Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.31533723C>ACA346598652SRD5A2c.325G>T (p.Ala109Ser)
c.103G>T (p.Ala35Ser)
c.70G>T (p.Ala24Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.31533723C=CA1242199357SRD5A2c.325G= (p.Ala109=)
c.103G= (p.Ala35=)
c.70G= (p.Ala24=)
2g.31533723C>GCA346598653SRD5A2c.325G>C (p.Ala109Pro)
c.103G>C (p.Ala35Pro)
c.70G>C (p.Ala24Pro)
 gnomAD v4
2g.31533723C>TCA346598654SRD5A2c.325G>A (p.Ala109Thr)
c.103G>A (p.Ala35Thr)
c.70G>A (p.Ala24Thr)
 dbSNP gnomAD v4
2g.31533724T>ACA425568449SRD5A2c.324A>T (p.Pro108=)
c.102A>T (p.Pro34=)
c.69A>T (p.Pro23=)
 gnomAD v4
2g.31533724T>CCA425568452SRD5A2c.324A>G (p.Pro108=)
c.102A>G (p.Pro34=)
c.69A>G (p.Pro23=)
 dbSNP gnomAD v4
2g.31533724T>GCA425568451SRD5A2c.324A>C (p.Pro108=)
c.102A>C (p.Pro34=)
c.69A>C (p.Pro23=)
2g.31533724T=CA1242199358SRD5A2c.324A= (p.Pro108=)
c.102A= (p.Pro34=)
c.69A= (p.Pro23=)
2g.31533725G>ACA346598655SRD5A2c.323C>T (p.Pro108Leu)
c.101C>T (p.Pro34Leu)
c.68C>T (p.Pro23Leu)
2g.31533725G>CCA346598656SRD5A2c.323C>G (p.Pro108Arg)
c.101C>G (p.Pro34Arg)
c.68C>G (p.Pro23Arg)
2g.31533725G>TCA346598657SRD5A2c.323C>A (p.Pro108Gln)
c.101C>A (p.Pro34Gln)
c.68C>A (p.Pro23Gln)
 gnomAD v4
2g.31533726G>ACA346598658SRD5A2c.322C>T (p.Pro108Ser)
c.100C>T (p.Pro34Ser)
c.67C>T (p.Pro23Ser)
2g.31533726G>CCA346598660SRD5A2c.322C>G (p.Pro108Ala)
c.100C>G (p.Pro34Ala)
c.67C>G (p.Pro23Ala)
 COSMIC
2g.31533726G>TCA346598659SRD5A2c.322C>A (p.Pro108Thr)
c.100C>A (p.Pro34Thr)
c.67C>A (p.Pro23Thr)
 gnomAD v4
2g.31533727A=CA1242199359SRD5A2c.321T= (p.Tyr107=)
c.99T= (p.Tyr33=)
c.66T= (p.Tyr22=)
2g.31533727A>CCA346598661SRD5A2c.321T>G (p.Tyr107Ter)
c.99T>G (p.Tyr33Ter)
c.66T>G (p.Tyr22Ter)
2g.31533727A>GCA1599963SRD5A2c.321T>C (p.Tyr107=)
c.99T>C (p.Tyr33=)
c.66T>C (p.Tyr22=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533727A>TCA346598662SRD5A2c.321T>A (p.Tyr107Ter)
c.99T>A (p.Tyr33Ter)
c.66T>A (p.Tyr22Ter)
 ClinVar dbSNP gnomAD v4
2g.31533728T>ACA346598663SRD5A2c.320A>T (p.Tyr107Phe)
c.98A>T (p.Tyr33Phe)
c.65A>T (p.Tyr22Phe)
2g.31533728T>CCA346598664SRD5A2c.320A>G (p.Tyr107Cys)
c.98A>G (p.Tyr33Cys)
c.65A>G (p.Tyr22Cys)
 dbSNP
2g.31533728T>GCA346598665SRD5A2c.320A>C (p.Tyr107Ser)
c.98A>C (p.Tyr33Ser)
c.65A>C (p.Tyr22Ser)
2g.31533728T=CA1242199360SRD5A2c.320A= (p.Tyr107=)
c.98A= (p.Tyr33=)
c.65A= (p.Tyr22=)
2g.31533729A>CCA346598666SRD5A2c.319T>G (p.Tyr107Asp)
c.97T>G (p.Tyr33Asp)
c.64T>G (p.Tyr22Asp)
2g.31533729A>GCA346598667SRD5A2c.319T>C (p.Tyr107His)
c.97T>C (p.Tyr33His)
c.64T>C (p.Tyr22His)
 gnomAD v4
