Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104734_80107789del	CA658795223	GAA	c.148_859-11del	ClinVar
17	g.80104822_80104832del	CA16041880	GAA	c.236_246del (p.Pro79ArgfsTer13)	ClinVar dbSNP
17	g.80104828del	CA2739265767	GAA	c.242del (p.Gln81ArgfsTer?)	ClinVar
17	g.80104828A=	CA2277810663	GAA	c.242A= (p.Gln81=)
17	g.80104828A>C	CA401360520	GAA	c.242A>C (p.Gln81Pro)
17	g.80104828A>G	CA401360521	GAA	c.242A>G (p.Gln81Arg)	dbSNP
17	g.80104828A>T	CA401360522	GAA	c.242A>T (p.Gln81Leu)
17	g.80104829G>A	CA502402190	GAA	c.243G>A (p.Gln81=)
17	g.80104829G>C	CA401360523	GAA	c.243G>C (p.Gln81His)
17	g.80104829G=	CA2277810664	GAA	c.243G= (p.Gln81=)
17	g.80104829G>T	CA401360524	GAA	c.243G>T (p.Gln81His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104830T>A	CA401360525	GAA	c.244T>A (p.Cys82Ser)
17	g.80104830T>C	CA401360526	GAA	c.244T>C (p.Cys82Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104830T>G	CA401360527	GAA	c.244T>G (p.Cys82Gly)	gnomAD v4
17	g.80104830T=	CA2277810665	GAA	c.244T= (p.Cys82=)
17	g.80104831G>A	CA401360528	GAA	c.245G>A (p.Cys82Tyr)
17	g.80104831G>C	CA401360529	GAA	c.245G>C (p.Cys82Ser)
17	g.80104831G>T	CA401360530	GAA	c.245G>T (p.Cys82Phe)
17	g.80104832C>A	CA401360532	GAA	c.246C>A (p.Cys82Ter)	ClinVar dbSNP
17	g.80104832C=	CA2277810666	GAA	c.246C= (p.Cys82=)
17	g.80104832C>G	CA401360531	GAA	c.246C>G (p.Cys82Trp)
17	g.80104832C>T	CA8814821	GAA	c.246C>T (p.Cys82=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104833G>A	CA8814822	GAA	c.247G>A (p.Asp83Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104833G>C	CA401360533	GAA	c.247G>C (p.Asp83His)
17	g.80104833G=	CA2277810667	GAA	c.247G= (p.Asp83=)
17	g.80104833G>T	CA401360534	GAA	c.247G>T (p.Asp83Tyr)
17	g.80104834A=	CA2277810668	GAA	c.248A= (p.Asp83=)
17	g.80104834A>C	CA401360535	GAA	c.248A>C (p.Asp83Ala)
17	g.80104834A>G	CA401360536	GAA	c.248A>G (p.Asp83Gly)
17	g.80104834A>T	CA8814823	GAA	c.248A>T (p.Asp83Val)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104835C>A	CA401360537	GAA	c.249C>A (p.Asp83Glu)
17	g.80104835C=	CA2277810669	GAA	c.249C= (p.Asp83=)
17	g.80104835C>G	CA401360538	GAA	c.249C>G (p.Asp83Glu)
17	g.80104835C>T	CA8814824	GAA	c.249C>T (p.Asp83=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104836G>A	CA8814825	GAA	c.250G>A (p.Val84Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104836G>C	CA401360539	GAA	c.250G>C (p.Val84Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104836G=	CA2277810670	GAA	c.250G= (p.Val84=)
17	g.80104836G>T	CA401360540	GAA	c.250G>T (p.Val84Phe)
17	g.80104837T>A	CA401360541	GAA	c.251T>A (p.Val84Asp)
17	g.80104837T>C	CA401360543	GAA	c.251T>C (p.Val84Ala)	COSMIC
17	g.80104837T>G	CA401360542	GAA	c.251T>G (p.Val84Gly)	dbSNP gnomAD v2 gnomAD v4
17	g.80104837T=	CA2277810672	GAA	c.251T= (p.Val84=)
17	g.80104837_80104838del	CA913014076	GAA	c.251_252del (p.Val84AlafsTer11)
17	g.80104837_80104838delinsTC	CA2277810671	GAA	c.251_252delinsTC (p.Val84=)
17	g.80104838C>A	CA294886919	GAA	c.252C>A (p.Val84=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104838C=	CA2277810673	GAA	c.252C= (p.Val84=)
17	g.80104838C>G	CA502402191	GAA	c.252C>G (p.Val84=)
17	g.80104838C>T	CA8814827	GAA	c.252C>T (p.Val84=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104844dup	CA8814826	GAA	c.258dup (p.Asn87GlnfsTer9)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80104844del	CA502402192	GAA	c.258del (p.Asn87ThrfsTer?)	ClinVar dbSNP gnomAD v4 COSMIC

Number of alleles fetched