Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.31533622T>ACA425568220SRD5A2c.426A>T (p.Thr142=)
c.204A>T (p.Thr68=)
c.171A>T (p.Thr57=)
2g.31533622T>CCA425568221SRD5A2c.426A>G (p.Thr142=)
c.204A>G (p.Thr68=)
c.171A>G (p.Thr57=)
2g.31533622T>GCA425568222SRD5A2c.426A>C (p.Thr142=)
c.204A>C (p.Thr68=)
c.171A>C (p.Thr57=)
2g.31533623G>ACA1599945SRD5A2c.425C>T (p.Thr142Ile)
c.203C>T (p.Thr68Ile)
c.170C>T (p.Thr57Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533623G>CCA45136777SRD5A2c.425C>G (p.Thr142Arg)
c.203C>G (p.Thr68Arg)
c.170C>G (p.Thr57Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.31533623G=CA1242199315SRD5A2c.425C= (p.Thr142=)
c.203C= (p.Thr68=)
c.170C= (p.Thr57=)
2g.31533623G>TCA346598442SRD5A2c.425C>A (p.Thr142Lys)
c.203C>A (p.Thr68Lys)
c.170C>A (p.Thr57Lys)
2g.31533624T>ACA346598443SRD5A2c.424A>T (p.Thr142Ser)
c.202A>T (p.Thr68Ser)
c.169A>T (p.Thr57Ser)
2g.31533624T>CCA346598445SRD5A2c.424A>G (p.Thr142Ala)
c.202A>G (p.Thr68Ala)
c.169A>G (p.Thr57Ala)
2g.31533624T>GCA346598444SRD5A2c.424A>C (p.Thr142Pro)
c.202A>C (p.Thr68Pro)
c.169A>C (p.Thr57Pro)
2g.31533625G>ACA425568227SRD5A2c.423C>T (p.Tyr141=)
c.201C>T (p.Tyr67=)
c.168C>T (p.Tyr56=)
 gnomAD v4
2g.31533625G>CCA346598446SRD5A2c.423C>G (p.Tyr141Ter)
c.201C>G (p.Tyr67Ter)
c.168C>G (p.Tyr56Ter)
2g.31533625G>TCA346598447SRD5A2c.423C>A (p.Tyr141Ter)
c.201C>A (p.Tyr67Ter)
c.168C>A (p.Tyr56Ter)
 gnomAD v4
2g.31533626T>ACA346598448SRD5A2c.422A>T (p.Tyr141Phe)
c.200A>T (p.Tyr67Phe)
c.167A>T (p.Tyr56Phe)
2g.31533626T>CCA346598449SRD5A2c.422A>G (p.Tyr141Cys)
c.200A>G (p.Tyr67Cys)
c.167A>G (p.Tyr56Cys)
2g.31533626T>GCA346598450SRD5A2c.422A>C (p.Tyr141Ser)
c.200A>C (p.Tyr67Ser)
c.167A>C (p.Tyr56Ser)
2g.31533626_31533627insGCA2658499157SRD5A2c.421_422insC (p.Tyr141SerfsTer7)
c.199_200insC (p.Tyr67SerfsTer7)
c.166_167insC (p.Tyr56SerfsTer7)
 gnomAD v4
2g.31533627A=CA1242199316SRD5A2c.421T= (p.Tyr141=)
c.199T= (p.Tyr67=)
c.166T= (p.Tyr56=)
2g.31533627A>CCA346598451SRD5A2c.421T>G (p.Tyr141Asp)
c.199T>G (p.Tyr67Asp)
c.166T>G (p.Tyr56Asp)
2g.31533627A>GCA346598452SRD5A2c.421T>C (p.Tyr141His)
c.199T>C (p.Tyr67His)
c.166T>C (p.Tyr56His)
 dbSNP gnomAD v2 gnomAD v4
2g.31533627A>TCA346598453SRD5A2c.421T>A (p.Tyr141Asn)
c.199T>A (p.Tyr67Asn)
c.166T>A (p.Tyr56Asn)
2g.31533627_31533629delinsGAATCA2586969031SRD5A2c.419_421delinsATTC (p.Trp140TyrfsTer8)
c.197_199delinsATTC (p.Trp66TyrfsTer8)
c.164_166delinsATTC (p.Trp55TyrfsTer8)
2g.31533628C>ACA1599946SRD5A2c.420G>T (p.Trp140Cys)
c.198G>T (p.Trp66Cys)
c.165G>T (p.Trp55Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533628C=CA1242199317SRD5A2c.420G= (p.Trp140=)
c.198G= (p.Trp66=)
c.165G= (p.Trp55=)
2g.31533628C>GCA346598454SRD5A2c.420G>C (p.Trp140Cys)
c.198G>C (p.Trp66Cys)
c.165G>C (p.Trp55Cys)
2g.31533628C>TCA346598455SRD5A2c.420G>A (p.Trp140Ter)
c.198G>A (p.Trp66Ter)
c.165G>A (p.Trp55Ter)
 dbSNP
2g.31533629C>ACA346598458SRD5A2c.419G>T (p.Trp140Leu)
c.197G>T (p.Trp66Leu)
c.164G>T (p.Trp55Leu)
2g.31533629C>GCA346598457SRD5A2c.419G>C (p.Trp140Ser)
c.197G>C (p.Trp66Ser)
c.164G>C (p.Trp55Ser)
2g.31533629C>TCA346598456SRD5A2c.419G>A (p.Trp140Ter)
c.197G>A (p.Trp66Ter)
c.164G>A (p.Trp55Ter)
 gnomAD v4
2g.31533629_31533630delinsCACA1242199318SRD5A2c.418_419delinsTG (p.Trp140=)
c.196_197delinsTG (p.Trp66=)
c.163_164delinsTG (p.Trp55=)
2g.31533630delCA767761623SRD5A2c.418del (p.Trp140GlyfsTer20)
c.418del (p.Trp140GlyfsTer?)
c.196del (p.Trp66GlyfsTer20)
c.163del (p.Trp55GlyfsTer20)
 ClinVar dbSNP
2g.31533630A>CCA346598459SRD5A2c.418T>G (p.Trp140Gly)
c.196T>G (p.Trp66Gly)
c.163T>G (p.Trp55Gly)
2g.31533630A>GCA346598460SRD5A2c.418T>C (p.Trp140Arg)
c.196T>C (p.Trp66Arg)
c.163T>C (p.Trp55Arg)
2g.31533630A>TCA346598461SRD5A2c.418T>A (p.Trp140Arg)
c.196T>A (p.Trp66Arg)
c.163T>A (p.Trp55Arg)
2g.31533631C>ACA425568237SRD5A2c.417G>T (p.Gly139=)
c.195G>T (p.Gly65=)
c.162G>T (p.Gly54=)
2g.31533631C>GCA425568239SRD5A2c.417G>C (p.Gly139=)
c.195G>C (p.Gly65=)
c.162G>C (p.Gly54=)
2g.31533631C>TCA425568240SRD5A2c.417G>A (p.Gly139=)
c.195G>A (p.Gly65=)
c.162G>A (p.Gly54=)
 gnomAD v4
2g.31533632C>ACA346598462SRD5A2c.416G>T (p.Gly139Val)
c.194G>T (p.Gly65Val)
c.161G>T (p.Gly54Val)
2g.31533632C>GCA346598463SRD5A2c.416G>C (p.Gly139Ala)
c.194G>C (p.Gly65Ala)
c.161G>C (p.Gly54Ala)
2g.31533632C>TCA346598464SRD5A2c.416G>A (p.Gly139Glu)
c.194G>A (p.Gly65Glu)
c.161G>A (p.Gly54Glu)
2g.31533633C>ACA346598465SRD5A2c.415G>T (p.Gly139Trp)
c.193G>T (p.Gly65Trp)
c.160G>T (p.Gly54Trp)
 gnomAD v4
2g.31533633C>GCA346598466SRD5A2c.415G>C (p.Gly139Arg)
c.193G>C (p.Gly65Arg)
c.160G>C (p.Gly54Arg)
2g.31533633C>TCA346598467SRD5A2c.415G>A (p.Gly139Arg)
c.193G>A (p.Gly65Arg)
c.160G>A (p.Gly54Arg)
2g.31533634A>CCA346598468SRD5A2c.414T>G (p.Asp138Glu)
c.192T>G (p.Asp64Glu)
c.159T>G (p.Asp53Glu)
2g.31533634A>GCA425568245SRD5A2c.414T>C (p.Asp138=)
c.192T>C (p.Asp64=)
c.159T>C (p.Asp53=)
 gnomAD v4
2g.31533634A>TCA346598469SRD5A2c.414T>A (p.Asp138Glu)
c.192T>A (p.Asp64Glu)
c.159T>A (p.Asp53Glu)
2g.31533635T>ACA346598472SRD5A2c.413A>T (p.Asp138Val)
c.191A>T (p.Asp64Val)
c.158A>T (p.Asp53Val)
 dbSNP
2g.31533635T>CCA346598471SRD5A2c.413A>G (p.Asp138Gly)
c.191A>G (p.Asp64Gly)
c.158A>G (p.Asp53Gly)
2g.31533635T>GCA346598470SRD5A2c.413A>C (p.Asp138Ala)
c.191A>C (p.Asp64Ala)
c.158A>C (p.Asp53Ala)
2g.31533635T=CA1242199319SRD5A2c.413A= (p.Asp138=)
c.191A= (p.Asp64=)
c.158A= (p.Asp53=)
2g.31533636C>ACA346598473SRD5A2c.412G>T (p.Asp138Tyr)
c.190G>T (p.Asp64Tyr)
c.157G>T (p.Asp53Tyr)
2g.31533636C>GCA346598475SRD5A2c.412G>C (p.Asp138His)
c.190G>C (p.Asp64His)
c.157G>C (p.Asp53His)
2g.31533636C>TCA346598474SRD5A2c.412G>A (p.Asp138Asn)
c.190G>A (p.Asp64Asn)
c.157G>A (p.Asp53Asn)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.31533637A>CCA425568250SRD5A2c.411T>G (p.Pro137=)
c.189T>G (p.Pro63=)
c.156T>G (p.Pro52=)
2g.31533637A>GCA425568252SRD5A2c.411T>C (p.Pro137=)
c.189T>C (p.Pro63=)
c.156T>C (p.Pro52=)
2g.31533637A>TCA425568253SRD5A2c.411T>A (p.Pro137=)
c.189T>A (p.Pro63=)
c.156T>A (p.Pro52=)
2g.31533638G>ACA346598476SRD5A2c.410C>T (p.Pro137Leu)
c.188C>T (p.Pro63Leu)
c.155C>T (p.Pro52Leu)
2g.31533638G>CCA346598477SRD5A2c.410C>G (p.Pro137Arg)
c.188C>G (p.Pro63Arg)
c.155C>G (p.Pro52Arg)
2g.31533638G>TCA346598478SRD5A2c.410C>A (p.Pro137His)
c.188C>A (p.Pro63His)
c.155C>A (p.Pro52His)
2g.31533639G>ACA346598479SRD5A2c.409C>T (p.Pro137Ser)
c.187C>T (p.Pro63Ser)
c.154C>T (p.Pro52Ser)
2g.31533639G>CCA346598480SRD5A2c.409C>G (p.Pro137Ala)
c.187C>G (p.Pro63Ala)
c.154C>G (p.Pro52Ala)
2g.31533639G>TCA346598481SRD5A2c.409C>A (p.Pro137Thr)
c.187C>A (p.Pro63Thr)
c.154C>A (p.Pro52Thr)
2g.31533640G>ACA425568258SRD5A2c.408C>T (p.Tyr136=)
c.186C>T (p.Tyr62=)
c.153C>T (p.Tyr51=)
 ClinVar gnomAD v4
2g.31533640G>CCA346598482SRD5A2c.408C>G (p.Tyr136Ter)
c.186C>G (p.Tyr62Ter)
c.153C>G (p.Tyr51Ter)
 gnomAD v4
2g.31533640G=CA1242199320SRD5A2c.408C= (p.Tyr136=)
c.186C= (p.Tyr62=)
c.153C= (p.Tyr51=)
2g.31533640G>TCA346598483SRD5A2c.408C>A (p.Tyr136Ter)
c.186C>A (p.Tyr62Ter)
c.153C>A (p.Tyr51Ter)
 dbSNP
2g.31533641T>ACA346598484SRD5A2c.407A>T (p.Tyr136Phe)
c.185A>T (p.Tyr62Phe)
c.152A>T (p.Tyr51Phe)
2g.31533641T>CCA346598485SRD5A2c.407A>G (p.Tyr136Cys)
c.185A>G (p.Tyr62Cys)
c.152A>G (p.Tyr51Cys)
2g.31533641T>GCA346598486SRD5A2c.407A>C (p.Tyr136Ser)
c.185A>C (p.Tyr62Ser)
c.152A>C (p.Tyr51Ser)
2g.31533642A>CCA346598489SRD5A2c.406T>G (p.Tyr136Asp)
c.184T>G (p.Tyr62Asp)
c.151T>G (p.Tyr51Asp)
2g.31533642A>GCA346598488SRD5A2c.406T>C (p.Tyr136His)
c.184T>C (p.Tyr62His)
c.151T>C (p.Tyr51His)
2g.31533642A>TCA346598487SRD5A2c.406T>A (p.Tyr136Asn)
c.184T>A (p.Tyr62Asn)
c.151T>A (p.Tyr51Asn)
2g.31533643T>ACA346598490SRD5A2c.405A>T (p.Glu135Asp)
c.183A>T (p.Glu61Asp)
c.150A>T (p.Glu50Asp)
2g.31533643T>CCA425568264SRD5A2c.405A>G (p.Glu135=)
c.183A>G (p.Glu61=)
c.150A>G (p.Glu50=)
2g.31533643T>GCA346598491SRD5A2c.405A>C (p.Glu135Asp)
c.183A>C (p.Glu61Asp)
c.150A>C (p.Glu50Asp)
2g.31533644T>ACA346598492SRD5A2c.404A>T (p.Glu135Val)
c.182A>T (p.Glu61Val)
c.149A>T (p.Glu50Val)
2g.31533644T>CCA346598493SRD5A2c.404A>G (p.Glu135Gly)
c.182A>G (p.Glu61Gly)
c.149A>G (p.Glu50Gly)
2g.31533644T>GCA346598494SRD5A2c.404A>C (p.Glu135Ala)
c.182A>C (p.Glu61Ala)
c.149A>C (p.Glu50Ala)
2g.31533645C>ACA346598495SRD5A2c.403G>T (p.Glu135Ter)
c.181G>T (p.Glu61Ter)
c.148G>T (p.Glu50Ter)
2g.31533645C>GCA346598496SRD5A2c.403G>C (p.Glu135Gln)
c.181G>C (p.Glu61Gln)
c.148G>C (p.Glu50Gln)
2g.31533645C>TCA346598497SRD5A2c.403G>A (p.Glu135Lys)
c.181G>A (p.Glu61Lys)
c.148G>A (p.Glu50Lys)
 ClinVar gnomAD v4
2g.31533646A=CA1242199321SRD5A2c.402T= (p.Ala134=)
c.180T= (p.Ala60=)
c.147T= (p.Ala49=)
2g.31533646A>CCA425568269SRD5A2c.402T>G (p.Ala134=)
c.180T>G (p.Ala60=)
c.147T>G (p.Ala49=)
2g.31533646A>GCA425568271SRD5A2c.402T>C (p.Ala134=)
c.180T>C (p.Ala60=)
c.147T>C (p.Ala49=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533646A>TCA425568272SRD5A2c.402T>A (p.Ala134=)
c.180T>A (p.Ala60=)
c.147T>A (p.Ala49=)
2g.31533647G>ACA346598498SRD5A2c.401C>T (p.Ala134Val)
c.179C>T (p.Ala60Val)
c.146C>T (p.Ala49Val)
 gnomAD v4
2g.31533647G>CCA346598499SRD5A2c.401C>G (p.Ala134Gly)
c.179C>G (p.Ala60Gly)
c.146C>G (p.Ala49Gly)
2g.31533647G>TCA346598500SRD5A2c.401C>A (p.Ala134Asp)
c.179C>A (p.Ala60Asp)
c.146C>A (p.Ala49Asp)
2g.31533648C>ACA346598503SRD5A2c.400G>T (p.Ala134Ser)
c.178G>T (p.Ala60Ser)
c.145G>T (p.Ala49Ser)
 gnomAD v4
2g.31533648C>GCA346598502SRD5A2c.400G>C (p.Ala134Pro)
c.178G>C (p.Ala60Pro)
c.145G>C (p.Ala49Pro)
2g.31533648C>TCA346598501SRD5A2c.400G>A (p.Ala134Thr)
c.178G>A (p.Ala60Thr)
c.145G>A (p.Ala49Thr)
2g.31533649A>CCA346598504SRD5A2c.399T>G (p.Cys133Trp)
c.177T>G (p.Cys59Trp)
c.144T>G (p.Cys48Trp)
2g.31533649A>GCA425568278SRD5A2c.399T>C (p.Cys133=)
c.177T>C (p.Cys59=)
c.144T>C (p.Cys48=)
 gnomAD v4
2g.31533649A>TCA346598505SRD5A2c.399T>A (p.Cys133Ter)
c.177T>A (p.Cys59Ter)
c.144T>A (p.Cys48Ter)
2g.31533650C>ACA1599948SRD5A2c.398G>T (p.Cys133Phe)
c.176G>T (p.Cys59Phe)
c.143G>T (p.Cys48Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533650C=CA1242199322SRD5A2c.398G= (p.Cys133=)
c.176G= (p.Cys59=)
c.143G= (p.Cys48=)
2g.31533650C>GCA346598506SRD5A2c.398G>C (p.Cys133Ser)
c.176G>C (p.Cys59Ser)
c.143G>C (p.Cys48Ser)
2g.31533650C>TCA1599947SRD5A2c.398G>A (p.Cys133Tyr)
c.176G>A (p.Cys59Tyr)
c.143G>A (p.Cys48Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533651A>CCA346598507SRD5A2c.397T>G (p.Cys133Gly)
c.175T>G (p.Cys59Gly)
c.142T>G (p.Cys48Gly)
 gnomAD v4
2g.31533651A>GCA346598508SRD5A2c.397T>C (p.Cys133Arg)
c.175T>C (p.Cys59Arg)
c.142T>C (p.Cys48Arg)
 gnomAD v4
2g.31533651A>TCA346598509SRD5A2c.397T>A (p.Cys133Ser)
c.175T>A (p.Cys59Ser)
c.142T>A (p.Cys48Ser)
2g.31533652G>ACA425568283SRD5A2c.396C>T (p.Tyr132=)
c.174C>T (p.Tyr58=)
c.141C>T (p.Tyr47=)
 dbSNP gnomAD v2 gnomAD v4
2g.31533652G>CCA346598510SRD5A2c.396C>G (p.Tyr132Ter)
c.174C>G (p.Tyr58Ter)
c.141C>G (p.Tyr47Ter)
2g.31533652G=CA1242199323SRD5A2c.396C= (p.Tyr132=)
c.174C= (p.Tyr58=)
c.141C= (p.Tyr47=)
2g.31533652G>TCA346598511SRD5A2c.396C>A (p.Tyr132Ter)
c.174C>A (p.Tyr58Ter)
c.141C>A (p.Tyr47Ter)
2g.31533653T>ACA346598512SRD5A2c.395A>T (p.Tyr132Phe)
c.173A>T (p.Tyr58Phe)
c.140A>T (p.Tyr47Phe)
2g.31533653T>CCA346598513SRD5A2c.395A>G (p.Tyr132Cys)
c.173A>G (p.Tyr58Cys)
c.140A>G (p.Tyr47Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.31533653T>GCA346598514SRD5A2c.395A>C (p.Tyr132Ser)
c.173A>C (p.Tyr58Ser)
c.140A>C (p.Tyr47Ser)
2g.31533653T=CA1242199324SRD5A2c.395A= (p.Tyr132=)
c.173A= (p.Tyr58=)
c.140A= (p.Tyr47=)
2g.31533654A>CCA346598517SRD5A2c.394T>G (p.Tyr132Asp)
c.172T>G (p.Tyr58Asp)
c.139T>G (p.Tyr47Asp)
2g.31533654A>GCA346598515SRD5A2c.394T>C (p.Tyr132His)
c.172T>C (p.Tyr58His)
c.139T>C (p.Tyr47His)
2g.31533654A>TCA346598516SRD5A2c.394T>A (p.Tyr132Asn)
c.172T>A (p.Tyr58Asn)
c.139T>A (p.Tyr47Asn)
2g.31533655A>CCA346598518SRD5A2c.393T>G (p.Ile131Met)
c.171T>G (p.Ile57Met)
c.138T>G (p.Ile46Met)
2g.31533655A>GCA425568290SRD5A2c.393T>C (p.Ile131=)
c.171T>C (p.Ile57=)
c.138T>C (p.Ile46=)
2g.31533655A>TCA425568291SRD5A2c.393T>A (p.Ile131=)
c.171T>A (p.Ile57=)
c.138T>A (p.Ile46=)
2g.31533656A>CCA346598519SRD5A2c.392T>G (p.Ile131Ser)
c.170T>G (p.Ile57Ser)
c.137T>G (p.Ile46Ser)
2g.31533656A>GCA346598520SRD5A2c.392T>C (p.Ile131Thr)
c.170T>C (p.Ile57Thr)
c.137T>C (p.Ile46Thr)
2g.31533656A>TCA346598521SRD5A2c.392T>A (p.Ile131Asn)
c.170T>A (p.Ile57Asn)
c.137T>A (p.Ile46Asn)
2g.31533657T>ACA346598522SRD5A2c.391A>T (p.Ile131Phe)
c.169A>T (p.Ile57Phe)
c.136A>T (p.Ile46Phe)
2g.31533657T>CCA346598523SRD5A2c.391A>G (p.Ile131Val)
c.169A>G (p.Ile57Val)
c.136A>G (p.Ile46Val)
2g.31533657T>GCA346598524SRD5A2c.391A>C (p.Ile131Leu)
c.169A>C (p.Ile57Leu)
c.136A>C (p.Ile46Leu)
2g.31533658C>ACA425568297SRD5A2c.390G>T (p.Leu130=)
c.168G>T (p.Leu56=)
c.135G>T (p.Leu45=)
2g.31533658C>GCA425568298SRD5A2c.390G>C (p.Leu130=)
c.168G>C (p.Leu56=)
c.135G>C (p.Leu45=)
 gnomAD v4
2g.31533658C>TCA425568300SRD5A2c.390G>A (p.Leu130=)
c.168G>A (p.Leu56=)
c.135G>A (p.Leu45=)
2g.31533658_31533673delinsCAGATAGTAGCCTTGACA1242199325SRD5A2c.375_390delinsTCAAGGCTACTATCTG (p.Leu125=)
c.153_168delinsTCAAGGCTACTATCTG (p.Leu51=)
c.120_135delinsTCAAGGCTACTATCTG (p.Leu40=)
2g.31533659A>CCA346598525SRD5A2c.389T>G (p.Leu130Arg)
c.167T>G (p.Leu56Arg)
c.134T>G (p.Leu45Arg)
2g.31533659A>GCA346598526SRD5A2c.389T>C (p.Leu130Pro)
c.167T>C (p.Leu56Pro)
c.134T>C (p.Leu45Pro)
2g.31533659A>TCA346598527SRD5A2c.389T>A (p.Leu130Gln)
c.167T>A (p.Leu56Gln)
c.134T>A (p.Leu45Gln)
2g.31533661_31533675delCA1242199326SRD5A2c.375_389del (p.Gln126_Leu130del)
c.153_167del (p.Gln52_Leu56del)
c.120_134del (p.Gln41_Leu45del)
 dbSNP
2g.31533660G>ACA425568303SRD5A2c.388C>T (p.Leu130=)
c.166C>T (p.Leu56=)
c.133C>T (p.Leu45=)
2g.31533660G>CCA1599949SRD5A2c.388C>G (p.Leu130Val)
c.166C>G (p.Leu56Val)
c.133C>G (p.Leu45Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533660G=CA1242199327SRD5A2c.388C= (p.Leu130=)
c.166C= (p.Leu56=)
c.133C= (p.Leu45=)
2g.31533660G>TCA346598528SRD5A2c.388C>A (p.Leu130Met)
c.166C>A (p.Leu56Met)
c.133C>A (p.Leu45Met)
 gnomAD v4
2g.31533661A>CCA346598530SRD5A2c.387T>G (p.Tyr129Ter)
c.165T>G (p.Tyr55Ter)
c.132T>G (p.Tyr44Ter)
2g.31533661A>GCA425568306SRD5A2c.387T>C (p.Tyr129=)
c.165T>C (p.Tyr55=)
c.132T>C (p.Tyr44=)
2g.31533661A>TCA346598529SRD5A2c.387T>A (p.Tyr129Ter)
c.165T>A (p.Tyr55Ter)
c.132T>A (p.Tyr44Ter)
2g.31533662T>ACA346598531SRD5A2c.386A>T (p.Tyr129Phe)
c.164A>T (p.Tyr55Phe)
c.131A>T (p.Tyr44Phe)
2g.31533662T>CCA1599950SRD5A2c.386A>G (p.Tyr129Cys)
c.164A>G (p.Tyr55Cys)
c.131A>G (p.Tyr44Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533662T>GCA45136778SRD5A2c.386A>C (p.Tyr129Ser)
c.164A>C (p.Tyr55Ser)
c.131A>C (p.Tyr44Ser)
 dbSNP gnomAD v4
2g.31533662T=CA1242199328SRD5A2c.386A= (p.Tyr129=)
c.164A= (p.Tyr55=)
c.131A= (p.Tyr44=)
2g.31533663A=CA1242199329SRD5A2c.385T= (p.Tyr129=)
c.163T= (p.Tyr55=)
c.130T= (p.Tyr44=)
2g.31533663A>CCA346598532SRD5A2c.385T>G (p.Tyr129Asp)
c.163T>G (p.Tyr55Asp)
c.130T>G (p.Tyr44Asp)
 ClinVar dbSNP
2g.31533663A>GCA346598533SRD5A2c.385T>C (p.Tyr129His)
c.163T>C (p.Tyr55His)
c.130T>C (p.Tyr44His)
2g.31533663A>TCA346598534SRD5A2c.385T>A (p.Tyr129Asn)
c.163T>A (p.Tyr55Asn)
c.130T>A (p.Tyr44Asn)
 COSMIC
2g.31533664G>ACA425568311SRD5A2c.384C>T (p.Tyr128=)
c.162C>T (p.Tyr54=)
c.129C>T (p.Tyr43=)
2g.31533664G>CCA346598535SRD5A2c.384C>G (p.Tyr128Ter)
c.162C>G (p.Tyr54Ter)
c.129C>G (p.Tyr43Ter)
 ClinVar dbSNP
2g.31533664G=CA1242199330SRD5A2c.384C= (p.Tyr128=)
c.162C= (p.Tyr54=)
c.129C= (p.Tyr43=)
2g.31533664G>TCA346598536SRD5A2c.384C>A (p.Tyr128Ter)
c.162C>A (p.Tyr54Ter)
c.129C>A (p.Tyr43Ter)
 gnomAD v4
2g.31533664_31533665delinsTCCA2580066367SRD5A2c.383_384delinsGA (p.Tyr128Ter)
c.161_162delinsGA (p.Tyr54Ter)
c.128_129delinsGA (p.Tyr43Ter)
 ClinVar
2g.31533664_31533672delCA2749375123SRD5A2c.376_384del (p.Gln126_Tyr128del)
c.154_162del (p.Gln52_Tyr54del)
c.121_129del (p.Gln41_Tyr43del)
2g.31533665T>ACA346598537SRD5A2c.383A>T (p.Tyr128Phe)
c.161A>T (p.Tyr54Phe)
c.128A>T (p.Tyr43Phe)
2g.31533665T>CCA1599951SRD5A2c.383A>G (p.Tyr128Cys)
c.161A>G (p.Tyr54Cys)
c.128A>G (p.Tyr43Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533665T>GCA346598538SRD5A2c.383A>C (p.Tyr128Ser)
c.161A>C (p.Tyr54Ser)
c.128A>C (p.Tyr43Ser)
2g.31533665T=CA1242199331SRD5A2c.383A= (p.Tyr128=)
c.161A= (p.Tyr54=)
c.128A= (p.Tyr43=)
2g.31533666A>CCA346598539SRD5A2c.382T>G (p.Tyr128Asp)
c.160T>G (p.Tyr54Asp)
c.127T>G (p.Tyr43Asp)
2g.31533666A>GCA346598540SRD5A2c.382T>C (p.Tyr128His)
c.160T>C (p.Tyr54His)
c.127T>C (p.Tyr43His)
2g.31533666A>TCA346598541SRD5A2c.382T>A (p.Tyr128Asn)
c.160T>A (p.Tyr54Asn)
c.127T>A (p.Tyr43Asn)
 ClinVar
2g.31533667G>ACA425568320SRD5A2c.381C>T (p.Gly127=)
c.159C>T (p.Gly53=)
c.126C>T (p.Gly42=)
2g.31533667G>CCA425568318SRD5A2c.381C>G (p.Gly127=)
c.159C>G (p.Gly53=)
c.126C>G (p.Gly42=)
2g.31533667G>TCA425568317SRD5A2c.381C>A (p.Gly127=)
c.159C>A (p.Gly53=)
c.126C>A (p.Gly42=)
 gnomAD v4
2g.31533668C>ACA346598544SRD5A2c.380G>T (p.Gly127Val)
c.158G>T (p.Gly53Val)
c.125G>T (p.Gly42Val)
 gnomAD v4
2g.31533668C>GCA346598543SRD5A2c.380G>C (p.Gly127Ala)
c.158G>C (p.Gly53Ala)
c.125G>C (p.Gly42Ala)
2g.31533668C>TCA346598542SRD5A2c.380G>A (p.Gly127Asp)
c.158G>A (p.Gly53Asp)
c.125G>A (p.Gly42Asp)
 COSMIC
2g.31533669C>ACA346598545SRD5A2c.379G>T (p.Gly127Cys)
c.157G>T (p.Gly53Cys)
c.124G>T (p.Gly42Cys)
 gnomAD v4
2g.31533669C>GCA346598546SRD5A2c.379G>C (p.Gly127Arg)
c.157G>C (p.Gly53Arg)
c.124G>C (p.Gly42Arg)
2g.31533669C>TCA346598547SRD5A2c.379G>A (p.Gly127Ser)
c.157G>A (p.Gly53Ser)
c.124G>A (p.Gly42Ser)
 COSMIC
2g.31533670T>ACA346598548SRD5A2c.378A>T (p.Gln126His)
c.156A>T (p.Gln52His)
c.123A>T (p.Gln41His)
2g.31533670T>CCA425568325SRD5A2c.378A>G (p.Gln126=)
c.156A>G (p.Gln52=)
c.123A>G (p.Gln41=)
2g.31533670T>GCA346598549SRD5A2c.378A>C (p.Gln126His)
c.156A>C (p.Gln52His)
c.123A>C (p.Gln41His)
2g.31533671T>ACA346598550SRD5A2c.377A>T (p.Gln126Leu)
c.155A>T (p.Gln52Leu)
c.122A>T (p.Gln41Leu)
2g.31533671T>CCA1599952SRD5A2c.377A>G (p.Gln126Arg)
c.155A>G (p.Gln52Arg)
c.122A>G (p.Gln41Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533671T>GCA346598551SRD5A2c.377A>C (p.Gln126Pro)
c.155A>C (p.Gln52Pro)
c.122A>C (p.Gln41Pro)
2g.31533671T=CA1242199332SRD5A2c.377A= (p.Gln126=)
c.155A= (p.Gln52=)
c.122A= (p.Gln41=)
2g.31533672G>ACA346598552SRD5A2c.376C>T (p.Gln126Ter)
c.154C>T (p.Gln52Ter)
c.121C>T (p.Gln41Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.31533672G>CCA346598553SRD5A2c.376C>G (p.Gln126Glu)
c.154C>G (p.Gln52Glu)
c.121C>G (p.Gln41Glu)
2g.31533672G=CA1242199333SRD5A2c.376C= (p.Gln126=)
c.154C= (p.Gln52=)
c.121C= (p.Gln41=)
2g.31533672G>TCA346598554SRD5A2c.376C>A (p.Gln126Lys)
c.154C>A (p.Gln52Lys)
c.121C>A (p.Gln41Lys)
 gnomAD v4
2g.31533673A>CCA425568330SRD5A2c.375T>G (p.Leu125=)
c.153T>G (p.Leu51=)
c.120T>G (p.Leu40=)
2g.31533673A>GCA425568332SRD5A2c.375T>C (p.Leu125=)
c.153T>C (p.Leu51=)
c.120T>C (p.Leu40=)
2g.31533673A>TCA425568331SRD5A2c.375T>A (p.Leu125=)
c.153T>A (p.Leu51=)
c.120T>A (p.Leu40=)
2g.31533674A>CCA346598555SRD5A2c.374T>G (p.Leu125Arg)
c.152T>G (p.Leu51Arg)
c.119T>G (p.Leu40Arg)
2g.31533674A>GCA346598556SRD5A2c.374T>C (p.Leu125Pro)
c.152T>C (p.Leu51Pro)
c.119T>C (p.Leu40Pro)
 gnomAD v4
2g.31533674A>TCA346598557SRD5A2c.374T>A (p.Leu125His)
c.152T>A (p.Leu51His)
c.119T>A (p.Leu40His)
2g.31533675G>ACA346598559SRD5A2c.373C>T (p.Leu125Phe)
c.151C>T (p.Leu51Phe)
c.118C>T (p.Leu40Phe)
2g.31533675G>CCA346598560SRD5A2c.373C>G (p.Leu125Val)
c.151C>G (p.Leu51Val)
c.118C>G (p.Leu40Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533675G=CA1242199334SRD5A2c.373C= (p.Leu125=)
c.151C= (p.Leu51=)
c.118C= (p.Leu40=)
2g.31533675G>TCA346598558SRD5A2c.373C>A (p.Leu125Ile)
c.151C>A (p.Leu51Ile)
c.118C>A (p.Leu40Ile)
 gnomAD v4
2g.31533676delCA2658499248SRD5A2c.373del (p.Leu125PhefsTer6)
c.151del (p.Leu51PhefsTer6)
c.118del (p.Leu40PhefsTer6)
 gnomAD v4
2g.31533676G>ACA425568337SRD5A2c.372C>T (p.Val124=)
c.150C>T (p.Val50=)
c.117C>T (p.Val39=)
 dbSNP
2g.31533676G>CCA425568338SRD5A2c.372C>G (p.Val124=)
c.150C>G (p.Val50=)
c.117C>G (p.Val39=)
2g.31533676G=CA1242199335SRD5A2c.372C= (p.Val124=)
c.150C= (p.Val50=)
c.117C= (p.Val39=)
2g.31533676G>TCA425568340SRD5A2c.372C>A (p.Val124=)
c.150C>A (p.Val50=)
c.117C>A (p.Val39=)
2g.31533677A=CA1242199336SRD5A2c.371T= (p.Val124=)
c.149T= (p.Val50=)
c.116T= (p.Val39=)
2g.31533677A>CCA346598561SRD5A2c.371T>G (p.Val124Gly)
c.149T>G (p.Val50Gly)
c.116T>G (p.Val39Gly)
2g.31533677A>GCA346598562SRD5A2c.371T>C (p.Val124Ala)
c.149T>C (p.Val50Ala)
c.116T>C (p.Val39Ala)
2g.31533677A>TCA346598563SRD5A2c.371T>A (p.Val124Asp)
c.149T>A (p.Val50Asp)
c.116T>A (p.Val39Asp)
 dbSNP gnomAD v4
2g.31533678C>ACA346598564SRD5A2c.370G>T (p.Val124Phe)
c.148G>T (p.Val50Phe)
c.115G>T (p.Val39Phe)
 gnomAD v4
2g.31533678C>GCA346598565SRD5A2c.370G>C (p.Val124Leu)
c.148G>C (p.Val50Leu)
c.115G>C (p.Val39Leu)
2g.31533678C>TCA346598566SRD5A2c.370G>A (p.Val124Ile)
c.148G>A (p.Val50Ile)
c.115G>A (p.Val39Ile)
 gnomAD v4
2g.31533679T>ACA425568345SRD5A2c.369A>T (p.Gly123=)
c.147A>T (p.Gly49=)
c.114A>T (p.Gly38=)
 gnomAD v4
2g.31533679T>CCA425568346SRD5A2c.369A>G (p.Gly123=)
c.147A>G (p.Gly49=)
c.114A>G (p.Gly38=)
 gnomAD v4
2g.31533679T>GCA425568347SRD5A2c.369A>C (p.Gly123=)
c.147A>C (p.Gly49=)
c.114A>C (p.Gly38=)
2g.31533680C>ACA346598567SRD5A2c.368G>T (p.Gly123Val)
c.146G>T (p.Gly49Val)
c.113G>T (p.Gly38Val)
 gnomAD v4
2g.31533680C>GCA346598568SRD5A2c.368G>C (p.Gly123Ala)
c.146G>C (p.Gly49Ala)
c.113G>C (p.Gly38Ala)
 gnomAD v4
2g.31533680C>TCA346598569SRD5A2c.368G>A (p.Gly123Glu)
c.146G>A (p.Gly49Glu)
c.113G>A (p.Gly38Glu)
 gnomAD v4
2g.31533681C>ACA346598570SRD5A2c.367G>T (p.Gly123Ter)
c.145G>T (p.Gly49Ter)
c.112G>T (p.Gly38Ter)
2g.31533681C=CA1242199337SRD5A2c.367G= (p.Gly123=)
c.145G= (p.Gly49=)
c.112G= (p.Gly38=)
2g.31533681C>GCA346598571SRD5A2c.367G>C (p.Gly123Arg)
c.145G>C (p.Gly49Arg)
c.112G>C (p.Gly38Arg)
2g.31533681C>TCA346598572SRD5A2c.367G>A (p.Gly123Arg)
c.145G>A (p.Gly49Arg)
c.112G>A (p.Gly38Arg)
 dbSNP gnomAD v4
2g.31533682A=CA1242199339SRD5A2c.366T= (p.Asn122=)
c.144T= (p.Asn48=)
c.111T= (p.Asn37=)
2g.31533682A>CCA346598574SRD5A2c.366T>G (p.Asn122Lys)
c.144T>G (p.Asn48Lys)
c.111T>G (p.Asn37Lys)
2g.31533682A>GCA1599953SRD5A2c.366T>C (p.Asn122=)
c.144T>C (p.Asn48=)
c.111T>C (p.Asn37=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533682A>TCA346598573SRD5A2c.366T>A (p.Asn122Lys)
c.144T>A (p.Asn48Lys)
c.111T>A (p.Asn37Lys)
2g.31533682_31533683delinsATCA1242199338SRD5A2c.365_366delinsAT (p.Asn122=)
c.143_144delinsAT (p.Asn48=)
c.110_111delinsAT (p.Asn37=)
2g.31533683T>ACA346598575SRD5A2c.365A>T (p.Asn122Ile)
c.143A>T (p.Asn48Ile)
c.110A>T (p.Asn37Ile)
2g.31533683T>CCA346598576SRD5A2c.365A>G (p.Asn122Ser)
c.143A>G (p.Asn48Ser)
c.110A>G (p.Asn37Ser)
2g.31533683T>GCA346598577SRD5A2c.365A>C (p.Asn122Thr)
c.143A>C (p.Asn48Thr)
c.110A>C (p.Asn37Thr)
2g.31533685delCA45136779SRD5A2c.365del (p.Asn122MetfsTer9)
c.143del (p.Asn48MetfsTer9)
c.110del (p.Asn37MetfsTer9)
 dbSNP
2g.31533684T>ACA346598579SRD5A2c.364A>T (p.Asn122Tyr)
c.142A>T (p.Asn48Tyr)
c.109A>T (p.Asn37Tyr)
2g.31533684T>CCA1599954SRD5A2c.364A>G (p.Asn122Asp)
c.142A>G (p.Asn48Asp)
c.109A>G (p.Asn37Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533684T>GCA346598578SRD5A2c.364A>C (p.Asn122His)
c.142A>C (p.Asn48His)
c.109A>C (p.Asn37His)
2g.31533684T=CA1242199340SRD5A2c.364A= (p.Asn122=)
c.142A= (p.Asn48=)
c.109A= (p.Asn37=)
2g.31533685T>ACA425568358SRD5A2c.363A>T (p.Gly121=)
c.141A>T (p.Gly47=)
c.108A>T (p.Gly36=)
2g.31533685T>CCA425568359SRD5A2c.363A>G (p.Gly121=)
c.141A>G (p.Gly47=)
c.108A>G (p.Gly36=)
 gnomAD v4
2g.31533685T>GCA425568360SRD5A2c.363A>C (p.Gly121=)
c.141A>C (p.Gly47=)
c.108A>C (p.Gly36=)
2g.31533686C>ACA346598580SRD5A2c.362G>T (p.Gly121Val)
c.140G>T (p.Gly47Val)
c.107G>T (p.Gly36Val)
 gnomAD v4
2g.31533686C>GCA346598581SRD5A2c.362G>C (p.Gly121Ala)
c.140G>C (p.Gly47Ala)
c.107G>C (p.Gly36Ala)
2g.31533686C>TCA346598582SRD5A2c.362G>A (p.Gly121Glu)
c.140G>A (p.Gly47Glu)
c.107G>A (p.Gly36Glu)
 COSMIC
2g.31533687C>ACA346598583SRD5A2c.361G>T (p.Gly121Ter)
c.139G>T (p.Gly47Ter)
c.106G>T (p.Gly36Ter)
2g.31533687C>GCA346598584SRD5A2c.361G>C (p.Gly121Arg)
c.139G>C (p.Gly47Arg)
c.106G>C (p.Gly36Arg)
2g.31533687C>TCA346598585SRD5A2c.361G>A (p.Gly121Arg)
c.139G>A (p.Gly47Arg)
c.106G>A (p.Gly36Arg)
 gnomAD v4
2g.31533688A>CCA425568363SRD5A2c.360T>G (p.Thr120=)
c.138T>G (p.Thr46=)
c.105T>G (p.Thr35=)
2g.31533688A>GCA425568364SRD5A2c.360T>C (p.Thr120=)
c.138T>C (p.Thr46=)
c.105T>C (p.Thr35=)
 gnomAD v4
2g.31533688A>TCA425568365SRD5A2c.360T>A (p.Thr120=)
c.138T>A (p.Thr46=)
c.105T>A (p.Thr35=)
2g.31533689G>ACA346598586SRD5A2c.359C>T (p.Thr120Ile)
c.137C>T (p.Thr46Ile)
c.104C>T (p.Thr35Ile)
2g.31533689G>CCA346598588SRD5A2c.359C>G (p.Thr120Ser)
c.137C>G (p.Thr46Ser)
c.104C>G (p.Thr35Ser)
 gnomAD v4
2g.31533689G>TCA346598587SRD5A2c.359C>A (p.Thr120Asn)
c.137C>A (p.Thr46Asn)
c.104C>A (p.Thr35Asn)
 gnomAD v4
2g.31533690T>ACA346598589SRD5A2c.358A>T (p.Thr120Ser)
c.136A>T (p.Thr46Ser)
c.103A>T (p.Thr35Ser)
2g.31533690T>CCA346598590SRD5A2c.358A>G (p.Thr120Ala)
c.136A>G (p.Thr46Ala)
c.103A>G (p.Thr35Ala)
 dbSNP gnomAD v2
2g.31533690T>GCA1599955SRD5A2c.358A>C (p.Thr120Pro)
c.136A>C (p.Thr46Pro)
c.103A>C (p.Thr35Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533690T=CA1242199341SRD5A2c.358A= (p.Thr120=)
c.136A= (p.Thr46=)
c.103A= (p.Thr35=)
2g.31533691delCA2573134597SRD5A2c.357del (p.Cys119Ter)
c.135del (p.Cys45Ter)
c.102del (p.Cys34Ter)
 ClinVar dbSNP gnomAD v4
2g.31533691G>ACA425568370SRD5A2c.357C>T (p.Cys119=)
c.135C>T (p.Cys45=)
c.102C>T (p.Cys34=)
 gnomAD v4
2g.31533691G>CCA346598591SRD5A2c.357C>G (p.Cys119Trp)
c.135C>G (p.Cys45Trp)
c.102C>G (p.Cys34Trp)
2g.31533691G>TCA346598592SRD5A2c.357C>A (p.Cys119Ter)
c.135C>A (p.Cys45Ter)
c.102C>A (p.Cys34Ter)
 gnomAD v4
2g.31533692C>ACA346598593SRD5A2c.356G>T (p.Cys119Phe)
c.134G>T (p.Cys45Phe)
c.101G>T (p.Cys34Phe)
 gnomAD v4
2g.31533692C=CA1242199342SRD5A2c.356G= (p.Cys119=)
c.134G= (p.Cys45=)
c.101G= (p.Cys34=)
2g.31533692C>GCA346598594SRD5A2c.356G>C (p.Cys119Ser)
c.134G>C (p.Cys45Ser)
c.101G>C (p.Cys34Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.31533692C>TCA346598595SRD5A2c.356G>A (p.Cys119Tyr)
c.134G>A (p.Cys45Tyr)
c.101G>A (p.Cys34Tyr)
 COSMIC
2g.31533693A>CCA346598596SRD5A2c.355T>G (p.Cys119Gly)
c.133T>G (p.Cys45Gly)
c.100T>G (p.Cys34Gly)
2g.31533693A>GCA346598597SRD5A2c.355T>C (p.Cys119Arg)
c.133T>C (p.Cys45Arg)
c.100T>C (p.Cys34Arg)
2g.31533693A>TCA346598598SRD5A2c.355T>A (p.Cys119Ser)
c.133T>A (p.Cys45Ser)
c.100T>A (p.Cys34Ser)
2g.31533694G>ACA425568375SRD5A2c.354C>T (p.Phe118=)
c.132C>T (p.Phe44=)
c.99C>T (p.Phe33=)
2g.31533694G>CCA45136780SRD5A2c.354C>G (p.Phe118Leu)
c.132C>G (p.Phe44Leu)
c.99C>G (p.Phe33Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533694G=CA1242199343SRD5A2c.354C= (p.Phe118=)
c.132C= (p.Phe44=)
c.99C= (p.Phe33=)
2g.31533694G>TCA1599956SRD5A2c.354C>A (p.Phe118Leu)
c.132C>A (p.Phe44Leu)
c.99C>A (p.Phe33Leu)
 dbSNP ExAC gnomAD v4
2g.31533695A>CCA346598599SRD5A2c.353T>G (p.Phe118Cys)
c.131T>G (p.Phe44Cys)
c.98T>G (p.Phe33Cys)
2g.31533695A>GCA346598600SRD5A2c.353T>C (p.Phe118Ser)
c.131T>C (p.Phe44Ser)
c.98T>C (p.Phe33Ser)
2g.31533695A>TCA346598601SRD5A2c.353T>A (p.Phe118Tyr)
c.131T>A (p.Phe44Tyr)
c.98T>A (p.Phe33Tyr)
2g.31533696A=CA1242199344SRD5A2c.352T= (p.Phe118=)
c.130T= (p.Phe44=)
c.97T= (p.Phe33=)
2g.31533696A>CCA346598602SRD5A2c.352T>G (p.Phe118Val)
c.130T>G (p.Phe44Val)
c.97T>G (p.Phe33Val)
 dbSNP
2g.31533696A>GCA346598604SRD5A2c.352T>C (p.Phe118Leu)
c.130T>C (p.Phe44Leu)
c.97T>C (p.Phe33Leu)
2g.31533696A>TCA346598603SRD5A2c.352T>A (p.Phe118Ile)
c.130T>A (p.Phe44Ile)
c.97T>A (p.Phe33Ile)
2g.31533697G>ACA425568381SRD5A2c.351C>T (p.Ala117=)
c.129C>T (p.Ala43=)
c.96C>T (p.Ala32=)
2g.31533697G>CCA425568383SRD5A2c.351C>G (p.Ala117=)
c.129C>G (p.Ala43=)
c.96C>G (p.Ala32=)
2g.31533697G>TCA425568384SRD5A2c.351C>A (p.Ala117=)
c.129C>A (p.Ala43=)
c.96C>A (p.Ala32=)
 gnomAD v4
2g.31533698G>ACA1599957SRD5A2c.350C>T (p.Ala117Val)
c.128C>T (p.Ala43Val)
c.95C>T (p.Ala32Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533698G>CCA346598605SRD5A2c.350C>G (p.Ala117Gly)
c.128C>G (p.Ala43Gly)
c.95C>G (p.Ala32Gly)
 gnomAD v4
2g.31533698G=CA1242199345SRD5A2c.350C= (p.Ala117=)
c.128C= (p.Ala43=)
c.95C= (p.Ala32=)
2g.31533698G>TCA346598606SRD5A2c.350C>A (p.Ala117Asp)
c.128C>A (p.Ala43Asp)
c.95C>A (p.Ala32Asp)
 gnomAD v4
2g.31533699C>ACA346598607SRD5A2c.349G>T (p.Ala117Ser)
c.127G>T (p.Ala43Ser)
c.94G>T (p.Ala32Ser)
2g.31533699C>GCA346598608SRD5A2c.349G>C (p.Ala117Pro)
c.127G>C (p.Ala43Pro)
c.94G>C (p.Ala32Pro)
2g.31533699C>TCA346598609SRD5A2c.349G>A (p.Ala117Thr)
c.127G>A (p.Ala43Thr)
c.94G>A (p.Ala32Thr)
 gnomAD v4 COSMIC
2g.31533700A>CCA425568389SRD5A2c.348T>G (p.Thr116=)
c.126T>G (p.Thr42=)
c.93T>G (p.Thr31=)
 gnomAD v4
2g.31533700A>GCA425568391SRD5A2c.348T>C (p.Thr116=)
c.126T>C (p.Thr42=)
c.93T>C (p.Thr31=)
2g.31533700A>TCA425568392SRD5A2c.348T>A (p.Thr116=)
c.126T>A (p.Thr42=)
c.93T>A (p.Thr31=)
2g.31533701G>ACA346598610SRD5A2c.347C>T (p.Thr116Ile)
c.125C>T (p.Thr42Ile)
c.92C>T (p.Thr31Ile)
 dbSNP
2g.31533701G>CCA346598611SRD5A2c.347C>G (p.Thr116Ser)
c.125C>G (p.Thr42Ser)
c.92C>G (p.Thr31Ser)
2g.31533701G>TCA346598612SRD5A2c.347C>A (p.Thr116Asn)
c.125C>A (p.Thr42Asn)
c.92C>A (p.Thr31Asn)
2g.31533702T>ACA346598614SRD5A2c.346A>T (p.Thr116Ser)
c.124A>T (p.Thr42Ser)
c.91A>T (p.Thr31Ser)
2g.31533702T>CCA45136781SRD5A2c.346A>G (p.Thr116Ala)
c.124A>G (p.Thr42Ala)
c.91A>G (p.Thr31Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533702T>GCA346598613SRD5A2c.346A>C (p.Thr116Pro)
c.124A>C (p.Thr42Pro)
c.91A>C (p.Thr31Pro)
2g.31533702T=CA1242199346SRD5A2c.346A= (p.Thr116=)
c.124A= (p.Thr42=)
c.91A= (p.Thr31=)
2g.31533703G>ACA425568397SRD5A2c.345C>T (p.Gly115=)
c.123C>T (p.Gly41=)
c.90C>T (p.Gly30=)
2g.31533703G>CCA425568400SRD5A2c.345C>G (p.Gly115=)
c.123C>G (p.Gly41=)
c.90C>G (p.Gly30=)
2g.31533703G>TCA425568399SRD5A2c.345C>A (p.Gly115=)
c.123C>A (p.Gly41=)
c.90C>A (p.Gly30=)
 gnomAD v4
2g.31533704C>ACA346598615SRD5A2c.344G>T (p.Gly115Val)
c.122G>T (p.Gly41Val)
c.89G>T (p.Gly30Val)
2g.31533704C=CA1242199347SRD5A2c.344G= (p.Gly115=)
c.122G= (p.Gly41=)
c.89G= (p.Gly30=)
2g.31533704C>GCA346598616SRD5A2c.344G>C (p.Gly115Ala)
c.122G>C (p.Gly41Ala)
c.89G>C (p.Gly30Ala)
2g.31533704C>TCA340070SRD5A2c.344G>A (p.Gly115Asp)
c.122G>A (p.Gly41Asp)
c.89G>A (p.Gly30Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533705C>ACA346598617SRD5A2c.343G>T (p.Gly115Cys)
c.121G>T (p.Gly41Cys)
c.88G>T (p.Gly30Cys)
 gnomAD v4
2g.31533705C>GCA346598618SRD5A2c.343G>C (p.Gly115Arg)
c.121G>C (p.Gly41Arg)
c.88G>C (p.Gly30Arg)
2g.31533705C>TCA346598619SRD5A2c.343G>A (p.Gly115Ser)
c.121G>A (p.Gly41Ser)
c.88G>A (p.Gly30Ser)
 gnomAD v4
2g.31533706T>ACA346598621SRD5A2c.342A>T (p.Arg114Ser)
c.120A>T (p.Arg40Ser)
c.87A>T (p.Arg29Ser)
 gnomAD v4 COSMIC
2g.31533706T>CCA425568406SRD5A2c.342A>G (p.Arg114=)
c.120A>G (p.Arg40=)
c.87A>G (p.Arg29=)
 gnomAD v4
2g.31533706T>GCA346598620SRD5A2c.342A>C (p.Arg114Ser)
c.120A>C (p.Arg40Ser)
c.87A>C (p.Arg29Ser)
2g.31533707C>ACA346598622SRD5A2c.341G>T (p.Arg114Ile)
c.119G>T (p.Arg40Ile)
c.86G>T (p.Arg29Ile)
2g.31533707C>GCA346598623SRD5A2c.341G>C (p.Arg114Thr)
c.119G>C (p.Arg40Thr)
c.86G>C (p.Arg29Thr)
2g.31533707C>TCA346598624SRD5A2c.341G>A (p.Arg114Lys)
c.119G>A (p.Arg40Lys)
c.86G>A (p.Arg29Lys)
 gnomAD v4
2g.31533708T>ACA346598625SRD5A2c.340A>T (p.Arg114Ter)
c.118A>T (p.Arg40Ter)
c.85A>T (p.Arg29Ter)
2g.31533708T>CCA346598626SRD5A2c.340A>G (p.Arg114Gly)
c.118A>G (p.Arg40Gly)
c.85A>G (p.Arg29Gly)
 gnomAD v4
2g.31533708T>GCA425568410SRD5A2c.340A>C (p.Arg114=)
c.118A>C (p.Arg40=)
c.85A>C (p.Arg29=)
2g.31533709G>ACA1599958SRD5A2c.339C>T (p.Leu113=)
c.117C>T (p.Leu39=)
c.84C>T (p.Leu28=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533709G>CCA425568413SRD5A2c.339C>G (p.Leu113=)
c.117C>G (p.Leu39=)
c.84C>G (p.Leu28=)
2g.31533709G=CA1242199348SRD5A2c.339C= (p.Leu113=)
c.117C= (p.Leu39=)
c.84C= (p.Leu28=)
2g.31533709G>TCA425568415SRD5A2c.339C>A (p.Leu113=)
c.117C>A (p.Leu39=)
c.84C>A (p.Leu28=)
 gnomAD v4
2g.31533710A=CA1242199349SRD5A2c.338T= (p.Leu113=)
c.116T= (p.Leu39=)
c.83T= (p.Leu28=)
2g.31533710A>CCA346598627SRD5A2c.338T>G (p.Leu113Arg)
c.116T>G (p.Leu39Arg)
c.83T>G (p.Leu28Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533710A>GCA346598629SRD5A2c.338T>C (p.Leu113Pro)
c.116T>C (p.Leu39Pro)
c.83T>C (p.Leu28Pro)
2g.31533710A>TCA346598628SRD5A2c.338T>A (p.Leu113His)
c.116T>A (p.Leu39His)
c.83T>A (p.Leu28His)
2g.31533711G>ACA346598630SRD5A2c.337C>T (p.Leu113Phe)
c.115C>T (p.Leu39Phe)
c.82C>T (p.Leu28Phe)
2g.31533711G>CCA1599959SRD5A2c.337C>G (p.Leu113Val)
c.115C>G (p.Leu39Val)
c.82C>G (p.Leu28Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533711G=CA1242199350SRD5A2c.337C= (p.Leu113=)
c.115C= (p.Leu39=)
c.82C= (p.Leu28=)
2g.31533711G>TCA346598631SRD5A2c.337C>A (p.Leu113Ile)
c.115C>A (p.Leu39Ile)
c.82C>A (p.Leu28Ile)
 gnomAD v4 COSMIC
2g.31533712A>CCA346598632SRD5A2c.336T>G (p.Ile112Met)
c.114T>G (p.Ile38Met)
c.81T>G (p.Ile27Met)
2g.31533712A>GCA425568421SRD5A2c.336T>C (p.Ile112=)
c.114T>C (p.Ile38=)
c.81T>C (p.Ile27=)
 gnomAD v4
2g.31533712A>TCA425568422SRD5A2c.336T>A (p.Ile112=)
c.114T>A (p.Ile38=)
c.81T>A (p.Ile27=)
2g.31533713A=CA1242199351SRD5A2c.335T= (p.Ile112=)
c.113T= (p.Ile38=)
c.80T= (p.Ile27=)
2g.31533713A>CCA346598633SRD5A2c.335T>G (p.Ile112Ser)
c.113T>G (p.Ile38Ser)
c.80T>G (p.Ile27Ser)
2g.31533713A>GCA346598634SRD5A2c.335T>C (p.Ile112Thr)
c.113T>C (p.Ile38Thr)
c.80T>C (p.Ile27Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.31533713A>TCA1599960SRD5A2c.335T>A (p.Ile112Asn)
c.113T>A (p.Ile38Asn)
c.80T>A (p.Ile27Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533714T>ACA346598635SRD5A2c.334A>T (p.Ile112Phe)
c.112A>T (p.Ile38Phe)
c.79A>T (p.Ile27Phe)
2g.31533714T>CCA346598636SRD5A2c.334A>G (p.Ile112Val)
c.112A>G (p.Ile38Val)
c.79A>G (p.Ile27Val)
2g.31533714T>GCA346598637SRD5A2c.334A>C (p.Ile112Leu)
c.112A>C (p.Ile38Leu)
c.79A>C (p.Ile27Leu)
 gnomAD v4
2g.31533714_31533716delinsTGACA1242199352SRD5A2c.332_334delinsTCA (p.Leu111=)
c.110_112delinsTCA (p.Leu37=)
c.77_79delinsTCA (p.Leu26=)
2g.31533715G>ACA45136782SRD5A2c.333C>T (p.Leu111=)
c.111C>T (p.Leu37=)
c.78C>T (p.Leu26=)
 ClinVar dbSNP gnomAD v4
2g.31533715G>CCA425568428SRD5A2c.333C>G (p.Leu111=)
c.111C>G (p.Leu37=)
c.78C>G (p.Leu26=)
2g.31533715G=CA1242199353SRD5A2c.333C= (p.Leu111=)
c.111C= (p.Leu37=)
c.78C= (p.Leu26=)
2g.31533715G>TCA425568430SRD5A2c.333C>A (p.Leu111=)
c.111C>A (p.Leu37=)
c.78C>A (p.Leu26=)
 gnomAD v4
2g.31533716_31533717delCA767761813SRD5A2c.332_333del (p.Leu111HisfsTer24)
c.110_111del (p.Leu37HisfsTer24)
c.77_78del (p.Leu26HisfsTer24)
 dbSNP gnomAD v3 gnomAD v4
2g.31533716A>CCA346598640SRD5A2c.332T>G (p.Leu111Arg)
c.110T>G (p.Leu37Arg)
c.77T>G (p.Leu26Arg)
2g.31533716A>GCA346598639SRD5A2c.332T>C (p.Leu111Pro)
c.110T>C (p.Leu37Pro)
c.77T>C (p.Leu26Pro)
2g.31533716A>TCA346598638SRD5A2c.332T>A (p.Leu111His)
c.110T>A (p.Leu37His)
c.77T>A (p.Leu26His)
2g.31533717G>ACA346598641SRD5A2c.331C>T (p.Leu111Phe)
c.109C>T (p.Leu37Phe)
c.76C>T (p.Leu26Phe)
2g.31533717G>CCA346598642SRD5A2c.331C>G (p.Leu111Val)
c.109C>G (p.Leu37Val)
c.76C>G (p.Leu26Val)
 dbSNP gnomAD v2 gnomAD v4
2g.31533717G=CA1242199354SRD5A2c.331C= (p.Leu111=)
c.109C= (p.Leu37=)
c.76C= (p.Leu26=)
2g.31533717G>TCA1599961SRD5A2c.331C>A (p.Leu111Ile)
c.109C>A (p.Leu37Ile)
c.76C>A (p.Leu26Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533718T>ACA425568434SRD5A2c.330A>T (p.Ile110=)
c.108A>T (p.Ile36=)
c.75A>T (p.Ile25=)
2g.31533718T>CCA346598643SRD5A2c.330A>G (p.Ile110Met)
c.108A>G (p.Ile36Met)
c.75A>G (p.Ile25Met)
 gnomAD v4
2g.31533718T>GCA425568436SRD5A2c.330A>C (p.Ile110=)
c.108A>C (p.Ile36=)
c.75A>C (p.Ile25=)
2g.31533719A>CCA346598645SRD5A2c.329T>G (p.Ile110Arg)
c.107T>G (p.Ile36Arg)
c.74T>G (p.Ile25Arg)
2g.31533719A>GCA346598644SRD5A2c.329T>C (p.Ile110Thr)
c.107T>C (p.Ile36Thr)
c.74T>C (p.Ile25Thr)
 gnomAD v4
2g.31533719A>TCA346598646SRD5A2c.329T>A (p.Ile110Lys)
c.107T>A (p.Ile36Lys)
c.74T>A (p.Ile25Lys)
2g.31533720T>ACA346598647SRD5A2c.328A>T (p.Ile110Leu)
c.106A>T (p.Ile36Leu)
c.73A>T (p.Ile25Leu)
2g.31533720T>CCA1599962SRD5A2c.328A>G (p.Ile110Val)
c.106A>G (p.Ile36Val)
c.73A>G (p.Ile25Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533720T>GCA346598648SRD5A2c.328A>C (p.Ile110Leu)
c.106A>C (p.Ile36Leu)
c.73A>C (p.Ile25Leu)
 gnomAD v4
2g.31533720T=CA1242199355SRD5A2c.328A= (p.Ile110=)
c.106A= (p.Ile36=)
c.73A= (p.Ile25=)
2g.31533721A>CCA425568441SRD5A2c.327T>G (p.Ala109=)
c.105T>G (p.Ala35=)
c.72T>G (p.Ala24=)
2g.31533721A>GCA425568443SRD5A2c.327T>C (p.Ala109=)
c.105T>C (p.Ala35=)
c.72T>C (p.Ala24=)
 gnomAD v4
2g.31533721A>TCA425568444SRD5A2c.327T>A (p.Ala109=)
c.105T>A (p.Ala35=)
c.72T>A (p.Ala24=)
 COSMIC
2g.31533722G>ACA346598649SRD5A2c.326C>T (p.Ala109Val)
c.104C>T (p.Ala35Val)
c.71C>T (p.Ala24Val)
 dbSNP gnomAD v3 gnomAD v4
2g.31533722G>CCA346598650SRD5A2c.326C>G (p.Ala109Gly)
c.104C>G (p.Ala35Gly)
c.71C>G (p.Ala24Gly)
2g.31533722G=CA1242199356SRD5A2c.326C= (p.Ala109=)
c.104C= (p.Ala35=)
c.71C= (p.Ala24=)
2g.31533722G>TCA346598651SRD5A2c.326C>A (p.Ala109Asp)
c.104C>A (p.Ala35Asp)
c.71C>A (p.Ala24Asp)
 gnomAD v4

Number of alleles fetched