Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.31533615G>ACA1599943SRD5A2c.433C>T (p.Arg145Trp)
c.211C>T (p.Arg71Trp)
c.178C>T (p.Arg60Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533615G>CCA346598427SRD5A2c.433C>G (p.Arg145Gly)
c.211C>G (p.Arg71Gly)
c.178C>G (p.Arg60Gly)
2g.31533615G=CA1242199312SRD5A2c.433C= (p.Arg145=)
c.211C= (p.Arg71=)
c.178C= (p.Arg60=)
2g.31533615G>TCA425568204SRD5A2c.433C>A (p.Arg145=)
c.211C>A (p.Arg71=)
c.178C>A (p.Arg60=)
 dbSNP gnomAD v3 gnomAD v4
2g.31533616T>ACA425568206SRD5A2c.432A>T (p.Ile144=)
c.210A>T (p.Ile70=)
c.177A>T (p.Ile59=)
2g.31533616T>CCA346598428SRD5A2c.432A>G (p.Ile144Met)
c.210A>G (p.Ile70Met)
c.177A>G (p.Ile59Met)
2g.31533616T>GCA425568208SRD5A2c.432A>C (p.Ile144=)
c.210A>C (p.Ile70=)
c.177A>C (p.Ile59=)
2g.31533617A>CCA346598429SRD5A2c.431T>G (p.Ile144Arg)
c.209T>G (p.Ile70Arg)
c.176T>G (p.Ile59Arg)
2g.31533617A>GCA346598430SRD5A2c.431T>C (p.Ile144Thr)
c.209T>C (p.Ile70Thr)
c.176T>C (p.Ile59Thr)
2g.31533617A>TCA346598431SRD5A2c.431T>A (p.Ile144Lys)
c.209T>A (p.Ile70Lys)
c.176T>A (p.Ile59Lys)
2g.31533617dupCA2576929420SRD5A2c.431dup (p.Arg145ThrfsTer3)
c.209dup (p.Arg71ThrfsTer3)
c.176dup (p.Arg60ThrfsTer3)
 ClinVar
2g.31533618T>ACA346598432SRD5A2c.430A>T (p.Ile144Leu)
c.208A>T (p.Ile70Leu)
c.175A>T (p.Ile59Leu)
 gnomAD v4
2g.31533618T>CCA346598434SRD5A2c.430A>G (p.Ile144Val)
c.208A>G (p.Ile70Val)
c.175A>G (p.Ile59Val)
 gnomAD v4
2g.31533618T>GCA346598433SRD5A2c.430A>C (p.Ile144Leu)
c.208A>C (p.Ile70Leu)
c.175A>C (p.Ile59Leu)
2g.31533619G>ACA425568215SRD5A2c.429C>T (p.Asp143=)
c.207C>T (p.Asp69=)
c.174C>T (p.Asp58=)
2g.31533619G>CCA346598435SRD5A2c.429C>G (p.Asp143Glu)
c.207C>G (p.Asp69Glu)
c.174C>G (p.Asp58Glu)
2g.31533619G>TCA346598436SRD5A2c.429C>A (p.Asp143Glu)
c.207C>A (p.Asp69Glu)
c.174C>A (p.Asp58Glu)
2g.31533620T>ACA1599944SRD5A2c.428A>T (p.Asp143Val)
c.206A>T (p.Asp69Val)
c.173A>T (p.Asp58Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533620T>CCA346598437SRD5A2c.428A>G (p.Asp143Gly)
c.206A>G (p.Asp69Gly)
c.173A>G (p.Asp58Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.31533620T>GCA346598438SRD5A2c.428A>C (p.Asp143Ala)
c.206A>C (p.Asp69Ala)
c.173A>C (p.Asp58Ala)
2g.31533620T=CA1242199313SRD5A2c.428A= (p.Asp143=)
c.206A= (p.Asp69=)
c.173A= (p.Asp58=)
2g.31533621C>ACA346598439SRD5A2c.427G>T (p.Asp143Tyr)
c.205G>T (p.Asp69Tyr)
c.172G>T (p.Asp58Tyr)
2g.31533621C=CA1242199314SRD5A2c.427G= (p.Asp143=)
c.205G= (p.Asp69=)
c.172G= (p.Asp58=)
2g.31533621C>GCA346598440SRD5A2c.427G>C (p.Asp143His)
c.205G>C (p.Asp69His)
c.172G>C (p.Asp58His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533621C>TCA346598441SRD5A2c.427G>A (p.Asp143Asn)
c.205G>A (p.Asp69Asn)
c.172G>A (p.Asp58Asn)
2g.31533622T>ACA425568220SRD5A2c.426A>T (p.Thr142=)
c.204A>T (p.Thr68=)
c.171A>T (p.Thr57=)
2g.31533622T>CCA425568221SRD5A2c.426A>G (p.Thr142=)
c.204A>G (p.Thr68=)
c.171A>G (p.Thr57=)
2g.31533622T>GCA425568222SRD5A2c.426A>C (p.Thr142=)
c.204A>C (p.Thr68=)
c.171A>C (p.Thr57=)
2g.31533623G>ACA1599945SRD5A2c.425C>T (p.Thr142Ile)
c.203C>T (p.Thr68Ile)
c.170C>T (p.Thr57Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533623G>CCA45136777SRD5A2c.425C>G (p.Thr142Arg)
c.203C>G (p.Thr68Arg)
c.170C>G (p.Thr57Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.31533623G=CA1242199315SRD5A2c.425C= (p.Thr142=)
c.203C= (p.Thr68=)
c.170C= (p.Thr57=)
2g.31533623G>TCA346598442SRD5A2c.425C>A (p.Thr142Lys)
c.203C>A (p.Thr68Lys)
c.170C>A (p.Thr57Lys)
2g.31533624T>ACA346598443SRD5A2c.424A>T (p.Thr142Ser)
c.202A>T (p.Thr68Ser)
c.169A>T (p.Thr57Ser)
2g.31533624T>CCA346598445SRD5A2c.424A>G (p.Thr142Ala)
c.202A>G (p.Thr68Ala)
c.169A>G (p.Thr57Ala)
2g.31533624T>GCA346598444SRD5A2c.424A>C (p.Thr142Pro)
c.202A>C (p.Thr68Pro)
c.169A>C (p.Thr57Pro)
2g.31533625G>ACA425568227SRD5A2c.423C>T (p.Tyr141=)
c.201C>T (p.Tyr67=)
c.168C>T (p.Tyr56=)
 gnomAD v4
2g.31533625G>CCA346598446SRD5A2c.423C>G (p.Tyr141Ter)
c.201C>G (p.Tyr67Ter)
c.168C>G (p.Tyr56Ter)
2g.31533625G>TCA346598447SRD5A2c.423C>A (p.Tyr141Ter)
c.201C>A (p.Tyr67Ter)
c.168C>A (p.Tyr56Ter)
 gnomAD v4
2g.31533626T>ACA346598448SRD5A2c.422A>T (p.Tyr141Phe)
c.200A>T (p.Tyr67Phe)
c.167A>T (p.Tyr56Phe)
2g.31533626T>CCA346598449SRD5A2c.422A>G (p.Tyr141Cys)
c.200A>G (p.Tyr67Cys)
c.167A>G (p.Tyr56Cys)
2g.31533626T>GCA346598450SRD5A2c.422A>C (p.Tyr141Ser)
c.200A>C (p.Tyr67Ser)
c.167A>C (p.Tyr56Ser)
2g.31533626_31533627insGCA2658499157SRD5A2c.421_422insC (p.Tyr141SerfsTer7)
c.199_200insC (p.Tyr67SerfsTer7)
c.166_167insC (p.Tyr56SerfsTer7)
 gnomAD v4
2g.31533627A=CA1242199316SRD5A2c.421T= (p.Tyr141=)
c.199T= (p.Tyr67=)
c.166T= (p.Tyr56=)
2g.31533627A>CCA346598451SRD5A2c.421T>G (p.Tyr141Asp)
c.199T>G (p.Tyr67Asp)
c.166T>G (p.Tyr56Asp)
2g.31533627A>GCA346598452SRD5A2c.421T>C (p.Tyr141His)
c.199T>C (p.Tyr67His)
c.166T>C (p.Tyr56His)
 dbSNP gnomAD v2 gnomAD v4
2g.31533627A>TCA346598453SRD5A2c.421T>A (p.Tyr141Asn)
c.199T>A (p.Tyr67Asn)
c.166T>A (p.Tyr56Asn)
2g.31533627_31533629delinsGAATCA2586969031SRD5A2c.419_421delinsATTC (p.Trp140TyrfsTer8)
c.197_199delinsATTC (p.Trp66TyrfsTer8)
c.164_166delinsATTC (p.Trp55TyrfsTer8)
2g.31533628C>ACA1599946SRD5A2c.420G>T (p.Trp140Cys)
c.198G>T (p.Trp66Cys)
c.165G>T (p.Trp55Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533628C=CA1242199317SRD5A2c.420G= (p.Trp140=)
c.198G= (p.Trp66=)
c.165G= (p.Trp55=)
2g.31533628C>GCA346598454SRD5A2c.420G>C (p.Trp140Cys)
c.198G>C (p.Trp66Cys)
c.165G>C (p.Trp55Cys)

Number of alleles fetched