Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.31533658_31533673delinsCAGATAGTAGCCTTGACA1242199325SRD5A2c.375_390delinsTCAAGGCTACTATCTG (p.Leu125=)
c.153_168delinsTCAAGGCTACTATCTG (p.Leu51=)
c.120_135delinsTCAAGGCTACTATCTG (p.Leu40=)
2g.31533661_31533675delCA1242199326SRD5A2c.375_389del (p.Gln126_Leu130del)
c.153_167del (p.Gln52_Leu56del)
c.120_134del (p.Gln41_Leu45del)
 dbSNP
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)

Number of alleles fetched