CleftGeneDB-Search

Gene: BLM

Basic information

Tag	Content
Uniprot ID	P54132; Q52M96;
Entrez ID	641
Genbank protein ID	AAI15033.1; AAH93622.1; AAA87850.1; AAI01568.1; AAI15031.1; AAW62255.1;
Genbank nucleotide ID	NM_001287247.1; NM_001287246.1; NM_000057.3; NM_001287248.1;
Ensembl protein ID	ENSP00000347232
Ensembl nucleotide ID	ENSG00000197299
Gene name	Bloom syndrome protein
Gene symbol	BLM
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CL/P
Developmental stage
Data sources	Manually collected
Reference	25045080
Functional description	ATP-dependent DNA helicase that unwinds single- and double-stranded DNA in a 3'-5' direction (PubMed:9388193, PubMed:24816114, PubMed:25901030). Participates in DNA replication and repair (PubMed:12019152, PubMed:21325134, PubMed:23509288). Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA (PubMed:21325134). Negatively regulates sister chromatid exchange (SCE) (PubMed:25901030). Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution (PubMed:25901030). Binds single-stranded DNA (ssDNA), forked duplex DNA and DNA Holliday junction (PubMed:20639533, PubMed:24257077, PubMed:25901030).
Sequence	MAAVPQNNLQ EQLERHSART LNNKLSLSKP KFSGFTFKKK TSSDNNVSVT NVSVAKTPVL 60 RNKDVNVTED FSFSEPLPNT TNQQRVKDFF KNAPAGQETQ RGGSKSLLPD FLQTPKEVVC 120 TTQNTPTVKK SRDTALKKLE FSSSPDSLST INDWDDMDDF DTSETSKSFV TPPQSHFVRV 180 STAQKSKKGK RNFFKAQLYT TNTVKTDLPP PSSESEQIDL TEEQKDDSEW LSSDVICIDD 240 GPIAEVHINE DAQESDSLKT HLEDERDNSE KKKNLEEAEL HSTEKVPCIE FDDDDYDTDF 300 VPPSPEEIIS ASSSSSKCLS TLKDLDTSDR KEDVLSTSKD LLSKPEKMSM QELNPETSTD 360 CDARQISLQQ QLIHVMEHIC KLIDTIPDDK LKLLDCGNEL LQQRNIRRKL LTEVDFNKSD 420 ASLLGSLWRY RPDSLDGPME GDSCPTGNSM KELNFSHLPS NSVSPGDCLL TTTLGKTGFS 480 ATRKNLFERP LFNTHLQKSF VSSNWAETPR LGKKNESSYF PGNVLTSTAV KDQNKHTASI 540 NDLERETQPS YDIDNFDIDD FDDDDDWEDI MHNLAASKSS TAAYQPIKEG RPIKSVSERL 600 SSAKTDCLPV SSTAQNINFS ESIQNYTDKS AQNLASRNLK HERFQSLSFP HTKEMMKIFH 660 KKFGLHNFRT NQLEAINAAL LGEDCFILMP TGGGKSLCYQ LPACVSPGVT VVISPLRSLI 720 VDQVQKLTSL DIPATYLTGD KTDSEATNIY LQLSKKDPII KLLYVTPEKI CASNRLISTL 780 ENLYERKLLA RFVIDEAHCV SQWGHDFRQD YKRMNMLRQK FPSVPVMALT ATANPRVQKD 840 ILTQLKILRP QVFSMSFNRH NLKYYVLPKK PKKVAFDCLE WIRKHHPYDS GIIYCLSRRE 900 CDTMADTLQR DGLAALAYHA GLSDSARDEV QQKWINQDGC QVICATIAFG MGIDKPDVRF 960 VIHASLPKSV EGYYQESGRA GRDGEISHCL LFYTYHDVTR LKRLIMMEKD GNHHTRETHF 1020 NNLYSMVHYC ENITECRRIQ LLAYFGENGF NPDFCKKHPD VSCDNCCKTK DYKTRDVTDD 1080 VKSIVRFVQE HSSSQGMRNI KHVGPSGRFT MNMLVDIFLG SKSAKIQSGI FGKGSAYSRH 1140 NAERLFKKLI LDKILDEDLY INANDQAIAY VMLGNKAQTV LNGNLKVDFM ETENSSSVKK 1200 QKALVAKVSQ REEMVKKCLG ELTEVCKSLG KVFGVHYFNI FNTVTLKKLA ESLSSDPEVL 1260 LQIDGVTEDK LEKYGAEVIS VLQKYSEWTS PAEDSSPGIS LSSSRGPGRS AAEELDEEIP 1320 VSSHYFASKT RNERKRKKMP ASQRSKRRKT ASSGSKAKGG SATCRKISSK TKSSSIIGSS 1380 SASHTSQATS GANSKLGIMA PPKPINRPFL KPSYAFS 1417

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
2KV2
2MH9
2RRD
3WE2
3WE3
4CDG
4CGZ
4O3M
5LUP
5MK5
5U6K
2KV2
2RRD
3WE2
4CDG
4CGZ
4O3M

