Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.31529407C>ACA346598044SRD5A2c.598G>T (p.Glu200Ter)
c.376G>T (p.Glu126Ter)
c.343G>T (p.Glu115Ter)
2g.31529407C=CA1242197411SRD5A2c.598G= (p.Glu200=)
c.376G= (p.Glu126=)
c.343G= (p.Glu115=)
2g.31529407C>GCA346598045SRD5A2c.598G>C (p.Glu200Gln)
c.376G>C (p.Glu126Gln)
c.343G>C (p.Glu115Gln)
2g.31529407C>TCA1599881SRD5A2c.598G>A (p.Glu200Lys)
c.376G>A (p.Glu126Lys)
c.343G>A (p.Glu115Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529408A>CCA346598046SRD5A2c.597T>G (p.Ile199Met)
c.375T>G (p.Ile125Met)
c.342T>G (p.Ile114Met)
 gnomAD v4
2g.31529408A>GCA425567468SRD5A2c.597T>C (p.Ile199=)
c.375T>C (p.Ile125=)
c.342T>C (p.Ile114=)
2g.31529408A>TCA425567467SRD5A2c.597T>A (p.Ile199=)
c.375T>A (p.Ile125=)
c.342T>A (p.Ile114=)
2g.31529409A=CA1242197412SRD5A2c.596T= (p.Ile199=)
c.374T= (p.Ile125=)
c.341T= (p.Ile114=)
2g.31529409A>CCA346598047SRD5A2c.596T>G (p.Ile199Ser)
c.374T>G (p.Ile125Ser)
c.341T>G (p.Ile114Ser)
2g.31529409A>GCA45136318SRD5A2c.596T>C (p.Ile199Thr)
c.374T>C (p.Ile125Thr)
c.341T>C (p.Ile114Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.31529409A>TCA1599882SRD5A2c.596T>A (p.Ile199Asn)
c.374T>A (p.Ile125Asn)
c.341T>A (p.Ile114Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529410T>ACA346598048SRD5A2c.595A>T (p.Ile199Phe)
c.373A>T (p.Ile125Phe)
c.340A>T (p.Ile114Phe)
 gnomAD v4
2g.31529410T>CCA346598049SRD5A2c.595A>G (p.Ile199Val)
c.373A>G (p.Ile125Val)
c.340A>G (p.Ile114Val)
2g.31529410T>GCA346598050SRD5A2c.595A>C (p.Ile199Leu)
c.373A>C (p.Ile125Leu)
c.340A>C (p.Ile114Leu)
2g.31529411G>ACA1599883SRD5A2c.594C>T (p.Ile198=)
c.372C>T (p.Ile124=)
c.339C>T (p.Ile113=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529411G>CCA346598051SRD5A2c.594C>G (p.Ile198Met)
c.372C>G (p.Ile124Met)
c.339C>G (p.Ile113Met)
2g.31529411G=CA1242197413SRD5A2c.594C= (p.Ile198=)
c.372C= (p.Ile124=)
c.339C= (p.Ile113=)
2g.31529411G>TCA425567469SRD5A2c.594C>A (p.Ile198=)
c.372C>A (p.Ile124=)
c.339C>A (p.Ile113=)
 gnomAD v4
2g.31529412A>CCA346598052SRD5A2c.593T>G (p.Ile198Ser)
c.371T>G (p.Ile124Ser)
c.338T>G (p.Ile113Ser)
2g.31529412A>GCA346598053SRD5A2c.593T>C (p.Ile198Thr)
c.371T>C (p.Ile124Thr)
c.338T>C (p.Ile113Thr)
2g.31529412A>TCA346598054SRD5A2c.593T>A (p.Ile198Asn)
c.371T>A (p.Ile124Asn)
c.338T>A (p.Ile113Asn)
 gnomAD v4
2g.31529413T>ACA346598055SRD5A2c.592A>T (p.Ile198Phe)
c.370A>T (p.Ile124Phe)
c.337A>T (p.Ile113Phe)
2g.31529413T>CCA346598056SRD5A2c.592A>G (p.Ile198Val)
c.370A>G (p.Ile124Val)
c.337A>G (p.Ile113Val)
2g.31529413T>GCA346598057SRD5A2c.592A>C (p.Ile198Leu)
c.370A>C (p.Ile124Leu)
c.337A>C (p.Ile113Leu)
2g.31529414C>ACA340085SRD5A2c.591G>T (p.Glu197Asp)
c.369G>T (p.Glu123Asp)
c.336G>T (p.Glu112Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529414C=CA1242197414SRD5A2c.591G= (p.Glu197=)
c.369G= (p.Glu123=)
c.336G= (p.Glu112=)
2g.31529414C>GCA346598058SRD5A2c.591G>C (p.Glu197Asp)
c.369G>C (p.Glu123Asp)
c.336G>C (p.Glu112Asp)
2g.31529414C>TCA425567470SRD5A2c.591G>A (p.Glu197=)
c.369G>A (p.Glu123=)
c.336G>A (p.Glu112=)
 gnomAD v4
2g.31529415T>ACA346598059SRD5A2c.590A>T (p.Glu197Val)
c.368A>T (p.Glu123Val)
c.335A>T (p.Glu112Val)
2g.31529415T>CCA346598061SRD5A2c.590A>G (p.Glu197Gly)
c.368A>G (p.Glu123Gly)
c.335A>G (p.Glu112Gly)
2g.31529415T>GCA346598060SRD5A2c.590A>C (p.Glu197Ala)
c.368A>C (p.Glu123Ala)
c.335A>C (p.Glu112Ala)
2g.31529416C>ACA346598062SRD5A2c.589G>T (p.Glu197Ter)
c.367G>T (p.Glu123Ter)
c.334G>T (p.Glu112Ter)
2g.31529416C=CA1242197415SRD5A2c.589G= (p.Glu197=)
c.367G= (p.Glu123=)
c.334G= (p.Glu112=)
2g.31529416C>GCA346598063SRD5A2c.589G>C (p.Glu197Gln)
c.367G>C (p.Glu123Gln)
c.334G>C (p.Glu112Gln)
2g.31529416C>TCA1599884SRD5A2c.589G>A (p.Glu197Lys)
c.367G>A (p.Glu123Lys)
c.334G>A (p.Glu112Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529417A=CA1242197416SRD5A2c.588T= (p.Gly196=)
c.366T= (p.Gly122=)
c.333T= (p.Gly111=)
2g.31529417A>CCA1599885SRD5A2c.588T>G (p.Gly196=)
c.366T>G (p.Gly122=)
c.333T>G (p.Gly111=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529417A>GCA425567471SRD5A2c.588T>C (p.Gly196=)
c.366T>C (p.Gly122=)
c.333T>C (p.Gly111=)
2g.31529417A>TCA425567472SRD5A2c.588T>A (p.Gly196=)
c.366T>A (p.Gly122=)
c.333T>A (p.Gly111=)
2g.31529417_31529418delinsACCA1242197417SRD5A2c.587_588delinsGT (p.Gly196=)
c.365_366delinsGT (p.Gly122=)
c.332_333delinsGT (p.Gly111=)
2g.31529418C>ACA346598064SRD5A2c.587G>T (p.Gly196Val)
c.365G>T (p.Gly122Val)
c.332G>T (p.Gly111Val)
2g.31529418C>GCA346598065SRD5A2c.587G>C (p.Gly196Ala)
c.365G>C (p.Gly122Ala)
c.332G>C (p.Gly111Ala)
2g.31529418C>TCA346598066SRD5A2c.587G>A (p.Gly196Asp)
c.365G>A (p.Gly122Asp)
c.332G>A (p.Gly111Asp)
 ClinVar
2g.31529419delCA1599886SRD5A2c.587del (p.Gly196ValfsTer?)
c.365del (p.Gly122ValfsTer?)
c.332del (p.Gly111ValfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529419C>ACA346598067SRD5A2c.586G>T (p.Gly196Cys)
c.364G>T (p.Gly122Cys)
c.331G>T (p.Gly111Cys)
 dbSNP
2g.31529419C=CA1242197418SRD5A2c.586G= (p.Gly196=)
c.364G= (p.Gly122=)
c.331G= (p.Gly111=)
2g.31529419C>GCA346598068SRD5A2c.586G>C (p.Gly196Arg)
c.364G>C (p.Gly122Arg)
c.331G>C (p.Gly111Arg)
 ClinVar dbSNP
2g.31529419C>TCA340079SRD5A2c.586G>A (p.Gly196Ser)
c.364G>A (p.Gly122Ser)
c.331G>A (p.Gly111Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529420G>ACA224918SRD5A2c.585C>T (p.Leu195=)
c.363C>T (p.Leu121=)
c.330C>T (p.Leu110=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529420G>CCA425567473SRD5A2c.585C>G (p.Leu195=)
c.363C>G (p.Leu121=)
c.330C>G (p.Leu110=)
 dbSNP gnomAD v3 gnomAD v4
2g.31529420G=CA1242197419SRD5A2c.585C= (p.Leu195=)
c.363C= (p.Leu121=)
c.330C= (p.Leu110=)
2g.31529420G>TCA425567474SRD5A2c.585C>A (p.Leu195=)
c.363C>A (p.Leu121=)
c.330C>A (p.Leu110=)
2g.31529421A>CCA346598071SRD5A2c.584T>G (p.Leu195Arg)
c.362T>G (p.Leu121Arg)
c.329T>G (p.Leu110Arg)
2g.31529421A>GCA346598069SRD5A2c.584T>C (p.Leu195Pro)
c.362T>C (p.Leu121Pro)
c.329T>C (p.Leu110Pro)
2g.31529421A>TCA346598070SRD5A2c.584T>A (p.Leu195His)
c.362T>A (p.Leu121His)
c.329T>A (p.Leu110His)
2g.31529422G>ACA346598072SRD5A2c.583C>T (p.Leu195Phe)
c.361C>T (p.Leu121Phe)
c.328C>T (p.Leu110Phe)
2g.31529422G>CCA346598073SRD5A2c.583C>G (p.Leu195Val)
c.361C>G (p.Leu121Val)
c.328C>G (p.Leu110Val)
2g.31529422G>TCA346598074SRD5A2c.583C>A (p.Leu195Ile)
c.361C>A (p.Leu121Ile)
c.328C>A (p.Leu110Ile)
2g.31529423G>ACA425567475SRD5A2c.582C>T (p.Phe194=)
c.360C>T (p.Phe120=)
c.327C>T (p.Phe109=)
 dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.31529423G>CCA224916SRD5A2c.582C>G (p.Phe194Leu)
c.360C>G (p.Phe120Leu)
c.327C>G (p.Phe109Leu)
 ClinVar dbSNP
2g.31529423G=CA1242197420SRD5A2c.582C= (p.Phe194=)
c.360C= (p.Phe120=)
c.327C= (p.Phe109=)
2g.31529423G>TCA346598075SRD5A2c.582C>A (p.Phe194Leu)
c.360C>A (p.Phe120Leu)
c.327C>A (p.Phe109Leu)
2g.31529424A>CCA346598076SRD5A2c.581T>G (p.Phe194Cys)
c.359T>G (p.Phe120Cys)
c.326T>G (p.Phe109Cys)
2g.31529424A>GCA346598077SRD5A2c.581T>C (p.Phe194Ser)
c.359T>C (p.Phe120Ser)
c.326T>C (p.Phe109Ser)
2g.31529424A>TCA346598078SRD5A2c.581T>A (p.Phe194Tyr)
c.359T>A (p.Phe120Tyr)
c.326T>A (p.Phe109Tyr)
2g.31529425A=CA1242197421SRD5A2c.580T= (p.Phe194=)
c.358T= (p.Phe120=)
c.325T= (p.Phe109=)
2g.31529425A>CCA346598079SRD5A2c.580T>G (p.Phe194Val)
c.358T>G (p.Phe120Val)
c.325T>G (p.Phe109Val)
2g.31529425A>GCA346598080SRD5A2c.580T>C (p.Phe194Leu)
c.358T>C (p.Phe120Leu)
c.325T>C (p.Phe109Leu)
2g.31529425A>TCA1599887SRD5A2c.580T>A (p.Phe194Ile)
c.358T>A (p.Phe120Ile)
c.325T>A (p.Phe109Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529426A>CCA346598082SRD5A2c.579T>G (p.Asn193Lys)
c.357T>G (p.Asn119Lys)
c.324T>G (p.Asn108Lys)
2g.31529426A>GCA425567476SRD5A2c.579T>C (p.Asn193=)
c.357T>C (p.Asn119=)
c.324T>C (p.Asn108=)
2g.31529426A>TCA346598081SRD5A2c.579T>A (p.Asn193Lys)
c.357T>A (p.Asn119Lys)
c.324T>A (p.Asn108Lys)
2g.31529427T>ACA346598083SRD5A2c.578A>T (p.Asn193Ile)
c.356A>T (p.Asn119Ile)
c.323A>T (p.Asn108Ile)
 gnomAD v4
2g.31529427T>CCA1599888SRD5A2c.578A>G (p.Asn193Ser)
c.356A>G (p.Asn119Ser)
c.323A>G (p.Asn108Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529427T>GCA346598084SRD5A2c.578A>C (p.Asn193Thr)
c.356A>C (p.Asn119Thr)
c.323A>C (p.Asn108Thr)
2g.31529427T=CA1242197422SRD5A2c.578A= (p.Asn193=)
c.356A= (p.Asn119=)
c.323A= (p.Asn108=)
2g.31529428T>ACA346598085SRD5A2c.577A>T (p.Asn193Tyr)
c.355A>T (p.Asn119Tyr)
c.322A>T (p.Asn108Tyr)
2g.31529428T>CCA346598086SRD5A2c.577A>G (p.Asn193Asp)
c.355A>G (p.Asn119Asp)
c.322A>G (p.Asn108Asp)
 COSMIC
2g.31529428T>GCA346598087SRD5A2c.577A>C (p.Asn193His)
c.355A>C (p.Asn119His)
c.322A>C (p.Asn108His)
2g.31529429G>ACA425567477SRD5A2c.576C>T (p.Ala192=)
c.354C>T (p.Ala118=)
c.321C>T (p.Ala107=)
2g.31529429G>CCA425567478SRD5A2c.576C>G (p.Ala192=)
c.354C>G (p.Ala118=)
c.321C>G (p.Ala107=)
2g.31529429G>TCA425567479SRD5A2c.576C>A (p.Ala192=)
c.354C>A (p.Ala118=)
c.321C>A (p.Ala107=)
2g.31529430G>ACA45136319SRD5A2c.575C>T (p.Ala192Val)
c.353C>T (p.Ala118Val)
c.320C>T (p.Ala107Val)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.31529430G>CCA346598088SRD5A2c.575C>G (p.Ala192Gly)
c.353C>G (p.Ala118Gly)
c.320C>G (p.Ala107Gly)
2g.31529430G=CA1242197423SRD5A2c.575C= (p.Ala192=)
c.353C= (p.Ala118=)
c.320C= (p.Ala107=)
2g.31529430G>TCA346598089SRD5A2c.575C>A (p.Ala192Asp)
c.353C>A (p.Ala118Asp)
c.320C>A (p.Ala107Asp)
2g.31529431C>ACA346598090SRD5A2c.574G>T (p.Ala192Ser)
c.352G>T (p.Ala118Ser)
c.319G>T (p.Ala107Ser)
2g.31529431C>GCA346598091SRD5A2c.574G>C (p.Ala192Pro)
c.352G>C (p.Ala118Pro)
c.319G>C (p.Ala107Pro)
2g.31529431C>TCA346598092SRD5A2c.574G>A (p.Ala192Thr)
c.352G>A (p.Ala118Thr)
c.319G>A (p.Ala107Thr)
 ClinVar gnomAD v4
2g.31529432T>ACA425567480SRD5A2c.573A>T (p.Gly191=)
c.351A>T (p.Gly117=)
c.318A>T (p.Gly106=)
2g.31529432T>CCA1599889SRD5A2c.573A>G (p.Gly191=)
c.351A>G (p.Gly117=)
c.318A>G (p.Gly106=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529432T>GCA425567481SRD5A2c.573A>C (p.Gly191=)
c.351A>C (p.Gly117=)
c.318A>C (p.Gly106=)
2g.31529432T=CA1242197424SRD5A2c.573A= (p.Gly191=)
c.351A= (p.Gly117=)
c.318A= (p.Gly106=)
2g.31529433C>ACA346598095SRD5A2c.572G>T (p.Gly191Val)
c.350G>T (p.Gly117Val)
c.317G>T (p.Gly106Val)
2g.31529433C>GCA346598094SRD5A2c.572G>C (p.Gly191Ala)
c.350G>C (p.Gly117Ala)
c.317G>C (p.Gly106Ala)
2g.31529433C>TCA346598093SRD5A2c.572G>A (p.Gly191Glu)
c.350G>A (p.Gly117Glu)
c.317G>A (p.Gly106Glu)
 COSMIC
2g.31529434C>ACA346598096SRD5A2c.571G>T (p.Gly191Ter)
c.349G>T (p.Gly117Ter)
c.316G>T (p.Gly106Ter)
2g.31529434C>GCA346598098SRD5A2c.571G>C (p.Gly191Arg)
c.349G>C (p.Gly117Arg)
c.316G>C (p.Gly106Arg)
2g.31529434C>TCA346598097SRD5A2c.571G>A (p.Gly191Arg)
c.349G>A (p.Gly117Arg)
c.316G>A (p.Gly106Arg)
 ClinVar COSMIC
2g.31529435A=CA1242197425SRD5A2c.570T= (p.Ser190=)
c.348T= (p.Ser116=)
c.315T= (p.Ser105=)
2g.31529435A>CCA425567482SRD5A2c.570T>G (p.Ser190=)
c.348T>G (p.Ser116=)
c.315T>G (p.Ser105=)
2g.31529435A>GCA425567483SRD5A2c.570T>C (p.Ser190=)
c.348T>C (p.Ser116=)
c.315T>C (p.Ser105=)
 dbSNP gnomAD v3 gnomAD v4
2g.31529435A>TCA425567484SRD5A2c.570T>A (p.Ser190=)
c.348T>A (p.Ser116=)
c.315T>A (p.Ser105=)
2g.31529436G>ACA346598099SRD5A2c.569C>T (p.Ser190Phe)
c.347C>T (p.Ser116Phe)
c.314C>T (p.Ser105Phe)
 gnomAD v4
2g.31529436G>CCA346598100SRD5A2c.569C>G (p.Ser190Cys)
c.347C>G (p.Ser116Cys)
c.314C>G (p.Ser105Cys)
2g.31529436G>TCA346598101SRD5A2c.569C>A (p.Ser190Tyr)
c.347C>A (p.Ser116Tyr)
c.314C>A (p.Ser105Tyr)
2g.31529437A>CCA346598102SRD5A2c.568T>G (p.Ser190Ala)
c.346T>G (p.Ser116Ala)
c.313T>G (p.Ser105Ala)
2g.31529437A>GCA346598103SRD5A2c.568T>C (p.Ser190Pro)
c.346T>C (p.Ser116Pro)
c.313T>C (p.Ser105Pro)
2g.31529437A>TCA346598104SRD5A2c.568T>A (p.Ser190Thr)
c.346T>A (p.Ser116Thr)
c.313T>A (p.Ser105Thr)
2g.31529437_31529452delinsGTCA2586969026SRD5A2c.553_568delinsAC (p.Leu185ThrfsTer8)
c.331_346delinsAC (p.Leu111ThrfsTer8)
c.298_313delinsAC (p.Leu100ThrfsTer8)
2g.31529438A>CCA425567485SRD5A2c.567T>G (p.Val189=)
c.345T>G (p.Val115=)
c.312T>G (p.Val104=)
2g.31529438A>GCA425567486SRD5A2c.567T>C (p.Val189=)
c.345T>C (p.Val115=)
c.312T>C (p.Val104=)
2g.31529438A>TCA425567487SRD5A2c.567T>A (p.Val189=)
c.345T>A (p.Val115=)
c.312T>A (p.Val104=)
2g.31529439A=CA1242197426SRD5A2c.566T= (p.Val189=)
c.344T= (p.Val115=)
c.311T= (p.Val104=)
2g.31529439A>CCA346598105SRD5A2c.566T>G (p.Val189Gly)
c.344T>G (p.Val115Gly)
c.311T>G (p.Val104Gly)
2g.31529439A>GCA346598106SRD5A2c.566T>C (p.Val189Ala)
c.344T>C (p.Val115Ala)
c.311T>C (p.Val104Ala)
 dbSNP gnomAD v4
2g.31529439A>TCA346598107SRD5A2c.566T>A (p.Val189Asp)
c.344T>A (p.Val115Asp)
c.311T>A (p.Val104Asp)
2g.31529440C>ACA346598108SRD5A2c.565G>T (p.Val189Phe)
c.343G>T (p.Val115Phe)
c.310G>T (p.Val104Phe)
2g.31529440C=CA1242197427SRD5A2c.565G= (p.Val189=)
c.343G= (p.Val115=)
c.310G= (p.Val104=)
2g.31529440C>GCA346598109SRD5A2c.565G>C (p.Val189Leu)
c.343G>C (p.Val115Leu)
c.310G>C (p.Val104Leu)
2g.31529440C>TCA1599890SRD5A2c.565G>A (p.Val189Ile)
c.343G>A (p.Val115Ile)
c.310G>A (p.Val104Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529441delCA2697547973SRD5A2c.564del (p.Tyr188Ter)
c.342del (p.Tyr114Ter)
c.309del (p.Tyr103Ter)
 ClinVar
2g.31529441A>CCA346598111SRD5A2c.564T>G (p.Tyr188Ter)
c.342T>G (p.Tyr114Ter)
c.309T>G (p.Tyr103Ter)
2g.31529441A>GCA425567488SRD5A2c.564T>C (p.Tyr188=)
c.342T>C (p.Tyr114=)
c.309T>C (p.Tyr103=)
2g.31529441A>TCA346598110SRD5A2c.564T>A (p.Tyr188Ter)
c.342T>A (p.Tyr114Ter)
c.309T>A (p.Tyr103Ter)
2g.31529442_31529443delCA2586969027SRD5A2c.563_564del (p.Tyr188CysfsTer9)
c.341_342del (p.Tyr114CysfsTer9)
c.308_309del (p.Tyr103CysfsTer9)
 gnomAD v4
2g.31529442T>ACA346598112SRD5A2c.563A>T (p.Tyr188Phe)
c.341A>T (p.Tyr114Phe)
c.308A>T (p.Tyr103Phe)
2g.31529442T>CCA346598113SRD5A2c.563A>G (p.Tyr188Cys)
c.341A>G (p.Tyr114Cys)
c.308A>G (p.Tyr103Cys)
2g.31529442T>GCA346598114SRD5A2c.563A>C (p.Tyr188Ser)
c.341A>C (p.Tyr114Ser)
c.308A>C (p.Tyr103Ser)
2g.31529443A>CCA346598115SRD5A2c.562T>G (p.Tyr188Asp)
c.340T>G (p.Tyr114Asp)
c.307T>G (p.Tyr103Asp)
2g.31529443A>GCA346598116SRD5A2c.562T>C (p.Tyr188His)
c.340T>C (p.Tyr114His)
c.307T>C (p.Tyr103His)
 gnomAD v4
2g.31529443A>TCA346598117SRD5A2c.562T>A (p.Tyr188Asn)
c.340T>A (p.Tyr114Asn)
c.307T>A (p.Tyr103Asn)
2g.31529443_31529444delinsACCA1242197428SRD5A2c.561_562delinsGT (p.Thr187=)
c.339_340delinsGT (p.Thr113=)
c.306_307delinsGT (p.Thr102=)
2g.31529444delCA1028962798SRD5A2c.561del (p.Tyr188MetfsTer?)
c.339del (p.Tyr114MetfsTer?)
c.306del (p.Tyr103MetfsTer?)
 dbSNP gnomAD v3 gnomAD v4
2g.31529444C>ACA425567489SRD5A2c.561G>T (p.Thr187=)
c.339G>T (p.Thr113=)
c.306G>T (p.Thr102=)
 gnomAD v4
2g.31529444C=CA1242197429SRD5A2c.561G= (p.Thr187=)
c.339G= (p.Thr113=)
c.306G= (p.Thr102=)
2g.31529444C>GCA45136320SRD5A2c.561G>C (p.Thr187=)
c.339G>C (p.Thr113=)
c.306G>C (p.Thr102=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31529444C>TCA1599891SRD5A2c.561G>A (p.Thr187=)
c.339G>A (p.Thr113=)
c.306G>A (p.Thr102=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529445G>ACA224914SRD5A2c.560C>T (p.Thr187Met)
c.338C>T (p.Thr113Met)
c.305C>T (p.Thr102Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.31529445G>CCA346598118SRD5A2c.560C>G (p.Thr187Arg)
c.338C>G (p.Thr113Arg)
c.305C>G (p.Thr102Arg)
2g.31529445G=CA1242197430SRD5A2c.560C= (p.Thr187=)
c.338C= (p.Thr113=)
c.305C= (p.Thr102=)
2g.31529445G>TCA346598119SRD5A2c.560C>A (p.Thr187Lys)
c.338C>A (p.Thr113Lys)
c.305C>A (p.Thr102Lys)
2g.31529446T>ACA346598120SRD5A2c.559A>T (p.Thr187Ser)
c.337A>T (p.Thr113Ser)
c.304A>T (p.Thr102Ser)
2g.31529446T>CCA346598121SRD5A2c.559A>G (p.Thr187Ala)
c.337A>G (p.Thr113Ala)
c.304A>G (p.Thr102Ala)
2g.31529446T>GCA346598122SRD5A2c.559A>C (p.Thr187Pro)
c.337A>C (p.Thr113Pro)
c.304A>C (p.Thr102Pro)
2g.31529447A>CCA346598123SRD5A2c.558T>G (p.Phe186Leu)
c.336T>G (p.Phe112Leu)
c.303T>G (p.Phe101Leu)
2g.31529447A>GCA425567490SRD5A2c.558T>C (p.Phe186=)
c.336T>C (p.Phe112=)
c.303T>C (p.Phe101=)
2g.31529447A>TCA346598124SRD5A2c.558T>A (p.Phe186Leu)
c.336T>A (p.Phe112Leu)
c.303T>A (p.Phe101Leu)
 COSMIC
2g.31529448A>CCA346598125SRD5A2c.557T>G (p.Phe186Cys)
c.335T>G (p.Phe112Cys)
c.302T>G (p.Phe101Cys)
2g.31529448A>GCA346598126SRD5A2c.557T>C (p.Phe186Ser)
c.335T>C (p.Phe112Ser)
c.302T>C (p.Phe101Ser)
 COSMIC
2g.31529448A>TCA346598127SRD5A2c.557T>A (p.Phe186Tyr)
c.335T>A (p.Phe112Tyr)
c.302T>A (p.Phe101Tyr)
2g.31529449A>CCA346598128SRD5A2c.556T>G (p.Phe186Val)
c.334T>G (p.Phe112Val)
c.301T>G (p.Phe101Val)
2g.31529449A>GCA346598129SRD5A2c.556T>C (p.Phe186Leu)
c.334T>C (p.Phe112Leu)
c.301T>C (p.Phe101Leu)
2g.31529449A>TCA346598130SRD5A2c.556T>A (p.Phe186Ile)
c.334T>A (p.Phe112Ile)
c.301T>A (p.Phe101Ile)
2g.31529450C>ACA346598131SRD5A2c.555G>T (p.Leu185Phe)
c.333G>T (p.Leu111Phe)
c.300G>T (p.Leu100Phe)
2g.31529450C>GCA346598132SRD5A2c.555G>C (p.Leu185Phe)
c.333G>C (p.Leu111Phe)
c.300G>C (p.Leu100Phe)
2g.31529450C>TCA425567491SRD5A2c.555G>A (p.Leu185=)
c.333G>A (p.Leu111=)
c.300G>A (p.Leu100=)
2g.31529451A=CA1242197431SRD5A2c.554T= (p.Leu185=)
c.332T= (p.Leu111=)
c.299T= (p.Leu100=)
2g.31529451A>CCA346598133SRD5A2c.554T>G (p.Leu185Trp)
c.332T>G (p.Leu111Trp)
c.299T>G (p.Leu100Trp)
2g.31529451A>GCA1599892SRD5A2c.554T>C (p.Leu185Ser)
c.332T>C (p.Leu111Ser)
c.299T>C (p.Leu100Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529451A>TCA346598134SRD5A2c.554T>A (p.Leu185Ter)
c.332T>A (p.Leu111Ter)
c.299T>A (p.Leu100Ter)
2g.31529452A>CCA346598135SRD5A2c.553T>G (p.Leu185Val)
c.331T>G (p.Leu111Val)
c.298T>G (p.Leu100Val)
2g.31529452A>GCA425567492SRD5A2c.553T>C (p.Leu185=)
c.331T>C (p.Leu111=)
c.298T>C (p.Leu100=)
2g.31529452A>TCA346598136SRD5A2c.553T>A (p.Leu185Met)
c.331T>A (p.Leu111Met)
c.298T>A (p.Leu100Met)
2g.31529453G>ACA425567493SRD5A2c.552C>T (p.Gly184=)
c.330C>T (p.Gly110=)
c.297C>T (p.Gly99=)
 gnomAD v4
2g.31529453G>CCA425567494SRD5A2c.552C>G (p.Gly184=)
c.330C>G (p.Gly110=)
c.297C>G (p.Gly99=)
 gnomAD v4
2g.31529453G>TCA425567495SRD5A2c.552C>A (p.Gly184=)
c.330C>A (p.Gly110=)
c.297C>A (p.Gly99=)
 dbSNP
2g.31529454C>ACA346598139SRD5A2c.551G>T (p.Gly184Val)
c.329G>T (p.Gly110Val)
c.296G>T (p.Gly99Val)
 dbSNP
2g.31529454C>GCA346598137SRD5A2c.551G>C (p.Gly184Ala)
c.329G>C (p.Gly110Ala)
c.296G>C (p.Gly99Ala)
2g.31529454C>TCA346598138SRD5A2c.551G>A (p.Gly184Asp)
c.329G>A (p.Gly110Asp)
c.296G>A (p.Gly99Asp)
 gnomAD v4
2g.31529455C>ACA346598140SRD5A2c.550G>T (p.Gly184Cys)
c.328G>T (p.Gly110Cys)
c.295G>T (p.Gly99Cys)
2g.31529455C=CA1242197432SRD5A2c.550G= (p.Gly184=)
c.328G= (p.Gly110=)
c.295G= (p.Gly99=)
2g.31529455C>GCA224912SRD5A2c.550G>C (p.Gly184Arg)
c.328G>C (p.Gly110Arg)
c.295G>C (p.Gly99Arg)
 ClinVar dbSNP
2g.31529455C>TCA346598141SRD5A2c.550G>A (p.Gly184Ser)
c.328G>A (p.Gly110Ser)
c.295G>A (p.Gly99Ser)
2g.31529456A>CCA425567496SRD5A2c.549T>G (p.Gly183=)
c.327T>G (p.Gly109=)
c.294T>G (p.Gly98=)
2g.31529456A>GCA425567497SRD5A2c.549T>C (p.Gly183=)
c.327T>C (p.Gly109=)
c.294T>C (p.Gly98=)
2g.31529456A>TCA425567498SRD5A2c.549T>A (p.Gly183=)
c.327T>A (p.Gly109=)
c.294T>A (p.Gly98=)
2g.31529457C>ACA346598142SRD5A2c.548G>T (p.Gly183Val)
c.326G>T (p.Gly109Val)
c.293G>T (p.Gly98Val)
 gnomAD v4 COSMIC COSMIC
2g.31529457C>GCA346598143SRD5A2c.548G>C (p.Gly183Ala)
c.326G>C (p.Gly109Ala)
c.293G>C (p.Gly98Ala)
2g.31529457C>TCA346598144SRD5A2c.548G>A (p.Gly183Asp)
c.326G>A (p.Gly109Asp)
c.293G>A (p.Gly98Asp)
2g.31529458C>ACA346598145SRD5A2c.548-1G>T (n.548-1G>T)
c.326-1G>T (n.326-1G>T)
c.293-1G>T (n.293-1G>T)
2g.31529458C>GCA346598146SRD5A2c.548-1G>C (n.548-1G>C)
c.326-1G>C (n.326-1G>C)
c.293-1G>C (n.293-1G>C)
2g.31529458C>TCA346598147SRD5A2c.548-1G>A (n.548-1G>A)
c.326-1G>A (n.326-1G>A)
c.293-1G>A (n.293-1G>A)
2g.31529459T>ACA346598148SRD5A2c.548-2A>T (n.548-2A>T)
c.326-2A>T (n.326-2A>T)
c.293-2A>T (n.293-2A>T)
2g.31529459T>CCA346598149SRD5A2c.548-2A>G (n.548-2A>G)
c.326-2A>G (n.326-2A>G)
c.293-2A>G (n.293-2A>G)
 gnomAD v4
2g.31529459T>GCA224911SRD5A2c.548-2A>C (n.548-2A>C)
c.326-2A>C (n.326-2A>C)
c.293-2A>C (n.293-2A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529459T=CA1242197433SRD5A2c.548-2A= (n.548-2A=)
c.326-2A= (n.326-2A=)
c.293-2A= (n.293-2A=)
2g.31529460G=CA1242197434SRD5A2c.548-3C= (n.548-3C=)
c.326-3C= (n.326-3C=)
c.293-3C= (n.293-3C=)
2g.31529460G>TCA45136321SRD5A2c.548-3C>A (n.548-3C>A)
c.326-3C>A (n.326-3C>A)
c.293-3C>A (n.293-3C>A)
 dbSNP
2g.31529461C>ACA2658498248SRD5A2c.548-4G>T (n.548-4G>T)
c.326-4G>T (n.326-4G>T)
c.293-4G>T (n.293-4G>T)
 gnomAD v4
2g.31529461C=CA1242197435SRD5A2c.548-4G= (n.548-4G=)
c.326-4G= (n.326-4G=)
c.293-4G= (n.293-4G=)
2g.31529461C>TCA1599893SRD5A2c.548-4G>A (n.548-4G>A)
c.326-4G>A (n.326-4G>A)
c.293-4G>A (n.293-4G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529462G>ACA1599894SRD5A2c.548-5C>T (n.548-5C>T)
c.326-5C>T (n.326-5C>T)
c.293-5C>T (n.293-5C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529462G>CCA658683179SRD5A2c.548-5C>G (n.548-5C>G)
c.326-5C>G (n.326-5C>G)
c.293-5C>G (n.293-5C>G)
 ClinVar dbSNP
2g.31529462G=CA1242197436SRD5A2c.548-5C= (n.548-5C=)
c.326-5C= (n.326-5C=)
c.293-5C= (n.293-5C=)
2g.31529462G>TCA2658498254SRD5A2c.548-5C>A (n.548-5C>A)
c.326-5C>A (n.326-5C>A)
c.293-5C>A (n.293-5C>A)
 gnomAD v4
2g.31529462dupCA2658498253SRD5A2c.548-5dup (n.548-5dup)
c.326-5dup (n.326-5dup)
c.293-5dup (n.293-5dup)
 gnomAD v4
2g.31529463T>ACA1599895SRD5A2c.548-6A>T (n.548-6A>T)
c.326-6A>T (n.326-6A>T)
c.293-6A>T (n.293-6A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529463T>CCA45136322SRD5A2c.548-6A>G (n.548-6A>G)
c.326-6A>G (n.326-6A>G)
c.293-6A>G (n.293-6A>G)
 dbSNP gnomAD v4
2g.31529463T>GCA531711828SRD5A2c.548-6A>C (n.548-6A>C)
c.326-6A>C (n.326-6A>C)
c.293-6A>C (n.293-6A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.31529463T=CA1242197437SRD5A2c.548-6A= (n.548-6A=)
c.326-6A= (n.326-6A=)
c.293-6A= (n.293-6A=)
2g.31529465C>ACA1599897SRD5A2c.548-8G>T (n.548-8G>T)
c.326-8G>T (n.326-8G>T)
c.293-8G>T (n.293-8G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529465C=CA1242197438SRD5A2c.548-8G= (n.548-8G=)
c.326-8G= (n.326-8G=)
c.293-8G= (n.293-8G=)
2g.31529465C>GCA1599896SRD5A2c.548-8G>C (n.548-8G>C)
c.326-8G>C (n.326-8G>C)
c.293-8G>C (n.293-8G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529466A=CA1242197439SRD5A2c.548-9T= (n.548-9T=)
c.326-9T= (n.326-9T=)
c.293-9T= (n.293-9T=)
2g.31529466A>CCA346598150SRD5A2c.548-9T>G (n.548-9T>G)
c.326-9T>G (n.326-9T>G)
c.293-9T>G (n.293-9T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.31529466A>GCA767759145SRD5A2c.548-9T>C (n.548-9T>C)
c.326-9T>C (n.326-9T>C)
c.293-9T>C (n.293-9T>C)
 dbSNP gnomAD v4
2g.31529469A>GCA2576929437SRD5A2c.548-12T>C (n.548-12T>C)
c.326-12T>C (n.326-12T>C)
c.293-12T>C (n.293-12T>C)
2g.31529470_31529471insGGTGGGGAGGGGCAAATCCCATAAGAGCA2749375023SRD5A2c.548-12_548-11insCTTATGGGATTTGCCCCTCCCCACCCT (n.548-12_548-11insCTTATGGGATTTGCCCCTCCCCACCCT)
c.326-12_326-11insCTTATGGGATTTGCCCCTCCCCACCCT (n.326-12_326-11insCTTATGGGATTTGCCCCTCCCCACCCT)
c.293-12_293-11insCTTATGGGATTTGCCCCTCCCCACCCT (n.293-12_293-11insCTTATGGGATTTGCCCCTCCCCACCCT)
2g.31529470G>ACA1599898SRD5A2c.548-13C>T (n.548-13C>T)
c.326-13C>T (n.326-13C>T)
c.293-13C>T (n.293-13C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529470G=CA1242197440SRD5A2c.548-13C= (n.548-13C=)
c.326-13C= (n.326-13C=)
c.293-13C= (n.293-13C=)
2g.31529473T>ACA1028962832SRD5A2c.548-16A>T (n.548-16A>T)
c.326-16A>T (n.326-16A>T)
c.293-16A>T (n.293-16A>T)
 dbSNP gnomAD v3 gnomAD v4
2g.31529473T=CA1242197441SRD5A2c.548-16A= (n.548-16A=)
c.326-16A= (n.326-16A=)
c.293-16A= (n.293-16A=)
2g.31529474C>ACA1599899SRD5A2c.548-17G>T (n.548-17G>T)
c.326-17G>T (n.326-17G>T)
c.293-17G>T (n.293-17G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529474C=CA1242197442SRD5A2c.548-17G= (n.548-17G=)
c.326-17G= (n.326-17G=)
c.293-17G= (n.293-17G=)
2g.31529474C>TCA1599900SRD5A2c.548-17G>A (n.548-17G>A)
c.326-17G>A (n.326-17G>A)
c.293-17G>A (n.293-17G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529475G>ACA1599901SRD5A2c.548-18C>T (n.548-18C>T)
c.326-18C>T (n.326-18C>T)
c.293-18C>T (n.293-18C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529475G>CCA2658498272SRD5A2c.548-18C>G (n.548-18C>G)
c.326-18C>G (n.326-18C>G)
c.293-18C>G (n.293-18C>G)
 gnomAD v4
2g.31529475G=CA1242197443SRD5A2c.548-18C= (n.548-18C=)
c.326-18C= (n.326-18C=)
c.293-18C= (n.293-18C=)
2g.31529475G>TCA531711840SRD5A2c.548-18C>A (n.548-18C>A)
c.326-18C>A (n.326-18C>A)
c.293-18C>A (n.293-18C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.31529475_31529476delCA2749375024SRD5A2c.548-19_548-18del (n.548-19_548-18del)
c.326-19_326-18del (n.326-19_326-18del)
c.293-19_293-18del (n.293-19_293-18del)
2g.31529476G>ACA2658498274SRD5A2c.548-19C>T (n.548-19C>T)
c.326-19C>T (n.326-19C>T)
c.293-19C>T (n.293-19C>T)
 gnomAD v4
2g.31529479G>ACA2658498275SRD5A2c.548-22C>T (n.548-22C>T)
c.326-22C>T (n.326-22C>T)
c.293-22C>T (n.293-22C>T)
 dbSNP gnomAD v4
2g.31529480G>ACA531711841SRD5A2c.548-23C>T (n.548-23C>T)
c.326-23C>T (n.326-23C>T)
c.293-23C>T (n.293-23C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.31529480G>CCA2749375025SRD5A2c.548-23C>G (n.548-23C>G)
c.326-23C>G (n.326-23C>G)
c.293-23C>G (n.293-23C>G)
2g.31529480G=CA1242197444SRD5A2c.548-23C= (n.548-23C=)
c.326-23C= (n.326-23C=)
c.293-23C= (n.293-23C=)
2g.31529482C>GCA2698935149SRD5A2c.548-25G>C (n.548-25G>C)
c.326-25G>C (n.326-25G>C)
c.293-25G>C (n.293-25G>C)
 dbSNP
2g.31529482C>TCA2658498276SRD5A2c.548-25G>A (n.548-25G>A)
c.326-25G>A (n.326-25G>A)
c.293-25G>A (n.293-25G>A)
 gnomAD v4
2g.31529484A=CA1242197445SRD5A2c.548-27T= (n.548-27T=)
c.326-27T= (n.326-27T=)
c.293-27T= (n.293-27T=)
2g.31529484A>GCA2658498278SRD5A2c.548-27T>C (n.548-27T>C)
c.326-27T>C (n.326-27T>C)
c.293-27T>C (n.293-27T>C)
 dbSNP gnomAD v4
2g.31529484A>TCA45136323SRD5A2c.548-27T>A (n.548-27T>A)
c.326-27T>A (n.326-27T>A)
c.293-27T>A (n.293-27T>A)
 dbSNP
2g.31529486C>ACA2658498280SRD5A2c.548-29G>T (n.548-29G>T)
c.326-29G>T (n.326-29G>T)
c.293-29G>T (n.293-29G>T)
 gnomAD v4
2g.31529486C=CA1242197446SRD5A2c.548-29G= (n.548-29G=)
c.326-29G= (n.326-29G=)
c.293-29G= (n.293-29G=)
2g.31529486C>TCA1599902SRD5A2c.548-29G>A (n.548-29G>A)
c.326-29G>A (n.326-29G>A)
c.293-29G>A (n.293-29G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529488T>CCA2658498283SRD5A2c.548-31A>G (n.548-31A>G)
c.326-31A>G (n.326-31A>G)
c.293-31A>G (n.293-31A>G)
 gnomAD v4
2g.31529488T>GCA1599903SRD5A2c.548-31A>C (n.548-31A>C)
c.326-31A>C (n.326-31A>C)
c.293-31A>C (n.293-31A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529488T=CA1242197447SRD5A2c.548-31A= (n.548-31A=)
c.326-31A= (n.326-31A=)
c.293-31A= (n.293-31A=)
2g.31529489T>ACA1599904SRD5A2c.548-32A>T (n.548-32A>T)
c.326-32A>T (n.326-32A>T)
c.293-32A>T (n.293-32A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529489T=CA1242197448SRD5A2c.548-32A= (n.548-32A=)
c.326-32A= (n.326-32A=)
c.293-32A= (n.293-32A=)
2g.31529490G>CCA1242197450SRD5A2c.548-33C>G (n.548-33C>G)
c.326-33C>G (n.326-33C>G)
c.293-33C>G (n.293-33C>G)
 dbSNP
2g.31529490G=CA1242197449SRD5A2c.548-33C= (n.548-33C=)
c.326-33C= (n.326-33C=)
c.293-33C= (n.293-33C=)
2g.31529490G>TCA2658498290SRD5A2c.548-33C>A (n.548-33C>A)
c.326-33C>A (n.326-33C>A)
c.293-33C>A (n.293-33C>A)
 gnomAD v4
2g.31529491C=CA1242197451SRD5A2c.548-34G= (n.548-34G=)
c.326-34G= (n.326-34G=)
c.293-34G= (n.293-34G=)
2g.31529491C>TCA1242197452SRD5A2c.548-34G>A (n.548-34G>A)
c.326-34G>A (n.326-34G>A)
c.293-34G>A (n.293-34G>A)
 dbSNP
2g.31529494C>TCA2658498292SRD5A2c.548-37G>A (n.548-37G>A)
c.326-37G>A (n.326-37G>A)
c.293-37G>A (n.293-37G>A)
 gnomAD v4
2g.31529495T>CCA45136324SRD5A2c.548-38A>G (n.548-38A>G)
c.326-38A>G (n.326-38A>G)
c.293-38A>G (n.293-38A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31529495T>GCA2658498294SRD5A2c.548-38A>C (n.548-38A>C)
c.326-38A>C (n.326-38A>C)
c.293-38A>C (n.293-38A>C)
 gnomAD v4
2g.31529495T=CA1242197453SRD5A2c.548-38A= (n.548-38A=)
c.326-38A= (n.326-38A=)
c.293-38A= (n.293-38A=)
2g.31529496G=CA1242197454SRD5A2c.548-39C= (n.548-39C=)
c.326-39C= (n.326-39C=)
c.293-39C= (n.293-39C=)
2g.31529496G>TCA531711848SRD5A2c.548-39C>A (n.548-39C>A)
c.326-39C>A (n.326-39C>A)
c.293-39C>A (n.293-39C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.31529498A=CA1242197455SRD5A2c.548-41T= (n.548-41T=)
c.326-41T= (n.326-41T=)
c.293-41T= (n.293-41T=)
2g.31529498A>CCA1599905SRD5A2c.548-41T>G (n.548-41T>G)
c.326-41T>G (n.326-41T>G)
c.293-41T>G (n.293-41T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529500C>ACA1599906SRD5A2c.548-43G>T (n.548-43G>T)
c.326-43G>T (n.326-43G>T)
c.293-43G>T (n.293-43G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529500C=CA1242197456SRD5A2c.548-43G= (n.548-43G=)
c.326-43G= (n.326-43G=)
c.293-43G= (n.293-43G=)
2g.31529501_31529502delinsATCA1242197457SRD5A2c.548-45_548-44delinsAT (n.548-45_548-44delinsAT)
c.326-45_326-44delinsAT (n.326-45_326-44delinsAT)
c.293-45_293-44delinsAT (n.293-45_293-44delinsAT)
2g.31529502T>CCA2658498299SRD5A2c.548-45A>G (n.548-45A>G)
c.326-45A>G (n.326-45A>G)
c.293-45A>G (n.293-45A>G)
 gnomAD v4
2g.31529505delCA1028962852SRD5A2c.548-45del (n.548-45del)
c.326-45del (n.326-45del)
c.293-45del (n.293-45del)
 dbSNP gnomAD v3 gnomAD v4
2g.31529506G>ACA2658498301SRD5A2c.548-49C>T (n.548-49C>T)
c.326-49C>T (n.326-49C>T)
c.293-49C>T (n.293-49C>T)
 gnomAD v4
2g.31529507A=CA1242197458SRD5A2c.548-50T= (n.548-50T=)
c.326-50T= (n.326-50T=)
c.293-50T= (n.293-50T=)
2g.31529507A>GCA1599907SRD5A2c.548-50T>C (n.548-50T>C)
c.326-50T>C (n.326-50T>C)
c.293-50T>C (n.293-50T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched