Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.52651963A>C	CA384945021	KRT2	c.180T>G (p.Ser60Arg)
12	g.52651963A>G	CA480073156	KRT2	c.180T>C (p.Ser60=)
12	g.52651963A>T	CA384945025	KRT2	c.180T>A (p.Ser60Arg)
12	g.52651964C>A	CA384945029	KRT2	c.179G>T (p.Ser60Ile)
12	g.52651964C=	CA2036598468	KRT2	c.179G= (p.Ser60=)
12	g.52651964C>G	CA384945030	KRT2	c.179G>C (p.Ser60Thr)
12	g.52651964C>T	CA6585942	KRT2	c.179G>A (p.Ser60Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52651965T>A	CA384945033	KRT2	c.178A>T (p.Ser60Cys)	dbSNP gnomAD v3 gnomAD v4
12	g.52651965T>C	CA384945042	KRT2	c.178A>G (p.Ser60Gly)
12	g.52651965T>G	CA384945037	KRT2	c.178A>C (p.Ser60Arg)
12	g.52651965T=	CA2036598470	KRT2	c.178A= (p.Ser60=)
12	g.52651966G>A	CA480073158	KRT2	c.177C>T (p.Gly59=)
12	g.52651966G>C	CA480073161	KRT2	c.177C>G (p.Gly59=)
12	g.52651966G>T	CA480073160	KRT2	c.177C>A (p.Gly59=)
12	g.52651967C>A	CA384945049	KRT2	c.176G>T (p.Gly59Val)	dbSNP gnomAD v2
12	g.52651967C=	CA2036598472	KRT2	c.176G= (p.Gly59=)
12	g.52651967C>G	CA384945052	KRT2	c.176G>C (p.Gly59Ala)
12	g.52651967C>T	CA384945059	KRT2	c.176G>A (p.Gly59Asp)	gnomAD v4
12	g.52651968C>A	CA384945063	KRT2	c.175G>T (p.Gly59Cys)
12	g.52651968C=	CA2036598473	KRT2	c.175G= (p.Gly59=)
12	g.52651968C>G	CA384945067	KRT2	c.175G>C (p.Gly59Arg)
12	g.52651968C>T	CA6585943	KRT2	c.175G>A (p.Gly59Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52651969A>C	CA384945074	KRT2	c.174T>G (p.Phe58Leu)
12	g.52651969A>G	CA480073165	KRT2	c.174T>C (p.Phe58=)
12	g.52651969A>T	CA384945077	KRT2	c.174T>A (p.Phe58Leu)
12	g.52651970A>C	CA384945082	KRT2	c.173T>G (p.Phe58Cys)	gnomAD v4
12	g.52651970A>G	CA384945086	KRT2	c.173T>C (p.Phe58Ser)
12	g.52651970A>T	CA384945091	KRT2	c.173T>A (p.Phe58Tyr)
12	g.52651971A>C	CA384945108	KRT2	c.172T>G (p.Phe58Val)
12	g.52651971A>G	CA384945106	KRT2	c.172T>C (p.Phe58Leu)
12	g.52651971A>T	CA384945099	KRT2	c.172T>A (p.Phe58Ile)
12	g.52651972del	CA2618946389	KRT2	c.171del (p.Phe58LeufsTer?)	gnomAD v4
12	g.52651972G>A	CA480073166	KRT2	c.171C>T (p.Gly57=)	dbSNP
12	g.52651972G>C	CA480073168	KRT2	c.171C>G (p.Gly57=)	dbSNP
12	g.52651972G=	CA2036598475	KRT2	c.171C= (p.Gly57=)
12	g.52651972G>T	CA480073170	KRT2	c.171C>A (p.Gly57=)	COSMIC
12	g.52651975_52651977dup	CA2618946388	KRT2	c.169_171dup (p.Gly57_Phe58insGly)	gnomAD v4
12	g.52651973C>A	CA384945114	KRT2	c.170G>T (p.Gly57Val)
12	g.52651973C=	CA2036598477	KRT2	c.170G= (p.Gly57=)
12	g.52651973C>G	CA384945117	KRT2	c.170G>C (p.Gly57Ala)	dbSNP gnomAD v2 gnomAD v4
12	g.52651973C>T	CA384945118	KRT2	c.170G>A (p.Gly57Asp)	dbSNP gnomAD v3 gnomAD v4
12	g.52651974C>A	CA384945119	KRT2	c.169G>T (p.Gly57Cys)
12	g.52651974C=	CA2036598479	KRT2	c.169G= (p.Gly57=)
12	g.52651974C>G	CA384945120	KRT2	c.169G>C (p.Gly57Arg)
12	g.52651974C>T	CA384945123	KRT2	c.169G>A (p.Gly57Ser)	dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.52651975G>A	CA6585944	KRT2	c.168C>T (p.Gly56=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52651975G>C	CA480073172	KRT2	c.168C>G (p.Gly56=)	dbSNP gnomAD v3 gnomAD v4
12	g.52651975G=	CA1630855678	KRT2	c.168C= (p.Gly56=)
12	g.52651975G>T	CA480073174	KRT2	c.168C>A (p.Gly56=)
12	g.52651976C>A	CA384945130	KRT2	c.167G>T (p.Gly56Val)
12	g.52651976C>G	CA384945133	KRT2	c.167G>C (p.Gly56Ala)
12	g.52651976C>T	CA384945142	KRT2	c.167G>A (p.Gly56Asp)	gnomAD v4
12	g.52651977C>A	CA384945146	KRT2	c.166G>T (p.Gly56Cys)
12	g.52651977C>G	CA384945150	KRT2	c.166G>C (p.Gly56Arg)
12	g.52651977C>T	CA384945162	KRT2	c.166G>A (p.Gly56Ser)
12	g.52651978T>A	CA480073176	KRT2	c.165A>T (p.Gly55=)
12	g.52651978T>C	CA480073177	KRT2	c.165A>G (p.Gly55=)
12	g.52651978T>G	CA480073178	KRT2	c.165A>C (p.Gly55=)
12	g.52651979C>A	CA384945170	KRT2	c.164G>T (p.Gly55Val)
12	g.52651979C>G	CA384945177	KRT2	c.164G>C (p.Gly55Ala)
12	g.52651979C>T	CA384945167	KRT2	c.164G>A (p.Gly55Glu)	COSMIC
12	g.52651980C>A	CA384945179	KRT2	c.163G>T (p.Gly55Ter)
12	g.52651980C>G	CA384945183	KRT2	c.163G>C (p.Gly55Arg)
12	g.52651980C>T	CA384945180	KRT2	c.163G>A (p.Gly55Arg)	gnomAD v4
12	g.52651981A>C	CA480073182	KRT2	c.162T>G (p.Gly54=)
12	g.52651981A>G	CA480073183	KRT2	c.162T>C (p.Gly54=)
12	g.52651981A>T	CA480073184	KRT2	c.162T>A (p.Gly54=)
12	g.52651982C>A	CA384945189	KRT2	c.161G>T (p.Gly54Val)
12	g.52651982C>G	CA384945191	KRT2	c.161G>C (p.Gly54Ala)
12	g.52651982C>T	CA384945193	KRT2	c.161G>A (p.Gly54Asp)
12	g.52651983C>A	CA384945194	KRT2	c.160G>T (p.Gly54Cys)	dbSNP
12	g.52651983C=	CA2036598482	KRT2	c.160G= (p.Gly54=)
12	g.52651983C>G	CA237244560	KRT2	c.160G>C (p.Gly54Arg)	dbSNP gnomAD v3 gnomAD v4
12	g.52651983C>T	CA6585945	KRT2	c.160G>A (p.Gly54Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52651984G>A	CA6585946	KRT2	c.159C>T (p.Phe53=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52651984G>C	CA384945204	KRT2	c.159C>G (p.Phe53Leu)
12	g.52651984G=	CA2036598485	KRT2	c.159C= (p.Phe53=)
12	g.52651984G>T	CA6585947	KRT2	c.159C>A (p.Phe53Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52651985A>C	CA384945206	KRT2	c.158T>G (p.Phe53Cys)
12	g.52651985A>G	CA384945208	KRT2	c.158T>C (p.Phe53Ser)
12	g.52651985A>T	CA384945212	KRT2	c.158T>A (p.Phe53Tyr)
12	g.52651986_52651987insACCACCACCTCCAAA	CA605241230	KRT2	c.158_159insTGGAGGTGGTGGTTT (p.Phe53_Gly54insGlyGlyGlyGlyPhe)	gnomAD v2
12	g.52651986A>C	CA384945218	KRT2	c.157T>G (p.Phe53Val)
12	g.52651986A>G	CA384945216	KRT2	c.157T>C (p.Phe53Leu)	gnomAD v4
12	g.52651986A>T	CA384945217	KRT2	c.157T>A (p.Phe53Ile)
12	g.52651987G>A	CA6585948	KRT2	c.156C>T (p.Gly52=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52651987G>C	CA480073189	KRT2	c.156C>G (p.Gly52=)
12	g.52651987G=	CA2036598487	KRT2	c.156C= (p.Gly52=)
12	g.52651987G>T	CA480073190	KRT2	c.156C>A (p.Gly52=)	gnomAD v4
12	g.52651988C>A	CA384945221	KRT2	c.155G>T (p.Gly52Val)
12	g.52651988C=	CA2036598491	KRT2	c.155G= (p.Gly52=)
12	g.52651988C>G	CA384945224	KRT2	c.155G>C (p.Gly52Ala)	gnomAD v4
12	g.52651988C>T	CA6585949	KRT2	c.155G>A (p.Gly52Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52651992dup	CA605241231	KRT2	c.155dup (p.Phe53LeufsTer23)	dbSNP gnomAD v2 gnomAD v4
12	g.52651992del	CA2618946390	KRT2	c.155del (p.Gly52AlafsTer?)	gnomAD v4
12	g.52651989C>A	CA384945229	KRT2	c.154G>T (p.Gly52Cys)
12	g.52651989C>G	CA384945230	KRT2	c.154G>C (p.Gly52Arg)
12	g.52651989C>T	CA384945231	KRT2	c.154G>A (p.Gly52Ser)
12	g.52651990C>A	CA480073191	KRT2	c.153G>T (p.Gly51=)	gnomAD v4
12	g.52651990C>G	CA480073192	KRT2	c.153G>C (p.Gly51=)	gnomAD v4
12	g.52651990C>T	CA480073193	KRT2	c.153G>A (p.Gly51=)
12	g.52651990_52651993delinsCCCG	CA2036598493	KRT2	c.150_153delinsCGGG (p.Gly50=)
12	g.52651990_52651999delinsCCCGCCACCA	CA2036598494	KRT2	c.144_153delinsTGGTGGCGGG (p.Gly48=)
12	g.52651991C>A	CA384945233	KRT2	c.152G>T (p.Gly51Val)
12	g.52651991C=	CA2036598496	KRT2	c.152G= (p.Gly51=)
12	g.52651991C>G	CA384945236	KRT2	c.152G>C (p.Gly51Ala)
12	g.52651991C>T	CA384945238	KRT2	c.152G>A (p.Gly51Glu)	dbSNP gnomAD v2 gnomAD v4
12	g.52651992_52651993insACC	CA2618946391	KRT2	c.152_153insTGG (p.Gly51_Gly52insGly)	gnomAD v4
12	g.52651993_52651995dup	CA2036598497	KRT2	c.150_152dup (p.Gly51_Gly52insGly)	dbSNP gnomAD v4
12	g.52651993_52651995del	CA6585950	KRT2	c.150_152del (p.Gly51del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52651993_52652001del	CA689873384	KRT2	c.144_152del (p.Gly49_Gly51del)	dbSNP gnomAD v3 gnomAD v4
12	g.52651992C>A	CA384945245	KRT2	c.151G>T (p.Gly51Trp)
12	g.52651992C=	CA2036598500	KRT2	c.151G= (p.Gly51=)
12	g.52651992C>G	CA384945241	KRT2	c.151G>C (p.Gly51Arg)
12	g.52651992C>T	CA237244565	KRT2	c.151G>A (p.Gly51Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52651993G>A	CA6585951	KRT2	c.150C>T (p.Gly50=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52651993G>C	CA6585952	KRT2	c.150C>G (p.Gly50=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52651993G=	CA1630855679	KRT2	c.150C= (p.Gly50=)
12	g.52651993G>T	CA480073195	KRT2	c.150C>A (p.Gly50=)	dbSNP gnomAD v4
12	g.52651994C>A	CA384945251	KRT2	c.149G>T (p.Gly50Val)	gnomAD v4
12	g.52651994C=	CA2036598505	KRT2	c.149G= (p.Gly50=)
12	g.52651994C>G	CA384945253	KRT2	c.149G>C (p.Gly50Ala)	gnomAD v4
12	g.52651994C>T	CA384945256	KRT2	c.149G>A (p.Gly50Asp)	dbSNP gnomAD v2 gnomAD v4
12	g.52652003_52652005dup	CA6585953	KRT2	c.147_149dup (p.Gly50_Gly51insGly)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52651995C>A	CA384945270	KRT2	c.148G>T (p.Gly50Cys)
12	g.52651995C=	CA2036598507	KRT2	c.148G= (p.Gly50=)
12	g.52651995C>G	CA384945260	KRT2	c.148G>C (p.Gly50Arg)
12	g.52651995C>T	CA6585954	KRT2	c.148G>A (p.Gly50Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52651996A>C	CA480073197	KRT2	c.147T>G (p.Gly49=)
12	g.52651996A>G	CA480073198	KRT2	c.147T>C (p.Gly49=)	gnomAD v4
12	g.52651996A>T	CA480073199	KRT2	c.147T>A (p.Gly49=)
12	g.52651997C>A	CA384945277	KRT2	c.146G>T (p.Gly49Val)
12	g.52651997C=	CA2036598508	KRT2	c.146G= (p.Gly49=)
12	g.52651997C>G	CA384945279	KRT2	c.146G>C (p.Gly49Ala)
12	g.52651997C>T	CA6585955	KRT2	c.146G>A (p.Gly49Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52651997_52651998insTGAAGCCGCTGC	CA2618946396	KRT2	c.146_147insCAGCGGCTTCAG (p.Gly49_Gly50insSerGlyPheSer)	gnomAD v4
12	g.52651998C>A	CA384945284	KRT2	c.145G>T (p.Gly49Cys)	gnomAD v4
12	g.52651998C=	CA2036598510	KRT2	c.145G= (p.Gly49=)
12	g.52651998C>G	CA384945288	KRT2	c.145G>C (p.Gly49Arg)
12	g.52651998C>T	CA6585956	KRT2	c.145G>A (p.Gly49Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52651999A>C	CA480073203	KRT2	c.144T>G (p.Gly48=)
12	g.52651999A>G	CA480073204	KRT2	c.144T>C (p.Gly48=)
12	g.52651999A>T	CA480073206	KRT2	c.144T>A (p.Gly48=)
12	g.52652000C>A	CA384945301	KRT2	c.143G>T (p.Gly48Val)	dbSNP
12	g.52652000C=	CA2036598513	KRT2	c.143G= (p.Gly48=)
12	g.52652000C>G	CA384945317	KRT2	c.143G>C (p.Gly48Ala)
12	g.52652000C>T	CA384945308	KRT2	c.143G>A (p.Gly48Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652001C>A	CA384945320	KRT2	c.142G>T (p.Gly48Cys)	gnomAD v4
12	g.52652001C>G	CA384945321	KRT2	c.142G>C (p.Gly48Arg)
12	g.52652001C>T	CA384945322	KRT2	c.142G>A (p.Gly48Ser)
12	g.52652002A>C	CA480073209	KRT2	c.141T>G (p.Gly47=)
12	g.52652002A>G	CA480073211	KRT2	c.141T>C (p.Gly47=)
12	g.52652002A>T	CA480073210	KRT2	c.141T>A (p.Gly47=)	gnomAD v4
12	g.52652003C>A	CA384945323	KRT2	c.140G>T (p.Gly47Val)
12	g.52652003C=	CA2036598515	KRT2	c.140G= (p.Gly47=)
12	g.52652003C>G	CA384945325	KRT2	c.140G>C (p.Gly47Ala)	gnomAD v4
12	g.52652003C>T	CA6585957	KRT2	c.140G>A (p.Gly47Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652003_52652004insAA	CA2796002846	KRT2	c.139_140insTT (p.Gly47ValfsTer?)
12	g.52652004C>A	CA384945330	KRT2	c.139G>T (p.Gly47Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652004C=	CA2036598516	KRT2	c.139G= (p.Gly47=)
12	g.52652004C>G	CA384945333	KRT2	c.139G>C (p.Gly47Arg)
12	g.52652004C>T	CA384945335	KRT2	c.139G>A (p.Gly47Ser)	gnomAD v4
12	g.52652005A>C	CA384945341	KRT2	c.138T>G (p.His46Gln)
12	g.52652005A>G	CA480073214	KRT2	c.138T>C (p.His46=)
12	g.52652005A>T	CA384945355	KRT2	c.138T>A (p.His46Gln)
12	g.52652006T>A	CA384945359	KRT2	c.137A>T (p.His46Leu)
12	g.52652006T>C	CA6585958	KRT2	c.137A>G (p.His46Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52652006T>G	CA384945358	KRT2	c.137A>C (p.His46Pro)
12	g.52652006T=	CA2036598519	KRT2	c.137A= (p.His46=)
12	g.52652007G>A	CA384945367	KRT2	c.136C>T (p.His46Tyr)	dbSNP gnomAD v2 gnomAD v4
12	g.52652007G>C	CA384945381	KRT2	c.136C>G (p.His46Asp)
12	g.52652007G=	CA2036598522	KRT2	c.136C= (p.His46=)
12	g.52652007G>T	CA384945389	KRT2	c.136C>A (p.His46Asn)	gnomAD v4
12	g.52652008G>A	CA6585959	KRT2	c.135C>T (p.Arg45=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52652008G>C	CA480073218	KRT2	c.135C>G (p.Arg45=)
12	g.52652008G=	CA2036598523	KRT2	c.135C= (p.Arg45=)
12	g.52652008G>T	CA480073219	KRT2	c.135C>A (p.Arg45=)
12	g.52652009C>A	CA384945398	KRT2	c.134G>T (p.Arg45Leu)	dbSNP gnomAD v2 gnomAD v4
12	g.52652009C=	CA2036598524	KRT2	c.134G= (p.Arg45=)
12	g.52652009C>G	CA384945400	KRT2	c.134G>C (p.Arg45Pro)
12	g.52652009C>T	CA6585960	KRT2	c.134G>A (p.Arg45His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652010G>A	CA6585961	KRT2	c.133C>T (p.Arg45Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652010G>C	CA384945405	KRT2	c.133C>G (p.Arg45Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652010G=	CA2036598525	KRT2	c.133C= (p.Arg45=)
12	g.52652010G>T	CA384945408	KRT2	c.133C>A (p.Arg45Ser)	dbSNP gnomAD v4
12	g.52652011G>A	CA237244593	KRT2	c.132C>T (p.Ser44=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652011G>C	CA384945412	KRT2	c.132C>G (p.Ser44Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652011G=	CA2036598528	KRT2	c.132C= (p.Ser44=)
12	g.52652011G>T	CA384945413	KRT2	c.132C>A (p.Ser44Arg)	dbSNP gnomAD v2 gnomAD v4
12	g.52652012C>A	CA384945419	KRT2	c.131G>T (p.Ser44Ile)	gnomAD v4
12	g.52652012C=	CA2036598531	KRT2	c.131G= (p.Ser44=)
12	g.52652012C>G	CA384945417	KRT2	c.131G>C (p.Ser44Thr)
12	g.52652012C>T	CA384945414	KRT2	c.131G>A (p.Ser44Asn)	dbSNP gnomAD v2
12	g.52652013T>A	CA384945423	KRT2	c.130A>T (p.Ser44Cys)
12	g.52652013T>C	CA384945424	KRT2	c.130A>G (p.Ser44Gly)
12	g.52652013T>G	CA384945426	KRT2	c.130A>C (p.Ser44Arg)
12	g.52652014C>A	CA384945429	KRT2	c.129G>T (p.Leu43Phe)	gnomAD v4
12	g.52652014C=	CA2036598532	KRT2	c.129G= (p.Leu43=)
12	g.52652014C>G	CA384945432	KRT2	c.129G>C (p.Leu43Phe)	gnomAD v4
12	g.52652014C>T	CA6585962	KRT2	c.129G>A (p.Leu43=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652015A>C	CA384945433	KRT2	c.128T>G (p.Leu43Trp)	gnomAD v4
12	g.52652015A>G	CA384945435	KRT2	c.128T>C (p.Leu43Ser)
12	g.52652015A>T	CA384945440	KRT2	c.128T>A (p.Leu43Ter)
12	g.52652016A>C	CA384945442	KRT2	c.127T>G (p.Leu43Val)
12	g.52652016A>G	CA480072827	KRT2	c.127T>C (p.Leu43=)
12	g.52652016A>T	CA384945445	KRT2	c.127T>A (p.Leu43Met)
12	g.52652017G>A	CA480072829	KRT2	c.126C>T (p.Cys42=)	gnomAD v4
12	g.52652017G>C	CA384945447	KRT2	c.126C>G (p.Cys42Trp)
12	g.52652017G>T	CA384945452	KRT2	c.126C>A (p.Cys42Ter)
12	g.52652018C>A	CA384945463	KRT2	c.125G>T (p.Cys42Phe)	gnomAD v4
12	g.52652018C>G	CA384945470	KRT2	c.125G>C (p.Cys42Ser)
12	g.52652018C>T	CA384945455	KRT2	c.125G>A (p.Cys42Tyr)	COSMIC
12	g.52652018_52652021delinsCAGG	CA2036598534	KRT2	c.122_125delinsCCTG (p.Ser41=)
12	g.52652019A>C	CA384945475	KRT2	c.124T>G (p.Cys42Gly)
12	g.52652019A>G	CA384945487	KRT2	c.124T>C (p.Cys42Arg)
12	g.52652019A>T	CA384945491	KRT2	c.124T>A (p.Cys42Ser)
12	g.52652021_52652023del	CA6585963	KRT2	c.122_124del (p.Ser41del)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52652020G>A	CA480072832	KRT2	c.123C>T (p.Ser41=)	dbSNP gnomAD v3 gnomAD v4
12	g.52652020G>C	CA480072833	KRT2	c.123C>G (p.Ser41=)	dbSNP COSMIC
12	g.52652020G=	CA2036598536	KRT2	c.123C= (p.Ser41=)
12	g.52652020G>T	CA480072834	KRT2	c.123C>A (p.Ser41=)
12	g.52652021G>A	CA384945492	KRT2	c.122C>T (p.Ser41Phe)	dbSNP gnomAD v3 gnomAD v4
12	g.52652021G>C	CA384945495	KRT2	c.122C>G (p.Ser41Cys)	gnomAD v4
12	g.52652021G=	CA2036598538	KRT2	c.122C= (p.Ser41=)
12	g.52652021G>T	CA384945498	KRT2	c.122C>A (p.Ser41Tyr)
12	g.52652022A=	CA2036598541	KRT2	c.121T= (p.Ser41=)
12	g.52652022A>C	CA384945501	KRT2	c.121T>G (p.Ser41Ala)
12	g.52652022A>G	CA6585964	KRT2	c.121T>C (p.Ser41Pro)	dbSNP ExAC gnomAD v2
12	g.52652022A>T	CA384945504	KRT2	c.121T>A (p.Ser41Thr)
12	g.52652023G>A	CA480072838	KRT2	c.120C>T (p.Phe40=)
12	g.52652023G>C	CA384945506	KRT2	c.120C>G (p.Phe40Leu)
12	g.52652023G>T	CA384945509	KRT2	c.120C>A (p.Phe40Leu)
12	g.52652024A>C	CA384945529	KRT2	c.119T>G (p.Phe40Cys)
12	g.52652024A>G	CA384945513	KRT2	c.119T>C (p.Phe40Ser)
12	g.52652024A>T	CA384945514	KRT2	c.119T>A (p.Phe40Tyr)
12	g.52652025A>C	CA384945540	KRT2	c.118T>G (p.Phe40Val)
12	g.52652025A>G	CA384945542	KRT2	c.118T>C (p.Phe40Leu)
12	g.52652025A>T	CA384945544	KRT2	c.118T>A (p.Phe40Ile)
12	g.52652026G>A	CA480072839	KRT2	c.117C>T (p.Ser39=)	dbSNP gnomAD v2 gnomAD v4
12	g.52652026G>C	CA384945548	KRT2	c.117C>G (p.Ser39Arg)
12	g.52652026G=	CA2036598543	KRT2	c.117C= (p.Ser39=)
12	g.52652026G>T	CA384945550	KRT2	c.117C>A (p.Ser39Arg)	gnomAD v4
12	g.52652027C>A	CA384945551	KRT2	c.116G>T (p.Ser39Ile)
12	g.52652027C=	CA2036598545	KRT2	c.116G= (p.Ser39=)
12	g.52652027C>G	CA384945552	KRT2	c.116G>C (p.Ser39Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652027C>T	CA237244610	KRT2	c.116G>A (p.Ser39Asn)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652028T>A	CA384945555	KRT2	c.115A>T (p.Ser39Cys)
12	g.52652028T>C	CA384945558	KRT2	c.115A>G (p.Ser39Gly)	gnomAD v4
12	g.52652028T>G	CA384945562	KRT2	c.115A>C (p.Ser39Arg)
12	g.52652029G>A	CA480072841	KRT2	c.114C>T (p.Ser38=)	gnomAD v4
12	g.52652029G>C	CA480072842	KRT2	c.114C>G (p.Ser38=)
12	g.52652029G>T	CA480072843	KRT2	c.114C>A (p.Ser38=)	gnomAD v4
12	g.52652030G>A	CA384945578	KRT2	c.113C>T (p.Ser38Phe)
12	g.52652030G>C	CA384945573	KRT2	c.113C>G (p.Ser38Cys)	gnomAD v4
12	g.52652030G>T	CA384945566	KRT2	c.113C>A (p.Ser38Tyr)
12	g.52652031A=	CA2036598547	KRT2	c.112T= (p.Ser38=)
12	g.52652031A>C	CA384945581	KRT2	c.112T>G (p.Ser38Ala)
12	g.52652031A>G	CA384945591	KRT2	c.112T>C (p.Ser38Pro)	dbSNP
12	g.52652031A>T	CA384945588	KRT2	c.112T>A (p.Ser38Thr)
12	g.52652032A=	CA2036598550	KRT2	c.111T= (p.Thr37=)
12	g.52652032A>C	CA480072846	KRT2	c.111T>G (p.Thr37=)
12	g.52652032A>G	CA480072849	KRT2	c.111T>C (p.Thr37=)
12	g.52652032A>T	CA480072848	KRT2	c.111T>A (p.Thr37=)	dbSNP gnomAD v4
12	g.52652033G>A	CA384945602	KRT2	c.110C>T (p.Thr37Ile)	dbSNP
12	g.52652033G>C	CA384945603	KRT2	c.110C>G (p.Thr37Ser)
12	g.52652033G=	CA2036598551	KRT2	c.110C= (p.Thr37=)
12	g.52652033G>T	CA384945605	KRT2	c.110C>A (p.Thr37Asn)
12	g.52652034T>A	CA384945611	KRT2	c.109A>T (p.Thr37Ser)
12	g.52652034T>C	CA6585965	KRT2	c.109A>G (p.Thr37Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652034T>G	CA6585966	KRT2	c.109A>C (p.Thr37Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52652034T=	CA2036598554	KRT2	c.109A= (p.Thr37=)
12	g.52652035T>A	CA480072850	KRT2	c.108A>T (p.Ser36=)
12	g.52652035T>C	CA480072851	KRT2	c.108A>G (p.Ser36=)
12	g.52652035T>G	CA480072853	KRT2	c.108A>C (p.Ser36=)
12	g.52652036G>A	CA384945623	KRT2	c.107C>T (p.Ser36Leu)
12	g.52652036G>C	CA384945616	KRT2	c.107C>G (p.Ser36Ter)
12	g.52652036G>T	CA384945620	KRT2	c.107C>A (p.Ser36Ter)	COSMIC
12	g.52652037A>C	CA384945627	KRT2	c.106T>G (p.Ser36Ala)
12	g.52652037A>G	CA384945629	KRT2	c.106T>C (p.Ser36Pro)
12	g.52652037A>T	CA384945632	KRT2	c.106T>A (p.Ser36Thr)
12	g.52652038T>A	CA384945648	KRT2	c.105A>T (p.Arg35Ser)
12	g.52652038T>C	CA480072854	KRT2	c.105A>G (p.Arg35=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652038T>G	CA384945655	KRT2	c.105A>C (p.Arg35Ser)
12	g.52652038T=	CA2036598555	KRT2	c.105A= (p.Arg35=)
12	g.52652038_52652041delinsTCTC	CA2036598557	KRT2	c.102_105delinsGAGA (p.Arg34=)
12	g.52652039C>A	CA384945666	KRT2	c.104G>T (p.Arg35Ile)	gnomAD v4
12	g.52652039C>G	CA384945661	KRT2	c.104G>C (p.Arg35Thr)
12	g.52652039C>T	CA384945664	KRT2	c.104G>A (p.Arg35Lys)
12	g.52652040_52652042del	CA2036598559	KRT2	c.102_104del (p.Arg35del)	dbSNP
12	g.52652040T>A	CA384945669	KRT2	c.103A>T (p.Arg35Ter)
12	g.52652040T>C	CA6585967	KRT2	c.103A>G (p.Arg35Gly)	dbSNP ExAC gnomAD v4
12	g.52652040T>G	CA480072858	KRT2	c.103A>C (p.Arg35=)
12	g.52652040T=	CA2036598560	KRT2	c.103A= (p.Arg35=)
12	g.52652041C>A	CA480072859	KRT2	c.102G>T (p.Arg34=)	gnomAD v4
12	g.52652041C>G	CA480072861	KRT2	c.102G>C (p.Arg34=)	COSMIC
12	g.52652041C>T	CA480072863	KRT2	c.102G>A (p.Arg34=)
12	g.52652042C>A	CA384945678	KRT2	c.101G>T (p.Arg34Leu)
12	g.52652042C=	CA2036598561	KRT2	c.101G= (p.Arg34=)
12	g.52652042C>G	CA384945688	KRT2	c.101G>C (p.Arg34Pro)
12	g.52652042C>T	CA6585968	KRT2	c.101G>A (p.Arg34Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.52652043G>A	CA6585969	KRT2	c.100C>T (p.Arg34Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652043G>C	CA384945697	KRT2	c.100C>G (p.Arg34Gly)	dbSNP
12	g.52652043G=	CA2036598563	KRT2	c.100C= (p.Arg34=)
12	g.52652043G>T	CA480072867	KRT2	c.100C>A (p.Arg34=)	dbSNP
12	g.52652044G>A	CA480072868	KRT2	c.99C>T (p.Ser33=)
12	g.52652044G>C	CA384945700	KRT2	c.99C>G (p.Ser33Arg)
12	g.52652044G>T	CA384945701	KRT2	c.99C>A (p.Ser33Arg)
12	g.52652045C>A	CA6585970	KRT2	c.98G>T (p.Ser33Ile)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652045C=	CA2036598566	KRT2	c.98G= (p.Ser33=)
12	g.52652045C>G	CA384945704	KRT2	c.98G>C (p.Ser33Thr)
12	g.52652045C>T	CA384945708	KRT2	c.98G>A (p.Ser33Asn)	dbSNP
12	g.52652046T>A	CA384945724	KRT2	c.97A>T (p.Ser33Cys)
12	g.52652046T>C	CA384945713	KRT2	c.97A>G (p.Ser33Gly)
12	g.52652046T>G	CA384945722	KRT2	c.97A>C (p.Ser33Arg)
12	g.52652047T>A	CA480072876	KRT2	c.96A>T (p.Gly32=)
12	g.52652047T>C	CA480072877	KRT2	c.96A>G (p.Gly32=)	dbSNP gnomAD v4
12	g.52652047T>G	CA480072878	KRT2	c.96A>C (p.Gly32=)
12	g.52652047T=	CA2036598568	KRT2	c.96A= (p.Gly32=)
12	g.52652048C>A	CA384945726	KRT2	c.95G>T (p.Gly32Val)
12	g.52652048C=	CA2036598570	KRT2	c.95G= (p.Gly32=)
12	g.52652048C>G	CA6585971	KRT2	c.95G>C (p.Gly32Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52652048C>T	CA384945744	KRT2	c.95G>A (p.Gly32Glu)
12	g.52652049C>A	CA384945749	KRT2	c.94G>T (p.Gly32Ter)
12	g.52652049C>G	CA384945751	KRT2	c.94G>C (p.Gly32Arg)
12	g.52652049C>T	CA384945753	KRT2	c.94G>A (p.Gly32Arg)
12	g.52652050A=	CA2036598572	KRT2	c.93T= (p.Gly31=)
12	g.52652050A>C	CA480072885	KRT2	c.93T>G (p.Gly31=)	dbSNP
12	g.52652050A>G	CA480072886	KRT2	c.93T>C (p.Gly31=)
12	g.52652050A>T	CA480072887	KRT2	c.93T>A (p.Gly31=)
12	g.52652051C>A	CA384945764	KRT2	c.92G>T (p.Gly31Val)
12	g.52652051C=	CA2036598573	KRT2	c.92G= (p.Gly31=)
12	g.52652051C>G	CA384945772	KRT2	c.92G>C (p.Gly31Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52652051C>T	CA384945780	KRT2	c.92G>A (p.Gly31Asp)	dbSNP gnomAD v3 gnomAD v4
12	g.52652052C>A	CA384945785	KRT2	c.91G>T (p.Gly31Cys)	dbSNP
12	g.52652052C=	CA2036598575	KRT2	c.91G= (p.Gly31=)
12	g.52652052C>G	CA384945786	KRT2	c.91G>C (p.Gly31Arg)
12	g.52652052C>T	CA384945789	KRT2	c.91G>A (p.Gly31Ser)
12	g.52652053A>C	CA480072893	KRT2	c.90T>G (p.Ser30=)
12	g.52652053A>G	CA480072894	KRT2	c.90T>C (p.Ser30=)
12	g.52652053A>T	CA480072896	KRT2	c.90T>A (p.Ser30=)
12	g.52652054G>A	CA384945801	KRT2	c.89C>T (p.Ser30Phe)
12	g.52652054G>C	CA384945798	KRT2	c.89C>G (p.Ser30Cys)
12	g.52652054G>T	CA384945793	KRT2	c.89C>A (p.Ser30Tyr)
12	g.52652055A=	CA2036598577	KRT2	c.88T= (p.Ser30=)
12	g.52652055A>C	CA384945809	KRT2	c.88T>G (p.Ser30Ala)
12	g.52652055A>G	CA384945831	KRT2	c.88T>C (p.Ser30Pro)
12	g.52652055A>T	CA384945840	KRT2	c.88T>A (p.Ser30Thr)	dbSNP gnomAD v4
12	g.52652056C>A	CA480072904	KRT2	c.87G>T (p.Val29=)	COSMIC
12	g.52652056C>G	CA480072905	KRT2	c.87G>C (p.Val29=)
12	g.52652056C>T	CA480072906	KRT2	c.87G>A (p.Val29=)
12	g.52652057A>C	CA384945843	KRT2	c.86T>G (p.Val29Gly)
12	g.52652057A>G	CA384945844	KRT2	c.86T>C (p.Val29Ala)
12	g.52652057A>T	CA384945845	KRT2	c.86T>A (p.Val29Glu)
12	g.52652058C>A	CA384945846	KRT2	c.85G>T (p.Val29Leu)	gnomAD v4
12	g.52652058C=	CA2036598580	KRT2	c.85G= (p.Val29=)
12	g.52652058C>G	CA6585972	KRT2	c.85G>C (p.Val29Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52652058C>T	CA384945850	KRT2	c.85G>A (p.Val29Met)	gnomAD v4
12	g.52652059C>A	CA6585973	KRT2	c.84G>T (p.Val28=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52652059C=	CA2036598582	KRT2	c.84G= (p.Val28=)
12	g.52652059C>G	CA480072910	KRT2	c.84G>C (p.Val28=)
12	g.52652059C>T	CA480072911	KRT2	c.84G>A (p.Val28=)	gnomAD v4
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)

Number of alleles fetched