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	BLM	100685609	E2RS76		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	BLM		A0A452E3H5		Capra hircus	Prediction	More>>
1:1 ortholog	BLM	641	P54132	CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Blm	12144	O88700		Mus musculus	Prediction	More>>
1:1 ortholog	BLM		A0A2I3SP55		Pan troglodytes	Prediction	More>>
1:1 ortholog	BLM		A0A5G2R540		Sus scrofa	Prediction	More>>
1:1 ortholog	BLM	100345123	G1T6H2		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Blm		D3ZQW1		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000674307	p.Met1Leu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90747393A>C	ClinVar
RCV000412038	p.Met1Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90747394T>C	ClinVar
rs200399224	p.Ala3Gly	missense variant	-	NC_000015.10:g.90747400C>G	ExAC,gnomAD
rs144706057	p.Val4Asp	missense variant	-	NC_000015.10:g.90747403T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1466614215	p.Val4Ile	missense variant	-	NC_000015.10:g.90747402G>A	gnomAD
RCV000210906	p.Val4Ala	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90747403T>C	ClinVar
rs144706057	p.Val4Ala	missense variant	-	NC_000015.10:g.90747403T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3505417	p.Val4Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90747402G>T	NCI-TCGA Cosmic
RCV000709353	p.Pro5Leu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90747406C>T	ClinVar
rs760982604	p.Pro5Ser	missense variant	-	NC_000015.10:g.90747405C>T	ExAC
rs1248128883	p.Gln6Arg	missense variant	-	NC_000015.10:g.90747409A>G	gnomAD
RCV000469793	p.Asn8Lys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90747416T>G	ClinVar
rs1060500635	p.Asn8Lys	missense variant	-	NC_000015.10:g.90747416T>G	-
rs1189105027	p.Leu9Pro	missense variant	-	NC_000015.10:g.90747418T>C	gnomAD
rs776826506	p.Gln10Ter	stop gained	-	NC_000015.10:g.90747420C>T	ExAC,gnomAD
rs759714714	p.Glu14Gly	missense variant	-	NC_000015.10:g.90747433A>G	ExAC,TOPMed,gnomAD
rs148545569	p.Arg15Cys	missense variant	-	NC_000015.10:g.90747435C>T	ESP,ExAC,TOPMed,gnomAD
RCV000779839	p.Arg15His	missense variant	-	NC_000015.10:g.90747436G>A	ClinVar
rs148545569	p.Arg15Ser	missense variant	-	NC_000015.10:g.90747435C>A	ESP,ExAC,TOPMed,gnomAD
rs752755503	p.Arg15His	missense variant	-	NC_000015.10:g.90747436G>A	ExAC,TOPMed,gnomAD
RCV000463869	p.Arg15His	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90747436G>A	ClinVar
rs148545569	p.Arg15Cys	missense variant	-	NC_000015.10:g.90747435C>T	NCI-TCGA
RCV000227410	p.Arg15Cys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90747435C>T	ClinVar
RCV000560243	p.Arg19Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90747449A>T	ClinVar
rs1555418008	p.Arg19Ser	missense variant	-	NC_000015.10:g.90747449A>T	-
rs1370338581	p.Asn22Asp	missense variant	-	NC_000015.10:g.90747456A>G	gnomAD
rs1368566341	p.Leu27Ile	missense variant	-	NC_000015.10:g.90747471C>A	gnomAD
rs1223618819	p.Pro30Gln	missense variant	-	NC_000015.10:g.90747481C>A	gnomAD
COSM217089	p.Pro30Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90747481C>T	NCI-TCGA Cosmic
COSM120022	p.Pro30Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90747481C>G	NCI-TCGA Cosmic
RCV000531703	p.Ser33Leu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90747490C>T	ClinVar
rs1286825856	p.Ser33Pro	missense variant	-	NC_000015.10:g.90747489T>C	gnomAD
rs139282091	p.Ser33Leu	missense variant	-	NC_000015.10:g.90747490C>T	NCI-TCGA
rs139282091	p.Ser33Leu	missense variant	-	NC_000015.10:g.90747490C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000568835	p.Ser33Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90747490C>T	ClinVar
rs533736036	p.Thr41Ile	missense variant	-	NC_000015.10:g.90749390C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs763065919	p.Ser42Tyr	missense variant	-	NC_000015.10:g.90749393C>A	ExAC,gnomAD
rs1291378382	p.Ser42Pro	missense variant	-	NC_000015.10:g.90749392T>C	gnomAD
RCV000628623	p.Ser42Pro	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749392T>C	ClinVar
RCV000575777	p.Ser42Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749392T>C	ClinVar
RCV000670432	p.Asp44Tyr	insertion	Bloom syndrome (BLM)	NC_000015.10:g.90749397_90749398insTAT	ClinVar
rs1249086421	p.Asp44Tyr	missense variant	-	NC_000015.10:g.90749398G>T	gnomAD
RCV000529582	p.Asn45Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749402A>G	ClinVar
rs1555418242	p.Asn45Ser	missense variant	-	NC_000015.10:g.90749402A>G	-
rs1237910576	p.Asn46Ser	missense variant	-	NC_000015.10:g.90749405A>G	TOPMed
RCV000699899	p.Asn46Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749405A>G	ClinVar
COSM3505418	p.Ser48Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90749411C>T	NCI-TCGA Cosmic
rs558379347	p.Val49Ile	missense variant	-	NC_000015.10:g.90749413G>A	1000Genomes,ExAC,gnomAD
rs1555418248	p.Ser53Thr	missense variant	-	NC_000015.10:g.90749425T>A	-
RCV000525338	p.Ser53Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749425T>A	ClinVar
rs1222785570	p.Lys56Arg	missense variant	-	NC_000015.10:g.90749435A>G	TOPMed,gnomAD
RCV000330317	p.Leu60Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749446T>A	ClinVar
rs138542210	p.Leu60Ile	missense variant	-	NC_000015.10:g.90749446T>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000465204	p.Arg61Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749450G>T	ClinVar
rs1060500644	p.Arg61Thr	missense variant	-	NC_000015.10:g.90749450G>C	gnomAD
rs1060500644	p.Arg61Ile	missense variant	-	NC_000015.10:g.90749450G>T	gnomAD
NCI-TCGA novel	p.Arg61Lys	missense variant	-	NC_000015.10:g.90749450G>A	NCI-TCGA
rs146735953	p.Asn62Lys	missense variant	-	NC_000015.10:g.90749454T>G	ESP,ExAC,TOPMed,gnomAD
RCV000546483	p.Asn62Lys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749454T>G	ClinVar
rs140382474	p.Asp64Ala	missense variant	-	NC_000015.10:g.90749459A>C	ESP,ExAC,TOPMed,gnomAD
RCV000552084	p.Asp64Ala	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749459A>C	ClinVar
rs140382474	p.Asp64Val	missense variant	-	NC_000015.10:g.90749459A>T	ESP,ExAC,TOPMed,gnomAD
rs140382474	p.Asp64Gly	missense variant	-	NC_000015.10:g.90749459A>G	ESP,ExAC,TOPMed,gnomAD
RCV000503861	p.Asp64Gly	missense variant	-	NC_000015.10:g.90749459A>G	ClinVar
RCV000574815	p.Asp64Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749459A>T	ClinVar
RCV000360928	p.Asp64Ala	missense variant	-	NC_000015.10:g.90749459A>C	ClinVar
RCV000564482	p.Val67Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749468T>A	ClinVar
rs1555418261	p.Val67Asp	missense variant	-	NC_000015.10:g.90749468T>A	-
rs144134597	p.Thr68Asn	missense variant	-	NC_000015.10:g.90749471C>A	ESP,ExAC,TOPMed,gnomAD
rs746195311	p.Glu69Ter	stop gained	-	NC_000015.10:g.90749473G>T	ExAC,TOPMed,gnomAD
rs746195311	p.Glu69Lys	missense variant	-	NC_000015.10:g.90749473G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000171242	p.Glu69Lys	missense variant	-	NC_000015.10:g.90749473G>A	ClinVar
rs746195311	p.Glu69Lys	missense variant	-	NC_000015.10:g.90749473G>A	ExAC,TOPMed,gnomAD
RCV000579258	p.Glu69Ter	nonsense	-	NC_000015.10:g.90749473G>T	ClinVar
rs769957028	p.Asp70Asn	missense variant	-	NC_000015.10:g.90749476G>A	ExAC,gnomAD
RCV000628617	p.Asp70Asn	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749476G>A	ClinVar
rs769957028	p.Asp70Tyr	missense variant	-	NC_000015.10:g.90749476G>T	ExAC,gnomAD
RCV000534534	p.Ser72Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90749481_90749482del	ClinVar
rs146521411	p.Ser72Ala	missense variant	-	NC_000015.10:g.90749482T>G	ESP,ExAC,TOPMed,gnomAD
rs763193533	p.Ser74Ile	missense variant	-	NC_000015.10:g.90749489G>T	ExAC,gnomAD
rs1205667946	p.Glu75Gln	missense variant	-	NC_000015.10:g.90749491G>C	gnomAD
NCI-TCGA novel	p.Glu75Lys	missense variant	-	NC_000015.10:g.90749491G>A	NCI-TCGA
rs768843912	p.Pro76Ser	missense variant	-	NC_000015.10:g.90749494C>T	ExAC,TOPMed,gnomAD
rs774515970	p.Pro76Leu	missense variant	-	NC_000015.10:g.90749495C>T	ExAC,gnomAD
RCV000628621	p.Pro76Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749494C>T	ClinVar
rs768843912	p.Pro76Thr	missense variant	-	NC_000015.10:g.90749494C>A	ExAC,TOPMed,gnomAD
RCV000565575	p.Pro76Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749494C>T	ClinVar
RCV000547942	p.Pro76Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749494C>A	ClinVar
RCV000628647	p.Leu77Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749497C>G	ClinVar
rs1189540324	p.Leu77Arg	missense variant	-	NC_000015.10:g.90749498T>G	gnomAD
rs1555418283	p.Leu77Val	missense variant	-	NC_000015.10:g.90749497C>G	-
rs1449002455	p.Pro78Ser	missense variant	-	NC_000015.10:g.90749500C>T	gnomAD
RCV000555676	p.Thr80Ala	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749506A>G	ClinVar
rs766303926	p.Thr80Asn	missense variant	-	NC_000015.10:g.90749507C>A	ExAC,gnomAD
rs1555418290	p.Thr80Ala	missense variant	-	NC_000015.10:g.90749506A>G	-
RCV000457396	p.Thr81Ala	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749509A>G	ClinVar
rs1060500637	p.Thr81Ala	missense variant	-	NC_000015.10:g.90749509A>G	-
RCV000628614	p.Asn82Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749513A>G	ClinVar
rs1555418292	p.Asn82Ser	missense variant	-	NC_000015.10:g.90749513A>G	-
rs377192173	p.Gln83Arg	missense variant	-	NC_000015.10:g.90749516A>G	ESP,TOPMed,gnomAD
RCV000628616	p.Gln83Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749516A>G	ClinVar
rs141503266	p.Arg85Thr	missense variant	-	NC_000015.10:g.90749522G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000226920	p.Arg85Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749522G>C	ClinVar
COSM69824	p.Arg85Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90749523G>T	NCI-TCGA Cosmic
rs757984551	p.Asp88Glu	missense variant	-	NC_000015.10:g.90749532C>A	ExAC,TOPMed,gnomAD
RCV000812053	p.Asp88Glu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749532C>A	ClinVar
rs752379441	p.Asp88Tyr	missense variant	-	NC_000015.10:g.90749530G>T	ExAC,gnomAD
RCV000572396	p.Asp88Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749532C>A	ClinVar
NCI-TCGA novel	p.Phe89Leu	missense variant	-	NC_000015.10:g.90749533T>C	NCI-TCGA
rs200690226	p.Asn92Asp	missense variant	-	NC_000015.10:g.90749542A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000203080	p.Asn92Asp	missense variant	-	NC_000015.10:g.90749542A>G	ClinVar
RCV000561733	p.Asn92Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749542A>G	ClinVar
RCV000656777	p.Asn92Asp	missense variant	-	NC_000015.10:g.90749542A>G	ClinVar
RCV000462198	p.Asn92Asp	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749542A>G	ClinVar
COSM966521	p.Ala93Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90749546C>A	NCI-TCGA Cosmic
RCV000706284	p.Pro94Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749548C>T	ClinVar
rs1417089374	p.Pro94Ser	missense variant	-	NC_000015.10:g.90749548C>T	TOPMed
rs751028188	p.Ala95Glu	missense variant	-	NC_000015.10:g.90749552C>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln97His	missense variant	-	NC_000015.10:g.90749559G>T	NCI-TCGA
NCI-TCGA novel	p.Glu98Gly	missense variant	-	NC_000015.10:g.90749561A>G	NCI-TCGA
rs757784182	p.Thr99Ala	missense variant	-	NC_000015.10:g.90749563A>G	ExAC,gnomAD
rs745807085	p.Gln100GluPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.90749563_90749564AC>-	NCI-TCGA
rs1201949546	p.Gln100Leu	missense variant	-	NC_000015.10:g.90749567A>T	gnomAD
NCI-TCGA novel	p.Gln100His	missense variant	-	NC_000015.10:g.90749568G>T	NCI-TCGA
RCV000411055	p.Gln100Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90749564_90749565CA[1]	ClinVar
rs781707344	p.Arg101Lys	missense variant	-	NC_000015.10:g.90749570G>A	ExAC,TOPMed,gnomAD
rs781707344	p.Arg101Thr	missense variant	-	NC_000015.10:g.90749570G>C	ExAC,TOPMed,gnomAD
rs1215126785	p.Gly102Ser	missense variant	-	NC_000015.10:g.90749572G>A	TOPMed
rs1186813751	p.Gly102Asp	missense variant	-	NC_000015.10:g.90749573G>A	gnomAD
RCV000463860	p.Ser104Leu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749579C>T	ClinVar
rs1250007850	p.Ser106Leu	missense variant	-	NC_000015.10:g.90749585C>T	gnomAD
RCV000477306	p.Leu107Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90749588dup	ClinVar
rs1198433222	p.Leu108Phe	missense variant	-	NC_000015.10:g.90749592G>T	gnomAD
rs1198433222	p.Leu108Phe	missense variant	-	NC_000015.10:g.90749592G>C	gnomAD
rs1198433222	p.Leu108Phe	missense variant	-	NC_000015.10:g.90749592G>T	NCI-TCGA
RCV000628668	p.Pro109Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749594C>G	ClinVar
rs1555418317	p.Pro109Arg	missense variant	-	NC_000015.10:g.90749594C>G	-
NCI-TCGA novel	p.Asp110Asn	missense variant	-	NC_000015.10:g.90749596G>A	NCI-TCGA
rs1292239409	p.Asp110Gly	missense variant	-	NC_000015.10:g.90749597A>G	TOPMed
rs1376113548	p.Thr114Ile	missense variant	-	NC_000015.10:g.90749609C>T	gnomAD
rs1173491187	p.Pro115Thr	missense variant	-	NC_000015.10:g.90749611C>A	TOPMed,gnomAD
rs1173491187	p.Pro115Ser	missense variant	-	NC_000015.10:g.90749611C>T	TOPMed,gnomAD
RCV000696119	p.Pro115Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749611C>T	ClinVar
rs371100621	p.Pro115Leu	missense variant	-	NC_000015.10:g.90749612C>T	ESP,ExAC,gnomAD
rs749535664	p.Lys116Asn	missense variant	-	NC_000015.10:g.90749616G>C	ExAC
rs768933887	p.Val118Ala	missense variant	-	NC_000015.10:g.90749621T>C	ExAC,gnomAD
RCV000702659	p.Thr121Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749630C>G	ClinVar
rs774608080	p.Thr121Pro	missense variant	-	NC_000015.10:g.90749629A>C	ExAC,TOPMed,gnomAD
RCV000473466	p.Gln123Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749636A>G	ClinVar
RCV000115311	p.Gln123Arg	missense variant	-	NC_000015.10:g.90749636A>G	ClinVar
rs371223446	p.Gln123Arg	missense variant	-	NC_000015.10:g.90749636A>G	ESP,ExAC,TOPMed,gnomAD
rs770825975	p.Asn124Ser	missense variant	-	NC_000015.10:g.90749639A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asn124LysPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.90749635_90749636insA	NCI-TCGA
RCV000628679	p.Asn124Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749639A>G	ClinVar
rs1275199681	p.Thr125Ile	missense variant	-	NC_000015.10:g.90749642C>T	gnomAD
COSM471242	p.Thr125Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90749641A>C	NCI-TCGA Cosmic
rs587778106	p.Pro126Ser	missense variant	-	NC_000015.10:g.90749644C>T	TOPMed
RCV000466017	p.Pro126Leu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749645C>T	ClinVar
rs1060500650	p.Pro126Leu	missense variant	-	NC_000015.10:g.90749645C>T	TOPMed,gnomAD
rs587778106	p.Pro126Ala	missense variant	-	NC_000015.10:g.90749644C>G	TOPMed
RCV000120238	p.Pro126Ala	missense variant	-	NC_000015.10:g.90749644C>G	ClinVar
rs528474170	p.Thr127Ala	missense variant	-	NC_000015.10:g.90749647A>G	1000Genomes,ExAC,gnomAD
rs1269873284	p.Val128Leu	missense variant	-	NC_000015.10:g.90749650G>C	TOPMed,gnomAD
rs1269873284	p.Val128Ile	missense variant	-	NC_000015.10:g.90749650G>A	TOPMed,gnomAD
rs1050583942	p.Lys130Asn	missense variant	-	NC_000015.10:g.90749658A>T	gnomAD
rs765089689	p.Arg132Trp	missense variant	-	NC_000015.10:g.90749662C>T	NCI-TCGA,NCI-TCGA Cosmic
rs765089689	p.Arg132Trp	missense variant	-	NC_000015.10:g.90749662C>T	ExAC,TOPMed,gnomAD
rs775197136	p.Arg132Gln	missense variant	-	NC_000015.10:g.90749663G>A	ExAC,gnomAD
rs762621627	p.Asp133Asn	missense variant	-	NC_000015.10:g.90749665G>A	ExAC,gnomAD
rs373832397	p.Ala135Ser	missense variant	-	NC_000015.10:g.90749671G>T	ESP,ExAC,TOPMed,gnomAD
RCV000465705	p.Ala135Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749671G>T	ClinVar
RCV000566329	p.Ala135Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749671G>T	ClinVar
RCV000115316	p.Ala135Ser	missense variant	-	NC_000015.10:g.90749671G>T	ClinVar
rs28384988	p.Lys137Arg	missense variant	-	NC_000015.10:g.90749678A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000437672	p.Lys137Arg	missense variant	-	NC_000015.10:g.90749678A>G	ClinVar
rs35886055	p.Glu140Gly	missense variant	-	NC_000015.10:g.90749687A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000234547	p.Glu140Gly	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749687A>G	ClinVar
NCI-TCGA novel	p.Ser142IlePheSerTerUnkUnk	frameshift	-	NC_000015.10:g.90749692_90749693insTCAG	NCI-TCGA
rs1488217859	p.Ser143Tyr	missense variant	-	NC_000015.10:g.90749696C>A	TOPMed,gnomAD
rs1478358253	p.Ser143Thr	missense variant	-	NC_000015.10:g.90749695T>A	TOPMed
rs1555418335	p.Pro145Ala	missense variant	-	NC_000015.10:g.90749701C>G	-
RCV000547133	p.Pro145Ala	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749701C>G	ClinVar
rs902876126	p.Asp146Val	missense variant	-	NC_000015.10:g.90749705A>T	TOPMed,gnomAD
RCV000564374	p.Asp146Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749705A>T	ClinVar
RCV000791833	p.Asp146Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749705A>T	ClinVar
NCI-TCGA novel	p.Ser147Tyr	missense variant	-	NC_000015.10:g.90749708C>A	NCI-TCGA
RCV000411717	p.Leu148Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90749711dup	ClinVar
rs750929735	p.Ser149Asn	missense variant	-	NC_000015.10:g.90749714G>A	ExAC,gnomAD
RCV000704430	p.Thr150Ala	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749716A>G	ClinVar
COSM471243	p.Thr150Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90749717C>T	NCI-TCGA Cosmic
RCV000231372	p.Ile151Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749719A>G	ClinVar
rs780472557	p.Ile151Val	missense variant	-	NC_000015.10:g.90749719A>G	ExAC,TOPMed,gnomAD
rs749633106	p.Asn152Ser	missense variant	-	NC_000015.10:g.90749723A>G	ExAC,gnomAD
RCV000557191	p.Asp153His	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749725G>C	ClinVar
rs368158276	p.Asp153His	missense variant	-	NC_000015.10:g.90749725G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp153Tyr	missense variant	-	NC_000015.10:g.90749725G>T	NCI-TCGA
rs1226287991	p.Trp154Arg	missense variant	-	NC_000015.10:g.90749728T>C	gnomAD
rs772175681	p.Asp156Gly	missense variant	-	NC_000015.10:g.90749735A>G	ExAC,TOPMed,gnomAD
rs773103759	p.Met157Thr	missense variant	-	NC_000015.10:g.90749738T>C	ExAC,gnomAD
rs1489481588	p.Met157Ile	missense variant	-	NC_000015.10:g.90749739G>A	gnomAD
rs1210664602	p.Asp158Asn	missense variant	-	NC_000015.10:g.90749740G>A	gnomAD
RCV000673428	p.Asp159Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90749747_90749748del	ClinVar
NCI-TCGA novel	p.Asp159Glu	missense variant	-	NC_000015.10:g.90749745C>A	NCI-TCGA
rs147084654	p.Phe160Ser	missense variant	-	NC_000015.10:g.90749747T>C	1000Genomes,ESP,TOPMed
rs745819553	p.Ser163Phe	missense variant	-	NC_000015.10:g.90749756C>T	ExAC,TOPMed,gnomAD
RCV000460104	p.Ser163Phe	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749756C>T	ClinVar
rs1555418365	p.Glu164Ala	missense variant	-	NC_000015.10:g.90749759A>C	-
rs1052258023	p.Glu164Ter	stop gained	-	NC_000015.10:g.90749758G>T	TOPMed
RCV000628615	p.Glu164Ala	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749759A>C	ClinVar
rs769575660	p.Thr165Ser	missense variant	-	NC_000015.10:g.90749761A>T	ExAC,gnomAD
rs896357448	p.Ser166Leu	missense variant	-	NC_000015.10:g.90749765C>T	TOPMed
rs775285496	p.Lys167Glu	missense variant	-	NC_000015.10:g.90749767A>G	ExAC,TOPMed,gnomAD
RCV000628641	p.Lys167Glu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749767A>G	ClinVar
rs1013299710	p.Phe169Cys	missense variant	-	NC_000015.10:g.90749774T>G	TOPMed
RCV000535364	p.Phe169Cys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749774T>G	ClinVar
rs1366240473	p.Pro172Leu	missense variant	-	NC_000015.10:g.90749783C>T	gnomAD
rs1163233988	p.Pro172Ala	missense variant	-	NC_000015.10:g.90749782C>G	gnomAD
rs762713320	p.Pro173His	missense variant	-	NC_000015.10:g.90749786C>A	ExAC,gnomAD
rs762713320	p.Pro173Leu	missense variant	-	NC_000015.10:g.90749786C>T	ExAC,gnomAD
rs1458936595	p.Pro173Ser	missense variant	-	NC_000015.10:g.90749785C>T	gnomAD
NCI-TCGA novel	p.Ser175Ile	missense variant	-	NC_000015.10:g.90749792G>T	NCI-TCGA
rs1369548679	p.Phe177Val	missense variant	-	NC_000015.10:g.90749797T>G	gnomAD
RCV000709355	p.Val178Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749800G>A	ClinVar
rs1191794374	p.Val178Ile	missense variant	-	NC_000015.10:g.90749800G>A	TOPMed
NCI-TCGA novel	p.Arg179Ile	missense variant	-	NC_000015.10:g.90749804G>T	NCI-TCGA
rs587779893	p.Ser181Ile	missense variant	-	NC_000015.10:g.90749810G>T	ExAC,TOPMed,gnomAD
rs761288442	p.Ser181Arg	missense variant	-	NC_000015.10:g.90749811C>A	ExAC,TOPMed,gnomAD
RCV000567877	p.Ser181Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749810G>T	ClinVar
RCV000472724	p.Ser181Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749811C>A	ClinVar
RCV000464245	p.Ser181Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749810G>T	ClinVar
RCV000674476	p.Ser181Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90749811del	ClinVar
RCV000115320	p.Ser181Ile	missense variant	-	NC_000015.10:g.90749810G>T	ClinVar
rs749838731	p.Thr182Ile	missense variant	-	NC_000015.10:g.90749813C>T	ExAC,TOPMed,gnomAD
RCV000473044	p.Thr182Ala	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749812A>G	ClinVar
rs749838731	p.Thr182Ser	missense variant	-	NC_000015.10:g.90749813C>G	ExAC,TOPMed,gnomAD
rs1060500643	p.Thr182Ala	missense variant	-	NC_000015.10:g.90749812A>G	gnomAD
RCV000563326	p.Thr182Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749813C>T	ClinVar
rs756676685	p.Ala183Asp	missense variant	-	NC_000015.10:g.90749816C>A	ExAC,gnomAD
rs756676685	p.Ala183Val	missense variant	-	NC_000015.10:g.90749816C>T	ExAC,gnomAD
rs971200482	p.Gln184Lys	missense variant	-	NC_000015.10:g.90749818C>A	gnomAD
rs971200482	p.Gln184Glu	missense variant	-	NC_000015.10:g.90749818C>G	gnomAD
rs971200482	p.Gln184Glu	missense variant	-	NC_000015.10:g.90749818C>G	NCI-TCGA Cosmic
COSM702120	p.Gln184Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90749819A>T	NCI-TCGA Cosmic
rs766947105	p.Lys185Asn	missense variant	-	NC_000015.10:g.90749823A>T	ExAC,gnomAD
rs1253019128	p.Ser186Pro	missense variant	-	NC_000015.10:g.90749824T>C	gnomAD
rs367543035	p.SerLys186Ter	stop gained	Bloom syndrome (blm)	NC_000015.10:g.90749825_90749827del	-
RCV000005788	p.Ser186Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90749825_90749827del	ClinVar
rs1253019128	p.Ser186Thr	missense variant	-	NC_000015.10:g.90749824T>A	gnomAD
rs1342383599	p.Ser186Ter	stop gained	-	NC_000015.10:g.90749825C>A	TOPMed,gnomAD
rs907949967	p.Lys188Arg	missense variant	-	NC_000015.10:g.90749831A>G	NCI-TCGA
rs907949967	p.Lys188Arg	missense variant	-	NC_000015.10:g.90749831A>G	gnomAD
rs1180631656	p.Gly189Ser	missense variant	-	NC_000015.10:g.90749833G>A	gnomAD
rs754306004	p.Gly189Asp	missense variant	-	NC_000015.10:g.90749834G>A	ExAC,TOPMed,gnomAD
rs1180631656	p.Gly189Cys	missense variant	-	NC_000015.10:g.90749833G>T	gnomAD
NCI-TCGA novel	p.Arg191Gly	missense variant	-	NC_000015.10:g.90749839A>G	NCI-TCGA
rs569086568	p.Arg191Ile	missense variant	-	NC_000015.10:g.90749840G>T	NCI-TCGA
RCV000545717	p.Arg191Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749840G>T	ClinVar
rs569086568	p.Arg191Ile	missense variant	-	NC_000015.10:g.90749840G>T	1000Genomes,ExAC,gnomAD
rs779348937	p.Phe193Leu	missense variant	-	NC_000015.10:g.90749845T>C	ExAC,TOPMed,gnomAD
RCV000169422	p.Phe193Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90749849_90749850del	ClinVar
RCV000693622	p.Ala196Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749854G>A	ClinVar
rs1346738369	p.Leu198Val	missense variant	-	NC_000015.10:g.90749860C>G	TOPMed
rs1448734613	p.Thr201Ile	missense variant	-	NC_000015.10:g.90749870C>T	TOPMed
rs1448734613	p.Thr201Lys	missense variant	-	NC_000015.10:g.90749870C>A	TOPMed
rs587779894	p.Asn202Asp	missense variant	-	NC_000015.10:g.90749872A>G	-
RCV000115321	p.Asn202Asp	missense variant	-	NC_000015.10:g.90749872A>G	ClinVar
rs1060500633	p.Thr203Ala	missense variant	-	NC_000015.10:g.90749875A>G	TOPMed,gnomAD
RCV000469358	p.Thr203Ala	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749875A>G	ClinVar
RCV000669465	p.Thr203Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90749874_90749875CA[1]	ClinVar
rs1360806507	p.Val204Ile	missense variant	-	NC_000015.10:g.90749878G>A	TOPMed
rs932261711	p.Thr206Asn	missense variant	-	NC_000015.10:g.90749885C>A	gnomAD
rs1555418411	p.Leu208Trp	missense variant	-	NC_000015.10:g.90749891T>G	-
RCV000534140	p.Leu208Trp	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749891T>G	ClinVar
rs1301077071	p.Pro210Ala	missense variant	-	NC_000015.10:g.90749896C>G	gnomAD
rs758478914	p.Pro211Leu	missense variant	-	NC_000015.10:g.90749900C>T	ExAC,gnomAD
rs1434144399	p.Pro211Ala	missense variant	-	NC_000015.10:g.90749899C>G	TOPMed
rs777938065	p.Ser212Phe	missense variant	-	NC_000015.10:g.90749903C>T	NCI-TCGA
RCV000628652	p.Ser212Phe	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749903C>T	ClinVar
rs777938065	p.Ser212Phe	missense variant	-	NC_000015.10:g.90749903C>T	ExAC,TOPMed,gnomAD
rs1230930956	p.Glu214Gly	missense variant	-	NC_000015.10:g.90749909A>G	gnomAD
rs56218710	p.Ser215Arg	missense variant	-	NC_000015.10:g.90749913C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779934502	p.Glu216Lys	missense variant	-	NC_000015.10:g.90749914G>A	ExAC,TOPMed,gnomAD
RCV000527173	p.Glu216Lys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749914G>A	ClinVar
RCV000692452	p.Gln217His	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749919A>C	ClinVar
rs1258361408	p.Gln217His	missense variant	-	NC_000015.10:g.90749919A>T	gnomAD
rs749148385	p.Ile218Val	missense variant	-	NC_000015.10:g.90749920A>G	ExAC,gnomAD
RCV000686276	p.Asp219Glu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749925T>G	ClinVar
rs1246909789	p.Asp219Gly	missense variant	-	NC_000015.10:g.90749924A>G	gnomAD
RCV000628655	p.Asp219Ala	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749924A>C	ClinVar
rs190228320	p.Asp219His	missense variant	-	NC_000015.10:g.90749923G>C	1000Genomes,ExAC,gnomAD
rs1246909789	p.Asp219Ala	missense variant	-	NC_000015.10:g.90749924A>C	gnomAD
rs1447056195	p.Asp219Glu	missense variant	-	NC_000015.10:g.90749925T>G	gnomAD
RCV000411857	p.Thr221Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90749930_90749933del	ClinVar
rs1407804704	p.Thr221Asn	missense variant	-	NC_000015.10:g.90749930C>A	TOPMed
rs774075577	p.Glu222Lys	missense variant	-	NC_000015.10:g.90749932G>A	ExAC,gnomAD
rs761533210	p.Glu223Ter	stop gained	-	NC_000015.10:g.90749935G>T	ExAC,gnomAD
rs770111029	p.Gln224Arg	missense variant	-	NC_000015.10:g.90749939A>G	ExAC,TOPMed,gnomAD
rs770111029	p.Gln224Pro	missense variant	-	NC_000015.10:g.90749939A>C	ExAC,TOPMed,gnomAD
rs918752814	p.Gln224Ter	stop gained	-	NC_000015.10:g.90749938C>T	TOPMed
RCV000471562	p.Gln224Pro	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749939A>C	ClinVar
RCV000229061	p.Gln224Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749939A>G	ClinVar
RCV000537210	p.Asp227Asn	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749947G>A	ClinVar
rs1555418427	p.Asp227Asn	missense variant	-	NC_000015.10:g.90749947G>A	-
RCV000628677	p.Glu229Gln	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749953G>C	ClinVar
rs1255971909	p.Glu229Asp	missense variant	-	NC_000015.10:g.90749955A>C	TOPMed
rs1555418428	p.Glu229Gln	missense variant	-	NC_000015.10:g.90749953G>C	-
COSM434540	p.Glu229Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90749953G>A	NCI-TCGA Cosmic
rs760084762	p.Trp230Arg	missense variant	-	NC_000015.10:g.90749956T>C	ExAC,gnomAD
rs1208103589	p.Ser232Asn	missense variant	-	NC_000015.10:g.90749963G>A	TOPMed
rs201845548	p.Ser232Arg	missense variant	-	NC_000015.10:g.90749964C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser232Cys	missense variant	-	NC_000015.10:g.90749962A>T	NCI-TCGA
RCV000115322	p.Ser232Arg	missense variant	-	NC_000015.10:g.90749964C>A	ClinVar
RCV000326657	p.Ser232Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749964C>A	ClinVar
RCV000573223	p.Asp234Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749968G>A	ClinVar
rs1271054585	p.Asp234Glu	missense variant	-	NC_000015.10:g.90749970T>A	gnomAD
rs878853555	p.Asp234Asn	missense variant	-	NC_000015.10:g.90749968G>A	gnomAD
RCV000231511	p.Asp234Asn	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749968G>A	ClinVar
rs765696829	p.Val235Met	missense variant	-	NC_000015.10:g.90749971G>A	ExAC,gnomAD
rs1303887290	p.Cys237Ser	missense variant	-	NC_000015.10:g.90749978G>C	gnomAD
rs200756519	p.Asp239Asn	missense variant	-	NC_000015.10:g.90749983G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751699247	p.Asp239Gly	missense variant	-	NC_000015.10:g.90749984A>G	ExAC,gnomAD
RCV000234230	p.Asp239Gly	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749984A>G	ClinVar
RCV000540527	p.Asp239His	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749983G>C	ClinVar
RCV000120240	p.Asp239Asn	missense variant	-	NC_000015.10:g.90749983G>A	ClinVar
rs200756519	p.Asp239His	missense variant	-	NC_000015.10:g.90749983G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs757324067	p.Asp240Gly	missense variant	-	NC_000015.10:g.90749987A>G	ExAC,gnomAD
rs200897029	p.Gly241Asp	missense variant	-	NC_000015.10:g.90749990G>A	ExAC,TOPMed,gnomAD
RCV000628619	p.Gly241Asp	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749990G>A	ClinVar
RCV000458587	p.Pro242Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749993C>G	ClinVar
rs768513523	p.Pro242Ser	missense variant	-	NC_000015.10:g.90749992C>T	ExAC,TOPMed,gnomAD
rs1060500642	p.Pro242Arg	missense variant	-	NC_000015.10:g.90749993C>G	gnomAD
rs201722470	p.Ile243Val	missense variant	-	NC_000015.10:g.90749995A>G	ExAC,gnomAD
rs200000438	p.Ile243Thr	missense variant	-	NC_000015.10:g.90749996T>C	ESP,ExAC,TOPMed,gnomAD
RCV000228074	p.Ile243Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749995A>G	ClinVar
rs771809777	p.Ala244Val	missense variant	-	NC_000015.10:g.90749999C>T	ExAC,gnomAD
rs772711706	p.Glu245Lys	missense variant	-	NC_000015.10:g.90750001G>A	ExAC
NCI-TCGA novel	p.Glu245Ter	stop gained	-	NC_000015.10:g.90750001G>T	NCI-TCGA
rs1319055340	p.Ile248Thr	missense variant	-	NC_000015.10:g.90750011T>C	gnomAD
rs558524280	p.Ile248Leu	missense variant	-	NC_000015.10:g.90750010A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs558524280	p.Ile248Val	missense variant	-	NC_000015.10:g.90750010A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1349320132	p.Asn249Asp	missense variant	-	NC_000015.10:g.90750013A>G	gnomAD
RCV000628640	p.Asp251Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90750020A>T	ClinVar
rs1555418456	p.Asp251Val	missense variant	-	NC_000015.10:g.90750020A>T	-
rs181892828	p.Glu254Lys	missense variant	-	NC_000015.10:g.90750028G>A	1000Genomes,ExAC,gnomAD
rs181892828	p.Glu254Gln	missense variant	-	NC_000015.10:g.90750028G>C	1000Genomes,ExAC,gnomAD
RCV000688739	p.Ser255Gly	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90750031A>G	ClinVar
rs765788538	p.Asp256Glu	missense variant	-	NC_000015.10:g.90750036C>A	ExAC,gnomAD
RCV000034918	p.Leu258Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90750036_90750037CT[2]	ClinVar
