Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)

Number of alleles fetched