Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.91055878T>ACA386014179KERAc.404A>T (p.Glu135Val)
12g.91055878T>CCA386014180KERAc.404A>G (p.Glu135Gly)
12g.91055878T>GCA386014181KERAc.404A>C (p.Glu135Ala)
12g.91055879C>ACA386014182KERAc.403G>T (p.Glu135Ter)
12g.91055879C=CA2054259997KERAc.403G= (p.Glu135=)
12g.91055879C>GCA386014183KERAc.403G>C (p.Glu135Gln)
dbSNP gnomAD v3 gnomAD v4
12g.91055879C>TCA386014184KERAc.403G>A (p.Glu135Lys)
12g.91055880C>ACA386014185KERAc.402G>T (p.Glu134Asp)
12g.91055880C=CA2054260000KERAc.402G= (p.Glu134=)
12g.91055880C>GCA386014186KERAc.402G>C (p.Glu134Asp)
12g.91055880C>TCA241201471KERAc.402G>A (p.Glu134=)
dbSNP COSMIC
12g.91055881T>ACA386014189KERAc.401A>T (p.Glu134Val)
12g.91055881T>CCA386014187KERAc.401A>G (p.Glu134Gly)
12g.91055881T>GCA386014188KERAc.401A>C (p.Glu134Ala)
12g.91055882C>ACA386014190KERAc.400G>T (p.Glu134Ter)
dbSNP gnomAD v2 gnomAD v4
12g.91055882C=CA2054260003KERAc.400G= (p.Glu134=)
12g.91055882C>GCA386014191KERAc.400G>C (p.Glu134Gln)
12g.91055882C>TCA386014192KERAc.400G>A (p.Glu134Lys)
12g.91055883T>ACA481306723KERAc.399A>T (p.Leu133=)
12g.91055883T>CCA481306722KERAc.399A>G (p.Leu133=)
gnomAD v4
12g.91055883T>GCA481306721KERAc.399A>C (p.Leu133=)
12g.91055884A>CCA386014193KERAc.398T>G (p.Leu133Arg)
12g.91055884A>GCA386014194KERAc.398T>C (p.Leu133Pro)
12g.91055884A>TCA386014195KERAc.398T>A (p.Leu133Gln)
12g.91055885G>ACA241201472KERAc.397C>T (p.Leu133=)
dbSNP
12g.91055885G>CCA386014196KERAc.397C>G (p.Leu133Val)
12g.91055885G=CA2054260005KERAc.397C= (p.Leu133=)
12g.91055885G>TCA386014197KERAc.397C>A (p.Leu133Ile)
12g.91055886C>ACA386014198KERAc.396G>T (p.Glu132Asp)
12g.91055886C>GCA386014199KERAc.396G>C (p.Glu132Asp)
12g.91055886C>TCA481306728KERAc.396G>A (p.Glu132=)
12g.91055887T>ACA386014201KERAc.395A>T (p.Glu132Val)
12g.91055887T>CCA386014202KERAc.395A>G (p.Glu132Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055887T>GCA386014200KERAc.395A>C (p.Glu132Ala)
12g.91055887T=CA2054260007KERAc.395A= (p.Glu132=)
12g.91055888C>ACA386014203KERAc.394G>T (p.Glu132Ter)
12g.91055888C>GCA386014205KERAc.394G>C (p.Glu132Gln)
12g.91055888C>TCA386014204KERAc.394G>A (p.Glu132Lys)
12g.91055889A=CA2054260010KERAc.393T= (p.Asn131=)
12g.91055889A>CCA386014206KERAc.393T>G (p.Asn131Lys)
12g.91055889A>GCA481306740KERAc.393T>C (p.Asn131=)
dbSNP gnomAD v2
12g.91055889A>TCA386014207KERAc.393T>A (p.Asn131Lys)
12g.91055890T>ACA386014208KERAc.392A>T (p.Asn131Ile)
12g.91055890T>CCA386014209KERAc.392A>G (p.Asn131Ser)
ClinVar
12g.91055890T>GCA386014210KERAc.392A>C (p.Asn131Thr)
gnomAD v4
12g.91055891T>ACA386014211KERAc.391A>T (p.Asn131Tyr)
12g.91055891T>CCA144356KERAc.391A>G (p.Asn131Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055891T>GCA386014212KERAc.391A>C (p.Asn131His)
12g.91055891T=CA2054260014KERAc.391A= (p.Asn131=)
12g.91055892A=CA2054260017KERAc.390T= (p.Asp130=)
12g.91055892A>CCA386014213KERAc.390T>G (p.Asp130Glu)
12g.91055892A>GCA6716577KERAc.390T>C (p.Asp130=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055892A>TCA386014214KERAc.390T>A (p.Asp130Glu)
12g.91055893T>ACA386014217KERAc.389A>T (p.Asp130Val)
12g.91055893T>CCA386014215KERAc.389A>G (p.Asp130Gly)
12g.91055893T>GCA386014216KERAc.389A>C (p.Asp130Ala)
12g.91055894C>ACA386014218KERAc.388G>T (p.Asp130Tyr)
12g.91055894C>GCA386014219KERAc.388G>C (p.Asp130His)
12g.91055894C>TCA386014220KERAc.388G>A (p.Asp130Asn)
12g.91055895T>ACA386014221KERAc.387A>T (p.Glu129Asp)
12g.91055895T>CCA481306756KERAc.387A>G (p.Glu129=)
12g.91055895T>GCA386014222KERAc.387A>C (p.Glu129Asp)
dbSNP gnomAD v2 gnomAD v4
12g.91055895T=CA2054260021KERAc.387A= (p.Glu129=)
12g.91055896T>ACA386014223KERAc.386A>T (p.Glu129Val)
12g.91055896T>CCA386014224KERAc.386A>G (p.Glu129Gly)
12g.91055896T>GCA386014225KERAc.386A>C (p.Glu129Ala)
12g.91055897C>ACA386014228KERAc.385G>T (p.Glu129Ter)
12g.91055897C>GCA386014227KERAc.385G>C (p.Glu129Gln)
12g.91055897C>TCA386014226KERAc.385G>A (p.Glu129Lys)
12g.91055898C>ACA481306767KERAc.384G>T (p.Leu128=)
12g.91055898C>GCA481306768KERAc.384G>C (p.Leu128=)
12g.91055898C>TCA481306770KERAc.384G>A (p.Leu128=)
12g.91055899A=CA2054260024KERAc.383T= (p.Leu128=)
12g.91055899A>CCA386014229KERAc.383T>G (p.Leu128Arg)
12g.91055899A>GCA386014230KERAc.383T>C (p.Leu128Pro)
dbSNP gnomAD v2 gnomAD v4
12g.91055899A>TCA386014231KERAc.383T>A (p.Leu128Gln)
12g.91055900G>ACA481306778KERAc.382C>T (p.Leu128=)
12g.91055900G>CCA386014232KERAc.382C>G (p.Leu128Val)
12g.91055900G=CA2054260027KERAc.382C= (p.Leu128=)
12g.91055900G>TCA241201488KERAc.382C>A (p.Leu128Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.91055901A>CCA386014233KERAc.381T>G (p.Phe127Leu)
12g.91055901A>GCA481306782KERAc.381T>C (p.Phe127=)
12g.91055901A>TCA386014234KERAc.381T>A (p.Phe127Leu)
12g.91055902A>CCA386014235KERAc.380T>G (p.Phe127Cys)
12g.91055902A>GCA386014236KERAc.380T>C (p.Phe127Ser)
12g.91055902A>TCA386014237KERAc.380T>A (p.Phe127Tyr)
12g.91055903A>CCA386014240KERAc.379T>G (p.Phe127Val)
12g.91055903A>GCA386014238KERAc.379T>C (p.Phe127Leu)
12g.91055903A>TCA386014239KERAc.379T>A (p.Phe127Ile)
12g.91055904T>ACA386014241KERAc.378A>T (p.Leu126Phe)
12g.91055904T>CCA481306789KERAc.378A>G (p.Leu126=)
12g.91055904T>GCA386014242KERAc.378A>C (p.Leu126Phe)
12g.91055905A=CA2054260030KERAc.377T= (p.Leu126=)
12g.91055905A>CCA386014243KERAc.377T>G (p.Leu126Ter)
12g.91055905A>GCA386014244KERAc.377T>C (p.Leu126Ser)
12g.91055905A>TCA386014245KERAc.377T>A (p.Leu126Ter)
dbSNP gnomAD v2 gnomAD v4
12g.91055909_91055911delCA2695217071KERAc.375_377del (p.Phe125del)
12g.91055906A=CA2054260031KERAc.376T= (p.Leu126=)
12g.91055906A>CCA386014246KERAc.376T>G (p.Leu126Val)
12g.91055906A>GCA481306796KERAc.376T>C (p.Leu126=)
dbSNP
12g.91055906A>TCA386014247KERAc.376T>A (p.Leu126Ile)
12g.91055907G>ACA481306799KERAc.375C>T (p.Phe125=)
gnomAD v4
12g.91055907G>CCA6716578KERAc.375C>G (p.Phe125Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055907G=CA2054260033KERAc.375C= (p.Phe125=)
12g.91055907G>TCA386014248KERAc.375C>A (p.Phe125Leu)
12g.91055908A>CCA386014250KERAc.374T>G (p.Phe125Cys)
12g.91055908A>GCA386014251KERAc.374T>C (p.Phe125Ser)
12g.91055908A>TCA386014249KERAc.374T>A (p.Phe125Tyr)
12g.91055909A>CCA386014254KERAc.373T>G (p.Phe125Val)
12g.91055909A>GCA386014252KERAc.373T>C (p.Phe125Leu)
12g.91055909A>TCA386014253KERAc.373T>A (p.Phe125Ile)
12g.91055910G>ACA481306806KERAc.372C>T (p.Leu124=)
12g.91055910G>CCA241201494KERAc.372C>G (p.Leu124=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055910G=CA2054260035KERAc.372C= (p.Leu124=)
12g.91055910G>TCA481306805KERAc.372C>A (p.Leu124=)
12g.91055911A>CCA386014255KERAc.371T>G (p.Leu124Arg)
12g.91055911A>GCA386014256KERAc.371T>C (p.Leu124Pro)
12g.91055911A>TCA386014257KERAc.371T>A (p.Leu124His)
12g.91055912G>ACA6716580KERAc.370C>T (p.Leu124Phe)
dbSNP ExAC gnomAD v4
12g.91055912G>CCA386014258KERAc.370C>G (p.Leu124Val)
dbSNP gnomAD v4
12g.91055912G=CA2054260041KERAc.370C= (p.Leu124=)
12g.91055912G>TCA6716579KERAc.370C>A (p.Leu124Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055913C>ACA386014259KERAc.369G>T (p.Leu123Phe)
12g.91055913C>GCA386014260KERAc.369G>C (p.Leu123Phe)
12g.91055913C>TCA481306811KERAc.369G>A (p.Leu123=)
12g.91055914A>CCA386014263KERAc.368T>G (p.Leu123Trp)
12g.91055914A>GCA386014262KERAc.368T>C (p.Leu123Ser)
12g.91055914A>TCA386014261KERAc.368T>A (p.Leu123Ter)
12g.91055915A=CA2054260046KERAc.367T= (p.Leu123=)
12g.91055915A>CCA6716581KERAc.367T>G (p.Leu123Val)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055915A>GCA481306814KERAc.367T>C (p.Leu123=)
dbSNP gnomAD v3 gnomAD v4
12g.91055915A>TCA386014264KERAc.367T>A (p.Leu123Met)
dbSNP
12g.91055915_91055918delinsACTTCA2054260051KERAc.364_367delinsAAGT (p.Lys122=)
12g.91055916C>ACA386014265KERAc.366G>T (p.Lys122Asn)
12g.91055916C>GCA386014266KERAc.366G>C (p.Lys122Asn)
12g.91055916C>TCA481306820KERAc.366G>A (p.Lys122=)
gnomAD v4
12g.91055920_91055922delCA6716582KERAc.364_366del (p.Lys122del)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055917T>ACA386014267KERAc.365A>T (p.Lys122Met)
12g.91055917T>CCA386014268KERAc.365A>G (p.Lys122Arg)
12g.91055917T>GCA386014269KERAc.365A>C (p.Lys122Thr)
12g.91055918T>ACA386014270KERAc.364A>T (p.Lys122Ter)
12g.91055918T>CCA386014271KERAc.364A>G (p.Lys122Glu)
12g.91055918T>GCA386014272KERAc.364A>C (p.Lys122Gln)
dbSNP gnomAD v4
12g.91055918T=CA2054260055KERAc.364A= (p.Lys122=)
12g.91055919C>ACA386014273KERAc.363G>T (p.Lys121Asn)
COSMIC
12g.91055919C>GCA386014274KERAc.363G>C (p.Lys121Asn)
gnomAD v4
12g.91055919C>TCA481306829KERAc.363G>A (p.Lys121=)
gnomAD v4
12g.91055920T>ACA386014275KERAc.362A>T (p.Lys121Met)
12g.91055920T>CCA386014276KERAc.362A>G (p.Lys121Arg)
12g.91055920T>GCA386014277KERAc.362A>C (p.Lys121Thr)
12g.91055921T>ACA386014278KERAc.361A>T (p.Lys121Ter)
12g.91055921T>CCA386014279KERAc.361A>G (p.Lys121Glu)
12g.91055921T>GCA386014280KERAc.361A>C (p.Lys121Gln)
12g.91055922C>ACA481306833KERAc.360G>T (p.Leu120=)
12g.91055922C>GCA481306835KERAc.360G>C (p.Leu120=)
12g.91055922C>TCA481306836KERAc.360G>A (p.Leu120=)
gnomAD v4
12g.91055923A=CA2054260059KERAc.359T= (p.Leu120=)
12g.91055923A>CCA386014281KERAc.359T>G (p.Leu120Arg)
12g.91055923A>GCA6716583KERAc.359T>C (p.Leu120Pro)
dbSNP ExAC gnomAD v3 gnomAD v4
12g.91055923A>TCA386014282KERAc.359T>A (p.Leu120Gln)
12g.91055924G>ACA481306837KERAc.358C>T (p.Leu120=)
dbSNP gnomAD v2 gnomAD v4
12g.91055924G>CCA6716584KERAc.358C>G (p.Leu120Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055924G=CA2054260063KERAc.358C= (p.Leu120=)
12g.91055924G>TCA386014283KERAc.358C>A (p.Leu120Met)
12g.91055925C>ACA386014285KERAc.357G>T (p.Gln119His)
12g.91055925C>GCA386014284KERAc.357G>C (p.Gln119His)
12g.91055925C>TCA481306840KERAc.357G>A (p.Gln119=)
12g.91055926T>ACA386014286KERAc.356A>T (p.Gln119Leu)
gnomAD v4
12g.91055926T>CCA386014287KERAc.356A>G (p.Gln119Arg)
12g.91055926T>GCA386014288KERAc.356A>C (p.Gln119Pro)
12g.91055927G>ACA386014289KERAc.355C>T (p.Gln119Ter)
dbSNP gnomAD v2 gnomAD v4
12g.91055927G>CCA386014290KERAc.355C>G (p.Gln119Glu)
12g.91055927G=CA2054260066KERAc.355C= (p.Gln119=)
12g.91055927G>TCA6716585KERAc.355C>A (p.Gln119Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055928G>ACA481306844KERAc.354C>T (p.Ser118=)
dbSNP
12g.91055928G>CCA6716586KERAc.354C>G (p.Ser118Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055928G=CA2054260071KERAc.354C= (p.Ser118=)
12g.91055928G>TCA386014291KERAc.354C>A (p.Ser118Arg)
12g.91055929C>ACA386014292KERAc.353G>T (p.Ser118Ile)
12g.91055929C=CA2054260075KERAc.353G= (p.Ser118=)
12g.91055929C>GCA386014293KERAc.353G>C (p.Ser118Thr)
12g.91055929C>TCA6716587KERAc.353G>A (p.Ser118Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055930T>ACA386014295KERAc.352A>T (p.Ser118Cys)
12g.91055930T>CCA386014296KERAc.352A>G (p.Ser118Gly)
12g.91055930T>GCA386014294KERAc.352A>C (p.Ser118Arg)
gnomAD v4
12g.91055931T>ACA481306847KERAc.351A>T (p.Leu117=)
12g.91055931T>CCA6716588KERAc.351A>G (p.Leu117=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055931T>GCA481306849KERAc.351A>C (p.Leu117=)
gnomAD v3 gnomAD v4
12g.91055931T=CA2054260078KERAc.351A= (p.Leu117=)
12g.91055932A>CCA386014297KERAc.350T>G (p.Leu117Arg)
12g.91055932A>GCA386014299KERAc.350T>C (p.Leu117Pro)
12g.91055932A>TCA386014298KERAc.350T>A (p.Leu117Gln)
12g.91055932_91055935dupCA2825002098KERAc.347_350dup (p.Ser118ProfsTer15)
ClinVar
12g.91055933G>ACA481306851KERAc.349C>T (p.Leu117=)
12g.91055933G>CCA386014300KERAc.349C>G (p.Leu117Val)
12g.91055933G>TCA386014301KERAc.349C>A (p.Leu117Ile)
12g.91055934G>ACA481306855KERAc.348C>T (p.Ala116=)
12g.91055934G>CCA481306854KERAc.348C>G (p.Ala116=)
12g.91055934G>TCA481306853KERAc.348C>A (p.Ala116=)
12g.91055935G>ACA386014302KERAc.347C>T (p.Ala116Val)
gnomAD v4
12g.91055935G>CCA386014303KERAc.347C>G (p.Ala116Gly)
gnomAD v4
12g.91055935G>TCA386014304KERAc.347C>A (p.Ala116Asp)
12g.91055936C>ACA6716589KERAc.346G>T (p.Ala116Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055936C=CA2054260101KERAc.346G= (p.Ala116=)
12g.91055936C>GCA386014305KERAc.346G>C (p.Ala116Pro)
gnomAD v4
12g.91055936C>TCA386014306KERAc.346G>A (p.Ala116Thr)
gnomAD v4
12g.91055937T>ACA481306859KERAc.345A>T (p.Gly115=)
12g.91055937T>CCA481306861KERAc.345A>G (p.Gly115=)
gnomAD v4
12g.91055937T>GCA481306860KERAc.345A>C (p.Gly115=)
12g.91055938C>ACA386014307KERAc.344G>T (p.Gly115Val)
gnomAD v4
12g.91055938C=CA2054260105KERAc.344G= (p.Gly115=)
12g.91055938C>GCA386014308KERAc.344G>C (p.Gly115Ala)
dbSNP gnomAD v3 gnomAD v4
12g.91055938C>TCA386014309KERAc.344G>A (p.Gly115Glu)
COSMIC
12g.91055939C>ACA386014312KERAc.343G>T (p.Gly115Ter)
12g.91055939C=CA2054260108KERAc.343G= (p.Gly115=)
12g.91055939C>GCA386014310KERAc.343G>C (p.Gly115Arg)
12g.91055939C>TCA386014311KERAc.343G>A (p.Gly115Arg)
dbSNP gnomAD v4
12g.91055940T>ACA386014313KERAc.342A>T (p.Lys114Asn)
dbSNP
12g.91055940T>CCA481306862KERAc.342A>G (p.Lys114=)
12g.91055940T>GCA386014314KERAc.342A>C (p.Lys114Asn)
12g.91055940T=CA2054260110KERAc.342A= (p.Lys114=)
12g.91055944delCA2620149246KERAc.342del (p.Gly115GlufsTer3)
gnomAD v4
12g.91055941T>ACA386014315KERAc.341A>T (p.Lys114Ile)
12g.91055941T>CCA386014316KERAc.341A>G (p.Lys114Arg)
12g.91055941T>GCA386014317KERAc.341A>C (p.Lys114Thr)
12g.91055942T>ACA386014318KERAc.340A>T (p.Lys114Ter)
12g.91055942T>CCA386014319KERAc.340A>G (p.Lys114Glu)
12g.91055942T>GCA386014320KERAc.340A>C (p.Lys114Gln)
12g.91055943T>ACA386014322KERAc.339A>T (p.Glu113Asp)
12g.91055943T>CCA481306867KERAc.339A>G (p.Glu113=)
12g.91055943T>GCA386014321KERAc.339A>C (p.Glu113Asp)
12g.91055944T>ACA386014323KERAc.338A>T (p.Glu113Val)
gnomAD v4
12g.91055944T>CCA6716590KERAc.338A>G (p.Glu113Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055944T>GCA386014324KERAc.338A>C (p.Glu113Ala)
12g.91055944T=CA2054260113KERAc.338A= (p.Glu113=)
12g.91055945C>ACA386014325KERAc.337G>T (p.Glu113Ter)
12g.91055945C>GCA386014326KERAc.337G>C (p.Glu113Gln)
12g.91055945C>TCA386014327KERAc.337G>A (p.Glu113Lys)
COSMIC
12g.91055946A>CCA386014328KERAc.336T>G (p.Ile112Met)
12g.91055946A>GCA481306870KERAc.336T>C (p.Ile112=)
12g.91055946A>TCA481306871KERAc.336T>A (p.Ile112=)
gnomAD v4
12g.91055947A>CCA386014329KERAc.335T>G (p.Ile112Ser)
12g.91055947A>GCA386014330KERAc.335T>C (p.Ile112Thr)
12g.91055947A>TCA386014331KERAc.335T>A (p.Ile112Asn)
12g.91055947_91055948delinsATCA2054260120KERAc.334_335delinsAT (p.Ile112=)
12g.91055948T>ACA386014334KERAc.334A>T (p.Ile112Phe)
12g.91055948T>CCA386014332KERAc.334A>G (p.Ile112Val)
dbSNP gnomAD v2 gnomAD v4
12g.91055948T>GCA386014333KERAc.334A>C (p.Ile112Leu)
12g.91055948T=CA2054260125KERAc.334A= (p.Ile112=)
12g.91055949delCA2054260124KERAc.334del (p.Ile112LeufsTer6)
dbSNP
12g.91055949T>ACA481306873KERAc.333A>T (p.Gly111=)
dbSNP gnomAD v3 gnomAD v4
12g.91055949T>CCA481306874KERAc.333A>G (p.Gly111=)
12g.91055949T>GCA6716591KERAc.333A>C (p.Gly111=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055949T=CA2054260128KERAc.333A= (p.Gly111=)
12g.91055950C>ACA386014335KERAc.332G>T (p.Gly111Val)
12g.91055950C>GCA386014336KERAc.332G>C (p.Gly111Ala)
12g.91055950C>TCA386014337KERAc.332G>A (p.Gly111Glu)
12g.91055951C>ACA386014338KERAc.331G>T (p.Gly111Ter)
12g.91055951C=CA2054260132KERAc.331G= (p.Gly111=)
12g.91055951C>GCA386014339KERAc.331G>C (p.Gly111Arg)
12g.91055951C>TCA6716592KERAc.331G>A (p.Gly111Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.91055952G>ACA6716593KERAc.330C>T (p.Tyr110=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055952G>CCA386014340KERAc.330C>G (p.Tyr110Ter)
12g.91055952G=CA2054260135KERAc.330C= (p.Tyr110=)
12g.91055952G>TCA386014341KERAc.330C>A (p.Tyr110Ter)
12g.91055953T>ACA386014343KERAc.329A>T (p.Tyr110Phe)
12g.91055953T>CCA386014344KERAc.329A>G (p.Tyr110Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055953T>GCA386014342KERAc.329A>C (p.Tyr110Ser)
12g.91055953T=CA2054260137KERAc.329A= (p.Tyr110=)
12g.91055954delCA2620149247KERAc.328del (p.Tyr110ThrfsTer8)
gnomAD v4
12g.91055954A>CCA386014347KERAc.328T>G (p.Tyr110Asp)
12g.91055954A>GCA386014345KERAc.328T>C (p.Tyr110His)
gnomAD v4
12g.91055954A>TCA386014346KERAc.328T>A (p.Tyr110Asn)
12g.91055955G>ACA481306879KERAc.327C>T (p.Asn109=)
COSMIC
12g.91055955G>CCA386014348KERAc.327C>G (p.Asn109Lys)
12g.91055955G>TCA386014349KERAc.327C>A (p.Asn109Lys)
12g.91055956T>ACA386014350KERAc.326A>T (p.Asn109Ile)
12g.91055956T>CCA386014351KERAc.326A>G (p.Asn109Ser)
12g.91055956T>GCA386014352KERAc.326A>C (p.Asn109Thr)
12g.91055957T>ACA386014353KERAc.325A>T (p.Asn109Tyr)
12g.91055957T>CCA386014354KERAc.325A>G (p.Asn109Asp)
12g.91055957T>GCA386014355KERAc.325A>C (p.Asn109His)
12g.91055958G>ACA241201537KERAc.324C>T (p.Thr108=)
dbSNP
12g.91055958G>CCA6716594KERAc.324C>G (p.Thr108=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055958G=CA2054260143KERAc.324C= (p.Thr108=)
12g.91055958G>TCA481306883KERAc.324C>A (p.Thr108=)
12g.91055959G>ACA386014356KERAc.323C>T (p.Thr108Ile)
12g.91055959G>CCA386014357KERAc.323C>G (p.Thr108Ser)
12g.91055959G>TCA386014358KERAc.323C>A (p.Thr108Asn)
12g.91055960T>ACA386014359KERAc.322A>T (p.Thr108Ser)
12g.91055960T>CCA386014360KERAc.322A>G (p.Thr108Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055960T>GCA386014361KERAc.322A>C (p.Thr108Pro)
12g.91055960T=CA2054260146KERAc.322A= (p.Thr108=)
12g.91055962_91055964delCA2620149248KERAc.320_322del (p.Ile107del)
gnomAD v4
12g.91055961T>ACA481306885KERAc.321A>T (p.Ile107=)
12g.91055961T>CCA386014362KERAc.321A>G (p.Ile107Met)
dbSNP gnomAD v2 gnomAD v4
12g.91055961T>GCA481306886KERAc.321A>C (p.Ile107=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055961T=CA2054260152KERAc.321A= (p.Ile107=)
12g.91055962A=CA2054260158KERAc.320T= (p.Ile107=)
12g.91055962A>CCA358366KERAc.320T>G (p.Ile107Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055962A>GCA386014363KERAc.320T>C (p.Ile107Thr)
gnomAD v4
12g.91055962A>TCA386014364KERAc.320T>A (p.Ile107Lys)
12g.91055963T>ACA386014366KERAc.319A>T (p.Ile107Leu)
12g.91055963T>CCA386014367KERAc.319A>G (p.Ile107Val)
12g.91055963T>GCA386014365KERAc.319A>C (p.Ile107Leu)
dbSNP
12g.91055963T=CA2054260162KERAc.319A= (p.Ile107=)
12g.91055964T>ACA386014368KERAc.318A>T (p.Lys106Asn)
COSMIC
12g.91055964T>CCA481306888KERAc.318A>G (p.Lys106=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055964T>GCA386014369KERAc.318A>C (p.Lys106Asn)
12g.91055964T=CA2054260166KERAc.318A= (p.Lys106=)
12g.91055965T>ACA386014370KERAc.317A>T (p.Lys106Ile)
12g.91055965T>CCA386014371KERAc.317A>G (p.Lys106Arg)
12g.91055965T>GCA386014372KERAc.317A>C (p.Lys106Thr)
12g.91055966T>ACA386014373KERAc.316A>T (p.Lys106Ter)
12g.91055966T>CCA386014374KERAc.316A>G (p.Lys106Glu)
12g.91055966T>GCA386014375KERAc.316A>C (p.Lys106Gln)
12g.91055967G>ACA6716595KERAc.315C>T (p.Asn105=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055967G>CCA386014376KERAc.315C>G (p.Asn105Lys)
12g.91055967G=CA2054260170KERAc.315C= (p.Asn105=)
12g.91055967G>TCA386014377KERAc.315C>A (p.Asn105Lys)
12g.91055968T>ACA386014380KERAc.314A>T (p.Asn105Ile)
12g.91055968T>CCA386014378KERAc.314A>G (p.Asn105Ser)
12g.91055968T>GCA386014379KERAc.314A>C (p.Asn105Thr)
12g.91055969T>ACA386014381KERAc.313A>T (p.Asn105Tyr)
12g.91055969T>CCA386014382KERAc.313A>G (p.Asn105Asp)
dbSNP gnomAD v3 gnomAD v4
12g.91055969T>GCA386014383KERAc.313A>C (p.Asn105His)
12g.91055969T=CA2054260175KERAc.313A= (p.Asn105=)
12g.91055970C>ACA386014384KERAc.312G>T (p.Lys104Asn)
12g.91055970C>GCA386014385KERAc.312G>C (p.Lys104Asn)
12g.91055970C>TCA481306891KERAc.312G>A (p.Lys104=)
12g.91055971T>ACA386014386KERAc.311A>T (p.Lys104Met)
12g.91055971T>CCA386014387KERAc.311A>G (p.Lys104Arg)
12g.91055971T>GCA386014388KERAc.311A>C (p.Lys104Thr)
12g.91055972T>ACA386014389KERAc.310A>T (p.Lys104Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055972T>CCA386014390KERAc.310A>G (p.Lys104Glu)
COSMIC
12g.91055972T>GCA386014391KERAc.310A>C (p.Lys104Gln)
COSMIC
12g.91055972T=CA2054260179KERAc.310A= (p.Lys104=)
12g.91055973G>ACA241201546KERAc.309C>T (p.Asn103=)
dbSNP
12g.91055973G>CCA386014393KERAc.309C>G (p.Asn103Lys)
12g.91055973G=CA2054260181KERAc.309C= (p.Asn103=)
12g.91055973G>TCA386014392KERAc.309C>A (p.Asn103Lys)
12g.91055974T>ACA386014396KERAc.308A>T (p.Asn103Ile)
12g.91055974T>CCA386014394KERAc.308A>G (p.Asn103Ser)
dbSNP gnomAD v2 gnomAD v4
12g.91055974T>GCA386014395KERAc.308A>C (p.Asn103Thr)
12g.91055974T=CA2054260183KERAc.308A= (p.Asn103=)
12g.91055975T>ACA386014397KERAc.307A>T (p.Asn103Tyr)
12g.91055975T>CCA386014398KERAc.307A>G (p.Asn103Asp)
12g.91055975T>GCA386014399KERAc.307A>C (p.Asn103His)
12g.91055976T>ACA481306897KERAc.306A>T (p.Leu102=)
12g.91055976T>CCA6716596KERAc.306A>G (p.Leu102=)
dbSNP ExAC gnomAD v2
12g.91055976T>GCA481306898KERAc.306A>C (p.Leu102=)
dbSNP
12g.91055976T=CA2054260187KERAc.306A= (p.Leu102=)
12g.91055977A>CCA386014400KERAc.305T>G (p.Leu102Arg)
12g.91055977A>GCA386014401KERAc.305T>C (p.Leu102Pro)
12g.91055977A>TCA386014402KERAc.305T>A (p.Leu102Gln)
12g.91055978G>ACA481306900KERAc.304C>T (p.Leu102=)
12g.91055978G>CCA386014403KERAc.304C>G (p.Leu102Val)
12g.91055978G=CA2054260191KERAc.304C= (p.Leu102=)
12g.91055978G>TCA386014404KERAc.304C>A (p.Leu102Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched