Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.31531375_31531376delinsTGCA1242198303SRD5A2c.542_543delinsCA (p.Pro181=)
c.320_321delinsCA (p.Pro107=)
c.287_288delinsCA (p.Pro96=)
2g.31531376G>ACA16042440SRD5A2c.542C>T (p.Pro181Leu)
c.320C>T (p.Pro107Leu)
c.287C>T (p.Pro96Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531376G>CCA346598167SRD5A2c.542C>G (p.Pro181Arg)
c.320C>G (p.Pro107Arg)
c.287C>G (p.Pro96Arg)
2g.31531376G=CA1242198304SRD5A2c.542C= (p.Pro181=)
c.320C= (p.Pro107=)
c.287C= (p.Pro96=)
2g.31531376G>TCA346598168SRD5A2c.542C>A (p.Pro181Gln)
c.320C>A (p.Pro107Gln)
c.287C>A (p.Pro96Gln)
 gnomAD v4
2g.31531377delCA531712329SRD5A2c.542del (p.Pro181HisfsTer?)
c.320del (p.Pro107HisfsTer?)
c.287del (p.Pro96HisfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531377G>ACA346598169SRD5A2c.541C>T (p.Pro181Ser)
c.319C>T (p.Pro107Ser)
c.286C>T (p.Pro96Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.31531377G>CCA346598171SRD5A2c.541C>G (p.Pro181Ala)
c.319C>G (p.Pro107Ala)
c.286C>G (p.Pro96Ala)
2g.31531377G=CA1242198305SRD5A2c.541C= (p.Pro181=)
c.319C= (p.Pro107=)
c.286C= (p.Pro96=)
2g.31531377G>TCA346598170SRD5A2c.541C>A (p.Pro181Thr)
c.319C>A (p.Pro107Thr)
c.286C>A (p.Pro96Thr)
 gnomAD v4
2g.31531378A>CCA346598172SRD5A2c.540T>G (p.Ile180Met)
c.318T>G (p.Ile106Met)
c.285T>G (p.Ile95Met)
2g.31531378A>GCA425567506SRD5A2c.540T>C (p.Ile180=)
c.318T>C (p.Ile106=)
c.285T>C (p.Ile95=)
 gnomAD v4
2g.31531378A>TCA425567507SRD5A2c.540T>A (p.Ile180=)
c.318T>A (p.Ile106=)
c.285T>A (p.Ile95=)
 gnomAD v4
2g.31531379A>CCA346598173SRD5A2c.539T>G (p.Ile180Ser)
c.317T>G (p.Ile106Ser)
c.284T>G (p.Ile95Ser)
2g.31531379A>GCA346598174SRD5A2c.539T>C (p.Ile180Thr)
c.317T>C (p.Ile106Thr)
c.284T>C (p.Ile95Thr)
 gnomAD v4
2g.31531379A>TCA346598175SRD5A2c.539T>A (p.Ile180Asn)
c.317T>A (p.Ile106Asn)
c.284T>A (p.Ile95Asn)
2g.31531380T>ACA346598177SRD5A2c.538A>T (p.Ile180Phe)
c.316A>T (p.Ile106Phe)
c.283A>T (p.Ile95Phe)
2g.31531380T>CCA1599914SRD5A2c.538A>G (p.Ile180Val)
c.316A>G (p.Ile106Val)
c.283A>G (p.Ile95Val)
 dbSNP ExAC gnomAD v2
2g.31531380T>GCA346598176SRD5A2c.538A>C (p.Ile180Leu)
c.316A>C (p.Ile106Leu)
c.283A>C (p.Ile95Leu)
2g.31531380T=CA1242198306SRD5A2c.538A= (p.Ile180=)
c.316A= (p.Ile106=)
c.283A= (p.Ile95=)
2g.31531381C>ACA1599915SRD5A2c.537G>T (p.Arg179Ser)
c.315G>T (p.Arg105Ser)
c.282G>T (p.Arg94Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31531381C=CA1242198307SRD5A2c.537G= (p.Arg179=)
c.315G= (p.Arg105=)
c.282G= (p.Arg94=)
2g.31531381C>GCA346598178SRD5A2c.537G>C (p.Arg179Ser)
c.315G>C (p.Arg105Ser)
c.282G>C (p.Arg94Ser)
2g.31531381C>TCA425567508SRD5A2c.537G>A (p.Arg179=)
c.315G>A (p.Arg105=)
c.282G>A (p.Arg94=)
 ClinVar dbSNP gnomAD v4
2g.31531382C>ACA45136526SRD5A2c.536G>T (p.Arg179Met)
c.314G>T (p.Arg105Met)
c.281G>T (p.Arg94Met)
 dbSNP gnomAD v4
2g.31531382C=CA1242198308SRD5A2c.536G= (p.Arg179=)
c.314G= (p.Arg105=)
c.281G= (p.Arg94=)
2g.31531382C>GCA346598179SRD5A2c.536G>C (p.Arg179Thr)
c.314G>C (p.Arg105Thr)
c.281G>C (p.Arg94Thr)
2g.31531382C>TCA346598180SRD5A2c.536G>A (p.Arg179Lys)
c.314G>A (p.Arg105Lys)
c.281G>A (p.Arg94Lys)
2g.31531383T>ACA346598181SRD5A2c.535A>T (p.Arg179Trp)
c.313A>T (p.Arg105Trp)
c.280A>T (p.Arg94Trp)
2g.31531383T>CCA346598182SRD5A2c.535A>G (p.Arg179Gly)
c.313A>G (p.Arg105Gly)
c.280A>G (p.Arg94Gly)
 gnomAD v4
2g.31531383T>GCA425567509SRD5A2c.535A>C (p.Arg179=)
c.313A>C (p.Arg105=)
c.280A>C (p.Arg94=)
 ClinVar dbSNP gnomAD v4
2g.31531383T=CA1242198309SRD5A2c.535A= (p.Arg179=)
c.313A= (p.Arg105=)
c.280A= (p.Arg94=)
2g.31531384delCA2586969028SRD5A2c.534del (p.Tyr178Ter)
c.312del (p.Tyr104Ter)
c.279del (p.Tyr93Ter)
2g.31531384G>ACA425567510SRD5A2c.534C>T (p.Tyr178=)
c.312C>T (p.Tyr104=)
c.279C>T (p.Tyr93=)
 dbSNP gnomAD v2 gnomAD v4
2g.31531384G>CCA346598183SRD5A2c.534C>G (p.Tyr178Ter)
c.312C>G (p.Tyr104Ter)
c.279C>G (p.Tyr93Ter)
2g.31531384G=CA1242198310SRD5A2c.534C= (p.Tyr178=)
c.312C= (p.Tyr104=)
c.279C= (p.Tyr93=)
2g.31531384G>TCA346598184SRD5A2c.534C>A (p.Tyr178Ter)
c.312C>A (p.Tyr104Ter)
c.279C>A (p.Tyr93Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531385T>ACA346598187SRD5A2c.533A>T (p.Tyr178Phe)
c.311A>T (p.Tyr104Phe)
c.278A>T (p.Tyr93Phe)
2g.31531385T>CCA346598185SRD5A2c.533A>G (p.Tyr178Cys)
c.311A>G (p.Tyr104Cys)
c.278A>G (p.Tyr93Cys)
 gnomAD v4
2g.31531385T>GCA346598186SRD5A2c.533A>C (p.Tyr178Ser)
c.311A>C (p.Tyr104Ser)
c.278A>C (p.Tyr93Ser)
2g.31531386A>CCA346598188SRD5A2c.532T>G (p.Tyr178Asp)
c.310T>G (p.Tyr104Asp)
c.277T>G (p.Tyr93Asp)
2g.31531386A>GCA346598189SRD5A2c.532T>C (p.Tyr178His)
c.310T>C (p.Tyr104His)
c.277T>C (p.Tyr93His)
2g.31531386A>TCA346598190SRD5A2c.532T>A (p.Tyr178Asn)
c.310T>A (p.Tyr104Asn)
c.277T>A (p.Tyr93Asn)
 gnomAD v4
2g.31531387G>ACA425567511SRD5A2c.531C>T (p.Ser177=)
c.309C>T (p.Ser103=)
c.276C>T (p.Ser92=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531387G>CCA346598191SRD5A2c.531C>G (p.Ser177Arg)
c.309C>G (p.Ser103Arg)
c.276C>G (p.Ser92Arg)
2g.31531387G=CA1242198311SRD5A2c.531C= (p.Ser177=)
c.309C= (p.Ser103=)
c.276C= (p.Ser92=)
2g.31531387G>TCA346598192SRD5A2c.531C>A (p.Ser177Arg)
c.309C>A (p.Ser103Arg)
c.276C>A (p.Ser92Arg)
 gnomAD v4
2g.31531388C>ACA346598193SRD5A2c.530G>T (p.Ser177Ile)
c.308G>T (p.Ser103Ile)
c.275G>T (p.Ser92Ile)
 gnomAD v4
2g.31531388C=CA1242198312SRD5A2c.530G= (p.Ser177=)
c.308G= (p.Ser103=)
c.275G= (p.Ser92=)
2g.31531388C>GCA346598195SRD5A2c.530G>C (p.Ser177Thr)
c.308G>C (p.Ser103Thr)
c.275G>C (p.Ser92Thr)
2g.31531388C>TCA346598194SRD5A2c.530G>A (p.Ser177Asn)
c.308G>A (p.Ser103Asn)
c.275G>A (p.Ser92Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.31531389T>ACA346598196SRD5A2c.529A>T (p.Ser177Cys)
c.307A>T (p.Ser103Cys)
c.274A>T (p.Ser92Cys)
2g.31531389T>CCA346598197SRD5A2c.529A>G (p.Ser177Gly)
c.307A>G (p.Ser103Gly)
c.274A>G (p.Ser92Gly)
 gnomAD v4
2g.31531389T>GCA346598198SRD5A2c.529A>C (p.Ser177Arg)
c.307A>C (p.Ser103Arg)
c.274A>C (p.Ser92Arg)
2g.31531390G>ACA425567521SRD5A2c.528C>T (p.Ile176=)
c.306C>T (p.Ile102=)
c.273C>T (p.Ile91=)
2g.31531390G>CCA346598199SRD5A2c.528C>G (p.Ile176Met)
c.306C>G (p.Ile102Met)
c.273C>G (p.Ile91Met)
2g.31531390G>TCA425567523SRD5A2c.528C>A (p.Ile176=)
c.306C>A (p.Ile102=)
c.273C>A (p.Ile91=)
 gnomAD v4
2g.31531391A>CCA346598200SRD5A2c.527T>G (p.Ile176Ser)
c.305T>G (p.Ile102Ser)
c.272T>G (p.Ile91Ser)
2g.31531391A>GCA346598201SRD5A2c.527T>C (p.Ile176Thr)
c.305T>C (p.Ile102Thr)
c.272T>C (p.Ile91Thr)
2g.31531391A>TCA346598202SRD5A2c.527T>A (p.Ile176Asn)
c.305T>A (p.Ile102Asn)
c.272T>A (p.Ile91Asn)
2g.31531392T>ACA346598203SRD5A2c.526A>T (p.Ile176Phe)
c.304A>T (p.Ile102Phe)
c.271A>T (p.Ile91Phe)
2g.31531392T>CCA346598204SRD5A2c.526A>G (p.Ile176Val)
c.304A>G (p.Ile102Val)
c.271A>G (p.Ile91Val)
2g.31531392T>GCA346598205SRD5A2c.526A>C (p.Ile176Leu)
c.304A>C (p.Ile102Leu)
c.271A>C (p.Ile91Leu)
2g.31531393T>ACA346598206SRD5A2c.525A>T (p.Glu175Asp)
c.303A>T (p.Glu101Asp)
c.270A>T (p.Glu90Asp)
2g.31531393T>CCA425567530SRD5A2c.525A>G (p.Glu175=)
c.303A>G (p.Glu101=)
c.270A>G (p.Glu90=)
2g.31531393T>GCA346598207SRD5A2c.525A>C (p.Glu175Asp)
c.303A>C (p.Glu101Asp)
c.270A>C (p.Glu90Asp)
2g.31531394T>ACA346598208SRD5A2c.524A>T (p.Glu175Val)
c.302A>T (p.Glu101Val)
c.269A>T (p.Glu90Val)
2g.31531394T>CCA346598210SRD5A2c.524A>G (p.Glu175Gly)
c.302A>G (p.Glu101Gly)
c.269A>G (p.Glu90Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.31531394T>GCA346598209SRD5A2c.524A>C (p.Glu175Ala)
c.302A>C (p.Glu101Ala)
c.269A>C (p.Glu90Ala)
2g.31531394T=CA1242198313SRD5A2c.524A= (p.Glu175=)
c.302A= (p.Glu101=)
c.269A= (p.Glu90=)
2g.31531395C>ACA346598211SRD5A2c.523G>T (p.Glu175Ter)
c.301G>T (p.Glu101Ter)
c.268G>T (p.Glu90Ter)
 gnomAD v4 COSMIC
2g.31531395C>GCA346598212SRD5A2c.523G>C (p.Glu175Gln)
c.301G>C (p.Glu101Gln)
c.268G>C (p.Glu90Gln)
2g.31531395C>TCA346598213SRD5A2c.523G>A (p.Glu175Lys)
c.301G>A (p.Glu101Lys)
c.268G>A (p.Glu90Lys)
2g.31531396T>ACA425567537SRD5A2c.522A>T (p.Gly174=)
c.300A>T (p.Gly100=)
c.267A>T (p.Gly89=)
2g.31531396T>CCA425567538SRD5A2c.522A>G (p.Gly174=)
c.300A>G (p.Gly100=)
c.267A>G (p.Gly89=)
 gnomAD v4
2g.31531396T>GCA425567540SRD5A2c.522A>C (p.Gly174=)
c.300A>C (p.Gly100=)
c.267A>C (p.Gly89=)
2g.31531397C>ACA346598214SRD5A2c.521G>T (p.Gly174Val)
c.299G>T (p.Gly100Val)
c.266G>T (p.Gly89Val)
 gnomAD v4
2g.31531397C>GCA346598215SRD5A2c.521G>C (p.Gly174Ala)
c.299G>C (p.Gly100Ala)
c.266G>C (p.Gly89Ala)
2g.31531397C>TCA346598216SRD5A2c.521G>A (p.Gly174Glu)
c.299G>A (p.Gly100Glu)
c.266G>A (p.Gly89Glu)
2g.31531398C>ACA346598217SRD5A2c.520G>T (p.Gly174Ter)
c.298G>T (p.Gly100Ter)
c.265G>T (p.Gly89Ter)
 gnomAD v4
2g.31531398C=CA1242198314SRD5A2c.520G= (p.Gly174=)
c.298G= (p.Gly100=)
c.265G= (p.Gly89=)
2g.31531398C>GCA346598218SRD5A2c.520G>C (p.Gly174Arg)
c.298G>C (p.Gly100Arg)
c.265G>C (p.Gly89Arg)
2g.31531398C>TCA45136527SRD5A2c.520G>A (p.Gly174Arg)
c.298G>A (p.Gly100Arg)
c.265G>A (p.Gly89Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531399A=CA1242198315SRD5A2c.519T= (p.Pro173=)
c.297T= (p.Pro99=)
c.264T= (p.Pro88=)
2g.31531399A>CCA425567548SRD5A2c.519T>G (p.Pro173=)
c.297T>G (p.Pro99=)
c.264T>G (p.Pro88=)
2g.31531399A>GCA425567551SRD5A2c.519T>C (p.Pro173=)
c.297T>C (p.Pro99=)
c.264T>C (p.Pro88=)
 gnomAD v4
2g.31531399A>TCA425567550SRD5A2c.519T>A (p.Pro173=)
c.297T>A (p.Pro99=)
c.264T>A (p.Pro88=)
 dbSNP gnomAD v2
2g.31531400G>ACA346598219SRD5A2c.518C>T (p.Pro173Leu)
c.296C>T (p.Pro99Leu)
c.263C>T (p.Pro88Leu)
 dbSNP gnomAD v4
2g.31531400G>CCA346598220SRD5A2c.518C>G (p.Pro173Arg)
c.296C>G (p.Pro99Arg)
c.263C>G (p.Pro88Arg)
 gnomAD v4
2g.31531400G=CA1242198316SRD5A2c.518C= (p.Pro173=)
c.296C= (p.Pro99=)
c.263C= (p.Pro88=)
2g.31531400G>TCA346598221SRD5A2c.518C>A (p.Pro173His)
c.296C>A (p.Pro99His)
c.263C>A (p.Pro88His)
2g.31531401G>ACA1599916SRD5A2c.517C>T (p.Pro173Ser)