2g.31533729A>TCA346598668SRD5A2c.319T>A (p.Tyr107Asn)
c.97T>A (p.Tyr33Asn)
c.64T>A (p.Tyr22Asn)
2g.31533730A>CCA425568464SRD5A2c.318T>G (p.Pro106=)
c.96T>G (p.Pro32=)
c.63T>G (p.Pro21=)
 gnomAD v4
2g.31533730A>GCA425568465SRD5A2c.318T>C (p.Pro106=)
c.96T>C (p.Pro32=)
c.63T>C (p.Pro21=)
 ClinVar gnomAD v2 gnomAD v4
2g.31533730A>TCA425568466SRD5A2c.318T>A (p.Pro106=)
c.96T>A (p.Pro32=)
c.63T>A (p.Pro21=)
 gnomAD v4
2g.31533730_31533731delinsAGCA1242199361SRD5A2c.317_318delinsCT (p.Pro106=)
c.95_96delinsCT (p.Pro32=)
c.62_63delinsCT (p.Pro21=)
2g.31533731G>ACA1599964SRD5A2c.317C>T (p.Pro106Leu)
c.95C>T (p.Pro32Leu)
c.62C>T (p.Pro21Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533731G>CCA346598670SRD5A2c.317C>G (p.Pro106Arg)
c.95C>G (p.Pro32Arg)
c.62C>G (p.Pro21Arg)
2g.31533731G=CA1242199362SRD5A2c.317C= (p.Pro106=)
c.95C= (p.Pro32=)
c.62C= (p.Pro21=)
2g.31533731G>TCA346598669SRD5A2c.317C>A (p.Pro106His)
c.95C>A (p.Pro32His)
c.62C>A (p.Pro21His)
2g.31533732delCA45136783SRD5A2c.317del (p.Pro106LeufsTer25)
c.95del (p.Pro32LeufsTer25)
c.62del (p.Pro21LeufsTer25)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533732G>ACA45136784SRD5A2c.316C>T (p.Pro106Ser)
c.94C>T (p.Pro32Ser)
c.61C>T (p.Pro21Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.31533732G>CCA1599965SRD5A2c.316C>G (p.Pro106Ala)
c.94C>G (p.Pro32Ala)
c.61C>G (p.Pro21Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533732G=CA1242199363SRD5A2c.316C= (p.Pro106=)
c.94C= (p.Pro32=)
c.61C= (p.Pro21=)
2g.31533732G>TCA346598671SRD5A2c.316C>A (p.Pro106Thr)
c.94C>A (p.Pro32Thr)
c.61C>A (p.Pro21Thr)
 gnomAD v4
2g.31533733C>ACA346598672SRD5A2c.315G>T (p.Arg105Ser)
c.93G>T (p.Arg31Ser)
c.60G>T (p.Arg20Ser)
2g.31533733C>GCA346598673SRD5A2c.315G>C (p.Arg105Ser)
c.93G>C (p.Arg31Ser)
c.60G>C (p.Arg20Ser)
2g.31533733C>TCA425568474SRD5A2c.315G>A (p.Arg105=)
c.93G>A (p.Arg31=)
c.60G>A (p.Arg20=)
 gnomAD v4
2g.31533734C>ACA346598675SRD5A2c.314G>T (p.Arg105Met)
c.92G>T (p.Arg31Met)
c.59G>T (p.Arg20Met)
 gnomAD v4
2g.31533734C=CA1242199364SRD5A2c.314G= (p.Arg105=)
c.92G= (p.Arg31=)
c.59G= (p.Arg20=)
2g.31533734C>GCA346598674SRD5A2c.314G>C (p.Arg105Thr)
c.92G>C (p.Arg31Thr)
c.59G>C (p.Arg20Thr)
 COSMIC
2g.31533734C>TCA45136785SRD5A2c.314G>A (p.Arg105Lys)
c.92G>A (p.Arg31Lys)
c.59G>A (p.Arg20Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.31533735T>ACA346598676SRD5A2c.313A>T (p.Arg105Trp)
c.91A>T (p.Arg31Trp)
c.58A>T (p.Arg20Trp)
2g.31533735T>CCA346598677SRD5A2c.313A>G (p.Arg105Gly)
c.91A>G (p.Arg31Gly)
c.58A>G (p.Arg20Gly)
2g.31533735T>GCA425568477SRD5A2c.313A>C (p.Arg105=)
c.91A>C (p.Arg31=)
c.58A>C (p.Arg20=)
2g.31533736C>ACA425568479SRD5A2c.312G>T (p.Gly104=)
c.90G>T (p.Gly30=)
c.57G>T (p.Gly19=)
 gnomAD v4
2g.31533736C=CA1242199365SRD5A2c.312G= (p.Gly104=)
c.90G= (p.Gly30=)
c.57G= (p.Gly19=)
2g.31533736C>GCA425568481SRD5A2c.312G>C (p.Gly104=)
c.90G>C (p.Gly30=)
c.57G>C (p.Gly19=)
2g.31533736C>TCA425568480SRD5A2c.312G>A (p.Gly104=)
c.90G>A (p.Gly30=)
c.57G>A (p.Gly19=)
 ClinVar dbSNP gnomAD v2
2g.31533738delCA2658499286SRD5A2c.312del (p.Arg105GlyfsTer26)
c.90del (p.Arg31GlyfsTer26)
c.57del (p.Arg20GlyfsTer26)
 ClinVar gnomAD v4
2g.31533737C>ACA346598678SRD5A2c.311G>T (p.Gly104Val)
c.89G>T (p.Gly30Val)
c.56G>T (p.Gly19Val)
 gnomAD v4
2g.31533737C=CA1242199366SRD5A2c.311G= (p.Gly104=)
c.89G= (p.Gly30=)
c.56G= (p.Gly19=)
2g.31533737C>GCA346598679SRD5A2c.311G>C (p.Gly104Ala)
c.89G>C (p.Gly30Ala)
c.56G>C (p.Gly19Ala)
2g.31533737C>TCA1599966SRD5A2c.311G>A (p.Gly104Glu)
c.89G>A (p.Gly30Glu)
c.56G>A (p.Gly19Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533738C>ACA346598680SRD5A2c.310G>T (p.Gly104Trp)
c.88G>T (p.Gly30Trp)
c.55G>T (p.Gly19Trp)
 dbSNP gnomAD v4
2g.31533738C=CA1242199367SRD5A2c.310G= (p.Gly104=)
c.88G= (p.Gly30=)
c.55G= (p.Gly19=)
2g.31533738C>GCA346598682SRD5A2c.310G>C (p.Gly104Arg)
c.88G>C (p.Gly30Arg)
c.55G>C (p.Gly19Arg)
 dbSNP gnomAD v4
2g.31533738C>TCA346598681SRD5A2c.310G>A (p.Gly104Arg)
c.88G>A (p.Gly30Arg)
c.55G>A (p.Gly19Arg)
2g.31533739T>ACA425568486SRD5A2c.309A>T (p.Arg103=)
c.87A>T (p.Arg29=)
c.54A>T (p.Arg18=)
2g.31533739T>CCA425568489SRD5A2c.309A>G (p.Arg103=)
c.87A>G (p.Arg29=)
c.54A>G (p.Arg18=)
2g.31533739T>GCA425568487SRD5A2c.309A>C (p.Arg103=)
c.87A>C (p.Arg29=)
c.54A>C (p.Arg18=)
2g.31533740C>ACA346598683SRD5A2c.308G>T (p.Arg103Leu)
c.86G>T (p.Arg29Leu)
c.53G>T (p.Arg18Leu)
 gnomAD v4
2g.31533740C=CA1242199368SRD5A2c.308G= (p.Arg103=)
c.86G= (p.Arg29=)
c.53G= (p.Arg18=)
2g.31533740C>GCA346598684SRD5A2c.308G>C (p.Arg103Pro)
c.86G>C (p.Arg29Pro)
c.53G>C (p.Arg18Pro)
2g.31533740C>TCA1599967SRD5A2c.308G>A (p.Arg103Gln)
c.86G>A (p.Arg29Gln)
c.53G>A (p.Arg18Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.31533741G>ACA1599969SRD5A2c.307C>T (p.Arg103Ter)
c.85C>T (p.Arg29Ter)
c.52C>T (p.Arg18Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533741G>CCA346598685SRD5A2c.307C>G (p.Arg103Gly)
c.85C>G (p.Arg29Gly)
c.52C>G (p.Arg18Gly)
2g.31533741G=CA1242199369SRD5A2c.307C= (p.Arg103=)
c.85C= (p.Arg29=)
c.52C= (p.Arg18=)
2g.31533741G>TCA1599968SRD5A2c.307C>A (p.Arg103=)
c.85C>A (p.Arg29=)
