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)

Number of alleles fetched