CleftGeneDB-Search

Gene: BMPR1A

Basic information

Tag	Content
Uniprot ID	P36894; A8K6U9; Q8NEN8;
Entrez ID	657
Genbank protein ID	CAA80257.1; AAH28383.1; BAF84453.1;
Genbank nucleotide ID	XM_011540104.2; NM_004329.2; XM_011540103.2;
Ensembl protein ID	ENSP00000489707; ENSP00000361107; ENSP00000490273; ENSP00000492290;
Ensembl nucleotide ID	ENSG00000107779
Gene name	Bone morphogenetic protein receptor type-1A
Gene symbol	BMPR1A
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP2, BMP4, GDF5 and GDF6. Positively regulates chondrocyte differentiation through GDF5 interaction. Mediates induction of adipogenesis by GDF6.
Sequence	MPQLYIYIRL LGAYLFIISR VQGQNLDSML HGTGMKSDSD QKKSENGVTL APEDTLPFLK 60 CYCSGHCPDD AINNTCITNG HCFAIIEEDD QGETTLASGC MKYEGSDFQC KDSPKAQLRR 120 TIECCRTNLC NQYLQPTLPP VVIGPFFDGS IRWLVLLISM AVCIIAMIIF SSCFCYKHYC 180 KSISSRRRYN RDLEQDEAFI PVGESLKDLI DQSQSSGSGS GLPLLVQRTI AKQIQMVRQV 240 GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS WFRETEIYQT VLMRHENILG FIAADIKGTG 300 SWTQLYLITD YHENGSLYDF LKCATLDTRA LLKLAYSAAC GLCHLHTEIY GTQGKPAIAH 360 RDLKSKNILI KKNGSCCIAD LGLAVKFNSD TNEVDVPLNT RVGTKRYMAP EVLDESLNKN 420 HFQPYIMADI YSFGLIIWEM ARRCITGGIV EEYQLPYYNM VPSDPSYEDM REVVCVKRLR 480 PIVSNRWNSD ECLRAVLKLM SECWAHNPAS RLTALRIKKT LAKMVESQDV KI 532

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
1ES7
1REW
2GOO
2H62
2H64
2K3G
2QJ9
2QJA
2QJB
3NH7
3QB4
2H62

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	BMPR1A	404101	F1MCE7		Bos taurus	Prediction	More>>
1:1 ortholog	BMPR1A	489077	E2QW66		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	BMPR1A		A0A452DLK9		Capra hircus	Prediction	More>>
1:1 ortholog	BMPR1A		F6UG39		Equus caballus	Prediction	More>>
1:1 ortholog	BMPR1A	657	P36894		Homo sapiens	Prediction	More>>
1:1 ortholog	Bmpr1a	12166	P36895	CPO,CLP	Mus musculus	Publication	More>>
1:1 ortholog	BMPR1A	450572	H2Q272		Pan troglodytes	Prediction	More>>
1:1 ortholog	BMPR1A	100350518	G1TCM6		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Bmpr1a	81507	Q78EA7		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000166343	p.Met1Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876019A>G	ClinVar
RCV000210125	p.Met1Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876021G>C	ClinVar
RCV000492794	p.Met1Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876019A>C	ClinVar
RCV000556943	p.Met1Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876019A>G	ClinVar
rs143248687	p.Pro2Arg	missense variant	-	NC_000010.11:g.86876023C>G	ESP,ExAC,TOPMed,gnomAD
RCV000131909	p.Pro2Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876022C>A	ClinVar
RCV000525840	p.Pro2Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876022C>A	ClinVar
RCV000120253	p.Pro2Thr	missense variant	-	NC_000010.11:g.86876022C>A	ClinVar
rs11528010	p.Pro2Thr	missense variant	-	NC_000010.11:g.86876022C>A	UniProt,dbSNP
VAR_041397	p.Pro2Thr	missense variant	-	NC_000010.11:g.86876022C>A	UniProt
rs11528010	p.Pro2Thr	missense variant	-	NC_000010.11:g.86876022C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143248687	p.Pro2Leu	missense variant	-	NC_000010.11:g.86876023C>T	ESP,ExAC,TOPMed,gnomAD
RCV000411290	p.Pro2Leu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876023C>T	ClinVar
RCV000562590	p.Pro2Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876023C>T	ClinVar
RCV000034703	p.Pro2Thr	missense variant	-	NC_000010.11:g.86876022C>A	ClinVar
RCV000588955	p.Pro2Leu	missense variant	-	NC_000010.11:g.86876023C>T	ClinVar
RCV000309392	p.Pro2Thr	missense variant	Juvenile Polyposis	NC_000010.11:g.86876022C>A	ClinVar
rs1554886804	p.Gln3Pro	missense variant	-	NC_000010.11:g.86876026A>C	-
RCV000580930	p.Gln3Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876026A>C	ClinVar
rs1392086533	p.Tyr5Ter	stop gained	-	NC_000010.11:g.86876033C>A	gnomAD
RCV000565507	p.Tyr5Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876033C>A	ClinVar
rs762926643	p.Tyr7His	missense variant	-	NC_000010.11:g.86876037T>C	ExAC,gnomAD
RCV000705938	p.Tyr7His	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876037T>C	ClinVar
RCV000582252	p.Tyr7His	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876037T>C	ClinVar
rs863224719	p.Ile8Val	missense variant	-	NC_000010.11:g.86876040A>G	TOPMed
RCV000195699	p.Ile8Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876040A>G	ClinVar
RCV000214029	p.Ile8Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876040A>G	ClinVar
RCV000523833	p.Arg9Thr	missense variant	-	NC_000010.11:g.86876044G>C	ClinVar
rs766269417	p.Arg9Thr	missense variant	-	NC_000010.11:g.86876044G>C	ExAC,gnomAD
RCV000233196	p.Ala13Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876055G>A	ClinVar
rs200115604	p.Ala13Thr	missense variant	-	NC_000010.11:g.86876055G>A	1000Genomes,TOPMed
rs754015069	p.Ala13Gly	missense variant	-	NC_000010.11:g.86876056C>G	ExAC,gnomAD
RCV000572173	p.Ala13Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876055G>A	ClinVar
RCV000657333	p.Tyr14Ter	frameshift	-	NC_000010.11:g.86876058dup	ClinVar
RCV000759483	p.Tyr14Ter	frameshift	-	NC_000010.11:g.86876057del	ClinVar
RCV000635432	p.Leu15Ter	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876062_86876065del	ClinVar
rs151235720	p.Phe16Tyr	missense variant	-	NC_000010.11:g.86876065T>A	ESP,ExAC,gnomAD
rs151235720	p.Phe16Cys	missense variant	-	NC_000010.11:g.86876065T>G	ESP,ExAC,gnomAD
RCV000159833	p.Phe16Cys	missense variant	-	NC_000010.11:g.86876065T>G	ClinVar
RCV000758774	p.Ile17Leu	missense variant	-	NC_000010.11:g.86876067A>C	ClinVar
rs778886055	p.Ile17Leu	missense variant	-	NC_000010.11:g.86876067A>C	ExAC,gnomAD
rs778886055	p.Ile17Val	missense variant	-	NC_000010.11:g.86876067A>G	ExAC,gnomAD
RCV000701225	p.Ile17Leu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876067A>C	ClinVar
RCV000216319	p.Ile17Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876067A>C	ClinVar
rs745920240	p.Ile18Thr	missense variant	-	NC_000010.11:g.86876071T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser19Ala	missense variant	-	NC_000010.11:g.86876073T>G	NCI-TCGA
RCV000580767	p.Arg20Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876076C>T	ClinVar
rs1472397694	p.Arg20Cys	missense variant	-	NC_000010.11:g.86876076C>T	TOPMed
rs759014147	p.Arg20His	missense variant	-	NC_000010.11:g.86876077G>A	ExAC,TOPMed,gnomAD
RCV000553756	p.Arg20Cys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876076C>T	ClinVar
RCV000213165	p.Arg20His	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876077G>A	ClinVar
NCI-TCGA novel	p.Arg20Leu	missense variant	-	NC_000010.11:g.86876077G>T	NCI-TCGA
rs747437716	p.Gln22Pro	missense variant	-	NC_000010.11:g.86876083A>C	ExAC,TOPMed,gnomAD
rs1554886821	p.Gln22Ter	stop gained	-	NC_000010.11:g.86876082C>T	-
rs786204152	p.Gln22His	missense variant	-	NC_000010.11:g.86876084A>C	-
RCV000168143	p.Gln22His	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876084A>C	ClinVar
rs1554886821	p.Gln22Ter	stop gained	-	NC_000010.11:g.86876082C>T	NCI-TCGA
RCV000758776	p.Gln22His	missense variant	-	NC_000010.11:g.86876084A>C	ClinVar
RCV000521828	p.Gln22Ter	nonsense	-	NC_000010.11:g.86876082C>T	ClinVar
RCV000704484	p.Gln22Pro	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876083A>C	ClinVar
RCV000480437	p.Gln22Pro	missense variant	-	NC_000010.11:g.86876083A>C	ClinVar
rs1131691171	p.Gly23Arg	missense variant	-	NC_000010.11:g.86876085G>A	-
RCV000494227	p.Gly23Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876085G>A	ClinVar
NCI-TCGA novel	p.Gly23Glu	missense variant	-	NC_000010.11:g.86890062G>A	NCI-TCGA
rs1163365235	p.Gln24Arg	missense variant	-	NC_000010.11:g.86890065A>G	gnomAD
RCV000487317	p.Asn25Ser	missense variant	-	NC_000010.11:g.86890068A>G	ClinVar
rs1060503410	p.Asn25Ser	missense variant	-	NC_000010.11:g.86890068A>G	-
RCV000566090	p.Asn25Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890068A>G	ClinVar
RCV000463279	p.Asn25Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890068A>G	ClinVar
rs200307579	p.Leu26Pro	missense variant	-	NC_000010.11:g.86890071T>C	1000Genomes
rs1430886611	p.Asp27Tyr	missense variant	-	NC_000010.11:g.86890073G>T	gnomAD
RCV000196492	p.Ser28Asn	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890077G>A	ClinVar
RCV000568404	p.Ser28Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890077G>A	ClinVar
rs371904636	p.Ser28Asn	missense variant	-	NC_000010.11:g.86890077G>A	ESP,TOPMed,gnomAD
rs1170582171	p.Ser28Gly	missense variant	-	NC_000010.11:g.86890076A>G	gnomAD
RCV000483899	p.Ser28Asn	missense variant	-	NC_000010.11:g.86890077G>A	ClinVar
RCV000580173	p.Leu30Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890083T>G	ClinVar
rs1194403044	p.Leu30Arg	missense variant	-	NC_000010.11:g.86890083T>G	TOPMed
rs1461705514	p.His31Gln	missense variant	-	NC_000010.11:g.86890087T>A	gnomAD
RCV000522769	p.Gly32Arg	missense variant	-	NC_000010.11:g.86890088G>C	ClinVar
rs755462552	p.Gly32Arg	missense variant	-	NC_000010.11:g.86890088G>C	ExAC,TOPMed,gnomAD
RCV000572168	p.Gly32Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890088G>C	ClinVar
RCV000461457	p.Gly32Arg	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890088G>C	ClinVar
rs748515167	p.Thr33Ala	missense variant	-	NC_000010.11:g.86890091A>G	ExAC,TOPMed,gnomAD
rs142454490	p.Thr33Ser	missense variant	-	NC_000010.11:g.86890092C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000569418	p.Thr33Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890092C>G	ClinVar
RCV000565843	p.Thr33Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890091A>G	ClinVar
RCV000552227	p.Thr33Ala	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890091A>G	ClinVar
rs730881430	p.Gly34Ala	missense variant	-	NC_000010.11:g.86890095G>C	-
RCV000213466	p.Gly34Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890095G>C	ClinVar
RCV000159834	p.Gly34Ala	missense variant	-	NC_000010.11:g.86890095G>C	ClinVar
RCV000772959	p.Met35Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890099G>T	ClinVar
rs1043850286	p.Met35Val	missense variant	-	NC_000010.11:g.86890097A>G	TOPMed
RCV000776991	p.Lys36Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890101A>C	ClinVar
RCV000573226	p.Asp38Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890108C>G	ClinVar
rs1021443408	p.Asp38Glu	missense variant	-	NC_000010.11:g.86890108C>G	TOPMed,gnomAD
rs1554888103	p.Asp38His	missense variant	-	NC_000010.11:g.86890106G>C	-
RCV000822318	p.Asp38Glu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890108C>G	ClinVar
RCV000580814	p.Asp38His	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890106G>C	ClinVar
rs876658859	p.Ser39Tyr	missense variant	-	NC_000010.11:g.86890110C>A	-
RCV000144578	p.Ser39Ter	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890109_86890110insA	ClinVar
rs876658859	p.Ser39Phe	missense variant	-	NC_000010.11:g.86890110C>T	-
RCV000808348	p.Ser39Phe	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890110C>T	ClinVar
RCV000223454	p.Ser39Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890110C>T	ClinVar
RCV000580363	p.Ser39Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890110C>A	ClinVar
RCV000635436	p.Asp40Gly	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890113A>G	ClinVar
rs587781556	p.Asp40Asn	missense variant	-	NC_000010.11:g.86890112G>A	ExAC,TOPMed,gnomAD
rs1060503403	p.Asp40Ala	missense variant	-	NC_000010.11:g.86890113A>C	TOPMed
RCV000464702	p.Asp40Asn	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890112G>A	ClinVar
RCV000129572	p.Asp40Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890112G>A	ClinVar
RCV000521982	p.Asp40Asn	missense variant	-	NC_000010.11:g.86890112G>A	ClinVar
rs1060503403	p.Asp40Gly	missense variant	-	NC_000010.11:g.86890113A>G	TOPMed
RCV000561127	p.Asp40Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890113A>C	ClinVar
RCV000463813	p.Asp40Ala	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890113A>C	ClinVar
rs1363945274	p.Gln41Arg	missense variant	-	NC_000010.11:g.86890116A>G	TOPMed
rs786203156	p.Lys42Glu	missense variant	-	NC_000010.11:g.86890118A>G	-
RCV000166341	p.Lys42Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890118A>G	ClinVar
RCV000635485	p.Lys42Glu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890118A>G	ClinVar
NCI-TCGA novel	p.Ser44ValPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.86890117_86890118insA	NCI-TCGA
RCV000697948	p.Glu45Gly	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890128A>G	ClinVar
RCV000705111	p.Glu45Ter	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890127_86890128del	ClinVar
rs1554888112	p.Glu45Lys	missense variant	-	NC_000010.11:g.86890127G>A	-
RCV000536243	p.Glu45Lys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890127G>A	ClinVar
RCV000231777	p.Gly47Glu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890134G>A	ClinVar
rs368595543	p.Gly47Val	missense variant	-	NC_000010.11:g.86890134G>T	ESP,ExAC,TOPMed,gnomAD
RCV000687804	p.Gly47Ter	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890133G>T	ClinVar
RCV000166542	p.Gly47Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890134G>A	ClinVar
rs368595543	p.Gly47Glu	missense variant	-	NC_000010.11:g.86890134G>A	ESP,ExAC,TOPMed,gnomAD
RCV000478286	p.Gly47Val	missense variant	-	NC_000010.11:g.86890134G>T	ClinVar
rs775188308	p.Val48Ile	missense variant	-	NC_000010.11:g.86890136G>A	ExAC,TOPMed,gnomAD
RCV000478294	p.Thr49Ter	frameshift	-	NC_000010.11:g.86890137dup	ClinVar
RCV000566608	p.Ala51Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890145G>A	ClinVar
RCV000824159	p.Ala51Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890145G>A	ClinVar
rs1554888117	p.Ala51Thr	missense variant	-	NC_000010.11:g.86890145G>A	-
RCV000572940	p.Glu53Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890152A>G	ClinVar
rs1554888120	p.Glu53Gly	missense variant	-	NC_000010.11:g.86890152A>G	-
rs1554888119	p.Glu53Lys	missense variant	-	NC_000010.11:g.86890151G>A	-
RCV000580074	p.Glu53Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890151G>A	ClinVar
rs1554888124	p.Asp54Val	missense variant	-	NC_000010.11:g.86890155A>T	-
RCV000635483	p.Asp54Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890155A>T	ClinVar
RCV000492863	p.Asp54Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890154del	ClinVar
NCI-TCGA novel	p.Asp54His	missense variant	-	NC_000010.11:g.86890154G>C	NCI-TCGA
NCI-TCGA novel	p.Asp54Asn	missense variant	-	NC_000010.11:g.86890154G>A	NCI-TCGA
rs1554888125	p.Leu56Trp	missense variant	-	NC_000010.11:g.86890161T>G	-
RCV000635418	p.Leu56Trp	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890161T>G	ClinVar
RCV000494075	p.Pro57Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890164C>G	ClinVar
rs1057517610	p.Pro57Arg	missense variant	-	NC_000010.11:g.86890164C>G	gnomAD
COSM20748	p.Phe58Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86890167T>A	NCI-TCGA Cosmic
RCV000546241	p.Phe58Ter	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890170del	ClinVar
RCV000162393	p.Phe58Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890170del	ClinVar
VAR_041398	p.Phe58Tyr	Missense	-	-	UniProt
COSM1967760	p.Leu59Ter	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.86890165T>-	NCI-TCGA Cosmic
RCV000755041	p.Leu59Ter	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890170T>A	ClinVar
COSM4920745	p.Cys61Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86890176G>A	NCI-TCGA Cosmic
RCV000477054	p.Tyr62Cys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890179A>G	ClinVar
rs1060503402	p.Tyr62Cys	missense variant	-	NC_000010.11:g.86890179A>G	-
RCV000572912	p.Tyr62Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890179A>G	ClinVar
VAR_022828	p.Tyr62Asp	Missense	Juvenile polyposis syndrome (JPS) [MIM:174900]	-	UniProt
RCV000777502	p.Cys63Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890183C>A	ClinVar
rs201749804	p.Ser64Thr	missense variant	-	NC_000010.11:g.86890184T>A	1000Genomes
rs760515128	p.Ser64Leu	missense variant	-	NC_000010.11:g.86890185C>T	ExAC,gnomAD
RCV000235281	p.Ser64Leu	missense variant	-	NC_000010.11:g.86890185C>T	ClinVar
RCV000570508	p.Ser64Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890185C>T	ClinVar
RCV000635479	p.Asp69Tyr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890199G>T	ClinVar
RCV000570711	p.Asp69Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890200A>G	ClinVar
RCV000570399	p.Asp69Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890193_86890197dup	ClinVar
rs1177143902	p.Asp69Tyr	missense variant	-	NC_000010.11:g.86890199G>T	gnomAD
rs1554888137	p.Asp69Gly	missense variant	-	NC_000010.11:g.86890200A>G	-
rs1177143902	p.Asp69His	missense variant	-	NC_000010.11:g.86890199G>C	gnomAD
RCV000465318	p.Asp70Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890203A>T	ClinVar
rs1060503394	p.Asp70Val	missense variant	-	NC_000010.11:g.86890203A>T	-
RCV000759481	p.Asp70Val	missense variant	-	NC_000010.11:g.86890203A>T	ClinVar
RCV000460119	p.Ala71Ter	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890207_86890222del	ClinVar
rs1064795729	p.Ile72Val	missense variant	-	NC_000010.11:g.86890208A>G	-
RCV000484198	p.Ile72Val	missense variant	-	NC_000010.11:g.86890208A>G	ClinVar
RCV000776272	p.Ile72Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890208A>G	ClinVar
RCV000530720	p.Ile72Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890208A>G	ClinVar
RCV000163765	p.Asn73Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890210dup	ClinVar
NCI-TCGA novel	p.Asn74Lys	missense variant	-	NC_000010.11:g.86890216C>G	NCI-TCGA
RCV000572222	p.Thr75Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890217A>G	ClinVar
rs1554888142	p.Thr75Ala	missense variant	-	NC_000010.11:g.86890217A>G	-
rs786201792	p.Cys76Tyr	missense variant	-	NC_000010.11:g.86890221G>A	-
RCV000164261	p.Cys76Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890221G>A	ClinVar
rs878854666	p.Ile77Val	missense variant	-	NC_000010.11:g.86890223A>G	-
COSM292547	p.Ile77LysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.86890224T>-	NCI-TCGA Cosmic
RCV000226374	p.Ile77Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890223A>G	ClinVar
RCV000478119	p.Thr78Ile	missense variant	-	NC_000010.11:g.86892129C>T	ClinVar
RCV000794170	p.Thr78Ile	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892129C>T	ClinVar
rs1064793490	p.Thr78Ser	missense variant	-	NC_000010.11:g.86892129C>G	gnomAD
rs1064793490	p.Thr78Ile	missense variant	-	NC_000010.11:g.86892129C>T	gnomAD
RCV000478543	p.His81Arg	missense variant	-	NC_000010.11:g.86892138A>G	ClinVar
rs1064793333	p.His81Leu	missense variant	-	NC_000010.11:g.86892138A>T	TOPMed
rs953797046	p.His81Tyr	missense variant	-	NC_000010.11:g.86892137C>T	TOPMed,gnomAD
rs1064793333	p.His81Arg	missense variant	-	NC_000010.11:g.86892138A>G	TOPMed
RCV000560576	p.His81Tyr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892137C>T	ClinVar
RCV000580728	p.His81Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892138A>G	ClinVar
RCV000694497	p.His81Leu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892138A>T	ClinVar
RCV000561451	p.His81Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892137C>T	ClinVar
RCV000567266	p.His81Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892138A>T	ClinVar
RCV000456263	p.Cys82Gly	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892140T>G	ClinVar
rs1554888310	p.Cys82Phe	missense variant	-	NC_000010.11:g.86892141G>T	-
rs759647230	p.Cys82Ter	stop gained	-	NC_000010.11:g.86892142C>A	ExAC,gnomAD
rs1060503406	p.Cys82Gly	missense variant	-	NC_000010.11:g.86892140T>G	-
RCV000574493	p.Cys82Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892141G>T	ClinVar
RCV000214108	p.Cys82Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892142C>A	ClinVar
VAR_022829	p.Cys82Tyr	Missense	Juvenile polyposis syndrome (JPS) [MIM:174900]	-	UniProt
RCV000168250	p.Phe83Ter	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892143_86892147del	ClinVar
rs1456980302	p.Ala84Thr	missense variant	-	NC_000010.11:g.86892146G>A	TOPMed
RCV000773974	p.Ala84Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892146G>A	ClinVar
RCV000801612	p.Ala84Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892146G>A	ClinVar
RCV000487158	p.Ile85Val	missense variant	-	NC_000010.11:g.86892149A>G	ClinVar
RCV000130327	p.Ile85Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892149A>G	ClinVar
RCV000206721	p.Ile85Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892149A>G	ClinVar
rs374739820	p.Ile85Val	missense variant	-	NC_000010.11:g.86892149A>G	ESP,ExAC,TOPMed,gnomAD
rs876659498	p.Ile86Thr	missense variant	-	NC_000010.11:g.86892153T>C	TOPMed
rs1554888312	p.Ile86Val	missense variant	-	NC_000010.11:g.86892152A>G	-
RCV000579713	p.Ile86Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892152A>G	ClinVar
RCV000819731	p.Ile86Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892152A>G	ClinVar
RCV000221898	p.Ile86Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892153T>C	ClinVar
rs730881431	p.Glu88Ter	stop gained	-	NC_000010.11:g.86892158G>T	-
RCV000493126	p.Glu88Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892158G>T	ClinVar
RCV000159835	p.Glu88Ter	nonsense	-	NC_000010.11:g.86892158G>T	ClinVar
COSM1349410	p.Asp89Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86892163T>A	NCI-TCGA Cosmic
RCV000573228	p.Gln91Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892167C>T	ClinVar
RCV000229144	p.Gln91Lys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892167C>A	ClinVar
RCV000583582	p.Gly92Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892171del	ClinVar
RCV000759482	p.Thr95Ala	missense variant	-	NC_000010.11:g.86892179A>G	ClinVar
RCV000804756	p.Thr95Ala	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892179A>G	ClinVar
rs1554888320	p.Leu96Val	missense variant	-	NC_000010.11:g.86892182T>G	-
RCV000566080	p.Leu96Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892182T>G	ClinVar
RCV000210116	p.Ala97Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892182_86892185dup	ClinVar
RCV000776966	p.Ser98Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892188T>G	ClinVar
RCV000700875	p.Ser98Ala	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892188T>G	ClinVar
rs756541429	p.Ser98Leu	missense variant	-	NC_000010.11:g.86892189C>T	ExAC,gnomAD
rs1554888323	p.Cys100Gly	missense variant	-	NC_000010.11:g.86892194T>G	-
RCV000562825	p.Cys100Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892194T>G	ClinVar
rs876658891	p.Tyr103Ter	stop gained	-	NC_000010.11:g.86892205T>G	-
RCV000218016	p.Tyr103Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892205T>G	ClinVar
COSM115934	p.Glu104Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86892206G>A	NCI-TCGA Cosmic
COSM6130295	p.Gly105Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86892210G>T	NCI-TCGA Cosmic
rs1554888328	p.Phe108Leu	missense variant	-	NC_000010.11:g.86892218T>C	-
RCV000635475	p.Phe108Leu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892218T>C	ClinVar
RCV000573819	p.Gln109Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892221del	ClinVar
NCI-TCGA novel	p.Gln109SerPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.86892216_86892217insT	NCI-TCGA
RCV000477480	p.Lys111Arg	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892228A>G	ClinVar
rs756944246	p.Lys111Arg	missense variant	-	NC_000010.11:g.86892228A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser113Tyr	missense variant	-	NC_000010.11:g.86899798C>A	NCI-TCGA
rs757608699	p.Pro114Leu	missense variant	-	NC_000010.11:g.86899801C>T	ExAC,gnomAD
rs1554888960	p.Pro114Ser	missense variant	-	NC_000010.11:g.86899800C>T	-
RCV000635442	p.Pro114Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899800C>T	ClinVar
rs765530870	p.Ala116Thr	missense variant	-	NC_000010.11:g.86899806G>A	ExAC,gnomAD
rs750097648	p.Ala116Val	missense variant	-	NC_000010.11:g.86899807C>T	ExAC,TOPMed,gnomAD
RCV000221176	p.Ala116Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899807C>T	ClinVar
rs1360094214	p.Gln117Arg	missense variant	-	NC_000010.11:g.86899810A>G	TOPMed
RCV000570895	p.Gln117Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899810A>G	ClinVar
RCV000131465	p.Leu118Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899812C>G	ClinVar
rs587782418	p.Leu118Val	missense variant	-	NC_000010.11:g.86899812C>G	-
RCV000805939	p.Arg119Cys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899815C>T	ClinVar
RCV000757030	p.Arg119Cys	missense variant	-	NC_000010.11:g.86899815C>T	ClinVar
RCV000692600	p.Arg119His	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899816G>A	ClinVar
RCV000579641	p.Arg119His	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899816G>A	ClinVar
rs1554888965	p.Arg119His	missense variant	-	NC_000010.11:g.86899816G>A	-
rs779661827	p.Arg120Trp	missense variant	-	NC_000010.11:g.86899818C>T	ExAC,gnomAD
rs1060503401	p.Arg120Gln	missense variant	-	NC_000010.11:g.86899819G>A	-
RCV000482494	p.Arg120Gln	missense variant	-	NC_000010.11:g.86899819G>A	ClinVar
RCV000467161	p.Arg120Gln	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899819G>A	ClinVar
RCV000486207	p.Thr121Ter	frameshift	-	NC_000010.11:g.86899820del	ClinVar
RCV000580329	p.Thr121Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899822C>T	ClinVar
rs1554888969	p.Thr121Ile	missense variant	-	NC_000010.11:g.86899822C>T	-
RCV000493948	p.Thr121Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899820del	ClinVar
rs1310807915	p.Ile122Val	missense variant	-	NC_000010.11:g.86899824A>G	gnomAD
rs1554888971	p.Ile122Thr	missense variant	-	NC_000010.11:g.86899825T>C	-
RCV000548319	p.Ile122Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899825T>C	ClinVar
RCV000635455	p.Glu123Ter	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899826_86899844del	ClinVar
RCV000494501	p.Glu123Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899827del	ClinVar
RCV000115828	p.Glu123Ter	frameshift	-	NC_000010.11:g.86899829del	ClinVar
rs587782388	p.Cys124Tyr	missense variant	-	NC_000010.11:g.86899831G>A	-
rs199476087	p.Cys124Arg	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899830T>C	UniProt,dbSNP
VAR_015533	p.Cys124Arg	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899830T>C	UniProt
RCV000131396	p.Cys124Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899831G>A	ClinVar
RCV000165949	p.Cys124Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899830T>C	ClinVar
RCV000493348	p.Cys125Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899833T>G	ClinVar
rs1131691180	p.Cys125Gly	missense variant	-	NC_000010.11:g.86899833T>G	-
RCV000779036	p.Cys125Ter	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899834del	ClinVar
rs781258592	p.Arg126Gly	missense variant	-	NC_000010.11:g.86899836C>G	ExAC,gnomAD
RCV000236577	p.Arg126Leu	missense variant	-	NC_000010.11:g.86899837G>T	ClinVar
RCV000206669	p.Arg126Leu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899837G>T	ClinVar
RCV000197535	p.Arg126Gly	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899836C>G	ClinVar
RCV000575950	p.Arg126Trp	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899836C>T	ClinVar
rs864622549	p.Arg126Gln	missense variant	-	NC_000010.11:g.86899837G>A	gnomAD
rs781258592	p.Arg126Trp	missense variant	-	NC_000010.11:g.86899836C>T	ExAC,gnomAD
rs864622549	p.Arg126Leu	missense variant	-	NC_000010.11:g.86899837G>T	gnomAD
rs864622549	p.Arg126Pro	missense variant	-	NC_000010.11:g.86899837G>C	gnomAD
RCV000691505	p.Arg126Gln	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899837G>A	ClinVar
RCV000584220	p.Arg126Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899837G>A	ClinVar
RCV000635481	p.Arg126Pro	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899837G>C	ClinVar
RCV000563616	p.Arg126Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899836C>G	ClinVar
RCV000479183	p.Asn128Ser	missense variant	-	NC_000010.11:g.86899843A>G	ClinVar
RCV000166089	p.Asn128Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899843A>G	ClinVar
rs375165807	p.Asn128Ser	missense variant	-	NC_000010.11:g.86899843A>G	ESP,ExAC,TOPMed,gnomAD
RCV000469945	p.Asn128Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899843A>G	ClinVar
RCV000493560	p.Cys130Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899848T>C	ClinVar
RCV000200107	p.Cys130Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899849G>C	ClinVar
rs1131691168	p.Cys130Arg	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899848T>C	UniProt,dbSNP
VAR_022830	p.Cys130Arg	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899848T>C	UniProt
rs1131691168	p.Cys130Arg	missense variant	-	NC_000010.11:g.86899848T>C	-
rs863224720	p.Cys130Ser	missense variant	-	NC_000010.11:g.86899849G>C	-
RCV000213228	p.Asn131Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899853C>A	ClinVar
rs786202136	p.Asn131Lys	missense variant	-	NC_000010.11:g.86899853C>G	-
rs786202136	p.Asn131Lys	missense variant	-	NC_000010.11:g.86899853C>A	-
RCV000164797	p.Asn131Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899853C>G	ClinVar
rs1344373156	p.Gln135Arg	missense variant	-	NC_000010.11:g.86899864A>G	gnomAD
RCV000214964	p.Pro136Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899865dup	ClinVar
rs1554888980	p.Pro136Leu	missense variant	-	NC_000010.11:g.86899867C>T	-
RCV000473459	p.Pro136Ter	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899865dup	ClinVar
RCV000635469	p.Pro136Leu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899867C>T	ClinVar
COSM4016401	p.Thr137Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86899870C>T	NCI-TCGA Cosmic
rs767385418	p.Leu138Pro	missense variant	-	NC_000010.11:g.86899873T>C	ExAC,gnomAD
rs767385418	p.Leu138Arg	missense variant	-	NC_000010.11:g.86899873T>G	ExAC,gnomAD
RCV000583841	p.Pro139Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899876C>G	ClinVar
rs1554888987	p.Pro139Arg	missense variant	-	NC_000010.11:g.86899876C>G	-
rs772163112	p.Pro139Ser	missense variant	-	NC_000010.11:g.86899875C>T	ExAC,gnomAD
RCV000686458	p.Pro139Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899875C>T	ClinVar
RCV000635425	p.Pro140Ter	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899879del	ClinVar
rs138478597	p.Pro140Ala	missense variant	-	NC_000010.11:g.86899878C>G	ESP,ExAC,TOPMed,gnomAD
RCV000580587	p.Pro140Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899879C>T	ClinVar
rs138478597	p.Pro140Ser	missense variant	-	NC_000010.11:g.86899878C>T	ESP,ExAC,TOPMed,gnomAD
rs1312138101	p.Pro140Leu	missense variant	-	NC_000010.11:g.86899879C>T	TOPMed
RCV000581937	p.Pro140Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899878C>T	ClinVar
RCV000526586	p.Pro140Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899878C>T	ClinVar
RCV000473238	p.Pro140Ala	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899878C>G	ClinVar
RCV000506566	p.Pro140Ser	missense variant	-	NC_000010.11:g.86899878C>T	ClinVar
NCI-TCGA novel	p.Pro140LeuPheSerTerUnk	frameshift	-	NC_000010.11:g.86899875C>-	NCI-TCGA
rs1244692883	p.Val141Ile	missense variant	-	NC_000010.11:g.86899881G>A	gnomAD
rs1442736321	p.Val141Ala	missense variant	-	NC_000010.11:g.86899882T>C	gnomAD
RCV000164147	p.Val141Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899880del	ClinVar
RCV000689735	p.Val142Leu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899884G>C	ClinVar
rs760739609	p.Ile143Leu	missense variant	-	NC_000010.11:g.86899887A>C	ExAC,TOPMed,gnomAD
rs760739609	p.Ile143Leu	missense variant	-	NC_000010.11:g.86899887A>T	ExAC,TOPMed,gnomAD
RCV000574707	p.Ile143Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899887A>G	ClinVar
rs760739609	p.Ile143Val	missense variant	-	NC_000010.11:g.86899887A>G	ExAC,TOPMed,gnomAD
RCV000581072	p.Ile143Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899887A>C	ClinVar
NCI-TCGA novel	p.Ile143MetPheSerTerUnk	frameshift	-	NC_000010.11:g.86899882_86899883insTGTCA	NCI-TCGA
RCV000215661	p.Gly144Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899890G>C	ClinVar
rs876658573	p.Gly144Arg	missense variant	-	NC_000010.11:g.86899890G>C	-
RCV000773372	p.Pro145Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900030C>T	ClinVar
RCV000120254	p.Phe146Ser	missense variant	-	NC_000010.11:g.86900033T>C	ClinVar
rs1554889007	p.Phe146Val	missense variant	-	NC_000010.11:g.86900032T>G	-
rs587778112	p.Phe146Ser	missense variant	-	NC_000010.11:g.86900033T>C	ExAC,gnomAD
RCV000547539	p.Phe146Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900032T>G	ClinVar
RCV000687903	p.Phe146Leu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900034T>G	ClinVar
rs371243894	p.Phe147Ser	missense variant	-	NC_000010.11:g.86900036T>C	ESP,ExAC,TOPMed,gnomAD
RCV000572583	p.Phe147Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900036T>C	ClinVar
RCV000701918	p.Phe147Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900036T>C	ClinVar
rs773689557	p.Gly149Val	missense variant	-	NC_000010.11:g.86900042G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser150Asn	missense variant	-	NC_000010.11:g.86900045G>A	NCI-TCGA
rs1554889010	p.Ile151Thr	missense variant	-	NC_000010.11:g.86900048T>C	-
RCV000583785	p.Ile151Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900048T>C	ClinVar
RCV000574904	p.Arg152Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900050C>G	ClinVar
RCV000635472	p.Arg152Gln	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900051G>A	ClinVar
rs567009904	p.Arg152Gln	missense variant	-	NC_000010.11:g.86900051G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1131691178	p.Arg152Gly	missense variant	-	NC_000010.11:g.86900050C>G	TOPMed
rs1131691178	p.Arg152Ter	stop gained	-	NC_000010.11:g.86900050C>T	TOPMed
RCV000564920	p.Arg152Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900051G>A	ClinVar
RCV000494036	p.Arg152Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900050C>T	ClinVar
rs567009904	p.Arg152Gln	missense variant	-	NC_000010.11:g.86900051G>A	NCI-TCGA
RCV000493870	p.Trp153Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900054G>A	ClinVar
rs1131691176	p.Trp153Ter	stop gained	-	NC_000010.11:g.86900054G>A	-
rs751260747	p.Leu157Arg	missense variant	-	NC_000010.11:g.86900066T>G	ExAC,gnomAD
RCV000691044	p.Ile158Leu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900068A>C	ClinVar
rs767157505	p.Ser159Pro	missense variant	-	NC_000010.11:g.86900071T>C	ExAC,gnomAD
RCV000580150	p.Ser159Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900071T>C	ClinVar
NCI-TCGA novel	p.Ser159Tyr	missense variant	-	NC_000010.11:g.86900072C>A	NCI-TCGA
rs145101532	p.Met160Val	missense variant	-	NC_000010.11:g.86900074A>G	ESP,ExAC,TOPMed,gnomAD
RCV000129348	p.Met160Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900074A>G	ClinVar
RCV000656783	p.Met160Val	missense variant	-	NC_000010.11:g.86900074A>G	ClinVar
RCV000763676	p.Met160Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900074A>G	ClinVar
RCV000205803	p.Met160Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900074A>G	ClinVar
RCV000481297	p.Met160Val	missense variant	-	NC_000010.11:g.86900074A>G	ClinVar
NCI-TCGA novel	p.Met160IlePheSerTerUnk	frameshift	-	NC_000010.11:g.86900075_86900076insTTCAGTGA	NCI-TCGA
RCV000493050	p.Ala161Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900077del	ClinVar
rs1443649142	p.Ala161Thr	missense variant	-	NC_000010.11:g.86900077G>A	gnomAD
rs142965096	p.Ile164Val	missense variant	-	NC_000010.11:g.86900086A>G	1000Genomes,ExAC,gnomAD
RCV000573874	p.Ile164Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900086A>G	ClinVar
rs763934014	p.Ile165Met	missense variant	-	NC_000010.11:g.86900091T>G	ExAC,gnomAD
rs1260484420	p.Ile165Thr	missense variant	-	NC_000010.11:g.86900090T>C	gnomAD
RCV000635426	p.Ala166Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900092G>A	ClinVar
rs971636078	p.Ala166Thr	missense variant	-	NC_000010.11:g.86900092G>A	-
RCV000772204	p.Ala166Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900092G>A	ClinVar
RCV000761022	p.Met167Leu	missense variant	Craniopharyngioma	NC_000010.11:g.86900095A>T	ClinVar
RCV000493778	p.Met167Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900095A>G	ClinVar
rs200951235	p.Met167Val	missense variant	-	NC_000010.11:g.86900095A>G	ESP,ExAC,TOPMed,gnomAD
rs200951235	p.Met167Leu	missense variant	-	NC_000010.11:g.86900095A>T	ESP,ExAC,TOPMed,gnomAD
RCV000166911	p.Met167Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900095A>T	ClinVar
rs778615896	p.Ile168Met	missense variant	-	NC_000010.11:g.86900100C>G	ExAC,gnomAD
RCV000165557	p.Ile168Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900100C>G	ClinVar
RCV000226965	p.Ile169Phe	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900101A>T	ClinVar
rs878854668	p.Ile169Phe	missense variant	-	NC_000010.11:g.86900101A>T	gnomAD
rs878854668	p.Ile169Val	missense variant	-	NC_000010.11:g.86900101A>G	gnomAD
RCV000565550	p.Ile169Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900101A>T	ClinVar
RCV000236060	p.Ile169Phe	missense variant	-	NC_000010.11:g.86900101A>T	ClinVar
RCV000608762	p.Phe170Pro	insertion	-	NC_000010.11:g.86900102_86900103insTCC	ClinVar
rs555873943	p.Phe170Cys	missense variant	-	NC_000010.11:g.86900105T>G	1000Genomes
rs377733546	p.Ser171Pro	missense variant	-	NC_000010.11:g.86900107T>C	ESP,ExAC,gnomAD
rs781286980	p.Ser171Cys	missense variant	-	NC_000010.11:g.86900108C>G	ExAC,gnomAD
RCV000775831	p.Ser171Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900108C>T	ClinVar
NCI-TCGA novel	p.Ser171ProPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.86900107T>-	NCI-TCGA
rs863224721	p.Cys173Trp	missense variant	-	NC_000010.11:g.86900115C>G	-
RCV000573423	p.Cys173Trp	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900115C>G	ClinVar
RCV000196338	p.Cys173Trp	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900115C>G	ClinVar
RCV000635417	p.Cys175Tyr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900120G>A	ClinVar
RCV000688030	p.Cys175Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900120G>C	ClinVar
RCV000167415	p.Cys175Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900120G>A	ClinVar
RCV000214413	p.Cys175Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900120G>C	ClinVar
rs370091063	p.Cys175Ser	missense variant	-	NC_000010.11:g.86900120G>C	ESP,ExAC,TOPMed,gnomAD
rs370091063	p.Cys175Tyr	missense variant	-	NC_000010.11:g.86900120G>A	ESP,ExAC,TOPMed,gnomAD
RCV000635460	p.Tyr176Cys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900123A>G	ClinVar
rs1554889024	p.Tyr176Cys	missense variant	-	NC_000010.11:g.86900123A>G	-
rs770387084	p.Tyr176Ter	stop gained	-	NC_000010.11:g.86900124C>A	ExAC,TOPMed,gnomAD
RCV000772992	p.Tyr176His	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900122T>C	ClinVar
COSM920996	p.Tyr179Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86912245A>G	NCI-TCGA Cosmic
rs1446889676	p.Lys181Arg	missense variant	-	NC_000010.11:g.86912251A>G	TOPMed
rs1341015567	p.Ser182Asn	missense variant	-	NC_000010.11:g.86912254G>A	gnomAD
RCV000635438	p.Ser184Leu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912260C>T	ClinVar
rs1131691185	p.Ser184Leu	missense variant	-	NC_000010.11:g.86912260C>T	-
rs1131691185	p.Ser184Ter	stop gained	-	NC_000010.11:g.86912260C>G	-
RCV000494378	p.Ser184Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912260C>G	ClinVar
rs1554890203	p.Ser185Cys	missense variant	-	NC_000010.11:g.86912262A>T	-
RCV000564854	p.Ser185Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912262A>T	ClinVar
RCV000458724	p.Arg187Cys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912268C>T	ClinVar
RCV000479869	p.Arg187His	missense variant	-	NC_000010.11:g.86912269G>A	ClinVar
rs189059377	p.Arg187His	missense variant	-	NC_000010.11:g.86912269G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs587782231	p.Arg187Cys	missense variant	-	NC_000010.11:g.86912268C>T	ExAC,gnomAD
RCV000130928	p.Arg187Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912268C>T	ClinVar
rs879254272	p.Arg188Cys	missense variant	-	NC_000010.11:g.86912271C>T	gnomAD
RCV000491978	p.Arg188Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912271C>T	ClinVar
rs749780872	p.Arg188His	missense variant	-	NC_000010.11:g.86912272G>A	ExAC,TOPMed,gnomAD
RCV000206361	p.Arg188His	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912272G>A	ClinVar
RCV000221059	p.Arg188His	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912272G>A	ClinVar
RCV000805843	p.Tyr189His	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912274T>C	ClinVar
RCV000777557	p.Tyr189His	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912274T>C	ClinVar
rs1554890213	p.Tyr189Ter	stop gained	-	NC_000010.11:g.86912276C>A	-
RCV000692187	p.Tyr189Ter	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912275dup	ClinVar
RCV000554511	p.Tyr189Ter	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912276C>A	ClinVar
rs574229174	p.Asn190Ser	missense variant	-	NC_000010.11:g.86912278A>G	1000Genomes,ExAC,gnomAD
rs574229174	p.Asn190Ile	missense variant	-	NC_000010.11:g.86912278A>T	1000Genomes,ExAC,gnomAD
rs771444196	p.Asn190Asp	missense variant	-	NC_000010.11:g.86912277A>G	ExAC,TOPMed,gnomAD
RCV000167437	p.Asn190Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912278A>G	ClinVar
RCV000123225	p.Asn190Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912278A>G	ClinVar
RCV000580053	p.Arg191Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912280C>T	ClinVar
rs1053423400	p.Arg191Cys	missense variant	-	NC_000010.11:g.86912280C>T	TOPMed,gnomAD
rs746231785	p.Arg191His	missense variant	-	NC_000010.11:g.86912281G>A	ExAC,TOPMed,gnomAD
rs1053423400	p.Arg191Cys	missense variant	-	NC_000010.11:g.86912280C>T	NCI-TCGA Cosmic
RCV000635416	p.Arg191Cys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912280C>T	ClinVar
RCV000543581	p.Arg191His	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912281G>A	ClinVar
RCV000573990	p.Arg191His	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912281G>A	ClinVar
RCV000482512	p.Arg191His	missense variant	-	NC_000010.11:g.86912281G>A	ClinVar
RCV000532814	p.Leu193Ter	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912287dup	ClinVar
rs1060503404	p.Leu193Phe	missense variant	-	NC_000010.11:g.86912288G>C	-
RCV000457968	p.Leu193Phe	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912288G>C	ClinVar
rs775295628	p.Gln195Leu	missense variant	-	NC_000010.11:g.86912293A>T	ExAC,TOPMed,gnomAD
RCV000586948	p.Gln195Lys	missense variant	-	NC_000010.11:g.86912292C>A	ClinVar
rs775295628	p.Gln195Arg	missense variant	-	NC_000010.11:g.86912293A>G	ExAC,TOPMed,gnomAD
rs771910503	p.Gln195Lys	missense variant	-	NC_000010.11:g.86912292C>A	ExAC,TOPMed,gnomAD
RCV000206242	p.Gln195Lys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912292C>A	ClinVar
RCV000575488	p.Gln195Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912293A>G	ClinVar
RCV000484852	p.Asp196Gly	missense variant	-	NC_000010.11:g.86912296A>G	ClinVar
RCV000473381	p.Asp196Gly	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912296A>G	ClinVar
rs141608069	p.Asp196Gly	missense variant	-	NC_000010.11:g.86912296A>G	ESP,ExAC,TOPMed,gnomAD
COSM685123	p.Asp196Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86912296A>T	NCI-TCGA Cosmic
RCV000766536	p.Asp196Gly	missense variant	-	NC_000010.11:g.86912296A>G	ClinVar
RCV000777241	p.Asp196Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912296A>G	ClinVar
rs763548019	p.Glu197Ala	missense variant	-	NC_000010.11:g.86912299A>C	ExAC,gnomAD
rs776160961	p.Ala198Glu	missense variant	-	NC_000010.11:g.86912302C>A	ExAC,TOPMed,gnomAD
RCV000777614	p.Ala198Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912302C>T	ClinVar
rs1297422277	p.Phe199Ile	missense variant	-	NC_000010.11:g.86912304T>A	gnomAD
rs879254158	p.Val202Ala	missense variant	-	NC_000010.11:g.86912314T>C	-
RCV000235959	p.Val202Ala	missense variant	-	NC_000010.11:g.86912314T>C	ClinVar
rs878854670	p.Val202Phe	missense variant	-	NC_000010.11:g.86912313G>T	-
RCV000227718	p.Val202Phe	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912313G>T	ClinVar
rs587782748	p.Gly203Glu	missense variant	-	NC_000010.11:g.86912317G>A	gnomAD
rs587782748	p.Gly203Glu	missense variant	-	NC_000010.11:g.86912317G>A	NCI-TCGA
RCV000132254	p.Gly203Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912317G>A	ClinVar
COSM920998	p.Gly203Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86912317G>C	NCI-TCGA Cosmic
RCV000479389	p.Leu206Val	missense variant	-	NC_000010.11:g.86912325C>G	ClinVar
rs1064793512	p.Leu206Val	missense variant	-	NC_000010.11:g.86912325C>G	-
RCV000507885	p.Lys207Arg	missense variant	-	NC_000010.11:g.86912329A>G	ClinVar
rs1554890228	p.Lys207Arg	missense variant	-	NC_000010.11:g.86912329A>G	-
COSM921000	p.Asp208Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86912331G>T	NCI-TCGA Cosmic
rs1334589004	p.Leu209Phe	missense variant	-	NC_000010.11:g.86912334C>T	gnomAD
NCI-TCGA novel	p.Leu209Ile	missense variant	-	NC_000010.11:g.86912334C>A	NCI-TCGA
rs730881432	p.Ile210Thr	missense variant	-	NC_000010.11:g.86912338T>C	ExAC,gnomAD
rs750274275	p.Ile210Val	missense variant	-	NC_000010.11:g.86912337A>G	ExAC,gnomAD
RCV000159836	p.Ile210Thr	missense variant	-	NC_000010.11:g.86912338T>C	ClinVar
RCV000772717	p.Ile210Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912338T>C	ClinVar
RCV000796745	p.Ile210Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912338T>C	ClinVar
RCV000562215	p.Ile210Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912337A>G	ClinVar
RCV000635471	p.Gln212Lys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912343C>A	ClinVar
rs876658138	p.Gln212Glu	missense variant	-	NC_000010.11:g.86912343C>G	TOPMed,gnomAD
rs876658138	p.Gln212Lys	missense variant	-	NC_000010.11:g.86912343C>A	TOPMed,gnomAD
RCV000217755	p.Gln212Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912343C>A	ClinVar
RCV000480249	p.Gln212Lys	missense variant	-	NC_000010.11:g.86912343C>A	ClinVar
rs1305429176	p.Gln214Lys	missense variant	-	NC_000010.11:g.86912349C>A	gnomAD
RCV000582831	p.Gln214Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912349C>A	ClinVar
RCV000691450	p.Gln214Lys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912349C>A	ClinVar
RCV000575085	p.Ser215Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912353G>A	ClinVar
rs1554890233	p.Ser215Asn	missense variant	-	NC_000010.11:g.86912353G>A	-
rs766093107	p.Gly217Cys	missense variant	-	NC_000010.11:g.86912358G>T	ExAC,gnomAD
rs752893921	p.Ser218Thr	missense variant	-	NC_000010.11:g.86912362G>C	ExAC,gnomAD
rs752893921	p.Ser218Asn	missense variant	-	NC_000010.11:g.86912362G>A	ExAC,gnomAD
RCV000700647	p.Ser218Gly	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912361A>G	ClinVar
rs878854671	p.Gly219Glu	missense variant	-	NC_000010.11:g.86912365G>A	-
RCV000230480	p.Gly219Glu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912365G>A	ClinVar
RCV000776724	p.Gly221Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912371G>A	ClinVar
rs756310331	p.Leu224Ile	missense variant	-	NC_000010.11:g.86912379T>A	ExAC,gnomAD
RCV000693404	p.Leu225Ter	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912383del	ClinVar
RCV000123228	p.Val226Phe	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917134G>T	ClinVar
RCV000777011	p.Val226Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917134G>A	ClinVar
rs587780110	p.Val226Phe	missense variant	-	NC_000010.11:g.86917134G>T	ExAC,TOPMed,gnomAD
RCV000561750	p.Val226Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917134G>T	ClinVar
RCV000515164	p.Val226Phe	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917134G>T	ClinVar
RCV000656784	p.Val226Phe	missense variant	-	NC_000010.11:g.86917134G>T	ClinVar
RCV000115829	p.Val226Phe	missense variant	-	NC_000010.11:g.86917134G>T	ClinVar
rs747371306	p.Arg228Gln	missense variant	-	NC_000010.11:g.86917141G>A	ExAC,gnomAD
rs587782682	p.Arg228Ter	stop gained	-	NC_000010.11:g.86917140C>T	ExAC,TOPMed,gnomAD
RCV000132109	p.Arg228Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917140C>T	ClinVar
RCV000475579	p.Arg228Ter	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917140C>T	ClinVar
NCI-TCGA novel	p.Thr229Ser	missense variant	-	NC_000010.11:g.86917143A>T	NCI-TCGA
rs730881433	p.Ile230Val	missense variant	-	NC_000010.11:g.86917146A>G	ExAC,gnomAD
RCV000159837	p.Ile230Val	missense variant	-	NC_000010.11:g.86917146A>G	ClinVar
RCV000779845	p.Ile230Val	missense variant	-	NC_000010.11:g.86917146A>G	ClinVar
rs1161175030	p.Ala231Thr	missense variant	-	NC_000010.11:g.86917149G>A	gnomAD
rs587781341	p.Lys232Arg	missense variant	-	NC_000010.11:g.86917153A>G	gnomAD
RCV000129114	p.Lys232Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917153A>G	ClinVar
RCV000773688	p.Lys232Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917152A>G	ClinVar
rs1554890743	p.Gln233Ter	stop gained	-	NC_000010.11:g.86917155C>T	-
RCV000522325	p.Gln233Ter	nonsense	-	NC_000010.11:g.86917155C>T	ClinVar
RCV000635419	p.Gln235Glu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917161C>G	ClinVar
rs1554890745	p.Gln235Glu	missense variant	-	NC_000010.11:g.86917161C>G	-
rs1347027954	p.Met236Thr	missense variant	-	NC_000010.11:g.86917165T>C	gnomAD
rs1303164661	p.Met236Val	missense variant	-	NC_000010.11:g.86917164A>G	gnomAD
RCV000584676	p.Met236Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917165T>C	ClinVar
RCV000695522	p.Met236Ile	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917166G>A	ClinVar
RCV000129721	p.Arg238Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917171G>A	ClinVar
RCV000236672	p.Arg238Gln	missense variant	-	NC_000010.11:g.86917171G>A	ClinVar
rs747728399	p.Arg238Gly	missense variant	-	NC_000010.11:g.86917170C>G	ExAC,TOPMed,gnomAD
rs191742018	p.Arg238Gln	missense variant	-	NC_000010.11:g.86917171G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs747728399	p.Arg238Trp	missense variant	-	NC_000010.11:g.86917170C>T	NCI-TCGA
RCV000557396	p.Arg238Gly	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917170C>G	ClinVar
RCV000564877	p.Arg238Trp	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917170C>T	ClinVar
RCV000520400	p.Arg238Gly	missense variant	-	NC_000010.11:g.86917170C>G	ClinVar
rs747728399	p.Arg238Trp	missense variant	-	NC_000010.11:g.86917170C>T	ExAC,TOPMed,gnomAD
RCV000635447	p.Arg238Trp	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917170C>T	ClinVar
RCV000581103	p.Arg238Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917170C>G	ClinVar
RCV000583131	p.Gln239Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917173C>A	ClinVar
RCV000008713	p.Gln239Ter	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917173C>T	ClinVar
RCV000470969	p.Val240Ile	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917176G>A	ClinVar
rs1060503405	p.Val240Ile	missense variant	-	NC_000010.11:g.86917176G>A	gnomAD
rs1554890758	p.Gly241Asp	missense variant	-	NC_000010.11:g.86917180G>A	-
RCV000560943	p.Gly241Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917180G>A	ClinVar
rs1226033707	p.Gly241Ser	missense variant	-	NC_000010.11:g.86917179G>A	gnomAD
RCV000566364	p.Gly241Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917179G>A	ClinVar
rs762926637	p.Lys242Arg	missense variant	-	NC_000010.11:g.86917183A>G	ExAC,gnomAD
RCV000580544	p.Lys242Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917183A>G	ClinVar
rs759363072	p.Arg244Ter	stop gained	-	NC_000010.11:g.86917188C>T	ExAC,TOPMed,gnomAD
rs759363072	p.Arg244Gly	missense variant	-	NC_000010.11:g.86917188C>G	ExAC,TOPMed,gnomAD
rs147971049	p.Arg244Gln	missense variant	-	NC_000010.11:g.86917189G>A	ESP,ExAC,TOPMed,gnomAD
RCV000472993	p.Arg244Gln	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917189G>A	ClinVar
RCV000686857	p.Arg244Ter	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917188C>T	ClinVar
RCV000850053	p.Arg244Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917188C>T	ClinVar
RCV000567827	p.Arg244Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917189G>A	ClinVar
RCV000481831	p.Arg244Ter	nonsense	-	NC_000010.11:g.86917188C>T	ClinVar
RCV000231232	p.Tyr245Asn	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917191T>A	ClinVar
rs369012159	p.Tyr245Asn	missense variant	-	NC_000010.11:g.86917191T>A	ESP,ExAC,TOPMed,gnomAD
RCV000635449	p.Tyr245Ter	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917189dup	ClinVar
RCV000589200	p.Tyr245Asn	missense variant	-	NC_000010.11:g.86917191T>A	ClinVar
rs1131691182	p.Tyr245Ter	stop gained	-	NC_000010.11:g.86917193T>G	-
COSM271128	p.Tyr245Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86917192A>G	NCI-TCGA Cosmic
RCV000494258	p.Tyr245Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917193T>G	ClinVar
RCV000130665	p.Tyr245Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917191T>A	ClinVar
COSM685121	p.Gly246Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86917194G>C	NCI-TCGA Cosmic
RCV000758778	p.Met250Ile	missense variant	-	NC_000010.11:g.86917208G>A	ClinVar
rs762087997	p.Met250Leu	missense variant	-	NC_000010.11:g.86917206A>T	ExAC,gnomAD
RCV000586264	p.Met250Thr	missense variant	-	NC_000010.11:g.86917207T>C	ClinVar
rs587780783	p.Met250Thr	missense variant	-	NC_000010.11:g.86917207T>C	ExAC,TOPMed,gnomAD
RCV000573680	p.Gly251Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917210G>A	ClinVar
RCV000545911	p.Gly251Cys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917209G>T	ClinVar
rs1554890768	p.Gly251Asp	missense variant	-	NC_000010.11:g.86917210G>A	-
rs750513716	p.Gly251Cys	missense variant	-	NC_000010.11:g.86917209G>T	ExAC,gnomAD
rs1554890768	p.Gly251Asp	missense variant	-	NC_000010.11:g.86917210G>A	NCI-TCGA
RCV000587600	p.Gly251Cys	missense variant	-	NC_000010.11:g.86917209G>T	ClinVar
RCV000569001	p.Gly251Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917209G>T	ClinVar
RCV000635454	p.Lys252Arg	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917213A>G	ClinVar
rs1554890769	p.Lys252Arg	missense variant	-	NC_000010.11:g.86917213A>G	-
NCI-TCGA novel	p.Trp253Ter	stop gained	-	NC_000010.11:g.86917216G>A	NCI-TCGA
RCV000200056	p.Arg254Cys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917218C>T	ClinVar
RCV000515265	p.Arg254Cys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917218C>T	ClinVar
rs766908700	p.Arg254His	missense variant	-	NC_000010.11:g.86917219G>A	NCI-TCGA
RCV000218230	p.Arg254Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917219G>T	ClinVar
rs766908700	p.Arg254Leu	missense variant	-	NC_000010.11:g.86917219G>T	ExAC,TOPMed,gnomAD
rs766908700	p.Arg254Pro	missense variant	-	NC_000010.11:g.86917219G>C	ExAC,TOPMed,gnomAD
rs766908700	p.Arg254His	missense variant	-	NC_000010.11:g.86917219G>A	ExAC,TOPMed,gnomAD
rs587782578	p.Arg254Cys	missense variant	-	NC_000010.11:g.86917218C>T	ExAC,TOPMed,gnomAD
RCV000484680	p.Arg254Cys	missense variant	-	NC_000010.11:g.86917218C>T	ClinVar
RCV000569876	p.Arg254Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917219G>C	ClinVar
RCV000461599	p.Arg254His	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917219G>A	ClinVar
rs755372473	p.Glu256Lys	missense variant	-	NC_000010.11:g.86917224G>A	ExAC,TOPMed,gnomAD
rs755372473	p.Glu256Lys	missense variant	-	NC_000010.11:g.86917224G>A	NCI-TCGA
rs1554890784	p.Lys257Glu	missense variant	-	NC_000010.11:g.86917227A>G	-
RCV000575124	p.Lys257Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917227A>G	ClinVar
NCI-TCGA novel	p.Lys257Asn	missense variant	-	NC_000010.11:g.86917229A>T	NCI-TCGA
RCV000227192	p.Val258Ter	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917229del	ClinVar
rs905457708	p.Ala259Val	missense variant	-	NC_000010.11:g.86917234C>T	TOPMed,gnomAD
RCV000576012	p.Ala259Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917234C>T	ClinVar
RCV000587159	p.Ala259Val	missense variant	-	NC_000010.11:g.86917234C>T	ClinVar
rs905457708	p.Ala259Val	missense variant	-	NC_000010.11:g.86917234C>T	NCI-TCGA
rs755740570	p.Val260Gly	missense variant	-	NC_000010.11:g.86917237T>G	ExAC,gnomAD
rs777305118	p.Lys261Glu	missense variant	-	NC_000010.11:g.86917239A>G	ExAC,gnomAD
rs770830310	p.Val262Ala	missense variant	-	NC_000010.11:g.86917243T>C	ExAC,TOPMed,gnomAD
RCV000466256	p.Val262Ala	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917243T>C	ClinVar
rs748790017	p.Val262Ile	missense variant	-	NC_000010.11:g.86917242G>A	ExAC,TOPMed
rs770830310	p.Val262Gly	missense variant	-	NC_000010.11:g.86917243T>G	ExAC,TOPMed,gnomAD
rs770830310	p.Val262Glu	missense variant	-	NC_000010.11:g.86917243T>A	ExAC,TOPMed,gnomAD
RCV000679550	p.Val262Ala	missense variant	-	NC_000010.11:g.86917243T>C	ClinVar
RCV000573612	p.Val262Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917243T>C	ClinVar
rs775377247	p.Phe264Ser	missense variant	-	NC_000010.11:g.86917249T>C	ExAC,gnomAD
RCV000483613	p.Thr265Ile	missense variant	-	NC_000010.11:g.86917252C>T	ClinVar
rs1064793937	p.Thr265Ile	missense variant	-	NC_000010.11:g.86917252C>T	-
RCV000567379	p.Thr266Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917255C>G	ClinVar
rs1554890797	p.Thr266Ser	missense variant	-	NC_000010.11:g.86917255C>G	-
rs1273972467	p.Thr266Ala	missense variant	-	NC_000010.11:g.86917254A>G	gnomAD
NCI-TCGA novel	p.Glu267Ter	stop gained	-	NC_000010.11:g.86917257G>T	NCI-TCGA
NCI-TCGA novel	p.Glu268Ter	stop gained	-	NC_000010.11:g.86917260G>T	NCI-TCGA
rs199476085	p.Trp271Ter	stop gained	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86917270G>A	-
RCV000008714	p.Trp271Ter	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917270G>A	ClinVar
rs762178061	p.Arg273Gln	missense variant	-	NC_000010.11:g.86917276G>A	ExAC,TOPMed,gnomAD
rs587782400	p.Arg273Ter	stop gained	-	NC_000010.11:g.86917275C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000131433	p.Arg273Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917275C>T	ClinVar
rs587782400	p.Arg273Ter	stop gained	-	NC_000010.11:g.86917275C>T	-
RCV000229057	p.Arg273Ter	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917275C>T	ClinVar
RCV000482559	p.Arg273Ter	nonsense	-	NC_000010.11:g.86917275C>T	ClinVar
RCV000130286	p.Glu276Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917284_86917285del	ClinVar
RCV000705148	p.Glu276Ter	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917284_86917285del	ClinVar
RCV000460344	p.Ile277Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917287A>G	ClinVar
rs1060503400	p.Ile277Val	missense variant	-	NC_000010.11:g.86917287A>G	-
RCV000560723	p.Tyr278Ter	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917292C>A	ClinVar
rs1230919713	p.Tyr278Ter	stop gained	-	NC_000010.11:g.86917292C>A	gnomAD
NCI-TCGA novel	p.Tyr278Cys	missense variant	-	NC_000010.11:g.86917291A>G	NCI-TCGA
rs1469597503	p.Gln279Pro	missense variant	-	NC_000010.11:g.86917294A>C	gnomAD
RCV000812306	p.Thr280Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917297C>G	ClinVar
rs1064793497	p.Thr280Ser	missense variant	-	NC_000010.11:g.86917297C>G	gnomAD
RCV000485913	p.Thr280Ser	missense variant	-	NC_000010.11:g.86917297C>G	ClinVar
rs141625907	p.Val281Met	missense variant	-	NC_000010.11:g.86917299G>A	ESP
RCV000493216	p.Val281Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917299G>A	ClinVar
rs1386615932	p.Leu282Pro	missense variant	-	NC_000010.11:g.86917303T>C	gnomAD
RCV000686579	p.Met283Ter	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917305dup	ClinVar
NCI-TCGA novel	p.Met283Thr	missense variant	-	NC_000010.11:g.86917306T>C	NCI-TCGA
rs765530074	p.Arg284Cys	missense variant	-	NC_000010.11:g.86917308C>T	ExAC,gnomAD
rs765530074	p.Arg284Gly	missense variant	-	NC_000010.11:g.86917308C>G	ExAC,gnomAD
RCV000230699	p.Arg284Cys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917308C>T	ClinVar
RCV000771718	p.Arg284Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917308C>T	ClinVar
rs1162302623	p.His285Asn	missense variant	-	NC_000010.11:g.86917311C>A	gnomAD
COSM4845907	p.Glu286Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86917314G>A	NCI-TCGA Cosmic
rs763135904	p.Asn287Tyr	missense variant	-	NC_000010.11:g.86917317A>T	ExAC,gnomAD
COSM4016403	p.Asn287Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86917318A>G	NCI-TCGA Cosmic
RCV000708675	p.Ile288Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917322A>G	ClinVar
RCV000635448	p.Leu289Ter	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917322dup	ClinVar
rs876660596	p.Gly290Ala	missense variant	-	NC_000010.11:g.86919172G>C	-
RCV000815608	p.Gly290Ala	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919172G>C	ClinVar
RCV000213715	p.Gly290Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919172G>C	ClinVar
rs746800007	p.Ile292Val	missense variant	-	NC_000010.11:g.86919177A>G	ExAC,TOPMed,gnomAD
RCV000567580	p.Ile292Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919177dup	ClinVar
rs876659988	p.Asp295GlySerTerArgUnk	stop gained	-	NC_000010.11:g.86919187delinsGTTCATAGCGG	-
RCV000222176	p.Asp295GlySerTer	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919187delinsGTTCATAGCGG	ClinVar
RCV000527955	p.Ile296Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919189A>G	ClinVar
rs1554891019	p.Ile296Val	missense variant	-	NC_000010.11:g.86919189A>G	-
rs1554891022	p.Ile296Thr	missense variant	-	NC_000010.11:g.86919190T>C	-
RCV000635478	p.Ile296Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919190T>C	ClinVar
RCV000758780	p.Gly298Ser	missense variant	-	NC_000010.11:g.86919195G>A	ClinVar
rs876660756	p.Thr299Ala	missense variant	-	NC_000010.11:g.86919198A>G	-
RCV000581360	p.Thr299Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919199C>G	ClinVar
rs1219651963	p.Thr299Arg	missense variant	-	NC_000010.11:g.86919199C>G	TOPMed
rs1219651963	p.Thr299Lys	missense variant	-	NC_000010.11:g.86919199C>A	TOPMed
RCV000221198	p.Thr299Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919198A>G	ClinVar
rs763040797	p.Gly300Arg	missense variant	-	NC_000010.11:g.86919201G>C	ExAC,gnomAD
rs763040797	p.Gly300Ser	missense variant	-	NC_000010.11:g.86919201G>A	ExAC,gnomAD
rs983870066	p.Ser301Thr	missense variant	-	NC_000010.11:g.86919204T>A	TOPMed
rs876660939	p.Ser301Tyr	missense variant	-	NC_000010.11:g.86919205C>A	TOPMed,gnomAD
RCV000533725	p.Ser301Tyr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919205C>A	ClinVar
RCV000217554	p.Ser301Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919205C>A	ClinVar
RCV000796584	p.Thr303Ala	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919210A>G	ClinVar
RCV000582620	p.Thr303Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919210A>G	ClinVar
rs1554891025	p.Thr303Ala	missense variant	-	NC_000010.11:g.86919210A>G	-
rs1404557708	p.Gln304Ter	stop gained	-	NC_000010.11:g.86919213C>T	gnomAD
RCV000548904	p.Gln304Lys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919213C>A	ClinVar
rs730881434	p.Gln304Arg	missense variant	-	NC_000010.11:g.86919214A>G	ExAC,gnomAD
RCV000159838	p.Gln304Arg	missense variant	-	NC_000010.11:g.86919214A>G	ClinVar
RCV000411865	p.Gln304Arg	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919214A>G	ClinVar
RCV000635424	p.Gln304Ter	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919213C>T	ClinVar
RCV000766554	p.Gln304Arg	missense variant	-	NC_000010.11:g.86919214A>G	ClinVar
rs1404557708	p.Gln304Lys	missense variant	-	NC_000010.11:g.86919213C>A	gnomAD
NCI-TCGA novel	p.Gln304His	missense variant	-	NC_000010.11:g.86919215G>C	NCI-TCGA
rs1453306253	p.Leu305Arg	missense variant	-	NC_000010.11:g.86919217T>G	gnomAD
RCV000464837	p.Tyr306Cys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919220A>G	ClinVar
rs955604329	p.Tyr306Cys	missense variant	-	NC_000010.11:g.86919220A>G	gnomAD
RCV000459435	p.Ile308Ter	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919220_86919223dup	ClinVar
rs1276976514	p.Thr309Ser	missense variant	-	NC_000010.11:g.86919229C>G	TOPMed
RCV000583398	p.Thr309Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919229C>G	ClinVar
RCV000466694	p.His312Ter	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919237del	ClinVar
rs1437385150	p.His312Tyr	missense variant	-	NC_000010.11:g.86919237C>T	TOPMed
RCV000758781	p.Asn314Ser	missense variant	-	NC_000010.11:g.86919244A>G	ClinVar
RCV000694892	p.Asn314Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919244A>G	ClinVar
rs730881435	p.Gly315Arg	missense variant	-	NC_000010.11:g.86919246G>A	gnomAD
rs730881435	p.Gly315Ter	stop gained	-	NC_000010.11:g.86919246G>T	gnomAD
RCV000463009	p.Gly315Arg	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919246G>A	ClinVar
RCV000235117	p.Gly315Arg	missense variant	-	NC_000010.11:g.86919246G>A	ClinVar
RCV000159839	p.Gly315Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919246G>A	ClinVar
RCV000635452	p.Ser316Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919249T>A	ClinVar
rs1554891039	p.Ser316Thr	missense variant	-	NC_000010.11:g.86919249T>A	-
rs587778111	p.Tyr318Ser	missense variant	-	NC_000010.11:g.86919256A>C	ExAC,gnomAD
RCV000567105	p.Tyr318Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919256A>G	ClinVar
RCV000656785	p.Tyr318Cys	missense variant	-	NC_000010.11:g.86919256A>G	ClinVar
RCV000462820	p.Tyr318Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919256A>C	ClinVar
RCV000120250	p.Tyr318Cys	missense variant	-	NC_000010.11:g.86919256A>G	ClinVar
RCV000775810	p.Tyr318Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919256A>C	ClinVar
RCV000410175	p.Tyr318Cys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919256A>G	ClinVar
rs587778111	p.Tyr318Cys	missense variant	-	NC_000010.11:g.86919256A>G	ExAC,gnomAD
RCV000527295	p.Phe320Ter	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919260dup	ClinVar
RCV000563459	p.Phe320Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919264del	ClinVar
RCV000492964	p.Lys322Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919267A>T	ClinVar
rs1131691167	p.Lys322Ter	stop gained	-	NC_000010.11:g.86919267A>T	gnomAD
rs1131691167	p.Lys322Gln	missense variant	-	NC_000010.11:g.86919267A>C	gnomAD
RCV000570171	p.Cys323Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919270T>C	ClinVar
rs876660750	p.Cys323Ser	missense variant	-	NC_000010.11:g.86919270T>A	-
rs187780646	p.Cys323Tyr	missense variant	-	NC_000010.11:g.86919271G>A	1000Genomes,ExAC
RCV000457915	p.Cys323Arg	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919270T>C	ClinVar
rs876660750	p.Cys323Arg	missense variant	-	NC_000010.11:g.86919270T>C	-
RCV000216595	p.Cys323Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919270T>A	ClinVar
rs1554891047	p.Thr325Ala	missense variant	-	NC_000010.11:g.86919276A>G	-
RCV000541894	p.Thr325Ala	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919276A>G	ClinVar
RCV000777203	p.Thr325Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919276A>G	ClinVar
RCV000582761	p.Leu326Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919279C>G	ClinVar
rs1554891050	p.Leu326Val	missense variant	-	NC_000010.11:g.86919279C>G	-
rs764376409	p.Asp327Gly	missense variant	-	NC_000010.11:g.86919283A>G	ExAC,gnomAD
rs1554891053	p.Thr328Ser	missense variant	-	NC_000010.11:g.86919286C>G	-
RCV000526492	p.Thr328Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919286C>G	ClinVar
RCV000779840	p.Arg329Lys	missense variant	-	NC_000010.11:g.86919289G>A	ClinVar
RCV000541085	p.Arg329Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919289G>C	ClinVar
RCV000465582	p.Arg329Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919290A>C	ClinVar
rs1554891054	p.Arg329Thr	missense variant	-	NC_000010.11:g.86919289G>C	-
rs753521037	p.Arg329Ser	missense variant	-	NC_000010.11:g.86919290A>C	ExAC,gnomAD
RCV000657424	p.Arg329Ter	frameshift	-	NC_000010.11:g.86919290_86919295delinsTGTA	ClinVar
RCV000588080	p.Arg329Ser	missense variant	-	NC_000010.11:g.86919290A>C	ClinVar
RCV000561962	p.Arg329Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919290A>C	ClinVar
NCI-TCGA novel	p.Arg329Ile	missense variant	-	NC_000010.11:g.86919289G>T	NCI-TCGA
rs927151124	p.Ala330Thr	missense variant	-	NC_000010.11:g.86919291G>A	TOPMed
rs587782092	p.Ala330Val	missense variant	-	NC_000010.11:g.86919292C>T	gnomAD
RCV000456972	p.Ala330Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919291G>A	ClinVar
RCV000130601	p.Ala330Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919292C>T	ClinVar
rs1554891064	p.Leu331Val	missense variant	-	NC_000010.11:g.86919294C>G	-
RCV000580998	p.Leu331Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919294C>G	ClinVar
rs1064793886	p.Leu332Pro	missense variant	-	NC_000010.11:g.86919298T>C	gnomAD
RCV000584023	p.Leu332Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919298T>C	ClinVar
RCV000484515	p.Leu332Pro	missense variant	-	NC_000010.11:g.86919298T>C	ClinVar
rs1480528360	p.Lys333Asn	missense variant	-	NC_000010.11:g.86919302A>T	TOPMed,gnomAD
rs915929375	p.Leu334Ser	missense variant	-	NC_000010.11:g.86919304T>C	TOPMed
rs749873461	p.Leu334Met	missense variant	-	NC_000010.11:g.86919303T>A	ExAC,gnomAD
rs876658840	p.Tyr336His	missense variant	-	NC_000010.11:g.86919309T>C	-
RCV000216334	p.Tyr336His	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919309T>C	ClinVar
rs1554891075	p.Ser337Ter	stop gained	-	NC_000010.11:g.86919313C>A	-
rs1554891075	p.Ser337Leu	missense variant	-	NC_000010.11:g.86919313C>T	-
RCV000569696	p.Ser337Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919313C>A	ClinVar
RCV000582821	p.Ser337Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919313C>T	ClinVar
rs199476086	p.Ala338Val	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86919316C>T	TOPMed
RCV000566713	p.Ala338Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919316C>A	ClinVar
rs199476086	p.Ala338Asp	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86919316C>A	TOPMed
rs199476086	p.Ala338Asp	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919316C>A	UniProt,dbSNP
VAR_015534	p.Ala338Asp	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919316C>A	UniProt
rs758432395	p.Ala339Thr	missense variant	-	NC_000010.11:g.86919318G>A	ExAC,gnomAD
RCV000703322	p.Gly341Asp	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919325G>A	ClinVar
RCV000562882	p.Gly341Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919324G>A	ClinVar
rs1554891077	p.Gly341Cys	missense variant	-	NC_000010.11:g.86919324G>T	-
RCV000564091	p.Gly341Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919324G>T	ClinVar
rs1554891077	p.Gly341Ser	missense variant	-	NC_000010.11:g.86919324G>A	-
COSM1349414	p.Gly341Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86919324G>C	NCI-TCGA Cosmic
RCV000131740	p.His346Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919340A>G	ClinVar
rs587782536	p.His346Arg	missense variant	-	NC_000010.11:g.86919340A>G	-
rs1060503398	p.Glu348Gln	missense variant	-	NC_000010.11:g.86919345G>C	-
RCV000472607	p.Glu348Gln	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919345G>C	ClinVar
RCV000579475	p.Glu348Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919347A>C	ClinVar
rs781082609	p.Glu348Asp	missense variant	-	NC_000010.11:g.86919347A>T	ExAC,gnomAD
rs781082609	p.Glu348Asp	missense variant	-	NC_000010.11:g.86919347A>C	ExAC,gnomAD
RCV000548785	p.Glu348Asp	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919347A>T	ClinVar
NCI-TCGA novel	p.Ile349Met	missense variant	-	NC_000010.11:g.86919350T>G	NCI-TCGA
rs749571434	p.Tyr350His	missense variant	-	NC_000010.11:g.86919351T>C	ExAC,gnomAD
RCV000820356	p.Tyr350His	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919351T>C	ClinVar
RCV000759474	p.Tyr350His	missense variant	-	NC_000010.11:g.86919351T>C	ClinVar
RCV000575787	p.Tyr350His	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919351T>C	ClinVar
RCV000527621	p.Gln353Arg	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919361A>G	ClinVar
RCV000580162	p.Gln353Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919361A>G	ClinVar
rs1405441693	p.Gln353Arg	missense variant	-	NC_000010.11:g.86919361A>G	TOPMed
RCV000493671	p.Gly354Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919361_86919362dup	ClinVar
rs1406950391	p.Gly354Ala	missense variant	-	NC_000010.11:g.86919364G>C	gnomAD
RCV000569032	p.Gly354Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919364del	ClinVar
RCV000776619	p.Lys355Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919368del	ClinVar
rs774555805	p.Pro356Ser	missense variant	-	NC_000010.11:g.86919369C>T	ExAC,gnomAD
RCV000572363	p.Pro356Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919369C>T	ClinVar
rs201509164	p.Ala357Ser	missense variant	-	NC_000010.11:g.86919372G>T	ExAC,TOPMed,gnomAD
rs201509164	p.Ala357Thr	missense variant	-	NC_000010.11:g.86919372G>A	ExAC,TOPMed,gnomAD
RCV000478306	p.Ala357Thr	missense variant	-	NC_000010.11:g.86919372G>A	ClinVar
rs201509164	p.Ala357Thr	missense variant	-	NC_000010.11:g.86919372G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000567914	p.Ala357Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919372G>A	ClinVar
RCV000461013	p.Ala357Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919372G>A	ClinVar
COSM3415309	p.His360Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86919381C>G	NCI-TCGA Cosmic
rs764466442	p.Arg361Ter	stop gained	-	NC_000010.11:g.86919384C>T	ExAC,TOPMed,gnomAD
rs764466442	p.Arg361Ter	stop gained	-	NC_000010.11:g.86919384C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000579633	p.Arg361Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919384C>G	ClinVar
rs730881436	p.Arg361Gln	missense variant	-	NC_000010.11:g.86919385G>A	-
rs764466442	p.Arg361Gly	missense variant	-	NC_000010.11:g.86919384C>G	ExAC,TOPMed,gnomAD
RCV000461272	p.Arg361Ter	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919384C>T	ClinVar
RCV000162430	p.Arg361Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919384C>T	ClinVar
RCV000772718	p.Arg361Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919385G>A	ClinVar
RCV000530820	p.Arg361Gln	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919385G>A	ClinVar
RCV000159840	p.Arg361Gln	missense variant	-	NC_000010.11:g.86919385G>A	ClinVar
RCV000693269	p.Asp362Asn	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919387G>A	ClinVar
RCV000772196	p.Asp362Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919387G>A	ClinVar
RCV000467828	p.Lys366Asn	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919401A>C	ClinVar
rs1060503397	p.Lys366Asn	missense variant	-	NC_000010.11:g.86919401A>C	-
RCV000759475	p.Lys366Asn	missense variant	-	NC_000010.11:g.86919401A>C	ClinVar
RCV000773788	p.Lys366Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919400A>G	ClinVar
RCV000563858	p.Asn367Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919404del	ClinVar
rs1490421596	p.Lys371Thr	missense variant	-	NC_000010.11:g.86919415A>C	gnomAD
rs1315674155	p.Lys372Glu	missense variant	-	NC_000010.11:g.86919417A>G	TOPMed
NCI-TCGA novel	p.Lys372Ile	missense variant	-	NC_000010.11:g.86919418A>T	NCI-TCGA
rs1281108621	p.Asn373Ser	missense variant	-	NC_000010.11:g.86919421A>G	TOPMed
RCV000772243	p.Cys376Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919429T>A	ClinVar
RCV000493424	p.Cys376Trp	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919431C>G	ClinVar
rs1131691177	p.Cys376Trp	missense variant	-	NC_000010.11:g.86919431C>G	-
rs199476088	p.Cys376Tyr	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86919430G>A	-
rs199476088	p.Cys376Tyr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919430G>A	UniProt,dbSNP
VAR_015535	p.Cys376Tyr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919430G>A	UniProt
RCV000008718	p.Cys376Tyr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919430G>A	ClinVar
NCI-TCGA novel	p.Cys376Arg	missense variant	-	NC_000010.11:g.86919429T>C	NCI-TCGA
RCV000206145	p.Leu381Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919444C>G	ClinVar
rs864622566	p.Leu381Val	missense variant	-	NC_000010.11:g.86919444C>G	-
RCV000478590	p.Leu381Val	missense variant	-	NC_000010.11:g.86919444C>G	ClinVar
RCV000472543	p.Val385Ile	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919456G>A	ClinVar
RCV000759476	p.Val385Ile	missense variant	-	NC_000010.11:g.86919456G>A	ClinVar
rs1060503396	p.Val385Ile	missense variant	-	NC_000010.11:g.86919456G>A	TOPMed,gnomAD
RCV000563011	p.Val385Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919456G>A	ClinVar
RCV000779842	p.Val385Ile	missense variant	-	NC_000010.11:g.86919456G>A	ClinVar
RCV000696953	p.Ser389Arg	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921520T>G	ClinVar
rs879254049	p.Ser389Asn	missense variant	-	NC_000010.11:g.86919469G>A	TOPMed,gnomAD
rs879254049	p.Ser389Ile	missense variant	-	NC_000010.11:g.86919469G>T	TOPMed,gnomAD
RCV000477534	p.Ser389Asn	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919469G>A	ClinVar
RCV000236250	p.Ser389Asn	missense variant	-	NC_000010.11:g.86919469G>A	ClinVar
rs879254049	p.Ser389Ile	missense variant	-	NC_000010.11:g.86919469G>T	NCI-TCGA Cosmic
RCV000541560	p.Ser389Ile	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919469G>T	ClinVar
RCV000565079	p.Ser389Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919469G>T	ClinVar
RCV000486499	p.Asp390Asn	missense variant	-	NC_000010.11:g.86921521G>A	ClinVar
rs1064794827	p.Asp390Asn	missense variant	-	NC_000010.11:g.86921521G>A	-
RCV000556248	p.Thr391Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921524A>T	ClinVar
rs1554891310	p.Thr391Ser	missense variant	-	NC_000010.11:g.86921524A>T	-
rs1554891311	p.Asn392Ser	missense variant	-	NC_000010.11:g.86921528A>G	-
RCV000583018	p.Asn392Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921528A>G	ClinVar
RCV000522509	p.Asn392Ser	missense variant	-	NC_000010.11:g.86921528A>G	ClinVar
rs1161972977	p.Val396Met	missense variant	-	NC_000010.11:g.86921539G>A	gnomAD
rs878854662	p.Pro397Leu	missense variant	-	NC_000010.11:g.86921543C>T	-
RCV000780964	p.Pro397Arg	missense variant	-	NC_000010.11:g.86921543C>G	ClinVar
RCV000228257	p.Pro397Leu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921543C>T	ClinVar
RCV000563262	p.Asn399Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921548A>G	ClinVar
rs1554891313	p.Asn399Asp	missense variant	-	NC_000010.11:g.86921548A>G	-
rs1554891315	p.Asn399Ser	missense variant	-	NC_000010.11:g.86921549A>G	-
RCV000560017	p.Asn399Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921549A>G	ClinVar
RCV000635453	p.Thr400Asn	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921552C>A	ClinVar
rs1554891317	p.Thr400Asn	missense variant	-	NC_000010.11:g.86921552C>A	-
rs1298646773	p.Val402Gly	missense variant	-	NC_000010.11:g.86921558T>G	gnomAD
rs1462602717	p.Val402Met	missense variant	-	NC_000010.11:g.86921557G>A	gnomAD
RCV000692348	p.Lys405Arg	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921567A>G	ClinVar
RCV000409039	p.Lys405Asn	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921568A>C	ClinVar
RCV000590666	p.Lys405Asn	missense variant	-	NC_000010.11:g.86921568A>C	ClinVar
rs1064795593	p.Lys405Arg	missense variant	-	NC_000010.11:g.86921567A>G	-
rs587781522	p.Lys405Asn	missense variant	-	NC_000010.11:g.86921568A>C	ExAC,TOPMed,gnomAD
RCV000129512	p.Lys405Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921568A>C	ClinVar
RCV000483970	p.Lys405Arg	missense variant	-	NC_000010.11:g.86921567A>G	ClinVar
RCV000233959	p.Arg406Cys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921569C>T	ClinVar
RCV000129084	p.Arg406Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921569C>T	ClinVar
RCV000679546	p.Arg406His	missense variant	-	NC_000010.11:g.86921570G>A	ClinVar
RCV000635445	p.Arg406His	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921570G>A	ClinVar
RCV000656727	p.Arg406Leu	missense variant	BMPR1A Skeletal Dysplasia Syndrome	NC_000010.11:g.86921570G>T	ClinVar
RCV000519920	p.Arg406Cys	missense variant	-	NC_000010.11:g.86921569C>T	ClinVar
rs587780107	p.Arg406His	missense variant	-	NC_000010.11:g.86921570G>A	TOPMed,gnomAD
rs587780107	p.Arg406Leu	missense variant	-	NC_000010.11:g.86921570G>T	TOPMed,gnomAD
rs587781332	p.Arg406Cys	missense variant	-	NC_000010.11:g.86921569C>T	ExAC,gnomAD
RCV000561496	p.Arg406His	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921570G>A	ClinVar
rs1554891322	p.Tyr407Cys	missense variant	-	NC_000010.11:g.86921573A>G	-
RCV000779843	p.Tyr407Ter	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921574C>G	ClinVar
RCV000568210	p.Tyr407Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921573A>G	ClinVar
rs1554891324	p.Ala409Thr	missense variant	-	NC_000010.11:g.86921578G>A	-
RCV000635421	p.Ala409Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921578G>A	ClinVar
rs786202611	p.Glu411Lys	missense variant	-	NC_000010.11:g.86921584G>A	-
rs786202611	p.Glu411Lys	missense variant	-	NC_000010.11:g.86921584G>A	NCI-TCGA
RCV000165505	p.Glu411Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921584G>A	ClinVar
RCV000463942	p.Glu411Lys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921584G>A	ClinVar
rs576247658	p.Val412Ala	missense variant	-	NC_000010.11:g.86921588T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000589484	p.Val412Ala	missense variant	-	NC_000010.11:g.86921588T>C	ClinVar
rs1409093791	p.Asp414Gly	missense variant	-	NC_000010.11:g.86921594A>G	TOPMed
rs767296986	p.Asp414Glu	missense variant	-	NC_000010.11:g.86921595C>G	gnomAD
RCV000635451	p.Asp414Asn	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921593G>A	ClinVar
rs1554891329	p.Asp414Asn	missense variant	-	NC_000010.11:g.86921593G>A	-
RCV000580614	p.Asp414Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921595C>G	ClinVar
RCV000805463	p.Asp414Glu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921595C>G	ClinVar
rs140592056	p.Glu415Lys	missense variant	-	NC_000010.11:g.86921596G>A	NCI-TCGA
rs140592056	p.Glu415Lys	missense variant	-	NC_000010.11:g.86921596G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs786204235	p.Glu415Asp	missense variant	-	NC_000010.11:g.86921598A>C	gnomAD
RCV000168387	p.Glu415Asp	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921598A>C	ClinVar
RCV000587976	p.Glu415Asp	missense variant	-	NC_000010.11:g.86921598A>C	ClinVar
RCV000484302	p.Glu415Ter	frameshift	-	NC_000010.11:g.86921596_86921597delinsTTTC	ClinVar
RCV000573444	p.Glu415Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921598A>C	ClinVar
RCV000120252	p.Glu415Lys	missense variant	-	NC_000010.11:g.86921596G>A	ClinVar
RCV000457437	p.Ser416Asn	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921600G>A	ClinVar
rs1060503395	p.Ser416Asn	missense variant	-	NC_000010.11:g.86921600G>A	-
RCV000571812	p.Ser416Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921598_86921599dup	ClinVar
RCV000685715	p.Leu417Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921602C>G	ClinVar
rs876660798	p.Asn420Lys	missense variant	-	NC_000010.11:g.86921613C>A	TOPMed
rs1478085865	p.Asn420Ser	missense variant	-	NC_000010.11:g.86921612A>G	TOPMed
rs876660798	p.Asn420Lys	missense variant	-	NC_000010.11:g.86921613C>G	TOPMed
RCV000218661	p.Asn420Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921613C>A	ClinVar
RCV000635410	p.His421Tyr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921614C>T	ClinVar
rs1554891338	p.His421Tyr	missense variant	-	NC_000010.11:g.86921614C>T	-
NCI-TCGA novel	p.Phe422Val	missense variant	-	NC_000010.11:g.86921617T>G	NCI-TCGA
rs1198334501	p.Gln423His	missense variant	-	NC_000010.11:g.86921622G>T	gnomAD
RCV000580537	p.Pro424Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921623C>T	ClinVar
RCV000819098	p.Pro424Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921623C>T	ClinVar
rs201362537	p.Pro424Ser	missense variant	-	NC_000010.11:g.86921623C>T	1000Genomes,ExAC,gnomAD
rs758599378	p.Tyr425Phe	missense variant	-	NC_000010.11:g.86921627A>T	ExAC,TOPMed,gnomAD
RCV000195582	p.Tyr425Phe	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921627A>T	ClinVar
RCV000222403	p.Tyr425Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921627A>T	ClinVar
rs780148965	p.Ile426Val	missense variant	-	NC_000010.11:g.86921629A>G	ExAC,gnomAD
rs780148965	p.Ile426Val	missense variant	-	NC_000010.11:g.86921629A>G	NCI-TCGA
rs780148965	p.Ile426Leu	missense variant	-	NC_000010.11:g.86921629A>C	ExAC,gnomAD
RCV000198104	p.Ile426Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921629A>G	ClinVar
RCV000459702	p.Ile426Leu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921629A>C	ClinVar
RCV000564181	p.Ile426Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921629A>C	ClinVar
rs747090661	p.Met427Val	missense variant	-	NC_000010.11:g.86921632A>G	ExAC,gnomAD
rs769212314	p.Met427Ile	missense variant	-	NC_000010.11:g.86921634G>A	ExAC,gnomAD
rs1554891343	p.Tyr431Cys	missense variant	-	NC_000010.11:g.86921645A>G	-
RCV000569279	p.Tyr431Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921645A>G	ClinVar
RCV000115827	p.Gly434Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921653G>A	ClinVar
RCV000476402	p.Gly434Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921653G>A	ClinVar
rs587780108	p.Gly434Ser	missense variant	-	NC_000010.11:g.86921653G>A	TOPMed,gnomAD
RCV000212149	p.Gly434Ser	missense variant	-	NC_000010.11:g.86921653G>A	ClinVar
rs863224718	p.Ile436Val	missense variant	-	NC_000010.11:g.86921659A>G	-
RCV000199311	p.Ile436Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921659A>G	ClinVar
rs770073861	p.Ile437Val	missense variant	-	NC_000010.11:g.86921662A>G	ExAC,gnomAD
RCV000690555	p.Trp438Ter	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921667G>A	ClinVar
NCI-TCGA novel	p.Glu439Ter	stop gained	-	NC_000010.11:g.86921668G>T	NCI-TCGA
rs1327393432	p.Met440Val	missense variant	-	NC_000010.11:g.86921671A>G	TOPMed
rs1554891352	p.Met440Ile	missense variant	-	NC_000010.11:g.86921673G>A	-
RCV000797683	p.Met440Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921671A>G	ClinVar
RCV000566385	p.Met440Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921671A>G	ClinVar
RCV000635466	p.Met440Ile	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921673G>A	ClinVar
rs762731644	p.Ala441Ser	missense variant	-	NC_000010.11:g.86921674G>T	ExAC,gnomAD
RCV000704945	p.Ala441Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921675C>T	ClinVar
RCV000459415	p.Arg442Cys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921677C>T	ClinVar
RCV000131624	p.Arg442Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921677C>T	ClinVar
rs587782496	p.Arg442Cys	missense variant	-	NC_000010.11:g.86921677C>T	TOPMed,gnomAD
rs1554891354	p.Arg442His	missense variant	-	NC_000010.11:g.86921678G>A	-
RCV000635444	p.Arg442His	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921678G>A	ClinVar
RCV000123222	p.Arg443Cys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921680C>T	ClinVar
RCV000216122	p.Arg443His	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921681G>A	ClinVar
rs35619497	p.Arg443Cys	missense variant	-	NC_000010.11:g.86921680C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35619497	p.Arg443Cys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921680C>T	UniProt,dbSNP
VAR_022831	p.Arg443Cys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921680C>T	UniProt
rs876659155	p.Arg443His	missense variant	-	NC_000010.11:g.86921681G>A	-
RCV000130683	p.Arg443Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921680C>T	ClinVar
rs774061725	p.Cys444Arg	missense variant	-	NC_000010.11:g.86921683T>C	ExAC,gnomAD
RCV000507271	p.Cys444Arg	missense variant	-	NC_000010.11:g.86921683T>C	ClinVar
rs587781503	p.Ile445Val	missense variant	-	NC_000010.11:g.86921686A>G	ExAC,TOPMed,gnomAD
RCV000557878	p.Ile445Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921686A>G	ClinVar
RCV000779844	p.Ile445Val	missense variant	-	NC_000010.11:g.86921686A>G	ClinVar
RCV000129478	p.Ile445Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921686A>G	ClinVar
RCV000484454	p.Ile445Val	missense variant	-	NC_000010.11:g.86921686A>G	ClinVar
rs1475630647	p.Gly448Glu	missense variant	-	NC_000010.11:g.86923376G>A	TOPMed
rs587781884	p.Ile449Thr	missense variant	-	NC_000010.11:g.86923379T>C	-
RCV000130214	p.Ile449Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923379T>C	ClinVar
RCV000698507	p.Ile449Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923379T>C	ClinVar
RCV000551563	p.Val450Leu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923381G>C	ClinVar
RCV000130813	p.Val450Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923381G>A	ClinVar
rs55932635	p.Val450Met	missense variant	-	NC_000010.11:g.86923381G>A	ESP,ExAC,TOPMed,gnomAD
rs55932635	p.Val450Leu	missense variant	-	NC_000010.11:g.86923381G>C	ESP,ExAC,TOPMed,gnomAD
rs55932635	p.Val450Met	missense variant	-	NC_000010.11:g.86923381G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000569373	p.Gln454Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923393C>T	ClinVar
RCV000801917	p.Gln454Ter	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923393C>T	ClinVar
rs1554891570	p.Gln454Ter	stop gained	-	NC_000010.11:g.86923393C>T	-
rs1554891572	p.Leu455Ser	missense variant	-	NC_000010.11:g.86923397T>C	-
RCV000635468	p.Leu455Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923397T>C	ClinVar
rs753694209	p.Leu455Phe	missense variant	-	NC_000010.11:g.86923398G>T	ExAC,TOPMed,gnomAD
RCV000540010	p.Leu455Phe	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923398G>T	ClinVar
RCV000701773	p.Tyr458Ter	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923407C>A	ClinVar
RCV000779841	p.Asn459Ser	missense variant	-	NC_000010.11:g.86923409A>G	ClinVar
RCV000580906	p.Met460Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923413G>C	ClinVar
rs1206243685	p.Met460Ile	missense variant	-	NC_000010.11:g.86923413G>C	TOPMed
rs761612520	p.Met460Val	missense variant	-	NC_000010.11:g.86923411A>G	ExAC,gnomAD
RCV000550225	p.Met460Ile	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923413G>C	ClinVar
rs758309022	p.Met460Thr	missense variant	-	NC_000010.11:g.86923412T>C	UniProt,dbSNP
VAR_077353	p.Met460Thr	missense variant	-	NC_000010.11:g.86923412T>C	UniProt
rs758309022	p.Met460Thr	missense variant	-	NC_000010.11:g.86923412T>C	ExAC,TOPMed,gnomAD
RCV000796815	p.Met460Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923412T>C	ClinVar
RCV000164562	p.Met460Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923412T>C	ClinVar
RCV000763677	p.Met460Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923412T>C	ClinVar
RCV000482353	p.Met460Thr	missense variant	-	NC_000010.11:g.86923412T>C	ClinVar
rs1160800840	p.Val461Leu	missense variant	-	NC_000010.11:g.86923414G>T	gnomAD
NCI-TCGA novel	p.Val461Ile	missense variant	-	NC_000010.11:g.86923414G>A	NCI-TCGA
rs1418504897	p.Pro462Leu	missense variant	-	NC_000010.11:g.86923418C>T	TOPMed,gnomAD
rs1358264691	p.Pro462Ser	missense variant	-	NC_000010.11:g.86923417C>T	gnomAD
RCV000635440	p.Pro462Leu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923418C>T	ClinVar
rs1367928891	p.Asp464Val	missense variant	-	NC_000010.11:g.86923424A>T	gnomAD
rs149787558	p.Tyr467Ter	stop gained	-	NC_000010.11:g.86923434C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000574255	p.Tyr467Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923434C>A	ClinVar
RCV000519728	p.Glu468Gln	missense variant	-	NC_000010.11:g.86923435G>C	ClinVar
rs199907158	p.Glu468Lys	missense variant	-	NC_000010.11:g.86923435G>A	NCI-TCGA
rs199907158	p.Glu468Lys	missense variant	-	NC_000010.11:g.86923435G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs199907158	p.Glu468Gln	missense variant	-	NC_000010.11:g.86923435G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000635476	p.Glu468Lys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923435G>A	ClinVar
RCV000479202	p.Asp469Asn	missense variant	-	NC_000010.11:g.86923438G>A	ClinVar
rs1064794161	p.Asp469Asn	missense variant	-	NC_000010.11:g.86923438G>A	-
NCI-TCGA novel	p.Asp469His	missense variant	-	NC_000010.11:g.86923438G>C	NCI-TCGA
NCI-TCGA novel	p.Asp469Glu	missense variant	-	NC_000010.11:g.86923440T>A	NCI-TCGA
rs199476089	p.Met470Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923442T>C	UniProt,dbSNP
VAR_022832	p.Met470Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923442T>C	UniProt
rs199476089	p.Met470Thr	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86923442T>C	-
RCV000569040	p.Met470Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923442T>C	ClinVar
rs749743579	p.Met470Ile	missense variant	-	NC_000010.11:g.86923443G>A	ExAC,gnomAD
RCV000576105	p.Met470Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923443G>A	ClinVar
rs771452619	p.Arg471Cys	missense variant	-	NC_000010.11:g.86923444C>T	ExAC,TOPMed,gnomAD
RCV000581065	p.Arg471Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923444C>T	ClinVar
rs779371501	p.Arg471His	missense variant	-	NC_000010.11:g.86923445G>A	ExAC,gnomAD
rs771452619	p.Arg471Cys	missense variant	-	NC_000010.11:g.86923444C>T	NCI-TCGA
RCV000580005	p.Arg471His	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923445G>A	ClinVar
RCV000703304	p.Arg471His	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923445G>A	ClinVar
RCV000688695	p.Arg471Cys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923444C>T	ClinVar
RCV000757031	p.Arg471Cys	missense variant	-	NC_000010.11:g.86923444C>T	ClinVar
rs1410256559	p.Glu472Asp	missense variant	-	NC_000010.11:g.86923449G>C	TOPMed
rs587782836	p.Glu472Lys	missense variant	-	NC_000010.11:g.86923447G>A	-
RCV000573530	p.Glu472Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923449G>C	ClinVar
RCV000132424	p.Glu472Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923447G>A	ClinVar
RCV000690147	p.Glu472Asp	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923449G>C	ClinVar
rs567733221	p.Val474Leu	missense variant	-	NC_000010.11:g.86923453G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000481877	p.Val474Leu	missense variant	-	NC_000010.11:g.86923453G>C	ClinVar
rs567733221	p.Val474Leu	missense variant	-	NC_000010.11:g.86923453G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000467583	p.Val474Leu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923453G>C	ClinVar
RCV000129399	p.Val474Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923453G>C	ClinVar
rs767995260	p.Lys477Arg	missense variant	-	NC_000010.11:g.86923463A>G	ExAC,gnomAD
RCV000656578	p.Lys477Ile	missense variant	-	NC_000010.11:g.86923463A>T	ClinVar
rs767995260	p.Lys477Ile	missense variant	-	NC_000010.11:g.86923463A>T	ExAC,gnomAD
RCV000561021	p.Arg478Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923465C>T	ClinVar
RCV000772719	p.Arg478Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923466G>T	ClinVar
rs113849804	p.Arg478Leu	missense variant	-	NC_000010.11:g.86923466G>T	ESP,ExAC,TOPMed,gnomAD
RCV000515344	p.Arg478His	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923466G>A	ClinVar
RCV000236117	p.Arg478Cys	missense variant	-	NC_000010.11:g.86923465C>T	ClinVar
RCV000468095	p.Arg478Cys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923465C>T	ClinVar
RCV000235579	p.Arg478His	missense variant	-	NC_000010.11:g.86923466G>A	ClinVar
rs113849804	p.Arg478His	missense variant	-	NC_000010.11:g.86923466G>A	ESP,ExAC,TOPMed,gnomAD
rs372178531	p.Arg478Cys	missense variant	-	NC_000010.11:g.86923465C>T	ESP,ExAC,TOPMed,gnomAD
RCV000216078	p.Arg480Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923472G>T	ClinVar
RCV000692641	p.Arg480Leu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923472G>T	ClinVar
rs535109719	p.Arg480Gln	missense variant	-	NC_000010.11:g.86923472G>A	1000Genomes,ExAC,gnomAD
rs876658515	p.Arg480Trp	missense variant	-	NC_000010.11:g.86923471C>T	-
rs535109719	p.Arg480Leu	missense variant	-	NC_000010.11:g.86923472G>T	1000Genomes,ExAC,gnomAD
RCV000466486	p.Arg480Trp	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923471C>T	ClinVar
RCV000513335	p.Arg480Trp	missense variant	-	NC_000010.11:g.86923471C>T	ClinVar
NCI-TCGA novel	p.Arg480Pro	missense variant	-	NC_000010.11:g.86923472G>C	NCI-TCGA
RCV000776412	p.Ile482Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923477A>G	ClinVar
rs974639091	p.Ile482Val	missense variant	-	NC_000010.11:g.86923477A>G	TOPMed,gnomAD
RCV000539230	p.Ile482Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923477A>G	ClinVar
rs1163897191	p.Val483Met	missense variant	-	NC_000010.11:g.86923480G>A	gnomAD
RCV000635465	p.Ser484Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923483T>A	ClinVar
rs1554891611	p.Ser484Thr	missense variant	-	NC_000010.11:g.86923483T>A	-
RCV000774893	p.Ser484Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923483T>A	ClinVar
rs767763451	p.Arg486Trp	missense variant	-	NC_000010.11:g.86923489C>T	NCI-TCGA,NCI-TCGA Cosmic
rs767763451	p.Arg486Trp	missense variant	-	NC_000010.11:g.86923489C>T	ExAC,gnomAD
RCV000635446	p.Arg486Gln	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923490G>A	ClinVar
RCV000563574	p.Arg486Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923490G>A	ClinVar
RCV000553989	p.Arg486Trp	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923489C>T	ClinVar
rs752802257	p.Arg486Gln	missense variant	-	NC_000010.11:g.86923490G>A	UniProt,dbSNP
VAR_041400	p.Arg486Gln	missense variant	-	NC_000010.11:g.86923490G>A	UniProt
rs752802257	p.Arg486Gln	missense variant	-	NC_000010.11:g.86923490G>A	ExAC,TOPMed,gnomAD
RCV000568540	p.Arg486Trp	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923489C>T	ClinVar
RCV000493497	p.Trp487Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923493G>A	ClinVar
rs1131691175	p.Trp487Ter	stop gained	-	NC_000010.11:g.86923493G>A	-
RCV000579939	p.Asn488Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923495A>G	ClinVar
rs1554891616	p.Asn488Asp	missense variant	-	NC_000010.11:g.86923495A>G	-
RCV000777189	p.Ser489Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923499G>C	ClinVar
RCV000532258	p.Ser489Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923499G>C	ClinVar
rs1554891617	p.Ser489Thr	missense variant	-	NC_000010.11:g.86923499G>C	-
rs756222157	p.Asp490Gly	missense variant	-	NC_000010.11:g.86923502A>G	ExAC,gnomAD
RCV000565108	p.Asp490Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923502A>G	ClinVar
rs1329735599	p.Glu491Lys	missense variant	-	NC_000010.11:g.86923504G>A	gnomAD
RCV000635420	p.Glu491Lys	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923504G>A	ClinVar
RCV000580662	p.Glu491Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923504G>A	ClinVar
rs764319366	p.Cys492Arg	missense variant	-	NC_000010.11:g.86923594T>C	ExAC,gnomAD
rs1256130183	p.Cys492Tyr	missense variant	-	NC_000010.11:g.86923595G>A	gnomAD
rs1256130183	p.Cys492Phe	missense variant	-	NC_000010.11:g.86923595G>T	gnomAD
RCV000575987	p.Cys492Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923595G>A	ClinVar
RCV000564886	p.Cys492Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923595G>T	ClinVar
RCV000635429	p.Arg494Gln	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923601G>A	ClinVar
rs786201040	p.Arg494Ter	stop gained	-	NC_000010.11:g.86923600C>T	gnomAD
RCV000580696	p.Arg494Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923601G>A	ClinVar
rs786201040	p.Arg494Ter	stop gained	-	NC_000010.11:g.86923600C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000483189	p.Arg494Ter	nonsense	-	NC_000010.11:g.86923600C>T	ClinVar
rs1204089728	p.Arg494Gln	missense variant	-	NC_000010.11:g.86923601G>A	gnomAD
rs876660569	p.Ala495Val	missense variant	-	NC_000010.11:g.86923604C>T	-
RCV000219381	p.Ala495Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923604C>T	ClinVar
rs753939029	p.Val496Ile	missense variant	-	NC_000010.11:g.86923606G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu499Arg	missense variant	-	NC_000010.11:g.86923616T>G	NCI-TCGA
RCV000462223	p.Met500Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923618A>G	ClinVar
RCV000561192	p.Met500Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923618A>G	ClinVar
rs376651641	p.Met500Val	missense variant	-	NC_000010.11:g.86923618A>G	ESP,ExAC,TOPMed,gnomAD
RCV000345991	p.Met500Val	missense variant	Juvenile Polyposis	NC_000010.11:g.86923618A>G	ClinVar
RCV000664164	p.Met500Val	missense variant	Pulmonary arterial hypertension associated with congenital heart disease	NC_000010.11:g.86923618A>G	ClinVar
RCV000486559	p.Met500Val	missense variant	-	NC_000010.11:g.86923618A>G	ClinVar
RCV000662601	p.Ser501Ter	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923622C>G	ClinVar
rs1554891649	p.Ser501Ter	stop gained	-	NC_000010.11:g.86923622C>G	-
RCV000685762	p.Ser501Ala	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923621T>G	ClinVar
rs1554891650	p.Cys503Ser	missense variant	-	NC_000010.11:g.86923627T>A	-
rs869312790	p.Cys503Tyr	missense variant	-	NC_000010.11:g.86923628G>A	-
RCV000635463	p.Cys503Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923627T>A	ClinVar
RCV000210184	p.Cys503Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923628G>A	ClinVar
RCV000226766	p.Trp504Ter	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923631G>A	ClinVar
rs878854664	p.Trp504Ter	stop gained	-	NC_000010.11:g.86923631G>A	-
RCV000494677	p.Trp504Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923631G>A	ClinVar
rs878854664	p.Trp504Ter	stop gained	-	NC_000010.11:g.86923631G>A	NCI-TCGA
RCV000579448	p.Ala505Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923633G>A	ClinVar
RCV000470753	p.Ala505Thr	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923633G>A	ClinVar
rs369966011	p.Ala505Thr	missense variant	-	NC_000010.11:g.86923633G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750840234	p.Asn507Ser	missense variant	-	NC_000010.11:g.86923640A>G	ExAC,TOPMed,gnomAD
RCV000229682	p.Asn507Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923640A>G	ClinVar
RCV000563202	p.Asn507Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923640A>G	ClinVar
RCV000761117	p.Asn507Ser	missense variant	B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)	NC_000010.11:g.86923640A>G	ClinVar
RCV000704024	p.Ala509Ser	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923645G>T	ClinVar
RCV000481601	p.Arg511Thr	missense variant	-	NC_000010.11:g.86923652G>C	ClinVar
rs730881437	p.Arg511Ser	missense variant	-	NC_000010.11:g.86923653A>C	-
rs1064793783	p.Arg511Thr	missense variant	-	NC_000010.11:g.86923652G>C	-
RCV000159841	p.Arg511Ser	missense variant	-	NC_000010.11:g.86923653A>C	ClinVar
RCV000777155	p.Leu512Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923655T>C	ClinVar
rs1554891661	p.Leu512Phe	missense variant	-	NC_000010.11:g.86923654C>T	-
RCV000635487	p.Leu512Phe	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923654C>T	ClinVar
RCV000570983	p.Thr513Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923658C>G	ClinVar
rs1201398448	p.Thr513Arg	missense variant	-	NC_000010.11:g.86923658C>G	TOPMed
NCI-TCGA novel	p.Thr513SerPheSerTerUnk	frameshift	-	NC_000010.11:g.86923656_86923657CA>-	NCI-TCGA
NCI-TCGA novel	p.Arg516Ile	missense variant	-	NC_000010.11:g.86923667G>T	NCI-TCGA
RCV000562011	p.Ile517Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923670T>G	ClinVar
rs1554891667	p.Ile517Ser	missense variant	-	NC_000010.11:g.86923670T>G	-
rs754607465	p.Ile517Val	missense variant	-	NC_000010.11:g.86923669A>G	ExAC,gnomAD
RCV000635411	p.Ile517Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923669A>G	ClinVar
RCV000220935	p.Ile517Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923669A>G	ClinVar
rs1554891668	p.Lys518Asn	missense variant	-	NC_000010.11:g.86923674G>C	-
RCV000538426	p.Lys518Asn	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923674G>C	ClinVar
rs1179044384	p.Thr520Met	missense variant	-	NC_000010.11:g.86923679C>T	TOPMed,gnomAD
RCV000701922	p.Thr520Met	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923679C>T	ClinVar
RCV000567697	p.Leu521Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923679_86923680insTT	ClinVar
rs1131691169	p.Leu521Pro	missense variant	-	NC_000010.11:g.86923682T>C	-
RCV000494307	p.Leu521Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923682T>C	ClinVar
COSM1349424	p.Leu521Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86923681C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala522Val	missense variant	-	NC_000010.11:g.86923685C>T	NCI-TCGA
rs878854665	p.Lys523Arg	missense variant	-	NC_000010.11:g.86923688A>G	gnomAD
RCV000232462	p.Lys523Arg	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923688A>G	ClinVar
rs1064793404	p.Met524Ile	missense variant	-	NC_000010.11:g.86923692G>T	TOPMed
rs747640982	p.Met524Leu	missense variant	-	NC_000010.11:g.86923690A>C	ExAC,gnomAD
RCV000479352	p.Met524Ile	missense variant	-	NC_000010.11:g.86923692G>T	ClinVar
RCV000817674	p.Met524Val	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923690A>G	ClinVar
RCV000773711	p.Met524Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923690A>G	ClinVar
RCV000777247	p.Val525Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923693G>A	ClinVar
rs1054284858	p.Val525Gly	missense variant	-	NC_000010.11:g.86923694T>G	TOPMed
rs769233029	p.Val525Ile	missense variant	-	NC_000010.11:g.86923693G>A	ExAC,gnomAD
RCV000471649	p.Val525Ile	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923693G>A	ClinVar
RCV000236238	p.Val525Ile	missense variant	-	NC_000010.11:g.86923693G>A	ClinVar
RCV000776891	p.Gln528His	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923704A>C	ClinVar
rs1554891680	p.Gln528His	missense variant	-	NC_000010.11:g.86923704A>C	-
rs1554891677	p.Gln528Ter	stop gained	-	NC_000010.11:g.86923702C>T	-
rs1554891677	p.Gln528Ter	stop gained	-	NC_000010.11:g.86923702C>T	NCI-TCGA Cosmic
RCV000531496	p.Gln528His	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923704A>C	ClinVar
RCV000563445	p.Gln528Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923702C>T	ClinVar
rs864622175	p.Asp529Glu	missense variant	-	NC_000010.11:g.86923707T>A	TOPMed
rs1276173920	p.Asp529Val	missense variant	-	NC_000010.11:g.86923706A>T	gnomAD
RCV000572604	p.Asp529Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923707T>A	ClinVar
RCV000205016	p.Asp529Glu	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923707T>A	ClinVar
RCV000129250	p.Ile532Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923716C>G	ClinVar
rs201345248	p.Ile532Met	missense variant	-	NC_000010.11:g.86923716C>G	ExAC,gnomAD
RCV000034702	p.Ile532Met	missense variant	-	NC_000010.11:g.86923716C>G	ClinVar
RCV000470094	p.Ile532Met	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923716C>G	ClinVar
rs878854667	p.Gln91Ter	stop gained	-	NC_000010.11:g.86892167C>T	-
rs878854667	p.Gln91Lys	missense variant	-	NC_000010.11:g.86892167C>A	-
rs587782494	p.Arg119Cys	missense variant	-	NC_000010.11:g.86899815C>T	-
rs199476087	p.Cys124Arg	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86899830T>C	-
rs1131691181	p.Tyr407Ter	stop gained	-	NC_000010.11:g.86921574C>G	-
rs199476084	p.Gln239Lys	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86917173C>A	-
rs199476084	p.Gln239Ter	stop gained	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86917173C>T	-

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000737	Abdominal Pain	phenotype	HPO
C0002871	Anemia	disease	HPO
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006826	Malignant Neoplasms	group	CGI
C0007102	Malignant tumor of colon	disease	BEFREE;HPO
C0007113	Rectal Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0009375	Colonic Neoplasms	group	LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE
C0013481	Ebstein Anomaly	disease	MGD
C0015393	Eye Abnormalities	group	CTD_human
C0017185	Gastrointestinal Neoplasms	group	GENOMICS_ENGLAND
C0017638	Glioma	disease	BEFREE
C0018553	Hamartoma Syndrome, Multiple	disease	BEFREE;LHGDN
C0018801	Heart failure	disease	BEFREE
C0018802	Congestive heart failure	disease	BEFREE
C0020492	Hyperostosis	disease	BEFREE
C0020538	Hypertensive disease	group	BEFREE
C0020621	Hypokalemia	phenotype	HPO
C0022408	Arthropathy	group	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027672	Neoplastic Syndromes, Hereditary	group	CLINVAR
C0027708	Nephroblastoma	disease	BEFREE
C0028754	Obesity	disease	BEFREE
C0029408	Degenerative polyarthritis	disease	BEFREE
C0029422	Osteochondrodysplasias	group	BEFREE
C0032460	Polycystic Ovary Syndrome	disease	BEFREE
C0032580	Adenomatous Polyposis Coli	disease	BEFREE
C0032584	polyps	phenotype	BEFREE
C0042133	Uterine Fibroids	group	BEFREE
C0043202	Wolff-Parkinson-White Syndrome	disease	MGD
C0157946	Osteoarthrosis, localized, not specified whether primary or secondary	disease	MGD
C0158570	Vascular anomaly	phenotype	BEFREE
C0162119	Hemoglobin low	phenotype	HPO
C0220620	Gastrointestinal Carcinoid Tumor	disease	BEFREE
C0221273	Juvenile polyp	disease	BEFREE
C0231246	Failure to gain weight	phenotype	HPO
C0232487	Abdominal discomfort	phenotype	HPO
C0236048	Polyposis, Gastric	disease	BEFREE;HPO
C0238463	Papillary thyroid carcinoma	disease	BEFREE
C0239981	Hypoalbuminemia	disease	HPO
C0265326	Bannayan-Riley-Ruvalcaba Syndrome	disease	BEFREE
C0266617	Congenital anomaly of face	group	BEFREE
C0278701	Gastric Adenocarcinoma	disease	UNIPROT
C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	disease	UNIPROT
C0334108	Multiple polyps	disease	BEFREE
C0345893	Juvenile polyposis syndrome	disease	BEFREE;CLINGEN;CLINVAR;CTD_human;MGD;ORPHANET;UNIPROT
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0392470	Anomalous atrioventricular excitation	disease	MGD
C0409952	Idiopathic osteoarthritis	disease	BEFREE
C0410528	Skeletal dysplasia	disease	BEFREE
C0497406	Overweight	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0687713	Gastrointestinal pain	phenotype	HPO
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0750929	Arnold-Chiari Malformation, Type I	disease	BEFREE
C0860864	Decreased albumin	phenotype	HPO
C1257915	Intestinal Polyposis	disease	BEFREE
C1384584	Generalized osteoarthritis	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE;GENOMICS_ENGLAND
C1720887	Female Urogenital Diseases	group	CTD_human
C1832587	POLYPOSIS SYNDROME, HEREDITARY MIXED, 1	disease	ORPHANET
C1832940	JUVENILE POLYPOSIS OF STOMACH	disease	CLINGEN;CTD_human;MGD;ORPHANET;UNIPROT
C1862151	BRACHYDACTYLY, TYPE A1 (disorder)	disease	BEFREE
C1864730	Polyposis Syndrome, Hereditary Mixed, 2	disease	CTD_human
C1868071	Adenomatous colonic polyposis	phenotype	HPO
C1868081	Juvenile Polyposis Coli	disease	CLINGEN;CTD_human;MGD;ORPHANET;UNIPROT
C1956346	Coronary Artery Disease	disease	BEFREE
C1959582	PTEN Hamartoma Tumor Syndrome	disease	BEFREE
C1961121	Congenital vascular anomaly	group	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2315100	Pediatric failure to thrive	disease	HPO
C2677102	Chromosome 10q23 Deletion Syndrome	disease	MGD
C2677290	COLORECTAL CANCER, SUSCEPTIBILITY TO, 4	phenotype	ORPHANET
C2677291	COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 15	phenotype	ORPHANET
C3203102	Idiopathic pulmonary arterial hypertension	disease	BEFREE
C3714239	Bmpr1a-Related Juvenile Polyposis	disease	CTD_human
C3714240	Smad4-Related Juvenile Polyposis	disease	CTD_human
C3896578	Familial Colorectal Cancer Type X	disease	ORPHANET
C4023006	Juvenile colonic polyposis	disease	HPO
C4023010	Hyperplastic colonic polyposis	disease	HPO
C4531021	Undergrowth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0004674	protein serine/threonine kinase activity	IDA
GO:0004674	protein serine/threonine kinase activity	IBA
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	TAS
GO:0005025	transforming growth factor beta receptor activity, type I	IBA
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IDA
GO:0042803	protein homodimerization activity	IDA
GO:0046332	SMAD binding	IDA
GO:0046332	SMAD binding	IBA
GO:0046872	metal ion binding	IEA
GO:0098821	BMP receptor activity	ISS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001701	in utero embryonic development	IEA
GO:0001707	mesoderm formation	IEA
GO:0001756	somitogenesis	IEA
GO:0001880	Mullerian duct regression	IEA
GO:0002053	positive regulation of mesenchymal cell proliferation	IEA
GO:0002062	chondrocyte differentiation	IEA
GO:0003148	outflow tract septum morphogenesis	ISS
GO:0003151	outflow tract morphogenesis	ISS
GO:0003161	cardiac conduction system development	ISS
GO:0003183	mitral valve morphogenesis	ISS
GO:0003186	tricuspid valve morphogenesis	ISS
GO:0003203	endocardial cushion morphogenesis	ISS
GO:0003215	cardiac right ventricle morphogenesis	ISS
GO:0003222	ventricular trabecula myocardium morphogenesis	ISS
GO:0003223	ventricular compact myocardium morphogenesis	ISS
GO:0003272	endocardial cushion formation	ISS
GO:0006468	protein phosphorylation	IDA
GO:0006468	protein phosphorylation	IBA
GO:0006955	immune response	IMP
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS
GO:0007398	ectoderm development	IEA
GO:0009950	dorsal/ventral axis specification	IEA
GO:0009953	dorsal/ventral pattern formation	IBA
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA
GO:0014032	neural crest cell development	IEA
GO:0014912	negative regulation of smooth muscle cell migration	IMP
GO:0019827	stem cell population maintenance	IEA
GO:0021983	pituitary gland development	IEA
GO:0021998	neural plate mediolateral regionalization	IEA
GO:0030324	lung development	IEA
GO:0030501	positive regulation of bone mineralization	IMP
GO:0030509	BMP signaling pathway	IDA
GO:0030509	BMP signaling pathway	IBA
GO:0030509	BMP signaling pathway	IC
GO:0030509	BMP signaling pathway	TAS
GO:0035137	hindlimb morphogenesis	IEA
GO:0035912	dorsal aorta morphogenesis	ISS
GO:0042475	odontogenesis of dentin-containing tooth	IEA
GO:0042733	embryonic digit morphogenesis	IEA
GO:0045669	positive regulation of osteoblast differentiation	IMP
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP
GO:0048352	paraxial mesoderm structural organization	IEA
GO:0048368	lateral mesoderm development	IEA
GO:0048378	regulation of lateral mesodermal cell fate specification	IEA
GO:0048382	mesendoderm development	IEA
GO:0048568	embryonic organ development	IEA
GO:0048589	developmental growth	IEA
GO:0050679	positive regulation of epithelial cell proliferation	IEA
GO:0050768	negative regulation of neurogenesis	IEA
GO:0060021	roof of mouth development	IEA
GO:0060043	regulation of cardiac muscle cell proliferation	ISS
GO:0060045	positive regulation of cardiac muscle cell proliferation	ISS
GO:0060391	positive regulation of SMAD protein signal transduction	IDA
GO:0060914	heart formation	IEA
GO:0061312	BMP signaling pathway involved in heart development	IC
GO:0061626	pharyngeal arch artery morphogenesis	ISS
GO:0071363	cellular response to growth factor stimulus	IBA
GO:0071773	cellular response to BMP stimulus	IMP
GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	IEA
GO:1904414	positive regulation of cardiac ventricle development	ISS
GO:1904707	positive regulation of vascular smooth muscle cell proliferation	IMP
GO:1905285	fibrous ring of heart morphogenesis	ISS
GO:2000772	regulation of cellular senescence	IEA
GO:0010665	regulation of cardiac muscle cell apoptotic process	ISS
GO:1905292	regulation of neural crest cell differentiation	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	IBA
GO:0005886	plasma membrane	TAS
GO:0009897	external side of plasma membrane	IDA
GO:0016021	integral component of membrane	IEA
GO:0030425	dendrite	IEA
GO:0043025	neuronal cell body	IEA
GO:0043235	receptor complex	IBA
GO:1990712	HFE-transferrin receptor complex	IC
GO:0005901	caveola	IMP

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-201451	Signaling by BMP	TAS
R-HSA-9006936	Signaling by TGF-beta family members	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of BMPR1A mRNA	28628672
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of BMPR1A mRNA	19114083
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of BMPR1A mRNA	18648102
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide affects the expression of BMPR1A mRNA	20382639
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 BMPR1A mRNA	19150397
C496492	abrine	abrine results in decreased expression of BMPR1A mRNA	31054353
D020106	Acrylamide	Acrylamide results in increased expression of BMPR1A mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of BMPR1A 3' UTR	30157460
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of BMPR1A mRNA	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of BMPR1A mRNA	24449571
D001058	Apomorphine	Apomorphine results in decreased expression of BMPR1A mRNA	25633564
D001151	Arsenic	Arsenic affects the expression of BMPR1A protein	24675094
D001151	Arsenic	Arsenic affects the methylation of BMPR1A gene	25304211
D001205	Ascorbic Acid	[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of BMPR1A protein	27387537
D001205	Ascorbic Acid	Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of BMPR1A protein]	27387537
D001205	Ascorbic Acid	ginsenoside Rg3 inhibits the reaction [Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of BMPR1A protein]]	27387537
D001205	Ascorbic Acid	NOG protein inhibits the reaction [ginsenoside Rg3 inhibits the reaction [Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of BMPR1A protein]]]	27387537
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of BMPR1A 3' UTR	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of BMPR1A mRNA	22228805
C026487	benzo(e)pyrene	benzo(e)pyrene results in decreased methylation of BMPR1A 3' UTR	30157460
C031463	beta-glycerophosphoric acid	[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of BMPR1A protein	27387537
C031463	beta-glycerophosphoric acid	Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of BMPR1A protein]	27387537
C031463	beta-glycerophosphoric acid	ginsenoside Rg3 inhibits the reaction [Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of BMPR1A protein]]	27387537
C031463	beta-glycerophosphoric acid	NOG protein inhibits the reaction [ginsenoside Rg3 inhibits the reaction [Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of BMPR1A protein]]]	27387537
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of BMPR1A mRNA	28628672
C006780	bisphenol A	bisphenol A results in increased expression of BMPR1A mRNA	25181051; 29097150; 30816183;
D002101	Cacodylic Acid	Cacodylic Acid results in increased expression of BMPR1A mRNA	17720352
C028031	cadmium acetate	cadmium acetate results in decreased expression of BMPR1A mRNA	18155341
D019256	Cadmium Chloride	Cadmium Chloride results in increased methylation of BMPR1A promoter	22457795
D002737	Chloroprene	Chloroprene results in increased expression of BMPR1A mRNA	23125180
D002762	Cholecalciferol	Cholecalciferol results in increased expression of BMPR1A mRNA	17170073
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of BMPR1A mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in decreased expression of BMPR1A mRNA	25562108
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of BMPR1A mRNA	28628672
D003907	Dexamethasone	Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of BMPR1A protein]	27387537
D003907	Dexamethasone	Dexamethasone results in decreased expression of BMPR1A mRNA	27387537
D003907	Dexamethasone	Dexamethasone results in decreased expression of BMPR1A protein	27387537
D003907	Dexamethasone	ginsenoside Rg3 inhibits the reaction [Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of BMPR1A protein]]	27387537
D003907	Dexamethasone	ginsenoside Rg3 inhibits the reaction [Dexamethasone results in decreased expression of BMPR1A mRNA]	27387537
D003907	Dexamethasone	ginsenoside Rg3 inhibits the reaction [Dexamethasone results in decreased expression of BMPR1A protein]	27387537
D003907	Dexamethasone	NOG protein inhibits the reaction [ginsenoside Rg3 inhibits the reaction [Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of BMPR1A protein]]]	27387537
C000944	dicrotophos	dicrotophos results in decreased expression of BMPR1A mRNA	28302478
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of BMPR1A mRNA	29581250
C516138	dorsomorphin	dorsomorphin results in decreased expression of BMPR1A mRNA	25633564
D013759	Dronabinol	Dronabinol results in decreased expression of BMPR1A mRNA	17578508
D004391	Dust	Dust results in increased expression of BMPR1A mRNA	17805423
C070609	EMD 53998	EMD 53998 analog results in decreased expression of BMPR1A mRNA	24977338
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of BMPR1A mRNA	22079256
D000431	Ethanol	Ethanol affects the splicing of BMPR1A mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of BMPR1A mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of BMPR1A mRNA	29097150
D017313	Fenretinide	Fenretinide results in decreased expression of BMPR1A mRNA	28973697
C097367	ginsenoside Rg3	ginsenoside Rg3 inhibits the reaction [Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of BMPR1A protein]]	27387537
C097367	ginsenoside Rg3	ginsenoside Rg3 inhibits the reaction [Dexamethasone results in decreased expression of BMPR1A mRNA]	27387537
C097367	ginsenoside Rg3	ginsenoside Rg3 inhibits the reaction [Dexamethasone results in decreased expression of BMPR1A protein]	27387537
C097367	ginsenoside Rg3	NOG protein inhibits the reaction [ginsenoside Rg3 inhibits the reaction [Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of BMPR1A protein]]]	27387537
D005947	Glucose	[INS protein co-treated with Glucose] results in increased expression of BMPR1A mRNA	22634610
D006493	Heparin	Heparin results in decreased expression of BMPR1A mRNA	25633564
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of BMPR1A mRNA	28628672
D048628	Ketolides	Ketolides analog results in increased expression of BMPR1A mRNA	24967691
D007657	Ketone Bodies	Ketone Bodies results in increased expression of BMPR1A mRNA	15469884
D019344	Lactic Acid	Lactic Acid results in decreased expression of BMPR1A mRNA	30851411
D008701	Methapyrilene	Methapyrilene results in decreased methylation of BMPR1A 3' UTR	30157460
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of BMPR1A mRNA	23892564
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of BMPR1A mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in increased expression of BMPR1A mRNA	18301758
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of BMPR1A mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of BMPR1A mRNA	22079256
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of BMPR1A mRNA	23608068
D011748	Pyrogallol	Pyrogallol results in increased expression of BMPR1A mRNA	20362636
D011794	Quercetin	Quercetin results in decreased expression of BMPR1A mRNA	21632981
C028632	rutecarpine	rutecarpine results in decreased expression of BMPR1A mRNA	25633564
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in decreased expression of BMPR1A mRNA	21427059
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of BMPR1A mRNA	31299295
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of BMPR1A mRNA	20055451
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of BMPR1A mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of BMPR1A mRNA	19770486
D013893	Thiram	Thiram results in increased expression of BMPR1A mRNA	20530235
D014212	Tretinoin	[Tretinoin co-treated with SIX3 protein] results in increased expression of BMPR1A mRNA	16341014
D014241	Trichloroethylene	Trichloroethylene results in increased methylation of BMPR1A gene	27618143
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of BMPR1A mRNA	19042947
D014635	Valproic Acid	Valproic Acid affects the expression of BMPR1A mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of BMPR1A mRNA	23179753
D014635	Valproic Acid	Valproic Acid results in decreased expression of BMPR1A mRNA	21427059
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of BMPR1A gene	25560391
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of BMPR1A mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0067	ATP-binding
KW-1003	Cell membrane
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0418	Kinase
KW-0460	Magnesium
KW-0464	Manganese
KW-0472	Membrane
KW-0479	Metal-binding
KW-0547	Nucleotide-binding
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0723	Serine/threonine-protein kinase
KW-0732	Signal
KW-0808	Transferase
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR000472	Activin_recp
IPR003605	GS_dom
IPR011009	Kinase-like_dom_sf
IPR000719	Prot_kinase_dom
IPR017441	Protein_kinase_ATP_BS
IPR001245	Ser-Thr/Tyr_kinase_cat_dom
IPR008271	Ser/Thr_kinase_AS
IPR000333	TGFB_receptor

PROSITE

PROSITE ID	PROSITE Term
PS51256	GS
PS00107	PROTEIN_KINASE_ATP
PS50011	PROTEIN_KINASE_DOM
PS00108	PROTEIN_KINASE_ST

Pfam

Pfam ID	Pfam Term
PF01064	Activin_recp
PF07714	Pkinase_Tyr
PF08515	TGF_beta_GS

Gene: BMPR1A

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