Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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
12	g.52492672T>A	CA384963329	KRT6A	c.517A>T (p.Lys173Ter) n.38A>T
12	g.52492672T>C	CA384963330	KRT6A	c.517A>G (p.Lys173Glu) n.38A>G
12	g.52492672T>G	CA384963331	KRT6A	c.517A>C (p.Lys173Gln) n.38A>C
12	g.52492673G>A	CA480069814	KRT6A	c.516C>T (p.Asn172=) n.37C>T
12	g.52492673G>C	CA384963332	KRT6A	c.516C>G (p.Asn172Lys) n.37C>G
12	g.52492673G>T	CA384963333	KRT6A	c.516C>A (p.Asn172Lys) n.37C>A
12	g.52492674T>A	CA384963339	KRT6A	c.515A>T (p.Asn172Ile) n.36A>T
12	g.52492674T>C	CA384963345	KRT6A	c.515A>G (p.Asn172Ser) n.36A>G	dbSNP gnomAD v2 gnomAD v4
12	g.52492674T>G	CA384963347	KRT6A	c.515A>C (p.Asn172Thr) n.36A>C
12	g.52492674T=	CA2036522734	KRT6A	c.515A= (p.Asn172=) n.36A=
12	g.52492675T>A	CA384963355	KRT6A	c.514A>T (p.Asn172Tyr) n.35A>T
12	g.52492675T>C	CA384963358	KRT6A	c.514A>G (p.Asn172Asp) n.35A>G
12	g.52492675T>G	CA384963367	KRT6A	c.514A>C (p.Asn172His) n.35A>C
12	g.52492676G>A	CA480069818	KRT6A	c.513C>T (p.Asn171=) n.34C>T	gnomAD v4
12	g.52492676G>C	CA384963368	KRT6A	c.513C>G (p.Asn171Lys) n.34C>G
12	g.52492676G=	CA2036522735	KRT6A	c.513C= (p.Asn171=) n.34C=
12	g.52492676G>T	CA217356	KRT6A	c.513C>A (p.Asn171Lys) n.34C>A	ClinVar dbSNP
12	g.52492677T>A	CA384963375	KRT6A	c.512A>T (p.Asn171Ile) n.33A>T
12	g.52492677T>C	CA217355	KRT6A	c.512A>G (p.Asn171Ser) n.33A>G	ClinVar dbSNP
12	g.52492677T>G	CA217353	KRT6A	c.512A>C (p.Asn171Thr) n.33A>C	ClinVar dbSNP
12	g.52492677T=	CA2036522736	KRT6A	c.512A= (p.Asn171=) n.33A=
12	g.52492678T>A	CA217352	KRT6A	c.511A>T (p.Asn171Tyr) n.32A>T	ClinVar dbSNP
12	g.52492678T>C	CA217351	KRT6A	c.511A>G (p.Asn171Asp) n.32A>G	ClinVar dbSNP
12	g.52492678T>G	CA16619573	KRT6A	c.511A>C (p.Asn171His) n.32A>C	ClinVar dbSNP
12	g.52492678T=	CA2036522737	KRT6A	c.511A= (p.Asn171=) n.32A=
12	g.52492679G>A	CA480069822	KRT6A	c.510C>T (p.Leu170=) n.31C>T	dbSNP gnomAD v2 gnomAD v4
12	g.52492679G>C	CA480069823	KRT6A	c.510C>G (p.Leu170=) n.31C>G
12	g.52492679G=	CA2036522738	KRT6A	c.510C= (p.Leu170=) n.31C=
12	g.52492679G>T	CA480069824	KRT6A	c.510C>A (p.Leu170=) n.31C>A
12	g.52492680A>C	CA384963387	KRT6A	c.509T>G (p.Leu170Arg) n.30T>G
12	g.52492680A>G	CA384963388	KRT6A	c.509T>C (p.Leu170Pro) n.30T>C
12	g.52492680A>T	CA384963390	KRT6A	c.509T>A (p.Leu170His) n.30T>A
12	g.52492681G>A	CA217350	KRT6A	c.508C>T (p.Leu170Phe) n.29C>T	ClinVar dbSNP
12	g.52492681G>C	CA384963392	KRT6A	c.508C>G (p.Leu170Val) n.29C>G
12	g.52492681G=	CA2036522739	KRT6A	c.508C= (p.Leu170=) n.29C=
12	g.52492681G>T	CA384963394	KRT6A	c.508C>A (p.Leu170Ile) n.29C>A
12	g.52492682G>A	CA480069825	KRT6A	c.507C>T (p.Thr169=) n.28C>T	dbSNP

Number of alleles fetched