RCV000526725	p.His261Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90750050A>G	ClinVar
rs763166861	p.His261Arg	missense variant	-	NC_000015.10:g.90750050A>G	-
rs763195731	p.Asp264Asn	missense variant	-	NC_000015.10:g.90750058G>A	ExAC,gnomAD
rs751718191	p.Glu265Ter	stop gained	-	NC_000015.10:g.90750061G>T	ExAC,gnomAD
COSM3817060	p.Glu265Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90750061G>C	NCI-TCGA Cosmic
rs763432949	p.Asn268Ser	missense variant	-	NC_000015.10:g.90751790A>G	ExAC,gnomAD
rs141411463	p.Ser269Gly	missense variant	-	NC_000015.10:g.90751792A>G	ESP,ExAC,gnomAD
RCV000460269	p.Ser269Gly	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90751792A>G	ClinVar
NCI-TCGA novel	p.Ser269Thr	missense variant	-	NC_000015.10:g.90751793G>C	NCI-TCGA
rs762053925	p.Glu270Lys	missense variant	-	NC_000015.10:g.90751795G>A	ExAC,TOPMed,gnomAD
RCV000588275	p.Glu270Lys	missense variant	-	NC_000015.10:g.90751795G>A	ClinVar
RCV000570422	p.Glu270Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90751795G>A	ClinVar
RCV000541320	p.Glu270Lys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90751795G>A	ClinVar
NCI-TCGA novel	p.Lys273Arg	missense variant	-	NC_000015.10:g.90751805A>G	NCI-TCGA
NCI-TCGA novel	p.Lys273Asn	missense variant	-	NC_000015.10:g.90751806G>T	NCI-TCGA
rs750551907	p.Asn274Asp	missense variant	-	NC_000015.10:g.90751807A>G	ExAC,TOPMed,gnomAD
rs750551907	p.Asn274Tyr	missense variant	-	NC_000015.10:g.90751807A>T	ExAC,TOPMed,gnomAD
rs1386158170	p.Leu275Phe	missense variant	-	NC_000015.10:g.90751812G>C	TOPMed,gnomAD
rs1236952637	p.Ala278Thr	missense variant	-	NC_000015.10:g.90751819G>A	TOPMed
RCV000706208	p.Glu279Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90751822G>T	ClinVar
rs1429363042	p.Glu279Ala	missense variant	-	NC_000015.10:g.90751823A>C	gnomAD
RCV000698648	p.Glu279Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90751826_90751875del	ClinVar
COSM471244	p.Glu279Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90751822G>A	NCI-TCGA Cosmic
rs202042636	p.His281Arg	missense variant	-	NC_000015.10:g.90751829A>G	ESP,ExAC,TOPMed,gnomAD
rs202042636	p.His281Pro	missense variant	-	NC_000015.10:g.90751829A>C	ESP,ExAC,TOPMed,gnomAD
RCV000691005	p.His281Gln	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90751830T>G	ClinVar
RCV000529811	p.His281Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90751829A>G	ClinVar
RCV000120242	p.His281Pro	missense variant	-	NC_000015.10:g.90751829A>C	ClinVar
RCV000540157	p.Thr283Ala	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90751834A>G	ClinVar
rs149598003	p.Thr283Ala	missense variant	-	NC_000015.10:g.90751834A>G	ESP,ExAC,TOPMed,gnomAD
RCV000700387	p.Thr283Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90751835C>G	ClinVar
RCV000569169	p.Thr283Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90751834A>G	ClinVar
rs1334137414	p.Lys285Glu	missense variant	-	NC_000015.10:g.90751840A>G	gnomAD
rs758301305	p.Val286Phe	missense variant	-	NC_000015.10:g.90751843G>T	ExAC,gnomAD
rs758301305	p.Val286Ile	missense variant	-	NC_000015.10:g.90751843G>A	ExAC,gnomAD
rs746748670	p.Pro287Ala	missense variant	-	NC_000015.10:g.90751846C>G	ExAC,gnomAD
rs1260150929	p.Cys288Tyr	missense variant	-	NC_000015.10:g.90751850G>A	TOPMed
COSM4057906	p.Asp292Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90751862A>G	NCI-TCGA Cosmic
rs146096923	p.Asp295Asn	missense variant	-	NC_000015.10:g.90751870G>A	ESP,ExAC,TOPMed,gnomAD
rs146096923	p.Asp295Tyr	missense variant	-	NC_000015.10:g.90751870G>T	ESP,ExAC,TOPMed,gnomAD
rs769172522	p.Asp295Gly	missense variant	-	NC_000015.10:g.90751871A>G	ExAC,gnomAD
rs146096923	p.Asp295Tyr	missense variant	-	NC_000015.10:g.90751870G>T	NCI-TCGA
RCV000460689	p.Tyr296Cys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90751874A>G	ClinVar
rs775005766	p.Tyr296Cys	missense variant	-	NC_000015.10:g.90751874A>G	ExAC,gnomAD
rs775005766	p.Tyr296Phe	missense variant	-	NC_000015.10:g.90751874A>T	ExAC,gnomAD
rs1196128608	p.Asp297Tyr	missense variant	-	NC_000015.10:g.90751876G>T	gnomAD
RCV000381515	p.Thr298Met	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90751880C>T	ClinVar
rs28384991	p.Thr298Met	missense variant	-	NC_000015.10:g.90751880C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1418306226	p.Asp299Gly	missense variant	-	NC_000015.10:g.90751883A>G	TOPMed,gnomAD
rs1243827792	p.Asp299Asn	missense variant	-	NC_000015.10:g.90751882G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Phe300Cys	missense variant	-	NC_000015.10:g.90751886T>G	NCI-TCGA
rs1448898003	p.Pro303Leu	missense variant	-	NC_000015.10:g.90751895C>T	gnomAD
NCI-TCGA novel	p.Ser304Tyr	missense variant	-	NC_000015.10:g.90751898C>A	NCI-TCGA
rs773421970	p.Pro305Arg	missense variant	-	NC_000015.10:g.90751901C>G	ExAC,gnomAD
rs766386787	p.Glu307Lys	missense variant	-	NC_000015.10:g.90751906G>A	ExAC,gnomAD
rs1400762946	p.Ile308Asn	missense variant	-	NC_000015.10:g.90751910T>A	gnomAD
NCI-TCGA novel	p.Ser310Cys	missense variant	-	NC_000015.10:g.90751916C>G	NCI-TCGA
NCI-TCGA novel	p.Ser310CysPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.90751915_90751916insG	NCI-TCGA
rs753911420	p.Ala311Ser	missense variant	-	NC_000015.10:g.90751918G>T	ExAC,TOPMed,gnomAD
RCV000572354	p.Ala311Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90751918G>T	ClinVar
RCV000706298	p.Ala311Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90751918G>T	ClinVar
rs372454889	p.Ser312Ala	missense variant	-	NC_000015.10:g.90751921T>G	ESP,ExAC,TOPMed,gnomAD
RCV000543241	p.Ser312Ala	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90751921T>G	ClinVar
rs751438275	p.Ser314Phe	missense variant	-	NC_000015.10:g.90751928C>T	ExAC,gnomAD
RCV000674509	p.Ser315Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90751929del	ClinVar
RCV000708673	p.Leu319Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90751942C>T	ClinVar
rs757112333	p.Ser320Thr	missense variant	-	NC_000015.10:g.90751946G>C	ExAC,TOPMed,gnomAD
rs755724766	p.Thr321Met	missense variant	-	NC_000015.10:g.90754813C>T	ExAC,gnomAD
RCV000120244	p.Lys323Arg	missense variant	-	NC_000015.10:g.90754819A>G	ClinVar
rs146504061	p.Lys323Arg	missense variant	-	NC_000015.10:g.90754819A>G	ESP,ExAC,TOPMed,gnomAD
rs769094708	p.Asp324Glu	missense variant	-	NC_000015.10:g.90754823C>A	ExAC,TOPMed,gnomAD
rs1013220474	p.Asp326Asn	missense variant	-	NC_000015.10:g.90754827G>A	TOPMed
rs748581308	p.Thr327Ser	missense variant	-	NC_000015.10:g.90754831C>G	ExAC,gnomAD
rs748581308	p.Thr327Asn	missense variant	-	NC_000015.10:g.90754831C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser328Cys	missense variant	-	NC_000015.10:g.90754834C>G	NCI-TCGA
rs1033769525	p.Arg330Ser	missense variant	-	NC_000015.10:g.90754841A>C	TOPMed,gnomAD
RCV000690690	p.Lys331Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90754843A>C	ClinVar
RCV000169224	p.Lys331Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90754842_90754846del	ClinVar
rs1351404875	p.Lys331Thr	missense variant	-	NC_000015.10:g.90754843A>C	TOPMed,gnomAD
rs772415449	p.Asp333Gly	missense variant	-	NC_000015.10:g.90754849A>G	ExAC,gnomAD
COSM966529	p.Val334Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90754851G>A	NCI-TCGA Cosmic
rs1057517359	p.LeuSer335LeuThrTerUnk	stop gained	-	NC_000015.10:g.90754854_90754857dup	-
rs1265514490	p.Leu335Val	missense variant	-	NC_000015.10:g.90754854C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Leu335Phe	missense variant	-	NC_000015.10:g.90754854C>T	NCI-TCGA
RCV000704784	p.Ser336Gly	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90754857A>G	ClinVar
RCV000410940	p.Ser336ThrTer	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90754854_90754857dup	ClinVar
rs1176242752	p.Thr337Ile	missense variant	-	NC_000015.10:g.90754861C>T	TOPMed
COSM966531	p.Asp340Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90754869G>T	NCI-TCGA Cosmic
rs759626611	p.Ser343Leu	missense variant	-	NC_000015.10:g.90754879C>T	ExAC,gnomAD
rs776620199	p.Ser343Ala	missense variant	-	NC_000015.10:g.90754878T>G	ExAC,gnomAD
RCV000556843	p.Ser343Ala	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90754878T>G	ClinVar
rs148701303	p.Lys344Asn	missense variant	-	NC_000015.10:g.90754883A>T	ESP,ExAC,TOPMed,gnomAD
rs1162333482	p.Glu346Ter	stop gained	-	NC_000015.10:g.90754887G>T	gnomAD
rs375250788	p.Lys347Glu	missense variant	-	NC_000015.10:g.90754890A>G	ESP,TOPMed
rs1363297446	p.Met348Val	missense variant	-	NC_000015.10:g.90754893A>G	NCI-TCGA
RCV000709358	p.Met348Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90754894dup	ClinVar
RCV000461960	p.Met348Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90754895G>A	ClinVar
rs184657475	p.Met348Ile	missense variant	-	NC_000015.10:g.90754895G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1363297446	p.Met348Val	missense variant	-	NC_000015.10:g.90754893A>G	gnomAD
rs184657475	p.Met348Ile	missense variant	-	NC_000015.10:g.90754895G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs761783430	p.Ser349Asn	missense variant	-	NC_000015.10:g.90754897G>A	ExAC,gnomAD
rs745469404	p.Met350Ile	missense variant	-	NC_000015.10:g.90754901G>A	gnomAD
rs745469404	p.Met350Ile	missense variant	-	NC_000015.10:g.90754901G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1389607101	p.Gln351Arg	missense variant	-	NC_000015.10:g.90754903A>G	TOPMed,gnomAD
rs767423456	p.Glu352Gly	missense variant	-	NC_000015.10:g.90754906A>G	ExAC,gnomAD
rs369583279	p.Glu352Lys	missense variant	-	NC_000015.10:g.90754905G>A	ESP
RCV000535187	p.Pro355Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90754915C>G	ClinVar
rs1022898915	p.Pro355Arg	missense variant	-	NC_000015.10:g.90754915C>G	TOPMed
rs1555419001	p.Thr357Ile	missense variant	-	NC_000015.10:g.90754921C>T	-
RCV000674782	p.Thr357Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90754921C>T	ClinVar
rs750203166	p.Ser358Asn	missense variant	-	NC_000015.10:g.90754924G>A	ExAC,gnomAD
rs1336484885	p.Ser358Arg	missense variant	-	NC_000015.10:g.90754923A>C	gnomAD
rs1332024999	p.Thr359Pro	missense variant	-	NC_000015.10:g.90754926A>C	gnomAD
RCV000412101	p.Cys361Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90754932_90754933TG[1]	ClinVar
rs1057517030	p.CysAsp361Ter	stop gained	-	NC_000015.10:g.90754934_90754935del	gnomAD
rs200364297	p.Ala363Thr	missense variant	-	NC_000015.10:g.90754938G>A	ESP,ExAC,TOPMed,gnomAD
RCV000685874	p.Ala363Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760147C>T	ClinVar
RCV000549947	p.Ala363Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90754938G>A	ClinVar
rs1374291628	p.Arg364Lys	missense variant	-	NC_000015.10:g.90760150G>A	TOPMed
RCV000779836	p.Arg364Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90760149A>T	ClinVar
RCV000687553	p.Arg364Lys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760150G>A	ClinVar
rs552913880	p.Ile366Leu	missense variant	-	NC_000015.10:g.90760155A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs552913880	p.Ile366Val	missense variant	-	NC_000015.10:g.90760155A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs571152089	p.Ile366Thr	missense variant	-	NC_000015.10:g.90760156T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000477302	p.Ile366Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760156T>C	ClinVar
RCV000115278	p.Ile366Thr	missense variant	-	NC_000015.10:g.90760156T>C	ClinVar
RCV000628658	p.Ile366Leu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760155A>C	ClinVar
RCV000574582	p.Ile366Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760156T>C	ClinVar
rs772176483	p.Ser367Asn	missense variant	-	NC_000015.10:g.90760159G>A	ExAC,gnomAD
RCV000571670	p.Ser367Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760159G>A	ClinVar
rs1049658021	p.Gln369Glu	missense variant	-	NC_000015.10:g.90760164C>G	TOPMed
rs773198283	p.Gln370Pro	missense variant	-	NC_000015.10:g.90760168A>C	ExAC,gnomAD
rs1480729955	p.Leu372Val	missense variant	-	NC_000015.10:g.90760173C>G	gnomAD
rs1060500630	p.Ile373Asn	missense variant	-	NC_000015.10:g.90760177T>A	-
RCV000464575	p.Ile373Asn	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760177T>A	ClinVar
rs766212032	p.Ile373Val	missense variant	-	NC_000015.10:g.90760176A>G	ExAC,TOPMed,gnomAD
RCV000664785	p.Ile373Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760173del	ClinVar
RCV000628642	p.His374Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760180A>G	ClinVar
rs776225502	p.His374Arg	missense variant	-	NC_000015.10:g.90760180A>G	ExAC,TOPMed,gnomAD
RCV000528231	p.Glu377Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760188del	ClinVar
NCI-TCGA novel	p.Glu377Gln	missense variant	-	NC_000015.10:g.90760188G>C	NCI-TCGA
RCV000548596	p.His378Tyr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760191_90760193delinsTAT	ClinVar
rs752240971	p.His378Tyr	missense variant	-	NC_000015.10:g.90760191C>T	ExAC,TOPMed,gnomAD
rs1555419713	p.His378Tyr	missense variant	-	NC_000015.10:g.90760191_90760193delinsTAT	-
rs1408233877	p.Ile379Ser	missense variant	-	NC_000015.10:g.90760195T>G	TOPMed
rs1178783782	p.Ile379Met	missense variant	-	NC_000015.10:g.90760196C>G	TOPMed
rs556577644	p.Ile383Thr	missense variant	-	NC_000015.10:g.90760207T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000668935	p.Asp384Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760210del	ClinVar
rs202009716	p.Thr385Asn	missense variant	-	NC_000015.10:g.90760213C>A	1000Genomes,ExAC,gnomAD
rs757636363	p.Ile386Val	missense variant	-	NC_000015.10:g.90760215A>G	ExAC,TOPMed,gnomAD
rs781643015	p.Pro387Leu	missense variant	-	NC_000015.10:g.90760219C>T	ExAC,gnomAD
rs1555419732	p.Asp389Gly	missense variant	-	NC_000015.10:g.90760225A>G	-
RCV000628612	p.Asp389Gly	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760225A>G	ClinVar
rs746170218	p.Asp389His	missense variant	-	NC_000015.10:g.90760224G>C	ExAC,gnomAD
rs538728271	p.Glu399Lys	missense variant	-	NC_000015.10:g.90760254G>A	ExAC,gnomAD
RCV000628690	p.Glu399Lys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760254G>A	ClinVar
RCV000565340	p.Glu399Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760254G>A	ClinVar
RCV000539301	p.Leu401Phe	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760260C>T	ClinVar
rs151150267	p.Leu401Phe	missense variant	-	NC_000015.10:g.90760260C>T	ESP,ExAC,gnomAD
rs1317810142	p.Gln402Leu	missense variant	-	NC_000015.10:g.90760264A>T	TOPMed
rs1555419741	p.Gln403His	missense variant	-	NC_000015.10:g.90760268G>C	-
rs375342874	p.Gln403Arg	missense variant	-	NC_000015.10:g.90760267A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln403Ter	stop gained	-	NC_000015.10:g.90760266C>T	NCI-TCGA
RCV000562284	p.Gln403His	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760268G>C	ClinVar
rs770721765	p.Arg404Trp	missense variant	-	NC_000015.10:g.90760269C>T	ExAC,gnomAD
rs776516663	p.Arg404Gln	missense variant	-	NC_000015.10:g.90760270G>A	ExAC,TOPMed,gnomAD
RCV000563361	p.Arg404Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760270G>A	ClinVar
RCV000670863	p.Arg404Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760269del	ClinVar
RCV000554002	p.Arg404Trp	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760269C>T	ClinVar
RCV000532308	p.Arg404Gln	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760270G>A	ClinVar
NCI-TCGA novel	p.Asn405Ser	missense variant	-	NC_000015.10:g.90760273A>G	NCI-TCGA
rs769498398	p.Ile406Val	missense variant	-	NC_000015.10:g.90760275A>G	ExAC,gnomAD
rs1350192744	p.Arg407Ile	missense variant	-	NC_000015.10:g.90760279G>T	TOPMed
RCV000628688	p.Arg408Lys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760596G>A	ClinVar
rs1338335954	p.Arg408Lys	missense variant	-	NC_000015.10:g.90760596G>A	gnomAD
rs200688933	p.Leu410Phe	missense variant	-	NC_000015.10:g.90760601C>T	1000Genomes,ExAC,gnomAD
rs200688933	p.Leu410Val	missense variant	-	NC_000015.10:g.90760601C>G	1000Genomes,ExAC,gnomAD
RCV000702571	p.Leu411Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760604C>G	ClinVar
RCV000462668	p.Thr412Met	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760608C>T	ClinVar
rs775209685	p.Thr412Met	missense variant	-	NC_000015.10:g.90760608C>T	ExAC,TOPMed,gnomAD
rs1215111361	p.Glu413Val	missense variant	-	NC_000015.10:g.90760611A>T	gnomAD
RCV000530944	p.Glu413Lys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760610G>A	ClinVar
rs887921909	p.Glu413Lys	missense variant	-	NC_000015.10:g.90760610G>A	TOPMed,gnomAD
rs773952896	p.Asp420Gly	missense variant	-	NC_000015.10:g.90760632A>G	ExAC,gnomAD
rs773952896	p.Asp420Val	missense variant	-	NC_000015.10:g.90760632A>T	ExAC,gnomAD
rs587779879	p.Ala421Thr	missense variant	-	NC_000015.10:g.90760634G>A	ExAC,TOPMed,gnomAD
rs587779879	p.Ala421Ser	missense variant	-	NC_000015.10:g.90760634G>T	ExAC,TOPMed,gnomAD
RCV000115280	p.Ala421Thr	missense variant	-	NC_000015.10:g.90760634G>A	ClinVar
rs1244225539	p.Gly425Val	missense variant	-	NC_000015.10:g.90760647G>T	gnomAD
rs768127491	p.Ser426Leu	missense variant	-	NC_000015.10:g.90760650C>T	ExAC,gnomAD
rs750960910	p.Leu427Trp	missense variant	-	NC_000015.10:g.90760653T>G	ExAC,gnomAD
RCV000410691	p.Trp428Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90760657G>A	ClinVar
rs1057516964	p.Trp428Ter	stop gained	-	NC_000015.10:g.90760657G>A	-
rs761195071	p.Arg429Lys	missense variant	-	NC_000015.10:g.90760659G>A	ExAC
rs749512704	p.Tyr430Ter	stop gained	-	NC_000015.10:g.90760662_90760663insAT	ExAC,gnomAD
rs1314473930	p.Tyr430His	missense variant	-	NC_000015.10:g.90760661T>C	gnomAD
rs757530461	p.ArgPro431ArgProProTerGlyUnk	stop gained	-	NC_000015.10:g.90760669_90760670insCCATAGGGCCT	ExAC,gnomAD
NCI-TCGA novel	p.Arg431Lys	missense variant	-	NC_000015.10:g.90760665G>A	NCI-TCGA
RCV000560371	p.Pro432Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760668dup	ClinVar
rs371682827	p.Pro432Ser	missense variant	-	NC_000015.10:g.90760667C>T	ESP,TOPMed
NCI-TCGA novel	p.Asp433His	missense variant	-	NC_000015.10:g.90760670G>C	NCI-TCGA
RCV000671593	p.Ser434Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90760674C>G	ClinVar
rs754203833	p.Ser434Ter	stop gained	-	NC_000015.10:g.90760674C>G	ExAC
rs1315734510	p.Leu435Pro	missense variant	-	NC_000015.10:g.90760677T>C	gnomAD
rs755256088	p.Leu435Phe	missense variant	-	NC_000015.10:g.90760676C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly437Val	missense variant	-	NC_000015.10:g.90760683G>T	NCI-TCGA
rs752884341	p.Pro438Ser	missense variant	-	NC_000015.10:g.90760685C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro438His	missense variant	-	NC_000015.10:g.90760686C>A	NCI-TCGA
rs201231857	p.Met439Val	missense variant	-	NC_000015.10:g.90760688A>G	ESP,ExAC,TOPMed,gnomAD
rs1450277471	p.Met439Ile	missense variant	-	NC_000015.10:g.90760690G>T	TOPMed
RCV000574443	p.Met439Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760688A>G	ClinVar
RCV000670355	p.Met439Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760689del	ClinVar
rs777845306	p.Glu440Lys	missense variant	-	NC_000015.10:g.90760691G>A	ExAC,gnomAD
RCV000686664	p.Glu440Gly	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760692A>G	ClinVar
RCV000628632	p.Cys444Phe	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760704G>T	ClinVar
rs745820610	p.Cys444Ser	missense variant	-	NC_000015.10:g.90760703T>A	ExAC,gnomAD
rs1555419834	p.Cys444Phe	missense variant	-	NC_000015.10:g.90760704G>T	-
RCV000690956	p.Thr446Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760709A>T	ClinVar
rs1447973805	p.Thr446Lys	missense variant	-	NC_000015.10:g.90760710C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly447Arg	missense variant	-	NC_000015.10:g.90760712G>A	NCI-TCGA
rs755998510	p.Asn448Asp	missense variant	-	NC_000015.10:g.90760715A>G	ExAC,gnomAD
rs1196726372	p.Asn448Thr	missense variant	-	NC_000015.10:g.90760716A>C	TOPMed
RCV000628620	p.Ser449Cys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760719C>G	ClinVar
rs967698170	p.Ser449Cys	missense variant	-	NC_000015.10:g.90760719C>G	-
NCI-TCGA novel	p.Ser449Tyr	missense variant	-	NC_000015.10:g.90760719C>A	NCI-TCGA
rs200385935	p.Met450Val	missense variant	-	NC_000015.10:g.90760721A>G	ExAC,TOPMed,gnomAD
RCV000115282	p.Met450Val	missense variant	-	NC_000015.10:g.90760721A>G	ClinVar
rs749051692	p.Lys451Thr	missense variant	-	NC_000015.10:g.90760725A>C	ExAC,gnomAD
rs768403689	p.Glu452Lys	missense variant	-	NC_000015.10:g.90760727G>A	ExAC
RCV000544365	p.Leu453Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90760731T>G	ClinVar
rs730881428	p.Leu453Ter	stop gained	-	NC_000015.10:g.90760731T>G	-
rs1156488243	p.Asn454Lys	missense variant	-	NC_000015.10:g.90760735T>G	gnomAD
rs1225553532	p.His457Gln	missense variant	-	NC_000015.10:g.90760744C>A	TOPMed
rs1386680498	p.Leu458Phe	missense variant	-	NC_000015.10:g.90760745C>T	gnomAD
rs1302320494	p.Pro459Leu	missense variant	-	NC_000015.10:g.90760749C>T	gnomAD
rs1216457741	p.Asn461Asp	missense variant	-	NC_000015.10:g.90760754A>G	gnomAD
NCI-TCGA novel	p.Ser462Tyr	missense variant	-	NC_000015.10:g.90760758C>A	NCI-TCGA
RCV000159830	p.Ser462Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760758del	ClinVar
rs1028963834	p.Val463Ile	missense variant	-	NC_000015.10:g.90760760G>A	TOPMed
rs1555419857	p.Val463Gly	missense variant	-	NC_000015.10:g.90760761T>G	-
RCV000628638	p.Val463Gly	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760761T>G	ClinVar
rs1303724070	p.Ser464Phe	missense variant	-	NC_000015.10:g.90760764C>T	TOPMed
rs561545349	p.Pro465Leu	missense variant	-	NC_000015.10:g.90760767C>T	1000Genomes,ExAC,gnomAD
RCV000687149	p.Gly466Glu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760770G>A	ClinVar
rs747760482	p.Gly466Arg	missense variant	-	NC_000015.10:g.90760769G>A	ExAC,gnomAD
RCV000666095	p.Asp467Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760772dup	ClinVar
rs1281556342	p.Thr471Ile	missense variant	-	NC_000015.10:g.90760785C>T	gnomAD
rs368967327	p.Thr472Asn	missense variant	-	NC_000015.10:g.90760788C>A	ESP,ExAC,TOPMed,gnomAD
rs761284618	p.Thr473Ile	missense variant	-	NC_000015.10:g.90760791C>T	ExAC,TOPMed,gnomAD
RCV000668814	p.Thr477Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760802_90760805del	ClinVar
RCV000699198	p.Thr477Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760803C>T	ClinVar
RCV000628678	p.Gly478Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760805G>C	ClinVar
rs759810567	p.Gly478Ala	missense variant	-	NC_000015.10:g.90760806G>C	ExAC,TOPMed,gnomAD
rs1490929990	p.Gly478Arg	missense variant	-	NC_000015.10:g.90760805G>C	TOPMed,gnomAD
rs1490929990	p.Gly478Arg	missense variant	-	NC_000015.10:g.90760805G>A	TOPMed,gnomAD
RCV000537347	p.Gly478Ala	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760806G>C	ClinVar
RCV000566609	p.Gly478Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760806G>C	ClinVar
RCV000689409	p.Phe479Leu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760810C>G	ClinVar
rs1250395176	p.Phe479Leu	missense variant	-	NC_000015.10:g.90760808T>C	gnomAD
rs1418071613	p.Phe479Cys	missense variant	-	NC_000015.10:g.90760809T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Phe479Leu	missense variant	-	NC_000015.10:g.90760810C>A	NCI-TCGA
RCV000542996	p.Phe479Cys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760809T>G	ClinVar
RCV000567157	p.Ser480Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760811T>C	ClinVar
rs1555419877	p.Ser480Pro	missense variant	-	NC_000015.10:g.90760811T>C	-
rs1179030077	p.Thr482Ala	missense variant	-	NC_000015.10:g.90760817A>G	gnomAD
NCI-TCGA novel	p.Lys484Asn	missense variant	-	NC_000015.10:g.90760825G>T	NCI-TCGA
rs765565919	p.Phe487Leu	missense variant	-	NC_000015.10:g.90760832T>C	ExAC,TOPMed,gnomAD
rs765565919	p.Phe487Val	missense variant	-	NC_000015.10:g.90760832T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe487Cys	missense variant	-	NC_000015.10:g.90760833T>G	NCI-TCGA
RCV000700601	p.Glu488Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90760835G>T	ClinVar
RCV000557690	p.Glu488Lys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760835G>A	ClinVar
rs1477193473	p.Glu488Lys	missense variant	-	NC_000015.10:g.90760835G>A	TOPMed
COSM458932	p.Glu488Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90760835G>C	NCI-TCGA Cosmic
rs752869722	p.Arg489Gly	missense variant	-	NC_000015.10:g.90760838A>G	ExAC,gnomAD
RCV000706973	p.Pro490Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760841C>T	ClinVar
RCV000232143	p.Pro490Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760842C>G	ClinVar
rs878853553	p.Pro490Arg	missense variant	-	NC_000015.10:g.90760842C>G	-
RCV000628667	p.Phe492Leu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760847T>C	ClinVar
rs764182382	p.Phe492Leu	missense variant	-	NC_000015.10:g.90760847T>C	ExAC,TOPMed,gnomAD
COSM4057907	p.Asn493Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90760851A>G	NCI-TCGA Cosmic
rs751600686	p.Thr494Ile	missense variant	-	NC_000015.10:g.90760854C>T	ExAC,gnomAD
rs751600686	p.Thr494Asn	missense variant	-	NC_000015.10:g.90760854C>A	ExAC,gnomAD
RCV000535993	p.Thr494Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760854C>T	ClinVar
RCV000409376	p.Thr494Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760852_90760853del	ClinVar
rs368547042	p.Gln497Arg	missense variant	-	NC_000015.10:g.90760863A>G	ExAC,TOPMed,gnomAD
rs368547042	p.Gln497Pro	missense variant	-	NC_000015.10:g.90760863A>C	ExAC,TOPMed,gnomAD
RCV000550747	p.Gln497Pro	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760863A>C	ClinVar
rs749164590	p.Lys498Arg	missense variant	-	NC_000015.10:g.90760866A>G	ExAC,gnomAD
rs371965329	p.Ser499Thr	missense variant	-	NC_000015.10:g.90760868T>A	ESP,ExAC,TOPMed,gnomAD
rs778700833	p.Ser499Phe	missense variant	-	NC_000015.10:g.90760869C>T	ExAC,TOPMed,gnomAD
RCV000226684	p.Ser499Phe	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760869C>T	ClinVar
RCV000526747	p.Ser499Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760868T>A	ClinVar
RCV000574589	p.Phe500Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760873del	ClinVar
rs1247170438	p.Val501Glu	missense variant	-	NC_000015.10:g.90760875T>A	gnomAD
rs908599703	p.Ser502Thr	missense variant	-	NC_000015.10:g.90760878G>C	TOPMed
RCV000536857	p.Ser502Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760878G>C	ClinVar
rs908599703	p.Ser502Asn	missense variant	-	NC_000015.10:g.90760878G>A	TOPMed
rs771703657	p.Ser502Arg	missense variant	-	NC_000015.10:g.90760877A>C	ExAC,gnomAD
rs1352036324	p.Ser503Asn	missense variant	-	NC_000015.10:g.90760881G>A	TOPMed
RCV000628626	p.Trp505Cys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760888G>T	ClinVar
rs1286401716	p.Trp505Ter	stop gained	-	NC_000015.10:g.90760888G>A	TOPMed
rs1286401716	p.Trp505Cys	missense variant	-	NC_000015.10:g.90760888G>T	TOPMed
rs772877648	p.Trp505Arg	missense variant	-	NC_000015.10:g.90760886T>C	ExAC,gnomAD
RCV000574215	p.Glu507Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760892G>A	ClinVar
rs192491153	p.Glu507Lys	missense variant	-	NC_000015.10:g.90760892G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs771610207	p.Pro509Thr	missense variant	-	NC_000015.10:g.90760898C>A	ExAC,gnomAD
rs1457782246	p.Pro509Gln	missense variant	-	NC_000015.10:g.90760899C>A	gnomAD
rs1182650678	p.Arg510Lys	missense variant	-	NC_000015.10:g.90760902G>A	gnomAD
rs1382968714	p.Leu511Ile	missense variant	-	NC_000015.10:g.90760904C>A	gnomAD
rs1446287900	p.Leu511Gln	missense variant	-	NC_000015.10:g.90760905T>A	gnomAD
rs1165197763	p.Gly512Arg	missense variant	-	NC_000015.10:g.90760907G>A	gnomAD
rs1412833703	p.Lys513Ter	stop gained	-	NC_000015.10:g.90760910A>T	TOPMed
rs550463714	p.Lys514Arg	missense variant	-	NC_000015.10:g.90760914A>G	ExAC,gnomAD
rs772495493	p.Asn515MetPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.90760909A>-	NCI-TCGA,NCI-TCGA Cosmic
RCV000415444	p.Asn515Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760917del	ClinVar
rs765536045	p.Asn515Thr	missense variant	-	NC_000015.10:g.90760917A>C	ExAC,TOPMed,gnomAD
RCV000034890	p.Asn515Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760917dup	ClinVar
rs1159306009	p.Glu516Gly	missense variant	-	NC_000015.10:g.90760920A>G	TOPMed
RCV000668337	p.Ser517Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760922dup	ClinVar
NCI-TCGA novel	p.Ser518Cys	missense variant	-	NC_000015.10:g.90760926C>G	NCI-TCGA
RCV000708665	p.Tyr519Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760929A>G	ClinVar
rs1410283592	p.Phe520Ser	missense variant	-	NC_000015.10:g.90760932T>C	-
RCV000686503	p.Phe520Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760932T>C	ClinVar
rs1473790026	p.Pro521Leu	missense variant	-	NC_000015.10:g.90760935C>T	TOPMed
rs1451973495	p.Pro521Ser	missense variant	-	NC_000015.10:g.90760934C>T	gnomAD
RCV000703283	p.Asn523Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760941A>T	ClinVar
rs1385248707	p.Asn523Ile	missense variant	-	NC_000015.10:g.90760941A>T	TOPMed,gnomAD
rs764271899	p.Leu525Arg	missense variant	-	NC_000015.10:g.90760947T>G	ExAC,gnomAD
rs764271899	p.Leu525Pro	missense variant	-	NC_000015.10:g.90760947T>C	ExAC,gnomAD
rs757315907	p.Thr526Ala	missense variant	-	NC_000015.10:g.90760949A>G	ExAC,TOPMed,gnomAD
rs1239709333	p.Lys531Asn	missense variant	-	NC_000015.10:g.90760966A>T	TOPMed
rs753723424	p.Asp532Asn	missense variant	-	NC_000015.10:g.90760967G>A	ExAC,gnomAD
RCV000465434	p.Asn534Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760974A>G	ClinVar
rs35224686	p.Asn534Ser	missense variant	-	NC_000015.10:g.90760974A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM471245	p.Lys535Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90760976A>C	NCI-TCGA Cosmic
RCV000540055	p.Thr537Asn	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760983C>A	ClinVar
rs1555419928	p.Thr537Asn	missense variant	-	NC_000015.10:g.90760983C>A	-
rs1318049766	p.Ala538Pro	missense variant	-	NC_000015.10:g.90760985G>C	gnomAD
RCV000472437	p.Ala538Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760986C>T	ClinVar
rs778593808	p.Ala538Asp	missense variant	-	NC_000015.10:g.90760986C>A	ExAC,TOPMed,gnomAD
rs778593808	p.Ala538Val	missense variant	-	NC_000015.10:g.90760986C>T	ExAC,TOPMed,gnomAD
rs1060500641	p.Ile540Val	missense variant	-	NC_000015.10:g.90760991A>G	-
RCV000463091	p.Ile540Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760991A>G	ClinVar
rs1240946873	p.Asn541Ser	missense variant	-	NC_000015.10:g.90760995A>G	gnomAD
rs1555419932	p.Asp542Tyr	missense variant	-	NC_000015.10:g.90760997G>T	-
RCV000674920	p.Asp542Tyr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760997G>T	ClinVar
RCV000693981	p.Glu544Gly	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761004A>G	ClinVar
rs752494229	p.Glu544Lys	missense variant	-	NC_000015.10:g.90761003G>A	ExAC,gnomAD
rs1260807193	p.Arg545Ser	missense variant	-	NC_000015.10:g.90761008A>C	gnomAD
NCI-TCGA novel	p.Glu546Gln	missense variant	-	NC_000015.10:g.90761009G>C	NCI-TCGA
rs758161226	p.Thr547Ile	missense variant	-	NC_000015.10:g.90761013C>T	ExAC,gnomAD
RCV000472965	p.Thr547Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761013C>T	ClinVar
rs1426499355	p.Thr547Ala	missense variant	-	NC_000015.10:g.90761012A>G	gnomAD
