Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.31529353dupCA2586969023SRD5A2c.656dup (p.Ser220LeufsTer14)
c.434dup (p.Ser146LeufsTer14)
c.401dup (p.Ser135LeufsTer14)
2g.31529353delCA224872SRD5A2c.656del (p.Phe219SerfsTer?)
c.434del (p.Phe145SerfsTer?)
c.401del (p.Phe134SerfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529351A=CA1242197384SRD5A2c.654T= (p.Phe218=)
c.432T= (p.Phe144=)
c.399T= (p.Phe133=)
2g.31529351A>CCA346597930SRD5A2c.654T>G (p.Phe218Leu)
c.432T>G (p.Phe144Leu)
c.399T>G (p.Phe133Leu)
2g.31529351A>GCA425567429SRD5A2c.654T>C (p.Phe218=)
c.432T>C (p.Phe144=)
c.399T>C (p.Phe133=)
2g.31529351A>TCA346597931SRD5A2c.654T>A (p.Phe218Leu)
c.432T>A (p.Phe144Leu)
c.399T>A (p.Phe133Leu)
 dbSNP
2g.31529352A>CCA346597932SRD5A2c.653T>G (p.Phe218Cys)
c.431T>G (p.Phe144Cys)
c.398T>G (p.Phe133Cys)
2g.31529352A>GCA346597933SRD5A2c.653T>C (p.Phe218Ser)
c.431T>C (p.Phe144Ser)
c.398T>C (p.Phe133Ser)
2g.31529352A>TCA346597934SRD5A2c.653T>A (p.Phe218Tyr)
c.431T>A (p.Phe144Tyr)
c.398T>A (p.Phe133Tyr)
2g.31529353A>CCA346597935SRD5A2c.652T>G (p.Phe218Val)
c.430T>G (p.Phe144Val)
c.397T>G (p.Phe133Val)
2g.31529353A>GCA346597936SRD5A2c.652T>C (p.Phe218Leu)
c.430T>C (p.Phe144Leu)
c.397T>C (p.Phe133Leu)
2g.31529353A>TCA346597937SRD5A2c.652T>A (p.Phe218Ile)
c.430T>A (p.Phe144Ile)
c.397T>A (p.Phe133Ile)
2g.31529354T>ACA1599871SRD5A2c.651A>T (p.Ala217=)
c.429A>T (p.Ala143=)
c.396A>T (p.Ala132=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529354T>CCA425567430SRD5A2c.651A>G (p.Ala217=)
c.429A>G (p.Ala143=)
c.396A>G (p.Ala132=)
 ClinVar dbSNP
2g.31529354T>GCA425567431SRD5A2c.651A>C (p.Ala217=)
c.429A>C (p.Ala143=)
c.396A>C (p.Ala132=)
2g.31529354T=CA1242197385SRD5A2c.651A= (p.Ala217=)
c.429A= (p.Ala143=)
c.396A= (p.Ala132=)
2g.31529355G>ACA346597938SRD5A2c.650C>T (p.Ala217Val)
c.428C>T (p.Ala143Val)
c.395C>T (p.Ala132Val)
2g.31529355G>CCA346597940SRD5A2c.650C>G (p.Ala217Gly)
c.428C>G (p.Ala143Gly)
c.395C>G (p.Ala132Gly)
2g.31529355G>TCA346597939SRD5A2c.650C>A (p.Ala217Glu)
c.428C>A (p.Ala143Glu)
c.395C>A (p.Ala132Glu)
 COSMIC
2g.31529356C>ACA346597941SRD5A2c.649G>T (p.Ala217Ser)
c.427G>T (p.Ala143Ser)
c.394G>T (p.Ala132Ser)
 dbSNP
2g.31529356C=CA1242197386SRD5A2c.649G= (p.Ala217=)
c.427G= (p.Ala143=)
c.394G= (p.Ala132=)
2g.31529356C>GCA346597942SRD5A2c.649G>C (p.Ala217Pro)
c.427G>C (p.Ala143Pro)
c.394G>C (p.Ala132Pro)
2g.31529356C>TCA45136313SRD5A2c.649G>A (p.Ala217Thr)
c.427G>A (p.Ala143Thr)
c.394G>A (p.Ala132Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.31529357A>CCA346597943SRD5A2c.648T>G (p.Phe216Leu)
c.426T>G (p.Phe142Leu)
c.393T>G (p.Phe131Leu)
2g.31529357A>GCA425567432SRD5A2c.648T>C (p.Phe216=)
c.426T>C (p.Phe142=)
c.393T>C (p.Phe131=)
2g.31529357A>TCA346597944SRD5A2c.648T>A (p.Phe216Leu)
c.426T>A (p.Phe142Leu)
c.393T>A (p.Phe131Leu)
2g.31529358A>CCA346597947SRD5A2c.647T>G (p.Phe216Cys)
c.425T>G (p.Phe142Cys)
c.392T>G (p.Phe131Cys)
2g.31529358A>GCA346597946SRD5A2c.647T>C (p.Phe216Ser)
c.425T>C (p.Phe142Ser)
c.392T>C (p.Phe131Ser)
2g.31529358A>TCA346597945SRD5A2c.647T>A (p.Phe216Tyr)
c.425T>A (p.Phe142Tyr)
c.392T>A (p.Phe131Tyr)
2g.31529359A>CCA346597948SRD5A2c.646T>G (p.Phe216Val)
c.424T>G (p.Phe142Val)
c.391T>G (p.Phe131Val)
2g.31529359A>GCA346597949SRD5A2c.646T>C (p.Phe216Leu)
c.424T>C (p.Phe142Leu)
c.391T>C (p.Phe131Leu)
2g.31529359A>TCA346597950SRD5A2c.646T>A (p.Phe216Ile)
c.424T>A (p.Phe142Ile)
c.391T>A (p.Phe131Ile)
2g.31529360T>ACA425567433SRD5A2c.645A>T (p.Ala215=)
c.423A>T (p.Ala141=)
c.390A>T (p.Ala130=)
2g.31529360T>CCA425567434SRD5A2c.645A>G (p.Ala215=)
c.423A>G (p.Ala141=)
c.390A>G (p.Ala130=)
 gnomAD v4
2g.31529360T>GCA425567435SRD5A2c.645A>C (p.Ala215=)
c.423A>C (p.Ala141=)
c.390A>C (p.Ala130=)
2g.31529361G>ACA45136314SRD5A2c.644C>T (p.Ala215Val)
c.422C>T (p.Ala141Val)
c.389C>T (p.Ala130Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31529361G>CCA346597951SRD5A2c.644C>G (p.Ala215Gly)
c.422C>G (p.Ala141Gly)
c.389C>G (p.Ala130Gly)
 gnomAD v4
2g.31529361G=CA1242197387SRD5A2c.644C= (p.Ala215=)
c.422C= (p.Ala141=)
c.389C= (p.Ala130=)
2g.31529361G>TCA346597952SRD5A2c.644C>A (p.Ala215Glu)
c.422C>A (p.Ala141Glu)
c.389C>A (p.Ala130Glu)
2g.31529362C>ACA45136315SRD5A2c.643G>T (p.Ala215Ser)
c.421G>T (p.Ala141Ser)
c.388G>T (p.Ala130Ser)
 dbSNP
2g.31529362C=CA1242197388SRD5A2c.643G= (p.Ala215=)
c.421G= (p.Ala141=)
c.388G= (p.Ala130=)
2g.31529362C>GCA346597954SRD5A2c.643G>C (p.Ala215Pro)
c.421G>C (p.Ala141Pro)
c.388G>C (p.Ala130Pro)
2g.31529362C>TCA346597953SRD5A2c.643G>A (p.Ala215Thr)
c.421G>A (p.Ala141Thr)
c.388G>A (p.Ala130Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.31529362dupCA646590719SRD5A2c.643dup (p.Ala215GlyfsTer19)
c.421dup (p.Ala141GlyfsTer19)
c.388dup (p.Ala130GlyfsTer19)
 COSMIC
2g.31529363A>CCA425567436SRD5A2c.642T>G (p.Leu214=)
c.420T>G (p.Leu140=)
c.387T>G (p.Leu129=)
2g.31529363A>GCA425567437SRD5A2c.642T>C (p.Leu214=)
c.420T>C (p.Leu140=)
c.387T>C (p.Leu129=)
2g.31529363A>TCA425567438SRD5A2c.642T>A (p.Leu214=)
c.420T>A (p.Leu140=)
c.387T>A (p.Leu129=)
2g.31529364delCA2586969024SRD5A2c.642del (p.Ala215HisfsTer?)
c.420del (p.Ala141HisfsTer?)
c.387del (p.Ala130HisfsTer?)
2g.31529364A>CCA346597955SRD5A2c.641T>G (p.Leu214Arg)
c.419T>G (p.Leu140Arg)
c.386T>G (p.Leu129Arg)
2g.31529364A>GCA346597956SRD5A2c.641T>C (p.Leu214Pro)
c.419T>C (p.Leu140Pro)
c.386T>C (p.Leu129Pro)
2g.31529364A>TCA346597957SRD5A2c.641T>A (p.Leu214His)
c.419T>A (p.Leu140His)
c.386T>A (p.Leu129His)
2g.31529365G>ACA346597958SRD5A2c.640C>T (p.Leu214Phe)
c.418C>T (p.Leu140Phe)
c.385C>T (p.Leu129Phe)
2g.31529365G>CCA346597959SRD5A2c.640C>G (p.Leu214Val)
c.418C>G (p.Leu140Val)
c.385C>G (p.Leu129Val)
2g.31529365G>TCA346597960SRD5A2c.640C>A (p.Leu214Ile)
c.418C>A (p.Leu140Ile)
c.385C>A (p.Leu129Ile)
2g.31529366delCA2658498130SRD5A2c.639del (p.Ala215HisfsTer?)
c.417del (p.Ala141HisfsTer?)
c.384del (p.Ala130HisfsTer?)
 gnomAD v4
2g.31529366T>ACA425567439SRD5A2c.639A>T (p.Ala213=)
c.417A>T (p.Ala139=)
c.384A>T (p.Ala128=)
2g.31529366T>CCA1599872SRD5A2c.639A>G (p.Ala213=)
c.417A>G (p.Ala139=)
c.384A>G (p.Ala128=)
 dbSNP ExAC gnomAD v2
2g.31529366T>GCA425567440SRD5A2c.639A>C (p.Ala213=)
c.417A>C (p.Ala139=)
c.384A>C (p.Ala128=)
2g.31529366T=CA1242197389SRD5A2c.639A= (p.Ala213=)
c.417A= (p.Ala139=)
c.384A= (p.Ala128=)
2g.31529367G>ACA346597961SRD5A2c.638C>T (p.Ala213Val)
c.416C>T (p.Ala139Val)
c.383C>T (p.Ala128Val)
 dbSNP
2g.31529367G>CCA346597962SRD5A2c.638C>G (p.Ala213Gly)
c.416C>G (p.Ala139Gly)
c.383C>G (p.Ala128Gly)
2g.31529367G=CA1242197390SRD5A2c.638C= (p.Ala213=)
c.416C= (p.Ala139=)
c.383C= (p.Ala128=)
2g.31529367G>TCA45136316SRD5A2c.638C>A (p.Ala213Glu)
c.416C>A (p.Ala139Glu)
c.383C>A (p.Ala128Glu)
 dbSNP
2g.31529368C>ACA346597963SRD5A2c.637G>T (p.Ala213Ser)
c.415G>T (p.Ala139Ser)
c.382G>T (p.Ala128Ser)
2g.31529368C=CA1242197391SRD5A2c.637G= (p.Ala213=)
c.415G= (p.Ala139=)
c.382G= (p.Ala128=)
2g.31529368C>GCA346597965SRD5A2c.637G>C (p.Ala213Pro)
c.415G>C (p.Ala139Pro)
c.382G>C (p.Ala128Pro)
2g.31529368C>TCA346597964SRD5A2c.637G>A (p.Ala213Thr)
c.415G>A (p.Ala139Thr)
c.382G>A (p.Ala128Thr)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.31529369T>ACA425567441SRD5A2c.636A>T (p.Pro212=)
c.414A>T (p.Pro138=)
c.381A>T (p.Pro127=)
2g.31529369T>CCA1599873SRD5A2c.636A>G (p.Pro212=)
c.414A>G (p.Pro138=)
c.381A>G (p.Pro127=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529369T>GCA425567442SRD5A2c.636A>C (p.Pro212=)
c.414A>C (p.Pro138=)
c.381A>C (p.Pro127=)
2g.31529369T=CA1242197392SRD5A2c.636A= (p.Pro212=)
c.414A= (p.Pro138=)
c.381A= (p.Pro127=)
2g.31529370G>ACA346597966SRD5A2c.635C>T (p.Pro212Leu)
c.413C>T (p.Pro138Leu)
c.380C>T (p.Pro127Leu)
2g.31529370G>CCA340083SRD5A2c.635C>G (p.Pro212Arg)
c.413C>G (p.Pro138Arg)
c.380C>G (p.Pro127Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529370G=CA1242197393SRD5A2c.635C= (p.Pro212=)
c.413C= (p.Pro138=)
c.380C= (p.Pro127=)
2g.31529370G>TCA346597967SRD5A2c.635C>A (p.Pro212Gln)
c.413C>A (p.Pro138Gln)
c.380C>A (p.Pro127Gln)
 COSMIC
2g.31529370_31529371delinsCACA2586969025SRD5A2c.634_635delinsTG (p.Pro212Ter)
c.412_413delinsTG (p.Pro138Ter)
c.379_380delinsTG (p.Pro127Ter)
2g.31529371G>ACA1599874SRD5A2c.634C>T (p.Pro212Ser)
c.412C>T (p.Pro138Ser)
c.379C>T (p.Pro127Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529371G>CCA346597968SRD5A2c.634C>G (p.Pro212Ala)
c.412C>G (p.Pro138Ala)
c.379C>G (p.Pro127Ala)
2g.31529371G=CA1242197394SRD5A2c.634C= (p.Pro212=)
c.412C= (p.Pro138=)
c.379C= (p.Pro127=)
2g.31529371G>TCA346597969SRD5A2c.634C>A (p.Pro212Thr)
c.412C>A (p.Pro138Thr)
c.379C>A (p.Pro127Thr)
 COSMIC
2g.31529372G>ACA425567445SRD5A2c.633C>T (p.Leu211=)
c.411C>T (p.Leu137=)
c.378C>T (p.Leu126=)
 dbSNP gnomAD v4
2g.31529372G>CCA425567444SRD5A2c.633C>G (p.Leu211=)
c.411C>G (p.Leu137=)
c.378C>G (p.Leu126=)
2g.31529372G=CA1242197395SRD5A2c.633C= (p.Leu211=)
c.411C= (p.Leu137=)
c.378C= (p.Leu126=)
2g.31529372G>TCA425567443SRD5A2c.633C>A (p.Leu211=)
c.411C>A (p.Leu137=)
c.378C>A (p.Leu126=)
2g.31529373A>CCA346597970SRD5A2c.632T>G (p.Leu211Arg)
c.410T>G (p.Leu137Arg)
c.377T>G (p.Leu126Arg)
2g.31529373A>GCA346597971SRD5A2c.632T>C (p.Leu211Pro)
c.410T>C (p.Leu137Pro)
c.377T>C (p.Leu126Pro)
2g.31529373A>TCA346597972SRD5A2c.632T>A (p.Leu211His)
c.410T>A (p.Leu137His)
c.377T>A (p.Leu126His)
2g.31529374G>ACA346597975SRD5A2c.631C>T (p.Leu211Phe)
c.409C>T (p.Leu137Phe)
c.376C>T (p.Leu126Phe)
 dbSNP gnomAD v4 COSMIC
2g.31529374G>CCA346597974SRD5A2c.631C>G (p.Leu211Val)
c.409C>G (p.Leu137Val)
c.376C>G (p.Leu126Val)
2g.31529374G>TCA346597973SRD5A2c.631C>A (p.Leu211Ile)
c.409C>A (p.Leu137Ile)
c.376C>A (p.Leu126Ile)
2g.31529375G>ACA425567446SRD5A2c.630C>T (p.Ser210=)
c.408C>T (p.Ser136=)
c.375C>T (p.Ser125=)
 ClinVar dbSNP gnomAD v4
2g.31529375G>CCA425567447SRD5A2c.630C>G (p.Ser210=)
c.408C>G (p.Ser136=)
c.375C>G (p.Ser125=)
2g.31529375G=CA1242197396SRD5A2c.630C= (p.Ser210=)
c.408C= (p.Ser136=)
c.375C= (p.Ser125=)
2g.31529375G>TCA425567448SRD5A2c.630C>A (p.Ser210=)
c.408C>A (p.Ser136=)
c.375C>A (p.Ser125=)
2g.31529376G>ACA346597976SRD5A2c.629C>T (p.Ser210Phe)
c.407C>T (p.Ser136Phe)
c.374C>T (p.Ser125Phe)
2g.31529376G>CCA346597977SRD5A2c.629C>G (p.Ser210Cys)
c.407C>G (p.Ser136Cys)
c.374C>G (p.Ser125Cys)
 gnomAD v4
2g.31529376G>TCA346597978SRD5A2c.629C>A (p.Ser210Tyr)
c.407C>A (p.Ser136Tyr)
c.374C>A (p.Ser125Tyr)
 gnomAD v4
2g.31529377A>CCA346597979SRD5A2c.628T>G (p.Ser210Ala)
c.406T>G (p.Ser136Ala)
c.373T>G (p.Ser125Ala)
2g.31529377A>GCA346597980SRD5A2c.628T>C (p.Ser210Pro)
c.406T>C (p.Ser136Pro)
c.373T>C (p.Ser125Pro)
2g.31529377A>TCA346597981SRD5A2c.628T>A (p.Ser210Thr)
c.406T>A (p.Ser136Thr)
c.373T>A (p.Ser125Thr)
 gnomAD v4
2g.31529378C>ACA346597982SRD5A2c.627G>T (p.Trp209Cys)
c.405G>T (p.Trp135Cys)
c.372G>T (p.Trp124Cys)
2g.31529378C>GCA346597983SRD5A2c.627G>C (p.Trp209Cys)
c.405G>C (p.Trp135Cys)
c.372G>C (p.Trp124Cys)
2g.31529378C>TCA346597984SRD5A2c.627G>A (p.Trp209Ter)
c.405G>A (p.Trp135Ter)
c.372G>A (p.Trp124Ter)
 gnomAD v4
2g.31529379C>ACA346597985SRD5A2c.626G>T (p.Trp209Leu)
c.404G>T (p.Trp135Leu)
c.371G>T (p.Trp124Leu)
2g.31529379C>GCA346597986SRD5A2c.626G>C (p.Trp209Ser)
c.404G>C (p.Trp135Ser)
c.371G>C (p.Trp124Ser)
2g.31529379C>TCA346597987SRD5A2c.626G>A (p.Trp209Ter)
c.404G>A (p.Trp135Ter)
c.371G>A (p.Trp124Ter)
2g.31529380A=CA1242197397SRD5A2c.625T= (p.Trp209=)
c.403T= (p.Trp135=)
c.370T= (p.Trp124=)
2g.31529380A>CCA346597989SRD5A2c.625T>G (p.Trp209Gly)
c.403T>G (p.Trp135Gly)
c.370T>G (p.Trp124Gly)
2g.31529380A>GCA346597990SRD5A2c.625T>C (p.Trp209Arg)
c.403T>C (p.Trp135Arg)
c.370T>C (p.Trp124Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.31529380A>TCA346597988SRD5A2c.625T>A (p.Trp209Arg)
c.403T>A (p.Trp135Arg)
c.370T>A (p.Trp124Arg)
2g.31529381A>CCA425567449SRD5A2c.624T>G (p.Thr208=)
c.402T>G (p.Thr134=)
c.369T>G (p.Thr123=)
2g.31529381A>GCA425567450SRD5A2c.624T>C (p.Thr208=)
c.402T>C (p.Thr134=)
c.369T>C (p.Thr123=)
2g.31529381A>TCA425567451SRD5A2c.624T>A (p.Thr208=)
c.402T>A (p.Thr134=)
c.369T>A (p.Thr123=)
2g.31529382G>ACA1599875SRD5A2c.623C>T (p.Thr208Ile)
c.401C>T (p.Thr134Ile)
c.368C>T (p.Thr123Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529382G>CCA346597991SRD5A2c.623C>G (p.Thr208Ser)
c.401C>G (p.Thr134Ser)
c.368C>G (p.Thr123Ser)
 gnomAD v4
2g.31529382G=CA1242197398SRD5A2c.623C= (p.Thr208=)
c.401C= (p.Thr134=)
c.368C= (p.Thr123=)
2g.31529382G>TCA346597992SRD5A2c.623C>A (p.Thr208Asn)
c.401C>A (p.Thr134Asn)
c.368C>A (p.Thr123Asn)
2g.31529383T>ACA346597993SRD5A2c.622A>T (p.Thr208Ser)
c.400A>T (p.Thr134Ser)
c.367A>T (p.Thr123Ser)
2g.31529383T>CCA346597994SRD5A2c.622A>G (p.Thr208Ala)
c.400A>G (p.Thr134Ala)
c.367A>G (p.Thr123Ala)
 dbSNP gnomAD v4
2g.31529383T>GCA346597995SRD5A2c.622A>C (p.Thr208Pro)
c.400A>C (p.Thr134Pro)
c.367A>C (p.Thr123Pro)
2g.31529383T=CA1242197399SRD5A2c.622A= (p.Thr208=)
c.400A= (p.Thr134=)
c.367A= (p.Thr123=)
2g.31529384G>ACA425567452SRD5A2c.621C>T (p.Ala207=)
c.399C>T (p.Ala133=)
c.366C>T (p.Ala122=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.31529384G>CCA425567453SRD5A2c.621C>G (p.Ala207=)
c.399C>G (p.Ala133=)
c.366C>G (p.Ala122=)
2g.31529384G=CA1242197400SRD5A2c.621C= (p.Ala207=)
c.399C= (p.Ala133=)
c.366C= (p.Ala122=)
2g.31529384G>TCA425567454SRD5A2c.621C>A (p.Ala207=)
c.399C>A (p.Ala133=)
c.366C>A (p.Ala122=)
2g.31529385G>ACA346597996SRD5A2c.620C>T (p.Ala207Val)
c.398C>T (p.Ala133Val)
c.365C>T (p.Ala122Val)
 dbSNP
2g.31529385G>CCA346597997SRD5A2c.620C>G (p.Ala207Gly)
c.398C>G (p.Ala133Gly)
c.365C>G (p.Ala122Gly)
2g.31529385G=CA1242197401SRD5A2c.620C= (p.Ala207=)
c.398C= (p.Ala133=)
c.365C= (p.Ala122=)
2g.31529385G>TCA1599876SRD5A2c.620C>A (p.Ala207Asp)
c.398C>A (p.Ala133Asp)
c.365C>A (p.Ala122Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529386C>ACA346597998SRD5A2c.619G>T (p.Ala207Ser)
c.397G>T (p.Ala133Ser)
c.364G>T (p.Ala122Ser)
2g.31529386C=CA1242197402SRD5A2c.619G= (p.Ala207=)
c.397G= (p.Ala133=)
c.364G= (p.Ala122=)
2g.31529386C>GCA346597999SRD5A2c.619G>C (p.Ala207Pro)
c.397G>C (p.Ala133Pro)
c.364G>C (p.Ala122Pro)
 gnomAD v4
2g.31529386C>TCA1599877SRD5A2c.619G>A (p.Ala207Thr)
c.397G>A (p.Ala133Thr)
c.364G>A (p.Ala122Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529387C>ACA425567457SRD5A2c.618G>T (p.Leu206=)
c.396G>T (p.Leu132=)
c.363G>T (p.Leu121=)
 dbSNP gnomAD v2 gnomAD v4
2g.31529387C=CA1242197403SRD5A2c.618G= (p.Leu206=)
c.396G= (p.Leu132=)
c.363G= (p.Leu121=)
2g.31529387C>GCA425567456SRD5A2c.618G>C (p.Leu206=)
c.396G>C (p.Leu132=)
c.363G>C (p.Leu121=)
2g.31529387C>TCA425567455SRD5A2c.618G>A (p.Leu206=)
c.396G>A (p.Leu132=)
c.363G>A (p.Leu121=)
2g.31529388A>CCA346598002SRD5A2c.617T>G (p.Leu206Arg)
c.395T>G (p.Leu132Arg)
c.362T>G (p.Leu121Arg)
2g.31529388A>GCA346598001SRD5A2c.617T>C (p.Leu206Pro)
c.395T>C (p.Leu132Pro)
c.362T>C (p.Leu121Pro)
 gnomAD v4
2g.31529388A>TCA346598000SRD5A2c.617T>A (p.Leu206Gln)
c.395T>A (p.Leu132Gln)
c.362T>A (p.Leu121Gln)
2g.31529389G>ACA425567458SRD5A2c.616C>T (p.Leu206=)
c.394C>T (p.Leu132=)
c.361C>T (p.Leu121=)
2g.31529389G>CCA346598003SRD5A2c.616C>G (p.Leu206Val)
c.394C>G (p.Leu132Val)
c.361C>G (p.Leu121Val)
2g.31529389G>TCA346598004SRD5A2c.616C>A (p.Leu206Met)
c.394C>A (p.Leu132Met)
c.361C>A (p.Leu121Met)
2g.31529390G>ACA1599878SRD5A2c.615C>T (p.Ala205=)
c.393C>T (p.Ala131=)
c.360C>T (p.Ala120=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529390G>CCA425567459SRD5A2c.615C>G (p.Ala205=)
c.393C>G (p.Ala131=)
c.360C>G (p.Ala120=)
 dbSNP gnomAD v2 gnomAD v4
2g.31529390G=CA1242197404SRD5A2c.615C= (p.Ala205=)
c.393C= (p.Ala131=)
c.360C= (p.Ala120=)
2g.31529390G>TCA425567460SRD5A2c.615C>A (p.Ala205=)
c.393C>A (p.Ala131=)
c.360C>A (p.Ala120=)
2g.31529391G>ACA45136317SRD5A2c.614C>T (p.Ala205Val)
c.392C>T (p.Ala131Val)
c.359C>T (p.Ala120Val)
 dbSNP gnomAD v4
2g.31529391G>CCA346598005SRD5A2c.614C>G (p.Ala205Gly)
c.392C>G (p.Ala131Gly)
c.359C>G (p.Ala120Gly)
2g.31529391G=CA1242197405SRD5A2c.614C= (p.Ala205=)
c.392C= (p.Ala131=)
c.359C= (p.Ala120=)
2g.31529391G>TCA346598006SRD5A2c.614C>A (p.Ala205Asp)
c.392C>A (p.Ala131Asp)
c.359C>A (p.Ala120Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.31529392C>ACA346598007SRD5A2c.613G>T (p.Ala205Ser)
c.391G>T (p.Ala131Ser)
c.358G>T (p.Ala120Ser)
 dbSNP
2g.31529392C>GCA346598008SRD5A2c.613G>C (p.Ala205Pro)
c.391G>C (p.Ala131Pro)
c.358G>C (p.Ala120Pro)
2g.31529392C>TCA346598009SRD5A2c.613G>A (p.Ala205Thr)
c.391G>A (p.Ala131Thr)
c.358G>A (p.Ala120Thr)
2g.31529393A=CA1242197406SRD5A2c.612T= (p.Tyr204=)
c.390T= (p.Tyr130=)
c.357T= (p.Tyr119=)
2g.31529393A>CCA346598010SRD5A2c.612T>G (p.Tyr204Ter)
c.390T>G (p.Tyr130Ter)
c.357T>G (p.Tyr119Ter)
2g.31529393A>GCA425567461SRD5A2c.612T>C (p.Tyr204=)
c.390T>C (p.Tyr130=)
c.357T>C (p.Tyr119=)
 dbSNP
2g.31529393A>TCA346598011SRD5A2c.612T>A (p.Tyr204Ter)
c.390T>A (p.Tyr130Ter)
c.357T>A (p.Tyr119Ter)
2g.31529394T>ACA346598012SRD5A2c.611A>T (p.Tyr204Phe)
c.389A>T (p.Tyr130Phe)
c.356A>T (p.Tyr119Phe)
2g.31529394T>CCA346598013SRD5A2c.611A>G (p.Tyr204Cys)
c.389A>G (p.Tyr130Cys)
c.356A>G (p.Tyr119Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.31529394T>GCA346598014SRD5A2c.611A>C (p.Tyr204Ser)
c.389A>C (p.Tyr130Ser)
c.356A>C (p.Tyr119Ser)
2g.31529394T=CA1242197407SRD5A2c.611A= (p.Tyr204=)
c.389A= (p.Tyr130=)
c.356A= (p.Tyr119=)
2g.31529395A>CCA346598016SRD5A2c.610T>G (p.Tyr204Asp)
c.388T>G (p.Tyr130Asp)
c.355T>G (p.Tyr119Asp)
2g.31529395A>GCA346598017SRD5A2c.610T>C (p.Tyr204His)
c.388T>C (p.Tyr130His)
c.355T>C (p.Tyr119His)
2g.31529395A>TCA346598015SRD5A2c.610T>A (p.Tyr204Asn)
c.388T>A (p.Tyr130Asn)
c.355T>A (p.Tyr119Asn)
2g.31529396G>ACA425567462SRD5A2c.609C>T (p.Gly203=)
c.387C>T (p.Gly129=)
c.354C>T (p.Gly118=)
2g.31529396G>CCA425567463SRD5A2c.609C>G (p.Gly203=)
c.387C>G (p.Gly129=)
c.354C>G (p.Gly118=)
2g.31529396G>TCA425567464SRD5A2c.609C>A (p.Gly203=)
c.387C>A (p.Gly129=)
c.354C>A (p.Gly118=)
2g.31529397C>ACA346598018SRD5A2c.608G>T (p.Gly203Val)
c.386G>T (p.Gly129Val)
c.353G>T (p.Gly118Val)
2g.31529397C>GCA346598019SRD5A2c.608G>C (p.Gly203Ala)
c.386G>C (p.Gly129Ala)
c.353G>C (p.Gly118Ala)
2g.31529397C>TCA346598020SRD5A2c.608G>A (p.Gly203Asp)
c.386G>A (p.Gly129Asp)
c.353G>A (p.Gly118Asp)
 dbSNP
2g.31529398C>ACA346598021SRD5A2c.607G>T (p.Gly203Cys)
c.385G>T (p.Gly129Cys)
c.352G>T (p.Gly118Cys)
2g.31529398C=CA1242197408SRD5A2c.607G= (p.Gly203=)
c.385G= (p.Gly129=)
c.352G= (p.Gly118=)
2g.31529398C>GCA346598022SRD5A2c.607G>C (p.Gly203Arg)
c.385G>C (p.Gly129Arg)
c.352G>C (p.Gly118Arg)
2g.31529398C>TCA1599879SRD5A2c.607G>A (p.Gly203Ser)
c.385G>A (p.Gly129Ser)
c.352G>A (p.Gly118Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529399G>ACA1599880SRD5A2c.606C>T (p.Ile202=)
c.384C>T (p.Ile128=)
c.351C>T (p.Ile117=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529399G>CCA346598023SRD5A2c.606C>G (p.Ile202Met)
c.384C>G (p.Ile128Met)
c.351C>G (p.Ile117Met)
2g.31529399G=CA1242197409SRD5A2c.606C= (p.Ile202=)
c.384C= (p.Ile128=)
c.351C= (p.Ile117=)
2g.31529399G>TCA425567465SRD5A2c.606C>A (p.Ile202=)
c.384C>A (p.Ile128=)
c.351C>A (p.Ile117=)
 dbSNP
2g.31529400A>CCA346598024SRD5A2c.605T>G (p.Ile202Ser)
c.383T>G (p.Ile128Ser)
c.350T>G (p.Ile117Ser)
2g.31529400A>GCA346598025SRD5A2c.605T>C (p.Ile202Thr)
c.383T>C (p.Ile128Thr)
c.350T>C (p.Ile117Thr)
2g.31529400A>TCA346598026SRD5A2c.605T>A (p.Ile202Asn)
c.383T>A (p.Ile128Asn)
c.350T>A (p.Ile117Asn)
2g.31529401T>ACA346598027SRD5A2c.604A>T (p.Ile202Phe)
c.382A>T (p.Ile128Phe)
c.349A>T (p.Ile117Phe)
2g.31529401T>CCA346598028SRD5A2c.604A>G (p.Ile202Val)
c.382A>G (p.Ile128Val)
c.349A>G (p.Ile117Val)
2g.31529401T>GCA346598029SRD5A2c.604A>C (p.Ile202Leu)
c.382A>C (p.Ile128Leu)
c.349A>C (p.Ile117Leu)
2g.31529402C>ACA346598030SRD5A2c.603G>T (p.Trp201Cys)
c.381G>T (p.Trp127Cys)
c.348G>T (p.Trp116Cys)
2g.31529402C>GCA346598032SRD5A2c.603G>C (p.Trp201Cys)
c.381G>C (p.Trp127Cys)
c.348G>C (p.Trp116Cys)
2g.31529402C>TCA346598031SRD5A2c.603G>A (p.Trp201Ter)
c.381G>A (p.Trp127Ter)
c.348G>A (p.Trp116Ter)
2g.31529403C>ACA346598033SRD5A2c.602G>T (p.Trp201Leu)
c.380G>T (p.Trp127Leu)
c.347G>T (p.Trp116Leu)
2g.31529403C>GCA346598034SRD5A2c.602G>C (p.Trp201Ser)
c.380G>C (p.Trp127Ser)
c.347G>C (p.Trp116Ser)
2g.31529403C>TCA346598035SRD5A2c.602G>A (p.Trp201Ter)
c.380G>A (p.Trp127Ter)
c.347G>A (p.Trp116Ter)
 ClinVar COSMIC
2g.31529404A>CCA346598036SRD5A2c.601T>G (p.Trp201Gly)
c.379T>G (p.Trp127Gly)
c.346T>G (p.Trp116Gly)
2g.31529404A>GCA346598037SRD5A2c.601T>C (p.Trp201Arg)
c.379T>C (p.Trp127Arg)
c.346T>C (p.Trp116Arg)
 gnomAD v4
2g.31529404A>TCA346598038SRD5A2c.601T>A (p.Trp201Arg)
c.379T>A (p.Trp127Arg)
c.346T>A (p.Trp116Arg)
 ClinVar
2g.31529404_31529406delCA2658498153SRD5A2c.599_601del (p.Glu200_Trp201delinsGly)
c.377_379del (p.Glu126_Trp127delinsGly)
c.344_346del (p.Glu115_Trp116delinsGly)
 gnomAD v4
2g.31529405T>ACA346598039SRD5A2c.600A>T (p.Glu200Asp)
c.378A>T (p.Glu126Asp)
c.345A>T (p.Glu115Asp)
 dbSNP
2g.31529405T>CCA425567466SRD5A2c.600A>G (p.Glu200=)
c.378A>G (p.Glu126=)
c.345A>G (p.Glu115=)
 gnomAD v4
2g.31529405T>GCA346598040SRD5A2c.600A>C (p.Glu200Asp)
c.378A>C (p.Glu126Asp)
c.345A>C (p.Glu115Asp)
2g.31529405T=CA1242197410SRD5A2c.600A= (p.Glu200=)
c.378A= (p.Glu126=)
c.345A= (p.Glu115=)
2g.31529406T>ACA346598041SRD5A2c.599A>T (p.Glu200Val)
c.377A>T (p.Glu126Val)
c.344A>T (p.Glu115Val)
2g.31529406T>CCA346598042SRD5A2c.599A>G (p.Glu200Gly)
c.377A>G (p.Glu126Gly)
c.344A>G (p.Glu115Gly)
2g.31529406T>GCA346598043SRD5A2c.599A>C (p.Glu200Ala)
c.377A>C (p.Glu126Ala)
c.344A>C (p.Glu115Ala)
2g.31529407C>ACA346598044SRD5A2c.598G>T (p.Glu200Ter)
c.376G>T (p.Glu126Ter)
c.343G>T (p.Glu115Ter)
2g.31529407C=CA1242197411SRD5A2c.598G= (p.Glu200=)
c.376G= (p.Glu126=)
c.343G= (p.Glu115=)
2g.31529407C>GCA346598045SRD5A2c.598G>C (p.Glu200Gln)
c.376G>C (p.Glu126Gln)
c.343G>C (p.Glu115Gln)
2g.31529407C>TCA1599881SRD5A2c.598G>A (p.Glu200Lys)
c.376G>A (p.Glu126Lys)
c.343G>A (p.Glu115Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529408A>CCA346598046SRD5A2c.597T>G (p.Ile199Met)
c.375T>G (p.Ile125Met)
c.342T>G (p.Ile114Met)
 gnomAD v4
2g.31529408A>GCA425567468SRD5A2c.597T>C (p.Ile199=)
c.375T>C (p.Ile125=)
c.342T>C (p.Ile114=)
2g.31529408A>TCA425567467SRD5A2c.597T>A (p.Ile199=)
c.375T>A (p.Ile125=)
c.342T>A (p.Ile114=)
2g.31529409A=CA1242197412SRD5A2c.596T= (p.Ile199=)
c.374T= (p.Ile125=)
c.341T= (p.Ile114=)
2g.31529409A>CCA346598047SRD5A2c.596T>G (p.Ile199Ser)
c.374T>G (p.Ile125Ser)
c.341T>G (p.Ile114Ser)
2g.31529409A>GCA45136318SRD5A2c.596T>C (p.Ile199Thr)
c.374T>C (p.Ile125Thr)
c.341T>C (p.Ile114Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.31529409A>TCA1599882SRD5A2c.596T>A (p.Ile199Asn)
c.374T>A (p.Ile125Asn)
c.341T>A (p.Ile114Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529410T>ACA346598048SRD5A2c.595A>T (p.Ile199Phe)
c.373A>T (p.Ile125Phe)
c.340A>T (p.Ile114Phe)
 gnomAD v4
2g.31529410T>CCA346598049SRD5A2c.595A>G (p.Ile199Val)
c.373A>G (p.Ile125Val)
c.340A>G (p.Ile114Val)
2g.31529410T>GCA346598050SRD5A2c.595A>C (p.Ile199Leu)
c.373A>C (p.Ile125Leu)
c.340A>C (p.Ile114Leu)
2g.31529411G>ACA1599883SRD5A2c.594C>T (p.Ile198=)
c.372C>T (p.Ile124=)
c.339C>T (p.Ile113=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529411G>CCA346598051SRD5A2c.594C>G (p.Ile198Met)
c.372C>G (p.Ile124Met)
c.339C>G (p.Ile113Met)
2g.31529411G=CA1242197413SRD5A2c.594C= (p.Ile198=)
c.372C= (p.Ile124=)
c.339C= (p.Ile113=)
2g.31529411G>TCA425567469SRD5A2c.594C>A (p.Ile198=)
c.372C>A (p.Ile124=)
c.339C>A (p.Ile113=)
 gnomAD v4
2g.31529412A>CCA346598052SRD5A2c.593T>G (p.Ile198Ser)
c.371T>G (p.Ile124Ser)
c.338T>G (p.Ile113Ser)
2g.31529412A>GCA346598053SRD5A2c.593T>C (p.Ile198Thr)
c.371T>C (p.Ile124Thr)
c.338T>C (p.Ile113Thr)
2g.31529412A>TCA346598054SRD5A2c.593T>A (p.Ile198Asn)
c.371T>A (p.Ile124Asn)
c.338T>A (p.Ile113Asn)
 gnomAD v4
2g.31529413T>ACA346598055SRD5A2c.592A>T (p.Ile198Phe)
c.370A>T (p.Ile124Phe)
c.337A>T (p.Ile113Phe)
2g.31529413T>CCA346598056SRD5A2c.592A>G (p.Ile198Val)
c.370A>G (p.Ile124Val)
c.337A>G (p.Ile113Val)
2g.31529413T>GCA346598057SRD5A2c.592A>C (p.Ile198Leu)
c.370A>C (p.Ile124Leu)
c.337A>C (p.Ile113Leu)
2g.31529414C>ACA340085SRD5A2c.591G>T (p.Glu197Asp)
c.369G>T (p.Glu123Asp)
c.336G>T (p.Glu112Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529414C=CA1242197414SRD5A2c.591G= (p.Glu197=)
c.369G= (p.Glu123=)
c.336G= (p.Glu112=)
2g.31529414C>GCA346598058SRD5A2c.591G>C (p.Glu197Asp)
c.369G>C (p.Glu123Asp)
c.336G>C (p.Glu112Asp)
2g.31529414C>TCA425567470SRD5A2c.591G>A (p.Glu197=)
c.369G>A (p.Glu123=)
c.336G>A (p.Glu112=)
 gnomAD v4
2g.31529415T>ACA346598059SRD5A2c.590A>T (p.Glu197Val)
c.368A>T (p.Glu123Val)
c.335A>T (p.Glu112Val)
2g.31529415T>CCA346598061SRD5A2c.590A>G (p.Glu197Gly)
c.368A>G (p.Glu123Gly)
c.335A>G (p.Glu112Gly)
2g.31529415T>GCA346598060SRD5A2c.590A>C (p.Glu197Ala)
c.368A>C (p.Glu123Ala)
c.335A>C (p.Glu112Ala)
2g.31529416C>ACA346598062SRD5A2c.589G>T (p.Glu197Ter)
c.367G>T (p.Glu123Ter)
c.334G>T (p.Glu112Ter)
2g.31529416C=CA1242197415SRD5A2c.589G= (p.Glu197=)
c.367G= (p.Glu123=)
c.334G= (p.Glu112=)
2g.31529416C>GCA346598063SRD5A2c.589G>C (p.Glu197Gln)
c.367G>C (p.Glu123Gln)
c.334G>C (p.Glu112Gln)
2g.31529416C>TCA1599884SRD5A2c.589G>A (p.Glu197Lys)
c.367G>A (p.Glu123Lys)
c.334G>A (p.Glu112Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529417A=CA1242197416SRD5A2c.588T= (p.Gly196=)
c.366T= (p.Gly122=)
c.333T= (p.Gly111=)
2g.31529417A>CCA1599885SRD5A2c.588T>G (p.Gly196=)
c.366T>G (p.Gly122=)
c.333T>G (p.Gly111=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529417A>GCA425567471SRD5A2c.588T>C (p.Gly196=)
c.366T>C (p.Gly122=)
c.333T>C (p.Gly111=)
2g.31529417A>TCA425567472SRD5A2c.588T>A (p.Gly196=)
c.366T>A (p.Gly122=)
c.333T>A (p.Gly111=)
2g.31529417_31529418delinsACCA1242197417SRD5A2c.587_588delinsGT (p.Gly196=)
c.365_366delinsGT (p.Gly122=)
c.332_333delinsGT (p.Gly111=)
2g.31529418C>ACA346598064SRD5A2c.587G>T (p.Gly196Val)
c.365G>T (p.Gly122Val)
c.332G>T (p.Gly111Val)
2g.31529418C>GCA346598065SRD5A2c.587G>C (p.Gly196Ala)
c.365G>C (p.Gly122Ala)
c.332G>C (p.Gly111Ala)
2g.31529418C>TCA346598066SRD5A2c.587G>A (p.Gly196Asp)
c.365G>A (p.Gly122Asp)
c.332G>A (p.Gly111Asp)
 ClinVar
2g.31529419delCA1599886SRD5A2c.587del (p.Gly196ValfsTer?)
c.365del (p.Gly122ValfsTer?)
c.332del (p.Gly111ValfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529419C>ACA346598067SRD5A2c.586G>T (p.Gly196Cys)
c.364G>T (p.Gly122Cys)
c.331G>T (p.Gly111Cys)
 dbSNP
2g.31529419C=CA1242197418SRD5A2c.586G= (p.Gly196=)
c.364G= (p.Gly122=)
c.331G= (p.Gly111=)
2g.31529419C>GCA346598068SRD5A2c.586G>C (p.Gly196Arg)
c.364G>C (p.Gly122Arg)
c.331G>C (p.Gly111Arg)
 ClinVar dbSNP
2g.31529419C>TCA340079SRD5A2c.586G>A (p.Gly196Ser)
c.364G>A (p.Gly122Ser)
c.331G>A (p.Gly111Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529420G>ACA224918SRD5A2c.585C>T (p.Leu195=)
c.363C>T (p.Leu121=)
c.330C>T (p.Leu110=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529420G>CCA425567473SRD5A2c.585C>G (p.Leu195=)
c.363C>G (p.Leu121=)
c.330C>G (p.Leu110=)
 dbSNP gnomAD v3 gnomAD v4
2g.31529420G=CA1242197419SRD5A2c.585C= (p.Leu195=)
c.363C= (p.Leu121=)
c.330C= (p.Leu110=)
2g.31529420G>TCA425567474SRD5A2c.585C>A (p.Leu195=)
c.363C>A (p.Leu121=)
c.330C>A (p.Leu110=)
2g.31529421A>CCA346598071SRD5A2c.584T>G (p.Leu195Arg)
c.362T>G (p.Leu121Arg)
c.329T>G (p.Leu110Arg)
2g.31529421A>GCA346598069SRD5A2c.584T>C (p.Leu195Pro)
c.362T>C (p.Leu121Pro)
c.329T>C (p.Leu110Pro)
2g.31529421A>TCA346598070SRD5A2c.584T>A (p.Leu195His)
c.362T>A (p.Leu121His)
c.329T>A (p.Leu110His)
2g.31529422G>ACA346598072SRD5A2c.583C>T (p.Leu195Phe)
c.361C>T (p.Leu121Phe)
c.328C>T (p.Leu110Phe)
2g.31529422G>CCA346598073SRD5A2c.583C>G (p.Leu195Val)
c.361C>G (p.Leu121Val)
c.328C>G (p.Leu110Val)
2g.31529422G>TCA346598074SRD5A2c.583C>A (p.Leu195Ile)
c.361C>A (p.Leu121Ile)
c.328C>A (p.Leu110Ile)
2g.31529423G>ACA425567475SRD5A2c.582C>T (p.Phe194=)
c.360C>T (p.Phe120=)
c.327C>T (p.Phe109=)
 dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.31529423G>CCA224916SRD5A2c.582C>G (p.Phe194Leu)
c.360C>G (p.Phe120Leu)
c.327C>G (p.Phe109Leu)
 ClinVar dbSNP
2g.31529423G=CA1242197420SRD5A2c.582C= (p.Phe194=)
c.360C= (p.Phe120=)
c.327C= (p.Phe109=)
2g.31529423G>TCA346598075SRD5A2c.582C>A (p.Phe194Leu)
c.360C>A (p.Phe120Leu)
c.327C>A (p.Phe109Leu)
2g.31529424A>CCA346598076SRD5A2c.581T>G (p.Phe194Cys)
c.359T>G (p.Phe120Cys)
c.326T>G (p.Phe109Cys)
2g.31529424A>GCA346598077SRD5A2c.581T>C (p.Phe194Ser)
c.359T>C (p.Phe120Ser)
c.326T>C (p.Phe109Ser)
2g.31529424A>TCA346598078SRD5A2c.581T>A (p.Phe194Tyr)
c.359T>A (p.Phe120Tyr)
c.326T>A (p.Phe109Tyr)
2g.31529425A=CA1242197421SRD5A2c.580T= (p.Phe194=)
c.358T= (p.Phe120=)
c.325T= (p.Phe109=)
2g.31529425A>CCA346598079SRD5A2c.580T>G (p.Phe194Val)
c.358T>G (p.Phe120Val)
c.325T>G (p.Phe109Val)
2g.31529425A>GCA346598080SRD5A2c.580T>C (p.Phe194Leu)
c.358T>C (p.Phe120Leu)
c.325T>C (p.Phe109Leu)
2g.31529425A>TCA1599887SRD5A2c.580T>A (p.Phe194Ile)
c.358T>A (p.Phe120Ile)
c.325T>A (p.Phe109Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529426A>CCA346598082SRD5A2c.579T>G (p.Asn193Lys)
c.357T>G (p.Asn119Lys)
c.324T>G (p.Asn108Lys)
2g.31529426A>GCA425567476SRD5A2c.579T>C (p.Asn193=)
c.357T>C (p.Asn119=)
c.324T>C (p.Asn108=)
2g.31529426A>TCA346598081SRD5A2c.579T>A (p.Asn193Lys)
c.357T>A (p.Asn119Lys)
c.324T>A (p.Asn108Lys)
2g.31529427T>ACA346598083SRD5A2c.578A>T (p.Asn193Ile)
c.356A>T (p.Asn119Ile)
c.323A>T (p.Asn108Ile)
 gnomAD v4
2g.31529427T>CCA1599888SRD5A2c.578A>G (p.Asn193Ser)
c.356A>G (p.Asn119Ser)
c.323A>G (p.Asn108Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529427T>GCA346598084SRD5A2c.578A>C (p.Asn193Thr)
c.356A>C (p.Asn119Thr)
c.323A>C (p.Asn108Thr)
2g.31529427T=CA1242197422SRD5A2c.578A= (p.Asn193=)
c.356A= (p.Asn119=)
c.323A= (p.Asn108=)
2g.31529428T>ACA346598085SRD5A2c.577A>T (p.Asn193Tyr)
c.355A>T (p.Asn119Tyr)
c.322A>T (p.Asn108Tyr)
2g.31529428T>CCA346598086SRD5A2c.577A>G (p.Asn193Asp)
c.355A>G (p.Asn119Asp)
c.322A>G (p.Asn108Asp)
 COSMIC
2g.31529428T>GCA346598087SRD5A2c.577A>C (p.Asn193His)
c.355A>C (p.Asn119His)
c.322A>C (p.Asn108His)
2g.31529429G>ACA425567477SRD5A2c.576C>T (p.Ala192=)
c.354C>T (p.Ala118=)
c.321C>T (p.Ala107=)
2g.31529429G>CCA425567478SRD5A2c.576C>G (p.Ala192=)
c.354C>G (p.Ala118=)
c.321C>G (p.Ala107=)
2g.31529429G>TCA425567479SRD5A2c.576C>A (p.Ala192=)
c.354C>A (p.Ala118=)
c.321C>A (p.Ala107=)
2g.31529430G>ACA45136319SRD5A2c.575C>T (p.Ala192Val)
c.353C>T (p.Ala118Val)
c.320C>T (p.Ala107Val)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.31529430G>CCA346598088SRD5A2c.575C>G (p.Ala192Gly)
c.353C>G (p.Ala118Gly)
c.320C>G (p.Ala107Gly)
2g.31529430G=CA1242197423SRD5A2c.575C= (p.Ala192=)
c.353C= (p.Ala118=)
c.320C= (p.Ala107=)
2g.31529430G>TCA346598089SRD5A2c.575C>A (p.Ala192Asp)
c.353C>A (p.Ala118Asp)
c.320C>A (p.Ala107Asp)
2g.31529431C>ACA346598090SRD5A2c.574G>T (p.Ala192Ser)
c.352G>T (p.Ala118Ser)
c.319G>T (p.Ala107Ser)
2g.31529431C>GCA346598091SRD5A2c.574G>C (p.Ala192Pro)
c.352G>C (p.Ala118Pro)
c.319G>C (p.Ala107Pro)
2g.31529431C>TCA346598092SRD5A2c.574G>A (p.Ala192Thr)
c.352G>A (p.Ala118Thr)
c.319G>A (p.Ala107Thr)
 ClinVar gnomAD v4
2g.31529432T>ACA425567480SRD5A2c.573A>T (p.Gly191=)
c.351A>T (p.Gly117=)
c.318A>T (p.Gly106=)
2g.31529432T>CCA1599889SRD5A2c.573A>G (p.Gly191=)
c.351A>G (p.Gly117=)
c.318A>G (p.Gly106=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529432T>GCA425567481SRD5A2c.573A>C (p.Gly191=)
c.351A>C (p.Gly117=)
c.318A>C (p.Gly106=)
2g.31529432T=CA1242197424SRD5A2c.573A= (p.Gly191=)
c.351A= (p.Gly117=)
c.318A= (p.Gly106=)
2g.31529433C>ACA346598095SRD5A2c.572G>T (p.Gly191Val)
c.350G>T (p.Gly117Val)
c.317G>T (p.Gly106Val)
2g.31529433C>GCA346598094SRD5A2c.572G>C (p.Gly191Ala)
c.350G>C (p.Gly117Ala)
c.317G>C (p.Gly106Ala)
2g.31529433C>TCA346598093SRD5A2c.572G>A (p.Gly191Glu)
c.350G>A (p.Gly117Glu)
c.317G>A (p.Gly106Glu)
 COSMIC
2g.31529434C>ACA346598096SRD5A2c.571G>T (p.Gly191Ter)
c.349G>T (p.Gly117Ter)
c.316G>T (p.Gly106Ter)
2g.31529434C>GCA346598098SRD5A2c.571G>C (p.Gly191Arg)
c.349G>C (p.Gly117Arg)
c.316G>C (p.Gly106Arg)
2g.31529434C>TCA346598097SRD5A2c.571G>A (p.Gly191Arg)
c.349G>A (p.Gly117Arg)
c.316G>A (p.Gly106Arg)
 ClinVar COSMIC
2g.31529435A=CA1242197425SRD5A2c.570T= (p.Ser190=)
c.348T= (p.Ser116=)
c.315T= (p.Ser105=)
2g.31529435A>CCA425567482SRD5A2c.570T>G (p.Ser190=)
c.348T>G (p.Ser116=)
c.315T>G (p.Ser105=)
2g.31529435A>GCA425567483SRD5A2c.570T>C (p.Ser190=)
c.348T>C (p.Ser116=)
c.315T>C (p.Ser105=)
 dbSNP gnomAD v3 gnomAD v4
2g.31529435A>TCA425567484SRD5A2c.570T>A (p.Ser190=)
c.348T>A (p.Ser116=)
c.315T>A (p.Ser105=)
2g.31529436G>ACA346598099SRD5A2c.569C>T (p.Ser190Phe)
c.347C>T (p.Ser116Phe)
c.314C>T (p.Ser105Phe)
 gnomAD v4
2g.31529436G>CCA346598100SRD5A2c.569C>G (p.Ser190Cys)
c.347C>G (p.Ser116Cys)
c.314C>G (p.Ser105Cys)
2g.31529436G>TCA346598101SRD5A2c.569C>A (p.Ser190Tyr)
c.347C>A (p.Ser116Tyr)
c.314C>A (p.Ser105Tyr)
2g.31529437A>CCA346598102SRD5A2c.568T>G (p.Ser190Ala)
c.346T>G (p.Ser116Ala)
c.313T>G (p.Ser105Ala)
2g.31529437A>GCA346598103SRD5A2c.568T>C (p.Ser190Pro)
c.346T>C (p.Ser116Pro)
c.313T>C (p.Ser105Pro)
2g.31529437A>TCA346598104SRD5A2c.568T>A (p.Ser190Thr)
c.346T>A (p.Ser116Thr)
c.313T>A (p.Ser105Thr)
2g.31529437_31529452delinsGTCA2586969026SRD5A2c.553_568delinsAC (p.Leu185ThrfsTer8)
c.331_346delinsAC (p.Leu111ThrfsTer8)
c.298_313delinsAC (p.Leu100ThrfsTer8)
2g.31529438A>CCA425567485SRD5A2c.567T>G (p.Val189=)
c.345T>G (p.Val115=)
c.312T>G (p.Val104=)
2g.31529438A>GCA425567486SRD5A2c.567T>C (p.Val189=)
c.345T>C (p.Val115=)
c.312T>C (p.Val104=)
2g.31529438A>TCA425567487SRD5A2c.567T>A (p.Val189=)
c.345T>A (p.Val115=)
c.312T>A (p.Val104=)
2g.31529439A=CA1242197426SRD5A2c.566T= (p.Val189=)
c.344T= (p.Val115=)
c.311T= (p.Val104=)
2g.31529439A>CCA346598105SRD5A2c.566T>G (p.Val189Gly)
c.344T>G (p.Val115Gly)
c.311T>G (p.Val104Gly)
2g.31529439A>GCA346598106SRD5A2c.566T>C (p.Val189Ala)
c.344T>C (p.Val115Ala)
c.311T>C (p.Val104Ala)
 dbSNP gnomAD v4
2g.31529439A>TCA346598107SRD5A2c.566T>A (p.Val189Asp)
c.344T>A (p.Val115Asp)
c.311T>A (p.Val104Asp)
2g.31529440C>ACA346598108SRD5A2c.565G>T (p.Val189Phe)
c.343G>T (p.Val115Phe)
c.310G>T (p.Val104Phe)
2g.31529440C=CA1242197427SRD5A2c.565G= (p.Val189=)
c.343G= (p.Val115=)
c.310G= (p.Val104=)
2g.31529440C>GCA346598109SRD5A2c.565G>C (p.Val189Leu)
c.343G>C (p.Val115Leu)
c.310G>C (p.Val104Leu)
2g.31529440C>TCA1599890SRD5A2c.565G>A (p.Val189Ile)
c.343G>A (p.Val115Ile)
c.310G>A (p.Val104Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529441delCA2697547973SRD5A2c.564del (p.Tyr188Ter)
c.342del (p.Tyr114Ter)
c.309del (p.Tyr103Ter)
 ClinVar
2g.31529441A>CCA346598111SRD5A2c.564T>G (p.Tyr188Ter)
c.342T>G (p.Tyr114Ter)
c.309T>G (p.Tyr103Ter)
2g.31529441A>GCA425567488SRD5A2c.564T>C (p.Tyr188=)
c.342T>C (p.Tyr114=)
c.309T>C (p.Tyr103=)
2g.31529441A>TCA346598110SRD5A2c.564T>A (p.Tyr188Ter)
c.342T>A (p.Tyr114Ter)
c.309T>A (p.Tyr103Ter)
2g.31529442_31529443delCA2586969027SRD5A2c.563_564del (p.Tyr188CysfsTer9)
c.341_342del (p.Tyr114CysfsTer9)
c.308_309del (p.Tyr103CysfsTer9)
 gnomAD v4
2g.31529442T>ACA346598112SRD5A2c.563A>T (p.Tyr188Phe)
c.341A>T (p.Tyr114Phe)
c.308A>T (p.Tyr103Phe)
2g.31529442T>CCA346598113SRD5A2c.563A>G (p.Tyr188Cys)
c.341A>G (p.Tyr114Cys)
c.308A>G (p.Tyr103Cys)
2g.31529442T>GCA346598114SRD5A2c.563A>C (p.Tyr188Ser)
c.341A>C (p.Tyr114Ser)
c.308A>C (p.Tyr103Ser)
2g.31529443A>CCA346598115SRD5A2c.562T>G (p.Tyr188Asp)
c.340T>G (p.Tyr114Asp)
c.307T>G (p.Tyr103Asp)
2g.31529443A>GCA346598116SRD5A2c.562T>C (p.Tyr188His)
c.340T>C (p.Tyr114His)
c.307T>C (p.Tyr103His)
 gnomAD v4
2g.31529443A>TCA346598117SRD5A2c.562T>A (p.Tyr188Asn)
c.340T>A (p.Tyr114Asn)
c.307T>A (p.Tyr103Asn)
2g.31529443_31529444delinsACCA1242197428SRD5A2c.561_562delinsGT (p.Thr187=)
c.339_340delinsGT (p.Thr113=)
c.306_307delinsGT (p.Thr102=)
2g.31529444delCA1028962798SRD5A2c.561del (p.Tyr188MetfsTer?)
c.339del (p.Tyr114MetfsTer?)
c.306del (p.Tyr103MetfsTer?)
 dbSNP gnomAD v3 gnomAD v4
2g.31529444C>ACA425567489SRD5A2c.561G>T (p.Thr187=)
c.339G>T (p.Thr113=)
c.306G>T (p.Thr102=)
 gnomAD v4
2g.31529444C=CA1242197429SRD5A2c.561G= (p.Thr187=)
c.339G= (p.Thr113=)
c.306G= (p.Thr102=)
2g.31529444C>GCA45136320SRD5A2c.561G>C (p.Thr187=)
c.339G>C (p.Thr113=)
c.306G>C (p.Thr102=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31529444C>TCA1599891SRD5A2c.561G>A (p.Thr187=)
c.339G>A (p.Thr113=)
c.306G>A (p.Thr102=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529445G>ACA224914SRD5A2c.560C>T (p.Thr187Met)
c.338C>T (p.Thr113Met)
c.305C>T (p.Thr102Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.31529445G>CCA346598118SRD5A2c.560C>G (p.Thr187Arg)
c.338C>G (p.Thr113Arg)
c.305C>G (p.Thr102Arg)
2g.31529445G=CA1242197430SRD5A2c.560C= (p.Thr187=)
c.338C= (p.Thr113=)
c.305C= (p.Thr102=)
2g.31529445G>TCA346598119SRD5A2c.560C>A (p.Thr187Lys)
c.338C>A (p.Thr113Lys)
c.305C>A (p.Thr102Lys)
2g.31529446T>ACA346598120SRD5A2c.559A>T (p.Thr187Ser)
c.337A>T (p.Thr113Ser)
c.304A>T (p.Thr102Ser)
2g.31529446T>CCA346598121SRD5A2c.559A>G (p.Thr187Ala)
c.337A>G (p.Thr113Ala)
c.304A>G (p.Thr102Ala)
2g.31529446T>GCA346598122SRD5A2c.559A>C (p.Thr187Pro)
c.337A>C (p.Thr113Pro)
c.304A>C (p.Thr102Pro)
2g.31529447A>CCA346598123SRD5A2c.558T>G (p.Phe186Leu)
c.336T>G (p.Phe112Leu)
c.303T>G (p.Phe101Leu)
2g.31529447A>GCA425567490SRD5A2c.558T>C (p.Phe186=)
c.336T>C (p.Phe112=)
c.303T>C (p.Phe101=)
2g.31529447A>TCA346598124SRD5A2c.558T>A (p.Phe186Leu)
c.336T>A (p.Phe112Leu)
c.303T>A (p.Phe101Leu)
 COSMIC
2g.31529448A>CCA346598125SRD5A2c.557T>G (p.Phe186Cys)
c.335T>G (p.Phe112Cys)
c.302T>G (p.Phe101Cys)
2g.31529448A>GCA346598126SRD5A2c.557T>C (p.Phe186Ser)
c.335T>C (p.Phe112Ser)
c.302T>C (p.Phe101Ser)
 COSMIC
2g.31529448A>TCA346598127SRD5A2c.557T>A (p.Phe186Tyr)
c.335T>A (p.Phe112Tyr)
c.302T>A (p.Phe101Tyr)
2g.31529449A>CCA346598128SRD5A2c.556T>G (p.Phe186Val)
c.334T>G (p.Phe112Val)
c.301T>G (p.Phe101Val)
2g.31529449A>GCA346598129SRD5A2c.556T>C (p.Phe186Leu)
c.334T>C (p.Phe112Leu)
c.301T>C (p.Phe101Leu)
2g.31529449A>TCA346598130SRD5A2c.556T>A (p.Phe186Ile)
c.334T>A (p.Phe112Ile)
c.301T>A (p.Phe101Ile)
2g.31529450C>ACA346598131SRD5A2c.555G>T (p.Leu185Phe)
c.333G>T (p.Leu111Phe)
c.300G>T (p.Leu100Phe)
2g.31529450C>GCA346598132SRD5A2c.555G>C (p.Leu185Phe)
c.333G>C (p.Leu111Phe)
c.300G>C (p.Leu100Phe)
2g.31529450C>TCA425567491SRD5A2c.555G>A (p.Leu185=)
c.333G>A (p.Leu111=)
c.300G>A (p.Leu100=)
2g.31529451A=CA1242197431SRD5A2c.554T= (p.Leu185=)
c.332T= (p.Leu111=)
c.299T= (p.Leu100=)
2g.31529451A>CCA346598133SRD5A2c.554T>G (p.Leu185Trp)
c.332T>G (p.Leu111Trp)
c.299T>G (p.Leu100Trp)
2g.31529451A>GCA1599892SRD5A2c.554T>C (p.Leu185Ser)
c.332T>C (p.Leu111Ser)
c.299T>C (p.Leu100Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529451A>TCA346598134SRD5A2c.554T>A (p.Leu185Ter)
c.332T>A (p.Leu111Ter)
c.299T>A (p.Leu100Ter)

Number of alleles fetched