Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.91055613A=CA2054259689KERAc.669T= (p.Asn223=)
12g.91055613A>CCA386013597KERAc.669T>G (p.Asn223Lys)
12g.91055613A>GCA481306514KERAc.669T>C (p.Asn223=)
dbSNP
12g.91055613A>TCA386013598KERAc.669T>A (p.Asn223Lys)
12g.91055614T>ACA386013599KERAc.668A>T (p.Asn223Ile)
12g.91055614T>CCA386013600KERAc.668A>G (p.Asn223Ser)
12g.91055614T>GCA386013601KERAc.668A>C (p.Asn223Thr)
12g.91055618_91055620delCA2620149241KERAc.666_668del (p.Asn223del)
gnomAD v4
12g.91055615T>ACA386013602KERAc.667A>T (p.Asn223Tyr)
12g.91055615T>CCA386013603KERAc.667A>G (p.Asn223Asp)
12g.91055615T>GCA386013604KERAc.667A>C (p.Asn223His)
12g.91055616G>ACA481306516KERAc.666C>T (p.Asn222=)
dbSNP
12g.91055616G>CCA386013605KERAc.666C>G (p.Asn222Lys)
12g.91055616G=CA2054259690KERAc.666C= (p.Asn222=)
12g.91055616G>TCA241201345KERAc.666C>A (p.Asn222Lys)
dbSNP
12g.91055617T>ACA386013606KERAc.665A>T (p.Asn222Ile)
12g.91055617T>CCA241201346KERAc.665A>G (p.Asn222Ser)
dbSNP gnomAD v4
12g.91055617T>GCA386013607KERAc.665A>C (p.Asn222Thr)
12g.91055617T=CA2054259691KERAc.665A= (p.Asn222=)
12g.91055618T>ACA386013608KERAc.664A>T (p.Asn222Tyr)
12g.91055618T>CCA386013610KERAc.664A>G (p.Asn222Asp)
12g.91055618T>GCA386013609KERAc.664A>C (p.Asn222His)
12g.91055619G>ACA481306522KERAc.663C>T (p.Asp221=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055619G>CCA386013611KERAc.663C>G (p.Asp221Glu)
12g.91055619G=CA2054259692KERAc.663C= (p.Asp221=)
12g.91055619G>TCA241201349KERAc.663C>A (p.Asp221Glu)
dbSNP
12g.91055620T>ACA386013612KERAc.662A>T (p.Asp221Val)
12g.91055620T>CCA386013613KERAc.662A>G (p.Asp221Gly)
dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.91055620T>GCA386013614KERAc.662A>C (p.Asp221Ala)
12g.91055620T=CA2054259693KERAc.662A= (p.Asp221=)
12g.91055621C>ACA386013615KERAc.661G>T (p.Asp221Tyr)
12g.91055621C=CA2054259694KERAc.661G= (p.Asp221=)
12g.91055621C>GCA6716530KERAc.661G>C (p.Asp221His)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055621C>TCA386013616KERAc.661G>A (p.Asp221Asn)
COSMIC
12g.91055622T>ACA386013617KERAc.660A>T (p.Leu220Phe)
12g.91055622T>CCA481306525KERAc.660A>G (p.Leu220=)
ClinVar
12g.91055622T>GCA386013618KERAc.660A>C (p.Leu220Phe)
12g.91055623A>CCA386013619KERAc.659T>G (p.Leu220Ter)
12g.91055623A>GCA386013620KERAc.659T>C (p.Leu220Ser)
gnomAD v4
12g.91055623A>TCA386013621KERAc.659T>A (p.Leu220Ter)
12g.91055627delCA2523232887KERAc.659del (p.Leu220Ter)
12g.91055624A>CCA386013622KERAc.658T>G (p.Leu220Val)
12g.91055624A>GCA481306528KERAc.658T>C (p.Leu220=)
gnomAD v4
12g.91055624A>TCA386013623KERAc.658T>A (p.Leu220Ile)
12g.91055625A>CCA386013624KERAc.657T>G (p.Phe219Leu)
12g.91055625A>GCA481306531KERAc.657T>C (p.Phe219=)
12g.91055625A>TCA386013625KERAc.657T>A (p.Phe219Leu)
12g.91055626A=CA2054259695KERAc.656T= (p.Phe219=)
12g.91055626A>CCA386013626KERAc.656T>G (p.Phe219Cys)
dbSNP gnomAD v3 gnomAD v4
12g.91055626A>GCA386013627KERAc.656T>C (p.Phe219Ser)
12g.91055626A>TCA386013628KERAc.656T>A (p.Phe219Tyr)
12g.91055627A>CCA386013629KERAc.655T>G (p.Phe219Val)
12g.91055627A>GCA386013630KERAc.655T>C (p.Phe219Leu)
12g.91055627A>TCA386013631KERAc.655T>A (p.Phe219Ile)
12g.91055628C>ACA386013632KERAc.654G>T (p.Leu218Phe)
12g.91055628C>GCA386013633KERAc.654G>C (p.Leu218Phe)
12g.91055628C>TCA481306542KERAc.654G>A (p.Leu218=)
12g.91055629A=CA2054259696KERAc.653T= (p.Leu218=)
12g.91055629A>CCA386013634KERAc.653T>G (p.Leu218Trp)
12g.91055629A>GCA386013635KERAc.653T>C (p.Leu218Ser)
dbSNP gnomAD v2 gnomAD v4
12g.91055629A>TCA386013636KERAc.653T>A (p.Leu218Ter)
12g.91055630A>CCA386013637KERAc.652T>G (p.Leu218Val)
12g.91055630A>GCA481306546KERAc.652T>C (p.Leu218=)
12g.91055630A>TCA386013638KERAc.652T>A (p.Leu218Met)
12g.91055631C>ACA386013639KERAc.651G>T (p.Gln217His)
12g.91055631C>GCA386013640KERAc.651G>C (p.Gln217His)
gnomAD v4
12g.91055631C>TCA481306549KERAc.651G>A (p.Gln217=)
12g.91055632T>ACA386013641KERAc.650A>T (p.Gln217Leu)
dbSNP gnomAD v4
12g.91055632T>CCA386013642KERAc.650A>G (p.Gln217Arg)
12g.91055632T>GCA386013643KERAc.650A>C (p.Gln217Pro)
COSMIC
12g.91055632T=CA2054259697KERAc.650A= (p.Gln217=)
12g.91055633G>ACA386013646KERAc.649C>T (p.Gln217Ter)
12g.91055633G>CCA386013644KERAc.649C>G (p.Gln217Glu)
12g.91055633G>TCA386013645KERAc.649C>A (p.Gln217Lys)
12g.91055634C>ACA386013647KERAc.648G>T (p.Met216Ile)
12g.91055634C>GCA386013648KERAc.648G>C (p.Met216Ile)
12g.91055634C>TCA386013649KERAc.648G>A (p.Met216Ile)
12g.91055635A>CCA386013650KERAc.647T>G (p.Met216Arg)
12g.91055635A>GCA386013651KERAc.647T>C (p.Met216Thr)
12g.91055635A>TCA386013652KERAc.647T>A (p.Met216Lys)
12g.91055636T>ACA386013653KERAc.646A>T (p.Met216Leu)
12g.91055636T>CCA386013654KERAc.646A>G (p.Met216Val)
dbSNP gnomAD v3 gnomAD v4
12g.91055636T>GCA386013655KERAc.646A>C (p.Met216Leu)
12g.91055636T=CA2054259698KERAc.646A= (p.Met216=)
12g.91055637T>ACA481306557KERAc.645A>T (p.Thr215=)
12g.91055637T>CCA481306558KERAc.645A>G (p.Thr215=)
12g.91055637T>GCA481306559KERAc.645A>C (p.Thr215=)
12g.91055638G>ACA386013656KERAc.644C>T (p.Thr215Ile)
gnomAD v4
12g.91055638G>CCA386013657KERAc.644C>G (p.Thr215Arg)
12g.91055638G=CA2054259699KERAc.644C= (p.Thr215=)
12g.91055638G>TCA118324KERAc.644C>A (p.Thr215Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055639T>ACA386013658KERAc.643A>T (p.Thr215Ser)
12g.91055639T>CCA386013660KERAc.643A>G (p.Thr215Ala)
gnomAD v4
12g.91055639T>GCA386013659KERAc.643A>C (p.Thr215Pro)
12g.91055639dupCA2620149242KERAc.643dup (p.Thr215AsnfsTer12)
gnomAD v4
12g.91055640A>CCA386013661KERAc.642T>G (p.Asn214Lys)
12g.91055640A>GCA481306565KERAc.642T>C (p.Asn214=)
12g.91055640A>TCA386013662KERAc.642T>A (p.Asn214Lys)
12g.91055641T>ACA386013663KERAc.641A>T (p.Asn214Ile)
12g.91055641T>CCA386013664KERAc.641A>G (p.Asn214Ser)
dbSNP gnomAD v4
12g.91055641T>GCA386013665KERAc.641A>C (p.Asn214Thr)
12g.91055641T=CA2054259700KERAc.641A= (p.Asn214=)
12g.91055642T>ACA386013666KERAc.640A>T (p.Asn214Tyr)
12g.91055642T>CCA386013667KERAc.640A>G (p.Asn214Asp)
12g.91055642T>GCA386013668KERAc.640A>C (p.Asn214His)
12g.91055643G>ACA481306575KERAc.639C>T (p.Ala213=)
COSMIC
12g.91055643G>CCA481306574KERAc.639C>G (p.Ala213=)
12g.91055643G>TCA481306572KERAc.639C>A (p.Ala213=)
12g.91055644G>ACA386013669KERAc.638C>T (p.Ala213Val)
12g.91055644G>CCA386013671KERAc.638C>G (p.Ala213Gly)
12g.91055644G>TCA386013670KERAc.638C>A (p.Ala213Asp)
12g.91055645C>ACA386013672KERAc.637G>T (p.Ala213Ser)
12g.91055645C>GCA386013673KERAc.637G>C (p.Ala213Pro)
12g.91055645C>TCA386013674KERAc.637G>A (p.Ala213Thr)
12g.91055646T>ACA481306581KERAc.636A>T (p.Pro212=)
12g.91055646T>CCA6716531KERAc.636A>G (p.Pro212=)
dbSNP ExAC gnomAD v2
12g.91055646T>GCA481306582KERAc.636A>C (p.Pro212=)
12g.91055646T=CA2054259701KERAc.636A= (p.Pro212=)
12g.91055647G>ACA386013675KERAc.635C>T (p.Pro212Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055647G>CCA386013676KERAc.635C>G (p.Pro212Arg)
12g.91055647G=CA2054259702KERAc.635C= (p.Pro212=)
12g.91055647G>TCA386013677KERAc.635C>A (p.Pro212Gln)
12g.91055648G>ACA386013678KERAc.634C>T (p.Pro212Ser)
12g.91055648G>CCA386013679KERAc.634C>G (p.Pro212Ala)
12g.91055648G>TCA386013680KERAc.634C>A (p.Pro212Thr)
12g.91055649T>ACA386013681KERAc.633A>T (p.Leu211Phe)
12g.91055649T>CCA481306586KERAc.633A>G (p.Leu211=)
12g.91055649T>GCA6716532KERAc.633A>C (p.Leu211Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055649T=CA2054259703KERAc.633A= (p.Leu211=)
12g.91055650A=CA2054259704KERAc.632T= (p.Leu211=)
12g.91055650A>CCA386013682KERAc.632T>G (p.Leu211Ter)
12g.91055650A>GCA386013684KERAc.632T>C (p.Leu211Ser)
dbSNP gnomAD v2
12g.91055650A>TCA386013683KERAc.632T>A (p.Leu211Ter)
12g.91055651A=CA2054259705KERAc.631T= (p.Leu211=)
12g.91055651A>CCA386013685KERAc.631T>G (p.Leu211Val)
12g.91055651A>GCA481306589KERAc.631T>C (p.Leu211=)
dbSNP gnomAD v4
12g.91055651A>TCA386013686KERAc.631T>A (p.Leu211Ile)
12g.91055652T>ACA386013687KERAc.630A>T (p.Arg210Ser)
gnomAD v4
12g.91055652T>CCA481306591KERAc.630A>G (p.Arg210=)
12g.91055652T>GCA386013688KERAc.630A>C (p.Arg210Ser)
12g.91055653C>ACA386013689KERAc.629G>T (p.Arg210Ile)
dbSNP gnomAD v4
12g.91055653C=CA2054259706KERAc.629G= (p.Arg210=)
12g.91055653C>GCA386013690KERAc.629G>C (p.Arg210Thr)
12g.91055653C>TCA386013691KERAc.629G>A (p.Arg210Lys)
12g.91055654T>ACA386013692KERAc.628A>T (p.Arg210Ter)
12g.91055654T>CCA386013693KERAc.628A>G (p.Arg210Gly)
gnomAD v4 COSMIC
12g.91055654T>GCA481306595KERAc.628A>C (p.Arg210=)
12g.91055655T>ACA481306597KERAc.627A>T (p.Pro209=)
12g.91055655T>CCA481306598KERAc.627A>G (p.Pro209=)
dbSNP
12g.91055655T>GCA481306599KERAc.627A>C (p.Pro209=)
12g.91055655T=CA2054259707KERAc.627A= (p.Pro209=)
12g.91055656G>ACA386013694KERAc.626C>T (p.Pro209Leu)
dbSNP
12g.91055656G>CCA386013696KERAc.626C>G (p.Pro209Arg)
12g.91055656G=CA2054259708KERAc.626C= (p.Pro209=)
12g.91055656G>TCA386013695KERAc.626C>A (p.Pro209Gln)
12g.91055657G>ACA386013697KERAc.625C>T (p.Pro209Ser)
COSMIC
12g.91055657G>CCA386013698KERAc.625C>G (p.Pro209Ala)
12g.91055657G>TCA386013699KERAc.625C>A (p.Pro209Thr)
12g.91055658A=CA2054259709KERAc.624T= (p.Pro208=)
12g.91055658A>CCA481306604KERAc.624T>G (p.Pro208=)
12g.91055658A>GCA481306605KERAc.624T>C (p.Pro208=)
dbSNP
12g.91055658A>TCA481306606KERAc.624T>A (p.Pro208=)
12g.91055659G>ACA386013700KERAc.623C>T (p.Pro208Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055659G>CCA386013701KERAc.623C>G (p.Pro208Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.91055659G=CA2054259710KERAc.623C= (p.Pro208=)
12g.91055659G>TCA6716533KERAc.623C>A (p.Pro208His)
dbSNP ExAC
12g.91055659_91055660delCA2620149243KERAc.622_623del (p.Pro208SerfsTer18)
gnomAD v4
12g.91055660G>ACA6716534KERAc.622C>T (p.Pro208Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055660G>CCA386013702KERAc.622C>G (p.Pro208Ala)
12g.91055660G=CA2054259711KERAc.622C= (p.Pro208=)
12g.91055660G>TCA386013703KERAc.622C>A (p.Pro208Thr)
12g.91055661C>ACA386013706KERAc.621G>T (p.Met207Ile)
12g.91055661C=CA2054259712KERAc.621G= (p.Met207=)
12g.91055661C>GCA386013704KERAc.621G>C (p.Met207Ile)
dbSNP
12g.91055661C>TCA386013705KERAc.621G>A (p.Met207Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055662A>CCA386013707KERAc.620T>G (p.Met207Arg)
12g.91055662A>GCA386013708KERAc.620T>C (p.Met207Thr)
12g.91055662A>TCA386013709KERAc.620T>A (p.Met207Lys)
12g.91055663T>ACA386013710KERAc.619A>T (p.Met207Leu)
12g.91055663T>CCA386013711KERAc.619A>G (p.Met207Val)
dbSNP
12g.91055663T>GCA386013712KERAc.619A>C (p.Met207Leu)
12g.91055663T=CA2054259713KERAc.619A= (p.Met207=)
12g.91055664A=CA2054259714KERAc.618T= (p.Asn206=)
12g.91055664A>CCA386013713KERAc.618T>G (p.Asn206Lys)
12g.91055664A>GCA6716535KERAc.618T>C (p.Asn206=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055664A>TCA386013714KERAc.618T>A (p.Asn206Lys)
12g.91055665T>ACA386013716KERAc.617A>T (p.Asn206Ile)
ClinVar COSMIC
12g.91055665T>CCA386013717KERAc.617A>G (p.Asn206Ser)
gnomAD v4
12g.91055665T>GCA386013715KERAc.617A>C (p.Asn206Thr)
12g.91055666T>ACA386013718KERAc.616A>T (p.Asn206Tyr)
12g.91055666T>CCA6716536KERAc.616A>G (p.Asn206Asp)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.91055666T>GCA386013719KERAc.616A>C (p.Asn206His)
gnomAD v4
12g.91055666T=CA2054259715KERAc.616A= (p.Asn206=)
12g.91055667C>ACA386013720KERAc.615G>T (p.Arg205Ser)
COSMIC
12g.91055667C=CA2054259716KERAc.615G= (p.Arg205=)
12g.91055667C>GCA386013721KERAc.615G>C (p.Arg205Ser)
12g.91055667C>TCA6716537KERAc.615G>A (p.Arg205=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055668C>ACA386013722KERAc.614G>T (p.Arg205Met)
12g.91055668C=CA2054259717KERAc.614G= (p.Arg205=)
12g.91055668C>GCA386013723KERAc.614G>C (p.Arg205Thr)
12g.91055668C>TCA241201375KERAc.614G>A (p.Arg205Lys)
dbSNP gnomAD v4
12g.91055669T>ACA386013724KERAc.613A>T (p.Arg205Trp)
12g.91055669T>CCA386013725KERAc.613A>G (p.Arg205Gly)
12g.91055669T>GCA241201380KERAc.613A>C (p.Arg205=)
dbSNP gnomAD v4
12g.91055669T=CA2054259718KERAc.613A= (p.Arg205=)
12g.91055670C>ACA481306623KERAc.612G>T (p.Leu204=)
12g.91055670C>GCA481306624KERAc.612G>C (p.Leu204=)
12g.91055670C>TCA481306626KERAc.612G>A (p.Leu204=)
12g.91055671A>CCA386013726KERAc.611T>G (p.Leu204Arg)
12g.91055671A>GCA386013727KERAc.611T>C (p.Leu204Pro)
12g.91055671A>TCA386013728KERAc.611T>A (p.Leu204Gln)
12g.91055672G>ACA481306637KERAc.610C>T (p.Leu204=)
12g.91055672G>CCA386013729KERAc.610C>G (p.Leu204Val)
12g.91055672G>TCA386013730KERAc.610C>A (p.Leu204Met)
12g.91055673G>ACA481306639KERAc.609C>T (p.Ala203=)
12g.91055673G>CCA481306641KERAc.609C>G (p.Ala203=)
12g.91055673G>TCA481306642KERAc.609C>A (p.Ala203=)
12g.91055674G>ACA386013731KERAc.608C>T (p.Ala203Val)
dbSNP gnomAD v2 gnomAD v4
12g.91055674G>CCA386013732KERAc.608C>G (p.Ala203Gly)
12g.91055674G=CA2054259719KERAc.608C= (p.Ala203=)
12g.91055674G>TCA386013733KERAc.608C>A (p.Ala203Asp)
dbSNP gnomAD v2 gnomAD v4
12g.91055675C>ACA386013734KERAc.607G>T (p.Ala203Ser)
12g.91055675C=CA2054259720KERAc.607G= (p.Ala203=)
12g.91055675C>GCA386013735KERAc.607G>C (p.Ala203Pro)
12g.91055675C>TCA386013736KERAc.607G>A (p.Ala203Thr)
dbSNP gnomAD v2 gnomAD v4
12g.91055676A=CA2054259722KERAc.606T= (p.Asn202=)
12g.91055676A>CCA386013737KERAc.606T>G (p.Asn202Lys)
12g.91055676A>GCA481306655KERAc.606T>C (p.Asn202=)
dbSNP gnomAD v2 gnomAD v4
12g.91055676A>TCA386013738KERAc.606T>A (p.Asn202Lys)
12g.91055677T>ACA386013741KERAc.605A>T (p.Asn202Ile)
12g.91055677T>CCA386013740KERAc.605A>G (p.Asn202Ser)
dbSNP gnomAD v4
12g.91055677T>GCA386013739KERAc.605A>C (p.Asn202Thr)
12g.91055678T>ACA386013742KERAc.604A>T (p.Asn202Tyr)
12g.91055678T>CCA386013743KERAc.604A>G (p.Asn202Asp)
12g.91055678T>GCA386013744KERAc.604A>C (p.Asn202His)
12g.91055679C>ACA386013745KERAc.603G>T (p.Lys201Asn)
12g.91055679C>GCA386013746KERAc.603G>C (p.Lys201Asn)
12g.91055679C>TCA481306666KERAc.603G>A (p.Lys201=)
12g.91055680T>ACA386013747KERAc.602A>T (p.Lys201Met)
12g.91055680T>CCA386013748KERAc.602A>G (p.Lys201Arg)
12g.91055680T>GCA386013749KERAc.602A>C (p.Lys201Thr)
12g.91055681T>ACA386013750KERAc.601A>T (p.Lys201Ter)
12g.91055681T>CCA386013751KERAc.601A>G (p.Lys201Glu)
12g.91055681T>GCA386013752KERAc.601A>C (p.Lys201Gln)
12g.91055682G>ACA481306678KERAc.600C>T (p.Ala200=)
dbSNP gnomAD v2 gnomAD v4
12g.91055682G>CCA481306683KERAc.600C>G (p.Ala200=)
12g.91055682G=CA2054259723KERAc.600C= (p.Ala200=)
12g.91055682G>TCA481306680KERAc.600C>A (p.Ala200=)
12g.91055683G>ACA386013753KERAc.599C>T (p.Ala200Val)
gnomAD v4
12g.91055683G>CCA386013755KERAc.599C>G (p.Ala200Gly)
12g.91055683G>TCA386013754KERAc.599C>A (p.Ala200Asp)
gnomAD v4
12g.91055684C>ACA386013756KERAc.598G>T (p.Ala200Ser)
12g.91055684C>GCA386013757KERAc.598G>C (p.Ala200Pro)
12g.91055684C>TCA386013758KERAc.598G>A (p.Ala200Thr)
12g.91055685C>ACA386013759KERAc.597G>T (p.Met199Ile)
12g.91055685C=CA2054259729KERAc.597G= (p.Met199=)
12g.91055685C>GCA386013760KERAc.597G>C (p.Met199Ile)
12g.91055685C>TCA6716538KERAc.597G>A (p.Met199Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055686A=CA2054259735KERAc.596T= (p.Met199=)
12g.91055686A>CCA386013761KERAc.596T>G (p.Met199Arg)
12g.91055686A>GCA6716539KERAc.596T>C (p.Met199Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055686A>TCA386013762KERAc.596T>A (p.Met199Lys)
12g.91055687T>ACA386013765KERAc.595A>T (p.Met199Leu)
12g.91055687T>CCA386013764KERAc.595A>G (p.Met199Val)
12g.91055687T>GCA386013763KERAc.595A>C (p.Met199Leu)
12g.91055688G>ACA481306698KERAc.594C>T (p.Asn198=)
dbSNP gnomAD v2 gnomAD v4
12g.91055688G>CCA386013767KERAc.594C>G (p.Asn198Lys)
gnomAD v4
12g.91055688G=CA2054259737KERAc.594C= (p.Asn198=)
12g.91055688G>TCA386013766KERAc.594C>A (p.Asn198Lys)
12g.91055689T>ACA386013770KERAc.593A>T (p.Asn198Ile)
gnomAD v4
12g.91055689T>CCA386013768KERAc.593A>G (p.Asn198Ser)
12g.91055689T>GCA386013769KERAc.593A>C (p.Asn198Thr)
12g.91055691delCA2510570708KERAc.593del (p.Asn198ThrfsTer7)
12g.91055690T>ACA386013771KERAc.592A>T (p.Asn198Tyr)
dbSNP gnomAD v4
12g.91055690T>CCA386013772KERAc.592A>G (p.Asn198Asp)
12g.91055690T>GCA386013773KERAc.592A>C (p.Asn198His)
12g.91055690T=CA2054259739KERAc.592A= (p.Asn198=)
12g.91055691T>ACA481306709KERAc.591A>T (p.Leu197=)
12g.91055691T>CCA481306705KERAc.591A>G (p.Leu197=)
12g.91055691T>GCA481306707KERAc.591A>C (p.Leu197=)
12g.91055692A=CA2054259741KERAc.590T= (p.Leu197=)
12g.91055692A>CCA386013774KERAc.590T>G (p.Leu197Arg)
12g.91055692A>GCA6716540KERAc.590T>C (p.Leu197Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055692A>TCA386013775KERAc.590T>A (p.Leu197Gln)
12g.91055693G>ACA481306710KERAc.589C>T (p.Leu197=)
12g.91055693G>CCA6716541KERAc.589C>G (p.Leu197Val)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055693G=CA2054259744KERAc.589C= (p.Leu197=)
12g.91055693G>TCA386013776KERAc.589C>A (p.Leu197Ile)
12g.91055694C>ACA386013777KERAc.588G>T (p.Gln196His)
12g.91055694C=CA2054259747KERAc.588G= (p.Gln196=)
12g.91055694C>GCA6716542KERAc.588G>C (p.Gln196His)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055694C>TCA481306716KERAc.588G>A (p.Gln196=)
12g.91055695T>ACA386013778KERAc.587A>T (p.Gln196Leu)
12g.91055695T>CCA386013779KERAc.587A>G (p.Gln196Arg)
12g.91055695T>GCA386013780KERAc.587A>C (p.Gln196Pro)
gnomAD v4
12g.91055696G>ACA386013781KERAc.586C>T (p.Gln196Ter)
dbSNP gnomAD v2 gnomAD v4
12g.91055696G>CCA386013782KERAc.586C>G (p.Gln196Glu)
12g.91055696G=CA2054259751KERAc.586C= (p.Gln196=)
12g.91055696G>TCA386013783KERAc.586C>A (p.Gln196Lys)
12g.91055697C>ACA386013784KERAc.585G>T (p.Met195Ile)
gnomAD v4
12g.91055697C=CA2054259755KERAc.585G= (p.Met195=)
12g.91055697C>GCA386013785KERAc.585G>C (p.Met195Ile)
12g.91055697C>TCA386013786KERAc.585G>A (p.Met195Ile)
dbSNP gnomAD v2 gnomAD v4
12g.91055698A=CA2054259758KERAc.584T= (p.Met195=)
12g.91055698A>CCA386013788KERAc.584T>G (p.Met195Arg)
12g.91055698A>GCA6716543KERAc.584T>C (p.Met195Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055698A>TCA386013787KERAc.584T>A (p.Met195Lys)
12g.91055699T>ACA386013789KERAc.583A>T (p.Met195Leu)
12g.91055699T>CCA386013790KERAc.583A>G (p.Met195Val)
12g.91055699T>GCA386013791KERAc.583A>C (p.Met195Leu)
gnomAD v4
12g.91055700G>ACA481306729KERAc.582C>T (p.Leu194=)
12g.91055700G>CCA481306730KERAc.582C>G (p.Leu194=)
12g.91055700G>TCA481306731KERAc.582C>A (p.Leu194=)
12g.91055701A>CCA386013792KERAc.581T>G (p.Leu194Arg)
12g.91055701A>GCA386013793KERAc.581T>C (p.Leu194Pro)
gnomAD v4
12g.91055701A>TCA386013794KERAc.581T>A (p.Leu194His)
12g.91055702G>ACA386013795KERAc.580C>T (p.Leu194Phe)
gnomAD v4
12g.91055702G>CCA386013796KERAc.580C>G (p.Leu194Val)
12g.91055702G>TCA386013797KERAc.580C>A (p.Leu194Ile)
12g.91055703A>CCA386013798KERAc.579T>G (p.Asn193Lys)
12g.91055703A>GCA481306734KERAc.579T>C (p.Asn193=)
dbSNP
12g.91055703A>TCA386013799KERAc.579T>A (p.Asn193Lys)
12g.91055704T>ACA386013802KERAc.578A>T (p.Asn193Ile)
12g.91055704T>CCA386013800KERAc.578A>G (p.Asn193Ser)
dbSNP gnomAD v2 gnomAD v4
12g.91055704T>GCA386013801KERAc.578A>C (p.Asn193Thr)
12g.91055704T=CA2054259763KERAc.578A= (p.Asn193=)
12g.91055705T>ACA386013803KERAc.577A>T (p.Asn193Tyr)
12g.91055705T>CCA386013804KERAc.577A>G (p.Asn193Asp)
dbSNP gnomAD v3 gnomAD v4
12g.91055705T>GCA386013805KERAc.577A>C (p.Asn193His)
COSMIC
12g.91055705T=CA2054259767KERAc.577A= (p.Asn193=)
12g.91055706C>ACA386013806KERAc.576G>T (p.Lys192Asn)
12g.91055706C=CA2054259770KERAc.576G= (p.Lys192=)
12g.91055706C>GCA386013807KERAc.576G>C (p.Lys192Asn)
dbSNP gnomAD v3 gnomAD v4
12g.91055706C>TCA481306744KERAc.576G>A (p.Lys192=)
12g.91055707T>ACA386013808KERAc.575A>T (p.Lys192Met)
12g.91055707T>CCA386013809KERAc.575A>G (p.Lys192Arg)
12g.91055707T>GCA386013810KERAc.575A>C (p.Lys192Thr)
12g.91055708T>ACA386013811KERAc.574A>T (p.Lys192Ter)
12g.91055708T>CCA386013812KERAc.574A>G (p.Lys192Glu)
12g.91055708T>GCA386013813KERAc.574A>C (p.Lys192Gln)
12g.91055709G>ACA481306747KERAc.573C>T (p.Leu191=)
12g.91055709G>CCA481306750KERAc.573C>G (p.Leu191=)
12g.91055709G>TCA481306752KERAc.573C>A (p.Leu191=)
12g.91055710A>CCA386013815KERAc.572T>G (p.Leu191Arg)
12g.91055710A>GCA386013816KERAc.572T>C (p.Leu191Pro)
12g.91055710A>TCA386013814KERAc.572T>A (p.Leu191His)
12g.91055711G>ACA386013817KERAc.571C>T (p.Leu191Phe)
12g.91055711G>CCA386013819KERAc.571C>G (p.Leu191Val)
12g.91055711G>TCA386013818KERAc.571C>A (p.Leu191Ile)
12g.91055712T>ACA6716544KERAc.570A>T (p.Gly190=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055712T>CCA481306763KERAc.570A>G (p.Gly190=)
gnomAD v4
12g.91055712T>GCA481306764KERAc.570A>C (p.Gly190=)
12g.91055712T=CA2054259773KERAc.570A= (p.Gly190=)
12g.91055713C>ACA386013820KERAc.569G>T (p.Gly190Val)
12g.91055713C>GCA386013821KERAc.569G>C (p.Gly190Ala)
12g.91055713C>TCA386013822KERAc.569G>A (p.Gly190Glu)

Number of alleles fetched