RCV000144577	p.Gln548Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90761015C>T	ClinVar
rs200389141	p.Gln548Ter	stop gained	-	NC_000015.10:g.90761015C>T	ESP,ExAC,TOPMed,gnomAD
rs746571244	p.Tyr551Cys	missense variant	-	NC_000015.10:g.90761025A>G	ExAC,gnomAD
RCV000462089	p.Tyr551Cys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761025A>G	ClinVar
rs1266070433	p.Asp554Val	missense variant	-	NC_000015.10:g.90761034A>T	TOPMed
rs1469407831	p.Ile558Thr	missense variant	-	NC_000015.10:g.90761046T>C	gnomAD
rs780794194	p.Asp559Glu	missense variant	-	NC_000015.10:g.90761050T>A	ExAC,gnomAD
rs746386524	p.Asp560His	missense variant	-	NC_000015.10:g.90761051G>C	ExAC,gnomAD
rs1288457938	p.Asp563Val	missense variant	-	NC_000015.10:g.90761061A>T	gnomAD
RCV000700932	p.Asp563Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761061A>T	ClinVar
rs1555419944	p.Asp564Gly	missense variant	-	NC_000015.10:g.90761064A>G	-
RCV000628627	p.Asp564Gly	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761064A>G	ClinVar
COSM434542	p.Asp565Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90761066G>A	NCI-TCGA Cosmic
rs1356090839	p.Trp567Ter	stop gained	-	NC_000015.10:g.90761074G>A	TOPMed
rs1360373872	p.Glu568Gln	missense variant	-	NC_000015.10:g.90761075G>C	TOPMed,gnomAD
rs775758928	p.Ile570Val	missense variant	-	NC_000015.10:g.90761081A>G	ExAC,gnomAD
rs775758928	p.Ile570Leu	missense variant	-	NC_000015.10:g.90761081A>T	ExAC,gnomAD
RCV000120248	p.Met571Thr	missense variant	-	NC_000015.10:g.90761085T>C	ClinVar
rs763355238	p.His572Arg	missense variant	-	NC_000015.10:g.90761088A>G	ExAC,gnomAD
rs763355238	p.His572Pro	missense variant	-	NC_000015.10:g.90761088A>C	ExAC,gnomAD
rs1445931282	p.His572Tyr	missense variant	-	NC_000015.10:g.90761087C>T	TOPMed
rs587778107	p.LeuAla574PheLys	missense variant	-	NC_000015.10:g.90761095_90761097delinsTAA	-
RCV000120245	p.Leu574PheLys	missense variant	-	NC_000015.10:g.90761095_90761097delinsTAA	ClinVar
RCV000411275	p.Ala575Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90761093_90761108del	ClinVar
rs774551420	p.Ala575Val	missense variant	-	NC_000015.10:g.90761097C>T	ExAC,gnomAD
RCV000409598	p.Ala576Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90761095_90761098delinsGGC	ClinVar
rs761955701	p.Ser577Arg	missense variant	-	NC_000015.10:g.90761102A>C	ExAC,TOPMed,gnomAD
rs761955701	p.Ser577Gly	missense variant	-	NC_000015.10:g.90761102A>G	ExAC,TOPMed,gnomAD
RCV000705217	p.Ser577Asn	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761103G>A	ClinVar
RCV000412340	p.Thr581Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90761113del	ClinVar
rs587778108	p.Thr581Ala	missense variant	-	NC_000015.10:g.90761114A>G	ExAC,TOPMed,gnomAD
RCV000689681	p.Thr581Ala	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761114A>G	ClinVar
rs1043484811	p.Ala583Ser	missense variant	-	NC_000015.10:g.90761120G>T	TOPMed
rs765187809	p.Tyr584Cys	missense variant	-	NC_000015.10:g.90761124A>G	ExAC,gnomAD
RCV000671163	p.Gln585Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90761125del	ClinVar
rs752479366	p.Gln585Arg	missense variant	-	NC_000015.10:g.90761127A>G	ExAC,gnomAD
RCV000410100	p.Lys588Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90761137_90761150del	ClinVar
COSM434543	p.Glu589Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.90761138G>T	NCI-TCGA Cosmic
rs758250947	p.Gly590Ala	missense variant	-	NC_000015.10:g.90761142G>C	ExAC,gnomAD
rs777647725	p.Arg591Gly	missense variant	-	NC_000015.10:g.90761144C>G	ExAC,TOPMed,gnomAD
rs777647725	p.Arg591Trp	missense variant	-	NC_000015.10:g.90761144C>T	ExAC,TOPMed,gnomAD
rs28385012	p.Arg591Gln	missense variant	-	NC_000015.10:g.90761145G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1197143678	p.Pro592Ser	missense variant	-	NC_000015.10:g.90761147C>T	gnomAD
rs138943954	p.Ser595Leu	missense variant	-	NC_000015.10:g.90761157C>T	ESP,ExAC,TOPMed,gnomAD
rs138943954	p.Ser595Ter	stop gained	-	NC_000015.10:g.90761157C>A	ESP,ExAC,TOPMed,gnomAD
RCV000411246	p.Arg599Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90761168del	ClinVar
rs1466022684	p.Leu600Phe	missense variant	-	NC_000015.10:g.90761171C>T	TOPMed
RCV000705396	p.Ala603Gly	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761181C>G	ClinVar
RCV000668805	p.Asp606Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90761190_90761193del	ClinVar
rs1343649830	p.Asp606Glu	missense variant	-	NC_000015.10:g.90761191C>G	TOPMed,gnomAD
rs1207886252	p.Cys607Trp	missense variant	-	NC_000015.10:g.90761194T>G	TOPMed
rs770255643	p.Pro609Thr	missense variant	-	NC_000015.10:g.90761198C>A	ExAC,TOPMed,gnomAD
RCV000553465	p.Pro609Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761198C>A	ClinVar
rs550417200	p.Thr613Ile	missense variant	-	NC_000015.10:g.90761211C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1285727934	p.Ala614Val	missense variant	-	NC_000015.10:g.90761214C>T	TOPMed,gnomAD
rs1219301379	p.Ile617Leu	missense variant	-	NC_000015.10:g.90761222A>T	gnomAD
NCI-TCGA novel	p.Ile617TyrPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.90761221_90761222insTATCAATATC	NCI-TCGA
rs868510206	p.Ile617Thr	missense variant	-	NC_000015.10:g.90761223T>C	-
RCV000628628	p.Ile617Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761223T>C	ClinVar
rs371519654	p.Asn618Lys	missense variant	-	NC_000015.10:g.90761227C>A	ESP,ExAC,TOPMed,gnomAD
rs1218260888	p.Phe619Leu	missense variant	-	NC_000015.10:g.90761230C>G	gnomAD
rs1314782111	p.Phe619Cys	missense variant	-	NC_000015.10:g.90761229T>G	gnomAD
rs374965438	p.Glu621Asp	missense variant	-	NC_000015.10:g.90761236G>C	ESP,gnomAD
RCV000628689	p.Glu621Asp	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761236G>C	ClinVar
rs1033751385	p.Ser622Pro	missense variant	-	NC_000015.10:g.90761237T>C	TOPMed,gnomAD
RCV000703064	p.Ile623Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761241T>C	ClinVar
rs774639456	p.Gln624Ter	stop gained	-	NC_000015.10:g.90761243C>T	ExAC,gnomAD
rs1248352364	p.Asn625Asp	missense variant	-	NC_000015.10:g.90761246A>G	gnomAD
rs1176677177	p.Tyr626Ter	stop gained	-	NC_000015.10:g.90761251T>G	TOPMed,gnomAD
rs374569385	p.Tyr626Phe	missense variant	-	NC_000015.10:g.90761250A>T	ESP,ExAC,TOPMed,gnomAD
RCV000628657	p.Tyr626Phe	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761250A>T	ClinVar
rs773466486	p.Asp628Gly	missense variant	-	NC_000015.10:g.90762966A>G	ExAC,gnomAD
RCV000709360	p.Ser630Pro	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90762971T>C	ClinVar
rs746857727	p.Gln632Lys	missense variant	-	NC_000015.10:g.90762977C>A	-
RCV000628624	p.Gln632Lys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90762977C>A	ClinVar
NCI-TCGA novel	p.Asn633His	missense variant	-	NC_000015.10:g.90762980A>C	NCI-TCGA
COSM3817062	p.Arg637Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90762993G>T	NCI-TCGA Cosmic
rs587778110	p.Asn638Ser	missense variant	-	NC_000015.10:g.90762996A>G	TOPMed,gnomAD
rs587778110	p.Asn638Thr	missense variant	-	NC_000015.10:g.90762996A>C	TOPMed,gnomAD
RCV000628673	p.Asn638Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90762996A>C	ClinVar
RCV000470527	p.Asn638Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90762996A>G	ClinVar
rs201458487	p.Glu642Lys	missense variant	-	NC_000015.10:g.90763007G>A	ESP,ExAC,TOPMed,gnomAD
RCV000530372	p.Glu642Lys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763007G>A	ClinVar
rs12720097	p.Arg643His	missense variant	-	NC_000015.10:g.90763011G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373090621	p.Arg643Cys	missense variant	-	NC_000015.10:g.90763010C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000211548	p.Arg643His	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763011G>A	ClinVar
RCV000459068	p.Arg643Cys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763010C>T	ClinVar
rs371023654	p.Phe644Tyr	missense variant	-	NC_000015.10:g.90763014T>A	ESP,ExAC,TOPMed,gnomAD
rs1270762599	p.Gln645His	missense variant	-	NC_000015.10:g.90763018A>T	gnomAD
rs377563699	p.Gln645Leu	missense variant	-	NC_000015.10:g.90763017A>T	ESP,ExAC,TOPMed,gnomAD
rs373525781	p.Gln645Ter	stop gained	-	NC_000015.10:g.90763016C>T	ESP,ExAC,TOPMed,gnomAD
rs377563699	p.Gln645Arg	missense variant	-	NC_000015.10:g.90763017A>G	ESP,ExAC,TOPMed,gnomAD
RCV000545144	p.Gln645Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90763016C>T	ClinVar
RCV000463716	p.Gln645Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763017A>G	ClinVar
RCV000569839	p.Gln645Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90763017A>G	ClinVar
RCV000576060	p.Gln645Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90763016C>T	ClinVar
rs370293537	p.Ser646Gly	missense variant	-	NC_000015.10:g.90763019A>G	ESP,ExAC,TOPMed,gnomAD
RCV000468403	p.Ser646Gly	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763019A>G	ClinVar
RCV000561975	p.Ser646Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90763019A>G	ClinVar
rs1555420162	p.Leu647Pro	missense variant	-	NC_000015.10:g.90763023T>C	-
RCV000628622	p.Leu647Pro	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763023T>C	ClinVar
COSM279174	p.Leu647Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90763022C>A	NCI-TCGA Cosmic
rs753303865	p.Ser648Cys	missense variant	-	NC_000015.10:g.90763025A>T	ExAC,gnomAD
rs1460158045	p.His651Tyr	missense variant	-	NC_000015.10:g.90763034C>T	gnomAD
rs779368359	p.Thr652Ala	missense variant	-	NC_000015.10:g.90763037A>G	ExAC,gnomAD
rs1475280501	p.Thr652Arg	missense variant	-	NC_000015.10:g.90763038C>G	gnomAD
NCI-TCGA novel	p.Lys653Asn	missense variant	-	NC_000015.10:g.90763042G>T	NCI-TCGA
COSM1301577	p.Lys653Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90763041A>T	NCI-TCGA Cosmic
rs748567176	p.Met655Thr	missense variant	-	NC_000015.10:g.90763047T>C	ExAC,TOPMed,gnomAD
RCV000573356	p.Met655Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90763047T>C	ClinVar
RCV000628613	p.Met655Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763047T>C	ClinVar
rs758782238	p.Lys657Glu	missense variant	-	NC_000015.10:g.90763052A>G	ExAC,TOPMed,gnomAD
RCV000586500	p.Lys657Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90763051dup	ClinVar
RCV000561947	p.Lys657Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90763052A>G	ClinVar
rs187379039	p.Ile658Thr	missense variant	-	NC_000015.10:g.90763056T>C	1000Genomes,ExAC
RCV000709361	p.Ile658Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763055A>G	ClinVar
rs139688226	p.His660Tyr	missense variant	-	NC_000015.10:g.90763061C>T	gnomAD
RCV000667667	p.His660Tyr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763061C>T	ClinVar
RCV000668966	p.Lys662Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90763068_90763069del	ClinVar
RCV000169338	p.Gln672Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763098A>G	ClinVar
rs747281324	p.Gln672Arg	missense variant	-	NC_000015.10:g.90763098A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu674Gln	missense variant	-	NC_000015.10:g.90763103G>C	NCI-TCGA
rs776893468	p.Ile676Val	missense variant	-	NC_000015.10:g.90763109A>G	ExAC,gnomAD
rs745922014	p.Asn677Ser	missense variant	-	NC_000015.10:g.90763113A>G	ExAC,gnomAD
rs768774375	p.Leu681Phe	missense variant	-	NC_000015.10:g.90763124C>T	ExAC,gnomAD
RCV000687150	p.Gly682Asp	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763128G>A	ClinVar
rs1342307269	p.Gly682Asp	missense variant	-	NC_000015.10:g.90763128G>A	TOPMed,gnomAD
rs1262628899	p.Asp684Ala	missense variant	-	NC_000015.10:g.90763134A>C	gnomAD
RCV000692722	p.Asp684Ala	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763134A>C	ClinVar
COSM4057908	p.Asp684Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90763133G>T	NCI-TCGA Cosmic
rs761589072	p.Pro690Leu	missense variant	-	NC_000015.10:g.90763152C>T	ExAC,TOPMed,gnomAD
RCV000535832	p.Pro690Leu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763152C>T	ClinVar
rs1200392081	p.Gly692Val	missense variant	-	NC_000015.10:g.90765296G>T	gnomAD
rs771864442	p.Gly693Asp	missense variant	-	NC_000015.10:g.90765299G>A	ExAC,TOPMed,gnomAD
rs565078630	p.Gly693Ser	missense variant	-	NC_000015.10:g.90765298G>A	1000Genomes,ExAC,gnomAD
rs773097986	p.Ser696Asn	missense variant	-	NC_000015.10:g.90765308G>A	ExAC,TOPMed,gnomAD
rs753973474	p.CysTyr698CysTerLeuUnk	stop gained	-	NC_000015.10:g.90765314_90765317dup	ExAC,gnomAD
rs1420055119	p.Tyr699Cys	missense variant	-	NC_000015.10:g.90765317A>G	gnomAD
rs367543028	p.Gln700Ter	stop gained	-	NC_000015.10:g.90765319C>T	ExAC,TOPMed,gnomAD
RCV000034893	p.Gln700Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90765319C>T	ClinVar
RCV000317685	p.Gln700Ter	nonsense	-	NC_000015.10:g.90765319C>T	ClinVar
rs770625327	p.Pro702Leu	missense variant	-	NC_000015.10:g.90765326C>T	ExAC,gnomAD
rs1246483498	p.Ala703Pro	missense variant	-	NC_000015.10:g.90765328G>C	TOPMed
RCV000563887	p.Pro707Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90765340C>T	ClinVar
rs146077918	p.Pro707Ser	missense variant	-	NC_000015.10:g.90765340C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000115288	p.Pro707Ser	missense variant	-	NC_000015.10:g.90765340C>T	ClinVar
rs1555420390	p.Gly708Arg	missense variant	-	NC_000015.10:g.90765343G>C	-
rs763559820	p.Gly708Glu	missense variant	-	NC_000015.10:g.90765344G>A	ExAC,gnomAD
RCV000628674	p.Gly708Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90765343G>C	ClinVar
rs1311709933	p.Val709Phe	missense variant	-	NC_000015.10:g.90765346G>T	gnomAD
rs764488484	p.Ser714Cys	missense variant	-	NC_000015.10:g.90765362C>G	ExAC,gnomAD
rs1060500636	p.Pro715Ser	missense variant	-	NC_000015.10:g.90765364C>T	-
RCV000457824	p.Pro715Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90765364C>T	ClinVar
COSM4477336	p.Pro715Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90765365C>T	NCI-TCGA Cosmic
rs1020963657	p.Arg717Ser	missense variant	-	NC_000015.10:g.90765372A>T	TOPMed
rs28406486	p.Arg717Thr	missense variant	-	NC_000015.10:g.90765371G>C	-
RCV000628666	p.Arg717Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90765371G>C	ClinVar
rs587779881	p.Leu719Phe	missense variant	-	NC_000015.10:g.90765376C>T	-
RCV000115289	p.Leu719Phe	missense variant	-	NC_000015.10:g.90765376C>T	ClinVar
RCV000549316	p.Leu719Phe	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90765376C>T	ClinVar
rs1436706002	p.Val721Ala	missense variant	-	NC_000015.10:g.90765383T>C	gnomAD
rs559554788	p.Val721Ile	missense variant	-	NC_000015.10:g.90765382G>A	ExAC,gnomAD
RCV000527567	p.Val721Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90765382G>A	ClinVar
rs750687788	p.Val724Ala	missense variant	-	NC_000015.10:g.90765392T>C	ExAC,TOPMed,gnomAD
RCV000706704	p.Thr728Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90765404C>G	ClinVar
rs1440142847	p.Thr728Ala	missense variant	-	NC_000015.10:g.90765403A>G	TOPMed,gnomAD
rs866243946	p.Ser729Phe	missense variant	-	NC_000015.10:g.90765407C>T	TOPMed
NCI-TCGA novel	p.Leu730CysPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.90765409_90765410insG	NCI-TCGA
rs1459619445	p.Asp731Asn	missense variant	-	NC_000015.10:g.90765412G>A	TOPMed
rs756354696	p.Asp731Glu	missense variant	-	NC_000015.10:g.90765414T>G	ExAC,TOPMed,gnomAD
rs1555420546	p.Ile732Phe	missense variant	-	NC_000015.10:g.90766910A>T	-
RCV000628639	p.Ile732Phe	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90766910A>T	ClinVar
rs940792839	p.Pro733Ser	missense variant	-	NC_000015.10:g.90766913C>T	TOPMed,gnomAD
rs1301298294	p.Ala734Ser	missense variant	-	NC_000015.10:g.90766916G>T	gnomAD
RCV000005787	p.Tyr736Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90766923_90766928delinsTAGATTC	ClinVar
RCV000562115	p.Tyr736Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90766923_90766928delinsTAGATTC	ClinVar
RCV000058933	p.Tyr736Ter	frameshift	-	NC_000015.10:g.90766923_90766928delinsTAGATTC	ClinVar
rs865899765	p.Tyr736Ter	stop gained	-	NC_000015.10:g.90766924T>G	TOPMed
RCV000336886	p.Tyr736Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90766922dup	ClinVar
rs781008303	p.Tyr736Cys	missense variant	-	NC_000015.10:g.90766923A>G	ExAC,TOPMed,gnomAD
rs901867383	p.Leu737Met	missense variant	-	NC_000015.10:g.90766925C>A	TOPMed
rs1474290499	p.Thr738Arg	missense variant	-	NC_000015.10:g.90766929C>G	TOPMed
RCV000628670	p.Thr738Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90766929C>G	ClinVar
rs1050741211	p.Thr738Pro	missense variant	-	NC_000015.10:g.90766928A>C	TOPMed
rs745642690	p.Gly739Ser	missense variant	-	NC_000015.10:g.90766931G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly739Val	missense variant	-	NC_000015.10:g.90766932G>T	NCI-TCGA
NCI-TCGA novel	p.Lys741Asn	missense variant	-	NC_000015.10:g.90766939G>T	NCI-TCGA
COSM6078039	p.Asp743Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90766943G>A	NCI-TCGA Cosmic
rs769498533	p.Ala746Val	missense variant	-	NC_000015.10:g.90766953C>T	ExAC,TOPMed,gnomAD
RCV000461321	p.Ala746Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90766953C>T	ClinVar
rs775004288	p.Thr747Ile	missense variant	-	NC_000015.10:g.90766956C>T	ExAC,TOPMed,gnomAD
rs775004288	p.Thr747Lys	missense variant	-	NC_000015.10:g.90766956C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr747Ala	missense variant	-	NC_000015.10:g.90766955A>G	NCI-TCGA
rs748905577	p.Ile749Thr	missense variant	-	NC_000015.10:g.90766962T>C	ExAC,gnomAD
rs1200806527	p.Ile749Val	missense variant	-	NC_000015.10:g.90766961A>G	gnomAD
NCI-TCGA novel	p.Ile749Asn	missense variant	-	NC_000015.10:g.90766962T>A	NCI-TCGA
RCV000169119	p.Leu751Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90766966_90766967insAAAT	ClinVar
rs1292127075	p.Leu751Phe	missense variant	-	NC_000015.10:g.90766967C>T	TOPMed
rs1424485988	p.Gln752Lys	missense variant	-	NC_000015.10:g.90766970C>A	gnomAD
RCV000709362	p.Leu753Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90766974T>A	ClinVar
rs1400231534	p.Leu753Ter	stop gained	-	NC_000015.10:g.90766974T>A	TOPMed
rs142551229	p.Lys755Glu	missense variant	-	NC_000015.10:g.90766979A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000120225	p.Lys755Glu	missense variant	-	NC_000015.10:g.90766979A>G	ClinVar
rs762439709	p.Lys756Arg	missense variant	-	NC_000015.10:g.90766983A>G	ExAC,gnomAD
rs747341586	p.Asp757ThrPheSerTerUnk	frameshift	-	NC_000015.10:g.90766978A>-	NCI-TCGA,NCI-TCGA Cosmic
rs773761682	p.Asp757Glu	missense variant	-	NC_000015.10:g.90766987C>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp757ArgPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.90766977_90766978insA	NCI-TCGA
rs1555420599	p.Lys761Glu	missense variant	-	NC_000015.10:g.90766997A>G	-
RCV000572987	p.Lys761Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90766997A>G	ClinVar
rs896043726	p.Leu763Ile	missense variant	-	NC_000015.10:g.90767003C>A	gnomAD
RCV000673943	p.Tyr764Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90767005_90767006AT[1]	ClinVar
rs191789336	p.Val765Ile	missense variant	-	NC_000015.10:g.90767009G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000526205	p.Val765Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90767009G>A	ClinVar
rs1340640018	p.Thr766Ser	missense variant	-	NC_000015.10:g.90767013C>G	gnomAD
rs1060500640	p.Glu768Lys	missense variant	-	NC_000015.10:g.90767018G>A	-
RCV000477040	p.Glu768Lys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90767018G>A	ClinVar
rs754007141	p.Lys769Asn	missense variant	-	NC_000015.10:g.90767023G>T	ExAC,gnomAD
rs1218122851	p.Lys769Gln	missense variant	-	NC_000015.10:g.90767021A>C	gnomAD
rs777003918	p.Ile770Val	missense variant	-	NC_000015.10:g.90769133A>G	ExAC,gnomAD
rs1555420831	p.Cys771Tyr	missense variant	-	NC_000015.10:g.90769137G>A	-
RCV000628653	p.Cys771Tyr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769137G>A	ClinVar
COSM1375444	p.Cys771Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.90769138T>A	NCI-TCGA Cosmic
rs1236574926	p.Ala772Thr	missense variant	-	NC_000015.10:g.90769139G>A	gnomAD
rs765478171	p.Ala772Val	missense variant	-	NC_000015.10:g.90769140C>T	ExAC,TOPMed,gnomAD
rs1476764085	p.Asn774Asp	missense variant	-	NC_000015.10:g.90769145A>G	TOPMed
rs1245556905	p.Asn774Ser	missense variant	-	NC_000015.10:g.90769146A>G	TOPMed
rs1483824560	p.Leu776Phe	missense variant	-	NC_000015.10:g.90769151C>T	TOPMed
rs764097842	p.Ile777Val	missense variant	-	NC_000015.10:g.90769154A>G	ExAC,gnomAD
rs139610577	p.Ser778Cys	missense variant	-	NC_000015.10:g.90769158C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser778Phe	missense variant	-	NC_000015.10:g.90769158C>T	NCI-TCGA
RCV000233226	p.Ser778Cys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769158C>G	ClinVar
RCV000467746	p.Asn782Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90769166_90769167GA[3]	ClinVar
rs1430052148	p.Leu783Phe	missense variant	-	NC_000015.10:g.90769172C>T	gnomAD
rs753635754	p.Tyr784Phe	missense variant	-	NC_000015.10:g.90769176A>T	ExAC,gnomAD
RCV000665636	p.Tyr784Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90769172_90769173CT[3]	ClinVar
rs779746222	p.Tyr784Asn	missense variant	-	NC_000015.10:g.90769175T>A	ExAC,TOPMed,gnomAD
rs753635754	p.Tyr784Cys	missense variant	-	NC_000015.10:g.90769176A>G	ExAC,gnomAD
NCI-TCGA novel	p.Tyr784Ter	frameshift	-	NC_000015.10:g.90769175_90769176TA>-	NCI-TCGA
RCV000540918	p.Tyr784Cys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769176A>G	ClinVar
RCV000696140	p.Glu785Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90769178_90769179insTT	ClinVar
rs369065966	p.Arg786Lys	missense variant	-	NC_000015.10:g.90769182G>A	ESP,ExAC,TOPMed,gnomAD
rs778695045	p.Lys787Arg	missense variant	-	NC_000015.10:g.90769185A>G	ExAC,gnomAD
RCV000564057	p.Leu788Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90769187C>A	ClinVar
RCV000115292	p.Leu788Ile	missense variant	-	NC_000015.10:g.90769187C>A	ClinVar
rs149754073	p.Leu788Ile	missense variant	-	NC_000015.10:g.90769187C>A	ESP,ExAC,TOPMed,gnomAD
rs149754073	p.Leu788Phe	missense variant	-	NC_000015.10:g.90769187C>T	ESP,ExAC,TOPMed,gnomAD
rs1060500651	p.Leu789Phe	missense variant	-	NC_000015.10:g.90769192G>C	-
RCV000473419	p.Leu789Phe	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769192G>C	ClinVar
rs777355959	p.Ala790Thr	missense variant	-	NC_000015.10:g.90769193G>A	ExAC,gnomAD
rs55880859	p.Arg791Cys	missense variant	-	NC_000015.10:g.90769196C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1322472868	p.Arg791His	missense variant	-	NC_000015.10:g.90769197G>A	TOPMed,gnomAD
RCV000120226	p.Arg791Cys	missense variant	-	NC_000015.10:g.90769196C>T	ClinVar
RCV000628631	p.Arg791Cys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769196C>T	ClinVar
RCV000568596	p.Arg791Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90769196C>T	ClinVar
rs1198070682	p.Val793Ile	missense variant	-	NC_000015.10:g.90769202G>A	gnomAD
rs373819952	p.Ile794Thr	missense variant	-	NC_000015.10:g.90769206T>C	ESP,ExAC,TOPMed,gnomAD
rs1459262395	p.Ala797Ser	missense variant	-	NC_000015.10:g.90769214G>T	gnomAD
rs1459262395	p.Ala797Pro	missense variant	-	NC_000015.10:g.90769214G>C	gnomAD
NCI-TCGA novel	p.His798Tyr	missense variant	-	NC_000015.10:g.90769217C>T	NCI-TCGA
rs1348827963	p.Ser801Thr	missense variant	-	NC_000015.10:g.90769227G>C	TOPMed
rs775698338	p.Ser801Gly	missense variant	-	NC_000015.10:g.90769226A>G	ExAC,gnomAD
rs148394770	p.Trp803Arg	missense variant	-	NC_000015.10:g.90769438T>C	ESP,ExAC,TOPMed,gnomAD
rs761938011	p.Trp803Leu	missense variant	-	NC_000015.10:g.90769439G>T	ExAC,gnomAD
RCV000035004	p.Trp803Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90769438dup	ClinVar
RCV000598767	p.Trp803Ter	frameshift	-	NC_000015.10:g.90769438dup	ClinVar
NCI-TCGA novel	p.Gly804Val	missense variant	-	NC_000015.10:g.90769442G>T	NCI-TCGA
rs1412341951	p.Gly804Ter	stop gained	-	NC_000015.10:g.90769441G>T	gnomAD
rs766292814	p.His805Leu	missense variant	-	NC_000015.10:g.90769445A>T	ExAC,gnomAD
rs776635210	p.Asp806Asn	missense variant	-	NC_000015.10:g.90769447G>A	ExAC
rs759330541	p.Arg808Cys	missense variant	-	NC_000015.10:g.90769453C>T	ExAC,TOPMed,gnomAD
rs1399382807	p.Arg808His	missense variant	-	NC_000015.10:g.90769454G>A	gnomAD
RCV000471360	p.Arg808Cys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769453C>T	ClinVar
rs1415761543	p.Gln809Pro	missense variant	-	NC_000015.10:g.90769457A>C	TOPMed
rs765143263	p.Asp810His	missense variant	-	NC_000015.10:g.90769459G>C	ExAC,TOPMed
RCV000466282	p.Asp810His	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769459G>C	ClinVar
rs765143263	p.Asp810Asn	missense variant	-	NC_000015.10:g.90769459G>A	ExAC,TOPMed
rs145029382	p.Tyr811Cys	missense variant	-	NC_000015.10:g.90769463A>G	ESP,ExAC,TOPMed,gnomAD
RCV000477499	p.Tyr811Cys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769463A>G	ClinVar
rs763827222	p.Lys812Gln	missense variant	-	NC_000015.10:g.90769465A>C	ExAC,TOPMed,gnomAD
RCV000628656	p.Lys812Gln	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769465A>C	ClinVar
rs1274275865	p.Arg813Thr	missense variant	-	NC_000015.10:g.90769469G>C	gnomAD
rs756799764	p.Met816Ile	missense variant	-	NC_000015.10:g.90769479G>A	ExAC,gnomAD
rs751100504	p.Met816Val	missense variant	-	NC_000015.10:g.90769477A>G	ExAC,gnomAD
rs780514723	p.Arg818Pro	missense variant	-	NC_000015.10:g.90769484G>C	ExAC,TOPMed,gnomAD
rs780514723	p.Arg818His	missense variant	-	NC_000015.10:g.90769484G>A	ExAC,TOPMed,gnomAD
rs1279814185	p.Arg818Cys	missense variant	-	NC_000015.10:g.90769483C>T	TOPMed,gnomAD
RCV000554341	p.Arg818Cys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769483C>T	ClinVar
rs1279814185	p.Arg818Gly	missense variant	-	NC_000015.10:g.90769483C>G	TOPMed,gnomAD
rs587779882	p.Arg818Gly	missense variant	-	NC_000015.10:g.90769483_90769485delinsGGG	-
RCV000532627	p.Arg818His	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769484G>A	ClinVar
RCV000628675	p.Arg818Gly	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769483C>G	ClinVar
RCV000115293	p.Arg818Gly	missense variant	-	NC_000015.10:g.90769483_90769485delinsGGG	ClinVar
rs1265964518	p.Gln819Arg	missense variant	-	NC_000015.10:g.90769487A>G	TOPMed,gnomAD
rs756574799	p.Phe821Cys	missense variant	-	NC_000015.10:g.90769493T>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe821Ser	missense variant	-	NC_000015.10:g.90769493T>C	NCI-TCGA
NCI-TCGA novel	p.Ser823Cys	missense variant	-	NC_000015.10:g.90769499C>G	NCI-TCGA
COSM702119	p.Ser823Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90769499C>T	NCI-TCGA Cosmic
rs749632465	p.Pro825Leu	missense variant	-	NC_000015.10:g.90769505C>T	ExAC,TOPMed,gnomAD
RCV000477248	p.Pro825Leu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769505C>T	ClinVar
COSM966539	p.Pro825Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90769505C>A	NCI-TCGA Cosmic
rs1476854295	p.Val826Gly	missense variant	-	NC_000015.10:g.90769508T>G	gnomAD
rs1319281718	p.Val826Leu	missense variant	-	NC_000015.10:g.90769507G>T	TOPMed
RCV000628648	p.Met827Lys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769511T>A	ClinVar
rs748250819	p.Met827Lys	missense variant	-	NC_000015.10:g.90769511T>A	ExAC,TOPMed,gnomAD
rs748250819	p.Met827Thr	missense variant	-	NC_000015.10:g.90769511T>C	ExAC,TOPMed,gnomAD
COSM6078038	p.Met827Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90769512G>A	NCI-TCGA Cosmic
rs773112117	p.Leu829Arg	missense variant	-	NC_000015.10:g.90769517T>G	ExAC,gnomAD
rs1408373309	p.Leu829Phe	missense variant	-	NC_000015.10:g.90769516C>T	gnomAD
rs759545027	p.Thr830Met	missense variant	-	NC_000015.10:g.90769520C>T	ExAC,TOPMed,gnomAD
RCV000035005	p.Thr830Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90769519dup	ClinVar
rs775471367	p.Thr832Ile	missense variant	-	NC_000015.10:g.90769526C>T	ExAC,gnomAD
rs763918749	p.Ala833Thr	missense variant	-	NC_000015.10:g.90769528G>A	ExAC,gnomAD
COSM3402011	p.Asn834Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90769531A>T	NCI-TCGA Cosmic
rs1453740725	p.Pro835Leu	missense variant	-	NC_000015.10:g.90769535C>T	gnomAD
rs577806633	p.Arg836Gly	missense variant	-	NC_000015.10:g.90769537A>G	1000Genomes
RCV000574956	p.Arg836Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90769537_90769538del	ClinVar
RCV000628669	p.Arg836Gly	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769537A>G	ClinVar
RCV000034897	p.Arg836Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90769537_90769538del	ClinVar
RCV000705086	p.Arg836Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90769537del	ClinVar
rs756815062	p.Lys839Met	missense variant	-	NC_000015.10:g.90769547A>T	ExAC,TOPMed,gnomAD
rs756815062	p.Lys839Arg	missense variant	-	NC_000015.10:g.90769547A>G	ExAC,TOPMed,gnomAD
RCV000543633	p.Lys839Glu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769546A>G	ClinVar
RCV000264848	p.Lys839Glu	missense variant	-	NC_000015.10:g.90769546A>G	ClinVar
rs201427280	p.Lys839Glu	missense variant	-	NC_000015.10:g.90769546A>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000558307	p.Lys839Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769547A>G	ClinVar
RCV000565904	p.Lys839Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90769546A>G	ClinVar
rs1238410843	p.Asp840His	missense variant	-	NC_000015.10:g.90769549G>C	TOPMed,gnomAD
rs1238410843	p.Asp840Asn	missense variant	-	NC_000015.10:g.90769549G>A	TOPMed,gnomAD
rs767086502	p.Ile841Thr	missense variant	-	NC_000015.10:g.90769553T>C	ExAC,gnomAD
rs767086502	p.Ile841Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769553T>C	UniProt,dbSNP
VAR_016032	p.Ile841Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769553T>C	UniProt
NCI-TCGA novel	p.Ile841ThrPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.90769552_90769553insC	NCI-TCGA
rs1209722688	p.Leu842Met	missense variant	-	NC_000015.10:g.90769555C>A	TOPMed,gnomAD
rs369535442	p.Leu842Pro	missense variant	-	NC_000015.10:g.90769556T>C	ESP
RCV000532085	p.Leu842Met	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769555C>A	ClinVar
NCI-TCGA novel	p.Leu842ArgPheSerTerUnk	frameshift	-	NC_000015.10:g.90769553_90769554insTAGACATGTAAAAA	NCI-TCGA
rs137853152	p.Thr843Ile	missense variant	-	NC_000015.10:g.90769559C>T	-
rs137853152	p.Thr843Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769559C>T	UniProt,dbSNP
VAR_006902	p.Thr843Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769559C>T	UniProt
rs749871386	p.Gln844Pro	missense variant	-	NC_000015.10:g.90769562A>C	ExAC,gnomAD
rs981608488	p.Leu845Pro	missense variant	-	NC_000015.10:g.90769565T>C	TOPMed
rs756664681	p.Ile847Ser	missense variant	-	NC_000015.10:g.90769571T>G	ExAC,gnomAD
RCV000628660	p.Ile847Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90769570del	ClinVar
rs1253226305	p.Leu848Phe	missense variant	-	NC_000015.10:g.90769573C>T	gnomAD
rs780523899	p.Arg849Lys	missense variant	-	NC_000015.10:g.90769577G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg849Thr	missense variant	-	NC_000015.10:g.90769577G>C	NCI-TCGA
rs767638712	p.Gln851Glu	missense variant	-	NC_000015.10:g.90769582C>G	ExAC,TOPMed,gnomAD
RCV000687305	p.Gln851Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769583A>G	ClinVar
rs1454270314	p.Gln851Arg	missense variant	-	NC_000015.10:g.90769583A>G	gnomAD
RCV000592778	p.Gln851Arg	missense variant	-	NC_000015.10:g.90769583A>G	ClinVar
