Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.31529347A>CCA346597920SRD5A2c.658T>G (p.Ser220Ala)
c.436T>G (p.Ser146Ala)
c.403T>G (p.Ser135Ala)
2g.31529347A>GCA346597921SRD5A2c.658T>C (p.Ser220Pro)
c.436T>C (p.Ser146Pro)
c.403T>C (p.Ser135Pro)
2g.31529347A>TCA346597922SRD5A2c.658T>A (p.Ser220Thr)
c.436T>A (p.Ser146Thr)
c.403T>A (p.Ser135Thr)
2g.31529348G>ACA425567428SRD5A2c.657C>T (p.Phe219=)
c.435C>T (p.Phe145=)
c.402C>T (p.Phe134=)
2g.31529348G>CCA346597923SRD5A2c.657C>G (p.Phe219Leu)
c.435C>G (p.Phe145Leu)
c.402C>G (p.Phe134Leu)
2g.31529348G>TCA346597924SRD5A2c.657C>A (p.Phe219Leu)
c.435C>A (p.Phe145Leu)
c.402C>A (p.Phe134Leu)
2g.31529348_31529349delinsGACA1242197382SRD5A2c.656_657delinsTC (p.Phe219=)
c.434_435delinsTC (p.Phe145=)
c.401_402delinsTC (p.Phe134=)
2g.31529349A>CCA346597925SRD5A2c.656T>G (p.Phe219Cys)
c.434T>G (p.Phe145Cys)
c.401T>G (p.Phe134Cys)
2g.31529349A>GCA346597926SRD5A2c.656T>C (p.Phe219Ser)
c.434T>C (p.Phe145Ser)
c.401T>C (p.Phe134Ser)
2g.31529349A>TCA346597927SRD5A2c.656T>A (p.Phe219Tyr)
c.434T>A (p.Phe145Tyr)
c.401T>A (p.Phe134Tyr)
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.31529350A=CA1242197383SRD5A2c.655T= (p.Phe219=)
c.433T= (p.Phe145=)
c.400T= (p.Phe134=)
2g.31529350A>CCA45136312SRD5A2c.655T>G (p.Phe219Val)
c.433T>G (p.Phe145Val)
c.400T>G (p.Phe134Val)
 dbSNP gnomAD v4
2g.31529350A>GCA346597928SRD5A2c.655T>C (p.Phe219Leu)
c.433T>C (p.Phe145Leu)
c.400T>C (p.Phe134Leu)
2g.31529350A>TCA346597929SRD5A2c.655T>A (p.Phe219Ile)
c.433T>A (p.Phe145Ile)
c.400T>A (p.Phe134Ile)
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

Number of alleles fetched