c.52C>A (p.Arg18=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533742A=CA1242199370SRD5A2c.306T= (p.Asn102=)
c.84T= (p.Asn28=)
c.51T= (p.Asn17=)
2g.31533742A>CCA346598686SRD5A2c.306T>G (p.Asn102Lys)
c.84T>G (p.Asn28Lys)
c.51T>G (p.Asn17Lys)
2g.31533742A>GCA425568493SRD5A2c.306T>C (p.Asn102=)
c.84T>C (p.Asn28=)
c.51T>C (p.Asn17=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533742A>TCA346598687SRD5A2c.306T>A (p.Asn102Lys)
c.84T>A (p.Asn28Lys)
c.51T>A (p.Asn17Lys)
 dbSNP
2g.31533743T>ACA346598688SRD5A2c.305A>T (p.Asn102Ile)
c.83A>T (p.Asn28Ile)
c.50A>T (p.Asn17Ile)
2g.31533743T>CCA346598689SRD5A2c.305A>G (p.Asn102Ser)
c.83A>G (p.Asn28Ser)
c.50A>G (p.Asn17Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.31533743T>GCA346598690SRD5A2c.305A>C (p.Asn102Thr)
c.83A>C (p.Asn28Thr)
c.50A>C (p.Asn17Thr)
2g.31533743T=CA1242199371SRD5A2c.305A= (p.Asn102=)
c.83A= (p.Asn28=)
c.50A= (p.Asn17=)
2g.31533744T>ACA346598692SRD5A2c.304A>T (p.Asn102Tyr)
c.82A>T (p.Asn28Tyr)
c.49A>T (p.Asn17Tyr)
2g.31533744T>CCA346598693SRD5A2c.304A>G (p.Asn102Asp)
c.82A>G (p.Asn28Asp)
c.49A>G (p.Asn17Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.31533744T>GCA346598691SRD5A2c.304A>C (p.Asn102His)
c.82A>C (p.Asn28His)
c.49A>C (p.Asn17His)
2g.31533744T=CA1242199372SRD5A2c.304A= (p.Asn102=)
c.82A= (p.Asn28=)
c.49A= (p.Asn17=)
2g.31533745G>ACA425568499SRD5A2c.303C>T (p.Leu101=)
c.81C>T (p.Leu27=)
c.48C>T (p.Leu16=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533745G>CCA425568501SRD5A2c.303C>G (p.Leu101=)
c.81C>G (p.Leu27=)
c.48C>G (p.Leu16=)
2g.31533745G=CA1242199373SRD5A2c.303C= (p.Leu101=)
c.81C= (p.Leu27=)
c.48C= (p.Leu16=)
2g.31533745G>TCA425568503SRD5A2c.303C>A (p.Leu101=)
c.81C>A (p.Leu27=)
c.48C>A (p.Leu16=)
 gnomAD v4
2g.31533746A>CCA346598696SRD5A2c.302T>G (p.Leu101Arg)
c.80T>G (p.Leu27Arg)
c.47T>G (p.Leu16Arg)
2g.31533746A>GCA346598694SRD5A2c.302T>C (p.Leu101Pro)
c.80T>C (p.Leu27Pro)
c.47T>C (p.Leu16Pro)
 gnomAD v4
2g.31533746A>TCA346598695SRD5A2c.302T>A (p.Leu101His)
c.80T>A (p.Leu27His)
c.47T>A (p.Leu16His)
2g.31533747G>ACA1599970SRD5A2c.301C>T (p.Leu101Phe)
c.79C>T (p.Leu27Phe)
c.46C>T (p.Leu16Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533747G>CCA346598697SRD5A2c.301C>G (p.Leu101Val)
c.79C>G (p.Leu27Val)
c.46C>G (p.Leu16Val)
 gnomAD v4
2g.31533747G=CA1242199374SRD5A2c.301C= (p.Leu101=)
c.79C= (p.Leu27=)
c.46C= (p.Leu16=)
2g.31533747G>TCA346598698SRD5A2c.301C>A (p.Leu101Ile)
c.79C>A (p.Leu27Ile)
c.46C>A (p.Leu16Ile)
 gnomAD v4
2g.31533748C>ACA425568509SRD5A2c.300G>T (p.Leu100=)
c.78G>T (p.Leu26=)
c.45G>T (p.Leu15=)
 gnomAD v4
2g.31533748C=CA1242199375SRD5A2c.300G= (p.Leu100=)
c.78G= (p.Leu26=)
c.45G= (p.Leu15=)
2g.31533748C>GCA425568511SRD5A2c.300G>C (p.Leu100=)
c.78G>C (p.Leu26=)
c.45G>C (p.Leu15=)
2g.31533748C>TCA1599971SRD5A2c.300G>A (p.Leu100=)
c.78G>A (p.Leu26=)
c.45G>A (p.Leu15=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533749A>CCA346598701SRD5A2c.299T>G (p.Leu100Arg)
c.77T>G (p.Leu26Arg)
c.44T>G (p.Leu15Arg)
2g.31533749A>GCA346598699SRD5A2c.299T>C (p.Leu100Pro)
c.77T>C (p.Leu26Pro)
c.44T>C (p.Leu15Pro)
 gnomAD v4
2g.31533749A>TCA346598700SRD5A2c.299T>A (p.Leu100Gln)
c.77T>A (p.Leu26Gln)
c.44T>A (p.Leu15Gln)
 gnomAD v4
2g.31533750G>ACA425568514SRD5A2c.298C>T (p.Leu100=)
c.76C>T (p.Leu26=)
c.43C>T (p.Leu15=)
 gnomAD v4
2g.31533750G>CCA346598702SRD5A2c.298C>G (p.Leu100Val)
c.76C>G (p.Leu26Val)
c.43C>G (p.Leu15Val)
2g.31533750G>TCA346598703SRD5A2c.298C>A (p.Leu100Met)
c.76C>A (p.Leu26Met)
c.43C>A (p.Leu15Met)
2g.31533751T>ACA425568517SRD5A2c.297A>T (p.Ser99=)
c.75A>T (p.Ser25=)
c.42A>T (p.Ser14=)
2g.31533751T>CCA425568518SRD5A2c.297A>G (p.Ser99=)
c.75A>G (p.Ser25=)
c.42A>G (p.Ser14=)
2g.31533751T>GCA425568519SRD5A2c.297A>C (p.Ser99=)
c.75A>C (p.Ser25=)
c.42A>C (p.Ser14=)
2g.31533752G>ACA346598704SRD5A2c.296C>T (p.Ser99Leu)
c.74C>T (p.Ser25Leu)
c.41C>T (p.Ser14Leu)
 gnomAD v4
2g.31533752G>CCA346598705SRD5A2c.296C>G (p.Ser99Ter)
c.74C>G (p.Ser25Ter)
c.41C>G (p.Ser14Ter)
2g.31533752G>TCA346598706SRD5A2c.296C>A (p.Ser99Ter)
c.74C>A (p.Ser25Ter)
c.41C>A (p.Ser14Ter)
 gnomAD v4
2g.31533753A>CCA346598707SRD5A2c.295T>G (p.Ser99Ala)
c.73T>G (p.Ser25Ala)
c.40T>G (p.Ser14Ala)
2g.31533753A>GCA346598709SRD5A2c.295T>C (p.Ser99Pro)
c.73T>C (p.Ser25Pro)
c.40T>C (p.Ser14Pro)
2g.31533753A>TCA346598708SRD5A2c.295T>A (p.Ser99Thr)
c.73T>A (p.Ser25Thr)
c.40T>A (p.Ser14Thr)
2g.31533754G>ACA425568525SRD5A2c.294C>T (p.Tyr98=)
c.72C>T (p.Tyr24=)
c.39C>T (p.Tyr13=)
 gnomAD v4
2g.31533754G>CCA346598710SRD5A2c.294C>G (p.Tyr98Ter)
c.72C>G (p.Tyr24Ter)
c.39C>G (p.Tyr13Ter)
2g.31533754G>TCA346598711SRD5A2c.294C>A (p.Tyr98Ter)
c.72C>A (p.Tyr24Ter)
c.39C>A (p.Tyr13Ter)
2g.31533755delCA2658499287SRD5A2c.293del (p.Tyr98SerfsTer?)
c.71del (p.Tyr24SerfsTer?)
c.38del (p.Tyr13SerfsTer?)
 gnomAD v4
2g.31533755T>ACA346598712SRD5A2c.293A>T (p.Tyr98Phe)
c.71A>T (p.Tyr24Phe)
c.38A>T (p.Tyr13Phe)
2g.31533755T>CCA346598713SRD5A2c.293A>G (p.Tyr98Cys)
c.71A>G (p.Tyr24Cys)
c.38A>G (p.Tyr13Cys)
 gnomAD v4
2g.31533755T>GCA346598714SRD5A2c.293A>C (p.Tyr98Ser)
c.71A>C (p.Tyr24Ser)
c.38A>C (p.Tyr13Ser)

Number of alleles fetched