Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.91055556C>ACA386013473KERAc.726G>T (p.Leu242Phe)
12g.91055556C>GCA386013474KERAc.726G>C (p.Leu242Phe)
12g.91055556C>TCA481306632KERAc.726G>A (p.Leu242=)
12g.91055556_91055557delinsCACA2054259670KERAc.725_726delinsTG (p.Leu242=)
12g.91055557A>CCA386013475KERAc.725T>G (p.Leu242Trp)
12g.91055557A>GCA386013476KERAc.725T>C (p.Leu242Ser)
12g.91055557A>TCA386013477KERAc.725T>A (p.Leu242Ter)
12g.91055561dupCA2620149239KERAc.725dup (p.Leu242PhefsTer11)
gnomAD v4
12g.91055561delCA919143761KERAc.725del (p.Leu242Ter)
dbSNP gnomAD v4
12g.91055558A>CCA386013478KERAc.724T>G (p.Leu242Val)
12g.91055558A>GCA481306643KERAc.724T>C (p.Leu242=)
12g.91055558A>TCA386013479KERAc.724T>A (p.Leu242Met)
12g.91055559A>CCA386013480KERAc.723T>G (p.Phe241Leu)
12g.91055559A>GCA481306646KERAc.723T>C (p.Phe241=)
12g.91055559A>TCA386013481KERAc.723T>A (p.Phe241Leu)
12g.91055560A>CCA386013482KERAc.722T>G (p.Phe241Cys)
12g.91055560A>GCA386013483KERAc.722T>C (p.Phe241Ser)
12g.91055560A>TCA386013484KERAc.722T>A (p.Phe241Tyr)
12g.91055560_91055570delinsAAGGCCACTTTCA2054259671KERAc.712_722delinsAAAGTGGCCTT (p.Lys238=)
12g.91055561A>CCA386013487KERAc.721T>G (p.Phe241Val)
gnomAD v4
12g.91055561A>GCA386013485KERAc.721T>C (p.Phe241Leu)
12g.91055561A>TCA386013486KERAc.721T>A (p.Phe241Ile)
12g.91055564_91055573delCA6716522KERAc.712_721del (p.Lys238PhefsTer2)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055562G>ACA481306656KERAc.720C>T (p.Ala240=)
gnomAD v4 COSMIC
12g.91055562G>CCA481306657KERAc.720C>G (p.Ala240=)
12g.91055562G>TCA481306659KERAc.720C>A (p.Ala240=)
12g.91055563G>ACA6716523KERAc.719C>T (p.Ala240Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055563G>CCA386013488KERAc.719C>G (p.Ala240Gly)
dbSNP gnomAD v4
12g.91055563G=CA2054259672KERAc.719C= (p.Ala240=)
12g.91055563G>TCA6716524KERAc.719C>A (p.Ala240Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055564C>ACA386013489KERAc.718G>T (p.Ala240Ser)
COSMIC
12g.91055564C>GCA386013490KERAc.718G>C (p.Ala240Pro)
12g.91055564C>TCA386013491KERAc.718G>A (p.Ala240Thr)
12g.91055565C>ACA481306672KERAc.717G>T (p.Val239=)
12g.91055565C>GCA481306674KERAc.717G>C (p.Val239=)
12g.91055565C>TCA481306677KERAc.717G>A (p.Val239=)
12g.91055566A>CCA386013492KERAc.716T>G (p.Val239Gly)
12g.91055566A>GCA386013493KERAc.716T>C (p.Val239Ala)
12g.91055566A>TCA386013494KERAc.716T>A (p.Val239Glu)
12g.91055567C>ACA386013495KERAc.715G>T (p.Val239Leu)
12g.91055567C=CA2054259673KERAc.715G= (p.Val239=)
12g.91055567C>GCA386013496KERAc.715G>C (p.Val239Leu)
12g.91055567C>TCA6716525KERAc.715G>A (p.Val239Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055568T>ACA386013497KERAc.714A>T (p.Lys238Asn)
12g.91055568T>CCA481306690KERAc.714A>G (p.Lys238=)
12g.91055568T>GCA386013498KERAc.714A>C (p.Lys238Asn)
12g.91055569T>ACA386013499KERAc.713A>T (p.Lys238Ile)
12g.91055569T>CCA386013500KERAc.713A>G (p.Lys238Arg)
12g.91055569T>GCA6716526KERAc.713A>C (p.Lys238Thr)
dbSNP ExAC gnomAD v2
12g.91055569T=CA2054259674KERAc.713A= (p.Lys238=)
12g.91055570T>ACA386013501KERAc.712A>T (p.Lys238Ter)
12g.91055570T>CCA386013502KERAc.712A>G (p.Lys238Glu)
12g.91055570T>GCA386013503KERAc.712A>C (p.Lys238Gln)
12g.91055571A>CCA481306708KERAc.711T>G (p.Pro237=)
12g.91055571A>GCA481306706KERAc.711T>C (p.Pro237=)
12g.91055571A>TCA481306700KERAc.711T>A (p.Pro237=)
12g.91055572G>ACA241201317KERAc.710C>T (p.Pro237Leu)
dbSNP
12g.91055572G>CCA386013504KERAc.710C>G (p.Pro237Arg)
12g.91055572G=CA2054259675KERAc.710C= (p.Pro237=)
12g.91055572G>TCA386013505KERAc.710C>A (p.Pro237His)
12g.91055573G>ACA386013506KERAc.709C>T (p.Pro237Ser)
gnomAD v4
12g.91055573G>CCA386013508KERAc.709C>G (p.Pro237Ala)
12g.91055573G>TCA386013507KERAc.709C>A (p.Pro237Thr)
gnomAD v4
12g.91055574A>CCA386013509KERAc.708T>G (p.Ile236Met)
gnomAD v4
12g.91055574A>GCA481306713KERAc.708T>C (p.Ile236=)
12g.91055574A>TCA481306712KERAc.708T>A (p.Ile236=)
12g.91055575delCA2620149240KERAc.708del (p.Pro237LeufsTer6)
gnomAD v4
12g.91055575A=CA2054259676KERAc.707T= (p.Ile236=)
12g.91055575A>CCA386013510KERAc.707T>G (p.Ile236Ser)
12g.91055575A>GCA386013511KERAc.707T>C (p.Ile236Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055575A>TCA386013512KERAc.707T>A (p.Ile236Asn)
gnomAD v4
12g.91055576T>ACA386013513KERAc.706A>T (p.Ile236Phe)
12g.91055576T>CCA386013514KERAc.706A>G (p.Ile236Val)
12g.91055576T>GCA386013515KERAc.706A>C (p.Ile236Leu)
12g.91055577C>ACA481306714KERAc.705G>T (p.Val235=)
12g.91055577C>GCA481306715KERAc.705G>C (p.Val235=)
12g.91055577C>TCA481306717KERAc.705G>A (p.Val235=)
12g.91055578A=CA2054259677KERAc.704T= (p.Val235=)
12g.91055578A>CCA241201318KERAc.704T>G (p.Val235Gly)
dbSNP
12g.91055578A>GCA386013517KERAc.704T>C (p.Val235Ala)
COSMIC
12g.91055578A>TCA386013516KERAc.704T>A (p.Val235Glu)
12g.91055579C>ACA386013518KERAc.703G>T (p.Val235Leu)
dbSNP
12g.91055579C=CA2054259678KERAc.703G= (p.Val235=)
12g.91055579C>GCA386013520KERAc.703G>C (p.Val235Leu)
12g.91055579C>TCA386013519KERAc.703G>A (p.Val235Met)
12g.91055580A>CCA386013521KERAc.702T>G (p.Asn234Lys)
12g.91055580A>GCA481306726KERAc.702T>C (p.Asn234=)
gnomAD v4
12g.91055580A>TCA386013522KERAc.702T>A (p.Asn234Lys)
gnomAD v4
12g.91055581T>ACA386013523KERAc.701A>T (p.Asn234Ile)
12g.91055581T>CCA386013525KERAc.701A>G (p.Asn234Ser)
gnomAD v4
12g.91055581T>GCA386013524KERAc.701A>C (p.Asn234Thr)
12g.91055582T>ACA386013526KERAc.700A>T (p.Asn234Tyr)
12g.91055582T>CCA386013527KERAc.700A>G (p.Asn234Asp)
12g.91055582T>GCA386013528KERAc.700A>C (p.Asn234His)
12g.91055582_91055583delinsTACA2054259679KERAc.699_700delinsTA (p.Phe233=)
12g.91055583A>CCA386013529KERAc.699T>G (p.Phe233Leu)
12g.91055583A>GCA481306727KERAc.699T>C (p.Phe233=)
12g.91055583A>TCA386013530KERAc.699T>A (p.Phe233Leu)
12g.91055586delCA2054259680KERAc.699del (p.Phe233LeufsTer3)
dbSNP
12g.91055584A>CCA386013531KERAc.698T>G (p.Phe233Cys)
12g.91055584A>GCA386013532KERAc.698T>C (p.Phe233Ser)
12g.91055584A>TCA386013533KERAc.698T>A (p.Phe233Tyr)
12g.91055585A>CCA386013536KERAc.697T>G (p.Phe233Val)
12g.91055585A>GCA386013535KERAc.697T>C (p.Phe233Leu)
12g.91055585A>TCA386013534KERAc.697T>A (p.Phe233Ile)
12g.91055586A=CA2054259681KERAc.696T= (p.Tyr232=)
12g.91055586A>CCA6716527KERAc.696T>G (p.Tyr232Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055586A>GCA481306733KERAc.696T>C (p.Tyr232=)
dbSNP gnomAD v3 gnomAD v4
12g.91055586A>TCA386013537KERAc.696T>A (p.Tyr232Ter)
12g.91055587T>ACA386013538KERAc.695A>T (p.Tyr232Phe)
COSMIC
12g.91055587T>CCA386013539KERAc.695A>G (p.Tyr232Cys)
12g.91055587T>GCA386013540KERAc.695A>C (p.Tyr232Ser)
12g.91055588A=CA2054259682KERAc.694T= (p.Tyr232=)
12g.91055588A>CCA386013541KERAc.694T>G (p.Tyr232Asp)
dbSNP gnomAD v4
12g.91055588A>GCA386013542KERAc.694T>C (p.Tyr232His)
12g.91055588A>TCA386013543KERAc.694T>A (p.Tyr232Asn)
12g.91055589A>CCA386013544KERAc.693T>G (p.Asn231Lys)
12g.91055589A>GCA481306737KERAc.693T>C (p.Asn231=)
12g.91055589A>TCA386013545KERAc.693T>A (p.Asn231Lys)
COSMIC
12g.91055590T>ACA386013548KERAc.692A>T (p.Asn231Ile)
12g.91055590T>CCA386013547KERAc.692A>G (p.Asn231Ser)
12g.91055590T>GCA386013546KERAc.692A>C (p.Asn231Thr)
12g.91055591T>ACA386013551KERAc.691A>T (p.Asn231Tyr)
dbSNP
12g.91055591T>CCA386013549KERAc.691A>G (p.Asn231Asp)
12g.91055591T>GCA386013550KERAc.691A>C (p.Asn231His)
12g.91055591T=CA2054259683KERAc.691A= (p.Asn231=)
12g.91055592T>ACA386013552KERAc.690A>T (p.Glu230Asp)
12g.91055592T>CCA481306745KERAc.690A>G (p.Glu230=)
12g.91055592T>GCA386013553KERAc.690A>C (p.Glu230Asp)
12g.91055593T>ACA386013554KERAc.689A>T (p.Glu230Val)
12g.91055593T>CCA386013555KERAc.689A>G (p.Glu230Gly)
12g.91055593T>GCA386013556KERAc.689A>C (p.Glu230Ala)
12g.91055594C>ACA386013557KERAc.688G>T (p.Glu230Ter)
12g.91055594C=CA2054259684KERAc.688G= (p.Glu230=)
12g.91055594C>GCA386013558KERAc.688G>C (p.Glu230Gln)
12g.91055594C>TCA241201321KERAc.688G>A (p.Glu230Lys)
dbSNP
12g.91055595T>ACA481306761KERAc.687A>T (p.Pro229=)
12g.91055595T>CCA481306759KERAc.687A>G (p.Pro229=)
12g.91055595T>GCA481306760KERAc.687A>C (p.Pro229=)
12g.91055596G>ACA386013561KERAc.686C>T (p.Pro229Leu)
12g.91055596G>CCA386013559KERAc.686C>G (p.Pro229Arg)
12g.91055596G>TCA386013560KERAc.686C>A (p.Pro229Gln)
gnomAD v4
12g.91055597G>ACA386013562KERAc.685C>T (p.Pro229Ser)
12g.91055597G>CCA386013563KERAc.685C>G (p.Pro229Ala)
12g.91055597G>TCA386013564KERAc.685C>A (p.Pro229Thr)
12g.91055598T>ACA481306769KERAc.684A>T (p.Ile228=)
12g.91055598T>CCA386013565KERAc.684A>G (p.Ile228Met)
COSMIC
12g.91055598T>GCA481306771KERAc.684A>C (p.Ile228=)
12g.91055599A>CCA386013566KERAc.683T>G (p.Ile228Arg)
12g.91055599A>GCA386013567KERAc.683T>C (p.Ile228Thr)
12g.91055599A>TCA386013568KERAc.683T>A (p.Ile228Lys)
12g.91055600T>ACA386013569KERAc.682A>T (p.Ile228Leu)
gnomAD v4
12g.91055600T>CCA386013570KERAc.682A>G (p.Ile228Val)
12g.91055600T>GCA386013571KERAc.682A>C (p.Ile228Leu)
12g.91055601T>ACA481306488KERAc.681A>T (p.Gly227=)
12g.91055601T>CCA481306485KERAc.681A>G (p.Gly227=)
12g.91055601T>GCA481306487KERAc.681A>C (p.Gly227=)
12g.91055602C>ACA386013573KERAc.680G>T (p.Gly227Val)
12g.91055602C=CA2054259685KERAc.680G= (p.Gly227=)
12g.91055602C>GCA386013574KERAc.680G>C (p.Gly227Ala)
12g.91055602C>TCA386013572KERAc.680G>A (p.Gly227Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055603C>ACA386013575KERAc.679G>T (p.Gly227Ter)
12g.91055603C=CA2054259686KERAc.679G= (p.Gly227=)
12g.91055603C>GCA386013576KERAc.679G>C (p.Gly227Arg)
12g.91055603C>TCA6716528KERAc.679G>A (p.Gly227Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055604T>ACA386013577KERAc.678A>T (p.Glu226Asp)
gnomAD v4
12g.91055604T>CCA481306492KERAc.678A>G (p.Glu226=)
12g.91055604T>GCA386013578KERAc.678A>C (p.Glu226Asp)
12g.91055605T>ACA386013579KERAc.677A>T (p.Glu226Val)
12g.91055605T>CCA386013580KERAc.677A>G (p.Glu226Gly)
gnomAD v4
12g.91055605T>GCA386013581KERAc.677A>C (p.Glu226Ala)
12g.91055606C>ACA386013582KERAc.676G>T (p.Glu226Ter)
12g.91055606C>GCA386013583KERAc.676G>C (p.Glu226Gln)
12g.91055606C>TCA386013584KERAc.676G>A (p.Glu226Lys)
gnomAD v4
12g.91055607A>CCA386013585KERAc.675T>G (p.Ile225Met)
12g.91055607A>GCA481306498KERAc.675T>C (p.Ile225=)
12g.91055607A>TCA481306499KERAc.675T>A (p.Ile225=)
12g.91055608A=CA2054259687KERAc.674T= (p.Ile225=)
12g.91055608A>CCA386013588KERAc.674T>G (p.Ile225Ser)
12g.91055608A>GCA386013586KERAc.674T>C (p.Ile225Thr)
dbSNP gnomAD v2 gnomAD v4
12g.91055608A>TCA386013587KERAc.674T>A (p.Ile225Asn)
gnomAD v4
12g.91055609T>ACA386013589KERAc.673A>T (p.Ile225Phe)
12g.91055609T>CCA6716529KERAc.673A>G (p.Ile225Val)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055609T>GCA386013590KERAc.673A>C (p.Ile225Leu)
12g.91055609T=CA2054259688KERAc.673A= (p.Ile225=)
12g.91055610G>ACA481306507KERAc.672C>T (p.Ser224=)
12g.91055610G>CCA481306508KERAc.672C>G (p.Ser224=)
12g.91055610G>TCA481306509KERAc.672C>A (p.Ser224=)
12g.91055611G>ACA386013591KERAc.671C>T (p.Ser224Phe)
gnomAD v4
12g.91055611G>CCA386013592KERAc.671C>G (p.Ser224Cys)
COSMIC
12g.91055611G>TCA386013593KERAc.671C>A (p.Ser224Tyr)
12g.91055612A>CCA386013594KERAc.670T>G (p.Ser224Ala)
12g.91055612A>GCA386013595KERAc.670T>C (p.Ser224Pro)
12g.91055612A>TCA386013596KERAc.670T>A (p.Ser224Thr)
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)

Number of alleles fetched