Cys761Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743111A>C	ClinVar
RCV000792444	p.Cys761Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61743110C>G	ClinVar
RCV000564352	p.Cys761Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743113del	ClinVar
rs1422958547	p.Cys761Gly	missense variant	-	NC_000017.11:g.61743111A>C	TOPMed
RCV000545443	p.Cys761Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61743111A>C	ClinVar
RCV000806586	p.Arg762Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61743107C>A	ClinVar
RCV000573939	p.Arg762Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743107C>A	ClinVar
RCV000227922	p.Arg762His	missense variant	Familial cancer of breast	NC_000017.11:g.61743107C>T	ClinVar
rs200960251	p.Arg762His	missense variant	-	NC_000017.11:g.61743107C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000164605	p.Arg762His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743107C>T	ClinVar
RCV000561123	p.Arg762Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743107C>G	ClinVar
RCV000120398	p.Arg762Cys	missense variant	-	NC_000017.11:g.61743108G>A	ClinVar
rs200960251	p.Arg762His	missense variant	-	NC_000017.11:g.61743107C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200960251	p.Arg762Leu	missense variant	-	NC_000017.11:g.61743107C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs587778136	p.Arg762Cys	missense variant	-	NC_000017.11:g.61743108G>A	ExAC,TOPMed,gnomAD
rs200960251	p.Arg762Pro	missense variant	-	NC_000017.11:g.61743107C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000663145	p.Arg762His	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61743107C>T	ClinVar
RCV000590146	p.Arg762His	missense variant	-	NC_000017.11:g.61743107C>T	ClinVar
RCV000553339	p.Arg762Tyr	missense variant	Familial cancer of breast	NC_000017.11:g.61743107_61743108delinsTA	ClinVar
rs1555590511	p.Arg762Tyr	missense variant	-	NC_000017.11:g.61743107_61743108delinsTA	-
rs876660890	p.Gly763Arg	missense variant	-	NC_000017.11:g.61743105C>G	-
RCV000217157	p.Gly763Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743105C>G	ClinVar
rs371484780	p.Gly763Asp	missense variant	-	NC_000017.11:g.61743104C>T	ESP,ExAC,TOPMed,gnomAD
rs1555590489	p.Val765Met	missense variant	-	NC_000017.11:g.61743099C>T	-
RCV000575297	p.Val765Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743099C>T	ClinVar
RCV000580498	p.Glu767Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743091C>G	ClinVar
rs369434185	p.Glu767Asp	missense variant	-	NC_000017.11:g.61743091C>G	ESP,ExAC,TOPMed,gnomAD
rs1555590457	p.Asp770Gly	missense variant	-	NC_000017.11:g.61743083T>C	-
RCV000636107	p.Asp770Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61743083T>C	ClinVar
rs1298345650	p.Phe771Leu	missense variant	-	NC_000017.11:g.61743079G>C	gnomAD
rs146091205	p.Asp773Asn	missense variant	-	NC_000017.11:g.61743075C>T	ESP,ExAC,TOPMed,gnomAD
rs992780498	p.Asp774Gly	missense variant	-	NC_000017.11:g.61743071T>C	gnomAD
RCV000580132	p.Asp774Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743071T>C	ClinVar
rs375146450	p.Asn775Lys	missense variant	-	NC_000017.11:g.61743067A>C	ESP,ExAC,TOPMed,gnomAD
RCV000120397	p.Asn775Ser	missense variant	-	NC_000017.11:g.61743068T>C	ClinVar
RCV000571248	p.Asn775Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743067A>C	ClinVar
rs1462414397	p.Asn775Asp	missense variant	-	NC_000017.11:g.61743069T>C	gnomAD
rs571108955	p.Asn775Ser	missense variant	-	NC_000017.11:g.61743068T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000520323	p.Asn775Lys	missense variant	-	NC_000017.11:g.61743067A>C	ClinVar
RCV000206272	p.Asn775Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61743067A>C	ClinVar
rs1555590421	p.Ala776Asp	missense variant	-	NC_000017.11:g.61743065G>T	-
RCV000636070	p.Ala776Asp	missense variant	Familial cancer of breast	NC_000017.11:g.61743065G>T	ClinVar
RCV000772410	p.Arg777Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743062C>G	ClinVar
RCV000529694	p.Arg777Cys	missense variant	Familial cancer of breast	NC_000017.11:g.61743063G>A	ClinVar
rs768555161	p.Arg777Cys	missense variant	-	NC_000017.11:g.61743063G>A	ExAC,TOPMed,gnomAD
RCV000636177	p.Arg777His	missense variant	Familial cancer of breast	NC_000017.11:g.61743062C>T	ClinVar
RCV000164534	p.Arg777Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743063G>A	ClinVar
RCV000215983	p.Arg777His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743062C>T	ClinVar
rs747568830	p.Arg777His	missense variant	-	NC_000017.11:g.61743062C>T	ExAC,gnomAD
rs768555161	p.Arg777Gly	missense variant	-	NC_000017.11:g.61743063G>C	ExAC,TOPMed,gnomAD
RCV000477985	p.Arg777Ter	frameshift	-	NC_000017.11:g.61743062del	ClinVar
RCV000687045	p.Val779Asp	missense variant	Familial cancer of breast	NC_000017.11:g.61743056A>T	ClinVar
COSM1153120	p.Val779Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61743057C>T	NCI-TCGA Cosmic
rs1467232177	p.Ile780Lys	missense variant	-	NC_000017.11:g.61743053A>T	gnomAD
RCV000575012	p.Ile780Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743053A>C	ClinVar
rs776131401	p.Ile780Leu	missense variant	-	NC_000017.11:g.61743054T>G	ExAC,gnomAD
rs1467232177	p.Ile780Arg	missense variant	-	NC_000017.11:g.61743053A>C	gnomAD
RCV000797013	p.Ile780Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61743053A>C	ClinVar
rs1555590382	p.Thr781Ile	missense variant	-	NC_000017.11:g.61743050G>A	-
RCV000662926	p.Thr781Ter	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61743052dup	ClinVar
RCV000565998	p.Thr781Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743050G>A	ClinVar
RCV000583295	p.Ile782Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743047A>G	ClinVar
RCV000483323	p.Ile782Val	missense variant	-	NC_000017.11:g.61743048T>C	ClinVar
RCV000816110	p.Ile782Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61743047A>G	ClinVar
rs778758437	p.Ile782Thr	missense variant	-	NC_000017.11:g.61743047A>G	ExAC,gnomAD
rs142806416	p.Ile782Val	missense variant	-	NC_000017.11:g.61743048T>C	ESP,ExAC,gnomAD
RCV000131421	p.Ile782Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743048T>C	ClinVar
RCV000759709	p.Ile782Val	missense variant	-	NC_000017.11:g.61743048T>C	ClinVar
RCV000409672	p.Ile782Val	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61743048T>C	ClinVar
RCV000234751	p.Ile782Val	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61743048T>C	ClinVar
RCV000410875	p.Ile782Val	missense variant	Neoplasm of ovary	NC_000017.11:g.61743048T>C	ClinVar
rs1555590356	p.Pro787Arg	missense variant	-	NC_000017.11:g.61743032G>C	-
RCV000563101	p.Pro787Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743032G>C	ClinVar
rs587783045	p.Asn788Lys	missense variant	-	NC_000017.11:g.61743028A>T	-
RCV000144587	p.Asn788Lys	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61743028A>T	ClinVar
rs1060501728	p.Val789Ala	missense variant	-	NC_000017.11:g.61743026A>G	-
RCV000689257	p.Val789Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61743027C>A	ClinVar
RCV000222877	p.Val789Leu	missense variant	-	NC_000017.11:g.61743027C>A	ClinVar
rs876661097	p.Val789Leu	missense variant	-	NC_000017.11:g.61743027C>A	-
RCV000456256	p.Val789Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61743026A>G	ClinVar
rs1289778155	p.Asp791Tyr	missense variant	-	NC_000017.11:g.61743021C>A	gnomAD
rs876659615	p.Asp791Glu	missense variant	-	NC_000017.11:g.61743019A>C	gnomAD
RCV000478836	p.Asp791Val	missense variant	-	NC_000017.11:g.61743020T>A	ClinVar
RCV000547000	p.Asp791Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61743020T>C	ClinVar
RCV000705289	p.Asp791Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61743019A>T	ClinVar
RCV000216036	p.Asp791Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743020T>A	ClinVar
RCV000222611	p.Asp791Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743019A>T	ClinVar
RCV000461754	p.Asp791Val	missense variant	Familial cancer of breast	NC_000017.11:g.61743020T>A	ClinVar
rs876659615	p.Asp791Glu	missense variant	-	NC_000017.11:g.61743019A>T	gnomAD
rs876658934	p.Asp791Gly	missense variant	-	NC_000017.11:g.61743020T>C	TOPMed
rs876658934	p.Asp791Val	missense variant	-	NC_000017.11:g.61743020T>A	TOPMed
RCV000785562	p.Gln793His	missense variant	Ovarian Neoplasms	NC_000017.11:g.61743013C>A	ClinVar
rs587782574	p.Gln793Ter	stop gained	-	NC_000017.11:g.61743015G>A	ExAC,TOPMed,gnomAD
RCV000663018	p.Gln793Ter	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61743015G>A	ClinVar
rs1261005517	p.Val794Phe	missense variant	-	NC_000017.11:g.61716063C>A	gnomAD
RCV000636113	p.Val794Phe	missense variant	Familial cancer of breast	NC_000017.11:g.61716063C>A	ClinVar
RCV000562557	p.Val794Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716063C>A	ClinVar
rs1486758464	p.Glu795Asp	missense variant	-	NC_000017.11:g.61716058T>G	gnomAD
COSM6147715	p.Glu795Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.61716060C>A	NCI-TCGA Cosmic
RCV000477092	p.Lys797Arg	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61716053T>C	ClinVar
rs730881622	p.Lys797Arg	missense variant	-	NC_000017.11:g.61716053T>C	TOPMed
RCV000663309	p.Lys797Arg	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61716053T>C	ClinVar
RCV000212323	p.Lys797Arg	missense variant	-	NC_000017.11:g.61716053T>C	ClinVar
RCV000781178	p.Lys797Arg	missense variant	-	NC_000017.11:g.61716053T>C	ClinVar
RCV000160319	p.Lys797Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716053T>C	ClinVar
rs137852986	p.Arg798Ter	stop gained	Fanconi anemia, complementation group j (fancj)	NC_000017.11:g.61716051G>A	ESP,ExAC,TOPMed,gnomAD
RCV000220012	p.Arg798Gln	missense variant	-	NC_000017.11:g.61716050C>T	ClinVar
rs137852986	p.Arg798Ter	stop gained	-	NC_000017.11:g.61716051G>A	NCI-TCGA,NCI-TCGA Cosmic
rs375082407	p.Arg798Gln	missense variant	-	NC_000017.11:g.61716050C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000662702	p.Arg798Gln	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61716050C>T	ClinVar
RCV000132435	p.Arg798Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716050C>T	ClinVar
RCV000475477	p.Arg798Gln	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61716050C>T	ClinVar
rs375082407	p.Arg798Gln	missense variant	-	NC_000017.11:g.61716050C>T	ESP,ExAC,TOPMed,gnomAD
RCV000409918	p.Arg798Ter	nonsense	Neoplasm of ovary	NC_000017.11:g.61716051G>A	ClinVar
RCV000695935	p.Tyr800His	missense variant	Familial cancer of breast	NC_000017.11:g.61716045A>G	ClinVar
RCV000131417	p.Tyr800Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716043G>C	ClinVar
rs574552037	p.Tyr800Ter	stop gained	-	NC_000017.11:g.61716043G>C	1000Genomes,ExAC,gnomAD
rs1305107535	p.Tyr800His	missense variant	-	NC_000017.11:g.61716045A>G	TOPMed,gnomAD
RCV000254652	p.Tyr800Ter	nonsense	-	NC_000017.11:g.61716043G>C	ClinVar
RCV000588697	p.Tyr800Ter	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61716043G>C	ClinVar
NCI-TCGA novel	p.Tyr800LysTerValSerPheAspIleTyrSer	stop gained	-	NC_000017.11:g.61716040_61716041insTTACTATATATGTCAAAACTCACCTAC	NCI-TCGA
RCV000565658	p.Tyr800His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716045A>G	ClinVar
RCV000205848	p.Tyr800Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61716043G>C	ClinVar
rs1325317591	p.Asn801Ser	missense variant	-	NC_000017.11:g.61716041T>C	TOPMed,gnomAD
RCV000565853	p.Asn801Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716040A>C	ClinVar
rs1555580947	p.Asn801Lys	missense variant	-	NC_000017.11:g.61716040A>C	-
rs1408016407	p.Asn801His	missense variant	-	NC_000017.11:g.61716042T>G	TOPMed
RCV000691047	p.Asn801Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61716041T>C	ClinVar
rs1555580944	p.Asp802His	missense variant	-	NC_000017.11:g.61716039C>G	-
RCV000548413	p.Asp802Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61716038T>C	ClinVar
RCV000781184	p.Asp802Gly	missense variant	-	NC_000017.11:g.61716038T>C	ClinVar
RCV000222483	p.Asp802Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716038T>C	ClinVar
RCV000567782	p.Asp802His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716039C>G	ClinVar
rs876660273	p.Asp802Gly	missense variant	-	NC_000017.11:g.61716038T>C	gnomAD
rs748981650	p.Asp802Glu	missense variant	-	NC_000017.11:g.61716037G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp802ValPheSerTerUnk	frameshift	-	NC_000017.11:g.61716038_61716039insTA	NCI-TCGA
rs1386234504	p.His803Leu	missense variant	-	NC_000017.11:g.61716035T>A	gnomAD
rs1386234504	p.His803Pro	missense variant	-	NC_000017.11:g.61716035T>G	gnomAD
rs777277034	p.His804Arg	missense variant	-	NC_000017.11:g.61716032T>C	ExAC,gnomAD
rs747622456	p.Lys806Glu	missense variant	-	NC_000017.11:g.61716027T>C	ExAC,gnomAD
rs781153382	p.Arg808Ile	missense variant	-	NC_000017.11:g.61716020C>A	ExAC,gnomAD
rs587780237	p.Arg808Gly	missense variant	-	NC_000017.11:g.61716021T>C	-
RCV000571281	p.Arg808Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716021T>C	ClinVar
NCI-TCGA novel	p.Arg808Lys	missense variant	-	NC_000017.11:g.61716020C>T	NCI-TCGA
RCV000116140	p.Arg808Gly	missense variant	-	NC_000017.11:g.61716021T>C	ClinVar
rs1555580886	p.Gly809Val	missense variant	-	NC_000017.11:g.61716017C>A	-
RCV000568103	p.Gly809Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716018C>T	ClinVar
rs1555580892	p.Gly809Ser	missense variant	-	NC_000017.11:g.61716018C>T	-
RCV000560808	p.Gly809Val	missense variant	Familial cancer of breast	NC_000017.11:g.61716017C>A	ClinVar
RCV000116141	p.Leu810Val	missense variant	-	NC_000017.11:g.61716015G>C	ClinVar
RCV000570772	p.Leu810Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716015G>C	ClinVar
RCV000231144	p.Leu810Val	missense variant	Familial cancer of breast	NC_000017.11:g.61716015G>C	ClinVar
rs587780238	p.Leu810Val	missense variant	-	NC_000017.11:g.61716015G>C	TOPMed
NCI-TCGA novel	p.Leu810Ile	missense variant	-	NC_000017.11:g.61716015G>T	NCI-TCGA
rs1205831534	p.Leu811Pro	missense variant	-	NC_000017.11:g.61716011A>G	TOPMed
RCV000535997	p.Pro812Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61716008G>A	ClinVar
RCV000587115	p.Pro812Leu	missense variant	-	NC_000017.11:g.61716008G>A	ClinVar
RCV000219849	p.Pro812Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716008G>C	ClinVar
RCV000579710	p.Pro812Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716008G>A	ClinVar
rs876659410	p.Pro812Leu	missense variant	-	NC_000017.11:g.61716008G>A	gnomAD
rs779915262	p.Pro812Ser	missense variant	-	NC_000017.11:g.61716009G>A	ExAC,gnomAD
rs876659410	p.Pro812Arg	missense variant	-	NC_000017.11:g.61716008G>C	gnomAD
rs201869624	p.Arg814Cys	missense variant	-	NC_000017.11:g.61716003G>A	NCI-TCGA
RCV000483176	p.Arg814Gly	missense variant	-	NC_000017.11:g.61716003G>C	ClinVar
RCV000567310	p.Arg814Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716003G>C	ClinVar
RCV000588835	p.Arg814Cys	missense variant	-	NC_000017.11:g.61716003G>A	ClinVar
RCV000801683	p.Arg814Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61716003G>C	ClinVar
RCV000234009	p.Arg814His	missense variant	Familial cancer of breast	NC_000017.11:g.61716002C>T	ClinVar
RCV000411419	p.Arg814His	missense variant	Neoplasm of ovary	NC_000017.11:g.61716002C>T	ClinVar
RCV000130375	p.Arg814His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716002C>T	ClinVar
rs45468199	p.Arg814His	missense variant	-	NC_000017.11:g.61716002C>T	ExAC,gnomAD
rs201869624	p.Arg814Cys	missense variant	-	NC_000017.11:g.61716003G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201869624	p.Arg814Gly	missense variant	-	NC_000017.11:g.61716003G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000410258	p.Arg814His	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61716002C>T	ClinVar
RCV000218503	p.Arg814His	missense variant	-	NC_000017.11:g.61716002C>T	ClinVar
rs1282067719	p.Gln815Leu	missense variant	-	NC_000017.11:g.61715999T>A	gnomAD
rs1282067719	p.Gln815Arg	missense variant	-	NC_000017.11:g.61715999T>C	gnomAD
rs786204250	p.Trp816Ter	stop gained	-	NC_000017.11:g.61715996C>T	-
RCV000775951	p.Trp816Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715995C>T	ClinVar
RCV000168450	p.Trp816Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61715996C>T	ClinVar
rs1338241931	p.Trp816Gly	missense variant	-	NC_000017.11:g.61715997A>C	gnomAD
rs1064795352	p.Trp816Ter	stop gained	-	NC_000017.11:g.61715995C>T	-
RCV000560924	p.Trp816Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715997A>C	ClinVar
RCV000485368	p.Trp816Ter	nonsense	-	NC_000017.11:g.61715995C>T	ClinVar
RCV000662910	p.Tyr817Cys	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61715993T>C	ClinVar
rs1555580828	p.Tyr817Cys	missense variant	-	NC_000017.11:g.61715993T>C	-
rs1555580819	p.Glu818Lys	missense variant	-	NC_000017.11:g.61715991C>T	-
RCV000548486	p.Glu818Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61715991C>T	ClinVar
NCI-TCGA novel	p.Glu818Asp	missense variant	-	NC_000017.11:g.61715989T>G	NCI-TCGA
RCV000223309	p.Ala821Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715981G>A	ClinVar
RCV000690651	p.Ala821Val	missense variant	Familial cancer of breast	NC_000017.11:g.61715981G>A	ClinVar
rs876658697	p.Ala821Val	missense variant	-	NC_000017.11:g.61715981G>A	-
RCV000196234	p.Tyr822His	missense variant	Familial cancer of breast	NC_000017.11:g.61715979A>G	ClinVar
RCV000574768	p.Tyr822His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715979A>G	ClinVar
rs587781572	p.Tyr822Cys	missense variant	-	NC_000017.11:g.61715978T>C	-
rs760887592	p.Tyr822His	missense variant	-	NC_000017.11:g.61715979A>G	ExAC,TOPMed,gnomAD
RCV000636138	p.Tyr822Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61715979dup	ClinVar
RCV000129606	p.Tyr822Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715978T>C	ClinVar
rs587780239	p.Arg823Ser	missense variant	-	NC_000017.11:g.61715974C>A	ExAC,TOPMed,gnomAD
RCV000777286	p.Arg823Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715976T>C	ClinVar
RCV000662607	p.Arg823Ser	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61715974C>A	ClinVar
RCV000123356	p.Arg823Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61715974C>A	ClinVar
RCV000590497	p.Arg823Ser	missense variant	-	NC_000017.11:g.61715974C>A	ClinVar
RCV000116142	p.Arg823Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715974C>A	ClinVar
RCV000582319	p.Asn826Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715966T>C	ClinVar
rs760127237	p.Asn826Ser	missense variant	-	NC_000017.11:g.61715966T>C	ExAC,TOPMed,gnomAD
RCV000541763	p.Asn826Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61715966T>C	ClinVar
RCV000587241	p.Asn826Ser	missense variant	-	NC_000017.11:g.61715966T>C	ClinVar
rs760127237	p.Asn826Ser	missense variant	-	NC_000017.11:g.61715966T>C	NCI-TCGA
RCV000580273	p.Gln827Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715964G>A	ClinVar
RCV000167402	p.Gln827Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715964G>T	ClinVar
RCV000229009	p.Gln827Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61715964G>A	ClinVar
rs786203898	p.Gln827Ter	stop gained	-	NC_000017.11:g.61715964G>A	-
rs786203898	p.Gln827Lys	missense variant	-	NC_000017.11:g.61715964G>T	-
RCV000572594	p.Gly830Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715955C>A	ClinVar
RCV000222074	p.Gly830Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715955C>G	ClinVar
rs876659062	p.Gly830Cys	missense variant	-	NC_000017.11:g.61715955C>A	-
rs876659062	p.Gly830Arg	missense variant	-	NC_000017.11:g.61715955C>G	-
RCV000549959	p.Arg831Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61715951C>T	ClinVar
rs771382903	p.Arg831Lys	missense variant	-	NC_000017.11:g.61715951C>T	ExAC,gnomAD
RCV000538973	p.Arg831Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61715952del	ClinVar
RCV000525948	p.Cys832Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61693511A>C	ClinVar
rs768222842	p.Cys832Arg	missense variant	-	NC_000017.11:g.61693511A>G	ExAC,gnomAD
RCV000579758	p.Cys832Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693511A>C	ClinVar
rs4988355	p.Cys832Tyr	missense variant	-	NC_000017.11:g.61693510C>T	gnomAD
rs768222842	p.Cys832Gly	missense variant	-	NC_000017.11:g.61693511A>C	ExAC,gnomAD
RCV000216630	p.Ile833Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693507A>G	ClinVar
RCV000463029	p.Ile833Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61693507A>G	ClinVar
RCV000709539	p.Ile833Val	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61693508T>C	ClinVar
rs199831248	p.Ile833Val	missense variant	-	NC_000017.11:g.61693508T>C	-
rs876660936	p.Ile833Thr	missense variant	-	NC_000017.11:g.61693507A>G	-
RCV000215748	p.Ile833Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693508T>C	ClinVar
RCV000538672	p.His835Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61693500G>C	ClinVar
rs775547651	p.His835Gln	missense variant	-	NC_000017.11:g.61693500G>C	ExAC,TOPMed,gnomAD
rs746492294	p.His835Asp	missense variant	-	NC_000017.11:g.61693502G>C	ExAC,gnomAD
rs1060501736	p.Arg836Ile	missense variant	-	NC_000017.11:g.61693498C>A	-
RCV000463753	p.Arg836Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61693498C>A	ClinVar
rs1555574810	p.Asn837Ser	missense variant	-	NC_000017.11:g.61693495T>C	-
RCV000569662	p.Asn837Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693495T>C	ClinVar
rs771929845	p.Asn837His	missense variant	-	NC_000017.11:g.61693496T>G	ExAC
RCV000685372	p.Asn837Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61693495T>C	ClinVar
RCV000689226	p.Asp838Val	missense variant	Familial cancer of breast	NC_000017.11:g.61693492T>A	ClinVar
RCV000773235	p.Trp839Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693490A>T	ClinVar
RCV000636142	p.Trp839Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61693490A>T	ClinVar
rs1555574803	p.Trp839Ter	stop gained	-	NC_000017.11:g.61693488C>T	-
rs1555574807	p.Trp839Arg	missense variant	-	NC_000017.11:g.61693490A>T	-
RCV000636075	p.Trp839Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61693488C>T	ClinVar
RCV000565568	p.Gly840Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693488_61693489del	ClinVar
RCV000573067	p.Ala841Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693484C>T	ClinVar
RCV000530868	p.Ala841Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61693484C>T	ClinVar
rs1555574790	p.Ala841Thr	missense variant	-	NC_000017.11:g.61693484C>T	-
rs786201802	p.Leu842Val	missense variant	-	NC_000017.11:g.61693481G>C	NCI-TCGA Cosmic
rs786201802	p.Leu842Val	missense variant	-	NC_000017.11:g.61693481G>C	-
rs786201802	p.Leu842Phe	missense variant	-	NC_000017.11:g.61693481G>A	-
RCV000221450	p.Leu842Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693481G>C	ClinVar
RCV000693924	p.Leu842Val	missense variant	Familial cancer of breast	NC_000017.11:g.61693481G>C	ClinVar
RCV000164278	p.Leu842Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693481G>A	ClinVar
rs1060501751	p.Leu842Pro	missense variant	-	NC_000017.11:g.61693480A>G	-
RCV000456694	p.Leu842Pro	missense variant	Familial cancer of breast	NC_000017.11:g.61693480A>G	ClinVar
rs996693020	p.Ile843Thr	missense variant	-	NC_000017.11:g.61693477A>G	-
rs1281537935	p.Ile843Met	missense variant	-	NC_000017.11:g.61693476A>C	gnomAD
RCV000820958	p.Ile843Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61693477A>G	ClinVar
RCV000773644	p.Ile843Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693477A>G	ClinVar
rs1555574776	p.Leu844Pro	missense variant	-	NC_000017.11:g.61693474A>G	-
RCV000574404	p.Leu844Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693474A>G	ClinVar
RCV000571541	p.Val845Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693471A>G	ClinVar
rs1555574775	p.Val845Ala	missense variant	-	NC_000017.11:g.61693471A>G	-
RCV000701138	p.Asp846His	missense variant	Familial cancer of breast	NC_000017.11:g.61693469C>G	ClinVar
RCV000216557	p.Asp846His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693469C>G	ClinVar
rs876659409	p.Asp846His	missense variant	-	NC_000017.11:g.61693469C>G	-
rs876659013	p.Asp847Asn	missense variant	-	NC_000017.11:g.61693466C>T	-
RCV000538746	p.Asp847Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61693466C>T	ClinVar
RCV000215166	p.Asp847Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693466C>T	ClinVar
RCV000130056	p.Arg848His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693462C>T	ClinVar
RCV000699539	p.Arg848His	missense variant	Familial cancer of breast	NC_000017.11:g.61693462C>T	ClinVar
RCV000663220	p.Arg848His	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61693462C>T	ClinVar
RCV000696907	p.Arg848Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61693463G>C	ClinVar
RCV000456342	p.Arg848Cys	missense variant	Familial cancer of breast	NC_000017.11:g.61693463G>A	ClinVar
rs45572934	p.Arg848Gly	missense variant	-	NC_000017.11:g.61693463G>C	TOPMed
rs374334794	p.Arg848His	missense variant	-	NC_000017.11:g.61693462C>T	ESP,TOPMed,gnomAD
rs45572934	p.Arg848Cys	missense variant	-	NC_000017.11:g.61693463G>A	TOPMed
rs45572934	p.Arg848Ser	missense variant	-	NC_000017.11:g.61693463G>T	TOPMed
RCV000212326	p.Arg848Ser	missense variant	-	NC_000017.11:g.61693463G>T	ClinVar
RCV000216369	p.Arg848Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693463G>C	ClinVar
RCV000570309	p.Arg848Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693463G>A	ClinVar
RCV000131711	p.Arg848Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693463G>T	ClinVar
RCV000165064	p.Phe849Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693460A>G	ClinVar
rs786202317	p.Phe849Leu	missense variant	-	NC_000017.11:g.61693460A>G	-
RCV000130050	p.Asn851Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693452A>C	ClinVar
rs587781793	p.Asn851Lys	missense variant	-	NC_000017.11:g.61693452A>C	-
RCV000556037	p.Asn852Asp	missense variant	Familial cancer of breast	NC_000017.11:g.61693451T>C	ClinVar
RCV000218071	p.Asn852Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693451T>C	ClinVar
rs745782331	p.Asn852Asp	missense variant	-	NC_000017.11:g.61693451T>C	ExAC,gnomAD
rs1060501775	p.Pro853Arg	missense variant	-	NC_000017.11:g.61693447G>C	gnomAD
RCV000636106	p.Pro853Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61693447G>C	ClinVar
rs1060501775	p.Pro853Leu	missense variant	-	NC_000017.11:g.61693447G>A	gnomAD
RCV000473074	p.Pro853Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61693447G>A	ClinVar
RCV000167924	p.Arg855His	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61693441C>T	ClinVar
RCV000464228	p.Arg855Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61693441C>A	ClinVar
RCV000116144	p.Arg855His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693441C>T	ClinVar
RCV000589567	p.Arg855His	missense variant	-	NC_000017.11:g.61693441C>T	ClinVar
RCV000709538	p.Arg855Cys	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61693442G>A	ClinVar
RCV000780055	p.Arg855Cys	missense variant	-	NC_000017.11:g.61693442G>A	ClinVar
RCV000580601	p.Arg855Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693441C>A	ClinVar
RCV000144588	p.Arg855His	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61693441C>T	ClinVar
rs200894063	p.Arg855His	missense variant	-	NC_000017.11:g.61693441C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200894063	p.Arg855Leu	missense variant	-	NC_000017.11:g.61693441C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs146031731	p.Arg855Cys	missense variant	-	NC_000017.11:g.61693442G>A	ESP,ExAC,TOPMed,gnomAD
RCV000662940	p.Arg855His	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61693441C>T	ClinVar
RCV000662411	p.Arg855Cys	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61693442G>A	ClinVar
RCV000199690	p.Arg855Cys	missense variant	Familial cancer of breast	NC_000017.11:g.61693442G>A	ClinVar
RCV000478148	p.Arg855Cys	missense variant	-	NC_000017.11:g.61693442G>A	ClinVar
RCV000215624	p.Arg855Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693442G>A	ClinVar
RCV000481563	p.Tyr856Cys	missense variant	-	NC_000017.11:g.61693438T>C	ClinVar
RCV000663234	p.Tyr856Cys	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61693438T>C	ClinVar
RCV000636158	p.Tyr856Cys	missense variant	Familial cancer of breast	NC_000017.11:g.61693438T>C	ClinVar
RCV000569256	p.Tyr856Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693438T>C	ClinVar
rs781556845	p.Tyr856Cys	missense variant	-	NC_000017.11:g.61693438T>C	ExAC,TOPMed,gnomAD
RCV000567986	p.Ile857Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693435A>G	ClinVar
rs28904918	p.Ile857Val	missense variant	-	NC_000017.11:g.61693436T>C	ExAC,gnomAD
rs766432760	p.Ile857Thr	missense variant	-	NC_000017.11:g.61693435A>G	ExAC,gnomAD
rs1427254734	p.Ile857Met	missense variant	-	NC_000017.11:g.61693434T>C	gnomAD
rs1064793893	p.Ser858Phe	missense variant	-	NC_000017.11:g.61693432G>A	-
RCV000478046	p.Ser858Phe	missense variant	-	NC_000017.11:g.61693432G>A	ClinVar
RCV000636111	p.Leu860Phe	missense variant	Familial cancer of breast	NC_000017.11:g.61686163G>A	ClinVar
RCV000196126	p.Leu860Pro	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61686162A>G	ClinVar
RCV000116146	p.Leu860Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686162A>G	ClinVar
rs1555573507	p.Leu860Phe	missense variant	-	NC_000017.11:g.61686163G>A	-
rs587780242	p.Leu860Pro	missense variant	-	NC_000017.11:g.61686162A>G	-
RCV000662554	p.Leu860Pro	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61686162A>G	ClinVar
RCV000212328	p.Leu860Pro	missense variant	-	NC_000017.11:g.61686162A>G	ClinVar
RCV000533602	p.Ser861Cys	missense variant	Familial cancer of breast	NC_000017.11:g.61686159G>C	ClinVar
RCV000167301	p.Ser861Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686159G>C	ClinVar
rs774415723	p.Ser861Cys	missense variant	-	NC_000017.11:g.61686159G>C	ExAC,gnomAD
RCV000697306	p.Ser861Pro	missense variant	Familial cancer of breast	NC_000017.11:g.61686160A>G	ClinVar
NCI-TCGA novel	p.Ser861Phe	missense variant	-	NC_000017.11:g.61686159G>A	NCI-TCGA
RCV000570125	p.Lys862Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686155T>A	ClinVar
rs745318756	p.Lys862Asn	missense variant	-	NC_000017.11:g.61686155T>A	TOPMed
RCV000219467	p.Trp863Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686154A>G	ClinVar
RCV000804466	p.Trp863Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61686154A>G	ClinVar
rs1555573497	p.Trp863Ter	stop gained	-	NC_000017.11:g.61686152C>T	-
rs876660452	p.Trp863Arg	missense variant	-	NC_000017.11:g.61686154A>G	-
RCV000636183	p.Trp863Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61686152C>T	ClinVar
rs149529390	p.Val864Ile	missense variant	-	NC_000017.11:g.61686151C>T	ESP,ExAC,TOPMed,gnomAD
rs1294102948	p.Val864Ala	missense variant	-	NC_000017.11:g.61686150A>G	gnomAD
RCV000575702	p.Val864Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686151C>T	ClinVar
rs578022079	p.Arg865Trp	missense variant	-	NC_000017.11:g.61686148G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs578022079	p.Arg865Trp	missense variant	-	NC_000017.11:g.61686148G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000507155	p.Arg865Gln	missense variant	-	NC_000017.11:g.61686147C>T	ClinVar
RCV000198650	p.Arg865Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61686147C>T	ClinVar
RCV000165535	p.Arg865Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686147C>T	ClinVar
RCV000228828	p.Arg865Trp	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61686148G>A	ClinVar
RCV000662563	p.Arg865Trp	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61686148G>A	ClinVar
rs781609846	p.Arg865Gln	missense variant	-	NC_000017.11:g.61686147C>T	ExAC,TOPMed,gnomAD
RCV000709537	p.Arg865Trp	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61686148G>A	ClinVar
RCV000586310	p.Arg865Trp	missense variant	-	NC_000017.11:g.61686148G>A	ClinVar
RCV000217245	p.Arg865Trp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686148G>A	ClinVar
RCV000130366	p.Gln866Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686147del	ClinVar
rs747213803	p.Gln867Arg	missense variant	-	NC_000017.11:g.61686141T>C	ExAC
rs182028200	p.Gln867Lys	missense variant	-	NC_000017.11:g.61686142G>T	1000Genomes
rs1060501766	p.Gln869Glu	missense variant	-	NC_000017.11:g.61686136G>C	gnomAD
rs1060501733	p.Gln869Arg	missense variant	-	NC_000017.11:g.61686135T>C	TOPMed,gnomAD
RCV000470789	p.Gln869Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61686136G>C	ClinVar
RCV000775728	p.Gln869Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686135T>C	ClinVar
RCV000461585	p.Gln869Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61686135T>C	ClinVar
RCV000584460	p.Gln869Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686136G>C	ClinVar
rs864622201	p.His870Pro	missense variant	-	NC_000017.11:g.61686132T>G	-
RCV000206566	p.His870Pro	missense variant	Familial cancer of breast	NC_000017.11:g.61686132T>G	ClinVar
rs199721657	p.His871Gln	missense variant	-	NC_000017.11:g.61686128A>T	1000Genomes,ExAC,gnomAD
RCV000166525	p.His871Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686130G>A	ClinVar
rs786203288	p.His871Tyr	missense variant	-	NC_000017.11:g.61686130G>A	-
rs1171326662	p.His871Arg	missense variant	-	NC_000017.11:g.61686129T>C	gnomAD
rs587781964	p.Ser872Leu	missense variant	-	NC_000017.11:g.61686126G>A	-
RCV000130343	p.Ser872Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686126G>A	ClinVar
RCV000216067	p.Thr873Ser	missense variant	-	NC_000017.11:g.61686124T>A	ClinVar
rs758444508	p.Thr873Ala	missense variant	-	NC_000017.11:g.61686124T>C	ExAC,gnomAD
RCV000571092	p.Thr873Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686124T>C	ClinVar
RCV000557628	p.Thr873Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61686124T>C	ClinVar
rs758444508	p.Thr873Ser	missense variant	-	NC_000017.11:g.61686124T>A	ExAC,gnomAD
rs876659099	p.Glu875Gln	missense variant	-	NC_000017.11:g.61686118C>G	gnomAD
RCV000223507	p.Glu875Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686118C>G	ClinVar
RCV000231669	p.Glu875Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61686118C>G	ClinVar
rs750961319	p.Ser876Asn	missense variant	-	NC_000017.11:g.61686114C>T	NCI-TCGA
rs750961319	p.Ser876Asn	missense variant	-	NC_000017.11:g.61686114C>T	ExAC,gnomAD
RCV000565343	p.Ser876Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686114C>T	ClinVar
rs1032574757	p.Ser876Arg	missense variant	-	NC_000017.11:g.61686113A>C	gnomAD
RCV000636171	p.Ser876Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61686115T>C	ClinVar
rs1555573469	p.Ser876Gly	missense variant	-	NC_000017.11:g.61686115T>C	-
RCV000482339	p.Ser876Arg	missense variant	-	NC_000017.11:g.61686113A>C	ClinVar
RCV000705219	p.Ser876Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61686113A>C	ClinVar
rs1555573465	p.Ala877Val	missense variant	-	NC_000017.11:g.61686111G>A	-
RCV000533672	p.Ala877Val	missense variant	Familial cancer of breast	NC_000017.11:g.61686111G>A	ClinVar
RCV000690686	p.Ala877Pro	missense variant	Familial cancer of breast	NC_000017.11:g.61686112C>G	ClinVar
NCI-TCGA novel	p.Ala877Thr	missense variant	-	NC_000017.11:g.61686112C>T	NCI-TCGA
rs1391013628	p.Glu879Lys	missense variant	-	NC_000017.11:g.61686106C>T	TOPMed
rs1202665874	p.Glu879Ala	missense variant	-	NC_000017.11:g.61686105T>G	gnomAD
RCV000691813	p.Glu879Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61686106C>T	ClinVar
rs1217852974	p.Ser880Phe	missense variant	-	NC_000017.11:g.61686102G>A	gnomAD
RCV000705615	p.Leu881Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61686102del	ClinVar
RCV000761995	p.Glu883Ala	missense variant	-	NC_000017.11:g.61686093T>G	ClinVar
rs1453990721	p.Glu883Ala	missense variant	-	NC_000017.11:g.61686093T>G	TOPMed
RCV000116147	p.Phe884Ile	missense variant	-	NC_000017.11:g.61686091A>T	ClinVar
rs587780243	p.Phe884Ile	missense variant	-	NC_000017.11:g.61686091A>T	-
RCV000562212	p.Phe884Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686089A>C	ClinVar
rs1555573451	p.Phe884Leu	missense variant	-	NC_000017.11:g.61686089A>C	-
RCV000561017	p.His888Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686079G>A	ClinVar
RCV000411371	p.His888Tyr	missense variant	Neoplasm of ovary	NC_000017.11:g.61686079G>A	ClinVar
RCV000679782	p.His888Tyr	missense variant	-	NC_000017.11:g.61686079G>A	ClinVar
RCV000410305	p.His888Tyr	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61686079G>A	ClinVar
RCV000198208	p.His888Tyr	missense variant	Familial cancer of breast	NC_000017.11:g.61686079G>A	ClinVar
rs757668121	p.His888Tyr	missense variant	-	NC_000017.11:g.61686079G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys890Gln	missense variant	-	NC_000017.11:g.61686073T>G	NCI-TCGA
RCV000571380	p.Val891Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686070C>G	ClinVar
rs754224663	p.Val891Leu	missense variant	-	NC_000017.11:g.61686070C>G	ExAC,gnomAD
rs754224663	p.Val891Ile	missense variant	-	NC_000017.11:g.61686070C>T	ExAC,gnomAD
RCV000481257	p.Val894Ter	nonsense	-	NC_000017.11:g.61686056_61686059del	ClinVar
RCV000563726	p.Val894Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686056_61686059del	ClinVar
RCV000232131	p.Val894Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61686056_61686059del	ClinVar
NCI-TCGA novel	p.Val894Glu	missense variant	-	NC_000017.11:g.61686060A>T	NCI-TCGA
RCV000503950	p.Ser895Tyr	missense variant	-	NC_000017.11:g.61686057G>T	ClinVar
rs1555573437	p.Ser895Tyr	missense variant	-	NC_000017.11:g.61686057G>T	-
COSM3520424	p.Ser895Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61686057G>A	NCI-TCGA Cosmic
rs764406913	p.Ile896Val	missense variant	-	NC_000017.11:g.61686055T>C	ExAC,TOPMed,gnomAD
RCV000547656	p.Ile896Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61686055T>G	ClinVar
RCV000222623	p.Ile896Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686055T>C	ClinVar
rs764406913	p.Ile896Leu	missense variant	-	NC_000017.11:g.61686055T>G	ExAC,TOPMed,gnomAD
rs587781644	p.Lys897Glu	missense variant	-	NC_000017.11:g.61686052T>C	ExAC,TOPMed,gnomAD
RCV000129774	p.Lys897Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686052T>C	ClinVar
RCV000478765	p.Lys897Glu	missense variant	-	NC_000017.11:g.61686052T>C	ClinVar
rs752340544	p.Asp898Val	missense variant	-	NC_000017.11:g.61686048T>A	ExAC,gnomAD
COSM4068420	p.Asp898Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61686049C>T	NCI-TCGA Cosmic
rs1359809807	p.Thr900Ser	missense variant	-	NC_000017.11:g.61686042G>C	gnomAD
RCV000656814	p.Ile902Met	missense variant	-	NC_000017.11:g.61686035T>C	ClinVar
RCV000229209	p.Ile902Met	missense variant	Familial cancer of breast	NC_000017.11:g.61686035T>C	ClinVar
RCV000412341	p.Ile902Met	missense variant	Neoplasm of ovary	NC_000017.11:g.61686035T>C	ClinVar
rs587780244	p.Ile902Met	missense variant	-	NC_000017.11:g.61686035T>C	ExAC,TOPMed,gnomAD
rs1060501781	p.Ile902Thr	missense variant	-	NC_000017.11:g.61686036A>G	TOPMed,gnomAD
RCV000589053	p.Ile902Thr	missense variant	-	NC_000017.11:g.61686036A>G	ClinVar
RCV000465302	p.Ile902Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61686036A>G	ClinVar
RCV000773139	p.Ile902Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686036A>G	ClinVar
RCV000212329	p.Ile902Met	missense variant	-	NC_000017.11:g.61686035T>C	ClinVar
RCV000410789	p.Ile902Met	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61686035T>C	ClinVar
RCV000636161	p.Asp904Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61686031C>T	ClinVar
rs1555573413	p.Asp904Asn	missense variant	-	NC_000017.11:g.61686031C>T	-
RCV000540935	p.Asn905Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61686027T>C	ClinVar
rs1555573412	p.Asn905Ser	missense variant	-	NC_000017.11:g.61686027T>C	-
RCV000773669	p.Asn905Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686026A>C	ClinVar
rs876659677	p.Glu906Gly	missense variant	-	NC_000017.11:g.61686024T>C	-
RCV000220706	p.Glu906Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686024T>C	ClinVar
rs759080195	p.Glu906Lys	missense variant	-	NC_000017.11:g.61686025C>T	ExAC,gnomAD
RCV000699974	p.Thr908Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61686018G>A	ClinVar
RCV000586440	p.Thr908Ile	missense variant	-	NC_000017.11:g.61686018G>A	ClinVar
RCV000164448	p.Thr908Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686018G>A	ClinVar
rs786201919	p.Thr908Ile	missense variant	-	NC_000017.11:g.61686018G>A	TOPMed,gnomAD
RCV000392670	p.Leu909Arg	missense variant	-	NC_000017.11:g.61686015A>C	ClinVar
RCV000775413	p.Leu909Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686015A>G	ClinVar
RCV000462258	p.Leu909Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61686015A>C	ClinVar
RCV000548026	p.Leu909Pro	missense variant	Familial cancer of breast	NC_000017.11:g.61686015A>G	ClinVar
RCV000130159	p.Leu909Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686016G>C	ClinVar
rs770966270	p.Leu909Pro	missense variant	-	NC_000017.11:g.61686015A>G	ExAC,gnomAD
rs587781853	p.Leu909Val	missense variant	-	NC_000017.11:g.61686016G>C	-
rs770966270	p.Leu909Arg	missense variant	-	NC_000017.11:g.61686015A>C	ExAC,gnomAD
RCV000563513	p.Glu910Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686013C>G	ClinVar
RCV000484483	p.Glu910Gln	missense variant	-	NC_000017.11:g.61686013C>G	ClinVar
rs1007808618	p.Glu910Gln	missense variant	-	NC_000017.11:g.61686013C>G	TOPMed,gnomAD
rs1007808618	p.Glu910Gln	missense variant	-	NC_000017.11:g.61686013C>G	NCI-TCGA Cosmic
RCV000817172	p.Glu910Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61686013C>G	ClinVar
rs1007808618	p.Glu910Lys	missense variant	-	NC_000017.11:g.61686013C>T	TOPMed,gnomAD
rs1555573392	p.Val911Leu	missense variant	-	NC_000017.11:g.61686010C>G	-
RCV000583378	p.Val911Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686010C>G	ClinVar
rs571949350	p.Thr912Asn	missense variant	-	NC_000017.11:g.61686006G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000657456	p.Thr912Ter	frameshift	-	NC_000017.11:g.61686009dup	ClinVar
RCV000469617	p.Thr912Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61686009dup	ClinVar
RCV000570668	p.Thr912Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686009dup	ClinVar
rs571949350	p.Thr912Ile	missense variant	-	NC_000017.11:g.61686006G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1028504408	p.Ser913Phe	missense variant	-	NC_000017.11:g.61686003G>A	TOPMed
RCV000565233	p.Ser913Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686004A>C	ClinVar
rs1555573382	p.Ser913Ala	missense variant	-	NC_000017.11:g.61686004A>C	NCI-TCGA
RCV000571316	p.Ser913Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686004del	ClinVar
rs1555573382	p.Ser913Ala	missense variant	-	NC_000017.11:g.61686004A>C	-
rs1028504408	p.Ser913Phe	missense variant	-	NC_000017.11:g.61686003G>A	NCI-TCGA Cosmic
RCV000575449	p.Leu914Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686000A>G	ClinVar
rs886053215	p.Leu914Ser	missense variant	-	NC_000017.11:g.61686000A>G	-
RCV000394613	p.Leu914Ser	missense variant	Fanconi anemia (FA)	NC_000017.11:g.61686000A>G	ClinVar
RCV000815188	p.Leu914Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61686000A>G	ClinVar
RCV000343331	p.Leu914Ser	missense variant	Neoplasm of the breast	NC_000017.11:g.61686000A>G	ClinVar
rs1555573369	p.Ser917Asn	missense variant	-	NC_000017.11:g.61685991C>T	-
RCV000584587	p.Ser917Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685991C>T	ClinVar
rs1060501759	p.Thr918Ala	missense variant	-	NC_000017.11:g.61685989T>C	-
rs587781298	p.Thr918Asn	missense variant	-	NC_000017.11:g.61685988G>T	-
RCV000129006	p.Thr918Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685988G>A	ClinVar
RCV000160323	p.Thr918Asn	missense variant	-	NC_000017.11:g.61685988G>T	ClinVar
rs587781298	p.Thr918Ile	missense variant	-	NC_000017.11:g.61685988G>A	-
RCV000477291	p.Thr918Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61685989T>C	ClinVar
rs4986764	p.Ser919Pro	missense variant	-	NC_000017.11:g.61685986A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000286073	p.Ser919Pro	missense variant	Fanconi anemia (FA)	NC_000017.11:g.61685986A>G	ClinVar
RCV000377937	p.Ser919Pro	missense variant	Neoplasm of the breast	NC_000017.11:g.61685986A>G	ClinVar
rs587782410	p.Leu922Ter	stop gained	-	NC_000017.11:g.61685976A>C	ExAC,TOPMed,gnomAD
RCV000588116	p.Leu922Ter	nonsense	Hereditary breast and ovarian cancer syndrome (HBOC)	NC_000017.11:g.61685976A>C	ClinVar
rs1555573342	p.Glu924Lys	missense variant	-	NC_000017.11:g.61685971C>T	-
RCV000160324	p.Glu924Asp	missense variant	-	NC_000017.11:g.61685969T>G	ClinVar
RCV000636143	p.Glu924Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61685971C>T	ClinVar
rs730881625	p.Glu924Asp	missense variant	-	NC_000017.11:g.61685969T>G	-
rs1003917080	p.Ala926Thr	missense variant	-	NC_000017.11:g.61685965C>T	TOPMed
rs1483709056	p.Ala926Val	missense variant	-	NC_000017.11:g.61685964G>A	gnomAD
RCV000583724	p.Ala926Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685964G>A	ClinVar
RCV000579584	p.Leu929Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685955A>G	ClinVar
RCV000636079	p.Leu929Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61685955_61685958del	ClinVar
rs772087074	p.Leu929Pro	missense variant	-	NC_000017.11:g.61685955A>G	ExAC,gnomAD
rs772087074	p.Leu929Arg	missense variant	-	NC_000017.11:g.61685955A>C	ExAC,gnomAD
rs1384396768	p.Ser930Pro	missense variant	-	NC_000017.11:g.61685953A>G	TOPMed
RCV000772038	p.Ser930Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685953A>G	ClinVar
rs745940032	p.Pro931Thr	missense variant	-	NC_000017.11:g.61685950G>T	ExAC,gnomAD
RCV000636071	p.Pro931Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61685950del	ClinVar
rs932408573	p.Pro931Gln	missense variant	-	NC_000017.11:g.61685949G>T	TOPMed
RCV000574168	p.Pro931Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685949G>T	ClinVar
RCV000465431	p.Pro931Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61685955_61685958dup	ClinVar
rs863224801	p.Phe934Val	missense variant	-	NC_000017.11:g.61685941A>C	NCI-TCGA Cosmic
rs1259968679	p.Phe934Leu	missense variant	-	NC_000017.11:g.61685939A>C	gnomAD
RCV000221756	p.Phe934Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685940A>G	ClinVar
RCV000408962	p.Phe934Val	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685941A>C	ClinVar
RCV000410527	p.Phe934Val	missense variant	Neoplasm of ovary	NC_000017.11:g.61685941A>C	ClinVar
RCV000692123	p.Phe934Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61685939A>C	ClinVar
RCV000200748	p.Phe934Val	missense variant	Familial cancer of breast	NC_000017.11:g.61685941A>C	ClinVar
RCV000567218	p.Phe934Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685941A>C	ClinVar
rs778916092	p.Phe934Ser	missense variant	-	NC_000017.11:g.61685940A>G	ExAC,TOPMed,gnomAD
rs863224801	p.Phe934Val	missense variant	-	NC_000017.11:g.61685941A>C	TOPMed
RCV000679783	p.Phe934Leu	missense variant	-	NC_000017.11:g.61685939A>C	ClinVar
RCV000507680	p.Phe934Leu	missense variant	-	NC_000017.11:g.61685939A>C	ClinVar
COSM1385000	p.Phe934Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61685940A>C	NCI-TCGA Cosmic
rs1219152456	p.Val935Met	missense variant	-	NC_000017.11:g.61685938C>T	gnomAD
RCV000213879	p.Val935Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685937A>C	ClinVar
rs4988356	p.Val935Gly	missense variant	-	NC_000017.11:g.61685937A>C	ExAC,TOPMed,gnomAD
RCV000780065	p.Val935Met	missense variant	-	NC_000017.11:g.61685938C>T	ClinVar
RCV000230139	p.Glu936Val	missense variant	Familial cancer of breast	NC_000017.11:g.61685934T>A	ClinVar
rs754280048	p.Glu936Lys	missense variant	-	NC_000017.11:g.61685935C>T	ExAC,gnomAD
rs878855149	p.Glu936Val	missense variant	-	NC_000017.11:g.61685934T>A	-
RCV000574686	p.Glu938Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685929C>T	ClinVar
rs199643061	p.Glu938Lys	missense variant	-	NC_000017.11:g.61685929C>T	-
RCV000775412	p.Ala939Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685925G>C	ClinVar
RCV000553783	p.Ala939Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61685925G>C	ClinVar
RCV000522943	p.Ala939Gly	missense variant	-	NC_000017.11:g.61685925G>C	ClinVar
rs756490117	p.Ala939Gly	missense variant	-	NC_000017.11:g.61685925G>C	ExAC,gnomAD
RCV000221289	p.Cys942Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685916C>T	ClinVar
RCV000706890	p.Cys942Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61685917A>G	ClinVar
rs370330739	p.Cys942Tyr	missense variant	-	NC_000017.11:g.61685916C>T	ESP,ExAC,gnomAD
rs370330739	p.Cys942Tyr	missense variant	-	NC_000017.11:g.61685916C>T	NCI-TCGA
rs786204143	p.Val943Ala	missense variant	-	NC_000017.11:g.61685913A>G	-
rs1401830781	p.Val943Ile	missense variant	-	NC_000017.11:g.61685914C>T	gnomAD
rs1401830781	p.Val943Leu	missense variant	-	NC_000017.11:g.61685914C>G	gnomAD
RCV000697488	p.Val943Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61685914C>G	ClinVar
RCV000168126	p.Val943Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61685913A>G	ClinVar
rs140233356	p.Gln944Glu	missense variant	-	NC_000017.11:g.61685911G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs148232408	p.Gln944Arg	missense variant	-	NC_000017.11:g.61685910T>C	ESP,ExAC,gnomAD
rs148232408	p.Gln944Pro	missense variant	-	NC_000017.11:g.61685910T>G	ESP,ExAC,gnomAD
RCV000576521	p.Gln944Ter	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685911G>A	ClinVar
rs140233356	p.Gln944Ter	stop gained	-	NC_000017.11:g.61685911G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000409338	p.Gln944Glu	missense variant	Neoplasm of ovary	NC_000017.11:g.61685911G>C	ClinVar
RCV000217954	p.Gln944Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685910T>C	ClinVar
RCV000411198	p.Gln944Glu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685911G>C	ClinVar
RCV000585934	p.Gln944Glu	missense variant	-	NC_000017.11:g.61685911G>C	ClinVar
RCV000116149	p.Gln944Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685911G>C	ClinVar
RCV000199089	p.Gln944Glu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685911G>C	ClinVar
RCV000694637	p.Gln944Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61685910T>C	ClinVar
RCV000215452	p.Glu945Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685909del	ClinVar
RCV000195543	p.Glu945Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61685908C>G	ClinVar
RCV000775411	p.Glu945Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685908C>G	ClinVar
rs863224802	p.Glu945Gln	missense variant	-	NC_000017.11:g.61685908C>G	TOPMed
rs876659756	p.Gln947Arg	missense variant	-	NC_000017.11:g.61685901T>C	-
RCV000529936	p.Gln947Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61685901T>C	ClinVar
RCV000564956	p.Gln947Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685901T>G	ClinVar
RCV000221925	p.Gln947Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685901T>C	ClinVar
rs876659756	p.Gln947Pro	missense variant	-	NC_000017.11:g.61685901T>G	-
RCV000773825	p.Cys948Trp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685897A>C	ClinVar
NCI-TCGA novel	p.Lys950Thr	missense variant	-	NC_000017.11:g.61685892T>G	NCI-TCGA
RCV000160325	p.Ile951Val	missense variant	-	NC_000017.11:g.61685890T>C	ClinVar
RCV000775410	p.Ile951Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685890T>C	ClinVar
rs730881626	p.Ile951Val	missense variant	-	NC_000017.11:g.61685890T>C	-
rs1060501735	p.Ile952Ser	missense variant	-	NC_000017.11:g.61685886A>C	gnomAD
RCV000709536	p.Ile952Val	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685887T>C	ClinVar
RCV000662447	p.Ile952Val	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685887T>C	ClinVar
rs200239986	p.Ile952Val	missense variant	-	NC_000017.11:g.61685887T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000463491	p.Ile952Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61685886A>C	ClinVar
RCV000227974	p.Ile952Val	missense variant	Familial cancer of breast	NC_000017.11:g.61685887T>C	ClinVar
RCV000214349	p.Ile952Val	missense variant	-	NC_000017.11:g.61685887T>C	ClinVar
RCV000565471	p.Ile952Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685886A>C	ClinVar
RCV000758993	p.Thr953Ile	missense variant	-	NC_000017.11:g.61685883G>A	ClinVar
rs587780245	p.Thr953Pro	missense variant	-	NC_000017.11:g.61685884T>G	-
rs201672040	p.Thr953Ile	missense variant	-	NC_000017.11:g.61685883G>A	1000Genomes,ExAC,gnomAD
RCV000116150	p.Thr953Pro	missense variant	-	NC_000017.11:g.61685884T>G	ClinVar
RCV000468640	p.Asn955Asp	missense variant	Familial cancer of breast	NC_000017.11:g.61685878T>C	ClinVar
RCV000464105	p.Asn955His	missense variant	Familial cancer of breast	NC_000017.11:g.61685878T>G	ClinVar
rs587782244	p.Asn955His	missense variant	-	NC_000017.11:g.61685878T>G	TOPMed,gnomAD
rs587782244	p.Asn955Asp	missense variant	-	NC_000017.11:g.61685878T>C	TOPMed,gnomAD
RCV000579631	p.Asn955Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685878T>C	ClinVar
RCV000367894	p.Asn955His	missense variant	-	NC_000017.11:g.61685878T>G	ClinVar
RCV000130948	p.Asn955His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685878T>G	ClinVar
RCV000576318	p.Ser956Ter	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685874G>C	ClinVar
rs761639530	p.Ser956Leu	missense variant	-	NC_000017.11:g.61685874G>A	ExAC,gnomAD
rs761639530	p.Ser956Ter	stop gained	-	NC_000017.11:g.61685874G>C	ExAC,gnomAD
rs761639530	p.Ser956Leu	missense variant	-	NC_000017.11:g.61685874G>A	NCI-TCGA Cosmic
rs786203077	p.Pro957Leu	missense variant	-	NC_000017.11:g.61685871G>A	-
RCV000508234	p.Pro957Leu	missense variant	-	NC_000017.11:g.61685871G>A	ClinVar
RCV000166219	p.Pro957Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685871G>A	ClinVar
RCV000469949	p.Pro957Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61685871G>A	ClinVar
RCV000588258	p.Leu958Gln	missense variant	-	NC_000017.11:g.61685868A>T	ClinVar
rs145859791	p.Leu958Gln	missense variant	-	NC_000017.11:g.61685868A>T	ESP,ExAC,TOPMed,gnomAD
RCV000542669	p.Leu958Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61685868A>T	ClinVar
RCV000166915	p.Leu958Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685868A>T	ClinVar
RCV000709535	p.Pro959Arg	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685865G>C	ClinVar
RCV000796026	p.Pro959Arg	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685865G>C	ClinVar
rs1060501732	p.Ser961Asn	missense variant	-	NC_000017.11:g.61685859C>T	-
RCV000461289	p.Ser961Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61685859C>T	ClinVar
rs786201632	p.Ile962Thr	missense variant	-	NC_000017.11:g.61685856A>G	TOPMed,gnomAD
RCV000662667	p.Ile962Thr	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685856A>G	ClinVar
RCV000164008	p.Ile962Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685856A>G	ClinVar
RCV000586686	p.Ile962Thr	missense variant	-	NC_000017.11:g.61685856A>G	ClinVar
RCV000197368	p.Ile962Thr	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685856A>G	ClinVar
rs113697814	p.Arg965Gly	missense variant	-	NC_000017.11:g.61685848T>C	ExAC,gnomAD
rs1305928655	p.Glu967Lys	missense variant	-	NC_000017.11:g.61685842C>T	NCI-TCGA
rs1176224216	p.Glu967Gly	missense variant	-	NC_000017.11:g.61685841T>C	TOPMed
rs1305928655	p.Glu967Lys	missense variant	-	NC_000017.11:g.61685842C>T	gnomAD
RCV000562545	p.Glu967Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685841T>C	ClinVar
RCV000636061	p.Glu967Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61685842C>T	ClinVar
RCV000771510	p.Glu967Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685842C>T	ClinVar
rs587782679	p.Lys968Glu	missense variant	-	NC_000017.11:g.61685839T>C	ExAC,TOPMed,gnomAD
RCV000132105	p.Lys968Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685839T>C	ClinVar
rs1555572994	p.Asp970Asn	missense variant	-	NC_000017.11:g.61684138C>T	-
RCV000531641	p.Asp970Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61684138C>T	ClinVar
RCV000662959	p.Val972Ile	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61684132C>T	ClinVar
RCV000472014	p.Val972Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61684132C>T	ClinVar
RCV000709533	p.Val972Ile	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61684132C>T	ClinVar
RCV000166442	p.Val972Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684132C>T	ClinVar
rs786203224	p.Val972Ile	missense variant	-	NC_000017.11:g.61684132C>T	TOPMed,gnomAD
RCV000775755	p.Phe973Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684129A>T	ClinVar
rs1060501727	p.Phe973Ile	missense variant	-	NC_000017.11:g.61684129A>T	-
RCV000470953	p.Phe973Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61684129A>T	ClinVar
rs770352467	p.Ala977Val	missense variant	-	NC_000017.11:g.61684116G>A	ExAC,gnomAD
RCV000204833	p.Ala977Pro	missense variant	Familial cancer of breast	NC_000017.11:g.61684117C>G	ClinVar
rs864622628	p.Ala977Pro	missense variant	-	NC_000017.11:g.61684117C>G	-
rs587780246	p.Gly978Glu	missense variant	-	NC_000017.11:g.61684113C>T	-
RCV000116151	p.Gly978Glu	missense variant	-	NC_000017.11:g.61684113C>T	ClinVar
RCV000160326	p.Lys979Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684111T>C	ClinVar
rs730881627	p.Lys979Glu	missense variant	-	NC_000017.11:g.61684111T>C	TOPMed,gnomAD
RCV000212331	p.Lys979Glu	missense variant	-	NC_000017.11:g.61684111T>C	ClinVar
RCV000205057	p.Lys979Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61684111T>C	ClinVar
rs781622986	p.Ala980Val	missense variant	-	NC_000017.11:g.61684107G>A	ExAC,gnomAD
rs1316369686	p.Lys982Glu	missense variant	-	NC_000017.11:g.61684102T>C	gnomAD
RCV000773059	p.Lys982Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684102T>C	ClinVar
RCV000527467	p.Ile983Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61684104del	ClinVar
RCV000708605	p.Ile983Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684104del	ClinVar
RCV000580476	p.Ile983Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684104dup	ClinVar
RCV000470250	p.Ile983Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61684104dup	ClinVar
RCV000581206	p.Ile983Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684097A>C	ClinVar
RCV000129283	p.Ile983Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684098A>T	ClinVar
RCV000636117	p.Ile983Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61684098A>T	ClinVar
rs746715917	p.Ile983Met	missense variant	-	NC_000017.11:g.61684097A>C	ExAC,gnomAD
rs587781417	p.Ile983Asn	missense variant	-	NC_000017.11:g.61684098A>T	-
rs755337038	p.Ile983Phe	missense variant	-	NC_000017.11:g.61684099T>A	ExAC,gnomAD
RCV000412403	p.Ile983Asn	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61684098A>T	ClinVar
NCI-TCGA novel	p.Ile983LeuPheSerTerUnk	frameshift	-	NC_000017.11:g.61684099T>-	NCI-TCGA
COSM3520420	p.Ile983Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61684098A>C	NCI-TCGA Cosmic
RCV000409964	p.Ile983Asn	missense variant	Neoplasm of ovary	NC_000017.11:g.61684098A>T	ClinVar
RCV000575520	p.Ile985Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684091A>C	ClinVar
rs1555572950	p.Ile985Met	missense variant	-	NC_000017.11:g.61684091A>C	-
RCV000697466	p.Ser986Cys	missense variant	Familial cancer of breast	NC_000017.11:g.61684089G>C	ClinVar
RCV000221048	p.Ser986Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684089G>C	ClinVar
rs182087528	p.Ser986Cys	missense variant	-	NC_000017.11:g.61684089G>C	1000Genomes,ExAC,gnomAD
RCV000709532	p.Arg987Ser	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61684085T>G	ClinVar
RCV000568516	p.Ser988Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684083G>A	ClinVar
RCV000799177	p.Ser988Phe	missense variant	Familial cancer of breast	NC_000017.11:g.61684083G>A	ClinVar
rs758032378	p.Ser988Phe	missense variant	-	NC_000017.11:g.61684083G>A	ExAC,gnomAD
RCV000564653	p.Pro991Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684075G>A	ClinVar
rs1555572936	p.Pro991Ser	missense variant	-	NC_000017.11:g.61684075G>A	-
rs1276811545	p.Thr992Ala	missense variant	-	NC_000017.11:g.61684072T>C	gnomAD
RCV000480248	p.Thr992Ter	frameshift	-	NC_000017.11:g.61684073del	ClinVar
RCV000507744	p.Thr992Ala	missense variant	-	NC_000017.11:g.61684072T>C	ClinVar
rs1060501756	p.Phe993Leu	missense variant	-	NC_000017.11:g.61684067G>C	-
RCV000472413	p.Phe993Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61684067G>C	ClinVar
rs1555572929	p.Lys995Glu	missense variant	-	NC_000017.11:g.61684063T>C	-
RCV000579932	p.Lys995Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684063T>C	ClinVar
RCV000773988	p.Gln996Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684060G>C	ClinVar
rs749978235	p.Thr997Ile	missense variant	-	NC_000017.11:g.61684056G>A	ExAC,TOPMed,gnomAD
RCV000758995	p.Thr997Ile	missense variant	-	NC_000017.11:g.61684056G>A	ClinVar
RCV000772635	p.Thr997Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684056G>A	ClinVar
RCV000636087	p.Thr997Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61684056G>A	ClinVar
RCV000780050	p.Thr997Ile	missense variant	-	NC_000017.11:g.61684056G>A	ClinVar
RCV000579973	p.Lys998Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684053T>A	ClinVar
rs757225144	p.Lys998Asn	missense variant	-	NC_000017.11:g.61684052C>G	ExAC
RCV000544259	p.Lys998Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61684052C>G	ClinVar
RCV000220971	p.Lys998Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684052C>G	ClinVar
RCV000217097	p.Lys998Asn	missense variant	-	NC_000017.11:g.61684052C>G	ClinVar
RCV000458808	p.Lys998Ter	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61684052_61684055del	ClinVar
RCV000167141	p.Lys998Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684052_61684055del	ClinVar
RCV000663176	p.Lys998Ter	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61684052_61684055del	ClinVar
RCV000581118	p.Lys998Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684053T>C	ClinVar
RCV000478533	p.Lys998Ter	frameshift	-	NC_000017.11:g.61684052_61684055del	ClinVar
rs1555572922	p.Lys998Arg	missense variant	-	NC_000017.11:g.61684053T>C	-
rs1555572922	p.Lys998Met	missense variant	-	NC_000017.11:g.61684053T>A	-
RCV000771666	p.Val1000Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684046_61684049del	ClinVar
RCV000812231	p.Trp1002Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61684045_61684046insGTCAAGCT	ClinVar
rs546083449	p.Trp1002Cys	missense variant	-	NC_000017.11:g.61684040C>A	1000Genomes,ExAC,gnomAD
RCV000165914	p.Trp1002Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684045_61684046insGTCAAGCT	ClinVar
RCV000758996	p.Trp1002Ter	frameshift	-	NC_000017.11:g.61684045_61684046insGTCAAGCT	ClinVar
rs753664225	p.Trp1002Ter	stop gained	-	NC_000017.11:g.61684041C>T	ExAC
rs546083449	p.Trp1002Cys	missense variant	-	NC_000017.11:g.61684040C>G	1000Genomes,ExAC,gnomAD
RCV000215027	p.Trp1002Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684040C>G	ClinVar
rs766562396	p.Ser1004Asn	missense variant	-	NC_000017.11:g.61684035C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser1004GluPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.61684036_61684037insGAGGATTGCATAGATACAAAGTTGAATGGAATTC	NCI-TCGA
RCV000275619	p.Ser1007Tyr	missense variant	Fanconi anemia (FA)	NC_000017.11:g.61684026G>T	ClinVar
RCV000570242	p.Ser1007Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684026G>T	ClinVar
RCV000811266	p.Ser1007Tyr	missense variant	Familial cancer of breast	NC_000017.11:g.61684026G>T	ClinVar
rs886053214	p.Ser1007Tyr	missense variant	-	NC_000017.11:g.61684026G>T	-
RCV000333091	p.Ser1007Tyr	missense variant	Neoplasm of the breast	NC_000017.11:g.61684026G>T	ClinVar
rs1555572908	p.Gly1009Glu	missense variant	-	NC_000017.11:g.61684020C>T	-
RCV000696070	p.Gly1009Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61684020C>T	ClinVar
RCV000636097	p.Gly1009Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61684021C>T	ClinVar
rs587781328	p.Gly1009Arg	missense variant	-	NC_000017.11:g.61684021C>T	ExAC,gnomAD
rs587781328	p.Gly1009Ter	stop gained	-	NC_000017.11:g.61684021C>A	ExAC,gnomAD
RCV000129073	p.Gly1009Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684021C>T	ClinVar
RCV000689637	p.Tyr1011His	missense variant	Familial cancer of breast	NC_000017.11:g.61684015A>G	ClinVar
rs1372474933	p.Thr1013Ile	missense variant	-	NC_000017.11:g.61684008G>A	TOPMed,gnomAD
rs1278002478	p.Thr1013Ala	missense variant	-	NC_000017.11:g.61684009T>C	TOPMed
RCV000556790	p.Thr1013Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61684008G>A	ClinVar
RCV000568033	p.Thr1013Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684008G>A	ClinVar
RCV000693242	p.Thr1013Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61684009T>C	ClinVar
RCV000569442	p.Thr1013Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684009T>C	ClinVar
RCV000214950	p.Gly1014Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684005C>G	ClinVar
rs876659757	p.Gly1014Ala	missense variant	-	NC_000017.11:g.61684005C>G	gnomAD
rs1006002613	p.Lys1015Arg	missense variant	-	NC_000017.11:g.61684002T>C	TOPMed
RCV000636108	p.Lys1015Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61684002T>C	ClinVar
rs769692303	p.Lys1015Glu	missense variant	-	NC_000017.11:g.61684003T>C	ExAC,gnomAD
RCV000165849	p.Pro1017Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683996G>A	ClinVar
rs747907706	p.Pro1017Leu	missense variant	-	NC_000017.11:g.61683996G>A	ExAC,TOPMed,gnomAD
rs1555572884	p.Ala1019Val	missense variant	-	NC_000017.11:g.61683990G>A	-
RCV000572403	p.Ala1019Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683990G>A	ClinVar
RCV000706762	p.Thr1020Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61683988T>C	ClinVar
rs1064793073	p.Thr1020Ala	missense variant	-	NC_000017.11:g.61683988T>C	TOPMed,gnomAD
RCV000482641	p.Thr1020Ala	missense variant	-	NC_000017.11:g.61683988T>C	ClinVar
RCV000569465	p.Thr1020Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683988T>C	ClinVar
RCV000568293	p.Pro1021Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683985G>A	ClinVar
rs1555572880	p.Pro1021Ser	missense variant	-	NC_000017.11:g.61683985G>A	-
RCV000234363	p.Glu1022Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61683982C>G	ClinVar
RCV000461152	p.Glu1022Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61683982C>T	ClinVar
rs587782808	p.Glu1022Lys	missense variant	-	NC_000017.11:g.61683982C>T	ExAC,TOPMed,gnomAD
rs587782808	p.Glu1022Gln	missense variant	-	NC_000017.11:g.61683982C>G	ExAC,TOPMed,gnomAD
rs747345595	p.Leu1023Pro	missense variant	-	NC_000017.11:g.61683978A>G	ExAC,gnomAD
rs147119272	p.Gly1024Arg	missense variant	-	NC_000017.11:g.61683976C>G	ESP,ExAC,TOPMed,gnomAD
RCV000662973	p.Gly1024Arg	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683976C>T	ClinVar
RCV000129948	p.Gly1024Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683975C>A	ClinVar
rs587781744	p.Gly1024Val	missense variant	-	NC_000017.11:g.61683975C>A	TOPMed,gnomAD
rs147119272	p.Gly1024Arg	missense variant	-	NC_000017.11:g.61683976C>T	ESP,ExAC,TOPMed,gnomAD
RCV000693512	p.Gly1024Val	missense variant	Familial cancer of breast	NC_000017.11:g.61683975C>A	ClinVar
RCV000457812	p.Gly1024Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61683976C>T	ClinVar
RCV000540342	p.Ser1025Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61683976del	ClinVar
RCV000584109	p.Ser1025Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683976del	ClinVar
rs756712872	p.Ser1026Pro	missense variant	-	NC_000017.11:g.61683970A>G	ExAC,gnomAD
RCV000573121	p.Ser1026Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683970A>G	ClinVar
rs863224804	p.Glu1027Gly	missense variant	-	NC_000017.11:g.61683966T>C	gnomAD
RCV000772583	p.Glu1027Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683966T>C	ClinVar
RCV000195734	p.Glu1027Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61683966T>G	ClinVar
rs777660106	p.Glu1027Asp	missense variant	-	NC_000017.11:g.61683965C>G	ExAC,gnomAD
rs371185409	p.Glu1027Lys	missense variant	-	NC_000017.11:g.61683967C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs863224804	p.Glu1027Ala	missense variant	-	NC_000017.11:g.61683966T>G	gnomAD
RCV000460707	p.Glu1027Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61683967C>T	ClinVar
RCV000636059	p.Asn1028Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61683962A>C	ClinVar
rs1060501762	p.Asn1028Ile	missense variant	-	NC_000017.11:g.61683963T>A	TOPMed
rs1060501762	p.Asn1028Ser	missense variant	-	NC_000017.11:g.61683963T>C	TOPMed
rs1424179519	p.Asn1028Lys	missense variant	-	NC_000017.11:g.61683962A>C	gnomAD
RCV000458909	p.Asn1028Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61683963T>C	ClinVar
RCV000565962	p.Asn1028Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683962A>C	ClinVar
rs755949409	p.Ser1029Thr	missense variant	-	NC_000017.11:g.61683960C>G	ExAC,gnomAD
rs767255426	p.Ala1030Val	missense variant	-	NC_000017.11:g.61683957G>A	ExAC,gnomAD
rs767255426	p.Ala1030Gly	missense variant	-	NC_000017.11:g.61683957G>C	ExAC,gnomAD
RCV000412033	p.Ser1032Arg	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683950A>C	ClinVar
RCV000520126	p.Ser1032Arg	missense variant	-	NC_000017.11:g.61683950A>C	ClinVar
rs763162379	p.Ser1032Arg	missense variant	-	NC_000017.11:g.61683950A>C	ExAC
RCV000164450	p.Ser1032Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683950A>C	ClinVar
RCV000409520	p.Ser1032Arg	missense variant	Neoplasm of ovary	NC_000017.11:g.61683950A>C	ClinVar
RCV000636160	p.Ser1032Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61683950A>C	ClinVar
RCV000217140	p.Pro1033Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683949G>T	ClinVar
rs876659119	p.Pro1033Thr	missense variant	-	NC_000017.11:g.61683949G>T	-
rs765416041	p.Pro1034Thr	missense variant	-	NC_000017.11:g.61683946G>T	ExAC,gnomAD
RCV000775409	p.Pro1034Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683946G>T	ClinVar
RCV000557006	p.Pro1034Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61683946G>T	ClinVar
rs1199923024	p.Pro1034Leu	missense variant	-	NC_000017.11:g.61683945G>A	gnomAD
rs1199923024	p.Pro1034Leu	missense variant	-	NC_000017.11:g.61683945G>A	UniProt,dbSNP
VAR_020907	p.Pro1034Leu	missense variant	-	NC_000017.11:g.61683945G>A	UniProt
rs367816363	p.Arg1035His	missense variant	-	NC_000017.11:g.61683942C>T	ESP,ExAC,TOPMed,gnomAD
RCV000781175	p.Arg1035His	missense variant	-	NC_000017.11:g.61683942C>T	ClinVar
RCV000116152	p.Arg1035His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683942C>T	ClinVar
RCV000662500	p.Arg1035His	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683942C>T	ClinVar
RCV000563928	p.Arg1035Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683942C>G	ClinVar
RCV000212333	p.Arg1035His	missense variant	-	NC_000017.11:g.61683942C>T	ClinVar
RCV000196034	p.Arg1035Cys	missense variant	Familial cancer of breast	NC_000017.11:g.61683943G>A	ClinVar
rs367816363	p.Arg1035Pro	missense variant	-	NC_000017.11:g.61683942C>G	ESP,ExAC,TOPMed,gnomAD
rs45437094	p.Arg1035Cys	missense variant	-	NC_000017.11:g.61683943G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000206801	p.Arg1035His	missense variant	Familial cancer of breast	NC_000017.11:g.61683942C>T	ClinVar
rs1555572833	p.Lys1040Thr	missense variant	-	NC_000017.11:g.61683927T>G	-
RCV000572731	p.Lys1040Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683927T>G	ClinVar
RCV000231036	p.Lys1040Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61683928T>G	ClinVar
RCV000218508	p.Lys1040Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683928T>G	ClinVar
rs876659428	p.Lys1040Gln	missense variant	-	NC_000017.11:g.61683928T>G	-
NCI-TCGA novel	p.Lys1040AspPheSerTerUnk	frameshift	-	NC_000017.11:g.61683928_61683929TC>-	NCI-TCGA
RCV000233906	p.Met1041Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61683924A>G	ClinVar
RCV000564914	p.Met1041Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683925T>C	ClinVar
rs761225576	p.Met1041Thr	missense variant	-	NC_000017.11:g.61683924A>G	ExAC,gnomAD
rs1555572831	p.Met1041Val	missense variant	-	NC_000017.11:g.61683925T>C	-
rs776002434	p.Glu1042Lys	missense variant	-	NC_000017.11:g.61683922C>T	ExAC,gnomAD
RCV000565160	p.Glu1042Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683921T>C	ClinVar
rs1555572828	p.Glu1042Gly	missense variant	-	NC_000017.11:g.61683921T>C	-
RCV000537705	p.Ser1043Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61683918C>T	ClinVar
rs1555572825	p.Ser1043Asn	missense variant	-	NC_000017.11:g.61683918C>T	-
rs1344938745	p.Ser1043Gly	missense variant	-	NC_000017.11:g.61683919T>C	TOPMed
RCV000550332	p.Val1046Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61683910C>T	ClinVar
RCV000563297	p.Val1046Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683910C>T	ClinVar
rs1555572824	p.Val1046Ile	missense variant	-	NC_000017.11:g.61683910C>T	-
RCV000636185	p.Leu1047Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61683906A>G	ClinVar
RCV000166612	p.Leu1047Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683906A>G	ClinVar
rs786203344	p.Leu1047Ser	missense variant	-	NC_000017.11:g.61683906A>G	TOPMed,gnomAD
rs772507914	p.Phe1049Leu	missense variant	-	NC_000017.11:g.61683901A>G	ExAC,gnomAD
RCV000776363	p.Thr1050Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683898T>C	ClinVar
RCV000129015	p.Thr1050Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683897G>T	ClinVar
rs373040333	p.Thr1050Asn	missense variant	-	NC_000017.11:g.61683897G>T	ESP,ExAC,gnomAD
RCV000709531	p.Thr1050Pro	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683898T>G	ClinVar
NCI-TCGA novel	p.Asp1051Asn	missense variant	-	NC_000017.11:g.61683895C>T	NCI-TCGA
rs1285783476	p.Lys1052Glu	missense variant	-	NC_000017.11:g.61683892T>C	TOPMed
NCI-TCGA novel	p.Ser1055Phe	missense variant	-	NC_000017.11:g.61683882G>A	NCI-TCGA
NCI-TCGA novel	p.Ser1056Ter	stop gained	-	NC_000017.11:g.61683879G>C	NCI-TCGA
RCV000572464	p.Leu1058Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683867_61683873delinsGAG	ClinVar
rs1400975728	p.Thr1059Arg	missense variant	-	NC_000017.11:g.61683870G>C	gnomAD
rs1400975728	p.Thr1059Ile	missense variant	-	NC_000017.11:g.61683870G>A	gnomAD
RCV000564229	p.Thr1059Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683870G>A	ClinVar
RCV000534521	p.Val1060Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61683868C>T	ClinVar
rs149016505	p.Val1060Ile	missense variant	-	NC_000017.11:g.61683868C>T	ESP,gnomAD
RCV000568104	p.Val1060Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683868C>T	ClinVar
RCV000709530	p.Val1060Ile	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683868C>T	ClinVar
rs778430337	p.Asn1061His	missense variant	-	NC_000017.11:g.61683865T>G	ExAC,gnomAD
rs778430337	p.Asn1061Asp	missense variant	-	NC_000017.11:g.61683865T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn1061Ser	missense variant	-	NC_000017.11:g.61683864T>C	NCI-TCGA
rs770517912	p.Thr1062Ile	missense variant	-	NC_000017.11:g.61683861G>A	ExAC
RCV000575730	p.Thr1062Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683861G>A	ClinVar
NCI-TCGA novel	p.Thr1062IlePheSerTerUnkUnk	frameshift	-	NC_000017.11:g.61683860_61683861TG>-	NCI-TCGA
RCV000216254	p.Ser1063Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683858G>A	ClinVar
RCV000813309	p.Ser1063Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61683858G>A	ClinVar
rs575998972	p.Ser1063Leu	missense variant	-	NC_000017.11:g.61683858G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1063Trp	missense variant	-	NC_000017.11:g.61683858G>C	NCI-TCGA
RCV000780052	p.Ser1063Leu	missense variant	-	NC_000017.11:g.61683858G>A	ClinVar
RCV000709529	p.Phe1064Ser	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683855A>G	ClinVar
RCV000475646	p.Phe1064Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61683855A>G	ClinVar
rs916937983	p.Phe1064Ser	missense variant	-	NC_000017.11:g.61683855A>G	TOPMed
RCV000573965	p.Phe1064Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683855A>G	ClinVar
rs1490736110	p.Gly1065Arg	missense variant	-	NC_000017.11:g.61683853C>T	TOPMed
RCV000460746	p.Ser1066Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61683850del	ClinVar
RCV000576714	p.Ser1066Ter	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683850del	ClinVar
RCV000590317	p.Ser1066Ter	frameshift	-	NC_000017.11:g.61683850del	ClinVar
RCV000220516	p.Ser1066Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683850del	ClinVar
rs1199327421	p.Ser1066Pro	missense variant	-	NC_000017.11:g.61683850A>G	TOPMed
RCV000231423	p.Cys1067Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61683847A>T	ClinVar
rs878855153	p.Cys1067Ser	missense variant	-	NC_000017.11:g.61683847A>T	gnomAD
rs777213170	p.Ser1070Ter	stop gained	-	NC_000017.11:g.61683837G>T	ExAC
RCV000552971	p.Ser1070Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61683838del	ClinVar
RCV000459986	p.Ser1070Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61683837G>T	ClinVar
rs777213170	p.Ser1070Leu	missense variant	-	NC_000017.11:g.61683837G>A	ExAC
NCI-TCGA novel	p.Glu1071Asp	missense variant	-	NC_000017.11:g.61683833T>A	NCI-TCGA
rs756074244	p.Thr1072Ala	missense variant	-	NC_000017.11:g.61683832T>C	ExAC,gnomAD
RCV000775408	p.Thr1072Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683832T>C	ClinVar
rs786204068	p.Thr1072Asn	missense variant	-	NC_000017.11:g.61683831G>T	TOPMed,gnomAD
RCV000167953	p.Thr1072Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61683831G>T	ClinVar
RCV000587674	p.Thr1072Asn	missense variant	-	NC_000017.11:g.61683831G>T	ClinVar
rs786204068	p.Thr1072Ile	missense variant	-	NC_000017.11:g.61683831G>A	TOPMed,gnomAD
rs1219988835	p.Ile1074Thr	missense variant	-	NC_000017.11:g.61683825A>G	gnomAD
rs183928474	p.Ser1075Leu	missense variant	-	NC_000017.11:g.61683822G>A	1000Genomes,ExAC,TOPMed
RCV000662888	p.Ser1075Leu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683822G>A	ClinVar
rs368867532	p.Ser1075Thr	missense variant	-	NC_000017.11:g.61683823A>T	ESP,ExAC,gnomAD
RCV000458321	p.Ser1075Leu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683822G>A	ClinVar
RCV000573382	p.Ser1075Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683823A>T	ClinVar
RCV000254825	p.Ser1075Leu	missense variant	-	NC_000017.11:g.61683822G>A	ClinVar
RCV000220966	p.Ser1075Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683822G>A	ClinVar
rs864622113	p.Ser1076Leu	missense variant	-	NC_000017.11:g.61683819G>A	-
RCV000775407	p.Ser1076Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683819G>A	ClinVar
RCV000204843	p.Ser1076Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61683819G>A	ClinVar
rs1420431000	p.Leu1077Ter	stop gained	-	NC_000017.11:g.61683816A>C	TOPMed
RCV000776642	p.Leu1077Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683816A>C	ClinVar
RCV000165998	p.Lys1078Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683814T>A	ClinVar
rs570238270	p.Lys1078Asn	missense variant	-	NC_000017.11:g.61683812C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs786202927	p.Lys1078Ter	stop gained	-	NC_000017.11:g.61683814T>A	-
NCI-TCGA novel	p.Lys1078Glu	missense variant	-	NC_000017.11:g.61683814T>C	NCI-TCGA
RCV000116154	p.Ile1079Thr	missense variant	-	NC_000017.11:g.61683810A>G	ClinVar
RCV000663136	p.Ile1079Thr	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683810A>G	ClinVar
RCV000780068	p.Ile1079Met	missense variant	-	NC_000017.11:g.61683809A>C	ClinVar
RCV000129821	p.Ile1079Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683809A>C	ClinVar
RCV000200144	p.Ile1079Met	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683809A>C	ClinVar
rs150813402	p.Ile1079Thr	missense variant	-	NC_000017.11:g.61683810A>G	1000Genomes,ExAC,gnomAD
RCV000204707	p.Ile1079Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61683810A>G	ClinVar
RCV000780057	p.Ile1079Thr	missense variant	-	NC_000017.11:g.61683810A>G	ClinVar
RCV000218787	p.Ile1079Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683810A>G	ClinVar
rs587781666	p.Ile1079Met	missense variant	-	NC_000017.11:g.61683809A>C	ExAC,TOPMed,gnomAD
RCV000758998	p.Ile1079Met	missense variant	-	NC_000017.11:g.61683809A>C	ClinVar
RCV000662741	p.Ile1079Met	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683809A>C	ClinVar
RCV000168373	p.Asp1080Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61683808C>T	ClinVar
rs786204230	p.Asp1080Asn	missense variant	-	NC_000017.11:g.61683808C>T	gnomAD
rs1555572749	p.Ala1081Val	missense variant	-	NC_000017.11:g.61683804G>A	-
RCV000657450	p.Ala1081Ter	frameshift	-	NC_000017.11:g.61683806dup	ClinVar
RCV000398289	p.Ala1081Ter	frameshift	BRIP1-Related Disorders	NC_000017.11:g.61683806dup	ClinVar
RCV000579524	p.Ala1081Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683806dup	ClinVar
RCV000576538	p.Ala1081Ter	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683806dup	ClinVar
RCV000589375	p.Ala1081Val	missense variant	-	NC_000017.11:g.61683804G>A	ClinVar
RCV000772531	p.Ala1081Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683805C>T	ClinVar
RCV000773391	p.Leu1083Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683799G>C	ClinVar
rs876660768	p.Thr1084Ile	missense variant	-	NC_000017.11:g.61683795G>A	-
rs876660768	p.Thr1084Ser	missense variant	-	NC_000017.11:g.61683795G>C	-
RCV000775231	p.Thr1084Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683795G>C	ClinVar
RCV000215579	p.Thr1084Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683795G>A	ClinVar
RCV000364269	p.Thr1084Ser	missense variant	Fanconi anemia (FA)	NC_000017.11:g.61683795G>C	ClinVar
RCV000306335	p.Thr1084Ser	missense variant	Neoplasm of the breast	NC_000017.11:g.61683795G>C	ClinVar
RCV000697882	p.Arg1085Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61683792C>G	ClinVar
COSM1589091	p.Lys1086Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61683788T>G	NCI-TCGA Cosmic
RCV000219598	p.Asn1087Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683791dup	ClinVar
RCV000777508	p.Asn1087Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683785A>C	ClinVar
RCV000709528	p.Asn1087Ter	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683791dup	ClinVar
rs1430023275	p.Asn1087Asp	missense variant	-	NC_000017.11:g.61683787T>C	gnomAD
RCV000164623	p.Asn1087Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683786T>C	ClinVar
RCV000551876	p.Asn1087Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61683786T>C	ClinVar
rs786202024	p.Asn1087Ser	missense variant	-	NC_000017.11:g.61683786T>C	TOPMed
RCV000773520	p.Asn1087Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683787T>C	ClinVar
rs878855154	p.His1088Tyr	missense variant	-	NC_000017.11:g.61683784G>A	TOPMed,gnomAD
RCV000564840	p.His1088Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683784G>A	ClinVar
RCV000228140	p.His1088Tyr	missense variant	Familial cancer of breast	NC_000017.11:g.61683784G>A	ClinVar
RCV000568092	p.Ser1089Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683780G>C	ClinVar
rs764205156	p.Ser1089Ala	missense variant	-	NC_000017.11:g.61683781A>C	ExAC,gnomAD
rs761278503	p.Ser1089Cys	missense variant	-	NC_000017.11:g.61683780G>C	ExAC,gnomAD
RCV000205242	p.Ser1089Cys	missense variant	Familial cancer of breast	NC_000017.11:g.61683780G>C	ClinVar
RCV000569744	p.Ser1089Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683781A>C	ClinVar
RCV000471184	p.Ser1089Phe	missense variant	Familial cancer of breast	NC_000017.11:g.61683780G>A	ClinVar
rs761278503	p.Ser1089Phe	missense variant	-	NC_000017.11:g.61683780G>A	ExAC,gnomAD
rs1555572732	p.His1091Tyr	missense variant	-	NC_000017.11:g.61683775G>A	-
RCV000540633	p.His1091Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61683774T>C	ClinVar
RCV000580917	p.His1091Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683775G>A	ClinVar
rs1281827397	p.His1091Gln	missense variant	-	NC_000017.11:g.61683773A>C	TOPMed
rs776129117	p.His1091Arg	missense variant	-	NC_000017.11:g.61683774T>C	ExAC,gnomAD
RCV000563698	p.Pro1092Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683772G>A	ClinVar
RCV000473819	p.Pro1092Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61683772G>A	ClinVar
RCV000636141	p.Pro1092Gln	missense variant	Familial cancer of breast	NC_000017.11:g.61683771G>T	ClinVar
RCV000709527	p.Pro1092Gln	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683771G>T	ClinVar
RCV000442394	p.Pro1092Leu	missense variant	-	NC_000017.11:g.61683771G>A	ClinVar
rs768065626	p.Pro1092Ser	missense variant	-	NC_000017.11:g.61683772G>A	ExAC,TOPMed,gnomAD
rs587780830	p.Pro1092Gln	missense variant	-	NC_000017.11:g.61683771G>T	TOPMed,gnomAD
rs587780830	p.Pro1092Leu	missense variant	-	NC_000017.11:g.61683771G>A	TOPMed,gnomAD
RCV000581888	p.Pro1092Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683771G>T	ClinVar
rs876660638	p.Leu1093Phe	missense variant	-	NC_000017.11:g.61683769G>A	-
RCV000217837	p.Leu1093Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683769G>A	ClinVar
rs1479296707	p.Ser1095Cys	missense variant	-	NC_000017.11:g.61683762G>C	gnomAD
RCV000232395	p.Glu1097Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61683756T>C	ClinVar
RCV000701514	p.Glu1097Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61683756T>G	ClinVar
RCV000584629	p.Glu1097Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683756T>C	ClinVar
RCV000590421	p.Glu1097Ala	missense variant	-	NC_000017.11:g.61683756T>G	ClinVar
RCV000220039	p.Glu1097Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683756T>G	ClinVar
rs770509300	p.Glu1097Gln	missense variant	-	NC_000017.11:g.61683757C>G	ExAC,gnomAD
rs876658746	p.Glu1097Gly	missense variant	-	NC_000017.11:g.61683756T>C	TOPMed,gnomAD
rs876658746	p.Glu1097Ala	missense variant	-	NC_000017.11:g.61683756T>G	TOPMed,gnomAD
COSM1589092	p.Glu1097Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.61683757C>A	NCI-TCGA Cosmic
rs1361161166	p.Ala1098Asp	missense variant	-	NC_000017.11:g.61683753G>T	TOPMed
RCV000657405	p.Ala1098Ter	frameshift	-	NC_000017.11:g.61683744_61683754delinsCTGGATCCAGAGACAA	ClinVar
RCV000477468	p.Leu1099Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61683750A>C	ClinVar
RCV000165832	p.Leu1099Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683750A>C	ClinVar
RCV000506104	p.Leu1099Arg	missense variant	-	NC_000017.11:g.61683750A>C	ClinVar
rs772709195	p.Leu1099Arg	missense variant	-	NC_000017.11:g.61683750A>C	ExAC,TOPMed,gnomAD
rs864622072	p.Asp1100Val	missense variant	-	NC_000017.11:g.61683747T>A	-
RCV000203867	p.Asp1100Val	missense variant	Familial cancer of breast	NC_000017.11:g.61683747T>A	ClinVar
RCV000546539	p.Asp1100Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61683748C>T	ClinVar
rs587781923	p.Asp1100Asn	missense variant	-	NC_000017.11:g.61683748C>T	ExAC,gnomAD
RCV000130274	p.Asp1100Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683748C>T	ClinVar
RCV000709526	p.Asp1100Asn	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683748C>T	ClinVar
COSM3520418	p.Pro1101Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61683744G>A	NCI-TCGA Cosmic
RCV000554552	p.Asp1102Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61683741T>C	ClinVar
rs1350551922	p.Asp1102Asn	missense variant	-	NC_000017.11:g.61683742C>T	gnomAD
rs748140041	p.Asp1102Gly	missense variant	-	NC_000017.11:g.61683741T>C	ExAC,gnomAD
RCV000567090	p.Asp1102Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683742C>T	ClinVar
rs781102464	p.Ile1103Asn	missense variant	-	NC_000017.11:g.61683738A>T	ExAC,TOPMed,gnomAD
RCV000573765	p.Ile1103Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683738A>T	ClinVar
RCV000636088	p.Ile1103Val	missense variant	Familial cancer of breast	NC_000017.11:g.61683739T>C	ClinVar
RCV000463699	p.Ile1103Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61683738A>T	ClinVar
rs781102464	p.Ile1103Thr	missense variant	-	NC_000017.11:g.61683738A>G	ExAC,TOPMed,gnomAD
rs1555572700	p.Ile1103Val	missense variant	-	NC_000017.11:g.61683739T>C	-
RCV000636150	p.Glu1104Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61683736C>A	ClinVar
rs1555572697	p.Glu1104Asp	missense variant	-	NC_000017.11:g.61683734T>A	-
rs1555572698	p.Glu1104Ter	stop gained	-	NC_000017.11:g.61683736C>A	-
RCV000584290	p.Glu1104Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683734T>A	ClinVar
RCV000772523	p.Glu1104Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683735T>A	ClinVar
rs1275343223	p.Val1108Ile	missense variant	-	NC_000017.11:g.61683724C>T	gnomAD
RCV000700540	p.Val1108Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61683724C>T	ClinVar
rs1060501774	p.Glu1110Ter	stop gained	-	NC_000017.11:g.61683718C>A	-
rs1060501742	p.Glu1110Gly	missense variant	-	NC_000017.11:g.61683717T>C	-
RCV000469052	p.Glu1110Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61683717T>C	ClinVar
RCV000775737	p.Glu1110Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683718C>A	ClinVar
RCV000409119	p.Glu1111Gln	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683715C>G	ClinVar
RCV000204181	p.Glu1111Gln	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683715C>G	ClinVar
rs587780248	p.Glu1111Gln	missense variant	-	NC_000017.11:g.61683715C>G	ExAC,TOPMed,gnomAD
RCV000214821	p.Glu1111Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683715C>G	ClinVar
RCV000116155	p.Glu1111Gln	missense variant	-	NC_000017.11:g.61683715C>G	ClinVar
RCV000410336	p.Glu1111Gln	missense variant	Neoplasm of ovary	NC_000017.11:g.61683715C>G	ClinVar
rs968860042	p.Asp1112Asn	missense variant	-	NC_000017.11:g.61683712C>T	TOPMed,gnomAD
RCV000475399	p.Asp1112Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61683712C>T	ClinVar
RCV000636089	p.Asp1112Tyr	missense variant	Familial cancer of breast	NC_000017.11:g.61683712C>A	ClinVar
RCV000477261	p.Asp1112Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61683710A>T	ClinVar
RCV000221951	p.Asp1112Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683710A>T	ClinVar
rs968860042	p.Asp1112Tyr	missense variant	-	NC_000017.11:g.61683712C>A	TOPMed,gnomAD
rs369843642	p.Asp1112Glu	missense variant	-	NC_000017.11:g.61683710A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1112His	missense variant	-	NC_000017.11:g.61683712C>G	NCI-TCGA
RCV000565197	p.Asp1112Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683712C>A	ClinVar
COSM4790378	p.Lys1113Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61683709T>C	NCI-TCGA Cosmic
rs1555572681	p.Gln1114Ter	stop gained	-	NC_000017.11:g.61683706G>A	-
RCV000657729	p.Gln1114Ter	nonsense	-	NC_000017.11:g.61683706G>A	ClinVar
rs1419933310	p.Ser1115Phe	missense variant	-	NC_000017.11:g.61683702G>A	TOPMed,gnomAD
rs1419933310	p.Ser1115Tyr	missense variant	-	NC_000017.11:g.61683702G>T	TOPMed,gnomAD
rs1419933310	p.Ser1115Cys	missense variant	-	NC_000017.11:g.61683702G>C	TOPMed,gnomAD
RCV000562325	p.Ser1115Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683702G>C	ClinVar
RCV000530731	p.Ser1115Phe	missense variant	Familial cancer of breast	NC_000017.11:g.61683702G>A	ClinVar
RCV000688353	p.Ser1115Pro	missense variant	Familial cancer of breast	NC_000017.11:g.61683703A>G	ClinVar
RCV000636178	p.Ser1115Cys	missense variant	Familial cancer of breast	NC_000017.11:g.61683702G>C	ClinVar
RCV000574108	p.Ser1117Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683696G>A	ClinVar
RCV000702483	p.Ser1117Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61683696G>A	ClinVar
RCV000546751	p.Ser1117Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61683697A>C	ClinVar
RCV000164569	p.Ser1117Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683697A>C	ClinVar
rs1555572672	p.Ser1117Leu	missense variant	-	NC_000017.11:g.61683696G>A	-
rs779860140	p.Ser1117Ala	missense variant	-	NC_000017.11:g.61683697A>C	ExAC,TOPMed,gnomAD
COSM291253	p.Ser1117Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.61683696G>C	NCI-TCGA Cosmic
rs1060501773	p.Asn1118Ser	missense variant	-	NC_000017.11:g.61683693T>C	-
RCV000466152	p.Asn1118Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61683693T>C	ClinVar
RCV000636098	p.Asp1120Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61683688C>T	ClinVar
rs1555572663	p.Asp1120Asn	missense variant	-	NC_000017.11:g.61683688C>T	-
COSM1589094	p.Asp1120Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61683687T>G	NCI-TCGA Cosmic
RCV000679784	p.Thr1123Ala	missense variant	-	NC_000017.11:g.61683679T>C	ClinVar
RCV000478257	p.Thr1123Ala	missense variant	-	NC_000017.11:g.61683679T>C	ClinVar
RCV000811671	p.Thr1123Ala	missense variant	Familial cancer of breast	NC_000017.11:g.61683679T>C	ClinVar
rs754056526	p.Thr1123Ala	missense variant	-	NC_000017.11:g.61683679T>C	ExAC,gnomAD
rs1064793894	p.Glu1124Gly	missense variant	-	NC_000017.11:g.61683675T>C	-
RCV000570953	p.Glu1124Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683675T>C	ClinVar
RCV000701214	p.Glu1124Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61683675T>C	ClinVar
RCV000484914	p.Glu1124Gly	missense variant	-	NC_000017.11:g.61683675T>C	ClinVar
RCV000774184	p.Glu1124Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683676_61683677del	ClinVar
RCV000485098	p.Ala1125Gly	missense variant	-	NC_000017.11:g.61683672G>C	ClinVar
rs1064796566	p.Ala1125Gly	missense variant	-	NC_000017.11:g.61683672G>C	-
rs145855459	p.Glu1126Asp	missense variant	-	NC_000017.11:g.61683668T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000116156	p.Glu1126Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683668T>G	ClinVar
NCI-TCGA novel	p.Glu1126LysPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.61683670C>-	NCI-TCGA
NCI-TCGA novel	p.Glu1128Ter	stop gained	-	NC_000017.11:g.61683664C>A	NCI-TCGA
NCI-TCGA novel	p.Ser1129Cys	missense variant	-	NC_000017.11:g.61683660G>C	NCI-TCGA
NCI-TCGA novel	p.Ser1129Tyr	missense variant	-	NC_000017.11:g.61683660G>T	NCI-TCGA
rs1057522432	p.Ile1130Thr	missense variant	-	NC_000017.11:g.61683657A>G	-
RCV000775924	p.Ile1130Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683657A>G	ClinVar
RCV000820751	p.Ile1130Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61683657A>G	ClinVar
RCV000569557	p.Ile1130Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683658T>C	ClinVar
RCV000559311	p.Ile1130Val	missense variant	Familial cancer of breast	NC_000017.11:g.61683658T>C	ClinVar
RCV000165410	p.Ile1130Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683658T>A	ClinVar
rs786202549	p.Ile1130Val	missense variant	-	NC_000017.11:g.61683658T>C	TOPMed
rs786202549	p.Ile1130Phe	missense variant	-	NC_000017.11:g.61683658T>A	TOPMed
RCV000441972	p.Ile1130Thr	missense variant	-	NC_000017.11:g.61683657A>G	ClinVar
rs1555572645	p.Thr1133Ile	missense variant	-	NC_000017.11:g.61683648G>A	-
RCV000560658	p.Thr1133Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61683648G>A	ClinVar
RCV000732737	p.Pro1134Ter	frameshift	-	NC_000017.11:g.61683646del	ClinVar
RCV000772027	p.Pro1134Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683646del	ClinVar
RCV000205001	p.Pro1134Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61683646del	ClinVar
rs369340444	p.Glu1135Lys	missense variant	-	NC_000017.11:g.61683643C>T	ESP,ExAC,TOPMed,gnomAD
RCV000581029	p.Glu1135Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683643C>G	ClinVar
rs1235908208	p.Glu1135Gly	missense variant	-	NC_000017.11:g.61683642T>C	gnomAD
rs369340444	p.Glu1135Gln	missense variant	-	NC_000017.11:g.61683643C>G	ESP,ExAC,TOPMed,gnomAD
RCV000579866	p.Leu1136Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683640G>A	ClinVar
RCV000213148	p.Leu1136Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683627_61683636del	ClinVar
RCV000636184	p.Leu1136Phe	missense variant	Familial cancer of breast	NC_000017.11:g.61683640G>A	ClinVar
rs1555572626	p.Leu1136Phe	missense variant	-	NC_000017.11:g.61683640G>A	-
rs587780249	p.Asp1138Tyr	missense variant	-	NC_000017.11:g.61683634C>A	ExAC,TOPMed,gnomAD
rs587780249	p.Asp1138Asn	missense variant	-	NC_000017.11:g.61683634C>T	ExAC,TOPMed,gnomAD
rs1057518847	p.Asp1138Gly	missense variant	-	NC_000017.11:g.61683633T>C	-
RCV000580458	p.Asp1138Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683633T>A	ClinVar
RCV000691968	p.Asp1138Tyr	missense variant	Familial cancer of breast	NC_000017.11:g.61683634_61683635delinsAG	ClinVar
RCV000459206	p.Asp1138Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61683634C>T	ClinVar
RCV000587926	p.Asp1138Asn	missense variant	-	NC_000017.11:g.61683634C>T	ClinVar
RCV000212335	p.Asp1138Tyr	missense variant	-	NC_000017.11:g.61683634C>A	ClinVar
rs1057518847	p.Asp1138Val	missense variant	-	NC_000017.11:g.61683633T>A	-
RCV000709525	p.Asp1138Asn	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683634C>T	ClinVar
RCV000116157	p.Asp1138Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683634C>A	ClinVar
RCV000414896	p.Asp1138Gly	missense variant	Hereditary cancer	NC_000017.11:g.61683633T>C	ClinVar
RCV000814484	p.Asp1138Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61683633T>C	ClinVar
RCV000586252	p.Asp1138Asn	missense variant	-	NC_000017.11:g.61683634_61683635inv	ClinVar
RCV000583646	p.Asp1138Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683634_61683635inv	ClinVar
RCV000536947	p.Asp1138His	missense variant	Familial cancer of breast	NC_000017.11:g.61683634_61683635delinsGG	ClinVar
RCV000223506	p.Asp1138Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683634C>T	ClinVar
RCV000584427	p.Pro1139Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683630G>A	ClinVar
rs1186451404	p.Pro1139Thr	missense variant	-	NC_000017.11:g.61683631G>T	gnomAD
RCV000801887	p.Pro1139Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61683630G>A	ClinVar
rs1555572613	p.Pro1139Leu	missense variant	-	NC_000017.11:g.61683630G>A	-
rs1034551306	p.Asp1141Val	missense variant	-	NC_000017.11:g.61683624T>A	TOPMed
rs1034551306	p.Asp1141Ala	missense variant	-	NC_000017.11:g.61683624T>G	TOPMed
RCV000524593	p.Asp1141Val	missense variant	Familial cancer of breast	NC_000017.11:g.61683624T>A	ClinVar
rs1279318199	p.Thr1142Lys	missense variant	-	NC_000017.11:g.61683621G>T	gnomAD
rs1279318199	p.Thr1142Arg	missense variant	-	NC_000017.11:g.61683621G>C	gnomAD
rs1217932471	p.Asp1143Asn	missense variant	-	NC_000017.11:g.61683619C>T	gnomAD
rs1315917374	p.Asp1143Glu	missense variant	-	NC_000017.11:g.61683617A>T	gnomAD
rs1279870189	p.Glu1144Lys	missense variant	-	NC_000017.11:g.61683616C>T	gnomAD
RCV000581063	p.Glu1144Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683615T>C	ClinVar
RCV000206799	p.Glu1144Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61683615T>C	ClinVar
RCV000409113	p.Glu1144Gly	missense variant	Neoplasm of ovary	NC_000017.11:g.61683615T>C	ClinVar
RCV000411587	p.Glu1144Gly	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683615T>C	ClinVar
rs774605759	p.Glu1144Gly	missense variant	-	NC_000017.11:g.61683615T>C	ExAC,gnomAD
rs876660035	p.Glu1145Asp	missense variant	-	NC_000017.11:g.61683611T>G	-
rs1378029485	p.Glu1145Lys	missense variant	-	NC_000017.11:g.61683613C>T	gnomAD
RCV000220940	p.Glu1145Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683611T>G	ClinVar
NCI-TCGA novel	p.Glu1145Ala	missense variant	-	NC_000017.11:g.61683612T>G	NCI-TCGA
RCV000164964	p.Lys1146Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683610T>C	ClinVar
RCV000537167	p.Lys1146Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61683610T>C	ClinVar
rs786202247	p.Lys1146Glu	missense variant	-	NC_000017.11:g.61683610T>C	TOPMed
RCV000695230	p.Lys1146Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61683609T>C	ClinVar
RCV000561490	p.Asn1147Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683612dup	ClinVar
RCV000657331	p.Asn1147Ter	frameshift	-	NC_000017.11:g.61683612dup	ClinVar
RCV000636076	p.Asn1147Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61683612dup	ClinVar
rs1258403817	p.Asn1147Asp	missense variant	-	NC_000017.11:g.61683607T>C	TOPMed
RCV000563144	p.Asn1147Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683607T>C	ClinVar
RCV000120402	p.Asp1148Glu	missense variant	-	NC_000017.11:g.61683602G>T	ClinVar
rs28997573	p.Asp1148Glu	missense variant	-	NC_000017.11:g.61683602G>T	ESP,ExAC,TOPMed,gnomAD
rs28997573	p.Asp1148Glu	missense variant	-	NC_000017.11:g.61683602G>T	UniProt,dbSNP
VAR_052193	p.Asp1148Glu	missense variant	-	NC_000017.11:g.61683602G>T	UniProt
NCI-TCGA novel	p.Asp1148Tyr	missense variant	-	NC_000017.11:g.61683604C>A	NCI-TCGA
rs757363615	p.Ala1150Pro	missense variant	-	NC_000017.11:g.61683598C>G	ExAC,gnomAD
rs1064796059	p.Ala1150Gly	missense variant	-	NC_000017.11:g.61683597G>C	-
RCV000479074	p.Ala1150Gly	missense variant	-	NC_000017.11:g.61683597G>C	ClinVar
rs1555572587	p.Glu1151Lys	missense variant	-	NC_000017.11:g.61683595C>T	-
RCV000636109	p.Glu1151Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61683595C>T	ClinVar
rs4987050	p.Asp1153Glu	missense variant	-	NC_000017.11:g.61683587A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4848005	p.Asp1153His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61683589C>G	NCI-TCGA Cosmic
rs769359514	p.Arg1154Gly	missense variant	-	NC_000017.11:g.61683586T>C	ExAC,gnomAD
rs1057522433	p.Arg1154Thr	missense variant	-	NC_000017.11:g.61683585C>G	-
RCV000775895	p.Arg1154Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683585C>G	ClinVar
RCV000427270	p.Arg1154Thr	missense variant	-	NC_000017.11:g.61683585C>G	ClinVar
RCV000820752	p.Arg1154Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61683585C>G	ClinVar
RCV000116158	p.Gly1155Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683582C>T	ClinVar
RCV000662581	p.Gly1155Glu	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683582C>T	ClinVar
RCV000200049	p.Gly1155Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61683582C>T	ClinVar
rs45603843	p.Gly1155Glu	missense variant	-	NC_000017.11:g.61683582C>T	TOPMed,gnomAD
RCV000662347	p.Gly1155Glu	missense variant	-	NC_000017.11:g.61683582C>T	ClinVar
NCI-TCGA novel	p.Gly1155Ter	stop gained	-	NC_000017.11:g.61683583C>A	NCI-TCGA
rs776599258	p.Arg1157Thr	missense variant	-	NC_000017.11:g.61683576C>G	ExAC,gnomAD
rs876659655	p.Leu1158Trp	missense variant	-	NC_000017.11:g.61683573A>C	-
RCV000214687	p.Leu1158Trp	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683573A>C	ClinVar
NCI-TCGA novel	p.Leu1158Phe	missense variant	-	NC_000017.11:g.61683572C>A	NCI-TCGA
RCV000521348	p.Ala1159Thr	missense variant	-	NC_000017.11:g.61683571C>T	ClinVar
RCV000808973	p.Ala1159Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61683571C>T	ClinVar
rs368610199	p.Ala1159Thr	missense variant	-	NC_000017.11:g.61683571C>T	ESP,ExAC,gnomAD
rs368610199	p.Ala1159Ser	missense variant	-	NC_000017.11:g.61683571C>A	ESP,ExAC,gnomAD
RCV000222116	p.Ala1159Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683571C>T	ClinVar
RCV000772628	p.Ile1165Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683553T>G	ClinVar
RCV000636152	p.Ile1165Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61683553T>G	ClinVar
rs771889454	p.Ile1165Leu	missense variant	-	NC_000017.11:g.61683553T>G	ExAC,gnomAD
RCV000571779	p.Ala1167Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683547C>T	ClinVar
rs1555572570	p.Ala1167Thr	missense variant	-	NC_000017.11:g.61683547C>T	-
NCI-TCGA novel	p.Ala1167Val	missense variant	-	NC_000017.11:g.61683546G>A	NCI-TCGA
rs1259866317	p.Lys1168Asn	missense variant	-	NC_000017.11:g.61683542T>G	gnomAD
RCV000506530	p.Lys1168Thr	missense variant	-	NC_000017.11:g.61683543T>G	ClinVar
RCV000701820	p.Lys1168Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61683543T>G	ClinVar
rs749589266	p.Lys1168Thr	missense variant	-	NC_000017.11:g.61683543T>G	ExAC,gnomAD
RCV000205088	p.Asp1169Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61683539G>T	ClinVar
RCV000255184	p.Asp1169Glu	missense variant	-	NC_000017.11:g.61683539G>T	ClinVar
RCV000216628	p.Asp1169Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683539G>T	ClinVar
RCV000473664	p.Asp1169Tyr	missense variant	Familial cancer of breast	NC_000017.11:g.61683541C>A	ClinVar
RCV000130477	p.Asp1169Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683541C>A	ClinVar
rs375741316	p.Asp1169Glu	missense variant	-	NC_000017.11:g.61683539G>T	ESP,ExAC,TOPMed,gnomAD
rs587782029	p.Asp1169Tyr	missense variant	-	NC_000017.11:g.61683541C>A	TOPMed,gnomAD
rs587782552	p.Leu1170Val	missense variant	-	NC_000017.11:g.61683538G>C	-
RCV000706879	p.Leu1170Val	missense variant	Familial cancer of breast	NC_000017.11:g.61683538G>C	ClinVar
NCI-TCGA novel	p.Leu1170Phe	missense variant	-	NC_000017.11:g.61683538G>A	NCI-TCGA
RCV000131766	p.Leu1170Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683538G>C	ClinVar
RCV000233067	p.Phe1171Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61683534A>G	ClinVar
rs878855155	p.Phe1171Ser	missense variant	-	NC_000017.11:g.61683534A>G	TOPMed
NCI-TCGA novel	p.Glu1172Lys	missense variant	-	NC_000017.11:g.61683532C>T	NCI-TCGA
RCV000165581	p.Arg1174Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683525C>G	ClinVar
rs786202662	p.Arg1174Thr	missense variant	-	NC_000017.11:g.61683525C>G	-
rs372799558	p.Thr1175Ala	missense variant	-	NC_000017.11:g.61683523T>C	ESP,TOPMed,gnomAD
RCV000780067	p.Thr1175Ala	missense variant	-	NC_000017.11:g.61683523T>C	ClinVar
RCV000709524	p.Thr1175Ala	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683523T>C	ClinVar
RCV000525915	p.Thr1175Ala	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683523T>C	ClinVar
COSM6081876	p.Ile1176Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61683520T>G	NCI-TCGA Cosmic
RCV000580510	p.Lys1177Phe	insertion	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683518delinsAAAG	ClinVar
rs756313788	p.Lys1177Gln	missense variant	-	NC_000017.11:g.61683517T>G	ExAC,TOPMed,gnomAD
RCV000567944	p.Glu1178Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683513T>A	ClinVar
RCV000538490	p.Glu1178Val	missense variant	Familial cancer of breast	NC_000017.11:g.61683513T>A	ClinVar
RCV000566706	p.Glu1178Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683514C>T	ClinVar
RCV000468712	p.Glu1178Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61683514C>T	ClinVar
RCV000219880	p.Glu1178Ter	nonsense	-	NC_000017.11:g.61683514C>A	ClinVar
rs876661115	p.Glu1178Ter	stop gained	-	NC_000017.11:g.61683514C>A	-
rs876661115	p.Glu1178Lys	missense variant	-	NC_000017.11:g.61683514C>T	-
rs752850661	p.Glu1178Val	missense variant	-	NC_000017.11:g.61683513T>A	ExAC,gnomAD
rs781289228	p.Val1179Ile	missense variant	-	NC_000017.11:g.61683511C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp1180His	missense variant	-	NC_000017.11:g.61683508C>G	NCI-TCGA
rs1443889417	p.Ser1181Ter	stop gained	-	NC_000017.11:g.61683504G>C	gnomAD
rs1555572535	p.Ala1182Thr	missense variant	-	NC_000017.11:g.61683502C>T	-
RCV000555654	p.Ala1182Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61683502C>T	ClinVar
RCV000583448	p.Ala1182Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683502C>T	ClinVar
RCV000700503	p.Val1185Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61683493C>A	ClinVar
RCV000685900	p.Val1185Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61683493C>G	ClinVar
RCV000216904	p.Lys1186Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683490T>C	ClinVar
rs763298204	p.Lys1186Arg	missense variant	-	NC_000017.11:g.61683489T>C	ExAC
rs766709841	p.Lys1186Glu	missense variant	-	NC_000017.11:g.61683490T>C	ExAC,gnomAD
RCV000709523	p.Ala1187Thr	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683487C>T	ClinVar
RCV000160327	p.Ala1187Thr	missense variant	-	NC_000017.11:g.61683487C>T	ClinVar
RCV000573454	p.Ala1187Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683487C>T	ClinVar
RCV000662546	p.Ala1187Thr	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683487C>T	ClinVar
rs367610893	p.Ala1187Thr	missense variant	-	NC_000017.11:g.61683487C>T	ESP,ExAC,TOPMed,gnomAD
RCV000226626	p.Ala1187Thr	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683487C>T	ClinVar
RCV000164518	p.Glu1188Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683484C>T	ClinVar
rs786201962	p.Glu1188Lys	missense variant	-	NC_000017.11:g.61683484C>T	-
RCV000166662	p.Ile1191Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683475T>C	ClinVar
rs761405340	p.Ile1191Val	missense variant	-	NC_000017.11:g.61683475T>C	ExAC,TOPMed,gnomAD
RCV000565825	p.Asp1192Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683471T>A	ClinVar
rs1555572525	p.Asp1192Val	missense variant	-	NC_000017.11:g.61683471T>A	-
rs1368343911	p.Thr1193Ile	missense variant	-	NC_000017.11:g.61683468G>A	gnomAD
NCI-TCGA novel	p.Lys1194Gln	missense variant	-	NC_000017.11:g.61683466T>G	NCI-TCGA
RCV000580546	p.Leu1195Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683460_61683462delinsCC	ClinVar
rs587781677	p.Gly1197Glu	missense variant	-	NC_000017.11:g.61683456C>T	-
RCV000679786	p.Gly1197Glu	missense variant	-	NC_000017.11:g.61683456C>T	ClinVar
RCV000473357	p.Gly1197Glu	missense variant	Familial cancer of breast	NC_000017.11:g.61683456C>T	ClinVar
RCV000129837	p.Gly1197Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683456C>T	ClinVar
RCV000217471	p.Leu1199Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683451G>C	ClinVar
rs876659839	p.Leu1199Val	missense variant	-	NC_000017.11:g.61683451G>C	gnomAD
rs730881628	p.His1200Arg	missense variant	-	NC_000017.11:g.61683447T>C	-
rs1441586932	p.His1200Gln	missense variant	-	NC_000017.11:g.61683446A>T	gnomAD
RCV000160328	p.His1200Arg	missense variant	-	NC_000017.11:g.61683447T>C	ClinVar
rs1396175226	p.Ile1201Val	missense variant	-	NC_000017.11:g.61683445T>C	TOPMed
RCV000233466	p.Glu1202Gly	missense variant	Familial cancer of breast	NC_000017.11:g.61683441T>C	ClinVar
RCV000165933	p.Glu1202Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683441T>C	ClinVar
RCV000214877	p.Glu1202Gly	missense variant	-	NC_000017.11:g.61683441T>C	ClinVar
rs776010326	p.Glu1202Gly	missense variant	-	NC_000017.11:g.61683441T>C	ExAC,TOPMed,gnomAD
rs1285317687	p.Glu1203Lys	missense variant	-	NC_000017.11:g.61683439C>T	gnomAD
rs587782615	p.Glu1203Ile	missense variant	-	NC_000017.11:g.61683438_61683439delinsAT	-
rs1403310555	p.Glu1203Val	missense variant	-	NC_000017.11:g.61683438T>A	gnomAD
RCV000131993	p.Glu1203Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683438_61683439delinsAT	ClinVar
rs768156067	p.Lys1205Asn	missense variant	-	NC_000017.11:g.61683431T>A	ExAC,gnomAD
rs1345178694	p.Lys1205Glu	missense variant	-	NC_000017.11:g.61683433T>C	gnomAD
COSM1589095	p.Lys1205Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61683432T>C	NCI-TCGA Cosmic
rs139539831	p.Asp1207Val	missense variant	-	NC_000017.11:g.61683426T>A	ESP
RCV000540096	p.Asp1208Asn	missense variant	Familial cancer of breast	NC_000017.11:g.61683424C>T	ClinVar
RCV000487009	p.Asp1208His	missense variant	-	NC_000017.11:g.61683424C>G	ClinVar
RCV000689972	p.Asp1208His	missense variant	Familial cancer of breast	NC_000017.11:g.61683424C>G	ClinVar
RCV000678993	p.Asp1208His	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683424C>G	ClinVar
rs760589795	p.Asp1208Asn	missense variant	-	NC_000017.11:g.61683424C>T	ExAC,gnomAD
rs760589795	p.Asp1208His	missense variant	-	NC_000017.11:g.61683424C>G	ExAC,gnomAD
rs1223419621	p.Asp1208Val	missense variant	-	NC_000017.11:g.61683423T>A	gnomAD
COSM1384992	p.Asp1208Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61683423T>C	NCI-TCGA Cosmic
RCV000776820	p.Gly1211Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683415C>T	ClinVar
RCV000696975	p.Gly1211Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61683415C>T	ClinVar
rs771805501	p.Thr1215Ile	missense variant	-	NC_000017.11:g.61683402G>A	ExAC,gnomAD
RCV000701257	p.Thr1216Ile	missense variant	Familial cancer of breast	NC_000017.11:g.61683399G>A	ClinVar
rs542698396	p.Trp1217Cys	missense variant	-	NC_000017.11:g.61683395C>A	ExAC,TOPMed,gnomAD
RCV000227303	p.Trp1217Cys	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683395C>A	ClinVar
RCV000586366	p.Trp1217Ter	nonsense	-	NC_000017.11:g.61683395C>T	ClinVar
RCV000129907	p.Trp1217Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683395C>A	ClinVar
rs542698396	p.Trp1217Ter	stop gained	-	NC_000017.11:g.61683395C>T	ExAC,TOPMed,gnomAD
RCV000662837	p.Trp1217Ter	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683395C>T	ClinVar
NCI-TCGA novel	p.Trp1217Gly	missense variant	-	NC_000017.11:g.61683397A>C	NCI-TCGA
RCV000709522	p.Trp1217Cys	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683395C>A	ClinVar
RCV000483182	p.Trp1217Cys	missense variant	-	NC_000017.11:g.61683395C>A	ClinVar
RCV000166368	p.Trp1217Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683395C>T	ClinVar
RCV000657056	p.Trp1217Cys	missense variant	-	NC_000017.11:g.61683395C>A	ClinVar
RCV000457986	p.Trp1217Ter	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683395C>T	ClinVar
RCV000707033	p.Asn1219His	missense variant	Familial cancer of breast	NC_000017.11:g.61683391T>G	ClinVar
rs1555572476	p.Glu1220Ter	stop gained	-	NC_000017.11:g.61683388C>A	-
rs1555572476	p.Glu1220Lys	missense variant	-	NC_000017.11:g.61683388C>T	-
RCV000562715	p.Glu1220Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683388C>T	ClinVar
RCV000533428	p.Glu1220Ter	nonsense	Familial cancer of breast	NC_000017.11:g.61683388C>A	ClinVar
NCI-TCGA novel	p.Glu1220Val	missense variant	-	NC_000017.11:g.61683387T>A	NCI-TCGA
rs778805688	p.Leu1221Arg	missense variant	-	NC_000017.11:g.61683384A>C	ExAC,gnomAD
RCV000167303	p.Leu1221Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683384A>C	ClinVar
RCV000546037	p.Glu1222Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61683383dup	ClinVar
rs1170304369	p.Glu1222Asp	missense variant	-	NC_000017.11:g.61683380T>G	gnomAD
rs770175142	p.Glu1222Gly	missense variant	-	NC_000017.11:g.61683381T>C	ExAC
RCV000677869	p.Glu1222Ter	frameshift	Neoplasm of the breast	NC_000017.11:g.61683383dup	ClinVar
RCV000567587	p.Glu1222Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683383dup	ClinVar
rs748310432	p.Leu1223Val	missense variant	-	NC_000017.11:g.61683379G>C	ExAC,gnomAD
RCV000230422	p.Thr1226Pro	missense variant	Familial cancer of breast	NC_000017.11:g.61683370T>G	ClinVar
RCV000773241	p.Thr1226Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683370T>G	ClinVar
rs781140410	p.Thr1226Pro	missense variant	-	NC_000017.11:g.61683370T>G	ExAC,gnomAD
RCV000564305	p.His1227Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683366T>C	ClinVar
rs755069935	p.His1227Arg	missense variant	-	NC_000017.11:g.61683366T>C	ExAC,gnomAD
RCV000636180	p.His1227Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61683366T>C	ClinVar
RCV000482462	p.His1227Arg	missense variant	-	NC_000017.11:g.61683366T>C	ClinVar
rs1157058742	p.Ile1229Thr	missense variant	-	NC_000017.11:g.61683360A>G	gnomAD
RCV000584048	p.Ile1229Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683360_61683361del	ClinVar
rs780578438	p.Ile1231Thr	missense variant	-	NC_000017.11:g.61683354A>G	ExAC,gnomAD
rs876659290	p.Ile1231Val	missense variant	-	NC_000017.11:g.61683355T>C	-
rs780578438	p.Ile1231Arg	missense variant	-	NC_000017.11:g.61683354A>C	ExAC,gnomAD
RCV000558507	p.Ile1231Thr	missense variant	Familial cancer of breast	NC_000017.11:g.61683354A>G	ClinVar
RCV000709520	p.Ile1231Met	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683353T>C	ClinVar
RCV000216449	p.Ile1231Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683355T>C	ClinVar
RCV000636086	p.Ile1231Val	missense variant	Familial cancer of breast	NC_000017.11:g.61683355T>C	ClinVar
RCV000709521	p.Ile1231Val	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683355T>C	ClinVar
rs1046992728	p.Ile1231Met	missense variant	-	NC_000017.11:g.61683353T>C	TOPMed,gnomAD
RCV000569978	p.Ile1231Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683353T>C	ClinVar
RCV000530158	p.Lys1232Arg	missense variant	Familial cancer of breast	NC_000017.11:g.61683351T>C	ClinVar
rs1555572446	p.Lys1232Arg	missense variant	-	NC_000017.11:g.61683351T>C	-
RCV000468361	p.Asn1233Lys	missense variant	Familial cancer of breast	NC_000017.11:g.61683347G>T	ClinVar
rs1060501734	p.Asn1233Lys	missense variant	-	NC_000017.11:g.61683347G>T	TOPMed,gnomAD
RCV000574401	p.Asn1233Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683347G>T	ClinVar
RCV000233279	p.Phe1234Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61683346A>G	ClinVar
RCV000120403	p.Phe1234Cys	missense variant	-	NC_000017.11:g.61683345A>C	ClinVar
rs878855156	p.Phe1234Leu	missense variant	-	NC_000017.11:g.61683346A>G	-
rs587778137	p.Phe1234Cys	missense variant	-	NC_000017.11:g.61683345A>C	TOPMed
rs1432536152	p.Lys1235Ile	missense variant	-	NC_000017.11:g.61683342T>A	gnomAD
RCV000771631	p.Lys1235Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683343T>C	ClinVar
rs1060501771	p.Pro1236Ser	missense variant	-	NC_000017.11:g.61683340G>A	-
rs1265133595	p.Pro1236Leu	missense variant	-	NC_000017.11:g.61683339G>A	gnomAD
RCV000477091	p.Pro1236Ser	missense variant	Familial cancer of breast	NC_000017.11:g.61683340G>A	ClinVar
RCV000130095	p.Ser1237Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683336G>A	ClinVar
RCV000606452	p.Ser1237Tyr	missense variant	-	NC_000017.11:g.61683336G>T	ClinVar
rs587781819	p.Ser1237Tyr	missense variant	-	NC_000017.11:g.61683336G>T	-
rs587781819	p.Ser1237Phe	missense variant	-	NC_000017.11:g.61683336G>A	-
rs1192747697	p.Pro1238Ser	missense variant	-	NC_000017.11:g.61683334G>A	gnomAD
rs587781886	p.Ser1239Pro	missense variant	-	NC_000017.11:g.61683331A>G	-
RCV000130216	p.Ser1239Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683331A>G	ClinVar
RCV000459332	p.Gly1243Asp	missense variant	Familial cancer of breast	NC_000017.11:g.61683318C>T	ClinVar
RCV000519725	p.Gly1243Asp	missense variant	-	NC_000017.11:g.61683318C>T	ClinVar
RCV000116159	p.Gly1243Cys	missense variant	-	NC_000017.11:g.61683319C>A	ClinVar
rs587780250	p.Gly1243Cys	missense variant	-	NC_000017.11:g.61683319C>A	ExAC,gnomAD
rs765545033	p.Gly1243Val	missense variant	-	NC_000017.11:g.61683318C>A	ExAC,gnomAD
rs765545033	p.Gly1243Asp	missense variant	-	NC_000017.11:g.61683318C>T	ExAC,gnomAD
RCV000160359	p.Met1244Ter	frameshift	-	NC_000017.11:g.61683315_61683316del	ClinVar
RCV000217493	p.Met1244Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683315_61683316del	ClinVar
rs1260819959	p.Met1244Lys	missense variant	-	NC_000017.11:g.61683315A>T	gnomAD
RCV000205061	p.Met1244Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61683315_61683316del	ClinVar
RCV000470471	p.Met1244Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61683317_61683321dup	ClinVar
rs761468878	p.Met1244Leu	missense variant	-	NC_000017.11:g.61683316T>G	ExAC,gnomAD
rs753516000	p.Met1244Ile	missense variant	-	NC_000017.11:g.61683314C>T	ExAC
RCV000636105	p.Pro1246Leu	missense variant	Familial cancer of breast	NC_000017.11:g.61683309G>A	ClinVar
RCV000222505	p.Pro1246Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683309G>A	ClinVar
rs876660074	p.Pro1246Leu	missense variant	-	NC_000017.11:g.61683309G>A	gnomAD
COSM1589096	p.Pro1246Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61683310G>T	NCI-TCGA Cosmic
rs1196057129	p.Gly1247Ser	missense variant	-	NC_000017.11:g.61683307C>T	TOPMed
rs1555572410	p.PheLysTer1248PheUnk	stop lost	-	NC_000017.11:g.61683299_61683302del	-
RCV000636073	p.Phe1248Cys	missense variant	Familial cancer of breast	NC_000017.11:g.61683303A>C	ClinVar
rs763579793	p.Phe1248Cys	missense variant	-	NC_000017.11:g.61683303A>C	ExAC,gnomAD
RCV000679787	p.Phe1248Leu	missense variant	-	NC_000017.11:g.61683304A>G	ClinVar
RCV000777424	p.Lys1249Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683299_61683302del	ClinVar
RCV000636176	p.Lys1249Ter	frameshift	Familial cancer of breast	NC_000017.11:g.61683299_61683302del	ClinVar

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002871	Anemia	disease	BEFREE
C0005859	Bloom Syndrome	disease	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE;CGI;CTD_human;UNIPROT
C0006826	Malignant Neoplasms	group	CGI
C0007102	Malignant tumor of colon	disease	BEFREE
C0007114	Malignant neoplasm of skin	disease	BEFREE
C0008626	Congenital chromosomal disease	group	BEFREE
C0009207	Cockayne Syndrome	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010828	Cytopenia	phenotype	GENOMICS_ENGLAND
C0014850	Esophageal Atresia	disease	HPO
C0015624	Fanconi Syndrome	disease	BEFREE
C0015625	Fanconi Anemia	disease	BEFREE;CTD_human;LHGDN;ORPHANET
C0023418	leukemia	disease	CGI
C0023467	Leukemia, Myelocytic, Acute	disease	CGI
C0023530	Leukopenia	disease	HPO
C0025202	melanoma	disease	BEFREE
C0025286	Meningioma	disease	BEFREE
C0025362	Mental Retardation	disease	HPO
C0027651	Neoplasms	group	BEFREE
C0027672	Neoplastic Syndromes, Hereditary	group	CLINVAR
C0027831	Neurofibromatosis 1	disease	GENOMICS_ENGLAND
C0029925	Ovarian Carcinoma	disease	BEFREE;CGI;GWASCAT;GWASDB
C0033578	Prostatic Neoplasms	group	LHGDN
C0037932	Curvature of spine	phenotype	HPO
C0040034	Thrombocytopenia	phenotype	HPO
C0040588	Tracheoesophageal Fistula	phenotype	HPO
C0043346	Xeroderma Pigmentosum	disease	BEFREE
C0158995	Congenital anemia	disease	GENOMICS_ENGLAND
C0238033	Carcinoma of Male Breast	disease	BEFREE
C0242787	Malignant neoplasm of male breast	disease	BEFREE
C0265965	Dyskeratosis Congenita	disease	BEFREE
C0272027	Pyridoxine-responsive sideroblastic anemia	disease	HPO
C0278601	Inflammatory Breast Carcinoma	disease	BEFREE
C0278996	Malignant Head and Neck Neoplasm	disease	GENOMICS_ENGLAND
C0281842	Abnormality of the fallopian tube	phenotype	HPO
C0346153	Breast Cancer, Familial	disease	BEFREE;CLINGEN;CLINVAR;GENOMICS_ENGLAND;UNIPROT
C0349588	Short stature	phenotype	HPO
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376545	Hematologic Neoplasms	group	GENOMICS_ENGLAND
C0376628	Chromosome Breakage	phenotype	HPO
C0392386	Decreased platelet count	phenotype	HPO
C0423112	Short palpebral fissure	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0424688	Small head	phenotype	HPO
C0431350	Primary microcephaly	disease	GENOMICS_ENGLAND
C0496920	Neoplasm of uncertain or unknown behavior of ovary	disease	CGI
C0496956	Neoplasm of uncertain or unknown behavior of breast	disease	CGI
C0524910	Hepatitis C, Chronic	disease	BEFREE
C0557874	Global developmental delay	disease	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0598766	Leukemogenesis	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677776	Hereditary Breast and Ovarian Cancer Syndrome	disease	BEFREE;CLINVAR;ORPHANET
C0677886	Epithelial ovarian cancer	disease	BEFREE;GWASCAT;GWASDB
C0678222	Breast Carcinoma	disease	BEFREE;CGI;CTD_human;HPO
C0699790	Colon Carcinoma	disease	BEFREE;CLINVAR
C0700208	Acquired scoliosis	phenotype	HPO
C0858252	Breast adenocarcinoma	disease	CGI
C0917816	Mental deficiency	disease	HPO
C0919267	ovarian neoplasm	disease	CGI;CLINVAR;CTD_human;HPO
C1140680	Malignant neoplasm of ovary	disease	BEFREE;CGI;CLINGEN;CTD_human;HPO;UNIPROT
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1257931	Mammary Neoplasms, Human	group	CTD_human
C1333990	Hereditary Nonpolyposis Colorectal Cancer	disease	BEFREE
C1336076	Sporadic Breast Carcinoma	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE;CTD_human;LHGDN
C1514428	Primary peritoneal carcinoma	disease	HPO
C1527249	Colorectal Cancer	disease	BEFREE
C1762616	Meningioma, benign, no ICD-O subtype	disease	BEFREE
C1836735	hypopigmented skin patch	phenotype	HPO
C1836860	FANCONI ANEMIA, COMPLEMENTATION GROUP J	disease	BEFREE;CLINVAR;CTD_human;UNIPROT
C1843367	Poor school performance	phenotype	HPO
C1855710	Bone marrow hypocellularity	phenotype	HPO
C1859778	Postnatal growth retardation	phenotype	HPO
C1860236	Irregular hyperpigmentation	phenotype	HPO
C1861028	Esophageal atresia with or without tracheoesophageal fistula	disease	CTD_human
C1861906	Breast Cancer, Familial Male	disease	UNIPROT
C1864897	Cognitive delay	phenotype	HPO
C2749463	Aplasia/Hypoplasia of the radius	phenotype	HPO
C2931456	Prostate cancer, familial	disease	BEFREE;GENOMICS_ENGLAND
C3469521	FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C4016951	BREAST CANCER, EARLY-ONSET	phenotype	CLINVAR
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4021737	Chromosomal breakage induced by crosslinking agents	phenotype	HPO
C4024780	Almond-shaped palpebral fissure	phenotype	HPO
C4025414	Radial club hand	disease	GENOMICS_ENGLAND

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003677	DNA binding	NAS
GO:0003678	DNA helicase activity	NAS
GO:0003678	DNA helicase activity	IBA
GO:0003682	chromatin binding	IEA
GO:0003724	RNA helicase activity	IEA
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IEA
GO:0046872	metal ion binding	IEA
GO:0051539	4 iron, 4 sulfur cluster binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000077	DNA damage checkpoint	NAS
GO:0006260	DNA replication	TAS
GO:0006289	nucleotide-excision repair	IBA
GO:0006302	double-strand break repair	NAS
GO:0006357	regulation of transcription by RNA polymerase II	IDA
GO:0007284	spermatogonial cell division	IEA
GO:0007286	spermatid development	IEA
GO:0008285	negative regulation of cell population proliferation	IEA
GO:0009636	response to toxic substance	IEA
GO:0010629	negative regulation of gene expression	IEA
GO:0010705	meiotic DNA double-strand break processing involved in reciprocal meiotic recombination	IEA
GO:0032508	DNA duplex unwinding	IEA
GO:0051026	chiasma assembly	IEA
GO:0071295	cellular response to vitamin	IEA
GO:0071456	cellular response to hypoxia	IEA
GO:0072520	seminiferous tubule development	IEA
GO:1901796	regulation of signal transduction by p53 class mediator	TAS
GO:1904385	cellular response to angiotensin	IEA
GO:1990918	double-strand break repair involved in meiotic recombination	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	NAS
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS
GO:0005737	cytoplasm	IDA
GO:0031965	nuclear membrane	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	IEA
R-HSA-1640170	Cell Cycle	TAS
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-2564830	Cytosolic iron-sulfur cluster assembly	IEA
R-HSA-3700989	Transcriptional Regulation by TP53	TAS
R-HSA-5633007	Regulation of TP53 Activity	TAS
R-HSA-5685938	HDR through Single Strand Annealing (SSA)	TAS
R-HSA-5685942	HDR through Homologous Recombination (HRR)	TAS
R-HSA-5693532	DNA Double-Strand Break Repair	TAS
R-HSA-5693537	Resolution of D-Loop Structures	TAS
R-HSA-5693538	Homology Directed Repair	TAS
R-HSA-5693554	Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)	TAS
R-HSA-5693567	HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)	TAS
R-HSA-5693568	Resolution of D-loop Structures through Holliday Junction Intermediates	TAS
R-HSA-5693579	Homologous DNA Pairing and Strand Exchange	TAS
R-HSA-5693607	Processing of DNA double-strand break ends	TAS
R-HSA-5693616	Presynaptic phase of homologous DNA pairing and strand exchange	TAS
R-HSA-6804756	Regulation of TP53 Activity through Phosphorylation	TAS
R-HSA-69473	G2/M DNA damage checkpoint	TAS
R-HSA-69481	G2/M Checkpoints	TAS
R-HSA-69620	Cell Cycle Checkpoints	TAS
R-HSA-73857	RNA Polymerase II Transcription	TAS
R-HSA-73894	DNA Repair	TAS
R-HSA-74160	Gene expression (Transcription)	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in increased expression of BRIP1 mRNA	22698814
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of BRIP1 mRNA	25510870
C070055	2,3',4,4',5-pentachlorobiphenyl	2,3',4,4',5-pentachlorobiphenyl results in increased expression of BRIP1 mRNA	31388691
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of BRIP1 mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of BRIP1 mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of BRIP1 mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of BRIP1 mRNA	25510870
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of BRIP1 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of BRIP1 mRNA	20382639
C496492	abrine	abrine results in decreased expression of BRIP1 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of BRIP1 mRNA	22230336
D020106	Acrylamide	Acrylamide results in increased expression of BRIP1 mRNA	28959563
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of BRIP1 mRNA	20106945; 21632981;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of BRIP1 mRNA	28461126
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of BRIP1 mRNA	22228805
C006780	bisphenol A	bisphenol A results in decreased methylation of BRIP1 intron	30906313
C006780	bisphenol A	bisphenol A results in decreased expression of BRIP1 mRNA	29275510
C006780	bisphenol A	bisphenol A results in decreased expression of BRIP1 mRNA	25181051
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of BRIP1 mRNA	23741332
D002117	Calcitriol	Calcitriol results in decreased expression of BRIP1 mRNA	21592394
D002117	Calcitriol	[Testosterone co-treated with Calcitriol] results in decreased expression of BRIP1 mRNA	21592394
D002220	Carbamazepine	Carbamazepine affects the expression of BRIP1 mRNA	24752500
D002509	Cephaloridine	Cephaloridine results in increased expression of BRIP1 mRNA	18500788
D007631	Chlordecone	Chlordecone results in increased expression of BRIP1 mRNA	29458080
C074702	chromium hexavalent ion	chromium hexavalent ion results in decreased expression of BRIP1 mRNA	30690063
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of BRIP1 mRNA	28472532
D002945	Cisplatin	BRIP1 protein results in decreased susceptibility to Cisplatin	21115814
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of BRIP1 mRNA	27392435
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of BRIP1 mRNA	19549813
C408982	CPG-oligonucleotide	CPG-oligonucleotide results in increased expression of BRIP1 mRNA	21878529
D016572	Cyclosporine	Cyclosporine results in decreased expression of BRIP1 mRNA	19159671; 20106945; 21632981; 25562108;
D003703	Demecolcine	Demecolcine results in decreased expression of BRIP1 mRNA	23649840
D004008	Diclofenac	Diclofenac affects the expression of BRIP1 mRNA	24752500
C000944	dicrotophos	dicrotophos results in decreased expression of BRIP1 mRNA	28302478
C014476	diethyl maleate	diethyl maleate results in increased expression of BRIP1 mRNA	21161181
C025605	diisobutyl phthalate	diisobutyl phthalate results in decreased expression of BRIP1 mRNA	29458080
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of BRIP1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of BRIP1 mRNA	30031762
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of BRIP1 mRNA	22079256
D004958	Estradiol	Estradiol results in increased expression of BRIP1 mRNA	24062438; 25321415;
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of BRIP1 mRNA	23649840
D005485	Flutamide	Flutamide results in increased expression of BRIP1 mRNA	24793618
C039281	furan	furan results in increased expression of BRIP1 mRNA	25539665
C000593030	GSK-J4	GSK-J4 results in decreased expression of BRIP1 mRNA	29301935
D006220	Haloperidol	Haloperidol results in increased expression of BRIP1 mRNA	29458080
C545476	incobotulinumtoxinA	incobotulinumtoxinA results in decreased expression of BRIP1 mRNA	29522793
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of BRIP1 mRNA	25613284
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of BRIP1 mRNA	27392435
D007840	Latex	Latex analog results in increased expression of BRIP1 mRNA	24768652
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in increased expression of BRIP1 mRNA	24972896
D008727	Methotrexate	Methotrexate results in decreased expression of BRIP1 mRNA	24657277
D008748	Methylcholanthrene	Methylcholanthrene results in increased expression of BRIP1 mRNA	20713471
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of BRIP1 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of BRIP1 mRNA	26011545
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of BRIP1 mRNA	23649840
D015741	Metribolone	Metribolone results in increased expression of BRIP1 mRNA	19318562
D015741	Metribolone	UXT protein affects the reaction [Metribolone results in increased expression of BRIP1 mRNA]	19318562
C000622638	MLN7243	MLN7243 results in increased sumoylation of BRIP1 protein	31285264
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of BRIP1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of BRIP1 mRNA	25554681
D009532	Nickel	Nickel results in increased expression of BRIP1 mRNA	25583101
D009534	Niclosamide	Niclosamide results in increased expression of BRIP1 mRNA	31398420
C025589	ochratoxin A	ochratoxin A results in increased expression of BRIP1 mRNA	23358140; 24243707;
D010100	Oxygen	Oxygen deficiency results in decreased expression of BRIP1 mRNA	26516004
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of BRIP1 mRNA	27188386
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of BRIP1 mRNA	25510870
C027579	periodate-oxidized adenosine	periodate-oxidized adenosine affects the expression of BRIP1 mRNA	17097637
C058305	phenethyl isothiocyanate	phenethyl isothiocyanate results in decreased expression of BRIP1 mRNA	26678675
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of BRIP1 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of BRIP1 mRNA	22079256; 22714537;
C005556	propionaldehyde	propionaldehyde results in decreased expression of BRIP1 mRNA	26079696
D011441	Propylthiouracil	Propylthiouracil results in increased expression of BRIP1 mRNA	24780913; 25825206;
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of BRIP1 mRNA	23806026
D000077210	Sunitinib	Sunitinib results in decreased expression of BRIP1 mRNA	31533062
D013739	Testosterone	[Testosterone co-treated with Calcitriol] results in decreased expression of BRIP1 mRNA	21592394
D013739	Testosterone	Testosterone results in decreased expression of BRIP1 mRNA	21592394
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of BRIP1 mRNA	22574217
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of BRIP1 mRNA	20106945
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of BRIP1 mRNA	21570461
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of BRIP1 mRNA	25613284
C015559	trimellitic anhydride	trimellitic anhydride results in increased expression of BRIP1 mRNA	19042947
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of BRIP1 mRNA	26179874
D014635	Valproic Acid	Valproic Acid affects the expression of BRIP1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of BRIP1 mRNA	28001369
D014635	Valproic Acid	Valproic Acid affects the expression of BRIP1 mRNA	17963808
D014750	Vincristine	Vincristine results in decreased expression of BRIP1 mRNA	23649840
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of BRIP1 mRNA	20977926

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0004	4Fe-4S
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0067	ATP-binding
KW-0963	Cytoplasm
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-0227	DNA damage
KW-0234	DNA repair
KW-0923	Fanconi anemia
KW-0347	Helicase
KW-0378	Hydrolase
KW-0408	Iron
KW-0411	Iron-sulfur
KW-0479	Metal-binding
KW-0547	Nucleotide-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR006555	ATP-dep_Helicase_C
IPR010614	DEAD_2
IPR014013	Helic_SF1/SF2_ATP-bd_DinG/Rad3
IPR006554	Helicase-like_DEXD_c2
IPR014001	Helicase_ATP-bd
IPR027417	P-loop_NTPase
IPR013020	Rad3/Chl1-like

PROSITE

PROSITE ID	PROSITE Term
PS51193	HELICASE_ATP_BIND_2

Pfam

Pfam ID	Pfam Term
PF06733	DEAD_2
PF13307	Helicase_C_2

Gene: BRIP1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction