Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.71147137_71147152del	CA2614884936	SHANK2	c.177_192del (p.Ile59MetfsTer28)	gnomAD v4
11	g.71147136T>A	CA381961123	SHANK2	c.191A>T (p.His64Leu)
11	g.71147136T>C	CA10640014	SHANK2	c.191A>G (p.His64Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147136T>G	CA6162166	SHANK2	c.191A>C (p.His64Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147136T=	CA1981346030	SHANK2	c.191A= (p.His64=)
11	g.71147137G>A	CA381961124	SHANK2	c.190C>T (p.His64Tyr)
11	g.71147137G>C	CA381961125	SHANK2	c.190C>G (p.His64Asp)
11	g.71147137G>T	CA381961126	SHANK2	c.190C>A (p.His64Asn)	gnomAD v4
11	g.71147138G>A	CA475815176	SHANK2	c.189C>T (p.Ile63=)
11	g.71147138G>C	CA381961127	SHANK2	c.189C>G (p.Ile63Met)
11	g.71147138G>T	CA475815175	SHANK2	c.189C>A (p.Ile63=)	gnomAD v4
11	g.71147139A=	CA1981346034	SHANK2	c.188T= (p.Ile63=)
11	g.71147139A>C	CA381961128	SHANK2	c.188T>G (p.Ile63Ser)
11	g.71147139A>G	CA381961129	SHANK2	c.188T>C (p.Ile63Thr)	dbSNP
11	g.71147139A>T	CA381961130	SHANK2	c.188T>A (p.Ile63Asn)
11	g.71147139_71147147delinsATGACCACG	CA1981346035	SHANK2	c.180_188delinsCGTGGTCAT (p.Arg60=)
11	g.71147140T>A	CA381961131	SHANK2	c.187A>T (p.Ile63Phe)
11	g.71147140T>C	CA381961132	SHANK2	c.187A>G (p.Ile63Val)
11	g.71147140T>G	CA381961133	SHANK2	c.187A>C (p.Ile63Leu)
11	g.71147140_71147147del	CA939354817	SHANK2	c.180_187del (p.Val61ProfsTer2)	ClinVar dbSNP gnomAD v3 gnomAD v4
11	g.71147141G>A	CA475815177	SHANK2	c.186C>T (p.Val62=)
11	g.71147141G>C	CA475815179	SHANK2	c.186C>G (p.Val62=)
11	g.71147141G>T	CA475815178	SHANK2	c.186C>A (p.Val62=)	gnomAD v4
11	g.71147142A>C	CA381961134	SHANK2	c.185T>G (p.Val62Gly)
11	g.71147142A>G	CA381961135	SHANK2	c.185T>C (p.Val62Ala)	gnomAD v4
11	g.71147142A>T	CA381961136	SHANK2	c.185T>A (p.Val62Asp)
11	g.71147143C>A	CA381961139	SHANK2	c.184G>T (p.Val62Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147143C=	CA1981346043	SHANK2	c.184G= (p.Val62=)
11	g.71147143C>G	CA381961137	SHANK2	c.184G>C (p.Val62Leu)	gnomAD v4
11	g.71147143C>T	CA381961138	SHANK2	c.184G>A (p.Val62Ile)
11	g.71147144C>A	CA475815182	SHANK2	c.183G>T (p.Val61=)	gnomAD v4
11	g.71147144C>G	CA475815183	SHANK2	c.183G>C (p.Val61=)
11	g.71147144C>T	CA475815184	SHANK2	c.183G>A (p.Val61=)	gnomAD v4
11	g.71147145A>C	CA381961140	SHANK2	c.182T>G (p.Val61Gly)
11	g.71147145A>G	CA381961141	SHANK2	c.182T>C (p.Val61Ala)
11	g.71147145A>T	CA381961142	SHANK2	c.182T>A (p.Val61Glu)
11	g.71147146C>A	CA381961143	SHANK2	c.181G>T (p.Val61Leu)
11	g.71147146C=	CA1981346045	SHANK2	c.181G= (p.Val61=)
11	g.71147146C>G	CA381961144	SHANK2	c.181G>C (p.Val61Leu)
11	g.71147146C>T	CA381961145	SHANK2	c.181G>A (p.Val61Met)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147147G>A	CA475815185	SHANK2	c.180C>T (p.Arg60=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147147G>C	CA475815186	SHANK2	c.180C>G (p.Arg60=)
11	g.71147147G=	CA1981346046	SHANK2	c.180C= (p.Arg60=)
11	g.71147147G>T	CA475815187	SHANK2	c.180C>A (p.Arg60=)
11	g.71147147_71147148insACACGATTACGAGGCGGGCTTTAGCGGCTCTAAAAAGAGTTGGCTTGGATGATAAAACAGCTGAAAGTCCATATGACCTGTCATTGT	CA475815188	SHANK2	c.179_180insACAATGACAGGTCATATGGACTTTCAGCTGTTTTATCATCCAAGCCAACTCTTTTTAGAGCCGCTAAAGCCCGCCTCGTAATCGTGT (p.Arg61GlnfsTer2)
11	g.71147148C>A	CA381961146	SHANK2	c.179G>T (p.Arg60Leu)
11	g.71147148C=	CA1981346049	SHANK2	c.179G= (p.Arg60=)
11	g.71147148C>G	CA381961147	SHANK2	c.179G>C (p.Arg60Pro)
11	g.71147148C>T	CA6162167	SHANK2	c.179G>A (p.Arg60His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147149G>A	CA6162168	SHANK2	c.178C>T (p.Arg60Cys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched