Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.31529246A>TCA2576929391SRD5A2c.698+61T>A (n.698+61T>A)
c.476+61T>A (n.476+61T>A)
c.443+61T>A (n.443+61T>A)
2g.31529249G>TCA2658498103SRD5A2c.698+58C>A (n.698+58C>A)
c.476+58C>A (n.476+58C>A)
c.443+58C>A (n.443+58C>A)
 gnomAD v4
2g.31529250C>ACA2658498104SRD5A2c.698+57G>T (n.698+57G>T)
c.476+57G>T (n.476+57G>T)
c.443+57G>T (n.443+57G>T)
 gnomAD v4
2g.31529251delCA2576929393SRD5A2c.698+57del (n.698+57del)
c.476+57del (n.476+57del)
c.443+57del (n.443+57del)
2g.31529253G>ACA2576929394SRD5A2c.698+54C>T (n.698+54C>T)
c.476+54C>T (n.476+54C>T)
c.443+54C>T (n.443+54C>T)
2g.31529254T>CCA1242197330SRD5A2c.698+53A>G (n.698+53A>G)
c.476+53A>G (n.476+53A>G)
c.443+53A>G (n.443+53A>G)
 dbSNP
2g.31529254T=CA1242197329SRD5A2c.698+53A= (n.698+53A=)
c.476+53A= (n.476+53A=)
c.443+53A= (n.443+53A=)
2g.31529255T>CCA2658498105SRD5A2c.698+52A>G (n.698+52A>G)
c.476+52A>G (n.476+52A>G)
c.443+52A>G (n.443+52A>G)
 gnomAD v4
2g.31529255T>GCA2576929397SRD5A2c.698+52A>C (n.698+52A>C)
c.476+52A>C (n.476+52A>C)
c.443+52A>C (n.443+52A>C)
 gnomAD v4
2g.31529256T>CCA767758708SRD5A2c.698+51A>G (n.698+51A>G)
c.476+51A>G (n.476+51A>G)
c.443+51A>G (n.443+51A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.31529256T=CA1242197331SRD5A2c.698+51A= (n.698+51A=)
c.476+51A= (n.476+51A=)
c.443+51A= (n.443+51A=)
2g.31529257G>ACA531711319SRD5A2c.698+50C>T (n.698+50C>T)
c.476+50C>T (n.476+50C>T)
c.443+50C>T (n.443+50C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31529257G=CA1242197332SRD5A2c.698+50C= (n.698+50C=)
c.476+50C= (n.476+50C=)
c.443+50C= (n.443+50C=)
2g.31529258delCA2576929398SRD5A2c.698+50del (n.698+50del)
c.476+50del (n.476+50del)
c.443+50del (n.443+50del)
 gnomAD v4
2g.31529258_31529260delCA2658498106SRD5A2c.698+48_698+50del (n.698+48_698+50del)
c.476+48_476+50del (n.476+48_476+50del)
c.443+48_443+50del (n.443+48_443+50del)
 dbSNP gnomAD v4
2g.31529258G>ACA1599855SRD5A2c.698+49C>T (n.698+49C>T)
c.476+49C>T (n.476+49C>T)
c.443+49C>T (n.443+49C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529258G=CA1242197334SRD5A2c.698+49C= (n.698+49C=)
c.476+49C= (n.476+49C=)
c.443+49C= (n.443+49C=)
2g.31529258_31529261delinsGAGACA1242197333SRD5A2c.698+46_698+49delinsTCTC (n.698+46_698+49delinsTCTC)
c.476+46_476+49delinsTCTC (n.476+46_476+49delinsTCTC)
c.443+46_443+49delinsTCTC (n.443+46_443+49delinsTCTC)
2g.31529266_31529268delCA1599856SRD5A2c.698+46_698+48del (n.698+46_698+48del)
c.476+46_476+48del (n.476+46_476+48del)
c.443+46_443+48del (n.443+46_443+48del)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.31529260_31529261delinsGACA1242197335SRD5A2c.698+46_698+47delinsTC (n.698+46_698+47delinsTC)
c.476+46_476+47delinsTC (n.476+46_476+47delinsTC)
c.443+46_443+47delinsTC (n.443+46_443+47delinsTC)
2g.31529262delCA1242197336SRD5A2c.698+46del (n.698+46del)
c.476+46del (n.476+46del)
c.443+46del (n.443+46del)
 dbSNP
2g.31529262A=CA1242197337SRD5A2c.698+45T= (n.698+45T=)
c.476+45T= (n.476+45T=)
c.443+45T= (n.443+45T=)
2g.31529262A>GCA1242197338SRD5A2c.698+45T>C (n.698+45T>C)
c.476+45T>C (n.476+45T>C)
c.443+45T>C (n.443+45T>C)
 dbSNP gnomAD v4
2g.31529263G=CA1242197340SRD5A2c.698+44C= (n.698+44C=)
c.476+44C= (n.476+44C=)
c.443+44C= (n.443+44C=)
2g.31529263G>TCA531711326SRD5A2c.698+44C>A (n.698+44C>A)
c.476+44C>A (n.476+44C>A)
c.443+44C>A (n.443+44C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.31529263_31529267delinsGAAGACA1242197339SRD5A2c.698+40_698+44delinsTCTTC (n.698+40_698+44delinsTCTTC)
c.476+40_476+44delinsTCTTC (n.476+40_476+44delinsTCTTC)
c.443+40_443+44delinsTCTTC (n.443+40_443+44delinsTCTTC)
2g.31529267_31529270delCA1599857SRD5A2c.698+40_698+43del (n.698+40_698+43del)
c.476+40_476+43del (n.476+40_476+43del)
c.443+40_443+43del (n.443+40_443+43del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529265A>TCA2658498107SRD5A2c.698+42T>A (n.698+42T>A)
c.476+42T>A (n.476+42T>A)
c.443+42T>A (n.443+42T>A)
 gnomAD v4
2g.31529269A>CCA2658498108SRD5A2c.698+38T>G (n.698+38T>G)
c.476+38T>G (n.476+38T>G)
c.443+38T>G (n.443+38T>G)
 gnomAD v4
2g.31529270G>ACA45136307SRD5A2c.698+37C>T (n.698+37C>T)
c.476+37C>T (n.476+37C>T)
c.443+37C>T (n.443+37C>T)
 dbSNP
2g.31529270G>CCA2658498109SRD5A2c.698+37C>G (n.698+37C>G)
c.476+37C>G (n.476+37C>G)
c.443+37C>G (n.443+37C>G)
 gnomAD v4
2g.31529270G=CA1242197342SRD5A2c.698+37C= (n.698+37C=)
c.476+37C= (n.476+37C=)
c.443+37C= (n.443+37C=)
2g.31529270G>TCA1242197341SRD5A2c.698+37C>A (n.698+37C>A)
c.476+37C>A (n.476+37C>A)
c.443+37C>A (n.443+37C>A)
 dbSNP
2g.31529271C>ACA2698934689SRD5A2c.698+36G>T (n.698+36G>T)
c.476+36G>T (n.476+36G>T)
c.443+36G>T (n.443+36G>T)
 dbSNP
2g.31529274C>ACA1599859SRD5A2c.698+33G>T (n.698+33G>T)
c.476+33G>T (n.476+33G>T)
c.443+33G>T (n.443+33G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.31529274C=CA1242197343SRD5A2c.698+33G= (n.698+33G=)
c.476+33G= (n.476+33G=)
c.443+33G= (n.443+33G=)
2g.31529274C>TCA1599858SRD5A2c.698+33G>A (n.698+33G>A)
c.476+33G>A (n.476+33G>A)
c.443+33G>A (n.443+33G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529275G>ACA1599860SRD5A2c.698+32C>T (n.698+32C>T)
c.476+32C>T (n.476+32C>T)
c.443+32C>T (n.443+32C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529275G=CA1242197344SRD5A2c.698+32C= (n.698+32C=)
c.476+32C= (n.476+32C=)
c.443+32C= (n.443+32C=)
2g.31529275G>TCA45136308SRD5A2c.698+32C>A (n.698+32C>A)
c.476+32C>A (n.476+32C>A)
c.443+32C>A (n.443+32C>A)
 dbSNP gnomAD v4
2g.31529276T>ACA2658498110SRD5A2c.698+31A>T (n.698+31A>T)
c.476+31A>T (n.476+31A>T)
c.443+31A>T (n.443+31A>T)
 gnomAD v4
2g.31529276T>CCA1242197346SRD5A2c.698+31A>G (n.698+31A>G)
c.476+31A>G (n.476+31A>G)
c.443+31A>G (n.443+31A>G)
 dbSNP
2g.31529276T=CA1242197345SRD5A2c.698+31A= (n.698+31A=)
c.476+31A= (n.476+31A=)
c.443+31A= (n.443+31A=)
2g.31529277G>ACA1599861SRD5A2c.698+30C>T (n.698+30C>T)
c.476+30C>T (n.476+30C>T)
c.443+30C>T (n.443+30C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529277G=CA1242197347SRD5A2c.698+30C= (n.698+30C=)
c.476+30C= (n.476+30C=)
c.443+30C= (n.443+30C=)
2g.31529279A=CA1242197348SRD5A2c.698+28T= (n.698+28T=)
c.476+28T= (n.476+28T=)
c.443+28T= (n.443+28T=)
2g.31529279A>CCA1242197349SRD5A2c.698+28T>G (n.698+28T>G)
c.476+28T>G (n.476+28T>G)
c.443+28T>G (n.443+28T>G)
 dbSNP
2g.31529280T>ACA2576929405SRD5A2c.698+27A>T (n.698+27A>T)
c.476+27A>T (n.476+27A>T)
c.443+27A>T (n.443+27A>T)
2g.31529282C>TCA2576929406SRD5A2c.698+25G>A (n.698+25G>A)
c.476+25G>A (n.476+25G>A)
c.443+25G>A (n.443+25G>A)
 dbSNP
2g.31529284G>ACA767758753SRD5A2c.698+23C>T (n.698+23C>T)
c.476+23C>T (n.476+23C>T)
c.443+23C>T (n.443+23C>T)
 dbSNP
2g.31529284G=CA1242197350SRD5A2c.698+23C= (n.698+23C=)
c.476+23C= (n.476+23C=)
c.443+23C= (n.443+23C=)
2g.31529285C>ACA2658498111SRD5A2c.698+22G>T (n.698+22G>T)
c.476+22G>T (n.476+22G>T)
c.443+22G>T (n.443+22G>T)
 gnomAD v4
2g.31529285C>TCA2525793163SRD5A2c.698+22G>A (n.698+22G>A)
c.476+22G>A (n.476+22G>A)
c.443+22G>A (n.443+22G>A)
2g.31529286C>ACA2658498112SRD5A2c.698+21G>T (n.698+21G>T)
c.476+21G>T (n.476+21G>T)
c.443+21G>T (n.443+21G>T)
 gnomAD v4
2g.31529286C=CA1242197351SRD5A2c.698+21G= (n.698+21G=)
c.476+21G= (n.476+21G=)
c.443+21G= (n.443+21G=)
2g.31529286C>TCA531711348SRD5A2c.698+21G>A (n.698+21G>A)
c.476+21G>A (n.476+21G>A)
c.443+21G>A (n.443+21G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31529287G>ACA1599862SRD5A2c.698+20C>T (n.698+20C>T)
c.476+20C>T (n.476+20C>T)
c.443+20C>T (n.443+20C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529287G=CA1242197352SRD5A2c.698+20C= (n.698+20C=)
c.476+20C= (n.476+20C=)
c.443+20C= (n.443+20C=)
2g.31529288C>TCA646590637SRD5A2c.698+19G>A (n.698+19G>A)
c.476+19G>A (n.476+19G>A)
c.443+19G>A (n.443+19G>A)
 COSMIC
2g.31529289T>CCA767758758SRD5A2c.698+18A>G (n.698+18A>G)
c.476+18A>G (n.476+18A>G)
c.443+18A>G (n.443+18A>G)
 dbSNP
2g.31529289T>GCA2698798713SRD5A2c.698+18A>C (n.698+18A>C)
c.476+18A>C (n.476+18A>C)
c.443+18A>C (n.443+18A>C)
 dbSNP
2g.31529289T=CA1242197353SRD5A2c.698+18A= (n.698+18A=)
c.476+18A= (n.476+18A=)
c.443+18A= (n.443+18A=)
2g.31529291T>CCA531711354SRD5A2c.698+16A>G (n.698+16A>G)
c.476+16A>G (n.476+16A>G)
c.443+16A>G (n.443+16A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.31529291T=CA1242197354SRD5A2c.698+16A= (n.698+16A=)
c.476+16A= (n.476+16A=)
c.443+16A= (n.443+16A=)
2g.31529294T>CCA45136309SRD5A2c.698+13A>G (n.698+13A>G)
c.476+13A>G (n.476+13A>G)
c.443+13A>G (n.443+13A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.31529294T=CA1242197355SRD5A2c.698+13A= (n.698+13A=)
c.476+13A= (n.476+13A=)
c.443+13A= (n.443+13A=)
2g.31529295T>GCA2576929409SRD5A2c.698+12A>C (n.698+12A>C)
c.476+12A>C (n.476+12A>C)
c.443+12A>C (n.443+12A>C)
2g.31529296G=CA1242197356SRD5A2c.698+11C= (n.698+11C=)
c.476+11C= (n.476+11C=)
c.443+11C= (n.443+11C=)
2g.31529296G>TCA2658498114SRD5A2c.698+11C>A (n.698+11C>A)
c.476+11C>A (n.476+11C>A)
c.443+11C>A (n.443+11C>A)
 gnomAD v4
2g.31529301dupCA1599863SRD5A2c.698+10dup (n.698+10dup)
c.476+10dup (n.476+10dup)
c.443+10dup (n.443+10dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529298A=CA1242197357SRD5A2c.698+9T= (n.698+9T=)
c.476+9T= (n.476+9T=)
c.443+9T= (n.443+9T=)
2g.31529298A>GCA2658498115SRD5A2c.698+9T>C (n.698+9T>C)
c.476+9T>C (n.476+9T>C)
c.443+9T>C (n.443+9T>C)
 gnomAD v4
2g.31529298A>TCA531711358SRD5A2c.698+9T>A (n.698+9T>A)
c.476+9T>A (n.476+9T>A)
c.443+9T>A (n.443+9T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.31529300A=CA1242197358SRD5A2c.698+7T= (n.698+7T=)
c.476+7T= (n.476+7T=)
c.443+7T= (n.443+7T=)
2g.31529300A>CCA1599864SRD5A2c.698+7T>G (n.698+7T>G)
c.476+7T>G (n.476+7T>G)
c.443+7T>G (n.443+7T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529301A>GCA2576929411SRD5A2c.698+6T>C (n.698+6T>C)
c.476+6T>C (n.476+6T>C)
c.443+6T>C (n.443+6T>C)
 gnomAD v4
2g.31529301_31529302delinsATCA1242197359SRD5A2c.698+5_698+6delinsAT (n.698+5_698+6delinsAT)
c.476+5_476+6delinsAT (n.476+5_476+6delinsAT)
c.443+5_443+6delinsAT (n.443+5_443+6delinsAT)
2g.31529302T>ACA2658498116SRD5A2c.698+5A>T (n.698+5A>T)
c.476+5A>T (n.476+5A>T)
c.443+5A>T (n.443+5A>T)
 gnomAD v4
2g.31529302T>CCA2658498117SRD5A2c.698+5A>G (n.698+5A>G)
c.476+5A>G (n.476+5A>G)
c.443+5A>G (n.443+5A>G)
 gnomAD v4
2g.31529304delCA531711365SRD5A2c.698+5del (n.698+5del)
c.476+5del (n.476+5del)
c.443+5del (n.443+5del)
 dbSNP gnomAD v2 gnomAD v4
2g.31529303T>GCA531711369SRD5A2c.698+4A>C (n.698+4A>C)
c.476+4A>C (n.476+4A>C)
c.443+4A>C (n.443+4A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31529303T=CA1242197360SRD5A2c.698+4A= (n.698+4A=)
c.476+4A= (n.476+4A=)
c.443+4A= (n.443+4A=)
2g.31529305A>CCA346597836SRD5A2c.698+2T>G (n.698+2T>G)
c.476+2T>G (n.476+2T>G)
c.443+2T>G (n.443+2T>G)
2g.31529305A>GCA346597837SRD5A2c.698+2T>C (n.698+2T>C)
c.476+2T>C (n.476+2T>C)
c.443+2T>C (n.443+2T>C)
 gnomAD v4
2g.31529305A>TCA346597838SRD5A2c.698+2T>A (n.698+2T>A)
c.476+2T>A (n.476+2T>A)
c.443+2T>A (n.443+2T>A)
2g.31529306C>ACA1599865SRD5A2c.698+1G>T (n.698+1G>T)
c.476+1G>T (n.476+1G>T)
c.443+1G>T (n.443+1G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529306C=CA1242197361SRD5A2c.698+1G= (n.698+1G=)
c.476+1G= (n.476+1G=)
c.443+1G= (n.443+1G=)
2g.31529306C>GCA346597839SRD5A2c.698+1G>C (n.698+1G>C)
c.476+1G>C (n.476+1G>C)
c.443+1G>C (n.443+1G>C)
2g.31529306C>TCA346597840SRD5A2c.698+1G>A (n.698+1G>A)
c.476+1G>A (n.476+1G>A)
c.443+1G>A (n.443+1G>A)
 dbSNP
2g.31529307C>ACA346597841SRD5A2c.698G>T (p.Arg233Met)
c.476G>T (p.Arg159Met)
c.443G>T (p.Arg148Met)
 COSMIC
2g.31529307C>GCA346597843SRD5A2c.698G>C (p.Arg233Thr)
c.476G>C (p.Arg159Thr)
c.443G>C (p.Arg148Thr)
2g.31529307C>TCA346597842SRD5A2c.698G>A (p.Arg233Lys)
c.476G>A (p.Arg159Lys)
c.443G>A (p.Arg148Lys)
 ClinVar gnomAD v4
2g.31529308T>ACA346597844SRD5A2c.697A>T (p.Arg233Trp)
c.475A>T (p.Arg159Trp)
c.442A>T (p.Arg148Trp)
2g.31529308T>CCA1599866SRD5A2c.697A>G (p.Arg233Gly)
c.475A>G (p.Arg159Gly)
c.442A>G (p.Arg148Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529308T>GCA425567393SRD5A2c.697A>C (p.Arg233=)
c.475A>C (p.Arg159=)
c.442A>C (p.Arg148=)
2g.31529308T=CA1242197362SRD5A2c.697A= (p.Arg233=)
c.475A= (p.Arg159=)
c.442A= (p.Arg148=)
2g.31529309A=CA1242197363SRD5A2c.696T= (p.His232=)
c.474T= (p.His158=)
c.441T= (p.His147=)
2g.31529309A>CCA346597845SRD5A2c.696T>G (p.His232Gln)
c.474T>G (p.His158Gln)
c.441T>G (p.His147Gln)
2g.31529309A>GCA224920SRD5A2c.696T>C (p.His232=)
c.474T>C (p.His158=)
c.441T>C (p.His147=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529309A>TCA346597846SRD5A2c.696T>A (p.His232Gln)
c.474T>A (p.His158Gln)
c.441T>A (p.His147Gln)
2g.31529310T>ACA1599867SRD5A2c.695A>T (p.His232Leu)
c.473A>T (p.His158Leu)
c.440A>T (p.His147Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529310T>CCA346597847SRD5A2c.695A>G (p.His232Arg)
c.473A>G (p.His158Arg)
c.440A>G (p.His147Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31529310T>GCA346597848SRD5A2c.695A>C (p.His232Pro)
c.473A>C (p.His158Pro)
c.440A>C (p.His147Pro)
 gnomAD v4
2g.31529310T=CA1242197364SRD5A2c.695A= (p.His232=)
c.473A= (p.His158=)
c.440A= (p.His147=)
2g.31529311G>ACA346597849SRD5A2c.694C>T (p.His232Tyr)
c.472C>T (p.His158Tyr)
c.439C>T (p.His147Tyr)
2g.31529311G>CCA346597850SRD5A2c.694C>G (p.His232Asp)
c.472C>G (p.His158Asp)
c.439C>G (p.His147Asp)
 ClinVar dbSNP
2g.31529311G=CA1242197365SRD5A2c.694C= (p.His232=)
c.472C= (p.His158=)
c.439C= (p.His147=)
2g.31529311G>TCA346597851SRD5A2c.694C>A (p.His232Asn)
c.472C>A (p.His158Asn)
c.439C>A (p.His147Asn)
2g.31529312delCA2698934705SRD5A2c.694del (p.His232IlefsTer?)
c.472del (p.His158IlefsTer?)
c.439del (p.His147IlefsTer?)
 dbSNP
2g.31529312G>ACA425567394SRD5A2c.693C>T (p.His231=)
c.471C>T (p.His157=)
c.438C>T (p.His146=)
2g.31529312G>CCA346597852SRD5A2c.693C>G (p.His231Gln)
c.471C>G (p.His157Gln)
c.438C>G (p.His146Gln)
 gnomAD v4
2g.31529312G>TCA346597853SRD5A2c.693C>A (p.His231Gln)
c.471C>A (p.His157Gln)
c.438C>A (p.His146Gln)
2g.31529313T>ACA346597854SRD5A2c.692A>T (p.His231Leu)
c.470A>T (p.His157Leu)
c.437A>T (p.His146Leu)
2g.31529313T>CCA340081SRD5A2c.692A>G (p.His231Arg)
c.470A>G (p.His157Arg)
c.437A>G (p.His146Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529313T>GCA346597855SRD5A2c.692A>C (p.His231Pro)
c.470A>C (p.His157Pro)
c.437A>C (p.His146Pro)
2g.31529313T=CA1242197366SRD5A2c.692A= (p.His231=)
c.470A= (p.His157=)
c.437A= (p.His146=)
2g.31529314G>ACA346597856SRD5A2c.691C>T (p.His231Tyr)
c.469C>T (p.His157Tyr)
c.436C>T (p.His146Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.[31529314G>A;31580732C>A]CA2499306156SRD5A2c.[169G>T;691C>T] (p.Glu57Ter)
c.[27-46966G>T;436C>T] (p.His146Tyr)
 ClinVar
2g.31529314G>CCA346597857SRD5A2c.691C>G (p.His231Asp)
c.469C>G (p.His157Asp)
c.436C>G (p.His146Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.31529314G=CA1242197367SRD5A2c.691C= (p.His231=)
c.469C= (p.His157=)
c.436C= (p.His146=)
2g.31529314G>TCA346597858SRD5A2c.691C>A (p.His231Asn)
c.469C>A (p.His157Asn)
c.436C>A (p.His146Asn)
2g.31529315G>ACA425567395SRD5A2c.690C>T (p.His230=)
c.468C>T (p.His156=)
c.435C>T (p.His145=)
2g.31529315G>CCA346597859SRD5A2c.690C>G (p.His230Gln)
c.468C>G (p.His156Gln)
c.435C>G (p.His145Gln)
2g.31529315G>TCA346597860SRD5A2c.690C>A (p.His230Gln)
c.468C>A (p.His156Gln)
c.435C>A (p.His145Gln)
2g.31529316T>ACA346597861SRD5A2c.689A>T (p.His230Leu)
c.467A>T (p.His156Leu)
c.434A>T (p.His145Leu)
2g.31529316T>CCA346597862SRD5A2c.689A>G (p.His230Arg)
c.467A>G (p.His156Arg)
c.434A>G (p.His145Arg)
2g.31529316T>GCA346597863SRD5A2c.689A>C (p.His230Pro)
c.467A>C (p.His156Pro)
c.434A>C (p.His145Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.31529316T=CA1242197368SRD5A2c.689A= (p.His230=)
c.467A= (p.His156=)
c.434A= (p.His145=)
2g.31529317G>ACA1599868SRD5A2c.688C>T (p.His230Tyr)
c.466C>T (p.His156Tyr)
c.433C>T (p.His145Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529317G>CCA346597864SRD5A2c.688C>G (p.His230Asp)
c.466C>G (p.His156Asp)
c.433C>G (p.His145Asp)
2g.31529317G=CA1242197369SRD5A2c.688C= (p.His230=)
c.466C= (p.His156=)
c.433C= (p.His145=)
2g.31529317G>TCA346597865SRD5A2c.688C>A (p.His230Asn)
c.466C>A (p.His156Asn)
c.433C>A (p.His145Asn)
2g.31529318A>CCA346597866SRD5A2c.687T>G (p.Phe229Leu)
c.465T>G (p.Phe155Leu)
c.432T>G (p.Phe144Leu)
2g.31529318A>GCA425567396SRD5A2c.687T>C (p.Phe229=)
c.465T>C (p.Phe155=)
c.432T>C (p.Phe144=)
 ClinVar gnomAD v4
2g.31529318A>TCA346597867SRD5A2c.687T>A (p.Phe229Leu)
c.465T>A (p.Phe155Leu)
c.432T>A (p.Phe144Leu)
2g.31529321delCA2697547972SRD5A2c.687del (p.His230ThrfsTer?)
c.465del (p.His156ThrfsTer?)
c.432del (p.His145ThrfsTer?)
 ClinVar
2g.31529319A=CA1242197370SRD5A2c.686T= (p.Phe229=)
c.464T= (p.Phe155=)
c.431T= (p.Phe144=)
2g.31529319A>CCA346597868SRD5A2c.686T>G (p.Phe229Cys)
c.464T>G (p.Phe155Cys)
c.431T>G (p.Phe144Cys)
2g.31529319A>GCA346597869SRD5A2c.686T>C (p.Phe229Ser)
c.464T>C (p.Phe155Ser)
c.431T>C (p.Phe144Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31529319A>TCA346597870SRD5A2c.686T>A (p.Phe229Tyr)
c.464T>A (p.Phe155Tyr)
c.431T>A (p.Phe144Tyr)
2g.31529320A>CCA346597871SRD5A2c.685T>G (p.Phe229Val)
c.463T>G (p.Phe155Val)
c.430T>G (p.Phe144Val)
2g.31529320A>GCA346597872SRD5A2c.685T>C (p.Phe229Leu)
c.463T>C (p.Phe155Leu)
c.430T>C (p.Phe144Leu)
 COSMIC
2g.31529320A>TCA346597873SRD5A2c.685T>A (p.Phe229Ile)
c.463T>A (p.Phe155Ile)
c.430T>A (p.Phe144Ile)
2g.31529321A>CCA425567397SRD5A2c.684T>G (p.Ala228=)
c.462T>G (p.Ala154=)
c.429T>G (p.Ala143=)
2g.31529321A>GCA425567398SRD5A2c.684T>C (p.Ala228=)
c.462T>C (p.Ala154=)
c.429T>C (p.Ala143=)
2g.31529321A>TCA425567399SRD5A2c.684T>A (p.Ala228=)
c.462T>A (p.Ala154=)
c.429T>A (p.Ala143=)
2g.31529322G>ACA346597874SRD5A2c.683C>T (p.Ala228Val)
c.461C>T (p.Ala154Val)
c.428C>T (p.Ala143Val)
 ClinVar dbSNP
2g.31529322G>CCA346597875SRD5A2c.683C>G (p.Ala228Gly)
c.461C>G (p.Ala154Gly)
c.428C>G (p.Ala143Gly)
 ClinVar
2g.31529322G=CA1242197371SRD5A2c.683C= (p.Ala228=)
c.461C= (p.Ala154=)
c.428C= (p.Ala143=)
2g.31529322G>TCA346597876SRD5A2c.683C>A (p.Ala228Asp)
c.461C>A (p.Ala154Asp)
c.428C>A (p.Ala143Asp)
2g.31529323C>ACA346597877SRD5A2c.682G>T (p.Ala228Ser)
c.460G>T (p.Ala154Ser)
c.427G>T (p.Ala143Ser)
2g.31529323C=CA1242197372SRD5A2c.682G= (p.Ala228=)
c.460G= (p.Ala154=)
c.427G= (p.Ala143=)
2g.31529323C>GCA1599869SRD5A2c.682G>C (p.Ala228Pro)
c.460G>C (p.Ala154Pro)
c.427G>C (p.Ala143Pro)
 dbSNP ExAC gnomAD v2
2g.31529323C>TCA340077SRD5A2c.682G>A (p.Ala228Thr)
c.460G>A (p.Ala154Thr)
c.427G>A (p.Ala143Thr)
 ClinVar dbSNP gnomAD v4
2g.31529324T>ACA425567402SRD5A2c.681A>T (p.Arg227=)
c.459A>T (p.Arg153=)
c.426A>T (p.Arg142=)
2g.31529324T>CCA425567401SRD5A2c.681A>G (p.Arg227=)
c.459A>G (p.Arg153=)
c.426A>G (p.Arg142=)
 gnomAD v4
2g.31529324T>GCA425567400SRD5A2c.681A>C (p.Arg227=)
c.459A>C (p.Arg153=)
c.426A>C (p.Arg142=)
2g.31529324T=CA2497028759SRD5A2c.681A= (p.Arg227=)
c.459A= (p.Arg153=)
c.426A= (p.Arg142=)
2g.31529325C>ACA346597878SRD5A2c.680G>T (p.Arg227Leu)
c.458G>T (p.Arg153Leu)
c.425G>T (p.Arg142Leu)
2g.31529325C=CA1242197373SRD5A2c.680G= (p.Arg227=)
c.458G= (p.Arg153=)
c.425G= (p.Arg142=)
2g.31529325C>GCA346597879SRD5A2c.680G>C (p.Arg227Pro)
c.458G>C (p.Arg153Pro)
c.425G>C (p.Arg142Pro)
2g.31529325C>TCA116158SRD5A2c.680G>A (p.Arg227Gln)
c.458G>A (p.Arg153Gln)
c.425G>A (p.Arg142Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529326G>ACA340074SRD5A2c.679C>T (p.Arg227Ter)
c.457C>T (p.Arg153Ter)
c.424C>T (p.Arg142Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.31529326G>CCA346597880SRD5A2c.679C>G (p.Arg227Gly)
c.457C>G (p.Arg153Gly)
c.424C>G (p.Arg142Gly)
 gnomAD v4
2g.31529326G=CA1242197374SRD5A2c.679C= (p.Arg227=)
c.457C= (p.Arg153=)
c.424C= (p.Arg142=)
2g.31529326G>TCA425567403SRD5A2c.679C>A (p.Arg227=)
c.457C>A (p.Arg153=)
c.424C>A (p.Arg142=)
2g.31529327C>ACA425567406SRD5A2c.678G>T (p.Leu226=)
c.456G>T (p.Leu152=)
c.423G>T (p.Leu141=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31529327C=CA1242197375SRD5A2c.678G= (p.Leu226=)
c.456G= (p.Leu152=)
c.423G= (p.Leu141=)
2g.31529327C>GCA425567405SRD5A2c.678G>C (p.Leu226=)
c.456G>C (p.Leu152=)
c.423G>C (p.Leu141=)
2g.31529327C>TCA425567404SRD5A2c.678G>A (p.Leu226=)
c.456G>A (p.Leu152=)
c.423G>A (p.Leu141=)
2g.31529328A=CA1242197376SRD5A2c.677T= (p.Leu226=)
c.455T= (p.Leu152=)
c.422T= (p.Leu141=)
2g.31529328A>CCA346597881SRD5A2c.677T>G (p.Leu226Arg)
c.455T>G (p.Leu152Arg)
c.422T>G (p.Leu141Arg)
2g.31529328A>GCA346597882SRD5A2c.677T>C (p.Leu226Pro)
c.455T>C (p.Leu152Pro)
c.422T>C (p.Leu141Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.31529328A>TCA346597883SRD5A2c.677T>A (p.Leu226Gln)
c.455T>A (p.Leu152Gln)
c.422T>A (p.Leu141Gln)
2g.31529329G>ACA425567407SRD5A2c.676C>T (p.Leu226=)
c.454C>T (p.Leu152=)
c.421C>T (p.Leu141=)
 COSMIC
2g.31529329G>CCA346597884SRD5A2c.676C>G (p.Leu226Val)
c.454C>G (p.Leu152Val)
c.421C>G (p.Leu141Val)
2g.31529329G>TCA346597885SRD5A2c.676C>A (p.Leu226Met)
c.454C>A (p.Leu152Met)
c.421C>A (p.Leu141Met)
2g.31529330C>ACA425567408SRD5A2c.675G>T (p.Gly225=)
c.453G>T (p.Gly151=)
c.420G>T (p.Gly140=)
2g.31529330C>GCA425567410SRD5A2c.675G>C (p.Gly225=)
c.453G>C (p.Gly151=)
c.420G>C (p.Gly140=)
2g.31529330C>TCA425567409SRD5A2c.675G>A (p.Gly225=)
c.453G>A (p.Gly151=)
c.420G>A (p.Gly140=)
 gnomAD v4
2g.31529331C>ACA346597886SRD5A2c.674G>T (p.Gly225Val)
c.452G>T (p.Gly151Val)
c.419G>T (p.Gly140Val)
2g.31529331C>GCA346597887SRD5A2c.674G>C (p.Gly225Ala)
c.452G>C (p.Gly151Ala)
c.419G>C (p.Gly140Ala)
2g.31529331C>TCA346597888SRD5A2c.674G>A (p.Gly225Glu)
c.452G>A (p.Gly151Glu)
c.419G>A (p.Gly140Glu)
2g.31529332C>ACA346597889SRD5A2c.673G>T (p.Gly225Trp)
c.451G>T (p.Gly151Trp)
c.418G>T (p.Gly140Trp)
2g.31529332C>GCA346597890SRD5A2c.673G>C (p.Gly225Arg)
c.451G>C (p.Gly151Arg)
c.418G>C (p.Gly140Arg)
2g.31529332C>TCA346597891SRD5A2c.673G>A (p.Gly225Arg)
c.451G>A (p.Gly151Arg)
c.418G>A (p.Gly140Arg)
2g.31529333A>CCA425567411SRD5A2c.672T>G (p.Leu224=)
c.450T>G (p.Leu150=)
c.417T>G (p.Leu139=)
2g.31529333A>GCA425567412SRD5A2c.672T>C (p.Leu224=)
c.450T>C (p.Leu150=)
c.417T>C (p.Leu139=)
 dbSNP
2g.31529333A>TCA425567413SRD5A2c.672T>A (p.Leu224=)
c.450T>A (p.Leu150=)
c.417T>A (p.Leu139=)
2g.31529334A=CA1242197377SRD5A2c.671T= (p.Leu224=)
c.449T= (p.Leu150=)
c.416T= (p.Leu139=)
2g.31529334A>CCA346597892SRD5A2c.671T>G (p.Leu224Arg)
c.449T>G (p.Leu150Arg)
c.416T>G (p.Leu139Arg)
2g.31529334A>GCA346597893SRD5A2c.671T>C (p.Leu224Pro)
c.449T>C (p.Leu150Pro)
c.416T>C (p.Leu139Pro)
2g.31529334A>TCA45136310SRD5A2c.671T>A (p.Leu224His)
c.449T>A (p.Leu150His)
c.416T>A (p.Leu139His)
 dbSNP
2g.31529335G>ACA346597894SRD5A2c.670C>T (p.Leu224Phe)
c.448C>T (p.Leu150Phe)
c.415C>T (p.Leu139Phe)
2g.31529335G>CCA1599870SRD5A2c.670C>G (p.Leu224Val)
c.448C>G (p.Leu150Val)
c.415C>G (p.Leu139Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529335G=CA1242197378SRD5A2c.670C= (p.Leu224=)
c.448C= (p.Leu150=)
c.415C= (p.Leu139=)
2g.31529335G>TCA45136311SRD5A2c.670C>A (p.Leu224Ile)
c.448C>A (p.Leu150Ile)
c.415C>A (p.Leu139Ile)
 dbSNP gnomAD v4
2g.31529336G>ACA425567414SRD5A2c.669C>T (p.Phe223=)
c.447C>T (p.Phe149=)
c.414C>T (p.Phe138=)
 COSMIC COSMIC COSMIC
2g.31529336G>CCA346597895SRD5A2c.669C>G (p.Phe223Leu)
c.447C>G (p.Phe149Leu)
c.414C>G (p.Phe138Leu)
 ClinVar
2g.31529336G>TCA346597896SRD5A2c.669C>A (p.Phe223Leu)
c.447C>A (p.Phe149Leu)
c.414C>A (p.Phe138Leu)
 gnomAD v4
2g.31529337A>CCA346597899SRD5A2c.668T>G (p.Phe223Cys)
c.446T>G (p.Phe149Cys)
c.413T>G (p.Phe138Cys)
2g.31529337A>GCA346597897SRD5A2c.668T>C (p.Phe223Ser)
c.446T>C (p.Phe149Ser)
c.413T>C (p.Phe138Ser)
2g.31529337A>TCA346597898SRD5A2c.668T>A (p.Phe223Tyr)
c.446T>A (p.Phe149Tyr)
c.413T>A (p.Phe138Tyr)
2g.31529338A=CA1242197379SRD5A2c.667T= (p.Phe223=)
c.445T= (p.Phe149=)
c.412T= (p.Phe138=)
2g.31529338A>CCA346597900SRD5A2c.667T>G (p.Phe223Val)
c.445T>G (p.Phe149Val)
c.412T>G (p.Phe138Val)
2g.31529338A>GCA346597901SRD5A2c.667T>C (p.Phe223Leu)
c.445T>C (p.Phe149Leu)
c.412T>C (p.Phe138Leu)
2g.31529338A>TCA346597902SRD5A2c.667T>A (p.Phe223Ile)
c.445T>A (p.Phe149Ile)
c.412T>A (p.Phe138Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.31529339A=CA1242197380SRD5A2c.666T= (p.Cys222=)
c.444T= (p.Cys148=)
c.411T= (p.Cys137=)
2g.31529339A>CCA346597903SRD5A2c.666T>G (p.Cys222Trp)
c.444T>G (p.Cys148Trp)
c.411T>G (p.Cys137Trp)
2g.31529339A>GCA425567415SRD5A2c.666T>C (p.Cys222=)
c.444T>C (p.Cys148=)
c.411T>C (p.Cys137=)
 COSMIC COSMIC
2g.31529339A>TCA346597904SRD5A2c.666T>A (p.Cys222Ter)
c.444T>A (p.Cys148Ter)
c.411T>A (p.Cys137Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.31529340C>ACA346597907SRD5A2c.665G>T (p.Cys222Phe)
c.443G>T (p.Cys148Phe)
c.410G>T (p.Cys137Phe)
 dbSNP
2g.31529340C>GCA346597906SRD5A2c.665G>C (p.Cys222Ser)
c.443G>C (p.Cys148Ser)
c.410G>C (p.Cys137Ser)
2g.31529340C>TCA346597905SRD5A2c.665G>A (p.Cys222Tyr)
c.443G>A (p.Cys148Tyr)
c.410G>A (p.Cys137Tyr)
 gnomAD v4
2g.31529341A>CCA346597908SRD5A2c.664T>G (p.Cys222Gly)
c.442T>G (p.Cys148Gly)
c.409T>G (p.Cys137Gly)
2g.31529341A>GCA346597910SRD5A2c.664T>C (p.Cys222Arg)
c.442T>C (p.Cys148Arg)
c.409T>C (p.Cys137Arg)
2g.31529341A>TCA346597909SRD5A2c.664T>A (p.Cys222Ser)
c.442T>A (p.Cys148Ser)
c.409T>A (p.Cys137Ser)
 gnomAD v4
2g.31529342_31529343delCA2586969022SRD5A2c.663_664del (p.Cys222PhefsTer11)
c.441_442del (p.Cys148PhefsTer11)
c.408_409del (p.Cys137PhefsTer11)
2g.31529342A>CCA425567416SRD5A2c.663T>G (p.Leu221=)
c.441T>G (p.Leu147=)
c.408T>G (p.Leu136=)
2g.31529342A>GCA425567417SRD5A2c.663T>C (p.Leu221=)
c.441T>C (p.Leu147=)
c.408T>C (p.Leu136=)
2g.31529342A>TCA425567418SRD5A2c.663T>A (p.Leu221=)
c.441T>A (p.Leu147=)
c.408T>A (p.Leu136=)
2g.31529343A=CA1242197381SRD5A2c.662T= (p.Leu221=)
c.440T= (p.Leu147=)
c.407T= (p.Leu136=)
2g.31529343A>CCA346597911SRD5A2c.662T>G (p.Leu221Arg)
c.440T>G (p.Leu147Arg)
c.407T>G (p.Leu136Arg)
2g.31529343A>GCA346597912SRD5A2c.662T>C (p.Leu221Pro)
c.440T>C (p.Leu147Pro)
c.407T>C (p.Leu136Pro)
 dbSNP
2g.31529343A>TCA346597913SRD5A2c.662T>A (p.Leu221His)
c.440T>A (p.Leu147His)
c.407T>A (p.Leu136His)
2g.31529344G>ACA346597914SRD5A2c.661C>T (p.Leu221Phe)
c.439C>T (p.Leu147Phe)
c.406C>T (p.Leu136Phe)
 COSMIC
2g.31529344G>CCA346597915SRD5A2c.661C>G (p.Leu221Val)
c.439C>G (p.Leu147Val)
c.406C>G (p.Leu136Val)
2g.31529344G>TCA346597916SRD5A2c.661C>A (p.Leu221Ile)
c.439C>A (p.Leu147Ile)
c.406C>A (p.Leu136Ile)
2g.31529345T>ACA425567420SRD5A2c.660A>T (p.Ser220=)
c.438A>T (p.Ser146=)
c.405A>T (p.Ser135=)
2g.31529345T>CCA425567421SRD5A2c.660A>G (p.Ser220=)
c.438A>G (p.Ser146=)
c.405A>G (p.Ser135=)
2g.31529345T>GCA425567419SRD5A2c.660A>C (p.Ser220=)
c.438A>C (p.Ser146=)
c.405A>C (p.Ser135=)
2g.31529346G>ACA346597917SRD5A2c.659C>T (p.Ser220Leu)
c.437C>T (p.Ser146Leu)
c.404C>T (p.Ser135Leu)
2g.31529346G>CCA346597918SRD5A2c.659C>G (p.Ser220Ter)
c.437C>G (p.Ser146Ter)
c.404C>G (p.Ser135Ter)
2g.31529346G>TCA346597919SRD5A2c.659C>A (p.Ser220Ter)
c.437C>A (p.Ser146Ter)
c.404C>A (p.Ser135Ter)

Number of alleles fetched