Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.42404701T>A	CA399581988	CAVIN1	c.1159A>T (p.Ser387Cys)	gnomAD v4
17	g.42404701T>C	CA399581985	CAVIN1	c.1159A>G (p.Ser387Gly)	gnomAD v4
17	g.42404701T>G	CA399581983	CAVIN1	c.1159A>C (p.Ser387Arg)
17	g.42404702C>A	CA399581992	CAVIN1	c.1158G>T (p.Lys386Asn)	gnomAD v4
17	g.42404702C>G	CA399582001	CAVIN1	c.1158G>C (p.Lys386Asn)
17	g.42404702C>T	CA500215440	CAVIN1	c.1158G>A (p.Lys386=)	gnomAD v4
17	g.42404703T>A	CA399582011	CAVIN1	c.1157A>T (p.Lys386Met)	gnomAD v4
17	g.42404703T>C	CA399582014	CAVIN1	c.1157A>G (p.Lys386Arg)	gnomAD v4
17	g.42404703T>G	CA399582017	CAVIN1	c.1157A>C (p.Lys386Thr)
17	g.42404704del	CA2637956453	CAVIN1	c.1157del (p.Lys386ArgfsTer?)	gnomAD v4
17	g.42404704T>A	CA399582020	CAVIN1	c.1156A>T (p.Lys386Ter)	gnomAD v4
17	g.42404704T>C	CA399582021	CAVIN1	c.1156A>G (p.Lys386Glu)	gnomAD v4
17	g.42404704T>G	CA399582024	CAVIN1	c.1156A>C (p.Lys386Gln)	dbSNP gnomAD v2 gnomAD v4
17	g.42404704T=	CA2260466757	CAVIN1	c.1156A= (p.Lys386=)
17	g.42404704_42404732delinsTGTCCACCAGCACGGCGTCCGACTCCTCG	CA2260466758	CAVIN1	c.1128_1156delinsCGAGGAGTCGGACGCCGTGCTGGTGGACA (p.Thr376=)
17	g.42404705G>A	CA500215441	CAVIN1	c.1155C>T (p.Asp385=)	gnomAD v4
17	g.42404705G>C	CA399582029	CAVIN1	c.1155C>G (p.Asp385Glu)
17	g.42404705G>T	CA399582038	CAVIN1	c.1155C>A (p.Asp385Glu)	gnomAD v4
17	g.42404707_42404734del	CA772120449	CAVIN1	c.1128_1155del (p.Glu377ArgfsTer?)	dbSNP
17	g.42404706T>A	CA399582042	CAVIN1	c.1154A>T (p.Asp385Val)	gnomAD v4
17	g.42404706T>C	CA399582065	CAVIN1	c.1154A>G (p.Asp385Gly)	gnomAD v4
17	g.42404706T>G	CA399582069	CAVIN1	c.1154A>C (p.Asp385Ala)
17	g.42404707C>A	CA399582077	CAVIN1	c.1153G>T (p.Asp385Tyr)	gnomAD v4
17	g.42404707C=	CA2260466759	CAVIN1	c.1153G= (p.Asp385=)
17	g.42404707C>G	CA399582073	CAVIN1	c.1153G>C (p.Asp385His)	dbSNP gnomAD v2 gnomAD v4
17	g.42404707C>T	CA399582076	CAVIN1	c.1153G>A (p.Asp385Asn)	gnomAD v4
17	g.42404708del	CA2637956454	CAVIN1	c.1153del (p.Asp385ThrfsTer?)	gnomAD v4
17	g.42404708C>A	CA500215442	CAVIN1	c.1152G>T (p.Val384=)	gnomAD v4
17	g.42404708C=	CA2260466760	CAVIN1	c.1152G= (p.Val384=)
17	g.42404708C>G	CA500215443	CAVIN1	c.1152G>C (p.Val384=)
17	g.42404708C>T	CA290750203	CAVIN1	c.1152G>A (p.Val384=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404709A>C	CA399582082	CAVIN1	c.1151T>G (p.Val384Gly)
17	g.42404709A>G	CA399582085	CAVIN1	c.1151T>C (p.Val384Ala)	gnomAD v4
17	g.42404709A>T	CA399582087	CAVIN1	c.1151T>A (p.Val384Glu)	gnomAD v4
17	g.42404710C>A	CA399582093	CAVIN1	c.1150G>T (p.Val384Leu)	gnomAD v4
17	g.42404710C=	CA2260466761	CAVIN1	c.1150G= (p.Val384=)
17	g.42404710C>G	CA399582096	CAVIN1	c.1150G>C (p.Val384Leu)	gnomAD v4
17	g.42404710C>T	CA290750229	CAVIN1	c.1150G>A (p.Val384Met)	dbSNP gnomAD v4
17	g.42404711del	CA2637956455	CAVIN1	c.1150del (p.Val384TrpfsTer?)	gnomAD v4
17	g.42404711C>A	CA500215445	CAVIN1	c.1149G>T (p.Leu383=)	gnomAD v4
17	g.42404711C=	CA2260466762	CAVIN1	c.1149G= (p.Leu383=)
17	g.42404711C>G	CA500215444	CAVIN1	c.1149G>C (p.Leu383=)	gnomAD v4
17	g.42404711C>T	CA500215446	CAVIN1	c.1149G>A (p.Leu383=)	dbSNP gnomAD v4
17	g.42404712A>C	CA399582100	CAVIN1	c.1148T>G (p.Leu383Arg)
17	g.42404712A>G	CA399582102	CAVIN1	c.1148T>C (p.Leu383Pro)	gnomAD v4
17	g.42404712A>T	CA399582106	CAVIN1	c.1148T>A (p.Leu383Gln)	gnomAD v4
17	g.42404713G>A	CA500215447	CAVIN1	c.1147C>T (p.Leu383=)	gnomAD v4
17	g.42404713G>C	CA399582107	CAVIN1	c.1147C>G (p.Leu383Val)
17	g.42404713G=	CA2260466763	CAVIN1	c.1147C= (p.Leu383=)
17	g.42404713G>T	CA290750235	CAVIN1	c.1147C>A (p.Leu383Met)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404714C>A	CA500215448	CAVIN1	c.1146G>T (p.Val382=)	gnomAD v4
17	g.42404714C>G	CA500215450	CAVIN1	c.1146G>C (p.Val382=)
17	g.42404714C>T	CA500215449	CAVIN1	c.1146G>A (p.Val382=)	gnomAD v4
17	g.42404715A=	CA2260466764	CAVIN1	c.1145T= (p.Val382=)
17	g.42404715A>C	CA399582112	CAVIN1	c.1145T>G (p.Val382Gly)
17	g.42404715A>G	CA399582110	CAVIN1	c.1145T>C (p.Val382Ala)	gnomAD v4
17	g.42404715A>T	CA399582108	CAVIN1	c.1145T>A (p.Val382Glu)
17	g.42404716C>A	CA8575744	CAVIN1	c.1144G>T (p.Val382Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42404716C=	CA2260466765	CAVIN1	c.1144G= (p.Val382=)
17	g.42404716C>G	CA399582124	CAVIN1	c.1144G>C (p.Val382Leu)
17	g.42404716C>T	CA399582121	CAVIN1	c.1144G>A (p.Val382Met)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404719_42404733dup	CA983833721	CAVIN1	c.1130_1144dup (p.Ala381_Val382insGluGluSerAspAla)	dbSNP gnomAD v3 gnomAD v4
17	g.42404717G>A	CA290750266	CAVIN1	c.1143C>T (p.Ala381=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404717G>C	CA500215451	CAVIN1	c.1143C>G (p.Ala381=)	gnomAD v4 COSMIC
17	g.42404717G=	CA2260466766	CAVIN1	c.1143C= (p.Ala381=)
17	g.42404717G>T	CA500215452	CAVIN1	c.1143C>A (p.Ala381=)	gnomAD v4
17	g.42404718G>A	CA399582145	CAVIN1	c.1142C>T (p.Ala381Val)	dbSNP gnomAD v2 gnomAD v4
17	g.42404718G>C	CA399582148	CAVIN1	c.1142C>G (p.Ala381Gly)	dbSNP
17	g.42404718G=	CA2260466767	CAVIN1	c.1142C= (p.Ala381=)
17	g.42404718G>T	CA399582156	CAVIN1	c.1142C>A (p.Ala381Asp)	gnomAD v4
17	g.42404719C>A	CA399582163	CAVIN1	c.1141G>T (p.Ala381Ser)	gnomAD v4
17	g.42404719C=	CA2260466768	CAVIN1	c.1141G= (p.Ala381=)
17	g.42404719C>G	CA399582167	CAVIN1	c.1141G>C (p.Ala381Pro)	dbSNP gnomAD v2 gnomAD v4
17	g.42404719C>T	CA399582182	CAVIN1	c.1141G>A (p.Ala381Thr)	dbSNP gnomAD v4
17	g.42404720G>A	CA500215453	CAVIN1	c.1140C>T (p.Asp380=)	dbSNP gnomAD v4
17	g.42404720G>C	CA399582185	CAVIN1	c.1140C>G (p.Asp380Glu)	dbSNP gnomAD v2
17	g.42404720G=	CA2260466769	CAVIN1	c.1140C= (p.Asp380=)
17	g.42404720G>T	CA399582189	CAVIN1	c.1140C>A (p.Asp380Glu)	dbSNP gnomAD v3 gnomAD v4
17	g.42404721T>A	CA399582192	CAVIN1	c.1139A>T (p.Asp380Val)	dbSNP gnomAD v4
17	g.42404721T>C	CA399582197	CAVIN1	c.1139A>G (p.Asp380Gly)	gnomAD v4
17	g.42404721T>G	CA399582200	CAVIN1	c.1139A>C (p.Asp380Ala)
17	g.42404721T=	CA2260466770	CAVIN1	c.1139A= (p.Asp380=)
17	g.42404722C>A	CA399582214	CAVIN1	c.1138G>T (p.Asp380Tyr)	dbSNP gnomAD v4
17	g.42404722C=	CA2260466771	CAVIN1	c.1138G= (p.Asp380=)
17	g.42404722C>G	CA399582210	CAVIN1	c.1138G>C (p.Asp380His)	ClinVar dbSNP gnomAD v4
17	g.42404722C>T	CA399582212	CAVIN1	c.1138G>A (p.Asp380Asn)	gnomAD v4
17	g.42404722_42404723insGGT	CA2260466773	CAVIN1	c.1137_1138insACC (p.Ser379_Asp380insThr)	dbSNP
17	g.42404723C>A	CA8575745	CAVIN1	c.1137G>T (p.Ser379=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404723C=	CA2260466772	CAVIN1	c.1137G= (p.Ser379=)
17	g.42404723C>G	CA500215454	CAVIN1	c.1137G>C (p.Ser379=)	dbSNP gnomAD v4
17	g.42404723C>T	CA500215455	CAVIN1	c.1137G>A (p.Ser379=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.42404724G>A	CA399582222	CAVIN1	c.1136C>T (p.Ser379Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404724G>C	CA399582233	CAVIN1	c.1136C>G (p.Ser379Trp)
17	g.42404724G=	CA2260466774	CAVIN1	c.1136C= (p.Ser379=)
17	g.42404724G>T	CA8575746	CAVIN1	c.1136C>A (p.Ser379Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42404725A>C	CA399582240	CAVIN1	c.1135T>G (p.Ser379Ala)	gnomAD v4
17	g.42404725A>G	CA399582244	CAVIN1	c.1135T>C (p.Ser379Pro)	dbSNP
17	g.42404725A>T	CA399582246	CAVIN1	c.1135T>A (p.Ser379Thr)	gnomAD v4
17	g.42404726C>A	CA399582251	CAVIN1	c.1134G>T (p.Glu378Asp)	gnomAD v4
17	g.42404726C>G	CA399582254	CAVIN1	c.1134G>C (p.Glu378Asp)
17	g.42404726C>T	CA500215456	CAVIN1	c.1134G>A (p.Glu378=)	gnomAD v4
17	g.42404729_42404731dup	CA2594068998	CAVIN1	c.1132_1134dup (p.Glu378_Ser379insGlu)	gnomAD v3 gnomAD v4
17	g.42404727T>A	CA399582259	CAVIN1	c.1133A>T (p.Glu378Val)
17	g.42404727T>C	CA399582263	CAVIN1	c.1133A>G (p.Glu378Gly)	gnomAD v4
17	g.42404727T>G	CA399582266	CAVIN1	c.1133A>C (p.Glu378Ala)
17	g.42404728C>A	CA399582278	CAVIN1	c.1132G>T (p.Glu378Ter)	gnomAD v4
17	g.42404728C=	CA2260466775	CAVIN1	c.1132G= (p.Glu378=)
17	g.42404728C>G	CA399582275	CAVIN1	c.1132G>C (p.Glu378Gln)	dbSNP
17	g.42404728C>T	CA399582271	CAVIN1	c.1132G>A (p.Glu378Lys)	dbSNP gnomAD v2 gnomAD v4
17	g.42404729C>A	CA399582288	CAVIN1	c.1131G>T (p.Glu377Asp)	dbSNP gnomAD v4
17	g.42404729C=	CA2260466776	CAVIN1	c.1131G= (p.Glu377=)
17	g.42404729C>G	CA399582283	CAVIN1	c.1131G>C (p.Glu377Asp)	gnomAD v4
17	g.42404729C>T	CA500215457	CAVIN1	c.1131G>A (p.Glu377=)	gnomAD v4
17	g.42404730T>A	CA399582290	CAVIN1	c.1130A>T (p.Glu377Val)
17	g.42404730T>C	CA399582297	CAVIN1	c.1130A>G (p.Glu377Gly)	gnomAD v4
17	g.42404730T>G	CA399582300	CAVIN1	c.1130A>C (p.Glu377Ala)
17	g.42404731C>A	CA399582303	CAVIN1	c.1129G>T (p.Glu377Ter)	gnomAD v4
17	g.42404731C>G	CA399582306	CAVIN1	c.1129G>C (p.Glu377Gln)	gnomAD v4
17	g.42404731C>T	CA399582308	CAVIN1	c.1129G>A (p.Glu377Lys)	gnomAD v4
17	g.42404732G>A	CA8575747	CAVIN1	c.1128C>T (p.Thr376=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42404732G>C	CA500215459	CAVIN1	c.1128C>G (p.Thr376=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404732G=	CA2260466777	CAVIN1	c.1128C= (p.Thr376=)
17	g.42404732G>T	CA500215458	CAVIN1	c.1128C>A (p.Thr376=)	gnomAD v4
17	g.42404732_42404735dup	CA2637956456	CAVIN1	c.1125_1128dup (p.Glu377HisfsTer?)	gnomAD v4
17	g.42404733G>A	CA399582315	CAVIN1	c.1127C>T (p.Thr376Ile)	gnomAD v4
17	g.42404733G>C	CA399582319	CAVIN1	c.1127C>G (p.Thr376Ser)
17	g.42404733G>T	CA399582321	CAVIN1	c.1127C>A (p.Thr376Asn)	gnomAD v4
17	g.42404734T>A	CA399582323	CAVIN1	c.1126A>T (p.Thr376Ser)	gnomAD v4
17	g.42404734T>C	CA399582324	CAVIN1	c.1126A>G (p.Thr376Ala)
17	g.42404734T>G	CA399582325	CAVIN1	c.1126A>C (p.Thr376Pro)
17	g.42404736_42404765dup	CA2637956457	CAVIN1	c.1097_1126dup (p.Ile375_Thr376insSerProAspValHisAlaLeuLeuGluIle)	gnomAD v4
17	g.42404735G>A	CA500215460	CAVIN1	c.1125C>T (p.Ile375=)
17	g.42404735G>C	CA399582326	CAVIN1	c.1125C>G (p.Ile375Met)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42404735G=	CA2260466778	CAVIN1	c.1125C= (p.Ile375=)
17	g.42404735G>T	CA500215461	CAVIN1	c.1125C>A (p.Ile375=)	dbSNP gnomAD v4
17	g.42404736A>C	CA399582327	CAVIN1	c.1124T>G (p.Ile375Ser)
17	g.42404736A>G	CA399582329	CAVIN1	c.1124T>C (p.Ile375Thr)	gnomAD v4
17	g.42404736A>T	CA399582333	CAVIN1	c.1124T>A (p.Ile375Asn)
17	g.42404737T>A	CA399582336	CAVIN1	c.1123A>T (p.Ile375Phe)	dbSNP
17	g.42404737T>C	CA399582337	CAVIN1	c.1123A>G (p.Ile375Val)	gnomAD v4
17	g.42404737T>G	CA399582339	CAVIN1	c.1123A>C (p.Ile375Leu)
17	g.42404737T=	CA2260466779	CAVIN1	c.1123A= (p.Ile375=)
17	g.42404738C>A	CA399582342	CAVIN1	c.1122G>T (p.Glu374Asp)	dbSNP gnomAD v2 gnomAD v4
17	g.42404738C=	CA2260466780	CAVIN1	c.1122G= (p.Glu374=)
17	g.42404738C>G	CA399582344	CAVIN1	c.1122G>C (p.Glu374Asp)	gnomAD v4
17	g.42404738C>T	CA500215462	CAVIN1	c.1122G>A (p.Glu374=)
17	g.42404739T>A	CA399582346	CAVIN1	c.1121A>T (p.Glu374Val)	dbSNP
17	g.42404739T>C	CA399582349	CAVIN1	c.1121A>G (p.Glu374Gly)	gnomAD v4
17	g.42404739T>G	CA399582352	CAVIN1	c.1121A>C (p.Glu374Ala)
17	g.42404739T=	CA2260466781	CAVIN1	c.1121A= (p.Glu374=)
17	g.42404740C>A	CA399582354	CAVIN1	c.1120G>T (p.Glu374Ter)	gnomAD v4
17	g.42404740C>G	CA399582357	CAVIN1	c.1120G>C (p.Glu374Gln)
17	g.42404740C>T	CA399582360	CAVIN1	c.1120G>A (p.Glu374Lys)	gnomAD v4
17	g.42404741C>A	CA500215464	CAVIN1	c.1119G>T (p.Leu373=)	gnomAD v4
17	g.42404741C>G	CA500215465	CAVIN1	c.1119G>C (p.Leu373=)
17	g.42404741C>T	CA500215463	CAVIN1	c.1119G>A (p.Leu373=)	gnomAD v4
17	g.42404742A>C	CA399582366	CAVIN1	c.1118T>G (p.Leu373Arg)
17	g.42404742A>G	CA399582369	CAVIN1	c.1118T>C (p.Leu373Pro)	gnomAD v4
17	g.42404742A>T	CA399582363	CAVIN1	c.1118T>A (p.Leu373Gln)
17	g.42404743G>A	CA500215466	CAVIN1	c.1117C>T (p.Leu373=)	dbSNP gnomAD v2 gnomAD v4
17	g.42404743G>C	CA399582372	CAVIN1	c.1117C>G (p.Leu373Val)	gnomAD v4
17	g.42404743G=	CA2260466782	CAVIN1	c.1117C= (p.Leu373=)
17	g.42404743G>T	CA399582376	CAVIN1	c.1117C>A (p.Leu373Met)	gnomAD v4
17	g.42404744C>A	CA500215469	CAVIN1	c.1116G>T (p.Leu372=)	dbSNP gnomAD v4
17	g.42404744C=	CA2260466783	CAVIN1	c.1116G= (p.Leu372=)
17	g.42404744C>G	CA500215467	CAVIN1	c.1116G>C (p.Leu372=)
17	g.42404744C>T	CA500215468	CAVIN1	c.1116G>A (p.Leu372=)	dbSNP gnomAD v2 gnomAD v4
17	g.42404745A>C	CA399582379	CAVIN1	c.1115T>G (p.Leu372Arg)
17	g.42404745A>G	CA399582380	CAVIN1	c.1115T>C (p.Leu372Pro)	gnomAD v4
17	g.42404745A>T	CA399582382	CAVIN1	c.1115T>A (p.Leu372Gln)
17	g.42404746G>A	CA500215470	CAVIN1	c.1114C>T (p.Leu372=)	dbSNP gnomAD v2 gnomAD v4
17	g.42404746G>C	CA399582386	CAVIN1	c.1114C>G (p.Leu372Val)
17	g.42404746G=	CA2260466784	CAVIN1	c.1114C= (p.Leu372=)
17	g.42404746G>T	CA399582389	CAVIN1	c.1114C>A (p.Leu372Met)	gnomAD v4
17	g.42404746_42404747delinsGC	CA2260466785	CAVIN1	c.1113_1114delinsGC (p.Ala371=)
17	g.42404747del	CA2260466786	CAVIN1	c.1113del (p.Leu372CysfsTer?)	dbSNP
17	g.42404747C>A	CA500215473	CAVIN1	c.1113G>T (p.Ala371=)	gnomAD v4
17	g.42404747C>G	CA500215471	CAVIN1	c.1113G>C (p.Ala371=)
17	g.42404747C>T	CA500215472	CAVIN1	c.1113G>A (p.Ala371=)	gnomAD v4
17	g.42404748G>A	CA399582390	CAVIN1	c.1112C>T (p.Ala371Val)	gnomAD v4
17	g.42404748G>C	CA399582397	CAVIN1	c.1112C>G (p.Ala371Gly)	dbSNP gnomAD v2 gnomAD v4
17	g.42404748G=	CA2260466787	CAVIN1	c.1112C= (p.Ala371=)
17	g.42404748G>T	CA399582400	CAVIN1	c.1112C>A (p.Ala371Glu)	gnomAD v4
17	g.42404749C>A	CA399582402	CAVIN1	c.1111G>T (p.Ala371Ser)	gnomAD v4
17	g.42404749C=	CA2260466788	CAVIN1	c.1111G= (p.Ala371=)
17	g.42404749C>G	CA8575748	CAVIN1	c.1111G>C (p.Ala371Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404749C>T	CA399582406	CAVIN1	c.1111G>A (p.Ala371Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.42404750G>A	CA290750293	CAVIN1	c.1110C>T (p.His370=)	dbSNP gnomAD v4
17	g.42404750G>C	CA399582410	CAVIN1	c.1110C>G (p.His370Gln)
17	g.42404750G=	CA2260466789	CAVIN1	c.1110C= (p.His370=)
17	g.42404750G>T	CA399582413	CAVIN1	c.1110C>A (p.His370Gln)	gnomAD v4
17	g.42404751T>A	CA399582421	CAVIN1	c.1109A>T (p.His370Leu)	gnomAD v4
17	g.42404751T>C	CA399582416	CAVIN1	c.1109A>G (p.His370Arg)
17	g.42404751T>G	CA399582418	CAVIN1	c.1109A>C (p.His370Pro)
17	g.42404752G>A	CA399582424	CAVIN1	c.1108C>T (p.His370Tyr)	gnomAD v4
17	g.42404752G>C	CA399582427	CAVIN1	c.1108C>G (p.His370Asp)	gnomAD v4
17	g.42404752G>T	CA399582429	CAVIN1	c.1108C>A (p.His370Asn)	gnomAD v4
17	g.42404753C>A	CA500215476	CAVIN1	c.1107G>T (p.Val369=)	gnomAD v4
17	g.42404753C>G	CA500215474	CAVIN1	c.1107G>C (p.Val369=)	gnomAD v4
17	g.42404753C>T	CA500215475	CAVIN1	c.1107G>A (p.Val369=)	gnomAD v4
17	g.42404754A=	CA2260466790	CAVIN1	c.1106T= (p.Val369=)
17	g.42404754A>C	CA290750294	CAVIN1	c.1106T>G (p.Val369Gly)	dbSNP
17	g.42404754A>G	CA399582434	CAVIN1	c.1106T>C (p.Val369Ala)
17	g.42404754A>T	CA399582437	CAVIN1	c.1106T>A (p.Val369Glu)
17	g.42404755C>A	CA399582440	CAVIN1	c.1105G>T (p.Val369Leu)	gnomAD v4
17	g.42404755C>G	CA399582443	CAVIN1	c.1105G>C (p.Val369Leu)
17	g.42404755C>T	CA399582445	CAVIN1	c.1105G>A (p.Val369Met)	gnomAD v4
17	g.42404757_42404759dup	CA2576275144	CAVIN1	c.1103_1105dup (p.Asp368_Val369insAsp)
17	g.42404756del	CA2637956458	CAVIN1	c.1104del (p.Asp368GlufsTer?)	gnomAD v4
17	g.42404756G>A	CA500215477	CAVIN1	c.1104C>T (p.Asp368=)	dbSNP gnomAD v4
17	g.42404756G>C	CA399582448	CAVIN1	c.1104C>G (p.Asp368Glu)
17	g.42404756G=	CA2260466791	CAVIN1	c.1104C= (p.Asp368=)
17	g.42404756G>T	CA399582449	CAVIN1	c.1104C>A (p.Asp368Glu)	gnomAD v4
17	g.42404757T>A	CA399582456	CAVIN1	c.1103A>T (p.Asp368Val)
17	g.42404757T>C	CA399582454	CAVIN1	c.1103A>G (p.Asp368Gly)	gnomAD v4
17	g.42404757T>G	CA399582452	CAVIN1	c.1103A>C (p.Asp368Ala)
17	g.42404757_42404758insTGGCTT	CA2809521821	CAVIN1	c.1103_1104insAGCCAA (p.Asp368delinsGluAlaAsn)
17	g.42404761_42404844del	CA2637956459	CAVIN1	c.1020_1103del (p.Glu340_Pro367del)	gnomAD v4
17	g.42404758C>A	CA399582460	CAVIN1	c.1102G>T (p.Asp368Tyr)	gnomAD v4
17	g.42404758C=	CA2260466792	CAVIN1	c.1102G= (p.Asp368=)
17	g.42404758C>G	CA399582463	CAVIN1	c.1102G>C (p.Asp368His)
17	g.42404758C>T	CA8575749	CAVIN1	c.1102G>A (p.Asp368Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404759G>A	CA500215480	CAVIN1	c.1101C>T (p.Pro367=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404759G>C	CA500215478	CAVIN1	c.1101C>G (p.Pro367=)	dbSNP gnomAD v2 gnomAD v4
17	g.42404759G=	CA2260466793	CAVIN1	c.1101C= (p.Pro367=)
17	g.42404759G>T	CA500215479	CAVIN1	c.1101C>A (p.Pro367=)	dbSNP gnomAD v2 gnomAD v4
17	g.42404762del	CA2637956460	CAVIN1	c.1101del (p.Asp368ThrfsTer?)	gnomAD v4
17	g.42404760G>A	CA399582466	CAVIN1	c.1100C>T (p.Pro367Leu)
17	g.42404760G>C	CA399582468	CAVIN1	c.1100C>G (p.Pro367Arg)
17	g.42404760G=	CA2260466794	CAVIN1	c.1100C= (p.Pro367=)
17	g.42404760G>T	CA290750300	CAVIN1	c.1100C>A (p.Pro367His)	dbSNP
17	g.42404760_42404761insT	CA2809521822	CAVIN1	c.1099_1100insA (p.Pro367HisfsTer?)
17	g.42404761G>A	CA8575750	CAVIN1	c.1099C>T (p.Pro367Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404761G>C	CA399582475	CAVIN1	c.1099C>G (p.Pro367Ala)	gnomAD v4
17	g.42404761G=	CA2260466795	CAVIN1	c.1099C= (p.Pro367=)
17	g.42404761G>T	CA399582477	CAVIN1	c.1099C>A (p.Pro367Thr)	gnomAD v4
17	g.42404762G>A	CA500215481	CAVIN1	c.1098C>T (p.Ser366=)	gnomAD v4
17	g.42404762G>C	CA399582480	CAVIN1	c.1098C>G (p.Ser366Arg)
17	g.42404762G>T	CA399582482	CAVIN1	c.1098C>A (p.Ser366Arg)	gnomAD v4
17	g.42404763C>A	CA399582483	CAVIN1	c.1097G>T (p.Ser366Ile)	dbSNP gnomAD v2 gnomAD v4
17	g.42404763C=	CA2260466796	CAVIN1	c.1097G= (p.Ser366=)
17	g.42404763C>G	CA399582486	CAVIN1	c.1097G>C (p.Ser366Thr)
17	g.42404763C>T	CA399582488	CAVIN1	c.1097G>A (p.Ser366Asn)
17	g.42404764T>A	CA399582490	CAVIN1	c.1096A>T (p.Ser366Cys)
17	g.42404764T>C	CA399582494	CAVIN1	c.1096A>G (p.Ser366Gly)	gnomAD v4
17	g.42404764T>G	CA399582492	CAVIN1	c.1096A>C (p.Ser366Arg)
17	g.42404765G>A	CA500215482	CAVIN1	c.1095C>T (p.Ser365=)	gnomAD v4
17	g.42404765G>C	CA399582496	CAVIN1	c.1095C>G (p.Ser365Arg)
17	g.42404765G>T	CA399582498	CAVIN1	c.1095C>A (p.Ser365Arg)	gnomAD v4
17	g.42404766C>A	CA399582499	CAVIN1	c.1094G>T (p.Ser365Ile)	gnomAD v4 COSMIC
17	g.42404766C>G	CA399582501	CAVIN1	c.1094G>C (p.Ser365Thr)
17	g.42404766C>T	CA399582503	CAVIN1	c.1094G>A (p.Ser365Asn)	gnomAD v4
17	g.42404767T>A	CA399582505	CAVIN1	c.1093A>T (p.Ser365Cys)
17	g.42404767T>C	CA399582507	CAVIN1	c.1093A>G (p.Ser365Gly)	dbSNP gnomAD v2 gnomAD v4
17	g.42404767T>G	CA399582509	CAVIN1	c.1093A>C (p.Ser365Arg)
17	g.42404767T=	CA2260466797	CAVIN1	c.1093A= (p.Ser365=)
17	g.42404768C>A	CA500215484	CAVIN1	c.1092G>T (p.Gly364=)
17	g.42404768C>G	CA500215485	CAVIN1	c.1092G>C (p.Gly364=)
17	g.42404768C>T	CA500215483	CAVIN1	c.1092G>A (p.Gly364=)	gnomAD v4
17	g.42404769_42404798del	CA2637956461	CAVIN1	c.1063_1092del (p.Arg355_Gly364del)	gnomAD v4
17	g.42404768_42404799delinsCCCGCGCCGCAGGTCGCCGGCCTCCCCGCGCT	CA2260466798	CAVIN1	c.1061_1092delinsAGCGCGGGGAGGCCGGCGACCTGCGGCGCGGG (p.Glu354=)
17	g.42404769C>A	CA399582511	CAVIN1	c.1091G>T (p.Gly364Val)	gnomAD v4
17	g.42404769C=	CA2260466799	CAVIN1	c.1091G= (p.Gly364=)
17	g.42404769C>G	CA399582513	CAVIN1	c.1091G>C (p.Gly364Ala)
17	g.42404769C>T	CA290750306	CAVIN1	c.1091G>A (p.Gly364Glu)	dbSNP gnomAD v4
17	g.42404778_42404808del	CA626218338	CAVIN1	c.1061_1091del (p.Glu354GlyfsTer?)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404770C>A	CA399582516	CAVIN1	c.1090G>T (p.Gly364Trp)	gnomAD v4
17	g.42404770C=	CA2260466800	CAVIN1	c.1090G= (p.Gly364=)
17	g.42404770C>G	CA399582520	CAVIN1	c.1090G>C (p.Gly364Arg)	gnomAD v4
17	g.42404770C>T	CA399582518	CAVIN1	c.1090G>A (p.Gly364Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.42404771G>A	CA500215486	CAVIN1	c.1089C>T (p.Arg363=)	dbSNP
17	g.42404771G>C	CA500215487	CAVIN1	c.1089C>G (p.Arg363=)	dbSNP
17	g.42404771G=	CA2260466801	CAVIN1	c.1089C= (p.Arg363=)
17	g.42404771G>T	CA500215488	CAVIN1	c.1089C>A (p.Arg363=)	gnomAD v4
17	g.42404772C>A	CA399582523	CAVIN1	c.1088G>T (p.Arg363Leu)	gnomAD v4
17	g.42404772C=	CA2260466802	CAVIN1	c.1088G= (p.Arg363=)
17	g.42404772C>G	CA399582526	CAVIN1	c.1088G>C (p.Arg363Pro)
17	g.42404772C>T	CA290750307	CAVIN1	c.1088G>A (p.Arg363His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404773G>A	CA399582528	CAVIN1	c.1087C>T (p.Arg363Cys)	ClinVar gnomAD v4
17	g.42404773G>C	CA399582532	CAVIN1	c.1087C>G (p.Arg363Gly)	dbSNP gnomAD v2 gnomAD v4
17	g.42404773G=	CA2260466803	CAVIN1	c.1087C= (p.Arg363=)
17	g.42404773G>T	CA399582530	CAVIN1	c.1087C>A (p.Arg363Ser)	gnomAD v4
17	g.42404774C>A	CA500215489	CAVIN1	c.1086G>T (p.Arg362=)	gnomAD v4
17	g.42404774C>G	CA500215491	CAVIN1	c.1086G>C (p.Arg362=)
17	g.42404774C>T	CA500215490	CAVIN1	c.1086G>A (p.Arg362=)
17	g.42404775C>A	CA399582534	CAVIN1	c.1085G>T (p.Arg362Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404775C=	CA2260466804	CAVIN1	c.1085G= (p.Arg362=)
17	g.42404775C>G	CA399582536	CAVIN1	c.1085G>C (p.Arg362Pro)
17	g.42404775C>T	CA399582538	CAVIN1	c.1085G>A (p.Arg362Gln)	gnomAD v4
17	g.42404776G>A	CA399582541	CAVIN1	c.1084C>T (p.Arg362Trp)	dbSNP gnomAD v3 gnomAD v4
17	g.42404776G>C	CA399582542	CAVIN1	c.1084C>G (p.Arg362Gly)	dbSNP gnomAD v4
17	g.42404776G=	CA2260466805	CAVIN1	c.1084C= (p.Arg362=)
17	g.42404776G>T	CA500215492	CAVIN1	c.1084C>A (p.Arg362=)	gnomAD v4
17	g.42404777C>A	CA500215495	CAVIN1	c.1083G>T (p.Leu361=)
17	g.42404777C>G	CA500215493	CAVIN1	c.1083G>C (p.Leu361=)
17	g.42404777C>T	CA500215494	CAVIN1	c.1083G>A (p.Leu361=)	gnomAD v4
17	g.42404778A>C	CA399582545	CAVIN1	c.1082T>G (p.Leu361Arg)
17	g.42404778A>G	CA399582547	CAVIN1	c.1082T>C (p.Leu361Pro)	gnomAD v4
17	g.42404778A>T	CA399582548	CAVIN1	c.1082T>A (p.Leu361Gln)
17	g.42404779G>A	CA500215496	CAVIN1	c.1081C>T (p.Leu361=)	dbSNP gnomAD v2 gnomAD v4
17	g.42404779G>C	CA399582551	CAVIN1	c.1081C>G (p.Leu361Val)
17	g.42404779G=	CA2260466806	CAVIN1	c.1081C= (p.Leu361=)
17	g.42404779G>T	CA399582553	CAVIN1	c.1081C>A (p.Leu361Met)
17	g.42404780G>A	CA8575751	CAVIN1	c.1080C>T (p.Asp360=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404780G>C	CA399582557	CAVIN1	c.1080C>G (p.Asp360Glu)
17	g.42404780G=	CA2260466807	CAVIN1	c.1080C= (p.Asp360=)
17	g.42404780G>T	CA399582555	CAVIN1	c.1080C>A (p.Asp360Glu)
17	g.42404781T>A	CA399582560	CAVIN1	c.1079A>T (p.Asp360Val)
17	g.42404781T>C	CA399582562	CAVIN1	c.1079A>G (p.Asp360Gly)	gnomAD v3 gnomAD v4
17	g.42404781T>G	CA399582563	CAVIN1	c.1079A>C (p.Asp360Ala)
17	g.42404782C>A	CA399582564	CAVIN1	c.1078G>T (p.Asp360Tyr)	dbSNP gnomAD v4
17	g.42404782C=	CA2260466808	CAVIN1	c.1078G= (p.Asp360=)
17	g.42404782C>G	CA399582565	CAVIN1	c.1078G>C (p.Asp360His)
17	g.42404782C>T	CA399582567	CAVIN1	c.1078G>A (p.Asp360Asn)
17	g.42404783del	CA2637956462	CAVIN1	c.1077del (p.Asp360ThrfsTer?)	gnomAD v4
17	g.42404783G>A	CA290750320	CAVIN1	c.1077C>T (p.Gly359=)	dbSNP gnomAD v2 gnomAD v4
17	g.42404783G>C	CA500215497	CAVIN1	c.1077C>G (p.Gly359=)
17	g.42404783G=	CA2260466809	CAVIN1	c.1077C= (p.Gly359=)
17	g.42404783G>T	CA8575752	CAVIN1	c.1077C>A (p.Gly359=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404783_42404784insGC	CA2572730115	CAVIN1	c.1076_1077insGC (p.Asp360ProfsTer?)
17	g.42404784C>A	CA399582571	CAVIN1	c.1076G>T (p.Gly359Val)
17	g.42404784C=	CA2260466810	CAVIN1	c.1076G= (p.Gly359=)
17	g.42404784C>G	CA399582573	CAVIN1	c.1076G>C (p.Gly359Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404784C>T	CA399582574	CAVIN1	c.1076G>A (p.Gly359Asp)
17	g.42404784_42404785insTG	CA2594068999	CAVIN1	c.1075_1076insCA (p.Gly359AlafsTer?)	gnomAD v3 gnomAD v4
17	g.42404784_42404785insTGCGCTTGATA	CA2637956463	CAVIN1	c.1075_1076insTATCAAGCGCA (p.Gly359ValfsTer?)	gnomAD v4
17	g.42404785C>A	CA399582580	CAVIN1	c.1075G>T (p.Gly359Cys)
17	g.42404785C=	CA2260466811	CAVIN1	c.1075G= (p.Gly359=)
17	g.42404785C>G	CA399582578	CAVIN1	c.1075G>C (p.Gly359Arg)	gnomAD v4
17	g.42404785C>T	CA399582576	CAVIN1	c.1075G>A (p.Gly359Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404789_42404824del	CA2637956464	CAVIN1	c.1040_1075del (p.Asp347_Ala358del)	gnomAD v4
17	g.42404786G>A	CA500215498	CAVIN1	c.1074C>T (p.Ala358=)	dbSNP gnomAD v3 gnomAD v4 COSMIC
17	g.42404786G>C	CA500215500	CAVIN1	c.1074C>G (p.Ala358=)
17	g.42404786G=	CA2260466812	CAVIN1	c.1074C= (p.Ala358=)
17	g.42404786G>T	CA500215499	CAVIN1	c.1074C>A (p.Ala358=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404786_42404787del	CA2564259542	CAVIN1	c.1073_1074del (p.Ala358GlyfsTer?)
17	g.42404786_42404787insC	CA2637956465	CAVIN1	c.1073_1074insG (p.Gly359ArgfsTer?)	gnomAD v4
17	g.42404787G>A	CA399582582	CAVIN1	c.1073C>T (p.Ala358Val)	gnomAD v4
17	g.42404787G>C	CA399582583	CAVIN1	c.1073C>G (p.Ala358Gly)
17	g.42404787G>T	CA399582585	CAVIN1	c.1073C>A (p.Ala358Asp)	gnomAD v4
17	g.42404788C>A	CA399582588	CAVIN1	c.1072G>T (p.Ala358Ser)
17	g.42404788C>G	CA399582589	CAVIN1	c.1072G>C (p.Ala358Pro)	ClinVar
17	g.42404788C>T	CA399582591	CAVIN1	c.1072G>A (p.Ala358Thr)
17	g.42404789C>A	CA399582594	CAVIN1	c.1071G>T (p.Glu357Asp)
17	g.42404789C>G	CA399582596	CAVIN1	c.1071G>C (p.Glu357Asp)
17	g.42404789C>T	CA500215501	CAVIN1	c.1071G>A (p.Glu357=)	gnomAD v4
17	g.42404790T>A	CA399582598	CAVIN1	c.1070A>T (p.Glu357Val)
17	g.42404790T>C	CA399582600	CAVIN1	c.1070A>G (p.Glu357Gly)
17	g.42404790T>G	CA399582601	CAVIN1	c.1070A>C (p.Glu357Ala)
17	g.42404791C>A	CA399582604	CAVIN1	c.1069G>T (p.Glu357Ter)
17	g.42404791C>G	CA399582603	CAVIN1	c.1069G>C (p.Glu357Gln)
17	g.42404791C>T	CA399582602	CAVIN1	c.1069G>A (p.Glu357Lys)
17	g.42404794dup	CA2637956466	CAVIN1	c.1069dup (p.Glu357GlyfsTer?)	gnomAD v4
17	g.42404792C>A	CA500215504	CAVIN1	c.1068G>T (p.Gly356=)
17	g.42404792C=	CA2260466813	CAVIN1	c.1068G= (p.Gly356=)
17	g.42404792C>G	CA500215502	CAVIN1	c.1068G>C (p.Gly356=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404792C>T	CA500215503	CAVIN1	c.1068G>A (p.Gly356=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404793C>A	CA399582605	CAVIN1	c.1067G>T (p.Gly356Val)	gnomAD v4 COSMIC
17	g.42404793C>G	CA399582606	CAVIN1	c.1067G>C (p.Gly356Ala)
17	g.42404793C>T	CA399582607	CAVIN1	c.1067G>A (p.Gly356Glu)	gnomAD v4
17	g.42404793_42404802delinsCCGCGCTCCG	CA2260466814	CAVIN1	c.1058_1067delinsCGGAGCGCGG (p.Ala353=)
17	g.42404794C>A	CA8575753	CAVIN1	c.1066G>T (p.Gly356Trp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.42404794C=	CA2260466815	CAVIN1	c.1066G= (p.Gly356=)
17	g.42404794C>G	CA8575755	CAVIN1	c.1066G>C (p.Gly356Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42404794C>T	CA8575754	CAVIN1	c.1066G>A (p.Gly356Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42404797_42404805del	CA2260466816	CAVIN1	c.1058_1066del (p.Ala353_Arg355del)	dbSNP
17	g.42404795G>A	CA8575756	CAVIN1	c.1065C>T (p.Arg355=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404795G>C	CA500215505	CAVIN1	c.1065C>G (p.Arg355=)
17	g.42404795G=	CA2260466817	CAVIN1	c.1065C= (p.Arg355=)
17	g.42404795G>T	CA500215506	CAVIN1	c.1065C>A (p.Arg355=)
17	g.42404796C>A	CA399582608	CAVIN1	c.1064G>T (p.Arg355Leu)
17	g.42404796C>G	CA399582609	CAVIN1	c.1064G>C (p.Arg355Pro)
17	g.42404796C>T	CA399582610	CAVIN1	c.1064G>A (p.Arg355His)
17	g.42404797G>A	CA399582611	CAVIN1	c.1063C>T (p.Arg355Cys)	gnomAD v4
17	g.42404797G>C	CA399582612	CAVIN1	c.1063C>G (p.Arg355Gly)
17	g.42404797G>T	CA399582613	CAVIN1	c.1063C>A (p.Arg355Ser)
17	g.42404798C>A	CA399582615	CAVIN1	c.1062G>T (p.Glu354Asp)
17	g.42404798C>G	CA399582614	CAVIN1	c.1062G>C (p.Glu354Asp)
17	g.42404798C>T	CA500215507	CAVIN1	c.1062G>A (p.Glu354=)	gnomAD v4
17	g.42404799T>A	CA399582616	CAVIN1	c.1061A>T (p.Glu354Val)
17	g.42404799T>C	CA399582618	CAVIN1	c.1061A>G (p.Glu354Gly)
17	g.42404799T>G	CA399582617	CAVIN1	c.1061A>C (p.Glu354Ala)
17	g.42404800C>A	CA399582619	CAVIN1	c.1060G>T (p.Glu354Ter)	gnomAD v4
17	g.42404800C=	CA2260466818	CAVIN1	c.1060G= (p.Glu354=)
17	g.42404800C>G	CA399582620	CAVIN1	c.1060G>C (p.Glu354Gln)	gnomAD v4 COSMIC
17	g.42404800C>T	CA399582621	CAVIN1	c.1060G>A (p.Glu354Lys)	dbSNP gnomAD v4
17	g.42404801C>A	CA290750351	CAVIN1	c.1059G>T (p.Ala353=)	dbSNP
17	g.42404801C=	CA2260466819	CAVIN1	c.1059G= (p.Ala353=)
17	g.42404801C>G	CA500215509	CAVIN1	c.1059G>C (p.Ala353=)
17	g.42404801C>T	CA500215508	CAVIN1	c.1059G>A (p.Ala353=)	gnomAD v4

Number of alleles fetched