rs758692622	p.Ser854Asn	missense variant	-	NC_000015.10:g.90782827G>A	ExAC,TOPMed,gnomAD
rs752969832	p.Ser854Gly	missense variant	-	NC_000015.10:g.90782826A>G	ExAC,gnomAD
RCV000628681	p.Ser854Asn	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90782827G>A	ClinVar
RCV000703461	p.Met855Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90782829A>G	ClinVar
RCV000709366	p.Phe857Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90782836T>C	ClinVar
RCV000546813	p.Asn858Asp	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90782838A>G	ClinVar
rs1555422355	p.Asn858Asp	missense variant	-	NC_000015.10:g.90782838A>G	-
RCV000709367	p.Arg859Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90782842_90782843del	ClinVar
RCV000204244	p.His860Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90782846_90782847del	ClinVar
rs777842626	p.Tyr865Ser	missense variant	-	NC_000015.10:g.90782860A>C	ExAC,TOPMed,gnomAD
rs777842626	p.Tyr865Cys	missense variant	-	NC_000015.10:g.90782860A>G	ExAC,TOPMed,gnomAD
RCV000556974	p.Tyr865Cys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90782860A>G	ClinVar
rs1316728192	p.Val866Leu	missense variant	-	NC_000015.10:g.90782862G>T	gnomAD
rs2227935	p.Pro868Arg	missense variant	-	NC_000015.10:g.90782869C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2227935	p.Pro868Leu	missense variant	-	NC_000015.10:g.90782869C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000568944	p.Pro868Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90782869C>T	ClinVar
RCV000586013	p.Pro868Leu	missense variant	-	NC_000015.10:g.90782869C>T	ClinVar
RCV000078058	p.Pro868Leu	missense variant	-	NC_000015.10:g.90782869C>T	ClinVar
RCV000628635	p.Lys869Gln	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90782871A>C	ClinVar
rs1555422363	p.Lys869Gln	missense variant	-	NC_000015.10:g.90782871A>C	-
rs146723808	p.Lys873Asn	missense variant	-	NC_000015.10:g.90782885G>C	ESP,ExAC,TOPMed,gnomAD
rs771826270	p.Lys873Met	missense variant	-	NC_000015.10:g.90782884A>T	ExAC,gnomAD
RCV000469889	p.Lys873Asn	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90782885G>C	ClinVar
RCV000570597	p.Lys873Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90782885G>C	ClinVar
rs1173168035	p.Phe876Leu	missense variant	-	NC_000015.10:g.90782894T>G	gnomAD
rs1373872204	p.Asp877Ala	missense variant	-	NC_000015.10:g.90782896A>C	TOPMed,gnomAD
rs1373872204	p.Asp877Gly	missense variant	-	NC_000015.10:g.90782896A>G	TOPMed,gnomAD
rs966788239	p.Cys878Ser	missense variant	-	NC_000015.10:g.90782899G>C	TOPMed,gnomAD
VAR_016033	p.Cys878Arg	Missense	Bloom syndrome (BLM) [MIM:210900]	-	UniProt
rs1461606733	p.Leu879Val	missense variant	-	NC_000015.10:g.90782901C>G	TOPMed
RCV000700665	p.Leu879Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90782901C>G	ClinVar
rs201770808	p.Glu880Gln	missense variant	-	NC_000015.10:g.90782904G>C	ESP,ExAC,TOPMed,gnomAD
RCV000120227	p.Glu880Gln	missense variant	-	NC_000015.10:g.90782904G>C	ClinVar
rs367543039	p.Trp881Ter	stop gained	-	NC_000015.10:g.90782909G>A	ExAC,gnomAD
rs1420145471	p.His886Pro	missense variant	-	NC_000015.10:g.90782923A>C	TOPMed
rs765636566	p.His886Tyr	missense variant	-	NC_000015.10:g.90782922C>T	ExAC,gnomAD
rs765636566	p.His886Asn	missense variant	-	NC_000015.10:g.90782922C>A	ExAC,gnomAD
RCV000628618	p.His886Asn	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90782922C>A	ClinVar
rs758696992	p.Tyr888His	missense variant	-	NC_000015.10:g.90782928T>C	ExAC,gnomAD
RCV000560159	p.Tyr888His	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90782928T>C	ClinVar
rs763471784	p.Gly891Val	missense variant	-	NC_000015.10:g.90784930G>T	ExAC,gnomAD
rs763471784	p.Gly891Glu	missense variant	-	NC_000015.10:g.90784930G>A	ExAC,gnomAD
RCV000628643	p.Gly891Glu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90784930G>A	ClinVar
rs1391076273	p.Gly891Arg	missense variant	-	NC_000015.10:g.90784929G>A	TOPMed
VAR_009138	p.Gly891Glu	Missense	Bloom syndrome (BLM) [MIM:210900]	-	UniProt
rs764587569	p.Ile892Val	missense variant	-	NC_000015.10:g.90784932A>G	ExAC,TOPMed,gnomAD
rs1284962627	p.Ile892Met	missense variant	-	NC_000015.10:g.90784934A>G	gnomAD
RCV000628644	p.Ile892Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90784932A>G	ClinVar
RCV000562947	p.Ile892Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90784932A>G	ClinVar
NCI-TCGA novel	p.Ile893Met	missense variant	-	NC_000015.10:g.90784937T>G	NCI-TCGA
rs587779883	p.Cys895Gly	missense variant	-	NC_000015.10:g.90784941T>G	ExAC,TOPMed,gnomAD
RCV000115297	p.Cys895Gly	missense variant	-	NC_000015.10:g.90784941T>G	ClinVar
rs151309611	p.Leu896Val	missense variant	-	NC_000015.10:g.90784944C>G	ESP,ExAC,TOPMed,gnomAD
rs151309611	p.Leu896Phe	missense variant	-	NC_000015.10:g.90784944C>T	ESP,ExAC,TOPMed,gnomAD
rs750600011	p.Ser897Cys	missense variant	-	NC_000015.10:g.90784948C>G	ExAC,gnomAD
rs587779884	p.Arg899Ter	stop gained	-	NC_000015.10:g.90784953C>T	ExAC,TOPMed,gnomAD
RCV000526943	p.Arg899Gln	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90784954G>A	ClinVar
rs748054605	p.Arg899Gln	missense variant	-	NC_000015.10:g.90784954G>A	ExAC,TOPMed,gnomAD
RCV000169191	p.Arg899Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90784953C>T	ClinVar
rs758311406	p.Cys901Tyr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90784960G>A	UniProt,dbSNP
VAR_009139	p.Cys901Tyr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90784960G>A	UniProt
rs758311406	p.Cys901Tyr	missense variant	-	NC_000015.10:g.90784960G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp902His	missense variant	-	NC_000015.10:g.90784962G>C	NCI-TCGA
rs777584683	p.Thr903Ile	missense variant	-	NC_000015.10:g.90784966C>T	ExAC,gnomAD
rs1160442115	p.Met904Thr	missense variant	-	NC_000015.10:g.90784969T>C	gnomAD
rs367953471	p.Thr907Met	missense variant	-	NC_000015.10:g.90784978C>T	ESP,ExAC,TOPMed,gnomAD
RCV000409206	p.Thr907Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90784978_90784984del	ClinVar
RCV000115299	p.Thr907Met	missense variant	-	NC_000015.10:g.90784978C>T	ClinVar
RCV000461478	p.Thr907Met	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90784978C>T	ClinVar
RCV000566952	p.Thr907Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90784978C>T	ClinVar
rs1359674419	p.Leu908Val	missense variant	-	NC_000015.10:g.90784980T>G	TOPMed
rs770627241	p.Gln909Arg	missense variant	-	NC_000015.10:g.90784984A>G	ExAC,gnomAD
rs1456964727	p.Gln909Glu	missense variant	-	NC_000015.10:g.90784983C>G	gnomAD
RCV000695718	p.Arg910Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90784987G>C	ClinVar
NCI-TCGA novel	p.Leu913Arg	missense variant	-	NC_000015.10:g.90784996T>G	NCI-TCGA
rs372013507	p.Ala914Thr	missense variant	-	NC_000015.10:g.90784998G>A	ESP,ExAC,TOPMed,gnomAD
RCV000628649	p.Ala914Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90784998G>A	ClinVar
rs775026151	p.Ala915Val	missense variant	-	NC_000015.10:g.90785002C>T	ExAC,TOPMed,gnomAD
RCV000541692	p.Ala915Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90785002C>T	ClinVar
RCV000547337	p.Leu916Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90785004C>G	ClinVar
rs1424143421	p.Leu916Phe	missense variant	-	NC_000015.10:g.90785004C>T	TOPMed
rs1424143421	p.Leu916Val	missense variant	-	NC_000015.10:g.90785004C>G	TOPMed
rs1284859576	p.His919Tyr	missense variant	-	NC_000015.10:g.90785013C>T	gnomAD
rs1371241049	p.Ala920Gly	missense variant	-	NC_000015.10:g.90785017C>G	TOPMed
NCI-TCGA novel	p.Gly921Val	missense variant	-	NC_000015.10:g.90785020G>T	NCI-TCGA
rs201432297	p.Leu922Pro	missense variant	-	NC_000015.10:g.90785023T>C	1000Genomes
rs1219485932	p.Ser923Asn	missense variant	-	NC_000015.10:g.90785026G>A	gnomAD
rs1219485932	p.Ser923Thr	missense variant	-	NC_000015.10:g.90785026G>C	gnomAD
RCV000628680	p.Ser923Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90785026G>C	ClinVar
rs1275060845	p.Arg927Ser	missense variant	-	NC_000015.10:g.90785039A>C	gnomAD
rs1032746564	p.Asp928Glu	missense variant	-	NC_000015.10:g.90785042T>A	gnomAD
rs764679551	p.Glu929Asp	missense variant	-	NC_000015.10:g.90785045A>C	ExAC,TOPMed,gnomAD
rs1198196712	p.Glu929Gly	missense variant	-	NC_000015.10:g.90785044A>G	TOPMed,gnomAD
RCV000542711	p.Glu929Asp	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90785045A>C	ClinVar
rs1471344734	p.Gln931Lys	missense variant	-	NC_000015.10:g.90785049C>A	gnomAD
rs1178355159	p.Gln931Arg	missense variant	-	NC_000015.10:g.90785050A>G	gnomAD
rs1427273201	p.Gln932Arg	missense variant	-	NC_000015.10:g.90785053A>G	gnomAD
rs774916971	p.Ile935Val	missense variant	-	NC_000015.10:g.90785061A>G	ExAC,TOPMed,gnomAD
RCV000628646	p.Asn936Asp	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90785064A>G	ClinVar
rs1422513540	p.Asn936Asp	missense variant	-	NC_000015.10:g.90785064A>G	TOPMed,gnomAD
RCV000671509	p.Asn936Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90785065del	ClinVar
rs1162125957	p.Cys940Ser	missense variant	-	NC_000015.10:g.90785077G>C	gnomAD
rs1057516700	p.Gln941Ter	stop gained	-	NC_000015.10:g.90785079C>T	-
rs762267785	p.Gln941Arg	missense variant	-	NC_000015.10:g.90785080A>G	ExAC,TOPMed,gnomAD
RCV000232781	p.Gln941Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90785080A>G	ClinVar
RCV000410779	p.Gln941Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90785079C>T	ClinVar
rs1301812486	p.Ile943Val	missense variant	-	NC_000015.10:g.90790652A>G	TOPMed
NCI-TCGA novel	p.Thr946Lys	missense variant	-	NC_000015.10:g.90790662C>A	NCI-TCGA
rs1024172175	p.Ile947Thr	missense variant	-	NC_000015.10:g.90790665T>C	gnomAD
rs189925962	p.Ile947Val	missense variant	-	NC_000015.10:g.90790664A>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000674804	p.Ile947Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790665T>C	ClinVar
RCV000541196	p.Ile947Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790664A>G	ClinVar
rs1156545383	p.Ala948Glu	missense variant	-	NC_000015.10:g.90790668C>A	TOPMed
rs1215334301	p.Gly950Ter	stop gained	-	NC_000015.10:g.90790673G>T	TOPMed,gnomAD
rs575498961	p.Gly950Glu	missense variant	-	NC_000015.10:g.90790674G>A	1000Genomes,TOPMed
RCV000694716	p.Met951Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90790676_90790682del	ClinVar
rs367543034	p.Gly952Val	missense variant	-	NC_000015.10:g.90790680G>T	gnomAD
RCV000573639	p.Ile953Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90790683T>C	ClinVar
RCV000686394	p.Ile953Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790683T>C	ClinVar
rs962069708	p.Pro956Leu	missense variant	-	NC_000015.10:g.90790692C>T	gnomAD
RCV000556048	p.Val958Glu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790698T>A	ClinVar
rs1555423088	p.Val958Glu	missense variant	-	NC_000015.10:g.90790698T>A	-
rs775006576	p.Val958Met	missense variant	-	NC_000015.10:g.90790697G>A	ExAC,TOPMed,gnomAD
rs772585415	p.Arg959Gln	missense variant	-	NC_000015.10:g.90790701G>A	ExAC,TOPMed,gnomAD
rs762354041	p.Arg959Ter	stop gained	-	NC_000015.10:g.90790700C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg959Leu	missense variant	-	NC_000015.10:g.90790701G>T	NCI-TCGA
RCV000469284	p.Arg959Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90790700C>T	ClinVar
rs760842454	p.Phe960Leu	missense variant	-	NC_000015.10:g.90790703T>C	ExAC,gnomAD
rs1060500639	p.Val961Leu	missense variant	-	NC_000015.10:g.90790706G>T	-
RCV000467402	p.Val961Leu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790706G>T	ClinVar
RCV000703486	p.Val961Ala	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790707T>C	ClinVar
rs572734846	p.Leu966Pro	missense variant	-	NC_000015.10:g.90790722T>C	1000Genomes,ExAC,gnomAD
rs554564999	p.Leu966Phe	missense variant	-	NC_000015.10:g.90790721C>T	1000Genomes,ExAC,gnomAD
rs1267672804	p.Lys968Glu	missense variant	-	NC_000015.10:g.90790727A>G	TOPMed
rs1243051560	p.Val970Leu	missense variant	-	NC_000015.10:g.90790733G>T	TOPMed
rs150475674	p.Gly972Val	missense variant	-	NC_000015.10:g.90790740G>T	ESP,ExAC,TOPMed,gnomAD
RCV000628633	p.Tyr973Asn	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790742T>A	ClinVar
rs1555423104	p.Tyr973Asn	missense variant	-	NC_000015.10:g.90790742T>A	-
rs757148522	p.Gln975Glu	missense variant	-	NC_000015.10:g.90790748C>G	ExAC,TOPMed,gnomAD
RCV000115301	p.Gln975Ter	frameshift	-	NC_000015.10:g.90790748del	ClinVar
RCV000571923	p.Gln975Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90790748del	ClinVar
RCV000034902	p.Gln975Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90790748del	ClinVar
rs780890722	p.Glu976Ter	stop gained	-	NC_000015.10:g.90790751G>T	ExAC,gnomAD
rs750210123	p.Gly978Val	missense variant	-	NC_000015.10:g.90790758G>T	ExAC,gnomAD
COSM1301578	p.Arg979Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90790761G>C	NCI-TCGA Cosmic
rs1041847799	p.Ala980Pro	missense variant	-	NC_000015.10:g.90790763G>C	gnomAD
rs1215029737	p.Ala980Val	missense variant	-	NC_000015.10:g.90790764C>T	gnomAD
rs1041847799	p.Ala980Thr	missense variant	-	NC_000015.10:g.90790763G>A	gnomAD
NCI-TCGA novel	p.Arg982AsnIlePheIleIle	insertion	-	NC_000015.10:g.90790770_90790771insGAACATTTTCATAAT	NCI-TCGA
rs1281589498	p.Arg982Lys	missense variant	-	NC_000015.10:g.90790770G>A	gnomAD
rs755784410	p.Gly984Arg	missense variant	-	NC_000015.10:g.90790775G>A	ExAC,TOPMed,gnomAD
RCV000234425	p.Gly984Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790775G>A	ClinVar
COSM6143138	p.Gly984Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90790776G>T	NCI-TCGA Cosmic
rs138329850	p.Glu985Asp	missense variant	-	NC_000015.10:g.90790780A>C	ESP,TOPMed
RCV000456674	p.Ile986Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790782T>C	ClinVar
rs1060500631	p.Ile986Thr	missense variant	-	NC_000015.10:g.90790782T>C	-
RCV000699725	p.Ile986Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790781A>G	ClinVar
rs1555423111	p.Ser987Cys	missense variant	-	NC_000015.10:g.90790785C>G	-
rs1555423111	p.Ser987Phe	missense variant	-	NC_000015.10:g.90790785C>T	-
RCV000628637	p.Ser987Cys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790785C>G	ClinVar
RCV000529683	p.Ser987Phe	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790785C>T	ClinVar
rs1555423112	p.Cys989Arg	missense variant	-	NC_000015.10:g.90790790T>C	-
RCV000544576	p.Cys989Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790790T>C	ClinVar
NCI-TCGA novel	p.Phe992Val	missense variant	-	NC_000015.10:g.90790799T>G	NCI-TCGA
rs371418699	p.Phe992Ser	missense variant	-	NC_000015.10:g.90790800T>C	ESP,TOPMed,gnomAD
rs1245758227	p.Tyr993Cys	missense variant	-	NC_000015.10:g.90790803A>G	gnomAD
RCV000466196	p.Thr994Ala	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790805A>G	ClinVar
rs1060500632	p.Thr994Ala	missense variant	-	NC_000015.10:g.90790805A>G	-
RCV000628665	p.Tyr995His	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790808T>C	ClinVar
rs142723411	p.Tyr995His	missense variant	-	NC_000015.10:g.90790808T>C	ESP,TOPMed
rs779755994	p.Tyr995Cys	missense variant	-	NC_000015.10:g.90790809A>G	ExAC,gnomAD
rs779755994	p.Tyr995Phe	missense variant	-	NC_000015.10:g.90790809A>T	ExAC,gnomAD
rs1195271909	p.His996Tyr	missense variant	-	NC_000015.10:g.90790811C>T	TOPMed,gnomAD
rs1451226538	p.His996Arg	missense variant	-	NC_000015.10:g.90790812A>G	TOPMed
RCV000700982	p.Thr999Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790821C>G	ClinVar
rs1395403568	p.Arg1000Ser	missense variant	-	NC_000015.10:g.90790825A>T	gnomAD
RCV000688420	p.Arg1000Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790825A>T	ClinVar
rs768296840	p.Lys1002Glu	missense variant	-	NC_000015.10:g.90790829A>G	ExAC,gnomAD
rs778515103	p.Leu1004Phe	missense variant	-	NC_000015.10:g.90790835C>T	ExAC,gnomAD
rs772671554	p.Ile1005Thr	missense variant	-	NC_000015.10:g.90790839T>C	ExAC,TOPMed,gnomAD
RCV000692961	p.Ile1005Met	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790840A>G	ClinVar
rs772671554	p.Ile1005Arg	missense variant	-	NC_000015.10:g.90790839T>G	ExAC,TOPMed,gnomAD
rs201829983	p.Ile1005Val	missense variant	-	NC_000015.10:g.90790838A>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000465861	p.Ile1005Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790838A>G	ClinVar
RCV000672550	p.Met1006Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90790841_90790842del	ClinVar
rs1269752252	p.Met1006Val	missense variant	-	NC_000015.10:g.90790841A>G	TOPMed
NCI-TCGA novel	p.Met1006Ile	missense variant	-	NC_000015.10:g.90790843G>A	NCI-TCGA
RCV000190641	p.Met1006Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90790839_90790840insTATCA	ClinVar
RCV000705545	p.Met1007Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794168G>A	ClinVar
rs1244649224	p.Met1007Ile	missense variant	-	NC_000015.10:g.90794168G>A	TOPMed,gnomAD
RCV000409280	p.Glu1008Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90794169del	ClinVar
RCV000574982	p.Asp1010Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90794175del	ClinVar
rs1459742200	p.Asp1010Val	missense variant	-	NC_000015.10:g.90794176A>T	-
RCV000169440	p.Asp1010Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90794175del	ClinVar
RCV000699029	p.Asp1010Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794176A>T	ClinVar
rs370073229	p.Gly1011Arg	missense variant	-	NC_000015.10:g.90794178G>A	ESP,ExAC,TOPMed,gnomAD
RCV000467591	p.Gly1011Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794178G>A	ClinVar
rs778338724	p.Asn1012Asp	missense variant	-	NC_000015.10:g.90794181A>G	ExAC,gnomAD
rs553767830	p.Asn1012Lys	missense variant	-	NC_000015.10:g.90794183C>G	1000Genomes
rs145022945	p.His1014Arg	missense variant	-	NC_000015.10:g.90794188A>G	ESP,ExAC,TOPMed,gnomAD
RCV000563912	p.His1014Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90794188A>G	ClinVar
RCV000473191	p.Thr1015Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794191C>T	ClinVar
rs202196488	p.Thr1015Arg	missense variant	-	NC_000015.10:g.90794191C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs202196488	p.Thr1015Ile	missense variant	-	NC_000015.10:g.90794191C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000570913	p.Thr1015Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90794191C>T	ClinVar
RCV000115302	p.Thr1015Ile	missense variant	-	NC_000015.10:g.90794191C>T	ClinVar
NCI-TCGA novel	p.Arg1016Ile	missense variant	-	NC_000015.10:g.90794194G>T	NCI-TCGA
NCI-TCGA novel	p.Glu1017Lys	missense variant	-	NC_000015.10:g.90794196G>A	NCI-TCGA
rs769982824	p.His1019Pro	missense variant	-	NC_000015.10:g.90794203A>C	ExAC
rs763020597	p.Phe1020Leu	missense variant	-	NC_000015.10:g.90794207C>A	ExAC,gnomAD
rs374105075	p.Asn1021Asp	missense variant	-	NC_000015.10:g.90794208A>G	ESP,TOPMed
rs369629509	p.Asn1021Ser	missense variant	-	NC_000015.10:g.90794209A>G	ESP,ExAC,TOPMed,gnomAD
RCV000575877	p.Asn1021Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90794208A>G	ClinVar
RCV000557879	p.Asn1021Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794209A>T	ClinVar
RCV000543071	p.Asn1021Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794209A>G	ClinVar
rs369629509	p.Asn1021Ile	missense variant	-	NC_000015.10:g.90794209A>T	ESP,ExAC,TOPMed,gnomAD
RCV000709369	p.Asn1022Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794212A>C	ClinVar
rs201676342	p.Tyr1024Cys	missense variant	-	NC_000015.10:g.90794218A>G	ExAC,TOPMed,gnomAD
RCV000312131	p.Tyr1024Cys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794218A>G	ClinVar
rs766225961	p.Met1026Val	missense variant	-	NC_000015.10:g.90794223A>G	ExAC,gnomAD
rs1300299815	p.Val1027Ile	missense variant	-	NC_000015.10:g.90794226G>A	TOPMed,gnomAD
RCV000628636	p.Val1027Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794226G>A	ClinVar
RCV000567485	p.Val1027Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90794226G>A	ClinVar
RCV000697671	p.His1028Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794230A>G	ClinVar
rs1487267563	p.His1028Arg	missense variant	-	NC_000015.10:g.90794230A>G	TOPMed
rs1487267563	p.His1028Leu	missense variant	-	NC_000015.10:g.90794230A>T	TOPMed
COSM1375448	p.His1028Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90794229C>T	NCI-TCGA Cosmic
rs1397630614	p.Cys1030Tyr	missense variant	-	NC_000015.10:g.90794236G>A	gnomAD
NCI-TCGA novel	p.Cys1030Phe	missense variant	-	NC_000015.10:g.90794236G>T	NCI-TCGA
rs1396000294	p.Glu1031Ter	stop gained	-	NC_000015.10:g.90794238G>T	TOPMed,gnomAD
rs1396000294	p.Glu1031Lys	missense variant	-	NC_000015.10:g.90794238G>A	TOPMed,gnomAD
RCV000703268	p.Glu1031Lys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794238G>A	ClinVar
rs1311585637	p.Asn1032His	missense variant	-	NC_000015.10:g.90794241A>C	gnomAD
rs1060500647	p.Ile1033Thr	missense variant	-	NC_000015.10:g.90794245T>C	-
RCV000467993	p.Ile1033Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794245T>C	ClinVar
rs753652339	p.Thr1034Met	missense variant	-	NC_000015.10:g.90794248C>T	ExAC,gnomAD
RCV000562962	p.Thr1034Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90794248C>T	ClinVar
rs764965627	p.Glu1035Gln	missense variant	-	NC_000015.10:g.90794250G>C	ExAC,gnomAD
rs1288025724	p.Glu1035Gly	missense variant	-	NC_000015.10:g.90794251A>G	TOPMed
NCI-TCGA novel	p.Glu1035Ter	stop gained	-	NC_000015.10:g.90794250G>T	NCI-TCGA
rs137853153	p.Cys1036Phe	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794254G>T	UniProt,dbSNP
VAR_009140	p.Cys1036Phe	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794254G>T	UniProt
rs137853153	p.Cys1036Phe	missense variant	Bloom syndrome (blm)	NC_000015.10:g.90794254G>T	-
RCV000005790	p.Cys1036Phe	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794254G>T	ClinVar
rs990520268	p.Arg1037Lys	missense variant	-	NC_000015.10:g.90794257G>A	TOPMed
RCV000550933	p.Arg1038Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794260G>C	ClinVar
rs1555423425	p.Arg1038Thr	missense variant	-	NC_000015.10:g.90794260G>C	-
rs576199850	p.Ile1039Met	missense variant	-	NC_000015.10:g.90794264A>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000469707	p.Ile1039Met	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794264A>G	ClinVar
rs1224723855	p.Leu1041Phe	missense variant	-	NC_000015.10:g.90794268C>T	gnomAD
rs2229035	p.Ala1043Val	missense variant	-	NC_000015.10:g.90794275C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2229035	p.Ala1043Asp	missense variant	-	NC_000015.10:g.90794275C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000572905	p.Ala1043Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90794275C>A	ClinVar
rs747571272	p.Tyr1044Cys	missense variant	-	NC_000015.10:g.90794278A>G	ExAC,TOPMed,gnomAD
RCV000556376	p.Tyr1044Cys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794278A>G	ClinVar
rs373241803	p.Gly1046Ser	missense variant	-	NC_000015.10:g.90794283G>A	ESP,ExAC,TOPMed,gnomAD
rs781586548	p.Glu1047Lys	missense variant	-	NC_000015.10:g.90794286G>A	ExAC,gnomAD
rs1188753950	p.Gly1049Ter	stop gained	-	NC_000015.10:g.90794292G>T	gnomAD
rs1262516507	p.Asn1051Lys	missense variant	-	NC_000015.10:g.90794300T>A	gnomAD
rs367543029	p.Cys1055Tyr	missense variant	-	NC_000015.10:g.90794311G>A	ExAC,TOPMed,gnomAD
RCV000664476	p.Cys1055Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794310T>C	ClinVar
rs367543029	p.Cys1055Ser	missense variant	-	NC_000015.10:g.90794311G>C	ExAC,TOPMed,gnomAD
rs367543029	p.Cys1055Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794311G>C	UniProt,dbSNP
VAR_006903	p.Cys1055Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794311G>C	UniProt
rs746218707	p.Cys1055Arg	missense variant	-	NC_000015.10:g.90794310T>C	ExAC,TOPMed,gnomAD
RCV000034904	p.Cys1055Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794311G>C	ClinVar
RCV000701463	p.Lys1056Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794314A>G	ClinVar
rs1465842377	p.Lys1056Arg	missense variant	-	NC_000015.10:g.90794314A>G	gnomAD
rs1351087442	p.His1058Asp	missense variant	-	NC_000015.10:g.90794319C>G	TOPMed
NCI-TCGA novel	p.His1058Arg	missense variant	-	NC_000015.10:g.90794320A>G	NCI-TCGA
rs775698524	p.Pro1059Leu	missense variant	-	NC_000015.10:g.90794323C>T	ExAC,gnomAD
rs1377802274	p.Asp1060Val	missense variant	-	NC_000015.10:g.90794326A>T	gnomAD
rs768806041	p.Ser1062Ala	missense variant	-	NC_000015.10:g.90794331T>G	ExAC,gnomAD
rs367543032	p.Asp1064Gly	missense variant	-	NC_000015.10:g.90794338A>G	ExAC,TOPMed,gnomAD
rs367543032	p.Asp1064Val	missense variant	-	NC_000015.10:g.90794338A>T	ExAC,TOPMed,gnomAD
RCV000534857	p.Asp1064Gly	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794338A>G	ClinVar
rs587779885	p.Cys1067Tyr	missense variant	-	NC_000015.10:g.90794347G>A	ExAC,TOPMed,gnomAD
RCV000115304	p.Cys1067Tyr	missense variant	-	NC_000015.10:g.90794347G>A	ClinVar
rs794727180	p.Asp1071Tyr	missense variant	-	NC_000015.10:g.90798190G>T	gnomAD
rs794727180	p.Asp1071Asn	missense variant	-	NC_000015.10:g.90798190G>A	gnomAD
RCV000175117	p.Asp1071Tyr	missense variant	-	NC_000015.10:g.90798190G>T	ClinVar
rs144021705	p.Thr1074Ile	missense variant	-	NC_000015.10:g.90798200C>T	ESP,ExAC,TOPMed,gnomAD
rs749559270	p.Arg1075Lys	missense variant	-	NC_000015.10:g.90798203G>A	ExAC,gnomAD
COSM4605113	p.Arg1075Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90798203G>C	NCI-TCGA Cosmic
rs1306187879	p.Asp1076Asn	missense variant	-	NC_000015.10:g.90798205G>A	gnomAD
RCV000666852	p.Asp1076Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90798201_90798202del	ClinVar
COSM6078037	p.Asp1076Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90798206A>G	NCI-TCGA Cosmic
RCV000551724	p.Val1077Met	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798208G>A	ClinVar
rs779096973	p.Val1077Met	missense variant	-	NC_000015.10:g.90798208G>A	ExAC,TOPMed,gnomAD
rs748158921	p.Val1077Ala	missense variant	-	NC_000015.10:g.90798209T>C	ExAC,gnomAD
rs771055974	p.Asp1079His	missense variant	-	NC_000015.10:g.90798214G>C	ExAC,gnomAD
RCV000475328	p.Asp1079Gly	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798215A>G	ClinVar
rs776714693	p.Asp1079Gly	missense variant	-	NC_000015.10:g.90798215A>G	ExAC,gnomAD
COSM1301579	p.Asp1079Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90798214G>A	NCI-TCGA Cosmic
rs771767745	p.Asp1080Asn	missense variant	-	NC_000015.10:g.90798217G>A	ExAC,TOPMed,gnomAD
RCV000628676	p.Asp1080His	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798217G>C	ClinVar
rs775383361	p.Asp1080Val	missense variant	-	NC_000015.10:g.90798218A>T	ExAC,gnomAD
rs771767745	p.Asp1080His	missense variant	-	NC_000015.10:g.90798217G>C	ExAC,TOPMed,gnomAD
RCV000228367	p.Asp1080Asn	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798217G>A	ClinVar
rs762716289	p.Val1081Glu	missense variant	-	NC_000015.10:g.90798221T>A	ExAC,TOPMed,gnomAD
RCV000232488	p.Val1081Glu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798221T>A	ClinVar
rs1421330208	p.Ile1084Val	missense variant	-	NC_000015.10:g.90798229A>G	gnomAD
rs761235042	p.Val1085Leu	missense variant	-	NC_000015.10:g.90798232G>T	ExAC,gnomAD
RCV000525613	p.Phe1087Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90798240del	ClinVar
COSM256403	p.Phe1087Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90798239T>G	NCI-TCGA Cosmic
rs934966838	p.Val1088Leu	missense variant	-	NC_000015.10:g.90798241G>C	gnomAD
rs934966838	p.Val1088Ile	missense variant	-	NC_000015.10:g.90798241G>A	gnomAD
NCI-TCGA novel	p.Val1088Phe	missense variant	-	NC_000015.10:g.90798241G>T	NCI-TCGA
NCI-TCGA novel	p.Val1088LeuPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.90798237_90798238insTT	NCI-TCGA
rs1406087403	p.Gln1089Ter	stop gained	-	NC_000015.10:g.90798244C>T	TOPMed
rs750954124	p.His1091Arg	missense variant	-	NC_000015.10:g.90798251A>G	ExAC,gnomAD
RCV000226325	p.His1091Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798251A>G	ClinVar
rs766959096	p.His1091Tyr	missense variant	-	NC_000015.10:g.90798250C>T	ExAC,gnomAD
RCV000499533	p.His1091Arg	missense variant	-	NC_000015.10:g.90798251A>G	ClinVar
rs756576705	p.Ser1092Arg	missense variant	-	NC_000015.10:g.90798255T>A	ExAC,gnomAD
RCV000120229	p.Ser1093Leu	missense variant	-	NC_000015.10:g.90798257C>T	ClinVar
rs367543017	p.Ser1093Leu	missense variant	-	NC_000015.10:g.90798257C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1093Ter	stop gained	-	NC_000015.10:g.90798257C>A	NCI-TCGA
rs367543017	p.Ser1093Ter	stop gained	-	NC_000015.10:g.90798257C>G	ExAC,TOPMed,gnomAD
rs1472603091	p.Ser1094Ter	stop gained	-	NC_000015.10:g.90798260C>A	TOPMed
rs754127572	p.Gln1095Lys	missense variant	-	NC_000015.10:g.90798262C>A	ExAC,gnomAD
RCV000458942	p.Gly1096Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798266G>T	ClinVar
rs1334208387	p.Gly1096Arg	missense variant	-	NC_000015.10:g.90798265G>A	TOPMed,gnomAD
rs893352310	p.Gly1096Val	missense variant	-	NC_000015.10:g.90798266G>T	TOPMed,gnomAD
RCV000550356	p.Gly1096Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798265G>A	ClinVar
rs912777535	p.Arg1098Lys	missense variant	-	NC_000015.10:g.90798272G>A	TOPMed,gnomAD
rs755282763	p.Ile1100Arg	missense variant	-	NC_000015.10:g.90798278T>G	ExAC,gnomAD
rs1248013291	p.Lys1101Glu	missense variant	-	NC_000015.10:g.90798280A>G	TOPMed
rs1204277225	p.His1102Gln	missense variant	-	NC_000015.10:g.90798285T>A	gnomAD
rs1214857956	p.His1102Tyr	missense variant	-	NC_000015.10:g.90798283C>T	TOPMed
RCV000411218	p.His1102Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90798284_90798285del	ClinVar
rs778994524	p.His1102Arg	missense variant	-	NC_000015.10:g.90798284A>G	ExAC,TOPMed,gnomAD
rs1481919924	p.Val1103Ala	missense variant	-	NC_000015.10:g.90798287T>C	gnomAD
rs748331529	p.Val1103Ile	missense variant	-	NC_000015.10:g.90798286G>A	ExAC,gnomAD
RCV000229039	p.Gly1104Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798289G>A	ClinVar
rs141269464	p.Gly1104Ser	missense variant	-	NC_000015.10:g.90798289G>A	ESP,ExAC,TOPMed,gnomAD
RCV000528775	p.Gly1104Asp	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798290G>A	ClinVar
rs150784889	p.Gly1104Asp	missense variant	-	NC_000015.10:g.90798290G>A	ESP,ExAC,TOPMed,gnomAD
rs369142038	p.Pro1105Ala	missense variant	-	NC_000015.10:g.90798292C>G	ESP,TOPMed
rs369142038	p.Pro1105Ser	missense variant	-	NC_000015.10:g.90798292C>T	ESP,TOPMed
rs769834593	p.Ser1106Cys	missense variant	-	NC_000015.10:g.90798296C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1108Thr	missense variant	-	NC_000015.10:g.90798302G>C	NCI-TCGA
rs775415040	p.Phe1109Ser	missense variant	-	NC_000015.10:g.90798305T>C	ExAC,gnomAD
rs749033343	p.Thr1110Ala	missense variant	-	NC_000015.10:g.90798307A>G	ExAC,gnomAD
rs1169507483	p.Met1111Val	missense variant	-	NC_000015.10:g.90798310A>G	TOPMed,gnomAD
rs1352520577	p.Asn1112His	missense variant	-	NC_000015.10:g.90798313A>C	gnomAD
RCV000538795	p.Leu1114Pro	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798320T>C	ClinVar
rs1444338168	p.Leu1114Pro	missense variant	-	NC_000015.10:g.90798320T>C	gnomAD
rs768432133	p.Val1115Ala	missense variant	-	NC_000015.10:g.90798323T>C	ExAC,gnomAD
RCV000466894	p.Asp1116His	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798325G>C	ClinVar
rs936749145	p.Asp1116Asn	missense variant	-	NC_000015.10:g.90798325G>A	TOPMed
rs936749145	p.Asp1116His	missense variant	-	NC_000015.10:g.90798325G>C	TOPMed
RCV000628630	p.Phe1118Leu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798333C>A	ClinVar
