Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.42404644_42404651del	CA2637956372	CAVIN1	c.41_48del (n.41_48del)	gnomAD v4
17	g.42404647G>A	CA2260466727	CAVIN1	c.40C>T (n.40C>T)	dbSNP gnomAD v4
17	g.42404647G=	CA2260466726	CAVIN1	c.40C= (n.40C=)
17	g.42404647G>T	CA2576275131	CAVIN1	c.40C>A (n.40C>A)	gnomAD v4
17	g.42404648G>A	CA2260466729	CAVIN1	c.39C>T (n.39C>T)	dbSNP gnomAD v4
17	g.42404648G>C	CA2741536222	CAVIN1	c.39C>G (n.39C>G)
17	g.42404648G=	CA2260466728	CAVIN1	c.39C= (n.39C=)
17	g.42404648G>T	CA2637956383	CAVIN1	c.39C>A (n.39C>A)	gnomAD v4
17	g.42404649A=	CA2260466730	CAVIN1	c.38T= (n.38T=)
17	g.42404649A>C	CA983833708	CAVIN1	c.38T>G (n.38T>G)	dbSNP gnomAD v3 gnomAD v4
17	g.42404649A>G	CA2637956385	CAVIN1	c.38T>C (n.38T>C)	gnomAD v4
17	g.42404650del	CA2637956384	CAVIN1	c.38del (n.38del)	gnomAD v4
17	g.42404650A>G	CA2637956386	CAVIN1	c.37T>C (n.37T>C)	gnomAD v4
17	g.42404650A>T	CA2637956387	CAVIN1	c.37T>A (n.37T>A)	gnomAD v4
17	g.42404651G>A	CA8575739	CAVIN1	c.36C>T (n.36C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404651G>C	CA2637956388	CAVIN1	c.36C>G (n.36C>G)	gnomAD v4
17	g.42404651G=	CA2260466731	CAVIN1	c.36C= (n.36C=)
17	g.42404651G>T	CA2637956389	CAVIN1	c.36C>A (n.36C>A)	gnomAD v4
17	g.42404652G>A	CA626050330	CAVIN1	c.35C>T (n.35C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404652G>C	CA2637956391	CAVIN1	c.35C>G (n.35C>G)	gnomAD v4
17	g.42404652G=	CA2260466732	CAVIN1	c.35C= (n.35C=)
17	g.42404652G>T	CA2637956390	CAVIN1	c.35C>A (n.35C>A)	gnomAD v4
17	g.42404653A>G	CA2637956392	CAVIN1	c.34T>C (n.34T>C)	gnomAD v4
17	g.42404654G>A	CA2637956393	CAVIN1	c.33C>T (n.33C>T)	gnomAD v4
17	g.42404654G>T	CA2637956394	CAVIN1	c.33C>A (n.33C>A)	gnomAD v4
17	g.42404655C>A	CA772120392	CAVIN1	c.32G>T (n.32G>T)	dbSNP gnomAD v4
17	g.42404655C=	CA2260466733	CAVIN1	c.32G= (n.32G=)
17	g.42404655C>G	CA2637956395	CAVIN1	c.32G>C (n.32G>C)	gnomAD v4
17	g.42404655C>T	CA2576275132	CAVIN1	c.32G>A (n.32G>A)	gnomAD v4
17	g.42404656G>A	CA2637956396	CAVIN1	c.31C>T (n.31C>T)	gnomAD v4
17	g.42404656G>C	CA8575740	CAVIN1	c.31C>G (n.31C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404656G=	CA2260466734	CAVIN1	c.31C= (n.31C=)
17	g.42404656G>T	CA2637956397	CAVIN1	c.31C>A (n.31C>A)	gnomAD v4
17	g.42404657A>G	CA2637956398	CAVIN1	c.30T>C (n.30T>C)	gnomAD v4
17	g.42404658G>A	CA626050331	CAVIN1	c.29C>T (n.29C>T)	dbSNP gnomAD v2 gnomAD v4
17	g.42404658G>C	CA2637956399	CAVIN1	c.29C>G (n.29C>G)	gnomAD v4
17	g.42404658G=	CA2260466735	CAVIN1	c.29C= (n.29C=)
17	g.42404658G>T	CA2637956400	CAVIN1	c.29C>A (n.29C>A)	gnomAD v4
17	g.42404659G>A	CA2637956401	CAVIN1	c.28C>T (n.28C>T)	gnomAD v4
17	g.42404659G>T	CA2637956402	CAVIN1	c.28C>A (n.28C>A)	gnomAD v4
17	g.42404660A>G	CA2637956403	CAVIN1	c.27T>C (n.27T>C)	gnomAD v4
17	g.42404660A>T	CA2637956404	CAVIN1	c.27T>A (n.27T>A)	gnomAD v4
17	g.42404661A>C	CA2637956405	CAVIN1	c.26T>G (n.26T>G)	gnomAD v4
17	g.42404661A>G	CA2637956406	CAVIN1	c.26T>C (n.26T>C)	gnomAD v4
17	g.42404661A>T	CA2637956407	CAVIN1	c.26T>A (n.26T>A)	gnomAD v4
17	g.42404662T>A	CA2637956408	CAVIN1	c.25A>T (n.25A>T)	gnomAD v4
17	g.42404662T>C	CA2576275133	CAVIN1	c.25A>G (n.25A>G)	gnomAD v4
17	g.42404663G>A	CA2637956409	CAVIN1	c.24C>T (n.24C>T)	gnomAD v4
17	g.42404663G>T	CA2576275135	CAVIN1	c.24C>A (n.24C>A)	gnomAD v4
17	g.42404666del	CA2576275134	CAVIN1	c.24del (n.24del)	gnomAD v4
17	g.42404664G>A	CA2637956410	CAVIN1	c.23C>T (n.23C>T)	gnomAD v4
17	g.42404664G>T	CA2637956411	CAVIN1	c.23C>A (n.23C>A)	gnomAD v4
17	g.42404665G>A	CA2637956412	CAVIN1	c.22C>T (n.22C>T)	gnomAD v4
17	g.42404665G>C	CA2637956413	CAVIN1	c.22C>G (n.22C>G)	gnomAD v4
17	g.42404665G>T	CA2637956414	CAVIN1	c.22C>A (n.22C>A)	gnomAD v4
17	g.42404666G>A	CA8575741	CAVIN1	c.21C>T (n.21C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42404666G=	CA2260466736	CAVIN1	c.21C= (n.21C=)
17	g.42404666G>T	CA2637956415	CAVIN1	c.21C>A (n.21C>A)	gnomAD v4
17	g.42404667T>A	CA2637956416	CAVIN1	c.20A>T (n.20A>T)	gnomAD v4
17	g.42404667T>C	CA2637956417	CAVIN1	c.20A>G (n.20A>G)	gnomAD v4
17	g.42404667T>G	CA626050333	CAVIN1	c.20A>C (n.20A>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404667T=	CA2260466737	CAVIN1	c.20A= (n.20A=)
17	g.42404668G>A	CA2576275136	CAVIN1	c.19C>T (n.19C>T)	gnomAD v4
17	g.42404668G>T	CA2637956418	CAVIN1	c.19C>A (n.19C>A)	gnomAD v4
17	g.42404670del	CA2637956419	CAVIN1	c.19del (n.19del)	gnomAD v4
17	g.42404669_42404670del	CA2809521820	CAVIN1	c.18_19del (n.18_19del)
17	g.42404669G>A	CA2637956420	CAVIN1	c.18C>T (n.18C>T)	gnomAD v4
17	g.42404669G>C	CA2637956421	CAVIN1	c.18C>G (n.18C>G)	gnomAD v4
17	g.42404669G=	CA2260466738	CAVIN1	c.18C= (n.18C=)
17	g.42404669G>T	CA626050335	CAVIN1	c.18C>A (n.18C>A)	dbSNP gnomAD v2 gnomAD v4
17	g.42404670G>A	CA2637956422	CAVIN1	c.17C>T (n.17C>T)	gnomAD v4
17	g.42404670G>T	CA2637956423	CAVIN1	c.17C>A (n.17C>A)	gnomAD v4
17	g.42404671del	CA2637956424	CAVIN1	c.16del (n.16del)	gnomAD v4
17	g.42404671T>A	CA2637956425	CAVIN1	c.16A>T (n.16A>T)	gnomAD v4
17	g.42404671T>C	CA2565468401	CAVIN1	c.16A>G (n.16A>G)	gnomAD v4
17	g.42404671T>G	CA2637956426	CAVIN1	c.16A>C (n.16A>C)	gnomAD v4
17	g.42404672G>A	CA2576275137	CAVIN1	c.15C>T (n.15C>T)	gnomAD v4
17	g.42404672G>T	CA2637956427	CAVIN1	c.15C>A (n.15C>A)	gnomAD v4
17	g.42404673G>A	CA2637956428	CAVIN1	c.14C>T (n.14C>T)	gnomAD v4
17	g.42404673G>T	CA2576275138	CAVIN1	c.14C>A (n.14C>A)	gnomAD v4
17	g.42404674C>A	CA2637956429	CAVIN1	c.13G>T (n.13G>T)	gnomAD v4
17	g.42404674C>G	CA2576275139	CAVIN1	c.13G>C (n.13G>C)
17	g.42404674C>T	CA2576275140	CAVIN1	c.13G>A (n.13G>A)	gnomAD v4
17	g.42404675A>G	CA2637956430	CAVIN1	c.12T>C (n.12T>C)	gnomAD v4
17	g.42404675A>T	CA2637956431	CAVIN1	c.12T>A (n.12T>A)	gnomAD v4
17	g.42404676G>A	CA2637956432	CAVIN1	c.11C>T (n.11C>T)	gnomAD v4
17	g.42404676G>C	CA2637956433	CAVIN1	c.11C>G (n.11C>G)	gnomAD v4
17	g.42404676G>T	CA2576275141	CAVIN1	c.11C>A (n.11C>A)	gnomAD v4
17	g.42404677del	CA2637956436	CAVIN1	c.10del (n.10del)	gnomAD v4
17	g.42404677C>A	CA2637956435	CAVIN1	c.10G>T (n.10G>T)	gnomAD v4
17	g.42404677C=	CA2260466739	CAVIN1	c.10G= (n.10G=)
17	g.42404677C>G	CA2637956434	CAVIN1	c.10G>C (n.10G>C)	gnomAD v4
17	g.42404677C>T	CA241647	CAVIN1	c.10G>A (n.10G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404678G>A	CA772120405	CAVIN1	c.9C>T (n.9C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.42404678G>C	CA2637956438	CAVIN1	c.9C>G (n.9C>G)	gnomAD v4
17	g.42404678G=	CA2260466740	CAVIN1	c.9C= (n.9C=)
17	g.42404678G>T	CA290750181	CAVIN1	c.9C>A (n.9C>A)	dbSNP gnomAD v3 gnomAD v4
17	g.42404682dup	CA2637956437	CAVIN1	c.9dup (n.9dup)	gnomAD v4
17	g.42404682del	CA626050337	CAVIN1	c.9del (n.9del)	gnomAD v2 gnomAD v4
17	g.42404679G>A	CA2637956439	CAVIN1	c.8C>T (n.8C>T)	gnomAD v4
17	g.42404679G>T	CA2637956440	CAVIN1	c.8C>A (n.8C>A)	gnomAD v4
17	g.42404680G>A	CA2260466742	CAVIN1	c.7C>T (n.7C>T)	dbSNP gnomAD v4
17	g.42404680G>C	CA2576275142	CAVIN1	c.7C>G (n.7C>G)	gnomAD v4
17	g.42404680G=	CA2260466741	CAVIN1	c.7C= (n.7C=)
17	g.42404680G>T	CA2637956441	CAVIN1	c.7C>A (n.7C>A)	gnomAD v4
17	g.42404681G>A	CA2637956442	CAVIN1	c.6C>T (n.6C>T)	gnomAD v4
17	g.42404681G>C	CA2637956443	CAVIN1	c.6C>G (n.6C>G)	gnomAD v4
17	g.42404681G=	CA2260466743	CAVIN1	c.6C= (n.6C=)
17	g.42404681G>T	CA626050339	CAVIN1	c.6C>A (n.6C>A)	dbSNP gnomAD v2 gnomAD v4
17	g.42404682G>A	CA983833714	CAVIN1	c.5C>T (n.5C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.42404682G=	CA2260466744	CAVIN1	c.5C= (n.5C=)
17	g.42404682G>T	CA2637956444	CAVIN1	c.5C>A (n.5C>A)	gnomAD v4
17	g.42404683del	CA2637956445	CAVIN1	c.4del (n.4del)	gnomAD v4
17	g.42404683C>A	CA2637956446	CAVIN1	c.4G>T (n.4G>T)	gnomAD v4
17	g.42404683C=	CA2260466745	CAVIN1	c.4G= (n.4G=)
17	g.42404683C>G	CA2637956447	CAVIN1	c.4G>C (n.4G>C)	gnomAD v4
17	g.42404683C>T	CA626050340	CAVIN1	c.4G>A (n.4G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404684G>A	CA2637956448	CAVIN1	c.3C>T (n.3C>T)	gnomAD v4
17	g.42404684G>C	CA2637956449	CAVIN1	c.3C>G (n.3C>G)	gnomAD v4
17	g.42404684G>T	CA2637956450	CAVIN1	c.3C>A (n.3C>A)	gnomAD v4
17	g.42404685G>A	CA8575742	CAVIN1	c.2C>T (n.2C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404685G>C	CA983833717	CAVIN1	c.2C>G (n.2C>G)	dbSNP gnomAD v3 gnomAD v4
17	g.42404685G=	CA2260466746	CAVIN1	c.2C= (n.2C=)
17	g.42404685G>T	CA2637956451	CAVIN1	c.2C>A (n.2C>A)	gnomAD v4
17	g.42404686C>A	CA2637956452	CAVIN1	c.1G>T (n.1G>T)	gnomAD v4
17	g.42404686C=	CA2260466747	CAVIN1	c.1G= (n.1G=)
17	g.42404686C>G	CA2733646995	CAVIN1	c.1G>C (n.1G>C)	dbSNP
17	g.42404686C>T	CA8575743	CAVIN1	c.1G>A (n.1G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404687T>A	CA399581815	CAVIN1	c.1173A>T (p.Ter391Cys)	gnomAD v4
17	g.42404687T>C	CA399581818	CAVIN1	c.1173A>G (p.Ter391Trp)	gnomAD v4
17	g.42404687T>G	CA399581823	CAVIN1	c.1173A>C (p.Ter391Cys)
17	g.42404688C>A	CA399581826	CAVIN1	c.1172G>T (p.Ter391Leu)	gnomAD v4
17	g.42404688C=	CA2260466748	CAVIN1	c.1172G= (p.Ter391=)
17	g.42404688C>G	CA399581830	CAVIN1	c.1172G>C (p.Ter391Ser)
17	g.42404688C>T	CA500060279	CAVIN1	c.1172G>A (p.Ter391=)	dbSNP gnomAD v2 gnomAD v4
17	g.42404689A=	CA2260466749	CAVIN1	c.1171T= (p.Ter391=)
17	g.42404689A>C	CA399581845	CAVIN1	c.1171T>G (p.Ter391Gly)	gnomAD v4
17	g.42404689A>G	CA399581842	CAVIN1	c.1171T>C (p.Ter391Arg)	dbSNP gnomAD v4
17	g.42404689A>T	CA399581834	CAVIN1	c.1171T>A (p.Ter391Arg)	gnomAD v4
17	g.42404690G>A	CA500060281	CAVIN1	c.1170C>T (p.Asp390=)	dbSNP gnomAD v2 gnomAD v4
17	g.42404690G>C	CA399581859	CAVIN1	c.1170C>G (p.Asp390Glu)	gnomAD v4
17	g.42404690G=	CA2260466750	CAVIN1	c.1170C= (p.Asp390=)
17	g.42404690G>T	CA399581864	CAVIN1	c.1170C>A (p.Asp390Glu)	gnomAD v4
17	g.42404691T>A	CA399581868	CAVIN1	c.1169A>T (p.Asp390Val)	gnomAD v4
17	g.42404691T>C	CA399581871	CAVIN1	c.1169A>G (p.Asp390Gly)	gnomAD v4
17	g.42404691T>G	CA399581877	CAVIN1	c.1169A>C (p.Asp390Ala)
17	g.42404692C>A	CA399581879	CAVIN1	c.1168G>T (p.Asp390Tyr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404692C=	CA2260466751	CAVIN1	c.1168G= (p.Asp390=)
17	g.42404692C>G	CA399581888	CAVIN1	c.1168G>C (p.Asp390His)
17	g.42404692C>T	CA399581891	CAVIN1	c.1168G>A (p.Asp390Asn)	gnomAD v4
17	g.42404693G>A	CA500060284	CAVIN1	c.1167C>T (p.Ser389=)	dbSNP gnomAD v2 gnomAD v4
17	g.42404693G>C	CA399581894	CAVIN1	c.1167C>G (p.Ser389Arg)
17	g.42404693G=	CA2260466752	CAVIN1	c.1167C= (p.Ser389=)
17	g.42404693G>T	CA399581898	CAVIN1	c.1167C>A (p.Ser389Arg)	gnomAD v4
17	g.42404694C>A	CA399581902	CAVIN1	c.1166G>T (p.Ser389Ile)	gnomAD v4
17	g.42404694C=	CA2260466753	CAVIN1	c.1166G= (p.Ser389=)
17	g.42404694C>G	CA399581904	CAVIN1	c.1166G>C (p.Ser389Thr)	dbSNP gnomAD v2
17	g.42404694C>T	CA399581915	CAVIN1	c.1166G>A (p.Ser389Asn)	gnomAD v4
17	g.42404695T>A	CA399581918	CAVIN1	c.1165A>T (p.Ser389Cys)	dbSNP gnomAD v4
17	g.42404695T>C	CA399581920	CAVIN1	c.1165A>G (p.Ser389Gly)	dbSNP gnomAD v4
17	g.42404695T>G	CA399581929	CAVIN1	c.1165A>C (p.Ser389Arg)
17	g.42404695T=	CA2260466754	CAVIN1	c.1165A= (p.Ser389=)
17	g.42404696G>A	CA500060286	CAVIN1	c.1164C>T (p.Asp388=)	gnomAD v4
17	g.42404696G>C	CA399581934	CAVIN1	c.1164C>G (p.Asp388Glu)	gnomAD v4
17	g.42404696G>T	CA399581939	CAVIN1	c.1164C>A (p.Asp388Glu)	gnomAD v4
17	g.42404697T>A	CA399581942	CAVIN1	c.1163A>T (p.Asp388Val)	gnomAD v4
17	g.42404697T>C	CA399581947	CAVIN1	c.1163A>G (p.Asp388Gly)	gnomAD v4
17	g.42404697T>G	CA399581953	CAVIN1	c.1163A>C (p.Asp388Ala)
17	g.42404698C>A	CA399581964	CAVIN1	c.1162G>T (p.Asp388Tyr)	dbSNP gnomAD v2 gnomAD v4
17	g.42404698C=	CA2260466755	CAVIN1	c.1162G= (p.Asp388=)
17	g.42404698C>G	CA399581966	CAVIN1	c.1162G>C (p.Asp388His)	gnomAD v4
17	g.42404698C>T	CA399581967	CAVIN1	c.1162G>A (p.Asp388Asn)	gnomAD v4
17	g.42404699_42404700del	CA2576275143	CAVIN1	c.1161_1162del (p.Ser387ArgfsTer?)
17	g.42404699G>A	CA500060287	CAVIN1	c.1161C>T (p.Ser387=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42404699G>C	CA399581968	CAVIN1	c.1161C>G (p.Ser387Arg)
17	g.42404699G=	CA2260466756	CAVIN1	c.1161C= (p.Ser387=)
17	g.42404699G>T	CA290750193	CAVIN1	c.1161C>A (p.Ser387Arg)	dbSNP gnomAD v4
17	g.42404700C>A	CA399581970	CAVIN1	c.1160G>T (p.Ser387Ile)	gnomAD v4
17	g.42404700C>G	CA399581977	CAVIN1	c.1160G>C (p.Ser387Thr)
17	g.42404700C>T	CA399581979	CAVIN1	c.1160G>A (p.Ser387Asn)	gnomAD v4
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

Number of alleles fetched