Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127421420A=CA1286880936PROCc.208A= (p.Lys70=)
c.*14A= (n.*14A=)
n.291A=
c.391A= (p.Lys131=)
c.271A= (p.Lys91=)
c.451A= (p.Lys151=)
c.292A= (p.Lys98=)
c.184A= (p.Lys62=)
c.202A= (p.Lys68=)
2g.127421420A>CCA348398142PROCc.208A>C (p.Lys70Gln)
c.*14A>C (n.*14A>C)
n.291A>C
c.391A>C (p.Lys131Gln)
c.271A>C (p.Lys91Gln)
c.451A>C (p.Lys151Gln)
c.292A>C (p.Lys98Gln)
c.184A>C (p.Lys62Gln)
c.202A>C (p.Lys68Gln)
2g.127421420A>GCA55343075PROCc.208A>G (p.Lys70Glu)
c.*14A>G (n.*14A>G)
n.291A>G
c.391A>G (p.Lys131Glu)
c.271A>G (p.Lys91Glu)
c.451A>G (p.Lys151Glu)
c.292A>G (p.Lys98Glu)
c.184A>G (p.Lys62Glu)
c.202A>G (p.Lys68Glu)
dbSNP
2g.127421420A>TCA348398141PROCc.208A>T (p.Lys70Ter)
c.*14A>T (n.*14A>T)
n.291A>T
c.391A>T (p.Lys131Ter)
c.271A>T (p.Lys91Ter)
c.451A>T (p.Lys151Ter)
c.292A>T (p.Lys98Ter)
c.184A>T (p.Lys62Ter)
c.202A>T (p.Lys68Ter)
2g.127421421delCA2586969846PROCc.209del (p.Lys70ArgfsTer?)
c.*15del (n.*15del)
n.292del
c.392del (p.Lys131ArgfsTer?)
c.272del (p.Lys91ArgfsTer?)
c.452del (p.Lys151ArgfsTer?)
c.272del (p.Lys91ArgfsTer23)
c.293del (p.Lys98ArgfsTer?)
c.185del (p.Lys62ArgfsTer?)
c.203del (p.Lys68ArgfsTer?)
2g.127421421A=CA1286880939PROCc.209A= (p.Lys70=)
c.*15A= (n.*15A=)
n.292A=
c.392A= (p.Lys131=)
c.272A= (p.Lys91=)
c.452A= (p.Lys151=)
c.293A= (p.Lys98=)
c.185A= (p.Lys62=)
c.203A= (p.Lys68=)
2g.127421421A>CCA348398143PROCc.209A>C (p.Lys70Thr)
c.*15A>C (n.*15A>C)
n.292A>C
c.392A>C (p.Lys131Thr)
c.272A>C (p.Lys91Thr)
c.452A>C (p.Lys151Thr)
c.293A>C (p.Lys98Thr)
c.185A>C (p.Lys62Thr)
c.203A>C (p.Lys68Thr)
2g.127421421A>GCA1859255PROCc.209A>G (p.Lys70Arg)
c.*15A>G (n.*15A>G)
n.292A>G
c.392A>G (p.Lys131Arg)
c.272A>G (p.Lys91Arg)
c.452A>G (p.Lys151Arg)
c.293A>G (p.Lys98Arg)
c.185A>G (p.Lys62Arg)
c.203A>G (p.Lys68Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.127421421A>TCA55343086PROCc.209A>T (p.Lys70Met)
c.*15A>T (n.*15A>T)
n.292A>T
c.392A>T (p.Lys131Met)
c.272A>T (p.Lys91Met)
c.452A>T (p.Lys151Met)
c.293A>T (p.Lys98Met)
c.185A>T (p.Lys62Met)
c.203A>T (p.Lys68Met)
dbSNP
2g.127421422G>ACA428617454PROCc.210G>A (p.Lys70=)
c.*16G>A (n.*16G>A)
n.293G>A
c.393G>A (p.Lys131=)
c.273G>A (p.Lys91=)
c.453G>A (p.Lys151=)
c.294G>A (p.Lys98=)
c.186G>A (p.Lys62=)
c.204G>A (p.Lys68=)
dbSNP gnomAD v3 gnomAD v4
2g.127421422G>CCA348398144PROCc.210G>C (p.Lys70Asn)
c.*16G>C (n.*16G>C)
n.293G>C
c.393G>C (p.Lys131Asn)
c.273G>C (p.Lys91Asn)
c.453G>C (p.Lys151Asn)
c.294G>C (p.Lys98Asn)
c.186G>C (p.Lys62Asn)
c.204G>C (p.Lys68Asn)
2g.127421422G=CA1286880942PROCc.210G= (p.Lys70=)
c.*16G= (n.*16G=)
n.293G=
c.393G= (p.Lys131=)
c.273G= (p.Lys91=)
c.453G= (p.Lys151=)
c.294G= (p.Lys98=)
c.186G= (p.Lys62=)
c.204G= (p.Lys68=)
2g.127421422G>TCA348398145PROCc.210G>T (p.Lys70Asn)
c.*16G>T (n.*16G>T)
n.293G>T
c.393G>T (p.Lys131Asn)
c.273G>T (p.Lys91Asn)
c.453G>T (p.Lys151Asn)
c.294G>T (p.Lys98Asn)
c.186G>T (p.Lys62Asn)
c.204G>T (p.Lys68Asn)
2g.127421423G>ACA348398146PROCc.211G>A (p.Glu71Lys)
c.*17G>A (n.*17G>A)
n.294G>A
c.394G>A (p.Glu132Lys)
c.274G>A (p.Glu92Lys)
c.454G>A (p.Glu152Lys)
c.295G>A (p.Glu99Lys)
c.187G>A (p.Glu63Lys)
c.205G>A (p.Glu69Lys)
COSMIC
2g.127421423G>CCA348398148PROCc.211G>C (p.Glu71Gln)
c.*17G>C (n.*17G>C)
n.294G>C
c.394G>C (p.Glu132Gln)
c.274G>C (p.Glu92Gln)
c.454G>C (p.Glu152Gln)
c.295G>C (p.Glu99Gln)
c.187G>C (p.Glu63Gln)
c.205G>C (p.Glu69Gln)
2g.127421423G>TCA348398147PROCc.211G>T (p.Glu71Ter)
c.*17G>T (n.*17G>T)
n.294G>T
c.394G>T (p.Glu132Ter)
c.274G>T (p.Glu92Ter)
c.454G>T (p.Glu152Ter)
c.295G>T (p.Glu99Ter)
c.187G>T (p.Glu63Ter)
c.205G>T (p.Glu69Ter)
2g.127421424A>CCA348398149PROCc.212A>C (p.Glu71Ala)
c.*18A>C (n.*18A>C)
n.295A>C
c.395A>C (p.Glu132Ala)
c.275A>C (p.Glu92Ala)
c.455A>C (p.Glu152Ala)
c.296A>C (p.Glu99Ala)
c.188A>C (p.Glu63Ala)
c.206A>C (p.Glu69Ala)
2g.127421424A>GCA348398150PROCc.212A>G (p.Glu71Gly)
c.*18A>G (n.*18A>G)
n.295A>G
c.395A>G (p.Glu132Gly)
c.275A>G (p.Glu92Gly)
c.455A>G (p.Glu152Gly)
c.296A>G (p.Glu99Gly)
c.188A>G (p.Glu63Gly)
c.206A>G (p.Glu69Gly)
2g.127421424A>TCA348398151PROCc.212A>T (p.Glu71Val)
c.*18A>T (n.*18A>T)
n.295A>T
c.395A>T (p.Glu132Val)
c.275A>T (p.Glu92Val)
c.455A>T (p.Glu152Val)
c.296A>T (p.Glu99Val)
c.188A>T (p.Glu63Val)
c.206A>T (p.Glu69Val)
2g.127421425A=CA1286880946PROCc.213A= (p.Glu71=)
c.*19A= (n.*19A=)
n.296A=
c.396A= (p.Glu132=)
c.276A= (p.Glu92=)
c.456A= (p.Glu152=)
c.297A= (p.Glu99=)
c.189A= (p.Glu63=)
c.207A= (p.Glu69=)
2g.127421425A>CCA348398152PROCc.213A>C (p.Glu71Asp)
c.*19A>C (n.*19A>C)
n.296A>C
c.396A>C (p.Glu132Asp)
c.276A>C (p.Glu92Asp)
c.456A>C (p.Glu152Asp)
c.297A>C (p.Glu99Asp)
c.189A>C (p.Glu63Asp)
c.207A>C (p.Glu69Asp)
dbSNP gnomAD v2 gnomAD v4
2g.127421425A>GCA428617455PROCc.213A>G (p.Glu71=)
c.*19A>G (n.*19A>G)
n.296A>G
c.396A>G (p.Glu132=)
c.276A>G (p.Glu92=)
c.456A>G (p.Glu152=)
c.297A>G (p.Glu99=)
c.189A>G (p.Glu63=)
c.207A>G (p.Glu69=)
2g.127421425A>TCA348398153PROCc.213A>T (p.Glu71Asp)
c.*19A>T (n.*19A>T)
n.296A>T
c.396A>T (p.Glu132Asp)
c.276A>T (p.Glu92Asp)
c.456A>T (p.Glu152Asp)
c.297A>T (p.Glu99Asp)
c.189A>T (p.Glu63Asp)
c.207A>T (p.Glu69Asp)
2g.127421426A>CCA348398154PROCc.214A>C (p.Ile72Leu)
c.*20A>C (n.*20A>C)
n.297A>C
c.397A>C (p.Ile133Leu)
c.277A>C (p.Ile93Leu)
c.457A>C (p.Ile153Leu)
c.298A>C (p.Ile100Leu)
c.190A>C (p.Ile64Leu)
c.208A>C (p.Ile70Leu)
2g.127421426A>GCA348398155PROCc.214A>G (p.Ile72Val)
c.*20A>G (n.*20A>G)
n.297A>G
c.397A>G (p.Ile133Val)
c.277A>G (p.Ile93Val)
c.457A>G (p.Ile153Val)
c.298A>G (p.Ile100Val)
c.190A>G (p.Ile64Val)
c.208A>G (p.Ile70Val)
2g.127421426A>TCA348398156PROCc.214A>T (p.Ile72Phe)
c.*20A>T (n.*20A>T)
n.297A>T
c.397A>T (p.Ile133Phe)
c.277A>T (p.Ile93Phe)
c.457A>T (p.Ile153Phe)
c.298A>T (p.Ile100Phe)
c.190A>T (p.Ile64Phe)
c.208A>T (p.Ile70Phe)
2g.127421427T>ACA348398157PROCc.215T>A (p.Ile72Asn)
c.*21T>A (n.*21T>A)
n.298T>A
c.398T>A (p.Ile133Asn)
c.278T>A (p.Ile93Asn)
c.458T>A (p.Ile153Asn)
c.299T>A (p.Ile100Asn)
c.191T>A (p.Ile64Asn)
c.209T>A (p.Ile70Asn)
2g.127421427T>CCA348398159PROCc.215T>C (p.Ile72Thr)
c.*21T>C (n.*21T>C)
n.298T>C
c.398T>C (p.Ile133Thr)
c.278T>C (p.Ile93Thr)
c.458T>C (p.Ile153Thr)
c.299T>C (p.Ile100Thr)
c.191T>C (p.Ile64Thr)
c.209T>C (p.Ile70Thr)
gnomAD v4
2g.127421427T>GCA348398158PROCc.215T>G (p.Ile72Ser)
c.*21T>G (n.*21T>G)
n.298T>G
c.398T>G (p.Ile133Ser)
c.278T>G (p.Ile93Ser)
c.458T>G (p.Ile153Ser)
c.299T>G (p.Ile100Ser)
c.191T>G (p.Ile64Ser)
c.209T>G (p.Ile70Ser)
2g.127421428T>ACA428617457PROCc.216T>A (p.Ile72=)
c.*22T>A (n.*22T>A)
n.299T>A
c.399T>A (p.Ile133=)
c.279T>A (p.Ile93=)
c.459T>A (p.Ile153=)
c.300T>A (p.Ile100=)
c.192T>A (p.Ile64=)
c.210T>A (p.Ile70=)
2g.127421428T>CCA428617458PROCc.216T>C (p.Ile72=)
c.*22T>C (n.*22T>C)
n.299T>C
c.399T>C (p.Ile133=)
c.279T>C (p.Ile93=)
c.459T>C (p.Ile153=)
c.300T>C (p.Ile100=)
c.192T>C (p.Ile64=)
c.210T>C (p.Ile70=)
2g.127421428T>GCA348398160PROCc.216T>G (p.Ile72Met)
c.*22T>G (n.*22T>G)
n.299T>G
c.399T>G (p.Ile133Met)
c.279T>G (p.Ile93Met)
c.459T>G (p.Ile153Met)
c.300T>G (p.Ile100Met)
c.192T>G (p.Ile64Met)
c.210T>G (p.Ile70Met)
dbSNP
2g.127421428T=CA1286880950PROCc.216T= (p.Ile72=)
c.*22T= (n.*22T=)
n.299T=
c.399T= (p.Ile133=)
c.279T= (p.Ile93=)
c.459T= (p.Ile153=)
c.300T= (p.Ile100=)
c.192T= (p.Ile64=)
c.210T= (p.Ile70=)
2g.127421429T>ACA348398161PROCc.217T>A (p.Phe73Ile)
c.*23T>A (n.*23T>A)
n.300T>A
c.400T>A (p.Phe134Ile)
c.280T>A (p.Phe94Ile)
c.460T>A (p.Phe154Ile)
c.301T>A (p.Phe101Ile)
c.193T>A (p.Phe65Ile)
c.211T>A (p.Phe71Ile)
2g.127421429T>CCA348398162PROCc.217T>C (p.Phe73Leu)
c.*23T>C (n.*23T>C)
n.300T>C
c.400T>C (p.Phe134Leu)
c.280T>C (p.Phe94Leu)
c.460T>C (p.Phe154Leu)
c.301T>C (p.Phe101Leu)
c.193T>C (p.Phe65Leu)
c.211T>C (p.Phe71Leu)
2g.127421429T>GCA348398163PROCc.217T>G (p.Phe73Val)
c.*23T>G (n.*23T>G)
n.300T>G
c.400T>G (p.Phe134Val)
c.280T>G (p.Phe94Val)
c.460T>G (p.Phe154Val)
c.301T>G (p.Phe101Val)
c.193T>G (p.Phe65Val)
c.211T>G (p.Phe71Val)
2g.127421430T>ACA348398166PROCc.218T>A (p.Phe73Tyr)
c.*24T>A (n.*24T>A)
n.301T>A
c.401T>A (p.Phe134Tyr)
c.281T>A (p.Phe94Tyr)
c.461T>A (p.Phe154Tyr)
c.302T>A (p.Phe101Tyr)
c.194T>A (p.Phe65Tyr)
c.212T>A (p.Phe71Tyr)
2g.127421430T>CCA348398164PROCc.218T>C (p.Phe73Ser)
c.*24T>C (n.*24T>C)
n.301T>C
c.401T>C (p.Phe134Ser)
c.281T>C (p.Phe94Ser)
c.461T>C (p.Phe154Ser)
c.302T>C (p.Phe101Ser)
c.194T>C (p.Phe65Ser)
c.212T>C (p.Phe71Ser)
2g.127421430T>GCA348398165PROCc.218T>G (p.Phe73Cys)
c.*24T>G (n.*24T>G)
n.301T>G
c.401T>G (p.Phe134Cys)
c.281T>G (p.Phe94Cys)
c.461T>G (p.Phe154Cys)
c.302T>G (p.Phe101Cys)
c.194T>G (p.Phe65Cys)
c.212T>G (p.Phe71Cys)
2g.127421431C>ACA348398167PROCc.219C>A (p.Phe73Leu)
c.*25C>A (n.*25C>A)
n.302C>A
c.402C>A (p.Phe134Leu)
c.282C>A (p.Phe94Leu)
c.462C>A (p.Phe154Leu)
c.303C>A (p.Phe101Leu)
c.195C>A (p.Phe65Leu)
c.213C>A (p.Phe71Leu)
2g.127421431C>GCA348398168PROCc.219C>G (p.Phe73Leu)
c.*25C>G (n.*25C>G)
n.302C>G
c.402C>G (p.Phe134Leu)
c.282C>G (p.Phe94Leu)
c.462C>G (p.Phe154Leu)
c.303C>G (p.Phe101Leu)
c.195C>G (p.Phe65Leu)
c.213C>G (p.Phe71Leu)
2g.127421431C>TCA428617460PROCc.219C>T (p.Phe73=)
c.*25C>T (n.*25C>T)
n.302C>T
c.402C>T (p.Phe134=)
c.282C>T (p.Phe94=)
c.462C>T (p.Phe154=)
c.303C>T (p.Phe101=)
c.195C>T (p.Phe65=)
c.213C>T (p.Phe71=)
gnomAD v4 COSMIC
2g.127421432C>ACA348398169PROCc.220C>A (p.Gln74Lys)
c.*26C>A (n.*26C>A)
n.303C>A
c.403C>A (p.Gln135Lys)
c.283C>A (p.Gln95Lys)
c.463C>A (p.Gln155Lys)
c.304C>A (p.Gln102Lys)
c.196C>A (p.Gln66Lys)
c.214C>A (p.Gln72Lys)
2g.127421432C>GCA348398170PROCc.220C>G (p.Gln74Glu)
c.*26C>G (n.*26C>G)
n.303C>G
c.403C>G (p.Gln135Glu)
c.283C>G (p.Gln95Glu)
c.463C>G (p.Gln155Glu)
c.304C>G (p.Gln102Glu)
c.196C>G (p.Gln66Glu)
c.214C>G (p.Gln72Glu)
2g.127421432C>TCA348398171PROCc.220C>T (p.Gln74Ter)
c.*26C>T (n.*26C>T)
n.303C>T
c.403C>T (p.Gln135Ter)
c.283C>T (p.Gln95Ter)
c.463C>T (p.Gln155Ter)
c.304C>T (p.Gln102Ter)
c.196C>T (p.Gln66Ter)
c.214C>T (p.Gln72Ter)
COSMIC COSMIC
2g.127421433A>CCA348398172PROCc.221A>C (p.Gln74Pro)
c.*27A>C (n.*27A>C)
n.304A>C
c.404A>C (p.Gln135Pro)
c.284A>C (p.Gln95Pro)
c.464A>C (p.Gln155Pro)
c.305A>C (p.Gln102Pro)
c.197A>C (p.Gln66Pro)
c.215A>C (p.Gln72Pro)
2g.127421433A>GCA348398173PROCc.221A>G (p.Gln74Arg)
c.*27A>G (n.*27A>G)
n.304A>G
c.404A>G (p.Gln135Arg)
c.284A>G (p.Gln95Arg)
c.464A>G (p.Gln155Arg)
c.305A>G (p.Gln102Arg)
c.197A>G (p.Gln66Arg)
c.215A>G (p.Gln72Arg)
2g.127421433A>TCA348398174PROCc.221A>T (p.Gln74Leu)
c.*27A>T (n.*27A>T)
n.304A>T
c.404A>T (p.Gln135Leu)
c.284A>T (p.Gln95Leu)
c.464A>T (p.Gln155Leu)
c.305A>T (p.Gln102Leu)
c.197A>T (p.Gln66Leu)
c.215A>T (p.Gln72Leu)
2g.127421434A>CCA348398175PROCc.222A>C (p.Gln74His)
c.*28A>C (n.*28A>C)
n.305A>C
c.405A>C (p.Gln135His)
c.285A>C (p.Gln95His)
c.465A>C (p.Gln155His)
c.306A>C (p.Gln102His)
c.198A>C (p.Gln66His)
c.216A>C (p.Gln72His)
2g.127421434A>GCA428617462PROCc.222A>G (p.Gln74=)
c.*28A>G (n.*28A>G)
n.305A>G
c.405A>G (p.Gln135=)
c.285A>G (p.Gln95=)
c.465A>G (p.Gln155=)
c.306A>G (p.Gln102=)
c.198A>G (p.Gln66=)
c.216A>G (p.Gln72=)

Number of alleles fetched