rs1351493073	p.Phe1118Leu	missense variant	-	NC_000015.10:g.90798333C>A	TOPMed
rs139773499	p.Gly1120Arg	missense variant	-	NC_000015.10:g.90798337G>A	ESP,ExAC,TOPMed,gnomAD
rs753072653	p.Gly1120Glu	missense variant	-	NC_000015.10:g.90803521G>A	ExAC,gnomAD
RCV000553710	p.Gly1120Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798337G>A	ClinVar
rs758753168	p.Ser1121Asn	missense variant	-	NC_000015.10:g.90803524G>A	ExAC,gnomAD
rs758753168	p.Ser1121Ile	missense variant	-	NC_000015.10:g.90803524G>T	ExAC,gnomAD
rs374557999	p.Lys1122Glu	missense variant	-	NC_000015.10:g.90803526A>G	ESP,ExAC
rs1175406197	p.Lys1122Thr	missense variant	-	NC_000015.10:g.90803527A>C	gnomAD
rs751765688	p.Ala1124Val	missense variant	-	NC_000015.10:g.90803533C>T	ExAC,TOPMed,gnomAD
rs751765688	p.Ala1124Gly	missense variant	-	NC_000015.10:g.90803533C>G	ExAC,TOPMed,gnomAD
COSM434545	p.Gln1127His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90803543G>T	NCI-TCGA Cosmic
rs375841213	p.Gly1129Val	missense variant	-	NC_000015.10:g.90803548G>T	gnomAD
rs375841213	p.Gly1129Asp	missense variant	-	NC_000015.10:g.90803548G>A	gnomAD
rs781287681	p.Gly1129Arg	missense variant	-	NC_000015.10:g.90803547G>C	ExAC,gnomAD
RCV000527258	p.Gly1129Asp	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803548G>A	ClinVar
rs1303187650	p.Phe1131Ser	missense variant	-	NC_000015.10:g.90803554T>C	gnomAD
rs754915610	p.Gly1132Val	missense variant	-	NC_000015.10:g.90803557G>T	ExAC,gnomAD
rs749219353	p.Gly1132Arg	missense variant	-	NC_000015.10:g.90803556G>C	ExAC,gnomAD
RCV000542140	p.Lys1133Glu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803559A>G	ClinVar
RCV000115306	p.Lys1133Glu	missense variant	-	NC_000015.10:g.90803559A>G	ClinVar
rs145027663	p.Lys1133Glu	missense variant	-	NC_000015.10:g.90803559A>G	ESP,ExAC,TOPMed,gnomAD
rs1555424286	p.Gly1134Glu	missense variant	-	NC_000015.10:g.90803563G>A	-
rs1057516774	p.Gly1134Ter	stop gained	-	NC_000015.10:g.90803562G>T	-
RCV000412132	p.Gly1134Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90803562G>T	ClinVar
RCV000628684	p.Gly1134Glu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803563G>A	ClinVar
rs771776126	p.Arg1139Pro	missense variant	-	NC_000015.10:g.90803578G>C	ExAC,TOPMed,gnomAD
RCV000628686	p.Arg1139Gln	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803578G>A	ClinVar
rs587783037	p.Arg1139Ter	stop gained	-	NC_000015.10:g.90803577C>T	ExAC,TOPMed,gnomAD
RCV000475513	p.Arg1139Pro	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803578G>C	ClinVar
RCV000708668	p.Arg1139Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90803578G>C	ClinVar
rs771776126	p.Arg1139Gln	missense variant	-	NC_000015.10:g.90803578G>A	ExAC,TOPMed,gnomAD
RCV000144576	p.Arg1139Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90803577C>T	ClinVar
rs746602812	p.His1140Tyr	missense variant	-	NC_000015.10:g.90803580C>T	ExAC,TOPMed,gnomAD
RCV000327819	p.His1140Tyr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803580C>T	ClinVar
COSM471248	p.His1140Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90803582C>A	NCI-TCGA Cosmic
rs770370129	p.Asn1141Ser	missense variant	-	NC_000015.10:g.90803584A>G	ExAC,gnomAD
RCV000475273	p.Glu1143Lys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803589G>A	ClinVar
rs140387675	p.Glu1143Lys	missense variant	-	NC_000015.10:g.90803589G>A	ESP,ExAC,TOPMed,gnomAD
RCV000566047	p.Glu1143Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90803589G>A	ClinVar
RCV000115307	p.Glu1143Lys	missense variant	-	NC_000015.10:g.90803589G>A	ClinVar
COSM274139	p.Arg1144Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90803593G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu1145Arg	missense variant	-	NC_000015.10:g.90803596T>G	NCI-TCGA
rs1407593661	p.Phe1146Ser	missense variant	-	NC_000015.10:g.90803599T>C	TOPMed
rs770311534	p.Lys1147Ter	stop gained	-	NC_000015.10:g.90803601A>T	ExAC,TOPMed
RCV000657840	p.Lys1148Ter	nonsense	-	NC_000015.10:g.90803607del	ClinVar
NCI-TCGA novel	p.Leu1149Met	missense variant	-	NC_000015.10:g.90803607C>A	NCI-TCGA
RCV000574403	p.Ile1150Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90803611T>C	ClinVar
rs1378138456	p.Ile1150Thr	missense variant	-	NC_000015.10:g.90803611T>C	TOPMed,gnomAD
RCV000686504	p.Ile1150Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803611T>C	ClinVar
rs1469527799	p.Leu1151Phe	missense variant	-	NC_000015.10:g.90803613C>T	gnomAD
rs1156919580	p.Asp1152Tyr	missense variant	-	NC_000015.10:g.90803616G>T	gnomAD
rs776065910	p.Lys1153Asn	missense variant	-	NC_000015.10:g.90803621G>T	ExAC,TOPMed,gnomAD
rs1458000028	p.Asp1156Asn	missense variant	-	NC_000015.10:g.90803628G>A	gnomAD
NCI-TCGA novel	p.Glu1157Lys	missense variant	-	NC_000015.10:g.90803631G>A	NCI-TCGA
RCV000691225	p.Asp1158Asn	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803634G>A	ClinVar
COSM4912699	p.Asp1158Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90803635A>G	NCI-TCGA Cosmic
RCV000034910	p.Leu1159Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90803637_90803638del	ClinVar
rs752389778	p.Tyr1160His	missense variant	-	NC_000015.10:g.90803640T>C	ExAC,TOPMed,gnomAD
rs1237460907	p.Asn1162Ser	missense variant	-	NC_000015.10:g.90803647A>G	TOPMed,gnomAD
RCV000552185	p.Asn1162Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803647A>G	ClinVar
rs751855048	p.Asn1164Ser	missense variant	-	NC_000015.10:g.90803653A>G	ExAC,gnomAD
rs371774802	p.Gln1166Arg	missense variant	-	NC_000015.10:g.90803659A>G	ESP,ExAC,gnomAD
rs371774802	p.Gln1166Leu	missense variant	-	NC_000015.10:g.90803659A>T	ESP,ExAC,gnomAD
RCV000797814	p.Gln1166Leu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803659A>T	ClinVar
RCV000570286	p.Gln1166Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90803659A>T	ClinVar
rs987150263	p.Ala1167Gly	missense variant	-	NC_000015.10:g.90803662C>G	TOPMed
rs987150263	p.Ala1167Glu	missense variant	-	NC_000015.10:g.90803662C>A	TOPMed
rs778901209	p.Ala1167Thr	missense variant	-	NC_000015.10:g.90803661G>A	ExAC,gnomAD
RCV000628685	p.Ala1167Gly	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803662C>G	ClinVar
RCV000665331	p.Ala1167Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90803661del	ClinVar
RCV000628682	p.Ala1169Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803667G>A	ClinVar
rs777492549	p.Ala1169Thr	missense variant	-	NC_000015.10:g.90803667G>A	ExAC,TOPMed,gnomAD
rs746692894	p.Tyr1170Phe	missense variant	-	NC_000015.10:g.90803671A>T	ExAC,gnomAD
rs746692894	p.Tyr1170Ser	missense variant	-	NC_000015.10:g.90803671A>C	ExAC,gnomAD
RCV000674492	p.Tyr1170Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90803670del	ClinVar
rs770585247	p.Val1171Met	missense variant	-	NC_000015.10:g.90803673G>A	ExAC,gnomAD
RCV000628629	p.Val1171Met	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803673G>A	ClinVar
rs1455140376	p.Met1172Thr	missense variant	-	NC_000015.10:g.90803677T>C	gnomAD
rs745380387	p.Met1172Leu	missense variant	-	NC_000015.10:g.90803676A>C	ExAC,TOPMed,gnomAD
rs745380387	p.Met1172Val	missense variant	-	NC_000015.10:g.90803676A>G	ExAC,TOPMed,gnomAD
rs776156059	p.Gly1174Arg	missense variant	-	NC_000015.10:g.90803682G>A	ExAC,gnomAD
RCV000567776	p.Thr1179Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90803698C>T	ClinVar
rs1555424324	p.Thr1179Ile	missense variant	-	NC_000015.10:g.90803698C>T	-
rs1344786638	p.Thr1179Ala	missense variant	-	NC_000015.10:g.90803697A>G	TOPMed
rs1324479116	p.Val1180Ile	missense variant	-	NC_000015.10:g.90803700G>A	TOPMed
rs774828730	p.Val1180Ala	missense variant	-	NC_000015.10:g.90803701T>C	ExAC,gnomAD
rs767771169	p.Asn1182Thr	missense variant	-	NC_000015.10:g.90803707A>C	ExAC,gnomAD
rs1463025227	p.Asn1184His	missense variant	-	NC_000015.10:g.90803712A>C	TOPMed
rs750532596	p.Lys1186Glu	missense variant	-	NC_000015.10:g.90803718A>G	ExAC,TOPMed,gnomAD
rs547814390	p.Val1187Ile	missense variant	-	NC_000015.10:g.90804167G>A	1000Genomes,ExAC,gnomAD
COSM966551	p.Val1187Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90804167G>T	NCI-TCGA Cosmic
rs899745787	p.Asp1188Gly	missense variant	-	NC_000015.10:g.90804171A>G	TOPMed
RCV000672249	p.Phe1189Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90804174_90804175del	ClinVar
RCV000704332	p.Met1190Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90804177delinsAA	ClinVar
rs764005828	p.Met1190Val	missense variant	-	NC_000015.10:g.90804176A>G	ExAC,gnomAD
rs1555424373	p.Met1190Thr	missense variant	-	NC_000015.10:g.90804177T>C	-
RCV000571162	p.Met1190Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90804177T>C	ClinVar
RCV000628663	p.Met1190Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90804177T>C	ClinVar
NCI-TCGA novel	p.Glu1193Gln	missense variant	-	NC_000015.10:g.90804185G>C	NCI-TCGA
NCI-TCGA novel	p.Asn1194His	missense variant	-	NC_000015.10:g.90804188A>C	NCI-TCGA
rs1426895981	p.Ser1195Thr	missense variant	-	NC_000015.10:g.90804191T>A	gnomAD
RCV000666859	p.Ser1197Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90804197del	ClinVar
RCV000563035	p.Val1198Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90804200G>A	ClinVar
rs142928725	p.Val1198Met	missense variant	-	NC_000015.10:g.90804200G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000471443	p.Val1198Met	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90804200G>A	ClinVar
RCV000115308	p.Val1198Met	missense variant	-	NC_000015.10:g.90804200G>A	ClinVar
RCV000575453	p.Ala1203Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90804216C>T	ClinVar
rs1335563585	p.Ala1203Pro	missense variant	-	NC_000015.10:g.90804215G>C	TOPMed
rs757088548	p.Ala1203Val	missense variant	-	NC_000015.10:g.90804216C>T	ExAC,gnomAD
RCV000686959	p.Ala1203Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90804216C>T	ClinVar
rs1231990786	p.Leu1204Phe	missense variant	-	NC_000015.10:g.90804220A>T	TOPMed
rs28385141	p.Val1205Ile	missense variant	-	NC_000015.10:g.90804221G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000226406	p.Val1205Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90804221G>A	ClinVar
rs1319362226	p.Ala1206Glu	missense variant	-	NC_000015.10:g.90804225C>A	TOPMed
RCV000564629	p.Ser1209Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90804233T>A	ClinVar
rs1801256	p.Ser1209Thr	missense variant	-	NC_000015.10:g.90804233T>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1210His	missense variant	-	NC_000015.10:g.90804238G>C	NCI-TCGA
rs28385142	p.Glu1213Lys	missense variant	-	NC_000015.10:g.90804245G>A	TOPMed,gnomAD
RCV000569262	p.Glu1213Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90804245G>A	ClinVar
RCV000727387	p.Glu1213Lys	missense variant	-	NC_000015.10:g.90804245G>A	ClinVar
RCV000412256	p.Glu1213Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90804246del	ClinVar
rs377253486	p.Met1214Ile	missense variant	-	NC_000015.10:g.90804250G>A	ESP,ExAC,TOPMed,gnomAD
RCV000628672	p.Met1214Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90804250G>A	ClinVar
rs1025108238	p.Val1215Phe	missense variant	-	NC_000015.10:g.90804251G>T	TOPMed
rs748798772	p.Lys1216Arg	missense variant	-	NC_000015.10:g.90804255A>G	ExAC,gnomAD
rs587779887	p.Lys1217Asn	missense variant	-	NC_000015.10:g.90804259A>T	ExAC
RCV000115310	p.Lys1217Asn	missense variant	-	NC_000015.10:g.90804259A>T	ClinVar
RCV000700971	p.Lys1217Asn	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90804259A>T	ClinVar
COSM1375449	p.Lys1217AsnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.90804254A>-	NCI-TCGA Cosmic
rs960821931	p.Leu1219Val	missense variant	-	NC_000015.10:g.90804263C>G	TOPMed,gnomAD
RCV000688281	p.Gly1220Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90804266G>A	ClinVar
NCI-TCGA novel	p.Gly1220ProPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.90804264_90804265insACCTTTA	NCI-TCGA
rs772506214	p.Thr1223Arg	missense variant	-	NC_000015.10:g.90804276C>G	ExAC,gnomAD
RCV000410178	p.Thr1223Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90804275dup	ClinVar
NCI-TCGA novel	p.Glu1224Ter	stop gained	-	NC_000015.10:g.90804278G>T	NCI-TCGA
rs1555424395	p.Leu1229Val	missense variant	-	NC_000015.10:g.90804293C>G	-
RCV000628671	p.Leu1229Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90804293C>G	ClinVar
RCV000670866	p.Lys1231Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90804300_90804301del	ClinVar
rs1260166264	p.Phe1233Ile	missense variant	-	NC_000015.10:g.90804305T>A	gnomAD
RCV000569151	p.Thr1243Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90804336C>T	ClinVar
rs972145772	p.Thr1243Ile	missense variant	-	NC_000015.10:g.90804336C>T	TOPMed
rs1249106324	p.Val1244Ile	missense variant	-	NC_000015.10:g.90804338G>A	gnomAD
rs771117920	p.Val1244Gly	missense variant	-	NC_000015.10:g.90804339T>G	ExAC,gnomAD
rs1555424403	p.Thr1245Ser	missense variant	-	NC_000015.10:g.90804341A>T	-
RCV000545255	p.Thr1245Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90804341A>T	ClinVar
rs1555424404	p.Lys1248Met	missense variant	-	NC_000015.10:g.90804351A>T	-
RCV000555534	p.Lys1248Met	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90804351A>T	ClinVar
rs1250193368	p.Leu1249Phe	missense variant	-	NC_000015.10:g.90804353C>T	gnomAD
RCV000670350	p.Glu1251Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90809138del	ClinVar
rs587779888	p.Glu1251Gln	missense variant	-	NC_000015.10:g.90804359G>C	ExAC,gnomAD
RCV000115312	p.Glu1251Gln	missense variant	-	NC_000015.10:g.90804359G>C	ClinVar
NCI-TCGA novel	p.Ser1252Phe	missense variant	-	NC_000015.10:g.90809140C>T	NCI-TCGA
COSM3420718	p.Ser1252Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90809140C>A	NCI-TCGA Cosmic
rs1249288071	p.Leu1253Val	missense variant	-	NC_000015.10:g.90809142T>G	gnomAD
rs781396294	p.Ser1254Ala	missense variant	-	NC_000015.10:g.90809145T>G	ExAC,TOPMed,gnomAD
COSM3505423	p.Asp1256Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90809153T>G	NCI-TCGA Cosmic
rs144964365	p.Pro1257Ala	missense variant	-	NC_000015.10:g.90809154C>G	ESP
rs144964365	p.Pro1257Ser	missense variant	-	NC_000015.10:g.90809154C>T	ESP
rs372134818	p.Pro1257Leu	missense variant	-	NC_000015.10:g.90809155C>T	ESP,ExAC,TOPMed,gnomAD
rs1369324978	p.Glu1258Ala	missense variant	-	NC_000015.10:g.90809158A>C	TOPMed
NCI-TCGA novel	p.Glu1258Asp	missense variant	-	NC_000015.10:g.90809159G>T	NCI-TCGA
NCI-TCGA novel	p.Glu1258Lys	missense variant	-	NC_000015.10:g.90809157G>A	NCI-TCGA
rs769895470	p.Val1259Ala	missense variant	-	NC_000015.10:g.90809161T>C	ExAC,gnomAD
RCV000692408	p.Leu1261Phe	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90809166C>T	ClinVar
rs760554566	p.Ala1276Glu	missense variant	-	NC_000015.10:g.90809212C>A	ExAC,gnomAD
rs760554566	p.Ala1276Val	missense variant	-	NC_000015.10:g.90809212C>T	ExAC,gnomAD
RCV000570830	p.Ala1276Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90809212C>T	ClinVar
RCV000224500	p.Ala1276Val	missense variant	-	NC_000015.10:g.90809212C>T	ClinVar
RCV000324132	p.Ala1276Glu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90809212C>A	ClinVar
RCV000704807	p.Ala1276Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90809211G>A	ClinVar
rs753563391	p.Val1278Met	missense variant	-	NC_000015.10:g.90809217G>A	ExAC,gnomAD
COSM69826	p.Ile1279Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90809220A>G	NCI-TCGA Cosmic
COSM434546	p.Ser1280Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90809224C>T	NCI-TCGA Cosmic
rs1018540956	p.Val1281Leu	missense variant	-	NC_000015.10:g.90809226G>C	TOPMed
rs367543031	p.Gln1283Ter	stop gained	-	NC_000015.10:g.90809232C>T	gnomAD
RCV000034915	p.Gln1283Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90809232C>T	ClinVar
rs1057516728	p.Tyr1285Ter	stop gained	-	NC_000015.10:g.90809240C>A	TOPMed
RCV000409908	p.Tyr1285Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90809240C>A	ClinVar
rs1423327905	p.Ser1286Tyr	missense variant	-	NC_000015.10:g.90809242C>A	TOPMed
rs1060500645	p.Thr1289Ser	missense variant	-	NC_000015.10:g.90809250A>T	-
RCV000467518	p.Thr1289Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90809250A>T	ClinVar
rs1031421025	p.Ser1290Leu	missense variant	-	NC_000015.10:g.90809254C>T	TOPMed,gnomAD
RCV000534742	p.Ser1290Leu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90809254C>T	ClinVar
rs1234718913	p.Pro1291Thr	missense variant	-	NC_000015.10:g.90809256C>A	TOPMed
rs373003917	p.Pro1291Arg	missense variant	-	NC_000015.10:g.90809257C>G	ESP,ExAC,TOPMed,gnomAD
RCV000628654	p.Pro1291Leu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90809257C>T	ClinVar
rs373003917	p.Pro1291Leu	missense variant	-	NC_000015.10:g.90809257C>T	ESP,ExAC,TOPMed,gnomAD
rs757641454	p.Ala1292Thr	missense variant	-	NC_000015.10:g.90809259G>A	ExAC,TOPMed,gnomAD
RCV000701067	p.Ala1292Asp	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811205C>A	ClinVar
rs746979958	p.Glu1293Gly	missense variant	-	NC_000015.10:g.90811208A>G	ExAC,TOPMed,gnomAD
rs560132774	p.Asp1294His	missense variant	-	NC_000015.10:g.90811210G>C	1000Genomes,ExAC,gnomAD
rs1344988437	p.Ser1295Gly	missense variant	-	NC_000015.10:g.90811213A>G	gnomAD
RCV000670228	p.Pro1297Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90811220del	ClinVar
rs587779889	p.Gly1298Arg	missense variant	-	NC_000015.10:g.90811222G>A	ExAC,TOPMed,gnomAD
RCV000561783	p.Gly1298Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90811222G>A	ClinVar
rs769564626	p.Ser1300Arg	missense variant	-	NC_000015.10:g.90811230C>G	ExAC,gnomAD
RCV000671125	p.Leu1301Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90811231del	ClinVar
rs763554007	p.Ser1304Asn	missense variant	-	NC_000015.10:g.90811241G>A	ExAC
RCV000675024	p.Gly1306Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90811247del	ClinVar
rs773830810	p.Pro1307Ser	missense variant	-	NC_000015.10:g.90811249C>T	ExAC,gnomAD
RCV000628625	p.Gly1308Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811252G>A	ClinVar
RCV000456520	p.Gly1308Glu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811253G>A	ClinVar
rs768010078	p.Gly1308Arg	missense variant	-	NC_000015.10:g.90811252G>C	ExAC,TOPMed,gnomAD
rs768010078	p.Gly1308Arg	missense variant	-	NC_000015.10:g.90811252G>A	ExAC,TOPMed,gnomAD
rs750865930	p.Gly1308Glu	missense variant	-	NC_000015.10:g.90811253G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly1308ArgPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.90811252_90811279GGAAGAAGTGCCGCTGAGGAGCTCGACG>-	NCI-TCGA
rs1280067298	p.Arg1309Thr	missense variant	-	NC_000015.10:g.90811256G>C	gnomAD
RCV000693843	p.Arg1309Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811256G>C	ClinVar
RCV000265527	p.Ser1310Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811260T>G	ClinVar
rs886051552	p.Ser1310Arg	missense variant	-	NC_000015.10:g.90811260T>G	gnomAD
rs527291754	p.Ala1312Thr	missense variant	-	NC_000015.10:g.90811264G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000559638	p.Ala1312Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811264G>A	ClinVar
RCV000115314	p.Ala1312Thr	missense variant	-	NC_000015.10:g.90811264G>A	ClinVar
RCV000664850	p.Glu1313Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90811267G>T	ClinVar
rs754033839	p.Glu1313Ala	missense variant	-	NC_000015.10:g.90811268A>C	ExAC,gnomAD
rs1555425074	p.Glu1313Ter	stop gained	-	NC_000015.10:g.90811267G>T	-
NCI-TCGA novel	p.Glu1313Asp	missense variant	-	NC_000015.10:g.90811269G>T	NCI-TCGA
rs959925706	p.Leu1315Phe	missense variant	-	NC_000015.10:g.90811273C>T	gnomAD
rs1271612269	p.Leu1315Pro	missense variant	-	NC_000015.10:g.90811274T>C	TOPMed
RCV000695601	p.Leu1315Pro	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811274_90811275delinsCT	ClinVar
rs779179608	p.Asp1316Asn	missense variant	-	NC_000015.10:g.90811276G>A	ExAC,gnomAD
rs375896520	p.Asp1316Glu	missense variant	-	NC_000015.10:g.90811278C>A	ESP,ExAC,TOPMed,gnomAD
rs730880251	p.Glu1317Lys	missense variant	-	NC_000015.10:g.90811279G>A	ExAC,TOPMed,gnomAD
RCV000157586	p.Glu1317Lys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811279G>A	ClinVar
RCV000561536	p.Glu1317Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90811279G>A	ClinVar
RCV000669899	p.Ile1319Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90811286del	ClinVar
COSM3817064	p.Pro1320Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90811288C>T	NCI-TCGA Cosmic
rs7167216	p.Val1321Ile	missense variant	-	NC_000015.10:g.90811291G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000281046	p.Val1321Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811291G>A	ClinVar
RCV000684874	p.Val1321Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90811290dup	ClinVar
rs1362006078	p.Ser1322Phe	missense variant	-	NC_000015.10:g.90811295C>T	gnomAD
rs1439192800	p.Ser1323Pro	missense variant	-	NC_000015.10:g.90811297T>C	gnomAD
rs1276145488	p.Ser1323Phe	missense variant	-	NC_000015.10:g.90811298C>T	gnomAD
RCV000708669	p.His1324Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90811300C>T	ClinVar
rs748943489	p.His1324Tyr	missense variant	-	NC_000015.10:g.90811300C>T	ExAC,TOPMed,gnomAD
RCV000548110	p.His1324Tyr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811300C>T	ClinVar
RCV000526229	p.Phe1326Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811306T>A	ClinVar
rs1222912167	p.Phe1326Ile	missense variant	-	NC_000015.10:g.90811306T>A	TOPMed,gnomAD
rs1330693236	p.Ser1328Asn	missense variant	-	NC_000015.10:g.90811313G>A	gnomAD
rs190652985	p.Lys1329Glu	missense variant	-	NC_000015.10:g.90811315A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1173538137	p.Thr1330Pro	missense variant	-	NC_000015.10:g.90811318A>C	TOPMed
RCV000115315	p.Arg1331Gly	missense variant	-	NC_000015.10:g.90811321A>G	ClinVar
RCV000471638	p.Arg1331Lys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811322G>A	ClinVar
rs150631940	p.Arg1331Gly	missense variant	-	NC_000015.10:g.90811321A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000536540	p.Arg1331Gly	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811321A>G	ClinVar
rs1060500648	p.Arg1331Lys	missense variant	-	NC_000015.10:g.90811322G>A	-
RCV000412153	p.Arg1334Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90811330_90811334del	ClinVar
COSM1375451	p.Lys1338Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90811344G>T	NCI-TCGA Cosmic
rs761320085	p.Met1339Thr	missense variant	-	NC_000015.10:g.90811346T>C	ExAC,TOPMed,gnomAD
rs1247422719	p.Met1339Ile	missense variant	-	NC_000015.10:g.90811347G>C	TOPMed,gnomAD
rs1247422719	p.Met1339Ile	missense variant	-	NC_000015.10:g.90811347G>A	TOPMed,gnomAD
rs766959130	p.Pro1340Leu	missense variant	-	NC_000015.10:g.90811349C>T	ExAC,gnomAD
RCV000525035	p.Pro1340Leu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811349C>T	ClinVar
COSM966555	p.Pro1340Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90811348C>T	NCI-TCGA Cosmic
COSM4057913	p.Pro1340Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90811348C>A	NCI-TCGA Cosmic
rs201149857	p.Ala1341Val	missense variant	-	NC_000015.10:g.90811352C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000628645	p.Ala1341Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811352C>T	ClinVar
rs761200006	p.Ser1342Phe	missense variant	-	NC_000015.10:g.90811355C>T	ExAC,gnomAD
rs754205010	p.Arg1344Trp	missense variant	-	NC_000015.10:g.90811360A>T	ExAC,gnomAD
RCV000669071	p.Arg1347Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90811369_90811378del	ClinVar
NCI-TCGA novel	p.Arg1347Lys	missense variant	-	NC_000015.10:g.90811370G>A	NCI-TCGA
COSM434547	p.Ser1352Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90811385C>T	NCI-TCGA Cosmic
rs1060500646	p.Ser1353Arg	missense variant	-	NC_000015.10:g.90811389T>A	TOPMed,gnomAD
RCV000472912	p.Ser1353Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811389T>A	ClinVar
rs1210439019	p.Gly1354Ser	missense variant	-	NC_000015.10:g.90811390G>A	TOPMed
rs891751726	p.Gly1354Ala	missense variant	-	NC_000015.10:g.90811391G>C	TOPMed,gnomAD
RCV000473259	p.Gly1354Ala	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811391G>C	ClinVar
rs1210439019	p.Gly1354Cys	missense variant	-	NC_000015.10:g.90811390G>T	TOPMed
RCV000568146	p.Lys1356Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90811397A>G	ClinVar
rs945181516	p.Lys1356Arg	missense variant	-	NC_000015.10:g.90811397A>G	TOPMed,gnomAD
RCV000115317	p.Lys1356Asn	missense variant	-	NC_000015.10:g.90811398G>C	ClinVar
rs587779890	p.Lys1356Asn	missense variant	-	NC_000015.10:g.90811398G>C	TOPMed
rs587778103	p.Ala1357Pro	missense variant	-	NC_000015.10:g.90811399G>C	-
RCV000120233	p.Ala1357Pro	missense variant	-	NC_000015.10:g.90811399G>C	ClinVar
rs1308799871	p.Gly1359Glu	missense variant	-	NC_000015.10:g.90811406G>A	TOPMed
rs1258712808	p.Gly1360Val	missense variant	-	NC_000015.10:g.90815104G>T	TOPMed
rs1060500649	p.Thr1363Ile	missense variant	-	NC_000015.10:g.90815113C>T	TOPMed
RCV000456940	p.Thr1363Ile	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815113C>T	ClinVar
rs753011288	p.Arg1365Lys	missense variant	-	NC_000015.10:g.90815119G>A	ExAC,gnomAD
rs759982203	p.Arg1365Gly	missense variant	-	NC_000015.10:g.90815118A>G	ExAC,gnomAD
RCV000700117	p.Arg1365Gly	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815118A>G	ClinVar
RCV000571956	p.Arg1365Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90815118A>G	ClinVar
rs752989757	p.Lys1366Asn	missense variant	-	NC_000015.10:g.90815123G>C	ExAC,TOPMed,gnomAD
rs752989757	p.Lys1366Asn	missense variant	-	NC_000015.10:g.90815123G>T	ExAC,TOPMed,gnomAD
rs912021682	p.Ile1367Val	missense variant	-	NC_000015.10:g.90815124A>G	TOPMed
rs587778104	p.Ser1368Pro	missense variant	-	NC_000015.10:g.90815127T>C	ExAC,TOPMed,gnomAD
rs1330629127	p.Ser1368Phe	missense variant	-	NC_000015.10:g.90815128C>T	TOPMed
rs587778104	p.Ser1368Thr	missense variant	-	NC_000015.10:g.90815127T>A	ExAC,TOPMed,gnomAD
RCV000806844	p.Ser1368Pro	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815127T>C	ClinVar
rs1338721724	p.Lys1370Arg	missense variant	-	NC_000015.10:g.90815134A>G	gnomAD
rs587779891	p.Thr1371Met	missense variant	-	NC_000015.10:g.90815137C>T	ExAC,TOPMed,gnomAD
RCV000567738	p.Thr1371Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90815137C>T	ClinVar
RCV000115318	p.Thr1371Met	missense variant	-	NC_000015.10:g.90815137C>T	ClinVar
RCV000554495	p.Thr1371Met	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815137C>T	ClinVar
rs753664070	p.Lys1372Asn	missense variant	-	NC_000015.10:g.90815141A>C	ExAC,gnomAD
RCV000669066	p.Ser1375Ter	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90815148del	ClinVar
rs139115275	p.Ser1375Asn	missense variant	-	NC_000015.10:g.90815149G>A	ESP,ExAC,gnomAD
rs587779892	p.Ile1376Val	missense variant	-	NC_000015.10:g.90815151A>G	TOPMed,gnomAD
RCV000553041	p.Ile1376Val	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815151A>G	ClinVar
RCV000115319	p.Ile1376Val	missense variant	-	NC_000015.10:g.90815151A>G	ClinVar
RCV000531472	p.Ile1377Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815155T>C	ClinVar
rs1555425416	p.Ile1377Thr	missense variant	-	NC_000015.10:g.90815155T>C	-
rs1555425417	p.Gly1378Ter	stop gained	-	NC_000015.10:g.90815157G>T	-
RCV000666358	p.Gly1378Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90815157G>T	ClinVar
rs747834576	p.Ser1380Arg	missense variant	-	NC_000015.10:g.90815165T>G	ExAC,gnomAD
rs377153391	p.Ser1380Gly	missense variant	-	NC_000015.10:g.90815163A>G	ESP,ExAC,TOPMed,gnomAD
RCV000414956	p.Ser1380Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815165T>G	ClinVar
rs771686396	p.Ala1382Pro	missense variant	-	NC_000015.10:g.90815169G>C	ExAC,gnomAD
RCV000709372	p.Ser1383Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90815173C>G	ClinVar
rs199592406	p.His1384Arg	missense variant	-	NC_000015.10:g.90815176A>G	1000Genomes,ExAC,gnomAD
rs1382270916	p.Thr1385Ala	missense variant	-	NC_000015.10:g.90815178A>G	TOPMed
NCI-TCGA novel	p.Gln1387Glu	missense variant	-	NC_000015.10:g.90815184C>G	NCI-TCGA
NCI-TCGA novel	p.Ala1388Thr	missense variant	-	NC_000015.10:g.90815187G>A	NCI-TCGA
rs770278313	p.Gly1391Ala	missense variant	-	NC_000015.10:g.90815197G>C	ExAC,gnomAD
rs1397394866	p.Ala1392Val	missense variant	-	NC_000015.10:g.90815200C>T	TOPMed,gnomAD
rs548600410	p.Asn1393Asp	missense variant	-	NC_000015.10:g.90815202A>G	TOPMed,gnomAD
COSM966559	p.Leu1396Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.90815212T>A	NCI-TCGA Cosmic
RCV000709373	p.Met1399Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815221T>C	ClinVar
rs370588118	p.Ala1400Thr	missense variant	-	NC_000015.10:g.90815223G>A	ESP,ExAC,TOPMed,gnomAD
rs1370764537	p.Pro1402Ala	missense variant	-	NC_000015.10:g.90815229C>G	TOPMed
rs770313956	p.Pro1402Leu	missense variant	-	NC_000015.10:g.90815230C>T	ExAC,TOPMed,gnomAD
rs1254277623	p.Lys1403Asn	missense variant	-	NC_000015.10:g.90815234G>T	gnomAD
RCV000699095	p.Pro1404Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815235C>T	ClinVar
rs763323767	p.Ile1405Thr	missense variant	-	NC_000015.10:g.90815239T>C	ExAC,gnomAD
rs763323767	p.Ile1405Lys	missense variant	-	NC_000015.10:g.90815239T>A	ExAC,gnomAD
RCV000708670	p.Ile1405Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90815239T>C	ClinVar
RCV000464369	p.Ile1405Thr	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815239T>C	ClinVar
RCV000685063	p.Ile1405Ter	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90815241_90815242del	ClinVar
RCV000696478	p.Arg1407Ser	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815246A>C	ClinVar
rs557057587	p.Arg1407Lys	missense variant	-	NC_000015.10:g.90815245G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000543803	p.Arg1407Lys	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815245G>A	ClinVar
rs1022266595	p.Pro1408Arg	missense variant	-	NC_000015.10:g.90815248C>G	gnomAD
RCV000554096	p.Pro1408Arg	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815248C>G	ClinVar
rs1022266595	p.Pro1408Leu	missense variant	-	NC_000015.10:g.90815248C>T	gnomAD
rs761964212	p.Phe1409Cys	missense variant	-	NC_000015.10:g.90815251T>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu1410Ile	missense variant	-	NC_000015.10:g.90815253C>A	NCI-TCGA
COSM4057915	p.Leu1410Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90815254T>G	NCI-TCGA Cosmic
rs1249221595	p.Pro1412Ser	missense variant	-	NC_000015.10:g.90815259C>T	gnomAD
rs767443059	p.Ser1413Pro	missense variant	-	NC_000015.10:g.90815262T>C	ExAC,TOPMed,gnomAD
rs767443059	p.Ser1413Thr	missense variant	-	NC_000015.10:g.90815262T>A	ExAC,TOPMed,gnomAD
rs1225968082	p.Ser1413Leu	missense variant	-	NC_000015.10:g.90815263C>T	gnomAD
rs753800694	p.Tyr1414His	missense variant	-	NC_000015.10:g.90815265T>C	ExAC,TOPMed,gnomAD
RCV000532261	p.Tyr1414His	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815265T>C	ClinVar
RCV000571399	p.Tyr1414His	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90815265T>C	ClinVar
NCI-TCGA novel	p.Phe1416Leu	missense variant	-	NC_000015.10:g.90815273C>A	NCI-TCGA
RCV000686450	p.Phe1416Leu	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815273C>G	ClinVar
RCV000665192	p.Ter1418Lys	stop lost	Bloom syndrome (BLM)	NC_000015.10:g.90815277T>A	ClinVar
rs1555425441	p.Ter1418Lys	stop lost	-	NC_000015.10:g.90815277T>A	-