c.295C>T (p.Pro99Ser)
c.262C>T (p.Pro88Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31531401G>CCA346598223SRD5A2c.517C>G (p.Pro173Ala)
c.295C>G (p.Pro99Ala)
c.262C>G (p.Pro88Ala)
 gnomAD v4
2g.31531401G=CA1242198317SRD5A2c.517C= (p.Pro173=)
c.295C= (p.Pro99=)
c.262C= (p.Pro88=)
2g.31531401G>TCA346598222SRD5A2c.517C>A (p.Pro173Thr)
c.295C>A (p.Pro99Thr)
c.262C>A (p.Pro88Thr)
 gnomAD v4
2g.31531402C>ACA346598224SRD5A2c.516G>T (p.Lys172Asn)
c.294G>T (p.Lys98Asn)
c.261G>T (p.Lys87Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.31531402C=CA1242198318SRD5A2c.516G= (p.Lys172=)
c.294G= (p.Lys98=)
c.261G= (p.Lys87=)
2g.31531402C>GCA346598225SRD5A2c.516G>C (p.Lys172Asn)
c.294G>C (p.Lys98Asn)
c.261G>C (p.Lys87Asn)
2g.31531402C>TCA425567559SRD5A2c.516G>A (p.Lys172=)
c.294G>A (p.Lys98=)
c.261G>A (p.Lys87=)
2g.31531403T>ACA346598226SRD5A2c.515A>T (p.Lys172Met)
c.293A>T (p.Lys98Met)
c.260A>T (p.Lys87Met)
2g.31531403T>CCA346598227SRD5A2c.515A>G (p.Lys172Arg)
c.293A>G (p.Lys98Arg)
c.260A>G (p.Lys87Arg)
 gnomAD v4
2g.31531403T>GCA346598228SRD5A2c.515A>C (p.Lys172Thr)
c.293A>C (p.Lys98Thr)
c.260A>C (p.Lys87Thr)
2g.31531404T>ACA346598229SRD5A2c.514A>T (p.Lys172Ter)
c.292A>T (p.Lys98Ter)
c.259A>T (p.Lys87Ter)
 dbSNP gnomAD v4
2g.31531404T>CCA346598230SRD5A2c.514A>G (p.Lys172Glu)
c.292A>G (p.Lys98Glu)
c.259A>G (p.Lys87Glu)
 gnomAD v4
2g.31531404T>GCA346598231SRD5A2c.514A>C (p.Lys172Gln)
c.292A>C (p.Lys98Gln)
c.259A>C (p.Lys87Gln)
2g.31531404T=CA1242198319SRD5A2c.514A= (p.Lys172=)
c.292A= (p.Lys98=)
c.259A= (p.Lys87=)
2g.31531405C>ACA346598232SRD5A2c.513G>T (p.Arg171Ser)
c.291G>T (p.Arg97Ser)
c.258G>T (p.Arg86Ser)
 dbSNP gnomAD v4
2g.31531405C=CA1242198320SRD5A2c.513G= (p.Arg171=)
c.291G= (p.Arg97=)
c.258G= (p.Arg86=)
2g.31531405C>GCA1599917SRD5A2c.513G>C (p.Arg171Ser)
c.291G>C (p.Arg97Ser)
c.258G>C (p.Arg86Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31531405C>TCA425567563SRD5A2c.513G>A (p.Arg171=)
c.291G>A (p.Arg97=)
c.258G>A (p.Arg86=)
 gnomAD v4
2g.31531406C>ACA346598233SRD5A2c.512G>T (p.Arg171Met)
c.290G>T (p.Arg97Met)
c.257G>T (p.Arg86Met)
 gnomAD v4
2g.31531406C>GCA346598234SRD5A2c.512G>C (p.Arg171Thr)
c.290G>C (p.Arg97Thr)
c.257G>C (p.Arg86Thr)
2g.31531406C>TCA346598235SRD5A2c.512G>A (p.Arg171Lys)
c.290G>A (p.Arg97Lys)
c.257G>A (p.Arg86Lys)
2g.31531407T>ACA346598236SRD5A2c.511A>T (p.Arg171Trp)
c.289A>T (p.Arg97Trp)
c.256A>T (p.Arg86Trp)
2g.31531407T>CCA346598237SRD5A2c.511A>G (p.Arg171Gly)
c.289A>G (p.Arg97Gly)
c.256A>G (p.Arg86Gly)
 gnomAD v4
2g.31531407T>GCA425567564SRD5A2c.511A>C (p.Arg171=)
c.289A>C (p.Arg97=)
c.256A>C (p.Arg86=)
2g.31531408G>ACA1599918SRD5A2c.510C>T (p.Leu170=)
c.288C>T (p.Leu96=)
c.255C>T (p.Leu85=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31531408G>CCA425567565SRD5A2c.510C>G (p.Leu170=)
c.288C>G (p.Leu96=)
c.255C>G (p.Leu85=)
2g.31531408G=CA1242198321SRD5A2c.510C= (p.Leu170=)
c.288C= (p.Leu96=)
c.255C= (p.Leu85=)
2g.31531408G>TCA425567566SRD5A2c.510C>A (p.Leu170=)
c.288C>A (p.Leu96=)
c.255C>A (p.Leu85=)
 gnomAD v4
2g.31531409A>CCA346598240SRD5A2c.509T>G (p.Leu170Arg)
c.287T>G (p.Leu96Arg)
c.254T>G (p.Leu85Arg)
2g.31531409A>GCA346598238SRD5A2c.509T>C (p.Leu170Pro)
c.287T>C (p.Leu96Pro)
c.254T>C (p.Leu85Pro)
2g.31531409A>TCA346598239SRD5A2c.509T>A (p.Leu170His)
c.287T>A (p.Leu96His)
c.254T>A (p.Leu85His)
2g.31531410G>ACA346598241SRD5A2c.508C>T (p.Leu170Phe)
c.286C>T (p.Leu96Phe)
c.253C>T (p.Leu85Phe)
2g.31531410G>CCA346598242SRD5A2c.508C>G (p.Leu170Val)
c.286C>G (p.Leu96Val)
c.253C>G (p.Leu85Val)
2g.31531410G>TCA346598243SRD5A2c.508C>A (p.Leu170Ile)
c.286C>A (p.Leu96Ile)
c.253C>A (p.Leu85Ile)
2g.31531411C>ACA346598244SRD5A2c.507G>T (p.Gln169His)
c.285G>T (p.Gln95His)
c.252G>T (p.Gln84His)
 gnomAD v4
2g.31531411C>GCA346598245SRD5A2c.507G>C (p.Gln169His)
c.285G>C (p.Gln95His)
c.252G>C (p.Gln84His)
2g.31531411C>TCA425567567SRD5A2c.507G>A (p.Gln169=)
c.285G>A (p.Gln95=)
c.252G>A (p.Gln84=)
 gnomAD v4
2g.31531412T>ACA346598246SRD5A2c.506A>T (p.Gln169Leu)
c.284A>T (p.Gln95Leu)
c.251A>T (p.Gln84Leu)
2g.31531412T>CCA346598247SRD5A2c.506A>G (p.Gln169Arg)
c.284A>G (p.Gln95Arg)
c.251A>G (p.Gln84Arg)
2g.31531412T>GCA346598248SRD5A2c.506A>C (p.Gln169Pro)
c.284A>C (p.Gln95Pro)
c.251A>C (p.Gln84Pro)
2g.31531413G>ACA346598249SRD5A2c.505C>T (p.Gln169Ter)
c.283C>T (p.Gln95Ter)
c.250C>T (p.Gln84Ter)
2g.31531413G>CCA346598250SRD5A2c.505C>G (p.Gln169Glu)
c.283C>G (p.Gln95Glu)
c.250C>G (p.Gln84Glu)
2g.31531413G>TCA346598251SRD5A2c.505C>A (p.Gln169Lys)
c.283C>A (p.Gln95Lys)
c.250C>A (p.Gln84Lys)
 gnomAD v4
2g.31531414G>ACA425567572SRD5A2c.504C>T (p.Arg168=)
c.282C>T (p.Arg94=)
c.249C>T (p.Arg83=)
 ClinVar dbSNP gnomAD v4
2g.31531414G>CCA425567573SRD5A2c.504C>G (p.Arg168=)
c.282C>G (p.Arg94=)
c.249C>G (p.Arg83=)
2g.31531414G=CA1242198322SRD5A2c.504C= (p.Arg168=)
c.282C= (p.Arg94=)
c.249C= (p.Arg83=)
2g.31531414G>TCA425567574SRD5A2c.504C>A (p.Arg168=)
c.282C>A (p.Arg94=)
c.249C>A (p.Arg83=)
 gnomAD v4
2g.31531415C>ACA1599920SRD5A2c.503G>T (p.Arg168Leu)
c.281G>T (p.Arg94Leu)
c.248G>T (p.Arg83Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31531415C=CA1242198323SRD5A2c.503G= (p.Arg168=)
c.281G= (p.Arg94=)
c.248G= (p.Arg83=)
2g.31531415C>GCA346598252SRD5A2c.503G>C (p.Arg168Pro)
c.281G>C (p.Arg94Pro)
c.248G>C (p.Arg83Pro)
 gnomAD v4
2g.31531415C>TCA1599919SRD5A2c.503G>A (p.Arg168His)
c.281G>A (p.Arg94His)
c.248G>A (p.Arg83His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.31531416G>ACA1599921SRD5A2c.502C>T (p.Arg168Cys)
c.280C>T (p.Arg94Cys)
c.247C>T (p.Arg83Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31531416G>CCA346598253SRD5A2c.502C>G (p.Arg168Gly)
c.280C>G (p.Arg94Gly)
c.247C>G (p.Arg83Gly)
2g.31531416G=CA1242198324SRD5A2c.502C= (p.Arg168=)
c.280C= (p.Arg94=)
c.247C= (p.Arg83=)
2g.31531416G>TCA346598254SRD5A2c.502C>A (p.Arg168Ser)
c.280C>A (p.Arg94Ser)
c.247C>A (p.Arg83Ser)
 gnomAD v4
2g.31531417C>ACA346598255SRD5A2c.501G>T (p.Leu167Phe)
c.279G>T (p.Leu93Phe)
c.246G>T (p.Leu82Phe)
 gnomAD v4
2g.31531417C>GCA346598256SRD5A2c.501G>C (p.Leu167Phe)
c.279G>C (p.Leu93Phe)
c.246G>C (p.Leu82Phe)
2g.31531417C>TCA425567582SRD5A2c.501G>A (p.Leu167=)
c.279G>A (p.Leu93=)
c.246G>A (p.Leu82=)
2g.31531418A=CA1242198325SRD5A2c.500T= (p.Leu167=)
c.278T= (p.Leu93=)
c.245T= (p.Leu82=)
2g.31531418A>CCA346598257SRD5A2c.500T>G (p.Leu167Trp)
c.278T>G (p.Leu93Trp)
c.245T>G (p.Leu82Trp)
2g.31531418A>GCA1599922SRD5A2c.500T>C (p.Leu167Ser)
c.278T>C (p.Leu93Ser)
c.245T>C (p.Leu82Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31531418A>TCA346598258SRD5A2c.500T>A (p.Leu167Ter)
c.278T>A (p.Leu93Ter)
c.245T>A (p.Leu82Ter)
 gnomAD v4
2g.31531419A>CCA346598259SRD5A2c.499T>G (p.Leu167Val)
c.277T>G (p.Leu93Val)
c.244T>G (p.Leu82Val)
2g.31531419A>GCA425567586SRD5A2c.499T>C (p.Leu167=)
c.277T>C (p.Leu93=)
c.244T>C (p.Leu82=)
2g.31531419A>TCA346598260SRD5A2c.499T>A (p.Leu167Met)
c.277T>A (p.Leu93Met)
c.244T>A (p.Leu82Met)
 gnomAD v4
2g.31531424_31531425delCA2698935712SRD5A2c.498_499del (p.Leu167AlafsTer?)
c.276_277del (p.Leu93AlafsTer?)
c.243_244del (p.Leu82AlafsTer?)
 dbSNP
2g.31531420T>ACA425567591SRD5A2c.498A>T (p.Ile166=)
c.276A>T (p.Ile92=)
c.243A>T (p.Ile81=)
2g.31531420T>CCA346598261SRD5A2c.498A>G (p.Ile166Met)
c.276A>G (p.Ile92Met)
c.243A>G (p.Ile81Met)
 gnomAD v4 COSMIC COSMIC
2g.31531420T>GCA425567589SRD5A2c.498A>C (p.Ile166=)
c.276A>C (p.Ile92=)
c.243A>C (p.Ile81=)
2g.31531421A=CA1242198326SRD5A2c.497T= (p.Ile166=)
c.275T= (p.Ile92=)
c.242T= (p.Ile81=)
2g.31531421A>CCA346598263SRD5A2c.497T>G (p.Ile166Arg)
c.275T>G (p.Ile92Arg)
c.242T>G (p.Ile81Arg)
2g.31531421A>GCA1599923SRD5A2c.497T>C (p.Ile166Thr)
c.275T>C (p.Ile92Thr)
c.242T>C (p.Ile81Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31531421A>TCA346598262SRD5A2c.497T>A (p.Ile166Lys)
c.275T>A (p.Ile92Lys)
c.242T>A (p.Ile81Lys)
2g.31531422T>ACA346598264SRD5A2c.496A>T (p.Ile166Leu)
c.274A>T (p.Ile92Leu)
c.241A>T (p.Ile81Leu)
2g.31531422T>CCA346598265SRD5A2c.496A>G (p.Ile166Val)
c.274A>G (p.Ile92Val)
c.241A>G (p.Ile81Val)
 dbSNP gnomAD v4
2g.31531422T>GCA346598266SRD5A2c.496A>C (p.Ile166Leu)
c.274A>C (p.Ile92Leu)
c.241A>C (p.Ile81Leu)
2g.31531422T=CA1242198327SRD5A2c.496A= (p.Ile166=)
c.274A= (p.Ile92=)
c.241A= (p.Ile81=)
2g.31531422_31531423insTCCA531712579SRD5A2c.495_496insGA (p.Ile166GlufsTer?)
c.273_274insGA (p.Ile92GlufsTer?)
c.240_241insGA (p.Ile81GlufsTer?)
 dbSNP gnomAD v2
2g.31531423A=CA1242198328SRD5A2c.495T= (p.Tyr165=)
c.273T= (p.Tyr91=)
c.240T= (p.Tyr80=)
2g.31531423A>CCA346598267SRD5A2c.495T>G (p.Tyr165Ter)
c.273T>G (p.Tyr91Ter)
c.240T>G (p.Tyr80Ter)
2g.31531423A>GCA1599924SRD5A2c.495T>C (p.Tyr165=)
c.273T>C (p.Tyr91=)
c.240T>C (p.Tyr80=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31531423A>TCA346598268SRD5A2c.495T>A (p.Tyr165Ter)
c.273T>A (p.Tyr91Ter)
c.240T>A (p.Tyr80Ter)
2g.31531424T>ACA346598271SRD5A2c.494A>T (p.Tyr165Phe)
c.272A>T (p.Tyr91Phe)
c.239A>T (p.Tyr80Phe)
2g.31531424T>CCA346598269SRD5A2c.494A>G (p.Tyr165Cys)
c.272A>G (p.Tyr91Cys)
c.239A>G (p.Tyr80Cys)
 gnomAD v4
2g.31531424T>GCA346598270SRD5A2c.494A>C (p.Tyr165Ser)
c.272A>C (p.Tyr91Ser)
c.239A>C (p.Tyr80Ser)
2g.31531425delCA2658498697SRD5A2c.493del (p.Tyr165IlefsTer?)
c.271del (p.Tyr91IlefsTer?)
c.238del (p.Tyr80IlefsTer?)
 gnomAD v4
2g.31531425A=CA1242198329SRD5A2c.493T= (p.Tyr165=)
c.271T= (p.Tyr91=)
c.238T= (p.Tyr80=)
2g.31531425A>CCA346598272SRD5A2c.493T>G (p.Tyr165Asp)
c.271T>G (p.Tyr91Asp)
c.238T>G (p.Tyr80Asp)
2g.31531425A>GCA346598273SRD5A2c.493T>C (p.Tyr165His)
c.271T>C (p.Tyr91His)
c.238T>C (p.Tyr80His)
2g.31531425A>TCA346598274SRD5A2c.493T>A (p.Tyr165Asn)
c.271T>A (p.Tyr91Asn)
c.238T>A (p.Tyr80Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.31531425_31531426insTCCA531712583SRD5A2c.492_493insGA (p.Tyr165AspfsTer?)
c.270_271insGA (p.Tyr91AspfsTer?)
c.237_238insGA (p.Tyr80AspfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531426G>ACA425567603SRD5A2c.492C>T (p.Asp164=)
c.270C>T (p.Asp90=)
c.237C>T (p.Asp79=)
2g.31531426G>CCA346598275SRD5A2c.492C>G (p.Asp164Glu)
c.270C>G (p.Asp90Glu)
c.237C>G (p.Asp79Glu)
 gnomAD v4
2g.31531426G>TCA346598276SRD5A2c.492C>A (p.Asp164Glu)
c.270C>A (p.Asp90Glu)
c.237C>A (p.Asp79Glu)
2g.31531427T>ACA346598277SRD5A2c.491A>T (p.Asp164Val)
c.269A>T (p.Asp90Val)
c.236A>T (p.Asp79Val)
 gnomAD v4
2g.31531427T>CCA346598279SRD5A2c.491A>G (p.Asp164Gly)
c.269A>G (p.Asp90Gly)
c.236A>G (p.Asp79Gly)
2g.31531427T>GCA346598278SRD5A2c.491A>C (p.Asp164Ala)
c.269A>C (p.Asp90Ala)
c.236A>C (p.Asp79Ala)
2g.31531428C>ACA346598280SRD5A2c.490G>T (p.Asp164Tyr)
c.268G>T (p.Asp90Tyr)
c.235G>T (p.Asp79Tyr)
 gnomAD v4
2g.31531428C>GCA346598281SRD5A2c.490G>C (p.Asp164His)
c.268G>C (p.Asp90His)
c.235G>C (p.Asp79His)
2g.31531428C>TCA346598282SRD5A2c.490G>A (p.Asp164Asn)
c.268G>A (p.Asp90Asn)
c.235G>A (p.Asp79Asn)
 gnomAD v4
2g.31531429A>CCA346598283SRD5A2c.489T>G (p.Ser163Arg)
c.267T>G (p.Ser89Arg)
c.234T>G (p.Ser78Arg)
2g.31531429A>GCA425567610SRD5A2c.489T>C (p.Ser163=)
c.267T>C (p.Ser89=)
c.234T>C (p.Ser78=)
2g.31531429A>TCA346598284SRD5A2c.489T>A (p.Ser163Arg)
c.267T>A (p.Ser89Arg)
c.234T>A (p.Ser78Arg)
2g.31531430C>ACA346598285SRD5A2c.488G>T (p.Ser163Ile)
c.266G>T (p.Ser89Ile)
c.233G>T (p.Ser78Ile)
2g.31531430C>GCA346598286SRD5A2c.488G>C (p.Ser163Thr)
c.266G>C (p.Ser89Thr)
c.233G>C (p.Ser78Thr)
2g.31531430C>TCA346598287SRD5A2c.488G>A (p.Ser163Asn)
c.266G>A (p.Ser89Asn)
c.233G>A (p.Ser78Asn)
2g.31531431T>ACA346598288SRD5A2c.487A>T (p.Ser163Cys)
c.265A>T (p.Ser89Cys)
c.232A>T (p.Ser78Cys)
 gnomAD v4
2g.31531431T>CCA346598289SRD5A2c.487A>G (p.Ser163Gly)
c.265A>G (p.Ser89Gly)
c.232A>G (p.Ser78Gly)
 gnomAD v4
2g.31531431T>GCA346598290SRD5A2c.487A>C (p.Ser163Arg)
c.265A>C (p.Ser89Arg)
c.232A>C (p.Ser78Arg)
2g.31531432A=CA1242198330SRD5A2c.486T= (p.His162=)
c.264T= (p.His88=)
c.231T= (p.His77=)
2g.31531432A>CCA346598291SRD5A2c.486T>G (p.His162Gln)
c.264T>G (p.His88Gln)
c.231T>G (p.His77Gln)
2g.31531432A>GCA1599925SRD5A2c.486T>C (p.His162=)
c.264T>C (p.His88=)
c.231T>C (p.His77=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31531432A>TCA346598292SRD5A2c.486T>A (p.His162Gln)
c.264T>A (p.His88Gln)
c.231T>A (p.His77Gln)
2g.31531433T>ACA346598293SRD5A2c.485A>T (p.His162Leu)
c.263A>T (p.His88Leu)
c.230A>T (p.His77Leu)
2g.31531433T>CCA346598295SRD5A2c.485A>G (p.His162Arg)
c.263A>G (p.His88Arg)
c.230A>G (p.His77Arg)
 gnomAD v4
2g.31531433T>GCA346598294SRD5A2c.485A>C (p.His162Pro)
c.263A>C (p.His88Pro)
c.230A>C (p.His77Pro)
 ClinVar dbSNP
2g.31531433T=CA1242198331SRD5A2c.485A= (p.His162=)
c.263A= (p.His88=)
c.230A= (p.His77=)
2g.31531434G>ACA346598296SRD5A2c.484C>T (p.His162Tyr)
c.262C>T (p.His88Tyr)
c.229C>T (p.His77Tyr)
2g.31531434G>CCA346598298SRD5A2c.484C>G (p.His162Asp)
c.262C>G (p.His88Asp)
c.229C>G (p.His77Asp)
2g.31531434G>TCA346598297SRD5A2c.484C>A (p.His162Asn)
c.262C>A (p.His88Asn)
c.229C>A (p.His77Asn)
 gnomAD v4
2g.31531435A>CCA346598299SRD5A2c.483T>G (p.Ile161Met)
c.261T>G (p.Ile87Met)
c.228T>G (p.Ile76Met)
2g.31531435A>GCA425567623SRD5A2c.483T>C (p.Ile161=)
c.261T>C (p.Ile87=)
c.228T>C (p.Ile76=)
2g.31531435A>TCA425567625SRD5A2c.483T>A (p.Ile161=)
c.261T>A (p.Ile87=)
c.228T>A (p.Ile76=)
2g.31531436A=CA1242198332SRD5A2c.482T= (p.Ile161=)
c.260T= (p.Ile87=)
c.227T= (p.Ile76=)
2g.31531436A>CCA346598302SRD5A2c.482T>G (p.Ile161Ser)
c.260T>G (p.Ile87Ser)
c.227T>G (p.Ile76Ser)
2g.31531436A>GCA346598300SRD5A2c.482T>C (p.Ile161Thr)
c.260T>C (p.Ile87Thr)
c.227T>C (p.Ile76Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.31531436A>TCA346598301SRD5A2c.482T>A (p.Ile161Asn)
c.260T>A (p.Ile87Asn)
c.227T>A (p.Ile76Asn)
2g.31531437T>ACA346598303SRD5A2c.481A>T (p.Ile161Phe)
c.259A>T (p.Ile87Phe)
c.226A>T (p.Ile76Phe)
2g.31531437T>CCA346598304SRD5A2c.481A>G (p.Ile161Val)
c.259A>G (p.Ile87Val)
c.226A>G (p.Ile76Val)
 dbSNP gnomAD v3 gnomAD v4
2g.31531437T>GCA346598305SRD5A2c.481A>C (p.Ile161Leu)
c.259A>C (p.Ile87Leu)
c.226A>C (p.Ile76Leu)
2g.31531437T=CA1242198333SRD5A2c.481A= (p.Ile161=)
c.259A= (p.Ile87=)
c.226A= (p.Ile76=)
2g.31531438G>ACA425567630SRD5A2c.480C>T (p.Asn160=)
c.258C>T (p.Asn86=)
c.225C>T (p.Asn75=)
 ClinVar gnomAD v4
2g.31531438G>CCA346598306SRD5A2c.480C>G (p.Asn160Lys)
c.258C>G (p.Asn86Lys)
c.225C>G (p.Asn75Lys)
2g.31531438G>TCA346598307SRD5A2c.480C>A (p.Asn160Lys)
c.258C>A (p.Asn86Lys)
c.225C>A (p.Asn75Lys)
 gnomAD v4
2g.31531439T>ACA346598308SRD5A2c.479A>T (p.Asn160Ile)
c.257A>T (p.Asn86Ile)
c.224A>T (p.Asn75Ile)
2g.31531439T>CCA346598309SRD5A2c.479A>G (p.Asn160Ser)
c.257A>G (p.Asn86Ser)
c.224A>G (p.Asn75Ser)
 gnomAD v4
2g.31531439T>GCA346598310SRD5A2c.479A>C (p.Asn160Thr)
c.257A>C (p.Asn86Thr)
c.224A>C (p.Asn75Thr)
2g.31531440T>ACA346598311SRD5A2c.478A>T (p.Asn160Tyr)
c.256A>T (p.Asn86Tyr)
c.223A>T (p.Asn75Tyr)
2g.31531440T>CCA346598312SRD5A2c.478A>G (p.Asn160Asp)
c.256A>G (p.Asn86Asp)
c.223A>G (p.Asn75Asp)
2g.31531440T>GCA346598313SRD5A2c.478A>C (p.Asn160His)
c.256A>C (p.Asn86His)
c.223A>C (p.Asn75His)
2g.31531441T>ACA425567636SRD5A2c.477A>T (p.Ile159=)
c.255A>T (p.Ile85=)
c.222A>T (p.Ile74=)
2g.31531441T>CCA346598314SRD5A2c.477A>G (p.Ile159Met)
c.255A>G (p.Ile85Met)
c.222A>G (p.Ile74Met)
2g.31531441T>GCA425567637SRD5A2c.477A>C (p.Ile159=)
c.255A>C (p.Ile85=)
c.222A>C (p.Ile74=)
2g.31531442A>CCA346598315SRD5A2c.476T>G (p.Ile159Arg)
c.254T>G (p.Ile85Arg)
c.221T>G (p.Ile74Arg)
2g.31531442A>GCA346598316SRD5A2c.476T>C (p.Ile159Thr)
c.254T>C (p.Ile85Thr)
c.221T>C (p.Ile74Thr)
2g.31531442A>TCA346598317SRD5A2c.476T>A (p.Ile159Lys)
c.254T>A (p.Ile85Lys)
c.221T>A (p.Ile74Lys)
2g.31531443T>ACA346598318SRD5A2c.475A>T (p.Ile159Leu)
c.253A>T (p.Ile85Leu)
c.220A>T (p.Ile74Leu)
2g.31531443T>CCA346598319SRD5A2c.475A>G (p.Ile159Val)
c.253A>G (p.Ile85Val)
c.220A>G (p.Ile74Val)
2g.31531443T>GCA346598320SRD5A2c.475A>C (p.Ile159Leu)
c.253A>C (p.Ile85Leu)
c.220A>C (p.Ile74Leu)
2g.31531444T>ACA425567644SRD5A2c.474A>T (p.Gly158=)
c.252A>T (p.Gly84=)
c.219A>T (p.Gly73=)
2g.31531444T>CCA425567645SRD5A2c.474A>G (p.Gly158=)
c.252A>G (p.Gly84=)
c.219A>G (p.Gly73=)
 gnomAD v4 COSMIC
2g.31531444T>GCA425567646SRD5A2c.474A>C (p.Gly158=)
c.252A>C (p.Gly84=)
c.219A>C (p.Gly73=)
2g.31531445C>ACA346598321SRD5A2c.473G>T (p.Gly158Val)
c.251G>T (p.Gly84Val)
c.218G>T (p.Gly73Val)
 gnomAD v4
2g.31531445C=CA1242198334SRD5A2c.473G= (p.Gly158=)
c.251G= (p.Gly84=)
c.218G= (p.Gly73=)
2g.31531445C>GCA346598322SRD5A2c.473G>C (p.Gly158Ala)
c.251G>C (p.Gly84Ala)
c.218G>C (p.Gly73Ala)
 gnomAD v4
2g.31531445C>TCA1599926SRD5A2c.473G>A (p.Gly158Glu)
c.251G>A (p.Gly84Glu)
c.218G>A (p.Gly73Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31531447delCA2658498714SRD5A2c.473del (p.Gly158GlufsTer2)
c.251del (p.Gly84GlufsTer2)
c.218del (p.Gly73GlufsTer2)
 gnomAD v4
2g.31531446C>ACA346598323SRD5A2c.472G>T (p.Gly158Ter)
c.250G>T (p.Gly84Ter)
c.217G>T (p.Gly73Ter)
 gnomAD v4
2g.31531446C>GCA346598324SRD5A2c.472G>C (p.Gly158Arg)
c.250G>C (p.Gly84Arg)
c.217G>C (p.Gly73Arg)
2g.31531446C>TCA346598325SRD5A2c.472G>A (p.Gly158Arg)
c.250G>A (p.Gly84Arg)
c.217G>A (p.Gly73Arg)
 gnomAD v4
2g.31531447C>ACA346598328SRD5A2c.471G>T (p.Met157Ile)
c.249G>T (p.Met83Ile)
c.216G>T (p.Met72Ile)
 gnomAD v4
2g.31531447C>GCA346598327SRD5A2c.471G>C (p.Met157Ile)
c.249G>C (p.Met83Ile)
c.216G>C (p.Met72Ile)
2g.31531447C>TCA346598326SRD5A2c.471G>A (p.Met157Ile)
c.249G>A (p.Met83Ile)
c.216G>A (p.Met72Ile)
 COSMIC COSMIC
2g.31531447_31531449delCA2586969029SRD5A2c.469_471del (p.Met157del)
c.247_249del (p.Met83del)
c.214_216del (p.Met72del)
2g.31531447_31531450delinsCATTCA1242198335SRD5A2c.468_471delinsAATG (p.Gly156=)
c.246_249delinsAATG (p.Gly82=)
c.213_216delinsAATG (p.Gly71=)
2g.31531448A=CA1242198336SRD5A2c.470T= (p.Met157=)
c.248T= (p.Met83=)
c.215T= (p.Met72=)
2g.31531448A>CCA346598329SRD5A2c.470T>G (p.Met157Arg)
c.248T>G (p.Met83Arg)
c.215T>G (p.Met72Arg)
 gnomAD v4
2g.31531448A>GCA346598330SRD5A2c.470T>C (p.Met157Thr)
c.248T>C (p.Met83Thr)
c.215T>C (p.Met72Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.31531448A>TCA346598331SRD5A2c.470T>A (p.Met157Lys)
c.248T>A (p.Met83Lys)
c.215T>A (p.Met72Lys)
2g.31531448_31531450delCA340066SRD5A2c.468_470del (p.Met157del)
c.246_248del (p.Met83del)
c.213_215del (p.Met72del)
 ClinVar dbSNP
2g.31531449T>ACA346598332SRD5A2c.469A>T (p.Met157Leu)
c.247A>T (p.Met83Leu)
c.214A>T (p.Met72Leu)
2g.31531449T>CCA346598333SRD5A2c.469A>G (p.Met157Val)
c.247A>G (p.Met83Val)
c.214A>G (p.Met72Val)
 dbSNP gnomAD v3 gnomAD v4
2g.31531449T>GCA346598334SRD5A2c.469A>C (p.Met157Leu)
c.247A>C (p.Met83Leu)
c.214A>C (p.Met72Leu)
2g.31531449T=CA1242198337SRD5A2c.469A= (p.Met157=)
c.247A= (p.Met83=)
c.214A= (p.Met72=)
2g.31531450T>ACA425567659SRD5A2c.468A>T (p.Gly156=)
c.246A>T (p.Gly82=)
c.213A>T (p.Gly71=)
2g.31531450T>CCA425567660SRD5A2c.468A>G (p.Gly156=)
c.246A>G (p.Gly82=)
c.213A>G (p.Gly71=)
2g.31531450T>GCA425567662SRD5A2c.468A>C (p.Gly156=)
c.246A>C (p.Gly82=)
c.213A>C (p.Gly71=)
2g.31531451C>ACA346598335SRD5A2c.467G>T (p.Gly156Val)
c.245G>T (p.Gly82Val)
c.212G>T (p.Gly71Val)
 gnomAD v4
2g.31531451C=CA1242198338SRD5A2c.467G= (p.Gly156=)
c.245G= (p.Gly82=)
c.212G= (p.Gly71=)
2g.31531451C>GCA346598336SRD5A2c.467G>C (p.Gly156Ala)
c.245G>C (p.Gly82Ala)
c.212G>C (p.Gly71Ala)
2g.31531451C>TCA346598337SRD5A2c.467G>A (p.Gly156Glu)
c.245G>A (p.Gly82Glu)
c.212G>A (p.Gly71Glu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.31531452C>ACA346598338SRD5A2c.466G>T (p.Gly156Ter)
c.244G>T (p.Gly82Ter)
c.211G>T (p.Gly71Ter)
 gnomAD v4
2g.31531452C>GCA346598339SRD5A2c.466G>C (p.Gly156Arg)
c.244G>C (p.Gly82Arg)
c.211G>C (p.Gly71Arg)
2g.31531452C>TCA346598340SRD5A2c.466G>A (p.Gly156Arg)
c.244G>A (p.Gly82Arg)
c.211G>A (p.Gly71Arg)
2g.31531453C>ACA346598341SRD5A2c.465G>T (p.Leu155Phe)
c.243G>T (p.Leu81Phe)
c.210G>T (p.Leu70Phe)
 gnomAD v4
2g.31531453C=CA1242198339SRD5A2c.465G= (p.Leu155=)
c.243G= (p.Leu81=)
c.210G= (p.Leu70=)
2g.31531453C>GCA346598342SRD5A2c.465G>C (p.Leu155Phe)
c.243G>C (p.Leu81Phe)
c.210G>C (p.Leu70Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531453C>TCA425567667SRD5A2c.465G>A (p.Leu155=)
c.243G>A (p.Leu81=)
c.210G>A (p.Leu70=)
 dbSNP gnomAD v3 gnomAD v4
2g.31531454A>CCA346598343SRD5A2c.464T>G (p.Leu155Trp)
c.242T>G (p.Leu81Trp)
c.209T>G (p.Leu70Trp)
2g.31531454A>GCA346598344SRD5A2c.464T>C (p.Leu155Ser)
c.242T>C (p.Leu81Ser)
c.209T>C (p.Leu70Ser)
 gnomAD v4
2g.31531454A>TCA346598345SRD5A2c.464T>A (p.Leu155Ter)
c.242T>A (p.Leu81Ter)
c.209T>A (p.Leu70Ter)
2g.31531457delCA531712594SRD5A2c.464del (p.Leu155TrpfsTer5)
c.242del (p.Leu81TrpfsTer5)
c.209del (p.Leu70TrpfsTer5)
 gnomAD v2 gnomAD v4
2g.31531455A>CCA346598346SRD5A2c.463T>G (p.Leu155Val)
c.241T>G (p.Leu81Val)
c.208T>G (p.Leu70Val)
2g.31531455A>GCA425567671SRD5A2c.463T>C (p.Leu155=)
c.241T>C (p.Leu81=)
c.208T>C (p.Leu70=)
 gnomAD v4
2g.31531455A>TCA346598347SRD5A2c.463T>A (p.Leu155Met)
c.241T>A (p.Leu81Met)
c.208T>A (p.Leu70Met)
2g.31531461_31531464delCA2658498723SRD5A2c.460_463del (p.Ile154TrpfsTer5)
c.238_241del (p.Ile80TrpfsTer5)
c.205_208del (p.Ile69TrpfsTer5)
 gnomAD v4
2g.31531456A=CA1242198340SRD5A2c.462T= (p.Ile154=)
c.240T= (p.Ile80=)
c.207T= (p.Ile69=)
2g.31531456A>CCA346598348SRD5A2c.462T>G (p.Ile154Met)
c.240T>G (p.Ile80Met)
c.207T>G (p.Ile69Met)
2g.31531456A>GCA425567672SRD5A2c.462T>C (p.Ile154=)
c.240T>C (p.Ile80=)
c.207T>C (p.Ile69=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.31531456A>TCA425567673SRD5A2c.462T>A (p.Ile154=)
c.240T>A (p.Ile80=)
c.207T>A (p.Ile69=)
2g.31531456_31531457insCACACCCAACACCA2749375066SRD5A2c.461_462insGTGTTGGGTGTG (p.Ile154delinsMetCysTrpValCys)
c.239_240insGTGTTGGGTGTG (p.Ile80delinsMetCysTrpValCys)
c.206_207insGTGTTGGGTGTG (p.Ile69delinsMetCysTrpValCys)
2g.31531457A>CCA346598349SRD5A2c.461T>G (p.Ile154Ser)
c.239T>G (p.Ile80Ser)
c.206T>G (p.Ile69Ser)
2g.31531457A>GCA346598350SRD5A2c.461T>C (p.Ile154Thr)
c.239T>C (p.Ile80Thr)
c.206T>C (p.Ile69Thr)
 gnomAD v4
2g.31531457A>TCA346598351SRD5A2c.461T>A (p.Ile154Asn)
c.239T>A (p.Ile80Asn)
c.206T>A (p.Ile69Asn)
2g.31531458T>ACA346598352SRD5A2c.460A>T (p.Ile154Phe)
c.238A>T (p.Ile80Phe)
c.205A>T (p.Ile69Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.31531458T>CCA346598353SRD5A2c.460A>G (p.Ile154Val)
c.238A>G (p.Ile80Val)
c.205A>G (p.Ile69Val)
2g.31531458T>GCA346598354SRD5A2c.460A>C (p.Ile154Leu)
c.238A>C (p.Ile80Leu)
c.205A>C (p.Ile69Leu)
2g.31531458T=CA1242198341SRD5A2c.460A= (p.Ile154=)
c.238A= (p.Ile80=)
c.205A= (p.Ile69=)
2g.31531459A>CCA346598355SRD5A2c.459T>G (p.Phe153Leu)
c.237T>G (p.Phe79Leu)
c.204T>G (p.Phe68Leu)
2g.31531459A>GCA425567679SRD5A2c.459T>C (p.Phe153=)
c.237T>C (p.Phe79=)
c.204T>C (p.Phe68=)
2g.31531459A>TCA346598356SRD5A2c.459T>A (p.Phe153Leu)
c.237T>A (p.Phe79Leu)
c.204T>A (p.Phe68Leu)
2g.31531460A>CCA346598357SRD5A2c.458T>G (p.Phe153Cys)
c.236T>G (p.Phe79Cys)
c.203T>G (p.Phe68Cys)
2g.31531460A>GCA346598359SRD5A2c.458T>C (p.Phe153Ser)
c.236T>C (p.Phe79Ser)
c.203T>C (p.Phe68Ser)
 gnomAD v4
2g.31531460A>TCA346598358SRD5A2c.458T>A (p.Phe153Tyr)
c.236T>A (p.Phe79Tyr)
c.203T>A (p.Phe68Tyr)
2g.31531461A=CA1242198343SRD5A2c.457T= (p.Phe153=)
c.235T= (p.Phe79=)
c.202T= (p.Phe68=)
2g.31531461A>CCA346598360SRD5A2c.457T>G (p.Phe153Val)
c.235T>G (p.Phe79Val)
c.202T>G (p.Phe68Val)
2g.31531461A>GCA346598361SRD5A2c.457T>C (p.Phe153Leu)
c.235T>C (p.Phe79Leu)
c.202T>C (p.Phe68Leu)
 dbSNP gnomAD v4
2g.31531461A>TCA346598362SRD5A2c.457T>A (p.Phe153Ile)
c.235T>A (p.Phe79Ile)
c.202T>A (p.Phe68Ile)
2g.31531461_31531462delinsATCA1242198342SRD5A2c.456_457delinsAT (p.Leu152=)
c.234_235delinsAT (p.Leu78=)
c.201_202delinsAT (p.Leu67=)
2g.31531462delCA531712602SRD5A2c.456del (p.Leu152PhefsTer8)
c.234del (p.Leu78PhefsTer8)
c.201del (p.Leu67PhefsTer8)
 dbSNP gnomAD v2
2g.31531462T>ACA346598363SRD5A2c.456A>T (p.Leu152Phe)
c.234A>T (p.Leu78Phe)
c.201A>T (p.Leu67Phe)
 gnomAD v2 gnomAD v4
2g.31531462T>CCA425567686SRD5A2c.456A>G (p.Leu152=)
c.234A>G (p.Leu78=)
c.201A>G (p.Leu67=)
2g.31531462T>GCA346598364SRD5A2c.456A>C (p.Leu152Phe)
c.234A>C (p.Leu78Phe)
c.201A>C (p.Leu67Phe)
2g.31531462_31531465delinsTAAGCA1242198344SRD5A2c.453_456delinsCTTA (p.Phe151=)
c.231_234delinsCTTA (p.Phe77=)
c.198_201delinsCTTA (p.Phe66=)
2g.31531463A>CCA346598365SRD5A2c.455T>G (p.Leu152Ter)
c.233T>G (p.Leu78Ter)
c.200T>G (p.Leu67Ter)
2g.31531463A>GCA346598366SRD5A2c.455T>C (p.Leu152Ser)
c.233T>C (p.Leu78Ser)
c.200T>C (p.Leu67Ser)
2g.31531463A>TCA346598367SRD5A2c.455T>A (p.Leu152Ter)
c.233T>A (p.Leu78Ter)
c.200T>A (p.Leu67Ter)
2g.31531467_31531469delCA1599927SRD5A2c.453_455del (p.Phe151del)
c.231_233del (p.Phe77del)
c.198_200del (p.Phe66del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31531464A>CCA346598368SRD5A2c.454T>G (p.Leu152Val)
c.232T>G (p.Leu78Val)
c.199T>G (p.Leu67Val)
2g.31531464A>GCA425567692SRD5A2c.454T>C (p.Leu152=)
c.232T>C (p.Leu78=)
c.199T>C (p.Leu67=)
2g.31531464A>TCA346598369SRD5A2c.454T>A (p.Leu152Ile)
c.232T>A (p.Leu78Ile)
c.199T>A (p.Leu67Ile)
2g.31531465delCA2576929368SRD5A2c.453del (p.Leu152TyrfsTer8)
c.231del (p.Leu78TyrfsTer8)
c.198del (p.Leu67TyrfsTer8)
 gnomAD v4
2g.31531465G>ACA1599928SRD5A2c.453C>T (p.Phe151=)
c.231C>T (p.Phe77=)
c.198C>T (p.Phe66=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31531465G>CCA346598371SRD5A2c.453C>G (p.Phe151Leu)
c.231C>G (p.Phe77Leu)
c.198C>G (p.Phe66Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.31531465G=CA1242198345SRD5A2c.453C= (p.Phe151=)
c.231C= (p.Phe77=)
c.198C= (p.Phe66=)
2g.31531465G>TCA346598370SRD5A2c.453C>A (p.Phe151Leu)
c.231C>A (p.Phe77Leu)
c.198C>A (p.Phe66Leu)
 dbSNP
2g.31531466A>CCA346598372SRD5A2c.452T>G (p.Phe151Cys)
c.230T>G (p.Phe77Cys)
c.197T>G (p.Phe66Cys)
2g.31531466A>GCA346598373SRD5A2c.452T>C (p.Phe151Ser)
c.230T>C (p.Phe77Ser)
c.197T>C (p.Phe66Ser)
2g.31531466A>TCA346598374SRD5A2c.452T>A (p.Phe151Tyr)
c.230T>A (p.Phe77Tyr)
c.197T>A (p.Phe66Tyr)
 gnomAD v4
2g.31531467A>CCA346598375SRD5A2c.451T>G (p.Phe151Val)
c.229T>G (p.Phe77Val)
c.196T>G (p.Phe66Val)
2g.31531467A>GCA346598376SRD5A2c.451T>C (p.Phe151Leu)
c.229T>C (p.Phe77Leu)
c.196T>C (p.Phe66Leu)
2g.31531467A>TCA346598377SRD5A2c.451T>A (p.Phe151Ile)
c.229T>A (p.Phe77Ile)
c.196T>A (p.Phe66Ile)
 gnomAD v4
2g.31531468delCA2586969030SRD5A2c.450del (p.Phe151SerfsTer9)
c.228del (p.Phe77SerfsTer9)
c.195del (p.Phe66SerfsTer9)
2g.31531468G>ACA425567701SRD5A2c.450C>T (p.Val150=)
c.228C>T (p.Val76=)
c.195C>T (p.Val65=)
 COSMIC
2g.31531468G>CCA425567702SRD5A2c.450C>G (p.Val150=)
c.228C>G (p.Val76=)
c.195C>G (p.Val65=)
 dbSNP gnomAD v2
2g.31531468G=CA1242198346SRD5A2c.450C= (p.Val150=)
c.228C= (p.Val76=)
c.195C= (p.Val65=)
2g.31531468G>TCA425567704SRD5A2c.450C>A (p.Val150=)
c.228C>A (p.Val76=)
c.195C>A (p.Val65=)
2g.31531468_31531478delCA2658498737SRD5A2c.446-6_450del
c.224-6_228del
c.191-6_195del
 gnomAD v4
2g.31531469A=CA1242198347SRD5A2c.449T= (p.Val150=)
c.227T= (p.Val76=)
c.194T= (p.Val65=)
2g.31531469A>CCA346598378SRD5A2c.449T>G (p.Val150Gly)
c.227T>G (p.Val76Gly)
c.194T>G (p.Val65Gly)
2g.31531469A>GCA346598379SRD5A2c.449T>C (p.Val150Ala)
c.227T>C (p.Val76Ala)
c.194T>C (p.Val65Ala)
 gnomAD v4
2g.31531469A>TCA346598380SRD5A2c.449T>A (p.Val150Asp)
c.227T>A (p.Val76Asp)
c.194T>A (p.Val65Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.31531470C>ACA346598381SRD5A2c.448G>T (p.Val150Phe)
c.226G>T (p.Val76Phe)
c.193G>T (p.Val65Phe)
2g.31531470C>GCA346598382SRD5A2c.448G>C (p.Val150Leu)
c.226G>C (p.Val76Leu)
c.193G>C (p.Val65Leu)
2g.31531470C>TCA346598383SRD5A2c.448G>A (p.Val150Ile)
c.226G>A (p.Val76Ile)
c.193G>A (p.Val65Ile)
 gnomAD v4
2g.31531471A>CCA425567709SRD5A2c.447T>G (p.Gly149=)
c.225T>G (p.Gly75=)
c.192T>G (p.Gly64=)
2g.31531471A>GCA425567710SRD5A2c.447T>C (p.Gly149=)
c.225T>C (p.Gly75=)
c.192T>C (p.Gly64=)
 gnomAD v4
2g.31531471A>TCA425567712SRD5A2c.447T>A (p.Gly149=)
c.225T>A (p.Gly75=)
c.192T>A (p.Gly64=)
2g.31531472C>ACA346598386SRD5A2c.446G>T (p.Gly149Val)
c.224G>T (p.Gly75Val)
c.191G>T (p.Gly64Val)
 dbSNP gnomAD v2 gnomAD v4
2g.31531472C=CA1242198348SRD5A2c.446G= (p.Gly149=)
c.224G= (p.Gly75=)
c.191G= (p.Gly64=)
2g.31531472C>GCA346598385SRD5A2c.446G>C (p.Gly149Ala)
c.224G>C (p.Gly75Ala)
c.191G>C (p.Gly64Ala)
2g.31531472C>TCA346598384SRD5A2c.446G>A (p.Gly149Asp)
c.224G>A (p.Gly75Asp)
c.191G>A (p.Gly64Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531473C>ACA346598387SRD5A2c.446-1G>T (n.446-1G>T)
c.224-1G>T (n.224-1G>T)
c.191-1G>T (n.191-1G>T)
 gnomAD v4
2g.31531473C=CA1242198349SRD5A2c.446-1G= (n.446-1G=)
c.224-1G= (n.224-1G=)
c.191-1G= (n.191-1G=)
2g.31531473C>GCA346598388SRD5A2c.446-1G>C (n.446-1G>C)
c.224-1G>C (n.224-1G>C)
c.191-1G>C (n.191-1G>C)
2g.31531473C>TCA346598389SRD5A2c.446-1G>A (n.446-1G>A)
c.224-1G>A (n.224-1G>A)
c.191-1G>A (n.191-1G>A)
 dbSNP gnomAD v2
2g.31531474T>ACA346598390SRD5A2c.446-2A>T (n.446-2A>T)
c.224-2A>T (n.224-2A>T)
c.191-2A>T (n.191-2A>T)
2g.31531474T>CCA346598391SRD5A2c.446-2A>G (n.446-2A>G)
c.224-2A>G (n.224-2A>G)
c.191-2A>G (n.191-2A>G)
2g.31531474T>GCA346598392SRD5A2c.446-2A>C (n.446-2A>C)
c.224-2A>C (n.224-2A>C)
c.191-2A>C (n.191-2A>C)
 dbSNP gnomAD v4
2g.31531474T=CA1242198350SRD5A2c.446-2A= (n.446-2A=)
c.224-2A= (n.224-2A=)
c.191-2A= (n.191-2A=)
2g.31531475T>CCA2658498743SRD5A2c.446-3A>G (n.446-3A>G)
c.224-3A>G (n.224-3A>G)
c.191-3A>G (n.191-3A>G)
 gnomAD v4
2g.31531476G>ACA531712612SRD5A2c.446-4C>T (n.446-4C>T)
c.224-4C>T (n.224-4C>T)
c.191-4C>T (n.191-4C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.31531476G>CCA2658498744SRD5A2c.446-4C>G (n.446-4C>G)
c.224-4C>G (n.224-4C>G)
c.191-4C>G (n.191-4C>G)
 gnomAD v4
2g.31531476G=CA1242198351SRD5A2c.446-4C= (n.446-4C=)
c.224-4C= (n.224-4C=)
c.191-4C= (n.191-4C=)
2g.31531476G>TCA2658498745SRD5A2c.446-4C>A (n.446-4C>A)
c.224-4C>A (n.224-4C>A)
c.191-4C>A (n.191-4C>A)
 gnomAD v4

Number of alleles fetched