Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127421413G>ACA428617450PROCc.201G>A (p.Glu67=)
c.*7G>A (n.*7G>A)
n.284G>A
c.384G>A (p.Glu128=)
c.264G>A (p.Glu88=)
c.444G>A (p.Glu148=)
c.285G>A (p.Glu95=)
c.177G>A (p.Glu59=)
c.195G>A (p.Glu65=)
2g.127421413G>CCA348398126PROCc.201G>C (p.Glu67Asp)
c.*7G>C (n.*7G>C)
n.284G>C
c.384G>C (p.Glu128Asp)
c.264G>C (p.Glu88Asp)
c.444G>C (p.Glu148Asp)
c.285G>C (p.Glu95Asp)
c.177G>C (p.Glu59Asp)
c.195G>C (p.Glu65Asp)
COSMIC
2g.127421413G>TCA348398127PROCc.201G>T (p.Glu67Asp)
c.*7G>T (n.*7G>T)
n.284G>T
c.384G>T (p.Glu128Asp)
c.264G>T (p.Glu88Asp)
c.444G>T (p.Glu148Asp)
c.285G>T (p.Glu95Asp)
c.177G>T (p.Glu59Asp)
c.195G>T (p.Glu65Asp)
2g.127421414G>ACA348398128PROCc.202G>A (p.Glu68Lys)
c.*8G>A (n.*8G>A)
n.285G>A
c.385G>A (p.Glu129Lys)
c.265G>A (p.Glu89Lys)
c.445G>A (p.Glu149Lys)
c.286G>A (p.Glu96Lys)
c.178G>A (p.Glu60Lys)
c.196G>A (p.Glu66Lys)
dbSNP gnomAD v4 COSMIC
2g.127421414G>CCA348398130PROCc.202G>C (p.Glu68Gln)
c.*8G>C (n.*8G>C)
n.285G>C
c.385G>C (p.Glu129Gln)
c.265G>C (p.Glu89Gln)
c.445G>C (p.Glu149Gln)
c.286G>C (p.Glu96Gln)
c.178G>C (p.Glu60Gln)
c.196G>C (p.Glu66Gln)
dbSNP
2g.127421414G=CA1286880921PROCc.202G= (p.Glu68=)
c.*8G= (n.*8G=)
n.285G=
c.385G= (p.Glu129=)
c.265G= (p.Glu89=)
c.445G= (p.Glu149=)
c.286G= (p.Glu96=)
c.178G= (p.Glu60=)
c.196G= (p.Glu66=)
2g.127421414G>TCA348398129PROCc.202G>T (p.Glu68Ter)
c.*8G>T (n.*8G>T)
n.285G>T
c.385G>T (p.Glu129Ter)
c.265G>T (p.Glu89Ter)
c.445G>T (p.Glu149Ter)
c.286G>T (p.Glu96Ter)
c.178G>T (p.Glu60Ter)
c.196G>T (p.Glu66Ter)
2g.127421415A>CCA348398131PROCc.203A>C (p.Glu68Ala)
c.*9A>C (n.*9A>C)
n.286A>C
c.386A>C (p.Glu129Ala)
c.266A>C (p.Glu89Ala)
c.446A>C (p.Glu149Ala)
c.287A>C (p.Glu96Ala)
c.179A>C (p.Glu60Ala)
c.197A>C (p.Glu66Ala)
gnomAD v4
2g.127421415A>GCA348398132PROCc.203A>G (p.Glu68Gly)
c.*9A>G (n.*9A>G)
n.286A>G
c.386A>G (p.Glu129Gly)
c.266A>G (p.Glu89Gly)
c.446A>G (p.Glu149Gly)
c.287A>G (p.Glu96Gly)
c.179A>G (p.Glu60Gly)
c.197A>G (p.Glu66Gly)
2g.127421415A>TCA348398133PROCc.203A>T (p.Glu68Val)
c.*9A>T (n.*9A>T)
n.286A>T
c.386A>T (p.Glu129Val)
c.266A>T (p.Glu89Val)
c.446A>T (p.Glu149Val)
c.287A>T (p.Glu96Val)
c.179A>T (p.Glu60Val)
c.197A>T (p.Glu66Val)
2g.127421416G>ACA1859254PROCc.204G>A (p.Glu68=)
c.*10G>A (n.*10G>A)
n.287G>A
c.387G>A (p.Glu129=)
c.267G>A (p.Glu89=)
c.447G>A (p.Glu149=)
c.288G>A (p.Glu96=)
c.180G>A (p.Glu60=)
c.198G>A (p.Glu66=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.127421416G>CCA348398134PROCc.204G>C (p.Glu68Asp)
c.*10G>C (n.*10G>C)
n.287G>C
c.387G>C (p.Glu129Asp)
c.267G>C (p.Glu89Asp)
c.447G>C (p.Glu149Asp)
c.288G>C (p.Glu96Asp)
c.180G>C (p.Glu60Asp)
c.198G>C (p.Glu66Asp)
2g.127421416G=CA1286880923PROCc.204G= (p.Glu68=)
c.*10G= (n.*10G=)
n.287G=
c.387G= (p.Glu129=)
c.267G= (p.Glu89=)
c.447G= (p.Glu149=)
c.288G= (p.Glu96=)
c.180G= (p.Glu60=)
c.198G= (p.Glu66=)
2g.127421416G>TCA348398135PROCc.204G>T (p.Glu68Asp)
c.*10G>T (n.*10G>T)
n.287G>T
c.387G>T (p.Glu129Asp)
c.267G>T (p.Glu89Asp)
c.447G>T (p.Glu149Asp)
c.288G>T (p.Glu96Asp)
c.180G>T (p.Glu60Asp)
c.198G>T (p.Glu66Asp)
2g.127421417G>ACA348398136PROCc.205G>A (p.Ala69Thr)
c.*11G>A (n.*11G>A)
n.288G>A
c.388G>A (p.Ala130Thr)
c.268G>A (p.Ala90Thr)
c.448G>A (p.Ala150Thr)
c.289G>A (p.Ala97Thr)
c.181G>A (p.Ala61Thr)
c.199G>A (p.Ala67Thr)
ClinVar dbSNP
2g.127421417G>CCA348398137PROCc.205G>C (p.Ala69Pro)
c.*11G>C (n.*11G>C)
n.288G>C
c.388G>C (p.Ala130Pro)
c.268G>C (p.Ala90Pro)
c.448G>C (p.Ala150Pro)
c.289G>C (p.Ala97Pro)
c.181G>C (p.Ala61Pro)
c.199G>C (p.Ala67Pro)
2g.127421417G>TCA348398138PROCc.205G>T (p.Ala69Ser)
c.*11G>T (n.*11G>T)
n.288G>T
c.388G>T (p.Ala130Ser)
c.268G>T (p.Ala90Ser)
c.448G>T (p.Ala150Ser)
c.289G>T (p.Ala97Ser)
c.181G>T (p.Ala61Ser)
c.199G>T (p.Ala67Ser)
2g.127421418C>ACA348398139PROCc.206C>A (p.Ala69Asp)
c.*12C>A (n.*12C>A)
n.289C>A
c.389C>A (p.Ala130Asp)
c.269C>A (p.Ala90Asp)
c.449C>A (p.Ala150Asp)
c.290C>A (p.Ala97Asp)
c.182C>A (p.Ala61Asp)
c.200C>A (p.Ala67Asp)
2g.127421418C=CA1286880926PROCc.206C= (p.Ala69=)
c.*12C= (n.*12C=)
n.289C=
c.389C= (p.Ala130=)
c.269C= (p.Ala90=)
c.449C= (p.Ala150=)
c.290C= (p.Ala97=)
c.182C= (p.Ala61=)
c.200C= (p.Ala67=)
2g.127421418C>GCA348398140PROCc.206C>G (p.Ala69Gly)
c.*12C>G (n.*12C>G)
n.289C>G
c.389C>G (p.Ala130Gly)
c.269C>G (p.Ala90Gly)
c.449C>G (p.Ala150Gly)
c.290C>G (p.Ala97Gly)
c.182C>G (p.Ala61Gly)
c.200C>G (p.Ala67Gly)
2g.127421418C>TCA55343052PROCc.206C>T (p.Ala69Val)
c.*12C>T (n.*12C>T)
n.289C>T
c.389C>T (p.Ala130Val)
c.269C>T (p.Ala90Val)
c.449C>T (p.Ala150Val)
c.290C>T (p.Ala97Val)
c.182C>T (p.Ala61Val)
c.200C>T (p.Ala67Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.127421419C>ACA428617451PROCc.207C>A (p.Ala69=)
c.*13C>A (n.*13C>A)
n.290C>A
c.390C>A (p.Ala130=)
c.270C>A (p.Ala90=)
c.450C>A (p.Ala150=)
c.291C>A (p.Ala97=)
c.183C>A (p.Ala61=)
c.201C>A (p.Ala67=)
dbSNP gnomAD v3 gnomAD v4
2g.127421419C=CA1286880932PROCc.207C= (p.Ala69=)
c.*13C= (n.*13C=)
n.290C=
c.390C= (p.Ala130=)
c.270C= (p.Ala90=)
c.450C= (p.Ala150=)
c.291C= (p.Ala97=)
c.183C= (p.Ala61=)
c.201C= (p.Ala67=)
2g.127421419C>GCA428617452PROCc.207C>G (p.Ala69=)
c.*13C>G (n.*13C>G)
n.290C>G
c.390C>G (p.Ala130=)
c.270C>G (p.Ala90=)
c.450C>G (p.Ala150=)
c.291C>G (p.Ala97=)
c.183C>G (p.Ala61=)
c.201C>G (p.Ala67=)
2g.127421419C>TCA428617453PROCc.207C>T (p.Ala69=)
c.*13C>T (n.*13C>T)
n.290C>T
c.390C>T (p.Ala130=)
c.270C>T (p.Ala90=)
c.450C>T (p.Ala150=)
c.291C>T (p.Ala97=)
c.183C>T (p.Ala61=)
c.201C>T (p.Ala67=)
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)
ClinVar 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)

Number of alleles fetched