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001430	Adenoma	group	BEFREE
C0001857	AIDS related complex	disease	BEFREE
C0002395	Alzheimer's Disease	disease	BEFREE
C0003850	Arteriosclerosis	disease	BEFREE
C0004135	Ataxia Telangiectasia	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE
C0004509	Azoospermia	disease	HPO
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0005859	Bloom Syndrome	disease	BEFREE;CLINVAR;CTD_human;LHGDN;MGD;ORPHANET;UNIPROT
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006267	Bronchiectasis	disease	HPO
C0006826	Malignant Neoplasms	group	CGI
C0007113	Rectal Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	CGI;HPO
C0008626	Congenital chromosomal disease	group	BEFREE
C0009207	Cockayne Syndrome	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	LHGDN
C0010417	Cryptorchidism	disease	HPO
C0011644	Scleroderma	disease	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	HPO
C0011991	Diarrhea	phenotype	HPO
C0015625	Fanconi Anemia	disease	BEFREE
C0015934	Fetal Growth Retardation	phenotype	HPO
C0017185	Gastrointestinal Neoplasms	group	BEFREE
C0020507	Hyperplasia	phenotype	LHGDN
C0020555	Hypertrichosis	disease	HPO
C0021296	Infant, Small for Gestational Age	phenotype	HPO
C0021841	Intestinal Neoplasms	group	BEFREE
C0023418	leukemia	disease	BEFREE;CGI;HPO;LHGDN
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023487	Acute Promyelocytic Leukemia	disease	BEFREE
C0024121	Lung Neoplasms	group	LHGDN
C0024299	Lymphoma	group	BEFREE;CGI;HPO
C0024419	Waldenstrom Macroglobulinemia	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027672	Neoplastic Syndromes, Hereditary	group	CLINVAR
C0029434	Osteogenesis Imperfecta	disease	GENOMICS_ENGLAND
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030469	Paranasal Sinus Diseases	group	HPO
C0032339	Rothmund-Thomson syndrome	disease	BEFREE
C0032580	Adenomatous Polyposis Coli	disease	BEFREE
C0033036	Atrial Premature Complexes	disease	BEFREE
C0034069	Pulmonary Fibrosis	disease	BEFREE
C0035372	Rett Syndrome	disease	BEFREE
C0036421	Systemic Scleroderma	disease	BEFREE
C0037199	Sinusitis	disease	HPO
C0037284	Skin lesion	group	BEFREE
C0039075	Syndactyly	disease	HPO
C0041834	Erythema	phenotype	HPO
C0043119	Werner Syndrome	disease	BEFREE
C0079731	B-Cell Lymphomas	group	BEFREE
C0086543	Cataract	disease	BEFREE
C0149925	Small cell carcinoma of lung	disease	BEFREE
C0151639	Decreased fertility in females	phenotype	HPO
C0158733	Hand polydactyly	disease	HPO
C0162538	Immunoglobulin A deficiency (disorder)	disease	HPO
C0221263	Cafe-au-Lait Spots	phenotype	HPO
C0221358	Long narrow head	phenotype	HPO
C0231341	Premature aging syndrome	disease	BEFREE
C0239989	IgM deficiency	phenotype	HPO
C0241703	High pitched voice	phenotype	HPO
C0265974	Birthmark	phenotype	HPO
C0271160	Cortical cataract	phenotype	BEFREE
C0278883	Metastatic melanoma	disease	BEFREE
C0334633	Malignant lymphoma - lymphoplasmacytic	disease	BEFREE
C0346153	Breast Cancer, Familial	disease	BEFREE
C0346429	Multiple malignancy	phenotype	BEFREE
C0349506	Photosensitivity of skin	phenotype	HPO
C0349588	Short stature	phenotype	HPO
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376545	Hematologic Neoplasms	group	GENOMICS_ENGLAND;HPO
C0376628	Chromosome Breakage	phenotype	HPO
C0392557	Nuclear cataract	disease	BEFREE
C0424295	Hyperactive behavior	phenotype	BEFREE
C0424688	Small head	phenotype	HPO
C0426414	Small nose	phenotype	HPO
C0426415	Large nose	phenotype	HPO
C0431350	Primary microcephaly	disease	GENOMICS_ENGLAND
C0521707	Bilateral cataracts (disorder)	disease	BEFREE
C0541764	Delayed bone age	phenotype	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0598935	Tumor Initiation	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0743101	developmentally delayed	phenotype	BEFREE
C0746102	Chronic lung disease	group	HPO
C0751688	Malignant Squamous Cell Neoplasm	disease	HPO
C1112705	Nuclear non-senile cataract	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1292769	Precursor B-cell lymphoblastic leukemia	disease	BEFREE
C1305420	Prominent ear	phenotype	HPO
C1333600	Hereditary Malignant Neoplasm	group	BEFREE
C1333990	Hereditary Nonpolyposis Colorectal Cancer	disease	BEFREE
C1386048	Intrauterine retardation	phenotype	HPO
C1400105	Hypertrophy of nose	phenotype	HPO
C1458155	Mammary Neoplasms	group	BEFREE;LHGDN
C1527249	Colorectal Cancer	disease	BEFREE
C1563697	Chromosome Instability Syndromes	disease	BEFREE
C1704436	Peripheral Arterial Diseases	group	BEFREE
C1708565	Invasive Skin Melanoma	disease	BEFREE
C1832586	DERMATITIS HERPETIFORMIS, FAMILIAL	disease	BEFREE
C1837463	Narrow face	phenotype	HPO
C1849121	Thin face	phenotype	HPO
C1849950	Agenesis of maxillary lateral incisor	phenotype	HPO
C1850049	Clinodactyly of the 5th finger	disease	HPO
C1854114	Short nose	phenotype	HPO
C1855285	Protruding ear	phenotype	HPO
C1858085	Malar flattening	phenotype	HPO
C1859778	Postnatal growth retardation	phenotype	HPO
C2745900	Promyelocytic leukemia	disease	BEFREE
C2931822	Nasopharyngeal carcinoma	disease	BEFREE
C3469521	FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3806178	Spotty hypopigmentation	phenotype	HPO
C3806179	Spotty hyperpigmentation	phenotype	HPO
C3806482	Recurrent respiratory infections	phenotype	HPO
C4021242	Hypoplasia of the zygomatic bone	phenotype	HPO
C4021632	Facial telangiectasia in butterfly midface distribution	phenotype	HPO
C4025790	Specific learning disability	disease	HPO
C4072879	Small cheekbone	phenotype	HPO
C4083046	Absent upper lateral incisors	phenotype	HPO
C4275075	Atypical Werner syndrome	disease	BEFREE
C4280368	Hypotrophic cheekbone	phenotype	HPO
C4280369	Flattening of the zygomatic bone	phenotype	HPO
C4280370	Depressed cheekbone	phenotype	HPO
C4280538	Curvature of little finger	phenotype	HPO
C4280629	Hyperplasia of nose	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO
C4280653	Turridolichocephaly	disease	HPO
C4280654	Narrow skull shape	disease	HPO
C4280655	Narrow head shape	disease	HPO
C4280656	Narrow cranium shape	disease	HPO
C4520847	Immunoglobulin G subclass deficiency (finding)	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000400	four-way junction DNA binding	IDA
GO:0000403	Y-form DNA binding	IDA
GO:0000405	bubble DNA binding	IDA
GO:0002039	p53 binding	IPI
GO:0003677	DNA binding	IDA
GO:0003678	DNA helicase activity	IDA
GO:0003678	DNA helicase activity	IMP
GO:0003697	single-stranded DNA binding	IDA
GO:0004386	helicase activity	IDA
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IDA
GO:0008094	DNA-dependent ATPase activity	IDA
GO:0008270	zinc ion binding	IDA
GO:0009378	four-way junction helicase activity	IDA
GO:0009378	four-way junction helicase activity	IBA
GO:0016887	ATPase activity	IDA
GO:0036310	annealing helicase activity	IDA
GO:0042802	identical protein binding	IDA
GO:0042803	protein homodimerization activity	IDA
GO:0043138	3'-5' DNA helicase activity	IBA
GO:0051880	G-quadruplex DNA binding	IDA
GO:0061749	forked DNA-dependent helicase activity	IDA
GO:0061821	telomeric D-loop binding	IDA
GO:0061849	telomeric G-quadruplex DNA binding	IC
GO:1905773	8-hydroxy-2'-deoxyguanosine DNA binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity	IMP
GO:0000723	telomere maintenance	IBA
GO:0000724	double-strand break repair via homologous recombination	NAS
GO:0000724	double-strand break repair via homologous recombination	IBA
GO:0000729	DNA double-strand break processing	IDA
GO:0000733	DNA strand renaturation	IEA
GO:0006260	DNA replication	ISS
GO:0006260	DNA replication	TAS
GO:0006268	DNA unwinding involved in DNA replication	IBA
GO:0006281	DNA repair	IBA
GO:0006281	DNA repair	NAS
GO:0006310	DNA recombination	NAS
GO:0006310	DNA recombination	IBA
GO:0006974	cellular response to DNA damage stimulus	IMP
GO:0006974	cellular response to DNA damage stimulus	IDA
GO:0007095	mitotic G2 DNA damage checkpoint	IDA
GO:0010165	response to X-ray	IDA
GO:0031297	replication fork processing	IDA
GO:0032508	DNA duplex unwinding	IDA
GO:0032508	DNA duplex unwinding	IBA
GO:0044806	G-quadruplex DNA unwinding	ISS
GO:0044806	G-quadruplex DNA unwinding	IDA
GO:0044806	G-quadruplex DNA unwinding	IBA
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0045910	negative regulation of DNA recombination	IMP
GO:0048478	replication fork protection	NAS
GO:0051259	protein complex oligomerization	IDA
GO:0051260	protein homooligomerization	IDA
GO:0051782	negative regulation of cell division	IMP
GO:0061820	telomeric D-loop disassembly	IDA
GO:0071479	cellular response to ionizing radiation	IDA
GO:0072711	cellular response to hydroxyurea	IDA
GO:0072757	cellular response to camptothecin	IDA
GO:0090329	regulation of DNA-dependent DNA replication	IMP
GO:0090656	t-circle formation	TAS
GO:1901796	regulation of signal transduction by p53 class mediator	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000228	nuclear chromosome	IDA
GO:0000800	lateral element	IDA
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS
GO:0005657	replication fork	ISS
GO:0005694	chromosome	IBA
GO:0005730	nucleolus	IDA
GO:0005737	cytoplasm	IBA
GO:0005829	cytosol	IDA
GO:0016363	nuclear matrix	IDA
GO:0016605	PML body	IDA
GO:0032991	protein-containing complex	IDA
GO:0000781	chromosome, telomeric region	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1474165	Reproduction	IEA
R-HSA-1500620	Meiosis	IEA
R-HSA-1640170	Cell Cycle	TAS
R-HSA-1640170	Cell Cycle	IEA
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-2990846	SUMOylation	TAS
R-HSA-3108214	SUMOylation of DNA damage response and repair proteins	TAS
R-HSA-3108232	SUMO E3 ligases SUMOylate target proteins	TAS
R-HSA-3700989	Transcriptional Regulation by TP53	TAS
R-HSA-392499	Metabolism of proteins	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-597592	Post-translational protein modification	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
R-HSA-912446	Meiotic recombination	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C029497	2,3-bis(3'-hydroxybenzyl)butyrolactone	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in increased expression of BLM mRNA	19167446
C027576	4-hydroxy-2-nonenal	4-hydroxy-2-nonenal results in decreased expression of BLM mRNA	19191707
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 BLM mRNA	19150397; 20382639;
C496492	abrine	abrine results in decreased expression of BLM mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of BLM mRNA	22230336
D000082	Acetaminophen	Acetaminophen results in decreased expression of BLM mRNA	17942131
D000225	Adenine	Adenine results in decreased expression of BLM mRNA	24211769
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of BLM mRNA	22100608
C000593263	afuresertib	afuresertib results in decreased expression of BLM mRNA	28960945
C059765	amphotericin B, deoxycholate drug combination	amphotericin B, deoxycholate drug combination results in increased expression of BLM mRNA	22863853
D001151	Arsenic	Arsenic results in decreased expression of BLM mRNA	19945496
D001280	Atrazine	Atrazine results in decreased expression of BLM mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of BLM mRNA	20064835
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of BLM mRNA	17942131
C006780	bisphenol A	bisphenol A results in decreased expression of BLM mRNA	29275510
C006780	bisphenol A	bisphenol A results in increased expression of BLM mRNA	17268063; 22121209;
C006780	bisphenol A	Fulvestrant inhibits the reaction [bisphenol A results in increased expression of BLM mRNA]	17268063
C006780	bisphenol A	bisphenol A results in increased expression of BLM mRNA	30816183
C005961	bis(tri-n-butyltin)oxide	bis(tri-n-butyltin)oxide results in decreased expression of BLM mRNA	17942131
C584509	C646 compound	C646 compound results in decreased expression of BLM mRNA	23698071
D002117	Calcitriol	Calcitriol results in decreased expression of BLM mRNA	21592394
D002117	Calcitriol	[Testosterone co-treated with Calcitriol] results in decreased expression of BLM mRNA	21592394
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of BLM mRNA	31150632
D000068579	Celecoxib	Celecoxib results in increased expression of BLM mRNA	28201806
D002922	Ciguatoxins	Ciguatoxins affects the expression of BLM mRNA	18353800
D002945	Cisplatin	Cisplatin results in decreased expression of BLM mRNA	24211769
D002945	Cisplatin	Cisplatin results in increased expression of BLM mRNA	27594783
D002945	Cisplatin	Cisplatin results in increased expression of BLM mRNA	21151649
D003078	Colchicine	Colchicine results in decreased expression of BLM mRNA	24211769
D003300	Copper	[NSC 689534 binds to Copper] which results in decreased expression of BLM mRNA	20971185
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of BLM mRNA	19549813
D003375	Coumestrol	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in increased expression of BLM mRNA	19167446
D003375	Coumestrol	[Coumestrol co-treated with Resveratrol] results in increased expression of BLM mRNA	19167446
D003375	Coumestrol	Coumestrol results in increased expression of BLM mRNA	19167446
C408982	CPG-oligonucleotide	CPG-oligonucleotide results in decreased expression of BLM mRNA	21878529
D003471	Cuprizone	Cuprizone results in increased expression of BLM mRNA	26577399
D016572	Cyclosporine	Cyclosporine results in decreased expression of BLM mRNA	20106945
D016572	Cyclosporine	Cyclosporine results in decreased expression of BLM mRNA	17942131
D003703	Demecolcine	Demecolcine results in decreased expression of BLM mRNA	23649840
C000944	dicrotophos	dicrotophos results in decreased expression of BLM mRNA	28302478
D004317	Doxorubicin	Doxorubicin results in decreased expression of BLM mRNA	30031762
D004958	Estradiol	EGF protein inhibits the reaction [Estradiol results in increased expression of BLM mRNA]	24758408
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in decreased expression of BLM mRNA	21453500
D004958	Estradiol	Estradiol results in increased expression of BLM mRNA	17268063; 24758408;
D004958	Estradiol	Fulvestrant inhibits the reaction [Estradiol results in increased expression of BLM mRNA]	17268063
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of BLM mRNA	24211769
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of BLM exon	17156454
D005047	Etoposide	Etoposide results in decreased expression of BLM mRNA	24211769
D005472	Fluorouracil	Fluorouracil results in decreased expression of BLM mRNA	19272435
D000077267	Fulvestrant	Fulvestrant inhibits the reaction [bisphenol A results in increased expression of BLM mRNA]	17268063
D000077267	Fulvestrant	Fulvestrant inhibits the reaction [Estradiol results in increased expression of BLM mRNA]	17268063
D005839	Gentamicins	Gentamicins results in decreased expression of BLM mRNA	22061828
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of BLM mRNA	20044591
D006918	Hydroxyurea	Hydroxyurea results in decreased expression of BLM mRNA	24211769
D006918	Hydroxyurea	Hydroxyurea results in increased expression of BLM mRNA	18647660
D007052	Ibuprofen	Ibuprofen results in increased expression of BLM mRNA	28201806
D000077271	Imiquimod	Imiquimod results in decreased expression of BLM mRNA	21878529
C545476	incobotulinumtoxinA	incobotulinumtoxinA results in decreased expression of BLM mRNA	29522793
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of BLM mRNA	25613284
C544151	jinfukang	jinfukang results in increased expression of BLM mRNA	27392435
D007854	Lead	Lead results in decreased expression of BLM mRNA	19921347
C533894	LG 100815	LG 100815 results in decreased expression of BLM mRNA	16951191
D008154	Lucanthone	Lucanthone results in decreased expression of BLM mRNA	21148553
D058185	Magnetite Nanoparticles	[Succimer binds to Magnetite Nanoparticles] which results in decreased expression of BLM mRNA	21641980
D008628	Mercury	Mercury binds to and results in decreased activity of BLM protein	21440839
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of BLM mRNA	26011545
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of BLM mRNA	24211769
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of BLM mRNA	23649840
D016685	Mitomycin	Mitomycin results in decreased expression of BLM mRNA	24211769
C000622638	MLN7243	MLN7243 results in increased sumoylation of BLM protein	31285264
D009151	Mustard Gas	Mustard Gas results in decreased expression of BLM mRNA	25102026
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of BLM mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of BLM mRNA	25620056
C017096	n-butoxyethanol	n-butoxyethanol results in increased expression of BLM mRNA	19812364
D009532	Nickel	Nickel results in increased expression of BLM mRNA	25583101
D009534	Niclosamide	Niclosamide results in increased expression of BLM mRNA	31398420
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in decreased expression of BLM mRNA	20971185
C062198	octa-2,4,6-trienoic acid	octa-2,4,6-trienoic acid results in decreased expression of BLM mRNA	16951191
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of BLM mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in decreased expression of BLM mRNA	25729387
D010100	Oxygen	Oxygen deficiency results in decreased expression of BLM mRNA	26516004
D010100	Oxygen	Oxygen deficiency results in increased expression of BLM mRNA	26476374
D010100	Oxygen	Quercetin inhibits the reaction [Oxygen deficiency results in increased expression of BLM mRNA]	26476374
D010269	Paraquat	[ATG7 protein affects the susceptibility to Paraquat] which affects the expression of BLM mRNA	28012437
D010433	Pentylenetetrazole	Pentylenetetrazole affects the expression of BLM mRNA	21503142
C058305	phenethyl isothiocyanate	phenethyl isothiocyanate results in decreased expression of BLM mRNA	26678675
D010634	Phenobarbital	Phenobarbital affects the expression of BLM mRNA	23091169
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in decreased expression of BLM mRNA	21453500
C005556	propionaldehyde	propionaldehyde results in decreased expression of BLM mRNA	26079696
D011794	Quercetin	Quercetin results in increased expression of BLM mRNA	21632981
D011794	Quercetin	Quercetin inhibits the reaction [Oxygen deficiency results in increased expression of BLM mRNA]	26476374
D000077185	Resveratrol	[Coumestrol co-treated with Resveratrol] results in increased expression of BLM mRNA	19167446
C547185	riccardin D	riccardin D results in decreased expression of and results in decreased activity of BLM protein	24069304
C017947	sodium arsenite	sodium arsenite results in increased expression of BLM mRNA	29301061
D004113	Succimer	[Succimer binds to Magnetite Nanoparticles] which results in decreased expression of BLM mRNA	21641980
D000077210	Sunitinib	Sunitinib results in decreased expression of BLM mRNA	31533062
D013739	Testosterone	[Testosterone co-treated with Calcitriol] results in decreased expression of BLM mRNA	21592394
D013739	Testosterone	Testosterone results in decreased expression of BLM mRNA	21592394
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of BLM mRNA	21570461
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of BLM mRNA	25613284
D019284	Thapsigargin	Thapsigargin results in increased expression of BLM protein	24648495
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of BLM mRNA	27865774
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of BLM mRNA	27404394
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of BLM mRNA	25729387
D019772	Topotecan	Topotecan results in decreased expression of BLM mRNA	25729387
C496197	trans-10,cis-12-conjugated linoleic acid	trans-10,cis-12-conjugated linoleic acid results in decreased expression of BLM mRNA	17951470
D014212	Tretinoin	Tretinoin results in increased expression of BLM mRNA	20488242
C015559	trimellitic anhydride	trimellitic anhydride results in increased expression of BLM mRNA	19042947
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of BLM mRNA	26179874
D000077288	Troglitazone	Troglitazone results in decreased expression of BLM mRNA	19140230
D014635	Valproic Acid	Valproic Acid results in decreased expression of BLM mRNA	23179753; 27188386;
D014750	Vincristine	Vincristine results in decreased expression of BLM mRNA	23649840

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0067	ATP-binding
KW-0225	Disease mutation
KW-0227	DNA damage
KW-0234	DNA repair
KW-0235	DNA replication
KW-0238	DNA-binding
KW-0242	Dwarfism
KW-0347	Helicase
KW-0378	Hydrolase
KW-1017	Isopeptide bond
KW-0479	Metal-binding
KW-0547	Nucleotide-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0832	Ubl conjugation
KW-0862	Zinc

Interpro

InterPro ID	InterPro Term
IPR012532	BDHCT
IPR032439	BDHCT_assoc
IPR032437	BLM_N
IPR011545	DEAD/DEAH_box_helicase_dom
IPR002464	DNA/RNA_helicase_DEAH_CS
IPR004589	DNA_helicase_ATP-dep_RecQ
IPR014001	Helicase_ATP-bd
IPR001650	Helicase_C
IPR010997	HRDC-like_sf
IPR002121	HRDC_dom
IPR027417	P-loop_NTPase
IPR032284	RecQ_Zn-bd
IPR018982	RQC_domain
IPR036388	WH-like_DNA-bd_sf
IPR036390	WH_DNA-bd_sf

PROSITE

PROSITE ID	PROSITE Term
PS00690	DEAH_ATP_HELICASE
PS51192	HELICASE_ATP_BIND_1
PS51194	HELICASE_CTER
PS50967	HRDC

Pfam

Pfam ID	Pfam Term
PF08072	BDHCT
PF16204	BDHCT_assoc
PF16202	BLM_N
PF00270	DEAD
PF00271	Helicase_C
PF00570	HRDC
PF16124	RecQ_Zn_bind
PF09382	RQC

Gene: BLM

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