Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)

Number of alleles fetched