Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.91055490A=	CA2054259638	KERA	c.792T= (p.Ile264=)
12	g.91055490A>C	CA386013337	KERA	c.792T>G (p.Ile264Met)
12	g.91055490A>G	CA481306480	KERA	c.792T>C (p.Ile264=)
12	g.91055490A>T	CA6716508	KERA	c.792T>A (p.Ile264=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.91055491A>C	CA386013338	KERA	c.791T>G (p.Ile264Ser)
12	g.91055491A>G	CA386013339	KERA	c.791T>C (p.Ile264Thr)
12	g.91055491A>T	CA386013340	KERA	c.791T>A (p.Ile264Asn)
12	g.91055492T>A	CA386013341	KERA	c.790A>T (p.Ile264Phe)
12	g.91055492T>C	CA6716509	KERA	c.790A>G (p.Ile264Val)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.91055492T>G	CA386013342	KERA	c.790A>C (p.Ile264Leu)
12	g.91055492T=	CA2054259639	KERA	c.790A= (p.Ile264=)
12	g.91055493T>A	CA481306483	KERA	c.789A>T (p.Ser263=)
12	g.91055493T>C	CA481306484	KERA	c.789A>G (p.Ser263=)
12	g.91055493T>G	CA481306486	KERA	c.789A>C (p.Ser263=)
12	g.91055497_91055499del	CA2620149235	KERA	c.787_789del (p.Ser263del)	gnomAD v4
12	g.91055494G>A	CA241201269	KERA	c.788C>T (p.Ser263Leu)	dbSNP gnomAD v2 gnomAD v4
12	g.91055494G>C	CA386013343	KERA	c.788C>G (p.Ser263Ter)
12	g.91055494G=	CA2054259640	KERA	c.788C= (p.Ser263=)
12	g.91055494G>T	CA386013344	KERA	c.788C>A (p.Ser263Ter)
12	g.91055495A>C	CA386013345	KERA	c.787T>G (p.Ser263Ala)
12	g.91055495A>G	CA386013346	KERA	c.787T>C (p.Ser263Pro)
12	g.91055495A>T	CA386013347	KERA	c.787T>A (p.Ser263Thr)
12	g.91055496T>A	CA6716510	KERA	c.786A>T (p.Ser262=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.91055496T>C	CA481306490	KERA	c.786A>G (p.Ser262=)	dbSNP gnomAD v4
12	g.91055496T>G	CA481306491	KERA	c.786A>C (p.Ser262=)
12	g.91055496T=	CA2054259641	KERA	c.786A= (p.Ser262=)
12	g.91055497G>A	CA386013348	KERA	c.785C>T (p.Ser262Leu)
12	g.91055497G>C	CA386013349	KERA	c.785C>G (p.Ser262Ter)
12	g.91055497G>T	CA386013350	KERA	c.785C>A (p.Ser262Ter)
12	g.91055498A>C	CA386013351	KERA	c.784T>G (p.Ser262Ala)
12	g.91055498A>G	CA386013353	KERA	c.784T>C (p.Ser262Pro)
12	g.91055498A>T	CA386013352	KERA	c.784T>A (p.Ser262Thr)
12	g.91055499T>A	CA481306496	KERA	c.783A>T (p.Val261=)
12	g.91055499T>C	CA481306493	KERA	c.783A>G (p.Val261=)
12	g.91055499T>G	CA481306495	KERA	c.783A>C (p.Val261=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.91055499T=	CA2054259642	KERA	c.783A= (p.Val261=)
12	g.91055500A=	CA2054259643	KERA	c.782T= (p.Val261=)
12	g.91055500A>C	CA386013354	KERA	c.782T>G (p.Val261Gly)
12	g.91055500A>G	CA386013355	KERA	c.782T>C (p.Val261Ala)	dbSNP COSMIC
12	g.91055500A>T	CA386013356	KERA	c.782T>A (p.Val261Glu)	dbSNP gnomAD v3 gnomAD v4
12	g.91055501C>A	CA386013357	KERA	c.781G>T (p.Val261Leu)
12	g.91055501C>G	CA386013358	KERA	c.781G>C (p.Val261Leu)
12	g.91055501C>T	CA386013359	KERA	c.781G>A (p.Val261Ile)	gnomAD v4
12	g.91055502A=	CA2054259644	KERA	c.780T= (p.Asp260=)
12	g.91055502A>C	CA386013360	KERA	c.780T>G (p.Asp260Glu)	dbSNP
12	g.91055502A>G	CA481306501	KERA	c.780T>C (p.Asp260=)
12	g.91055502A>T	CA386013361	KERA	c.780T>A (p.Asp260Glu)
12	g.91055503T>A	CA386013362	KERA	c.779A>T (p.Asp260Val)	dbSNP
12	g.91055503T>C	CA386013363	KERA	c.779A>G (p.Asp260Gly)	dbSNP
12	g.91055503T>G	CA386013364	KERA	c.779A>C (p.Asp260Ala)
12	g.91055503T=	CA2054259645	KERA	c.779A= (p.Asp260=)
12	g.91055505_91055512del	CA2695217070	KERA	c.772_779del (p.Gly258CysfsTer30)
12	g.91055504C>A	CA6716511	KERA	c.778G>T (p.Asp260Tyr)	dbSNP ExAC
12	g.91055504C=	CA2054259646	KERA	c.778G= (p.Asp260=)
12	g.91055504C>G	CA386013365	KERA	c.778G>C (p.Asp260His)	gnomAD v4
12	g.91055504C>T	CA386013366	KERA	c.778G>A (p.Asp260Asn)
12	g.91055505A=	CA2054259647	KERA	c.777T= (p.Phe259=)
12	g.91055505A>C	CA386013367	KERA	c.777T>G (p.Phe259Leu)	dbSNP
12	g.91055505A>G	CA6716512	KERA	c.777T>C (p.Phe259=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.91055505A>T	CA386013368	KERA	c.777T>A (p.Phe259Leu)
12	g.91055506A>C	CA386013369	KERA	c.776T>G (p.Phe259Cys)
12	g.91055506A>G	CA386013370	KERA	c.776T>C (p.Phe259Ser)
12	g.91055506A>T	CA386013371	KERA	c.776T>A (p.Phe259Tyr)
12	g.91055507A>C	CA386013372	KERA	c.775T>G (p.Phe259Val)
12	g.91055507A>G	CA386013373	KERA	c.775T>C (p.Phe259Leu)
12	g.91055507A>T	CA386013374	KERA	c.775T>A (p.Phe259Ile)	gnomAD v4
12	g.91055508T>A	CA481306510	KERA	c.774A>T (p.Gly258=)
12	g.91055508T>C	CA481306511	KERA	c.774A>G (p.Gly258=)
12	g.91055508T>G	CA481306512	KERA	c.774A>C (p.Gly258=)
12	g.91055509C>A	CA386013377	KERA	c.773G>T (p.Gly258Val)
12	g.91055509C>G	CA386013375	KERA	c.773G>C (p.Gly258Ala)
12	g.91055509C>T	CA386013376	KERA	c.773G>A (p.Gly258Glu)	gnomAD v4
12	g.91055510C>A	CA386013378	KERA	c.772G>T (p.Gly258Ter)
12	g.91055510C=	CA2054259648	KERA	c.772G= (p.Gly258=)
12	g.91055510C>G	CA386013379	KERA	c.772G>C (p.Gly258Arg)
12	g.91055510C>T	CA386013380	KERA	c.772G>A (p.Gly258Arg)	dbSNP
12	g.91055511T>A	CA386013381	KERA	c.771A>T (p.Arg257Ser)
12	g.91055511T>C	CA481306518	KERA	c.771A>G (p.Arg257=)
12	g.91055511T>G	CA386013382	KERA	c.771A>C (p.Arg257Ser)
12	g.91055512C>A	CA386013383	KERA	c.770G>T (p.Arg257Ile)
12	g.91055512C>G	CA386013384	KERA	c.770G>C (p.Arg257Thr)
12	g.91055512C>T	CA386013385	KERA	c.770G>A (p.Arg257Lys)	gnomAD v4
12	g.91055513T>A	CA386013386	KERA	c.769A>T (p.Arg257Ter)
12	g.91055513T>C	CA386013387	KERA	c.769A>G (p.Arg257Gly)	gnomAD v4
12	g.91055513T>G	CA481306523	KERA	c.769A>C (p.Arg257=)
12	g.91055513_91055514del	CA2620149236	KERA	c.768_769del (p.Gly258IlefsTer2)	gnomAD v4
12	g.91055514T>A	CA481306524	KERA	c.768A>T (p.Ser256=)
12	g.91055514T>C	CA481306526	KERA	c.768A>G (p.Ser256=)	gnomAD v4
12	g.91055514T>G	CA481306527	KERA	c.768A>C (p.Ser256=)	gnomAD v4
12	g.91055515G>A	CA386013388	KERA	c.767C>T (p.Ser256Leu)	COSMIC
12	g.91055515G>C	CA6716514	KERA	c.767C>G (p.Ser256Ter)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.91055515G=	CA2054259649	KERA	c.767C= (p.Ser256=)
12	g.91055515G>T	CA6716513	KERA	c.767C>A (p.Ser256Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.91055516A=	CA2054259650	KERA	c.766T= (p.Ser256=)
12	g.91055516A>C	CA386013389	KERA	c.766T>G (p.Ser256Ala)	dbSNP gnomAD v3 gnomAD v4
12	g.91055516A>G	CA386013391	KERA	c.766T>C (p.Ser256Pro)	dbSNP gnomAD v3 gnomAD v4
12	g.91055516A>T	CA386013390	KERA	c.766T>A (p.Ser256Thr)
12	g.91055517T>A	CA481306534	KERA	c.765A>T (p.Pro255=)
12	g.91055517T>C	CA481306535	KERA	c.765A>G (p.Pro255=)
12	g.91055517T>G	CA481306536	KERA	c.765A>C (p.Pro255=)
12	g.91055518G>A	CA386013392	KERA	c.764C>T (p.Pro255Leu)
12	g.91055518G>C	CA386013393	KERA	c.764C>G (p.Pro255Arg)
12	g.91055518G>T	CA386013394	KERA	c.764C>A (p.Pro255Gln)
12	g.91055519G>A	CA386013395	KERA	c.763C>T (p.Pro255Ser)
12	g.91055519G>C	CA386013396	KERA	c.763C>G (p.Pro255Ala)
12	g.91055519G>T	CA386013397	KERA	c.763C>A (p.Pro255Thr)
12	g.91055520G>A	CA481306539	KERA	c.762C>T (p.Leu254=)	gnomAD v4
12	g.91055520G>C	CA481306540	KERA	c.762C>G (p.Leu254=)
12	g.91055520G>T	CA481306543	KERA	c.762C>A (p.Leu254=)
12	g.91055521A=	CA2054259651	KERA	c.761T= (p.Leu254=)
12	g.91055521A>C	CA386013398	KERA	c.761T>G (p.Leu254Arg)	dbSNP gnomAD v4
12	g.91055521A>G	CA386013399	KERA	c.761T>C (p.Leu254Pro)	COSMIC
12	g.91055521A>T	CA386013400	KERA	c.761T>A (p.Leu254His)
12	g.91055522G>A	CA6716515	KERA	c.760C>T (p.Leu254Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.91055522G>C	CA386013401	KERA	c.760C>G (p.Leu254Val)
12	g.91055522G=	CA2054259652	KERA	c.760C= (p.Leu254=)
12	g.91055522G>T	CA386013402	KERA	c.760C>A (p.Leu254Ile)	dbSNP
12	g.91055523A>C	CA481306550	KERA	c.759T>G (p.Gly253=)
12	g.91055523A>G	CA481306551	KERA	c.759T>C (p.Gly253=)
12	g.91055523A>T	CA481306552	KERA	c.759T>A (p.Gly253=)	gnomAD v4
12	g.91055524C>A	CA386013403	KERA	c.758G>T (p.Gly253Val)	dbSNP gnomAD v2 gnomAD v4
12	g.91055524C=	CA2054259654	KERA	c.758G= (p.Gly253=)
12	g.91055524C>G	CA386013404	KERA	c.758G>C (p.Gly253Ala)
12	g.91055524C>T	CA241201288	KERA	c.758G>A (p.Gly253Asp)	dbSNP
12	g.91055525_91055528del	CA2620149237	KERA	c.755_758del (p.Glu252ValfsTer13)	gnomAD v4
12	g.91055524_91055534delinsCCCTCATCTGA	CA2054259653	KERA	c.748_758delinsTCAGATGAGGG (p.Ser250=)
12	g.91055525C>A	CA386013405	KERA	c.757G>T (p.Gly253Cys)
12	g.91055525C>G	CA386013406	KERA	c.757G>C (p.Gly253Arg)	gnomAD v4
12	g.91055525C>T	CA386013407	KERA	c.757G>A (p.Gly253Ser)
12	g.91055526_91055535del	CA2054259655	KERA	c.748_757del (p.Ser250ValfsTer13)	dbSNP
12	g.91055526C>A	CA386013408	KERA	c.756G>T (p.Glu252Asp)
12	g.91055526C=	CA2054259656	KERA	c.756G= (p.Glu252=)
12	g.91055526C>G	CA386013409	KERA	c.756G>C (p.Glu252Asp)
12	g.91055526C>T	CA241201298	KERA	c.756G>A (p.Glu252=)	dbSNP gnomAD v3 gnomAD v4
12	g.91055527T>A	CA386013410	KERA	c.755A>T (p.Glu252Val)
12	g.91055527T>C	CA386013411	KERA	c.755A>G (p.Glu252Gly)
12	g.91055527T>G	CA386013412	KERA	c.755A>C (p.Glu252Ala)
12	g.91055528C>A	CA386013413	KERA	c.754G>T (p.Glu252Ter)
12	g.91055528C=	CA2054259657	KERA	c.754G= (p.Glu252=)
12	g.91055528C>G	CA386013415	KERA	c.754G>C (p.Glu252Gln)
12	g.91055528C>T	CA386013414	KERA	c.754G>A (p.Glu252Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.91055529A>C	CA386013416	KERA	c.753T>G (p.Asp251Glu)
12	g.91055529A>G	CA481306568	KERA	c.753T>C (p.Asp251=)	gnomAD v4
12	g.91055529A>T	CA386013417	KERA	c.753T>A (p.Asp251Glu)
12	g.91055530T>A	CA386013418	KERA	c.752A>T (p.Asp251Val)
12	g.91055530T>C	CA386013419	KERA	c.752A>G (p.Asp251Gly)
12	g.91055530T>G	CA386013420	KERA	c.752A>C (p.Asp251Ala)
12	g.91055530_91055535del	CA2620149238	KERA	c.747_752del (p.Ser250_Asp251del)	gnomAD v4
12	g.91055531C>A	CA386013421	KERA	c.751G>T (p.Asp251Tyr)	COSMIC
12	g.91055531C=	CA2054259658	KERA	c.751G= (p.Asp251=)
12	g.91055531C>G	CA386013422	KERA	c.751G>C (p.Asp251His)	COSMIC
12	g.91055531C>T	CA386013423	KERA	c.751G>A (p.Asp251Asn)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.91055532T>A	CA481306570	KERA	c.750A>T (p.Ser250=)
12	g.91055532T>C	CA481306573	KERA	c.750A>G (p.Ser250=)
12	g.91055532T>G	CA481306571	KERA	c.750A>C (p.Ser250=)
12	g.91055533G>A	CA386013424	KERA	c.749C>T (p.Ser250Leu)
12	g.91055533G>C	CA386013426	KERA	c.749C>G (p.Ser250Ter)	dbSNP
12	g.91055533G=	CA2054259659	KERA	c.749C= (p.Ser250=)
12	g.91055533G>T	CA386013425	KERA	c.749C>A (p.Ser250Ter)
12	g.91055534A=	CA2054259660	KERA	c.748T= (p.Ser250=)
12	g.91055534A>C	CA386013427	KERA	c.748T>G (p.Ser250Ala)
12	g.91055534A>G	CA386013429	KERA	c.748T>C (p.Ser250Pro)	dbSNP gnomAD v4
12	g.91055534A>T	CA386013428	KERA	c.748T>A (p.Ser250Thr)
12	g.91055535C>A	CA481306577	KERA	c.747G>T (p.Leu249=)	dbSNP
12	g.91055535C=	CA2054259661	KERA	c.747G= (p.Leu249=)
12	g.91055535C>G	CA481306578	KERA	c.747G>C (p.Leu249=)
12	g.91055535C>T	CA481306579	KERA	c.747G>A (p.Leu249=)
12	g.91055536A>C	CA386013430	KERA	c.746T>G (p.Leu249Arg)
12	g.91055536A>G	CA386013431	KERA	c.746T>C (p.Leu249Pro)
12	g.91055536A>T	CA386013432	KERA	c.746T>A (p.Leu249Gln)
12	g.91055537G>A	CA481306583	KERA	c.745C>T (p.Leu249=)	dbSNP gnomAD v2 gnomAD v4
12	g.91055537G>C	CA6716516	KERA	c.745C>G (p.Leu249Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.91055537G=	CA2054259662	KERA	c.745C= (p.Leu249=)
12	g.91055537G>T	CA386013433	KERA	c.745C>A (p.Leu249Met)
12	g.91055538T>A	CA386013434	KERA	c.744A>T (p.Lys248Asn)
12	g.91055538T>C	CA481306585	KERA	c.744A>G (p.Lys248=)	gnomAD v4 COSMIC
12	g.91055538T>G	CA386013435	KERA	c.744A>C (p.Lys248Asn)
