Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.52652060_52652061insAACACACCCAACA	CA2796002847	KRT2	c.84_85insTTGGGTGTGTTTG (p.Val29LeufsTer?)
12	g.52652060A=	CA2036598583	KRT2	c.83T= (p.Val28=)
12	g.52652060A>C	CA384945862	KRT2	c.83T>G (p.Val28Gly)
12	g.52652060A>G	CA384945863	KRT2	c.83T>C (p.Val28Ala)	dbSNP
12	g.52652060A>T	CA384945864	KRT2	c.83T>A (p.Val28Glu)
12	g.52652061C>A	CA384945870	KRT2	c.82G>T (p.Val28Leu)
12	g.52652061C=	CA2036598584	KRT2	c.82G= (p.Val28=)
12	g.52652061C>G	CA384945872	KRT2	c.82G>C (p.Val28Leu)
12	g.52652061C>T	CA384945868	KRT2	c.82G>A (p.Val28Met)	dbSNP gnomAD v2 gnomAD v4
12	g.52652062A>C	CA480072915	KRT2	c.81T>G (p.Ala27=)
12	g.52652062A>G	CA480072916	KRT2	c.81T>C (p.Ala27=)	gnomAD v4
12	g.52652062A>T	CA480072917	KRT2	c.81T>A (p.Ala27=)
12	g.52652063G>A	CA6585974	KRT2	c.80C>T (p.Ala27Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652063G>C	CA6585975	KRT2	c.80C>G (p.Ala27Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52652063G=	CA2036598587	KRT2	c.80C= (p.Ala27=)
12	g.52652063G>T	CA384945877	KRT2	c.80C>A (p.Ala27Asp)
12	g.52652064C>A	CA384945884	KRT2	c.79G>T (p.Ala27Ser)	gnomAD v4
12	g.52652064C>G	CA384945886	KRT2	c.79G>C (p.Ala27Pro)
12	g.52652064C>T	CA384945901	KRT2	c.79G>A (p.Ala27Thr)
12	g.52652065T>A	CA480072921	KRT2	c.78A>T (p.Ser26=)
12	g.52652065T>C	CA480072922	KRT2	c.78A>G (p.Ser26=)
12	g.52652065T>G	CA480072920	KRT2	c.78A>C (p.Ser26=)
12	g.52652066G>A	CA384945905	KRT2	c.77C>T (p.Ser26Leu)
12	g.52652066G>C	CA384945906	KRT2	c.77C>G (p.Ser26Ter)
12	g.52652066G>T	CA384945907	KRT2	c.77C>A (p.Ser26Ter)
12	g.52652067A>C	CA384945908	KRT2	c.76T>G (p.Ser26Ala)
12	g.52652067A>G	CA384945910	KRT2	c.76T>C (p.Ser26Pro)
12	g.52652067A>T	CA384945912	KRT2	c.76T>A (p.Ser26Thr)
12	g.52652068G>A	CA480072925	KRT2	c.75C>T (p.Gly25=)
12	g.52652068G>C	CA480072924	KRT2	c.75C>G (p.Gly25=)
12	g.52652068G>T	CA480072923	KRT2	c.75C>A (p.Gly25=)
12	g.52652069C>A	CA384945915	KRT2	c.74G>T (p.Gly25Val)
12	g.52652069C>G	CA384945916	KRT2	c.74G>C (p.Gly25Ala)	dbSNP
12	g.52652069C>T	CA384945920	KRT2	c.74G>A (p.Gly25Asp)	gnomAD v4
12	g.52652070C>A	CA384945922	KRT2	c.73G>T (p.Gly25Cys)
12	g.52652070C=	CA2036598590	KRT2	c.73G= (p.Gly25=)
12	g.52652070C>G	CA384945928	KRT2	c.73G>C (p.Gly25Arg)
12	g.52652070C>T	CA6585976	KRT2	c.73G>A (p.Gly25Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.52652071G>A	CA6585977	KRT2	c.72C>T (p.Ser24=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652071G>C	CA384945931	KRT2	c.72C>G (p.Ser24Arg)
12	g.52652071G=	CA2036598592	KRT2	c.72C= (p.Ser24=)
12	g.52652071G>T	CA6585978	KRT2	c.72C>A (p.Ser24Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52652072C>A	CA384945942	KRT2	c.71G>T (p.Ser24Ile)
12	g.52652072C=	CA2036598595	KRT2	c.71G= (p.Ser24=)
12	g.52652072C>G	CA384945951	KRT2	c.71G>C (p.Ser24Thr)
12	g.52652072C>T	CA384945954	KRT2	c.71G>A (p.Ser24Asn)	dbSNP gnomAD v2
12	g.52652073T>A	CA237244717	KRT2	c.70A>T (p.Ser24Cys)	dbSNP gnomAD v3 gnomAD v4
12	g.52652073T>C	CA384945957	KRT2	c.70A>G (p.Ser24Gly)
12	g.52652073T>G	CA384945958	KRT2	c.70A>C (p.Ser24Arg)
12	g.52652073T=	CA2036598596	KRT2	c.70A= (p.Ser24=)
12	g.52652074G>A	CA480072933	KRT2	c.69C>T (p.Ser23=)	gnomAD v4
12	g.52652074G>C	CA384945961	KRT2	c.69C>G (p.Ser23Arg)
12	g.52652074G>T	CA384945959	KRT2	c.69C>A (p.Ser23Arg)
12	g.52652075C>A	CA384945964	KRT2	c.68G>T (p.Ser23Ile)
12	g.52652075C>G	CA384945965	KRT2	c.68G>C (p.Ser23Thr)
12	g.52652075C>T	CA384945966	KRT2	c.68G>A (p.Ser23Asn)	COSMIC
12	g.52652076T>A	CA384945967	KRT2	c.67A>T (p.Ser23Cys)
12	g.52652076T>C	CA384945971	KRT2	c.67A>G (p.Ser23Gly)	dbSNP gnomAD v2 gnomAD v4
12	g.52652076T>G	CA384945976	KRT2	c.67A>C (p.Ser23Arg)
12	g.52652076T=	CA2036598598	KRT2	c.67A= (p.Ser23=)
12	g.52652077G>A	CA6585979	KRT2	c.66C>T (p.Phe22=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652077G>C	CA384945996	KRT2	c.66C>G (p.Phe22Leu)
12	g.52652077G=	CA2036598600	KRT2	c.66C= (p.Phe22=)
12	g.52652077G>T	CA384946010	KRT2	c.66C>A (p.Phe22Leu)
12	g.52652078A>C	CA384946021	KRT2	c.65T>G (p.Phe22Cys)
12	g.52652078A>G	CA384946025	KRT2	c.65T>C (p.Phe22Ser)
12	g.52652078A>T	CA384946034	KRT2	c.65T>A (p.Phe22Tyr)
12	g.52652079A=	CA2036598602	KRT2	c.64T= (p.Phe22=)
12	g.52652079A>C	CA384946050	KRT2	c.64T>G (p.Phe22Val)	gnomAD v4
12	g.52652079A>G	CA6585980	KRT2	c.64T>C (p.Phe22Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652079A>T	CA384946047	KRT2	c.64T>A (p.Phe22Ile)
12	g.52652080G>A	CA237244749	KRT2	c.63C>T (p.Gly21=)	dbSNP gnomAD v2 gnomAD v4
12	g.52652080G>C	CA480072942	KRT2	c.63C>G (p.Gly21=)	gnomAD v4
12	g.52652080G=	CA2036598604	KRT2	c.63C= (p.Gly21=)
12	g.52652080G>T	CA480072944	KRT2	c.63C>A (p.Gly21=)
12	g.52652081C>A	CA384946057	KRT2	c.62G>T (p.Gly21Val)
12	g.52652081C>G	CA384946062	KRT2	c.62G>C (p.Gly21Ala)
12	g.52652081C>T	CA384946065	KRT2	c.62G>A (p.Gly21Asp)
12	g.52652082C>A	CA384946076	KRT2	c.61G>T (p.Gly21Cys)
12	g.52652082C=	CA2036598607	KRT2	c.61G= (p.Gly21=)
12	g.52652082C>G	CA384946078	KRT2	c.61G>C (p.Gly21Arg)
12	g.52652082C>T	CA384946083	KRT2	c.61G>A (p.Gly21Ser)	dbSNP gnomAD v4
12	g.52652083C>A	CA480072946	KRT2	c.60G>T (p.Arg20=)
12	g.52652083C>G	CA480072947	KRT2	c.60G>C (p.Arg20=)
12	g.52652083C>T	CA480072948	KRT2	c.60G>A (p.Arg20=)
12	g.52652084C>A	CA384946090	KRT2	c.59G>T (p.Arg20Leu)	dbSNP gnomAD v2 gnomAD v4
12	g.52652084C=	CA2036598609	KRT2	c.59G= (p.Arg20=)
12	g.52652084C>G	CA384946094	KRT2	c.59G>C (p.Arg20Pro)
12	g.52652084C>T	CA237244757	KRT2	c.59G>A (p.Arg20Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652085G>A	CA6585981	KRT2	c.58C>T (p.Arg20Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652085G>C	CA384946095	KRT2	c.58C>G (p.Arg20Gly)
12	g.52652085G=	CA2036598612	KRT2	c.58C= (p.Arg20=)
12	g.52652085G>T	CA480072955	KRT2	c.58C>A (p.Arg20=)	gnomAD v4
12	g.52652086G>A	CA480072957	KRT2	c.57C>T (p.Phe19=)	COSMIC
12	g.52652086G>C	CA384946098	KRT2	c.57C>G (p.Phe19Leu)	gnomAD v4
12	g.52652086G>T	CA384946102	KRT2	c.57C>A (p.Phe19Leu)
12	g.52652087A=	CA2036598615	KRT2	c.56T= (p.Phe19=)
12	g.52652087A>C	CA384946110	KRT2	c.56T>G (p.Phe19Cys)	gnomAD v4
12	g.52652087A>G	CA6585982	KRT2	c.56T>C (p.Phe19Ser)	dbSNP ExAC gnomAD v4
12	g.52652087A>T	CA384946107	KRT2	c.56T>A (p.Phe19Tyr)
12	g.52652088A>C	CA384946112	KRT2	c.55T>G (p.Phe19Val)
12	g.52652088A>G	CA384946111	KRT2	c.55T>C (p.Phe19Leu)
12	g.52652088A>T	CA384946115	KRT2	c.55T>A (p.Phe19Ile)
12	g.52652089T>A	CA480072961	KRT2	c.54A>T (p.Gly18=)
12	g.52652089T>C	CA480072962	KRT2	c.54A>G (p.Gly18=)
12	g.52652089T>G	CA480072963	KRT2	c.54A>C (p.Gly18=)
12	g.52652090C>A	CA384946119	KRT2	c.53G>T (p.Gly18Val)	gnomAD v4
12	g.52652090C=	CA2036598617	KRT2	c.53G= (p.Gly18=)
12	g.52652090C>G	CA384946121	KRT2	c.53G>C (p.Gly18Ala)
12	g.52652090C>T	CA6585983	KRT2	c.53G>A (p.Gly18Glu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652091C>A	CA384946124	KRT2	c.52G>T (p.Gly18Ter)
12	g.52652091C=	CA2036598620	KRT2	c.52G= (p.Gly18=)
12	g.52652091C>G	CA384946129	KRT2	c.52G>C (p.Gly18Arg)
12	g.52652091C>T	CA6585984	KRT2	c.52G>A (p.Gly18Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652092T>A	CA480072968	KRT2	c.51A>T (p.Gly17=)
12	g.52652092T>C	CA480072969	KRT2	c.51A>G (p.Gly17=)	gnomAD v4
12	g.52652092T>G	CA480072970	KRT2	c.51A>C (p.Gly17=)
12	g.52652093C>A	CA384946139	KRT2	c.50G>T (p.Gly17Val)
12	g.52652093C>G	CA384946144	KRT2	c.50G>C (p.Gly17Ala)
12	g.52652093C>T	CA384946149	KRT2	c.50G>A (p.Gly17Glu)	gnomAD v4
12	g.52652094del	CA2618946493	KRT2	c.50del (p.Gly17GlufsTer27)	gnomAD v4
12	g.52652094C>A	CA384946157	KRT2	c.49G>T (p.Gly17Ter)
12	g.52652094C>G	CA384946164	KRT2	c.49G>C (p.Gly17Arg)
12	g.52652094C>T	CA384946169	KRT2	c.49G>A (p.Gly17Arg)
12	g.52652095T>A	CA480072974	KRT2	c.48A>T (p.Gly16=)
12	g.52652095T>C	CA480072975	KRT2	c.48A>G (p.Gly16=)
12	g.52652095T>G	CA480072976	KRT2	c.48A>C (p.Gly16=)
12	g.52652095_52652096delinsTC	CA2036598623	KRT2	c.47_48delinsGA (p.Gly16=)
12	g.52652096C>A	CA384946183	KRT2	c.47G>T (p.Gly16Val)
12	g.52652096C>G	CA384946190	KRT2	c.47G>C (p.Gly16Ala)
12	g.52652096C>T	CA384946186	KRT2	c.47G>A (p.Gly16Glu)	gnomAD v4
12	g.52652097del	CA2036598624	KRT2	c.47del (p.Gly16GlufsTer28)	dbSNP
12	g.52652097C>A	CA384946196	KRT2	c.46G>T (p.Gly16Ter)	gnomAD v4
12	g.52652097C>G	CA384946212	KRT2	c.46G>C (p.Gly16Arg)
12	g.52652097C>T	CA384946225	KRT2	c.46G>A (p.Gly16Arg)
12	g.52652098A=	CA2036598626	KRT2	c.45T= (p.Gly15=)
12	g.52652098A>C	CA480072979	KRT2	c.45T>G (p.Gly15=)
12	g.52652098A>G	CA480072980	KRT2	c.45T>C (p.Gly15=)
12	g.52652098A>T	CA6585985	KRT2	c.45T>A (p.Gly15=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652098_52652101delinsACCT	CA2036598627	KRT2	c.42_45delinsAGGT (p.Gly14=)
12	g.52652099C>A	CA384946238	KRT2	c.44G>T (p.Gly15Val)	gnomAD v4
12	g.52652099C>G	CA384946245	KRT2	c.44G>C (p.Gly15Ala)
12	g.52652099C>T	CA384946250	KRT2	c.44G>A (p.Gly15Asp)
12	g.52652106_52652108del	CA947726205	KRT2	c.42_44del (p.Gly15del)	dbSNP gnomAD v3 gnomAD v4
12	g.52652100C>A	CA384946254	KRT2	c.43G>T (p.Gly15Cys)	gnomAD v4
12	g.52652100C=	CA2036598628	KRT2	c.43G= (p.Gly15=)
12	g.52652100C>G	CA384946258	KRT2	c.43G>C (p.Gly15Arg)
12	g.52652100C>T	CA384946259	KRT2	c.43G>A (p.Gly15Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652101T>A	CA480072984	KRT2	c.42A>T (p.Gly14=)
12	g.52652101T>C	CA480072986	KRT2	c.42A>G (p.Gly14=)
12	g.52652101T>G	CA480072987	KRT2	c.42A>C (p.Gly14=)	dbSNP gnomAD v3 gnomAD v4
12	g.52652101T=	CA2036598630	KRT2	c.42A= (p.Gly14=)
12	g.52652102C>A	CA384946261	KRT2	c.41G>T (p.Gly14Val)	gnomAD v4
12	g.52652102C=	CA2036598631	KRT2	c.41G= (p.Gly14=)
12	g.52652102C>G	CA384946262	KRT2	c.41G>C (p.Gly14Ala)
12	g.52652102C>T	CA384946260	KRT2	c.41G>A (p.Gly14Glu)	dbSNP gnomAD v2
12	g.52652103C>A	CA384946266	KRT2	c.40G>T (p.Gly14Ter)
12	g.52652103C>G	CA384946269	KRT2	c.40G>C (p.Gly14Arg)
12	g.52652103C>T	CA384946273	KRT2	c.40G>A (p.Gly14Arg)	gnomAD v4
12	g.52652104T>A	CA480072991	KRT2	c.39A>T (p.Gly13=)
12	g.52652104T>C	CA6585986	KRT2	c.39A>G (p.Gly13=)	dbSNP ExAC gnomAD v2
12	g.52652104T>G	CA480072992	KRT2	c.39A>C (p.Gly13=)
12	g.52652104T=	CA2036598633	KRT2	c.39A= (p.Gly13=)
12	g.52652105C>A	CA384946286	KRT2	c.38G>T (p.Gly13Val)
12	g.52652105C=	CA2036598635	KRT2	c.38G= (p.Gly13=)
12	g.52652105C>G	CA384946293	KRT2	c.38G>C (p.Gly13Ala)
12	g.52652105C>T	CA384946295	KRT2	c.38G>A (p.Gly13Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.52652106C>A	CA384946306	KRT2	c.37G>T (p.Gly13Ter)	gnomAD v4
12	g.52652106C=	CA2036598637	KRT2	c.37G= (p.Gly13=)
12	g.52652106C>G	CA384946316	KRT2	c.37G>C (p.Gly13Arg)
12	g.52652106C>T	CA384946318	KRT2	c.37G>A (p.Gly13Arg)	dbSNP gnomAD v2 gnomAD v4
12	g.52652107T>A	CA384946324	KRT2	c.36A>T (p.Arg12Ser)
12	g.52652107T>C	CA480072999	KRT2	c.36A>G (p.Arg12=)	gnomAD v4
12	g.52652107T>G	CA384946326	KRT2	c.36A>C (p.Arg12Ser)
12	g.52652108C>A	CA384946336	KRT2	c.35G>T (p.Arg12Ile)
12	g.52652108C>G	CA384946340	KRT2	c.35G>C (p.Arg12Thr)
12	g.52652108C>T	CA384946334	KRT2	c.35G>A (p.Arg12Lys)
12	g.52652109T>A	CA384946345	KRT2	c.34A>T (p.Arg12Ter)
12	g.52652109T>C	CA384946351	KRT2	c.34A>G (p.Arg12Gly)	dbSNP gnomAD v2 gnomAD v4
12	g.52652109T>G	CA480073001	KRT2	c.34A>C (p.Arg12=)
12	g.52652109T=	CA2036598639	KRT2	c.34A= (p.Arg12=)
12	g.52652110T>A	CA480073004	KRT2	c.33A>T (p.Gly11=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652110T>C	CA480073003	KRT2	c.33A>G (p.Gly11=)	gnomAD v4
12	g.52652110T>G	CA480073002	KRT2	c.33A>C (p.Gly11=)
12	g.52652110T=	CA2036598641	KRT2	c.33A= (p.Gly11=)
12	g.52652111C>A	CA384946356	KRT2	c.32G>T (p.Gly11Val)	gnomAD v4
12	g.52652111C>G	CA384946361	KRT2	c.32G>C (p.Gly11Ala)
12	g.52652111C>T	CA384946364	KRT2	c.32G>A (p.Gly11Glu)	gnomAD v4
12	g.52652112del	CA2618946522	KRT2	c.32del (p.Gly11GlufsTer?)	gnomAD v4
12	g.52652112C>A	CA384946370	KRT2	c.31G>T (p.Gly11Ter)	gnomAD v4
12	g.52652112C>G	CA384946368	KRT2	c.31G>C (p.Gly11Arg)
12	g.52652112C>T	CA384946369	KRT2	c.31G>A (p.Gly11Arg)	gnomAD v4
12	g.52652113T>A	CA480073009	KRT2	c.30A>T (p.Arg10=)
12	g.52652113T>C	CA237244803	KRT2	c.30A>G (p.Arg10=)	dbSNP gnomAD v2 gnomAD v4
12	g.52652113T>G	CA480073008	KRT2	c.30A>C (p.Arg10=)
12	g.52652113T=	CA2036598645	KRT2	c.30A= (p.Arg10=)
12	g.52652113_52652114delinsTC	CA2036598644	KRT2	c.29_30delinsGA (p.Arg10=)
12	g.52652114del	CA6585987	KRT2	c.29del (p.Arg10GlnfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652114C>A	CA384946372	KRT2	c.29G>T (p.Arg10Leu)	gnomAD v4
12	g.52652114C=	CA2036598648	KRT2	c.29G= (p.Arg10=)
12	g.52652114C>G	CA384946373	KRT2	c.29G>C (p.Arg10Pro)
12	g.52652114C>T	CA6585988	KRT2	c.29G>A (p.Arg10Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652115G>A	CA237244812	KRT2	c.28C>T (p.Arg10Ter)	dbSNP gnomAD v2 gnomAD v4
12	g.52652115G>C	CA384946398	KRT2	c.28C>G (p.Arg10Gly)
12	g.52652115G=	CA2036598650	KRT2	c.28C= (p.Arg10=)
12	g.52652115G>T	CA480073011	KRT2	c.28C>A (p.Arg10=)	gnomAD v4
12	g.52652116A>C	CA480073012	KRT2	c.27T>G (p.Ser9=)
12	g.52652116A>G	CA480073013	KRT2	c.27T>C (p.Ser9=)
12	g.52652116A>T	CA480073014	KRT2	c.27T>A (p.Ser9=)
12	g.52652117G>A	CA384946410	KRT2	c.26C>T (p.Ser9Phe)
12	g.52652117G>C	CA384946417	KRT2	c.26C>G (p.Ser9Cys)	gnomAD v4
12	g.52652117G>T	CA384946403	KRT2	c.26C>A (p.Ser9Tyr)	gnomAD v4
12	g.52652118A>C	CA384946431	KRT2	c.25T>G (p.Ser9Ala)
12	g.52652118A>G	CA384946420	KRT2	c.25T>C (p.Ser9Pro)	gnomAD v4
12	g.52652118A>T	CA384946428	KRT2	c.25T>A (p.Ser9Thr)
12	g.52652119T>A	CA384946437	KRT2	c.24A>T (p.Lys8Asn)
12	g.52652119T>C	CA480073018	KRT2	c.24A>G (p.Lys8=)	gnomAD v4
12	g.52652119T>G	CA384946438	KRT2	c.24A>C (p.Lys8Asn)
12	g.52652120T>A	CA384946442	KRT2	c.23A>T (p.Lys8Ile)
12	g.52652120T>C	CA384946446	KRT2	c.23A>G (p.Lys8Arg)	gnomAD v4
12	g.52652120T>G	CA384946448	KRT2	c.23A>C (p.Lys8Thr)
12	g.52652121T>A	CA384946455	KRT2	c.22A>T (p.Lys8Ter)	gnomAD v4
12	g.52652121T>C	CA384946460	KRT2	c.22A>G (p.Lys8Glu)
12	g.52652121T>G	CA384946462	KRT2	c.22A>C (p.Lys8Gln)
12	g.52652122G>A	CA480073021	KRT2	c.21C>T (p.Cys7=)
12	g.52652122G>C	CA384946475	KRT2	c.21C>G (p.Cys7Trp)
12	g.52652122G>T	CA384946479	KRT2	c.21C>A (p.Cys7Ter)	gnomAD v4
12	g.52652123C>A	CA384946486	KRT2	c.20G>T (p.Cys7Phe)	gnomAD v4
12	g.52652123C>G	CA384946490	KRT2	c.20G>C (p.Cys7Ser)
12	g.52652123C>T	CA384946484	KRT2	c.20G>A (p.Cys7Tyr)
12	g.52652124A=	CA2036598652	KRT2	c.19T= (p.Cys7=)
12	g.52652124A>C	CA384946495	KRT2	c.19T>G (p.Cys7Gly)
12	g.52652124A>G	CA384946503	KRT2	c.19T>C (p.Cys7Arg)	dbSNP gnomAD v2 gnomAD v4
12	g.52652124A>T	CA384946506	KRT2	c.19T>A (p.Cys7Ser)
12	g.52652125A>C	CA480073024	KRT2	c.18T>G (p.Ser6=)	gnomAD v4
12	g.52652125A>G	CA480073026	KRT2	c.18T>C (p.Ser6=)	gnomAD v4
12	g.52652125A>T	CA480073027	KRT2	c.18T>A (p.Ser6=)
12	g.52652126G>A	CA384946510	KRT2	c.17C>T (p.Ser6Phe)
12	g.52652126G>C	CA384946512	KRT2	c.17C>G (p.Ser6Cys)
12	g.52652126G>T	CA384946530	KRT2	c.17C>A (p.Ser6Tyr)	gnomAD v4
12	g.52652127A>C	CA384946536	KRT2	c.16T>G (p.Ser6Ala)	gnomAD v4
12	g.52652127A>G	CA384946547	KRT2	c.16T>C (p.Ser6Pro)
12	g.52652127A>T	CA384946544	KRT2	c.16T>A (p.Ser6Thr)
12	g.52652128G>A	CA480073029	KRT2	c.15C>T (p.Ile5=)
12	g.52652128G>C	CA384946561	KRT2	c.15C>G (p.Ile5Met)
12	g.52652128G>T	CA480073028	KRT2	c.15C>A (p.Ile5=)	gnomAD v4
12	g.52652129A>C	CA384946567	KRT2	c.14T>G (p.Ile5Ser)
12	g.52652129A>G	CA384946574	KRT2	c.14T>C (p.Ile5Thr)
12	g.52652129A>T	CA384946578	KRT2	c.14T>A (p.Ile5Asn)	dbSNP gnomAD v3 gnomAD v4
12	g.52652130T>A	CA384946592	KRT2	c.13A>T (p.Ile5Phe)
12	g.52652130T>C	CA384946589	KRT2	c.13A>G (p.Ile5Val)
12	g.52652130T>G	CA384946584	KRT2	c.13A>C (p.Ile5Leu)
12	g.52652131C>A	CA384946599	KRT2	c.12G>T (p.Gln4His)
12	g.52652131C>G	CA384946601	KRT2	c.12G>C (p.Gln4His)
12	g.52652131C>T	CA480073031	KRT2	c.12G>A (p.Gln4=)	gnomAD v4
12	g.52652132T>A	CA384946606	KRT2	c.11A>T (p.Gln4Leu)
12	g.52652132T>C	CA384946608	KRT2	c.11A>G (p.Gln4Arg)
12	g.52652132T>G	CA384946609	KRT2	c.11A>C (p.Gln4Pro)
12	g.52652133G>A	CA384946611	KRT2	c.10C>T (p.Gln4Ter)
12	g.52652133G>C	CA384946614	KRT2	c.10C>G (p.Gln4Glu)
12	g.52652133G>T	CA384946620	KRT2	c.10C>A (p.Gln4Lys)
12	g.52652134A=	CA2036598654	KRT2	c.9T= (p.Cys3=)
12	g.52652134A>C	CA384946623	KRT2	c.9T>G (p.Cys3Trp)
12	g.52652134A>G	CA480073035	KRT2	c.9T>C (p.Cys3=)	gnomAD v4
12	g.52652134A>T	CA384946631	KRT2	c.9T>A (p.Cys3Ter)	dbSNP
12	g.52652135C>A	CA384946636	KRT2	c.8G>T (p.Cys3Phe)	gnomAD v4
12	g.52652135C>G	CA384946642	KRT2	c.8G>C (p.Cys3Ser)
12	g.52652135C>T	CA384946646	KRT2	c.8G>A (p.Cys3Tyr)
12	g.52652136A=	CA2036598656	KRT2	c.7T= (p.Cys3=)
12	g.52652136A>C	CA6585989	KRT2	c.7T>G (p.Cys3Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52652136A>G	CA384946661	KRT2	c.7T>C (p.Cys3Arg)
12	g.52652136A>T	CA384946654	KRT2	c.7T>A (p.Cys3Ser)
12	g.52652137A=	CA2036598657	KRT2	c.6T= (p.Ser2=)
12	g.52652137A>C	CA384946670	KRT2	c.6T>G (p.Ser2Arg)	gnomAD v4
12	g.52652137A>G	CA480073036	KRT2	c.6T>C (p.Ser2=)	dbSNP gnomAD v4
12	g.52652137A>T	CA384946692	KRT2	c.6T>A (p.Ser2Arg)
12	g.52652138C>A	CA384946699	KRT2	c.5G>T (p.Ser2Ile)
12	g.52652138C=	CA2036598659	KRT2	c.5G= (p.Ser2=)
12	g.52652138C>G	CA384946705	KRT2	c.5G>C (p.Ser2Thr)	dbSNP gnomAD v2 gnomAD v4
12	g.52652138C>T	CA384946711	KRT2	c.5G>A (p.Ser2Asn)
12	g.52652139T>A	CA384946716	KRT2	c.4A>T (p.Ser2Cys)
12	g.52652139T>C	CA384946714	KRT2	c.4A>G (p.Ser2Gly)
12	g.52652139T>G	CA384946715	KRT2	c.4A>C (p.Ser2Arg)
12	g.52652140C>A	CA384946718	KRT2	c.3G>T (p.Met1Ile)
12	g.52652140C=	CA2036598661	KRT2	c.3G= (p.Met1=)
12	g.52652140C>G	CA384946720	KRT2	c.3G>C (p.Met1Ile)
12	g.52652140C>T	CA237244816	KRT2	c.3G>A (p.Met1Ile)	dbSNP
12	g.52652141A=	CA2036598663	KRT2	c.2T= (p.Met1=)
12	g.52652141A>C	CA384946728	KRT2	c.2T>G (p.Met1Arg)
12	g.52652141A>G	CA384946734	KRT2	c.2T>C (p.Met1Thr)	dbSNP
12	g.52652141A>T	CA384946736	KRT2	c.2T>A (p.Met1Lys)	gnomAD v4
12	g.52652142del	CA605241211	KRT2	c.1del (p.Met1Ter)	dbSNP gnomAD v2 gnomAD v4
12	g.52652142T>A	CA384946748	KRT2	c.1A>T (p.Met1Leu)	gnomAD v4
12	g.52652142T>C	CA384946754	KRT2	c.1A>G (p.Met1Val)	gnomAD v4
12	g.52652142T>G	CA384946741	KRT2	c.1A>C (p.Met1Leu)
12	g.52652142dup	CA605241212	KRT2	c.1dup (p.Met1AsnfsTer?)	dbSNP gnomAD v2 gnomAD v4
12	g.52652143G=	CA2036598666	KRT2	c.-1C= (n.-1C=)
12	g.52652143G>T	CA605241213	KRT2	c.-1C>A (n.-1C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652144A=	CA2036598668	KRT2	c.-2T= (n.-2T=)
12	g.52652144A>T	CA689858056	KRT2	c.-2T>A (n.-2T>A)	dbSNP gnomAD v4
12	g.52652145T>C	CA2618946566	KRT2	c.-3A>G (n.-3A>G)	gnomAD v4
12	g.52652146G>A	CA2618946567	KRT2	c.-4C>T (n.-4C>T)	gnomAD v4
12	g.52652146G>T	CA2618946568	KRT2	c.-4C>A (n.-4C>A)	gnomAD v4
12	g.52652146_52652147delinsGC	CA2036598669	KRT2	c.-5_-4delinsGC (n.-5_-4delinsGC)
12	g.52652147C=	CA2036598671	KRT2	c.-5G= (n.-5G=)
12	g.52652147C>G	CA605241214	KRT2	c.-5G>C (n.-5G>C)	dbSNP gnomAD v2 gnomAD v4
12	g.52652147C>T	CA605241215	KRT2	c.-5G>A (n.-5G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652148del	CA689858059	KRT2	c.-5del (n.-5del)	dbSNP gnomAD v3 gnomAD v4
12	g.52652148C>G	CA2618946569	KRT2	c.-6G>C (n.-6G>C)	gnomAD v4
12	g.52652148C>T	CA2575166892	KRT2	c.-6G>A (n.-6G>A)	gnomAD v4
12	g.52652149T>A	CA2618946570	KRT2	c.-7A>T (n.-7A>T)	gnomAD v4
12	g.52652150T>C	CA2618946571	KRT2	c.-8A>G (n.-8A>G)	gnomAD v4
12	g.52652152G>C	CA6585990	KRT2	c.-10C>G (n.-10C>G)	dbSNP ExAC
12	g.52652152G=	CA2036598672	KRT2	c.-10C= (n.-10C=)
12	g.52652152G>T	CA689858061	KRT2	c.-10C>A (n.-10C>A)	dbSNP gnomAD v3 gnomAD v4
12	g.52652153del	CA2618946572	KRT2	c.-11del (n.-11del)	gnomAD v4
12	g.52652153T>C	CA2618946574	KRT2	c.-11A>G (n.-11A>G)	gnomAD v4
12	g.52652154C=	CA2036598674	KRT2	c.-12G= (n.-12G=)
12	g.52652154C>G	CA2618946575	KRT2	c.-12G>C (n.-12G>C)	gnomAD v4
12	g.52652154C>T	CA6585991	KRT2	c.-12G>A (n.-12G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52652155C>A	CA2618946576	KRT2	c.-13G>T (n.-13G>T)	gnomAD v4
12	g.52652156A=	CA2036598675	KRT2	c.-14T= (n.-14T=)
12	g.52652156A>G	CA605241216	KRT2	c.-14T>C (n.-14T>C)	dbSNP gnomAD v2 gnomAD v4
12	g.52652157G>T	CA2618946579	KRT2	c.-15C>A (n.-15C>A)	gnomAD v4
12	g.52652158G>A	CA605241217	KRT2	c.-16C>T (n.-16C>T)	dbSNP gnomAD v2
12	g.52652158G=	CA2036598677	KRT2	c.-16C= (n.-16C=)
12	g.52652158G>T	CA2618946580	KRT2	c.-16C>A (n.-16C>A)	gnomAD v4
12	g.52652159G>A	CA6585992	KRT2	c.-17C>T (n.-17C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52652159G=	CA2036598678	KRT2	c.-17C= (n.-17C=)
12	g.52652159G>T	CA2575166893	KRT2	c.-17C>A (n.-17C>A)	gnomAD v4
12	g.52652160A=	CA2036598680	KRT2	c.-18T= (n.-18T=)
12	g.52652160A>T	CA2618946585	KRT2	c.-18T>A (n.-18T>A)	gnomAD v4

Number of alleles fetched