Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.52433724T>C	CA2575164773	KRT75	c.498+83A>G (n.498+83A>G)	gnomAD v4
12	g.52433724T>G	CA2618923472	KRT75	c.498+83A>C (n.498+83A>C)	gnomAD v4
12	g.52433726A=	CA2036511365	KRT75	c.498+81T= (n.498+81T=)
12	g.52433726A>G	CA605240274	KRT75	c.498+81T>C (n.498+81T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52433727T>C	CA2036511368	KRT75	c.498+80A>G (n.498+80A>G)	dbSNP
12	g.52433727T=	CA2036511367	KRT75	c.498+80A= (n.498+80A=)
12	g.52433728T>C	CA2842924728	KRT75	c.498+79A>G (n.498+79A>G)
12	g.52433729G>A	CA689825681	KRT75	c.498+78C>T (n.498+78C>T)	dbSNP gnomAD v3 gnomAD v4
12	g.52433729G=	CA2036511370	KRT75	c.498+78C= (n.498+78C=)
12	g.52433729G>T	CA2618923473	KRT75	c.498+78C>A (n.498+78C>A)	gnomAD v4
12	g.52433730C>A	CA2618923475	KRT75	c.498+77G>T (n.498+77G>T)	gnomAD v4
12	g.52433730C>T	CA2618923474	KRT75	c.498+77G>A (n.498+77G>A)	gnomAD v4
12	g.52433732C=	CA2036511371	KRT75	c.498+75G= (n.498+75G=)
12	g.52433732C>G	CA2036511373	KRT75	c.498+75G>C (n.498+75G>C)	dbSNP gnomAD v4
12	g.52433732C>T	CA2575164774	KRT75	c.498+75G>A (n.498+75G>A)
12	g.52433733del	CA2618923476	KRT75	c.498+74del (n.498+74del)	gnomAD v4
12	g.52433733T=	CA2036511374	KRT75	c.498+74A= (n.498+74A=)
12	g.52433734C=	CA2036511378	KRT75	c.498+73G= (n.498+73G=)
12	g.52433734C>T	CA947694147	KRT75	c.498+73G>A (n.498+73G>A)	dbSNP
12	g.52433739dup	CA2036511376	KRT75	c.498+73dup (n.498+73dup)	dbSNP gnomAD v4
12	g.52433739del	CA2575164775	KRT75	c.498+73del (n.498+73del)	gnomAD v4
12	g.52433735C>A	CA2618923477	KRT75	c.498+72G>T (n.498+72G>T)	gnomAD v4
12	g.52433735C>T	CA2618923478	KRT75	c.498+72G>A (n.498+72G>A)	gnomAD v4
12	g.52433736C>A	CA2842924729	KRT75	c.498+71G>T (n.498+71G>T)
12	g.52433736C=	CA2036511380	KRT75	c.498+71G= (n.498+71G=)
12	g.52433736C>T	CA2036511381	KRT75	c.498+71G>A (n.498+71G>A)	dbSNP
12	g.52433737C>A	CA605240275	KRT75	c.498+70G>T (n.498+70G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52433737C=	CA2036511385	KRT75	c.498+70G= (n.498+70G=)
12	g.52433737C>G	CA237223679	KRT75	c.498+70G>C (n.498+70G>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52433737C>T	CA689825708	KRT75	c.498+70G>A (n.498+70G>A)	dbSNP gnomAD v3 gnomAD v4
12	g.52433738C>A	CA2618923479	KRT75	c.498+69G>T (n.498+69G>T)	gnomAD v4
12	g.52433738C=	CA2036511388	KRT75	c.498+69G= (n.498+69G=)
12	g.52433738C>G	CA237223685	KRT75	c.498+69G>C (n.498+69G>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52433738C>T	CA2036511389	KRT75	c.498+69G>A (n.498+69G>A)	dbSNP gnomAD v4
12	g.52433739C>A	CA237223690	KRT75	c.498+68G>T (n.498+68G>T)	dbSNP gnomAD v3 gnomAD v4
12	g.52433739C=	CA2036511391	KRT75	c.498+68G= (n.498+68G=)
12	g.52433739C>G	CA2618923480	KRT75	c.498+68G>C (n.498+68G>C)	gnomAD v4
12	g.52433739C>T	CA2036511393	KRT75	c.498+68G>A (n.498+68G>A)	dbSNP gnomAD v4
12	g.52433740A=	CA2036511397	KRT75	c.498+67T= (n.498+67T=)
12	g.52433740A>C	CA2838300598	KRT75	c.498+67T>G (n.498+67T>G)
12	g.52433740A>G	CA2036511395	KRT75	c.498+67T>C (n.498+67T>C)	dbSNP gnomAD v4
12	g.52433741T>C	CA237223695	KRT75	c.498+66A>G (n.498+66A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52433741T=	CA2036511400	KRT75	c.498+66A= (n.498+66A=)
12	g.52433742G>A	CA947694159	KRT75	c.498+65C>T (n.498+65C>T)	dbSNP gnomAD v3 gnomAD v4
12	g.52433742G=	CA2036511401	KRT75	c.498+65C= (n.498+65C=)
12	g.52433742G>T	CA2842924730	KRT75	c.498+65C>A (n.498+65C>A)
12	g.52433743G>A	CA947694160	KRT75	c.498+64C>T (n.498+64C>T)	dbSNP gnomAD v3 gnomAD v4
12	g.52433743G=	CA2036511403	KRT75	c.498+64C= (n.498+64C=)
12	g.52433743G>T	CA2618923481	KRT75	c.498+64C>A (n.498+64C>A)	gnomAD v4
12	g.52433744G>A	CA2575164776	KRT75	c.498+63C>T (n.498+63C>T)
12	g.52433744G>T	CA2618923482	KRT75	c.498+63C>A (n.498+63C>A)	dbSNP gnomAD v4
12	g.52433745A=	CA2036511404	KRT75	c.498+62T= (n.498+62T=)
12	g.52433745A>G	CA237223698	KRT75	c.498+62T>C (n.498+62T>C)	dbSNP gnomAD v4
12	g.52433745A>T	CA2618923483	KRT75	c.498+62T>A (n.498+62T>A)	gnomAD v4
12	g.52433746T>A	CA689825731	KRT75	c.498+61A>T (n.498+61A>T)	dbSNP gnomAD v4
12	g.52433746T>C	CA2575164777	KRT75	c.498+61A>G (n.498+61A>G)
12	g.52433746T=	CA2036511407	KRT75	c.498+61A= (n.498+61A=)
12	g.52433746dup	CA2839451775	KRT75	c.498+61dup (n.498+61dup)
12	g.52433747G>T	CA2618923484	KRT75	c.498+60C>A (n.498+60C>A)	gnomAD v4
12	g.52433748G>A	CA2838300600	KRT75	c.498+59C>T (n.498+59C>T)
12	g.52433748G>C	CA2618923485	KRT75	c.498+59C>G (n.498+59C>G)	gnomAD v4
12	g.52433748G>T	CA2618923486	KRT75	c.498+59C>A (n.498+59C>A)	gnomAD v4
12	g.52433749C>A	CA2618923487	KRT75	c.498+58G>T (n.498+58G>T)	gnomAD v4
12	g.52433750C>A	CA2036511410	KRT75	c.498+57G>T (n.498+57G>T)	dbSNP
12	g.52433750C=	CA2036511411	KRT75	c.498+57G= (n.498+57G=)
12	g.52433750C>G	CA2036511409	KRT75	c.498+57G>C (n.498+57G>C)	dbSNP
12	g.52433750C>T	CA13687729	KRT75	c.498+57G>A (n.498+57G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52433752T>C	CA2618923488	KRT75	c.498+55A>G (n.498+55A>G)	gnomAD v4
12	g.52433755C>G	CA2795998149	KRT75	c.498+52G>C (n.498+52G>C)
12	g.52433756A=	CA2036511413	KRT75	c.498+51T= (n.498+51T=)
12	g.52433756A>G	CA2036511414	KRT75	c.498+51T>C (n.498+51T>C)	dbSNP
12	g.52433757A>G	CA2618923489	KRT75	c.498+50T>C (n.498+50T>C)	gnomAD v4
12	g.52433758G>A	CA2618923490	KRT75	c.498+49C>T (n.498+49C>T)	gnomAD v4
12	g.52433758G>C	CA2618923491	KRT75	c.498+49C>G (n.498+49C>G)	gnomAD v4
12	g.52433759A=	CA2036511415	KRT75	c.498+48T= (n.498+48T=)
12	g.52433759A>G	CA947694163	KRT75	c.498+48T>C (n.498+48T>C)	dbSNP gnomAD v3 gnomAD v4
12	g.52433760G=	CA2036511416	KRT75	c.498+47C= (n.498+47C=)
12	g.52433760G>T	CA605240277	KRT75	c.498+47C>A (n.498+47C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52433766T>G	CA2618923492	KRT75	c.498+41A>C (n.498+41A>C)	gnomAD v4
12	g.52433768G>C	CA237223707	KRT75	c.498+39C>G (n.498+39C>G)	dbSNP gnomAD v2 gnomAD v4
12	g.52433768G=	CA2036511418	KRT75	c.498+39C= (n.498+39C=)
12	g.52433770T>C	CA605240278	KRT75	c.498+37A>G (n.498+37A>G)	dbSNP gnomAD v2 gnomAD v4
12	g.52433770T>G	CA689825756	KRT75	c.498+37A>C (n.498+37A>C)	dbSNP gnomAD v3 gnomAD v4
12	g.52433770T=	CA2036511421	KRT75	c.498+37A= (n.498+37A=)
12	g.52433772C>A	CA2575164778	KRT75	c.498+35G>T (n.498+35G>T)	gnomAD v4
12	g.52433775A=	CA2036511424	KRT75	c.498+32T= (n.498+32T=)
12	g.52433775A>C	CA2618923493	KRT75	c.498+32T>G (n.498+32T>G)	gnomAD v4
12	g.52433775A>G	CA605240279	KRT75	c.498+32T>C (n.498+32T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52433777C>T	CA2618923494	KRT75	c.498+30G>A (n.498+30G>A)	gnomAD v4
12	g.52433778C=	CA2036511425	KRT75	c.498+29G= (n.498+29G=)
12	g.52433778C>T	CA6580131	KRT75	c.498+29G>A (n.498+29G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52433779C>A	CA605240280	KRT75	c.498+28G>T (n.498+28G>T)	dbSNP gnomAD v2 gnomAD v4
12	g.52433779C=	CA2036511430	KRT75	c.498+28G= (n.498+28G=)
12	g.52433781A>G	CA2618923495	KRT75	c.498+26T>C (n.498+26T>C)	gnomAD v4
12	g.52433782G>A	CA2618923497	KRT75	c.498+25C>T (n.498+25C>T)	gnomAD v4
12	g.52433786del	CA2618923496	KRT75	c.498+25del (n.498+25del)	gnomAD v4
12	g.52433783G>A	CA2618923498	KRT75	c.498+24C>T (n.498+24C>T)	gnomAD v4
12	g.52433783G>C	CA6580132	KRT75	c.498+24C>G (n.498+24C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52433783G=	CA2036511432	KRT75	c.498+24C= (n.498+24C=)
12	g.52433783G>T	CA2036511433	KRT75	c.498+24C>A (n.498+24C>A)	dbSNP gnomAD v4
12	g.52433784G>A	CA6580133	KRT75	c.498+23C>T (n.498+23C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52433784G>C	CA947694172	KRT75	c.498+23C>G (n.498+23C>G)	dbSNP gnomAD v3 gnomAD v4
12	g.52433784G=	CA2036511434	KRT75	c.498+23C= (n.498+23C=)
12	g.52433785G>A	CA2575164779	KRT75	c.498+22C>T (n.498+22C>T)	gnomAD v4
12	g.52433785G>T	CA2618923499	KRT75	c.498+22C>A (n.498+22C>A)	gnomAD v4
12	g.52433785_52433809delinsGGTGGATGAAGCCCCTGCTTACCTT	CA2036511435	KRT75	c.496_498+22delinsAAGGTAAGCAGGGGCTTCATCCACC
12	g.52433786G>A	CA6580134	KRT75	c.498+21C>T (n.498+21C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.52433786G>C	CA2618923500	KRT75	c.498+21C>G (n.498+21C>G)	gnomAD v4
12	g.52433786G=	CA2036511437	KRT75	c.498+21C= (n.498+21C=)
12	g.52433788_52433811del	CA2036511436	KRT75	c.496_498+21del	dbSNP
12	g.52433787T>C	CA237223717	KRT75	c.498+20A>G (n.498+20A>G)	dbSNP gnomAD v3 gnomAD v4
12	g.52433787T=	CA2036511438	KRT75	c.498+20A= (n.498+20A=)
12	g.52433788G>C	CA2036511440	KRT75	c.498+19C>G (n.498+19C>G)	dbSNP
12	g.52433788G=	CA2036511439	KRT75	c.498+19C= (n.498+19C=)
12	g.52433789G>A	CA689825833	KRT75	c.498+18C>T (n.498+18C>T)	dbSNP
12	g.52433789G=	CA2036511442	KRT75	c.498+18C= (n.498+18C=)
12	g.52433792G>A	CA2618923501	KRT75	c.498+15C>T (n.498+15C>T)	gnomAD v4
12	g.52433794A=	CA2036511443	KRT75	c.498+13T= (n.498+13T=)
12	g.52433794A>C	CA947694176	KRT75	c.498+13T>G (n.498+13T>G)	dbSNP gnomAD v3 gnomAD v4
12	g.52433794A>T	CA2795998150	KRT75	c.498+13T>A (n.498+13T>A)
12	g.52433795G>A	CA2618923502	KRT75	c.498+12C>T (n.498+12C>T)	gnomAD v4
12	g.52433795G>T	CA2618923503	KRT75	c.498+12C>A (n.498+12C>A)	gnomAD v4
12	g.52433795_52433796delinsGC	CA2036511445	KRT75	c.498+11_498+12delinsGC (n.498+11_498+12delinsGC)
12	g.52433796C>A	CA2036511447	KRT75	c.498+11G>T (n.498+11G>T)	dbSNP
12	g.52433796C=	CA2036511446	KRT75	c.498+11G= (n.498+11G=)
12	g.52433799del	CA605240281	KRT75	c.498+11del (n.498+11del)	dbSNP gnomAD v2 gnomAD v4
12	g.52433797C>T	CA2618923504	KRT75	c.498+10G>A (n.498+10G>A)	gnomAD v4
12	g.52433798C>A	CA605240283	KRT75	c.498+9G>T (n.498+9G>T)	dbSNP gnomAD v2
12	g.52433798C=	CA2036511448	KRT75	c.498+9G= (n.498+9G=)
12	g.52433798C>G	CA2618923505	KRT75	c.498+9G>C (n.498+9G>C)	gnomAD v4
12	g.52433798C>T	CA605240282	KRT75	c.498+9G>A (n.498+9G>A)	dbSNP gnomAD v2 gnomAD v4
12	g.52433799C>T	CA2575164780	KRT75	c.498+8G>A (n.498+8G>A)
12	g.52433801G>A	CA237223726	KRT75	c.498+6C>T (n.498+6C>T)	dbSNP gnomAD v2 gnomAD v4
12	g.52433801G=	CA2036511449	KRT75	c.498+6C= (n.498+6C=)
12	g.52433801G>T	CA237223730	KRT75	c.498+6C>A (n.498+6C>A)	dbSNP
12	g.52433802C>T	CA2795998151	KRT75	c.498+5G>A (n.498+5G>A)
12	g.52433805A>C	CA384973331	KRT75	c.498+2T>G (n.498+2T>G)
12	g.52433805A>G	CA384973333	KRT75	c.498+2T>C (n.498+2T>C)
12	g.52433805A>T	CA384973335	KRT75	c.498+2T>A (n.498+2T>A)
12	g.52433806C>A	CA384973339	KRT75	c.498+1G>T (n.498+1G>T)
12	g.52433806C>G	CA384973342	KRT75	c.498+1G>C (n.498+1G>C)
12	g.52433806C>T	CA384973343	KRT75	c.498+1G>A (n.498+1G>A)
12	g.52433807C>A	CA384973347	KRT75	c.498G>T (p.Lys166Asn)
12	g.52433807C=	CA2036511453	KRT75	c.498G= (p.Lys166=)
12	g.52433807C>G	CA384973349	KRT75	c.498G>C (p.Lys166Asn)
12	g.52433807C>T	CA480067528	KRT75	c.498G>A (p.Lys166=)	dbSNP gnomAD v2 gnomAD v4
12	g.52433808T>A	CA384973352	KRT75	c.497A>T (p.Lys166Met)
12	g.52433808T>C	CA6580135	KRT75	c.497A>G (p.Lys166Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52433808T>G	CA384973356	KRT75	c.497A>C (p.Lys166Thr)
12	g.52433808T=	CA2036511454	KRT75	c.497A= (p.Lys166=)
12	g.52433809T>A	CA384973357	KRT75	c.496A>T (p.Lys166Ter)
12	g.52433809T>C	CA384973359	KRT75	c.496A>G (p.Lys166Glu)
12	g.52433809T>G	CA384973358	KRT75	c.496A>C (p.Lys166Gln)
12	g.52433810G>A	CA237223731	KRT75	c.495C>T (p.Asp165=)	dbSNP gnomAD v3 gnomAD v4
12	g.52433810G>C	CA384973364	KRT75	c.495C>G (p.Asp165Glu)
12	g.52433810G=	CA2036511455	KRT75	c.495C= (p.Asp165=)
12	g.52433810G>T	CA384973361	KRT75	c.495C>A (p.Asp165Glu)	COSMIC
12	g.52433811T>A	CA384973366	KRT75	c.494A>T (p.Asp165Val)	dbSNP
12	g.52433811T>C	CA384973368	KRT75	c.494A>G (p.Asp165Gly)
12	g.52433811T>G	CA384973369	KRT75	c.494A>C (p.Asp165Ala)
12	g.52433811T=	CA2036511459	KRT75	c.494A= (p.Asp165=)
12	g.52433812C>A	CA384973372	KRT75	c.493G>T (p.Asp165Tyr)
12	g.52433812C=	CA2036511460	KRT75	c.493G= (p.Asp165=)
12	g.52433812C>G	CA384973375	KRT75	c.493G>C (p.Asp165His)
12	g.52433812C>T	CA6580136	KRT75	c.493G>A (p.Asp165Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52433813G>A	CA237223740	KRT75	c.492C>T (p.Ile164=)	dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.52433813G>C	CA384973379	KRT75	c.492C>G (p.Ile164Met)
12	g.52433813G=	CA2036511461	KRT75	c.492C= (p.Ile164=)
12	g.52433813G>T	CA480067534	KRT75	c.492C>A (p.Ile164=)
12	g.52433814A>C	CA384973382	KRT75	c.491T>G (p.Ile164Ser)
12	g.52433814A>G	CA384973384	KRT75	c.491T>C (p.Ile164Thr)
12	g.52433814A>T	CA384973385	KRT75	c.491T>A (p.Ile164Asn)
12	g.52433815T>A	CA384973388	KRT75	c.490A>T (p.Ile164Phe)
12	g.52433815T>C	CA384973390	KRT75	c.490A>G (p.Ile164Val)	gnomAD v4
12	g.52433815T>G	CA384973391	KRT75	c.490A>C (p.Ile164Leu)	dbSNP gnomAD v3 gnomAD v4
12	g.52433815T=	CA2036511463	KRT75	c.490A= (p.Ile164=)
12	g.52433816G>A	CA480067539	KRT75	c.489C>T (p.Phe163=)	dbSNP gnomAD v3 gnomAD v4
12	g.52433816G>C	CA384973394	KRT75	c.489C>G (p.Phe163Leu)
12	g.52433816G=	CA2036511468	KRT75	c.489C= (p.Phe163=)
12	g.52433816G>T	CA384973396	KRT75	c.489C>A (p.Phe163Leu)
12	g.52433816dup	CA2618923506	KRT75	c.489dup (p.Ile164HisfsTer?)	gnomAD v4
12	g.52433817A>C	CA384973398	KRT75	c.488T>G (p.Phe163Cys)
12	g.52433817A>G	CA384973402	KRT75	c.488T>C (p.Phe163Ser)
12	g.52433817A>T	CA384973404	KRT75	c.488T>A (p.Phe163Tyr)	gnomAD v4
12	g.52433818A>C	CA384973407	KRT75	c.487T>G (p.Phe163Val)
12	g.52433818A>G	CA384973409	KRT75	c.487T>C (p.Phe163Leu)
12	g.52433818A>T	CA384973410	KRT75	c.487T>A (p.Phe163Ile)
12	g.52433819G>A	CA480067541	KRT75	c.486C>T (p.Ser162=)
12	g.52433819G>C	CA480067543	KRT75	c.486C>G (p.Ser162=)
12	g.52433819G>T	CA480067544	KRT75	c.486C>A (p.Ser162=)
12	g.52433820G>A	CA384973413	KRT75	c.485C>T (p.Ser162Phe)
12	g.52433820G>C	CA384973414	KRT75	c.485C>G (p.Ser162Cys)
12	g.52433820G=	CA2036511471	KRT75	c.485C= (p.Ser162=)
12	g.52433820G>T	CA384973416	KRT75	c.485C>A (p.Ser162Tyr)	dbSNP
12	g.52433821A=	CA2036511473	KRT75	c.484T= (p.Ser162=)
12	g.52433821A>C	CA384973419	KRT75	c.484T>G (p.Ser162Ala)
12	g.52433821A>G	CA384973420	KRT75	c.484T>C (p.Ser162Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.52433821A>T	CA384973422	KRT75	c.484T>A (p.Ser162Thr)
12	g.52433822G>A	CA6580137	KRT75	c.483C>T (p.Ala161=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.52433822G>C	CA480067547	KRT75	c.483C>G (p.Ala161=)
12	g.52433822G=	CA2036511475	KRT75	c.483C= (p.Ala161=)
12	g.52433822G>T	CA480067546	KRT75	c.483C>A (p.Ala161=)
12	g.52433823G>A	CA384973428	KRT75	c.482C>T (p.Ala161Val)
12	g.52433823G>C	CA384973425	KRT75	c.482C>G (p.Ala161Gly)	gnomAD v4
12	g.52433823G>T	CA384973427	KRT75	c.482C>A (p.Ala161Asp)	gnomAD v4
12	g.52433824C>A	CA384973430	KRT75	c.481G>T (p.Ala161Ser)	gnomAD v4
12	g.52433824C=	CA2036511479	KRT75	c.481G= (p.Ala161=)
12	g.52433824C>G	CA384973431	KRT75	c.481G>C (p.Ala161Pro)
12	g.52433824C>T	CA115267	KRT75	c.481G>A (p.Ala161Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched