Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.52492657_52492660delinsTGAA	CA2036522726	KRT6A	c.529_532delinsTTCA (p.Phe177=) n.50_53delinsTTCA
12	g.52492659_52492661del	CA16619572	KRT6A	c.529_531del (p.Phe177del) n.50_52del	ClinVar dbSNP
12	g.52492659A>C	CA384963244	KRT6A	c.530T>G (p.Phe177Cys) n.51T>G
12	g.52492659A>G	CA384963248	KRT6A	c.530T>C (p.Phe177Ser) n.51T>C
12	g.52492659A>T	CA384963249	KRT6A	c.530T>A (p.Phe177Tyr) n.51T>A
12	g.52492660A=	CA2036522727	KRT6A	c.529T= (p.Phe177=) n.50T=
12	g.52492660A>C	CA384963253	KRT6A	c.529T>G (p.Phe177Val) n.50T>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52492660A>G	CA384963252	KRT6A	c.529T>C (p.Phe177Leu) n.50T>C
12	g.52492660A>T	CA384963251	KRT6A	c.529T>A (p.Phe177Ile) n.50T>A
12	g.52492661G>A	CA6582245	KRT6A	c.528C>T (p.Ser176=) n.49C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52492661G>C	CA480069789	KRT6A	c.528C>G (p.Ser176=) n.49C>G
12	g.52492661G=	CA2036522728	KRT6A	c.528C= (p.Ser176=) n.49C=
12	g.52492661G>T	CA480069790	KRT6A	c.528C>A (p.Ser176=) n.49C>A
12	g.52492662G>A	CA384963255	KRT6A	c.527C>T (p.Ser176Phe) n.48C>T
12	g.52492662G>C	CA384963257	KRT6A	c.527C>G (p.Ser176Cys) n.48C>G
12	g.52492662G>T	CA384963263	KRT6A	c.527C>A (p.Ser176Tyr) n.48C>A
12	g.52492663A=	CA2036522729	KRT6A	c.526T= (p.Ser176=) n.47T=
12	g.52492663A>C	CA384963273	KRT6A	c.526T>G (p.Ser176Ala) n.47T>G	gnomAD v4
12	g.52492663A>G	CA217360	KRT6A	c.526T>C (p.Ser176Pro) n.47T>C	ClinVar dbSNP COSMIC
12	g.52492663A>T	CA384963275	KRT6A	c.526T>A (p.Ser176Thr) n.47T>A
12	g.52492664G>A	CA480069793	KRT6A	c.525C>T (p.Ala175=) n.46C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52492664G>C	CA480069794	KRT6A	c.525C>G (p.Ala175=) n.46C>G
12	g.52492664G=	CA2036522730	KRT6A	c.525C= (p.Ala175=) n.46C=
12	g.52492664G>T	CA480069795	KRT6A	c.525C>A (p.Ala175=) n.46C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52492665G>A	CA384963276	KRT6A	c.524C>T (p.Ala175Val) n.45C>T	COSMIC
12	g.52492665G>C	CA384963277	KRT6A	c.524C>G (p.Ala175Gly) n.45C>G
12	g.52492665G>T	CA384963278	KRT6A	c.524C>A (p.Ala175Asp) n.45C>A	gnomAD v4
12	g.52492666C>A	CA384963282	KRT6A	c.523G>T (p.Ala175Ser) n.44G>T	gnomAD v4
12	g.52492666C>G	CA384963285	KRT6A	c.523G>C (p.Ala175Pro) n.44G>C
12	g.52492666C>T	CA384963289	KRT6A	c.523G>A (p.Ala175Thr) n.44G>A
12	g.52492667A>C	CA384963293	KRT6A	c.522T>G (p.Phe174Leu) n.43T>G
12	g.52492667A>G	CA480069801	KRT6A	c.522T>C (p.Phe174=) n.43T>C
12	g.52492667A>T	CA384963294	KRT6A	c.522T>A (p.Phe174Leu) n.43T>A
12	g.52492668A=	CA2036522731	KRT6A	c.521T= (p.Phe174=) n.42T=
12	g.52492668A>C	CA217359	KRT6A	c.521T>G (p.Phe174Cys) n.42T>G	ClinVar dbSNP gnomAD v4
12	g.52492668A>G	CA170746	KRT6A	c.521T>C (p.Phe174Ser) n.42T>C	ClinVar dbSNP
12	g.52492668A>T	CA384963297	KRT6A	c.521T>A (p.Phe174Tyr) n.42T>A	gnomAD v4
12	g.52492669A=	CA2036522732	KRT6A	c.520T= (p.Phe174=) n.41T=
12	g.52492669A>C	CA124168	KRT6A	c.520T>G (p.Phe174Val) n.41T>G	ClinVar dbSNP gnomAD v4
12	g.52492669A>G	CA6582246	KRT6A	c.520T>C (p.Phe174Leu) n.41T>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52492669A>T	CA384963301	KRT6A	c.520T>A (p.Phe174Ile) n.41T>A
12	g.52492670C>A	CA384963302	KRT6A	c.519G>T (p.Lys173Asn) n.40G>T	gnomAD v4
12	g.52492670C>G	CA384963304	KRT6A	c.519G>C (p.Lys173Asn) n.40G>C
12	g.52492670C>T	CA480069810	KRT6A	c.519G>A (p.Lys173=) n.40G>A	gnomAD v4
12	g.52492670_52492673delinsCTTG	CA2036522733	KRT6A	c.516_519delinsCAAG (p.Asn172=) n.37_40delinsCAAG
12	g.52492671T>A	CA384963310	KRT6A	c.518A>T (p.Lys173Met) n.39A>T
12	g.52492671T>C	CA384963312	KRT6A	c.518A>G (p.Lys173Arg) n.39A>G
12	g.52492671T>G	CA384963314	KRT6A	c.518A>C (p.Lys173Thr) n.39A>C
12	g.52492671_52492673delinsGTT	CA237234859	KRT6A	c.516_518delinsAAC (p.Asn172_Lys173delinsLysThr) n.37_39delinsAAC
12	g.52492677_52492679del	CA217357	KRT6A	c.516_518del (p.Asn172del) n.37_39del	ClinVar dbSNP

Number of alleles fetched