12	g.91055539T>A	CA386013436	KERA	c.743A>T (p.Lys248Ile)
12	g.91055539T>C	CA386013437	KERA	c.743A>G (p.Lys248Arg)	gnomAD v4
12	g.91055539T>G	CA6716517	KERA	c.743A>C (p.Lys248Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.91055539T=	CA2054259663	KERA	c.743A= (p.Lys248=)
12	g.91055540T>A	CA386013440	KERA	c.742A>T (p.Lys248Ter)
12	g.91055540T>C	CA386013439	KERA	c.742A>G (p.Lys248Glu)	dbSNP gnomAD v3 gnomAD v4
12	g.91055540T>G	CA386013438	KERA	c.742A>C (p.Lys248Gln)
12	g.91055540T=	CA2054259664	KERA	c.742A= (p.Lys248=)
12	g.91055541G>A	CA6716519	KERA	c.741C>T (p.Asn247=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.91055541G>C	CA386013441	KERA	c.741C>G (p.Asn247Lys)
12	g.91055541G=	CA2054259665	KERA	c.741C= (p.Asn247=)
12	g.91055541G>T	CA6716518	KERA	c.741C>A (p.Asn247Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.91055542T>A	CA386013442	KERA	c.740A>T (p.Asn247Ile)
12	g.91055542T>C	CA118319	KERA	c.740A>G (p.Asn247Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.91055542T>G	CA386013443	KERA	c.740A>C (p.Asn247Thr)
12	g.91055542T=	CA2054259666	KERA	c.740A= (p.Asn247=)
12	g.91055543T>A	CA386013444	KERA	c.739A>T (p.Asn247Tyr)
12	g.91055543T>C	CA386013445	KERA	c.739A>G (p.Asn247Asp)	ClinVar
12	g.91055543T>G	CA386013446	KERA	c.739A>C (p.Asn247His)
12	g.91055544G>A	CA481306593	KERA	c.738C>T (p.His246=)
12	g.91055544G>C	CA386013447	KERA	c.738C>G (p.His246Gln)
12	g.91055544G>T	CA386013448	KERA	c.738C>A (p.His246Gln)
12	g.91055545T>A	CA386013449	KERA	c.737A>T (p.His246Leu)
12	g.91055545T>C	CA6716520	KERA	c.737A>G (p.His246Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.91055545T>G	CA6716521	KERA	c.737A>C (p.His246Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.91055545T=	CA2054259667	KERA	c.737A= (p.His246=)
12	g.91055546G>A	CA386013450	KERA	c.736C>T (p.His246Tyr)
12	g.91055546G>C	CA386013451	KERA	c.736C>G (p.His246Asp)
12	g.91055546G>T	CA386013452	KERA	c.736C>A (p.His246Asn)
12	g.91055547A>C	CA386013453	KERA	c.735T>G (p.Asn245Lys)
12	g.91055547A>G	CA481306602	KERA	c.735T>C (p.Asn245=)
12	g.91055547A>T	CA386013454	KERA	c.735T>A (p.Asn245Lys)
12	g.91055548T>A	CA386013455	KERA	c.734A>T (p.Asn245Ile)
12	g.91055548T>C	CA386013456	KERA	c.734A>G (p.Asn245Ser)
12	g.91055548T>G	CA386013457	KERA	c.734A>C (p.Asn245Thr)
12	g.91055549T>A	CA386013460	KERA	c.733A>T (p.Asn245Tyr)
12	g.91055549T>C	CA386013459	KERA	c.733A>G (p.Asn245Asp)
12	g.91055549T>G	CA386013458	KERA	c.733A>C (p.Asn245His)
12	g.91055550T>A	CA481306608	KERA	c.732A>T (p.Leu244=)
12	g.91055550T>C	CA481306609	KERA	c.732A>G (p.Leu244=)
12	g.91055550T>G	CA481306610	KERA	c.732A>C (p.Leu244=)
12	g.91055551A>C	CA386013461	KERA	c.731T>G (p.Leu244Arg)
12	g.91055551A>G	CA386013462	KERA	c.731T>C (p.Leu244Pro)
12	g.91055551A>T	CA386013463	KERA	c.731T>A (p.Leu244Gln)
12	g.91055552G>A	CA481306613	KERA	c.730C>T (p.Leu244=)	gnomAD v4
12	g.91055552G>C	CA386013464	KERA	c.730C>G (p.Leu244Val)
12	g.91055552G>T	CA386013465	KERA	c.730C>A (p.Leu244Ile)
12	g.91055553T>A	CA386013466	KERA	c.729A>T (p.Arg243Ser)
12	g.91055553T>C	CA481306614	KERA	c.729A>G (p.Arg243=)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.91055553T>G	CA386013467	KERA	c.729A>C (p.Arg243Ser)
12	g.91055553T=	CA2054259668	KERA	c.729A= (p.Arg243=)
12	g.91055554C>A	CA386013468	KERA	c.728G>T (p.Arg243Ile)
12	g.91055554C=	CA2054259669	KERA	c.728G= (p.Arg243=)
12	g.91055554C>G	CA386013469	KERA	c.728G>C (p.Arg243Thr)	dbSNP gnomAD v2 gnomAD v4
12	g.91055554C>T	CA386013470	KERA	c.728G>A (p.Arg243Lys)
12	g.91055555T>A	CA386013471	KERA	c.727A>T (p.Arg243Ter)
12	g.91055555T>C	CA386013472	KERA	c.727A>G (p.Arg243Gly)
12	g.91055555T>G	CA481306621	KERA	c.727A>C (p.Arg243=)
12	g.91055556C>A	CA386013473	KERA	c.726G>T (p.Leu242Phe)
12	g.91055556C>G	CA386013474	KERA	c.726G>C (p.Leu242Phe)
12	g.91055556C>T	CA481306632	KERA	c.726G>A (p.Leu242=)
12	g.91055556_91055557delinsCA	CA2054259670	KERA	c.725_726delinsTG (p.Leu242=)
12	g.91055557A>C	CA386013475	KERA	c.725T>G (p.Leu242Trp)
12	g.91055557A>G	CA386013476	KERA	c.725T>C (p.Leu242Ser)
12	g.91055557A>T	CA386013477	KERA	c.725T>A (p.Leu242Ter)
12	g.91055561dup	CA2620149239	KERA	c.725dup (p.Leu242PhefsTer11)	gnomAD v4
12	g.91055561del	CA919143761	KERA	c.725del (p.Leu242Ter)	dbSNP gnomAD v4
12	g.91055558A>C	CA386013478	KERA	c.724T>G (p.Leu242Val)
12	g.91055558A>G	CA481306643	KERA	c.724T>C (p.Leu242=)
12	g.91055558A>T	CA386013479	KERA	c.724T>A (p.Leu242Met)
12	g.91055559A>C	CA386013480	KERA	c.723T>G (p.Phe241Leu)
12	g.91055559A>G	CA481306646	KERA	c.723T>C (p.Phe241=)
12	g.91055559A>T	CA386013481	KERA	c.723T>A (p.Phe241Leu)
12	g.91055560A>C	CA386013482	KERA	c.722T>G (p.Phe241Cys)
12	g.91055560A>G	CA386013483	KERA	c.722T>C (p.Phe241Ser)
12	g.91055560A>T	CA386013484	KERA	c.722T>A (p.Phe241Tyr)
12	g.91055560_91055570delinsAAGGCCACTTT	CA2054259671	KERA	c.712_722delinsAAAGTGGCCTT (p.Lys238=)
12	g.91055561A>C	CA386013487	KERA	c.721T>G (p.Phe241Val)	gnomAD v4
12	g.91055561A>G	CA386013485	KERA	c.721T>C (p.Phe241Leu)
12	g.91055561A>T	CA386013486	KERA	c.721T>A (p.Phe241Ile)
12	g.91055564_91055573del	CA6716522	KERA	c.712_721del (p.Lys238PhefsTer2)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.91055562G>A	CA481306656	KERA	c.720C>T (p.Ala240=)	gnomAD v4 COSMIC
12	g.91055562G>C	CA481306657	KERA	c.720C>G (p.Ala240=)
12	g.91055562G>T	CA481306659	KERA	c.720C>A (p.Ala240=)
12	g.91055563G>A	CA6716523	KERA	c.719C>T (p.Ala240Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.91055563G>C	CA386013488	KERA	c.719C>G (p.Ala240Gly)	dbSNP gnomAD v4
12	g.91055563G=	CA2054259672	KERA	c.719C= (p.Ala240=)
12	g.91055563G>T	CA6716524	KERA	c.719C>A (p.Ala240Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.91055564C>A	CA386013489	KERA	c.718G>T (p.Ala240Ser)	COSMIC
12	g.91055564C>G	CA386013490	KERA	c.718G>C (p.Ala240Pro)
12	g.91055564C>T	CA386013491	KERA	c.718G>A (p.Ala240Thr)
12	g.91055565C>A	CA481306672	KERA	c.717G>T (p.Val239=)
12	g.91055565C>G	CA481306674	KERA	c.717G>C (p.Val239=)
12	g.91055565C>T	CA481306677	KERA	c.717G>A (p.Val239=)
12	g.91055566A>C	CA386013492	KERA	c.716T>G (p.Val239Gly)
12	g.91055566A>G	CA386013493	KERA	c.716T>C (p.Val239Ala)
12	g.91055566A>T	CA386013494	KERA	c.716T>A (p.Val239Glu)
12	g.91055567C>A	CA386013495	KERA	c.715G>T (p.Val239Leu)
12	g.91055567C=	CA2054259673	KERA	c.715G= (p.Val239=)
12	g.91055567C>G	CA386013496	KERA	c.715G>C (p.Val239Leu)
12	g.91055567C>T	CA6716525	KERA	c.715G>A (p.Val239Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.91055568T>A	CA386013497	KERA	c.714A>T (p.Lys238Asn)
12	g.91055568T>C	CA481306690	KERA	c.714A>G (p.Lys238=)
12	g.91055568T>G	CA386013498	KERA	c.714A>C (p.Lys238Asn)
12	g.91055569T>A	CA386013499	KERA	c.713A>T (p.Lys238Ile)
12	g.91055569T>C	CA386013500	KERA	c.713A>G (p.Lys238Arg)
12	g.91055569T>G	CA6716526	KERA	c.713A>C (p.Lys238Thr)	dbSNP ExAC gnomAD v2
12	g.91055569T=	CA2054259674	KERA	c.713A= (p.Lys238=)
12	g.91055570T>A	CA386013501	KERA	c.712A>T (p.Lys238Ter)
12	g.91055570T>C	CA386013502	KERA	c.712A>G (p.Lys238Glu)
12	g.91055570T>G	CA386013503	KERA	c.712A>C (p.Lys238Gln)
12	g.91055571A>C	CA481306708	KERA	c.711T>G (p.Pro237=)
12	g.91055571A>G	CA481306706	KERA	c.711T>C (p.Pro237=)
12	g.91055571A>T	CA481306700	KERA	c.711T>A (p.Pro237=)
12	g.91055572G>A	CA241201317	KERA	c.710C>T (p.Pro237Leu)	dbSNP
12	g.91055572G>C	CA386013504	KERA	c.710C>G (p.Pro237Arg)
12	g.91055572G=	CA2054259675	KERA	c.710C= (p.Pro237=)
12	g.91055572G>T	CA386013505	KERA	c.710C>A (p.Pro237His)
12	g.91055573G>A	CA386013506	KERA	c.709C>T (p.Pro237Ser)	gnomAD v4
12	g.91055573G>C	CA386013508	KERA	c.709C>G (p.Pro237Ala)
12	g.91055573G>T	CA386013507	KERA	c.709C>A (p.Pro237Thr)	gnomAD v4
12	g.91055574A>C	CA386013509	KERA	c.708T>G (p.Ile236Met)	gnomAD v4
12	g.91055574A>G	CA481306713	KERA	c.708T>C (p.Ile236=)
12	g.91055574A>T	CA481306712	KERA	c.708T>A (p.Ile236=)
12	g.91055575del	CA2620149240	KERA	c.708del (p.Pro237LeufsTer6)	gnomAD v4
12	g.91055575A=	CA2054259676	KERA	c.707T= (p.Ile236=)
12	g.91055575A>C	CA386013510	KERA	c.707T>G (p.Ile236Ser)
12	g.91055575A>G	CA386013511	KERA	c.707T>C (p.Ile236Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.91055575A>T	CA386013512	KERA	c.707T>A (p.Ile236Asn)	gnomAD v4
12	g.91055576T>A	CA386013513	KERA	c.706A>T (p.Ile236Phe)
12	g.91055576T>C	CA386013514	KERA	c.706A>G (p.Ile236Val)
12	g.91055576T>G	CA386013515	KERA	c.706A>C (p.Ile236Leu)
12	g.91055577C>A	CA481306714	KERA	c.705G>T (p.Val235=)
12	g.91055577C>G	CA481306715	KERA	c.705G>C (p.Val235=)
12	g.91055577C>T	CA481306717	KERA	c.705G>A (p.Val235=)
12	g.91055578A=	CA2054259677	KERA	c.704T= (p.Val235=)
12	g.91055578A>C	CA241201318	KERA	c.704T>G (p.Val235Gly)	dbSNP
12	g.91055578A>G	CA386013517	KERA	c.704T>C (p.Val235Ala)	COSMIC
12	g.91055578A>T	CA386013516	KERA	c.704T>A (p.Val235Glu)
12	g.91055579C>A	CA386013518	KERA	c.703G>T (p.Val235Leu)	dbSNP
12	g.91055579C=	CA2054259678	KERA	c.703G= (p.Val235=)
12	g.91055579C>G	CA386013520	KERA	c.703G>C (p.Val235Leu)
12	g.91055579C>T	CA386013519	KERA	c.703G>A (p.Val235Met)
12	g.91055580A>C	CA386013521	KERA	c.702T>G (p.Asn234Lys)
12	g.91055580A>G	CA481306726	KERA	c.702T>C (p.Asn234=)	gnomAD v4
12	g.91055580A>T	CA386013522	KERA	c.702T>A (p.Asn234Lys)	gnomAD v4
12	g.91055581T>A	CA386013523	KERA	c.701A>T (p.Asn234Ile)
12	g.91055581T>C	CA386013525	KERA	c.701A>G (p.Asn234Ser)	gnomAD v4
12	g.91055581T>G	CA386013524	KERA	c.701A>C (p.Asn234Thr)
12	g.91055582T>A	CA386013526	KERA	c.700A>T (p.Asn234Tyr)
12	g.91055582T>C	CA386013527	KERA	c.700A>G (p.Asn234Asp)
12	g.91055582T>G	CA386013528	KERA	c.700A>C (p.Asn234His)
12	g.91055582_91055583delinsTA	CA2054259679	KERA	c.699_700delinsTA (p.Phe233=)
12	g.91055583A>C	CA386013529	KERA	c.699T>G (p.Phe233Leu)
12	g.91055583A>G	CA481306727	KERA	c.699T>C (p.Phe233=)
12	g.91055583A>T	CA386013530	KERA	c.699T>A (p.Phe233Leu)
12	g.91055586del	CA2054259680	KERA	c.699del (p.Phe233LeufsTer3)	dbSNP
12	g.91055584A>C	CA386013531	KERA	c.698T>G (p.Phe233Cys)
12	g.91055584A>G	CA386013532	KERA	c.698T>C (p.Phe233Ser)
12	g.91055584A>T	CA386013533	KERA	c.698T>A (p.Phe233Tyr)
12	g.91055585A>C	CA386013536	KERA	c.697T>G (p.Phe233Val)
12	g.91055585A>G	CA386013535	KERA	c.697T>C (p.Phe233Leu)
12	g.91055585A>T	CA386013534	KERA	c.697T>A (p.Phe233Ile)
12	g.91055586A=	CA2054259681	KERA	c.696T= (p.Tyr232=)
12	g.91055586A>C	CA6716527	KERA	c.696T>G (p.Tyr232Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.91055586A>G	CA481306733	KERA	c.696T>C (p.Tyr232=)	dbSNP gnomAD v3 gnomAD v4
12	g.91055586A>T	CA386013537	KERA	c.696T>A (p.Tyr232Ter)
12	g.91055587T>A	CA386013538	KERA	c.695A>T (p.Tyr232Phe)	COSMIC
12	g.91055587T>C	CA386013539	KERA	c.695A>G (p.Tyr232Cys)
12	g.91055587T>G	CA386013540	KERA	c.695A>C (p.Tyr232Ser)
12	g.91055588A=	CA2054259682	KERA	c.694T= (p.Tyr232=)
12	g.91055588A>C	CA386013541	KERA	c.694T>G (p.Tyr232Asp)	dbSNP gnomAD v4
12	g.91055588A>G	CA386013542	KERA	c.694T>C (p.Tyr232His)
12	g.91055588A>T	CA386013543	KERA	c.694T>A (p.Tyr232Asn)
12	g.91055589A>C	CA386013544	KERA	c.693T>G (p.Asn231Lys)
12	g.91055589A>G	CA481306737	KERA	c.693T>C (p.Asn231=)
12	g.91055589A>T	CA386013545	KERA	c.693T>A (p.Asn231Lys)	COSMIC
12	g.91055590T>A	CA386013548	KERA	c.692A>T (p.Asn231Ile)
12	g.91055590T>C	CA386013547	KERA	c.692A>G (p.Asn231Ser)
12	g.91055590T>G	CA386013546	KERA	c.692A>C (p.Asn231Thr)

Number of alleles fetched