Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.31529323C>A | CA346597877 | SRD5A2 | c.682G>T (p.Ala228Ser) c.460G>T (p.Ala154Ser) c.427G>T (p.Ala143Ser) | |
2 | g.31529323C= | CA1242197372 | SRD5A2 | c.682G= (p.Ala228=) c.460G= (p.Ala154=) c.427G= (p.Ala143=) | |
2 | g.31529323C>G | CA1599869 | SRD5A2 | c.682G>C (p.Ala228Pro) c.460G>C (p.Ala154Pro) c.427G>C (p.Ala143Pro) | dbSNP ExAC gnomAD v2 |
2 | g.31529323C>T | CA340077 | SRD5A2 | c.682G>A (p.Ala228Thr) c.460G>A (p.Ala154Thr) c.427G>A (p.Ala143Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.31529324T>A | CA425567402 | SRD5A2 | c.681A>T (p.Arg227=) c.459A>T (p.Arg153=) c.426A>T (p.Arg142=) | |
2 | g.31529324T>C | CA425567401 | SRD5A2 | c.681A>G (p.Arg227=) c.459A>G (p.Arg153=) c.426A>G (p.Arg142=) | gnomAD v4 |
2 | g.31529324T>G | CA425567400 | SRD5A2 | c.681A>C (p.Arg227=) c.459A>C (p.Arg153=) c.426A>C (p.Arg142=) | |
2 | g.31529324T= | CA2497028759 | SRD5A2 | c.681A= (p.Arg227=) c.459A= (p.Arg153=) c.426A= (p.Arg142=) | |
2 | g.31529325C>A | CA346597878 | SRD5A2 | c.680G>T (p.Arg227Leu) c.458G>T (p.Arg153Leu) c.425G>T (p.Arg142Leu) | |
2 | g.31529325C= | CA1242197373 | SRD5A2 | c.680G= (p.Arg227=) c.458G= (p.Arg153=) c.425G= (p.Arg142=) | |
2 | g.31529325C>G | CA346597879 | SRD5A2 | c.680G>C (p.Arg227Pro) c.458G>C (p.Arg153Pro) c.425G>C (p.Arg142Pro) | |
2 | g.31529325C>T | CA116158 | SRD5A2 | c.680G>A (p.Arg227Gln) c.458G>A (p.Arg153Gln) c.425G>A (p.Arg142Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529326G>A | CA340074 | SRD5A2 | c.679C>T (p.Arg227Ter) c.457C>T (p.Arg153Ter) c.424C>T (p.Arg142Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.31529326G>C | CA346597880 | SRD5A2 | c.679C>G (p.Arg227Gly) c.457C>G (p.Arg153Gly) c.424C>G (p.Arg142Gly) | gnomAD v4 |
2 | g.31529326G= | CA1242197374 | SRD5A2 | c.679C= (p.Arg227=) c.457C= (p.Arg153=) c.424C= (p.Arg142=) | |
2 | g.31529326G>T | CA425567403 | SRD5A2 | c.679C>A (p.Arg227=) c.457C>A (p.Arg153=) c.424C>A (p.Arg142=) | |
2 | g.31529327C>A | CA425567406 | SRD5A2 | c.678G>T (p.Leu226=) c.456G>T (p.Leu152=) c.423G>T (p.Leu141=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529327C= | CA1242197375 | SRD5A2 | c.678G= (p.Leu226=) c.456G= (p.Leu152=) c.423G= (p.Leu141=) | |
2 | g.31529327C>G | CA425567405 | SRD5A2 | c.678G>C (p.Leu226=) c.456G>C (p.Leu152=) c.423G>C (p.Leu141=) | |
2 | g.31529327C>T | CA425567404 | SRD5A2 | c.678G>A (p.Leu226=) c.456G>A (p.Leu152=) c.423G>A (p.Leu141=) | |
2 | g.31529328A= | CA1242197376 | SRD5A2 | c.677T= (p.Leu226=) c.455T= (p.Leu152=) c.422T= (p.Leu141=) | |
2 | g.31529328A>C | CA346597881 | SRD5A2 | c.677T>G (p.Leu226Arg) c.455T>G (p.Leu152Arg) c.422T>G (p.Leu141Arg) | |
2 | g.31529328A>G | CA346597882 | SRD5A2 | c.677T>C (p.Leu226Pro) c.455T>C (p.Leu152Pro) c.422T>C (p.Leu141Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31529328A>T | CA346597883 | SRD5A2 | c.677T>A (p.Leu226Gln) c.455T>A (p.Leu152Gln) c.422T>A (p.Leu141Gln) | |
2 | g.31529329G>A | CA425567407 | SRD5A2 | c.676C>T (p.Leu226=) c.454C>T (p.Leu152=) c.421C>T (p.Leu141=) | COSMIC |
2 | g.31529329G>C | CA346597884 | SRD5A2 | c.676C>G (p.Leu226Val) c.454C>G (p.Leu152Val) c.421C>G (p.Leu141Val) | |
2 | g.31529329G>T | CA346597885 | SRD5A2 | c.676C>A (p.Leu226Met) c.454C>A (p.Leu152Met) c.421C>A (p.Leu141Met) | |
2 | g.31529330C>A | CA425567408 | SRD5A2 | c.675G>T (p.Gly225=) c.453G>T (p.Gly151=) c.420G>T (p.Gly140=) | |
2 | g.31529330C>G | CA425567410 | SRD5A2 | c.675G>C (p.Gly225=) c.453G>C (p.Gly151=) c.420G>C (p.Gly140=) | |
2 | g.31529330C>T | CA425567409 | SRD5A2 | c.675G>A (p.Gly225=) c.453G>A (p.Gly151=) c.420G>A (p.Gly140=) | gnomAD v4 |
2 | g.31529331C>A | CA346597886 | SRD5A2 | c.674G>T (p.Gly225Val) c.452G>T (p.Gly151Val) c.419G>T (p.Gly140Val) | |
2 | g.31529331C>G | CA346597887 | SRD5A2 | c.674G>C (p.Gly225Ala) c.452G>C (p.Gly151Ala) c.419G>C (p.Gly140Ala) | |
2 | g.31529331C>T | CA346597888 | SRD5A2 | c.674G>A (p.Gly225Glu) c.452G>A (p.Gly151Glu) c.419G>A (p.Gly140Glu) | |
2 | g.31529332C>A | CA346597889 | SRD5A2 | c.673G>T (p.Gly225Trp) c.451G>T (p.Gly151Trp) c.418G>T (p.Gly140Trp) | |
2 | g.31529332C>G | CA346597890 | SRD5A2 | c.673G>C (p.Gly225Arg) c.451G>C (p.Gly151Arg) c.418G>C (p.Gly140Arg) | |
2 | g.31529332C>T | CA346597891 | SRD5A2 | c.673G>A (p.Gly225Arg) c.451G>A (p.Gly151Arg) c.418G>A (p.Gly140Arg) | |
2 | g.31529333A>C | CA425567411 | SRD5A2 | c.672T>G (p.Leu224=) c.450T>G (p.Leu150=) c.417T>G (p.Leu139=) | |
2 | g.31529333A>G | CA425567412 | SRD5A2 | c.672T>C (p.Leu224=) c.450T>C (p.Leu150=) c.417T>C (p.Leu139=) | dbSNP |
2 | g.31529333A>T | CA425567413 | SRD5A2 | c.672T>A (p.Leu224=) c.450T>A (p.Leu150=) c.417T>A (p.Leu139=) | |
2 | g.31529334A= | CA1242197377 | SRD5A2 | c.671T= (p.Leu224=) c.449T= (p.Leu150=) c.416T= (p.Leu139=) | |
2 | g.31529334A>C | CA346597892 | SRD5A2 | c.671T>G (p.Leu224Arg) c.449T>G (p.Leu150Arg) c.416T>G (p.Leu139Arg) | |
2 | g.31529334A>G | CA346597893 | SRD5A2 | c.671T>C (p.Leu224Pro) c.449T>C (p.Leu150Pro) c.416T>C (p.Leu139Pro) | |
2 | g.31529334A>T | CA45136310 | SRD5A2 | c.671T>A (p.Leu224His) c.449T>A (p.Leu150His) c.416T>A (p.Leu139His) | dbSNP |
2 | g.31529335G>A | CA346597894 | SRD5A2 | c.670C>T (p.Leu224Phe) c.448C>T (p.Leu150Phe) c.415C>T (p.Leu139Phe) | |
2 | g.31529335G>C | CA1599870 | SRD5A2 | c.670C>G (p.Leu224Val) c.448C>G (p.Leu150Val) c.415C>G (p.Leu139Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529335G= | CA1242197378 | SRD5A2 | c.670C= (p.Leu224=) c.448C= (p.Leu150=) c.415C= (p.Leu139=) | |
2 | g.31529335G>T | CA45136311 | SRD5A2 | c.670C>A (p.Leu224Ile) c.448C>A (p.Leu150Ile) c.415C>A (p.Leu139Ile) | dbSNP gnomAD v4 |
2 | g.31529336G>A | CA425567414 | SRD5A2 | c.669C>T (p.Phe223=) c.447C>T (p.Phe149=) c.414C>T (p.Phe138=) | COSMIC COSMIC COSMIC |
2 | g.31529336G>C | CA346597895 | SRD5A2 | c.669C>G (p.Phe223Leu) c.447C>G (p.Phe149Leu) c.414C>G (p.Phe138Leu) | ClinVar |
2 | g.31529336G>T | CA346597896 | SRD5A2 | c.669C>A (p.Phe223Leu) c.447C>A (p.Phe149Leu) c.414C>A (p.Phe138Leu) | gnomAD v4 |
2 | g.31529337A>C | CA346597899 | SRD5A2 | c.668T>G (p.Phe223Cys) c.446T>G (p.Phe149Cys) c.413T>G (p.Phe138Cys) | |
2 | g.31529337A>G | CA346597897 | SRD5A2 | c.668T>C (p.Phe223Ser) c.446T>C (p.Phe149Ser) c.413T>C (p.Phe138Ser) | |
2 | g.31529337A>T | CA346597898 | SRD5A2 | c.668T>A (p.Phe223Tyr) c.446T>A (p.Phe149Tyr) c.413T>A (p.Phe138Tyr) | |
2 | g.31529338A= | CA1242197379 | SRD5A2 | c.667T= (p.Phe223=) c.445T= (p.Phe149=) c.412T= (p.Phe138=) | |
2 | g.31529338A>C | CA346597900 | SRD5A2 | c.667T>G (p.Phe223Val) c.445T>G (p.Phe149Val) c.412T>G (p.Phe138Val) | |
2 | g.31529338A>G | CA346597901 | SRD5A2 | c.667T>C (p.Phe223Leu) c.445T>C (p.Phe149Leu) c.412T>C (p.Phe138Leu) | |
2 | g.31529338A>T | CA346597902 | SRD5A2 | c.667T>A (p.Phe223Ile) c.445T>A (p.Phe149Ile) c.412T>A (p.Phe138Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31529339A= | CA1242197380 | SRD5A2 | c.666T= (p.Cys222=) c.444T= (p.Cys148=) c.411T= (p.Cys137=) | |
2 | g.31529339A>C | CA346597903 | SRD5A2 | c.666T>G (p.Cys222Trp) c.444T>G (p.Cys148Trp) c.411T>G (p.Cys137Trp) | |
2 | g.31529339A>G | CA425567415 | SRD5A2 | c.666T>C (p.Cys222=) c.444T>C (p.Cys148=) c.411T>C (p.Cys137=) | COSMIC COSMIC |
2 | g.31529339A>T | CA346597904 | SRD5A2 | c.666T>A (p.Cys222Ter) c.444T>A (p.Cys148Ter) c.411T>A (p.Cys137Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31529340C>A | CA346597907 | SRD5A2 | c.665G>T (p.Cys222Phe) c.443G>T (p.Cys148Phe) c.410G>T (p.Cys137Phe) | dbSNP |
2 | g.31529340C>G | CA346597906 | SRD5A2 | c.665G>C (p.Cys222Ser) c.443G>C (p.Cys148Ser) c.410G>C (p.Cys137Ser) | |
2 | g.31529340C>T | CA346597905 | SRD5A2 | c.665G>A (p.Cys222Tyr) c.443G>A (p.Cys148Tyr) c.410G>A (p.Cys137Tyr) | gnomAD v4 |
2 | g.31529341A>C | CA346597908 | SRD5A2 | c.664T>G (p.Cys222Gly) c.442T>G (p.Cys148Gly) c.409T>G (p.Cys137Gly) | |
2 | g.31529341A>G | CA346597910 | SRD5A2 | c.664T>C (p.Cys222Arg) c.442T>C (p.Cys148Arg) c.409T>C (p.Cys137Arg) | |
2 | g.31529341A>T | CA346597909 | SRD5A2 | c.664T>A (p.Cys222Ser) c.442T>A (p.Cys148Ser) c.409T>A (p.Cys137Ser) | gnomAD v4 |
2 | g.31529342_31529343del | CA2586969022 | SRD5A2 | c.663_664del (p.Cys222PhefsTer11) c.441_442del (p.Cys148PhefsTer11) c.408_409del (p.Cys137PhefsTer11) | |
2 | g.31529342A>C | CA425567416 | SRD5A2 | c.663T>G (p.Leu221=) c.441T>G (p.Leu147=) c.408T>G (p.Leu136=) | |
2 | g.31529342A>G | CA425567417 | SRD5A2 | c.663T>C (p.Leu221=) c.441T>C (p.Leu147=) c.408T>C (p.Leu136=) | |
2 | g.31529342A>T | CA425567418 | SRD5A2 | c.663T>A (p.Leu221=) c.441T>A (p.Leu147=) c.408T>A (p.Leu136=) | |
2 | g.31529343A= | CA1242197381 | SRD5A2 | c.662T= (p.Leu221=) c.440T= (p.Leu147=) c.407T= (p.Leu136=) | |
2 | g.31529343A>C | CA346597911 | SRD5A2 | c.662T>G (p.Leu221Arg) c.440T>G (p.Leu147Arg) c.407T>G (p.Leu136Arg) | |
2 | g.31529343A>G | CA346597912 | SRD5A2 | c.662T>C (p.Leu221Pro) c.440T>C (p.Leu147Pro) c.407T>C (p.Leu136Pro) | dbSNP |
2 | g.31529343A>T | CA346597913 | SRD5A2 | c.662T>A (p.Leu221His) c.440T>A (p.Leu147His) c.407T>A (p.Leu136His) | |
2 | g.31529344G>A | CA346597914 | SRD5A2 | c.661C>T (p.Leu221Phe) c.439C>T (p.Leu147Phe) c.406C>T (p.Leu136Phe) | COSMIC |
2 | g.31529344G>C | CA346597915 | SRD5A2 | c.661C>G (p.Leu221Val) c.439C>G (p.Leu147Val) c.406C>G (p.Leu136Val) | |
2 | g.31529344G>T | CA346597916 | SRD5A2 | c.661C>A (p.Leu221Ile) c.439C>A (p.Leu147Ile) c.406C>A (p.Leu136Ile) | |
2 | g.31529345T>A | CA425567420 | SRD5A2 | c.660A>T (p.Ser220=) c.438A>T (p.Ser146=) c.405A>T (p.Ser135=) | |
2 | g.31529345T>C | CA425567421 | SRD5A2 | c.660A>G (p.Ser220=) c.438A>G (p.Ser146=) c.405A>G (p.Ser135=) | |
2 | g.31529345T>G | CA425567419 | SRD5A2 | c.660A>C (p.Ser220=) c.438A>C (p.Ser146=) c.405A>C (p.Ser135=) | |
2 | g.31529346G>A | CA346597917 | SRD5A2 | c.659C>T (p.Ser220Leu) c.437C>T (p.Ser146Leu) c.404C>T (p.Ser135Leu) | |
2 | g.31529346G>C | CA346597918 | SRD5A2 | c.659C>G (p.Ser220Ter) c.437C>G (p.Ser146Ter) c.404C>G (p.Ser135Ter) | |
2 | g.31529346G>T | CA346597919 | SRD5A2 | c.659C>A (p.Ser220Ter) c.437C>A (p.Ser146Ter) c.404C>A (p.Ser135Ter) | |
2 | g.31529347A>C | CA346597920 | SRD5A2 | c.658T>G (p.Ser220Ala) c.436T>G (p.Ser146Ala) c.403T>G (p.Ser135Ala) | |
2 | g.31529347A>G | CA346597921 | SRD5A2 | c.658T>C (p.Ser220Pro) c.436T>C (p.Ser146Pro) c.403T>C (p.Ser135Pro) | |
2 | g.31529347A>T | CA346597922 | SRD5A2 | c.658T>A (p.Ser220Thr) c.436T>A (p.Ser146Thr) c.403T>A (p.Ser135Thr) | |
2 | g.31529348G>A | CA425567428 | SRD5A2 | c.657C>T (p.Phe219=) c.435C>T (p.Phe145=) c.402C>T (p.Phe134=) | |
2 | g.31529348G>C | CA346597923 | SRD5A2 | c.657C>G (p.Phe219Leu) c.435C>G (p.Phe145Leu) c.402C>G (p.Phe134Leu) | |
2 | g.31529348G>T | CA346597924 | SRD5A2 | c.657C>A (p.Phe219Leu) c.435C>A (p.Phe145Leu) c.402C>A (p.Phe134Leu) | |
2 | g.31529348_31529349delinsGA | CA1242197382 | SRD5A2 | c.656_657delinsTC (p.Phe219=) c.434_435delinsTC (p.Phe145=) c.401_402delinsTC (p.Phe134=) | |
2 | g.31529349A>C | CA346597925 | SRD5A2 | c.656T>G (p.Phe219Cys) c.434T>G (p.Phe145Cys) c.401T>G (p.Phe134Cys) | |
2 | g.31529349A>G | CA346597926 | SRD5A2 | c.656T>C (p.Phe219Ser) c.434T>C (p.Phe145Ser) c.401T>C (p.Phe134Ser) | |
2 | g.31529349A>T | CA346597927 | SRD5A2 | c.656T>A (p.Phe219Tyr) c.434T>A (p.Phe145Tyr) c.401T>A (p.Phe134Tyr) | |
2 | g.31529353dup | CA2586969023 | SRD5A2 | c.656dup (p.Ser220LeufsTer14) c.434dup (p.Ser146LeufsTer14) c.401dup (p.Ser135LeufsTer14) | |
2 | g.31529353del | CA224872 | SRD5A2 | c.656del (p.Phe219SerfsTer?) c.434del (p.Phe145SerfsTer?) c.401del (p.Phe134SerfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529350A= | CA1242197383 | SRD5A2 | c.655T= (p.Phe219=) c.433T= (p.Phe145=) c.400T= (p.Phe134=) | |
2 | g.31529350A>C | CA45136312 | SRD5A2 | c.655T>G (p.Phe219Val) c.433T>G (p.Phe145Val) c.400T>G (p.Phe134Val) | dbSNP gnomAD v4 |
2 | g.31529350A>G | CA346597928 | SRD5A2 | c.655T>C (p.Phe219Leu) c.433T>C (p.Phe145Leu) c.400T>C (p.Phe134Leu) | |
2 | g.31529350A>T | CA346597929 | SRD5A2 | c.655T>A (p.Phe219Ile) c.433T>A (p.Phe145Ile) c.400T>A (p.Phe134Ile) | |
2 | g.31529351A= | CA1242197384 | SRD5A2 | c.654T= (p.Phe218=) c.432T= (p.Phe144=) c.399T= (p.Phe133=) | |
2 | g.31529351A>C | CA346597930 | SRD5A2 | c.654T>G (p.Phe218Leu) c.432T>G (p.Phe144Leu) c.399T>G (p.Phe133Leu) | |
2 | g.31529351A>G | CA425567429 | SRD5A2 | c.654T>C (p.Phe218=) c.432T>C (p.Phe144=) c.399T>C (p.Phe133=) | |
2 | g.31529351A>T | CA346597931 | SRD5A2 | c.654T>A (p.Phe218Leu) c.432T>A (p.Phe144Leu) c.399T>A (p.Phe133Leu) | dbSNP |
2 | g.31529352A>C | CA346597932 | SRD5A2 | c.653T>G (p.Phe218Cys) c.431T>G (p.Phe144Cys) c.398T>G (p.Phe133Cys) | |
2 | g.31529352A>G | CA346597933 | SRD5A2 | c.653T>C (p.Phe218Ser) c.431T>C (p.Phe144Ser) c.398T>C (p.Phe133Ser) | |
2 | g.31529352A>T | CA346597934 | SRD5A2 | c.653T>A (p.Phe218Tyr) c.431T>A (p.Phe144Tyr) c.398T>A (p.Phe133Tyr) | |
2 | g.31529353A>C | CA346597935 | SRD5A2 | c.652T>G (p.Phe218Val) c.430T>G (p.Phe144Val) c.397T>G (p.Phe133Val) | |
2 | g.31529353A>G | CA346597936 | SRD5A2 | c.652T>C (p.Phe218Leu) c.430T>C (p.Phe144Leu) c.397T>C (p.Phe133Leu) | |
2 | g.31529353A>T | CA346597937 | SRD5A2 | c.652T>A (p.Phe218Ile) c.430T>A (p.Phe144Ile) c.397T>A (p.Phe133Ile) | |
2 | g.31529354T>A | CA1599871 | SRD5A2 | c.651A>T (p.Ala217=) c.429A>T (p.Ala143=) c.396A>T (p.Ala132=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31529354T>C | CA425567430 | SRD5A2 | c.651A>G (p.Ala217=) c.429A>G (p.Ala143=) c.396A>G (p.Ala132=) | ClinVar dbSNP |
2 | g.31529354T>G | CA425567431 | SRD5A2 | c.651A>C (p.Ala217=) c.429A>C (p.Ala143=) c.396A>C (p.Ala132=) | |
2 | g.31529354T= | CA1242197385 | SRD5A2 | c.651A= (p.Ala217=) c.429A= (p.Ala143=) c.396A= (p.Ala132=) | |
2 | g.31529355G>A | CA346597938 | SRD5A2 | c.650C>T (p.Ala217Val) c.428C>T (p.Ala143Val) c.395C>T (p.Ala132Val) | |
2 | g.31529355G>C | CA346597940 | SRD5A2 | c.650C>G (p.Ala217Gly) c.428C>G (p.Ala143Gly) c.395C>G (p.Ala132Gly) | |
2 | g.31529355G>T | CA346597939 | SRD5A2 | c.650C>A (p.Ala217Glu) c.428C>A (p.Ala143Glu) c.395C>A (p.Ala132Glu) | COSMIC |
2 | g.31529356C>A | CA346597941 | SRD5A2 | c.649G>T (p.Ala217Ser) c.427G>T (p.Ala143Ser) c.394G>T (p.Ala132Ser) | dbSNP |
2 | g.31529356C= | CA1242197386 | SRD5A2 | c.649G= (p.Ala217=) c.427G= (p.Ala143=) c.394G= (p.Ala132=) | |
2 | g.31529356C>G | CA346597942 | SRD5A2 | c.649G>C (p.Ala217Pro) c.427G>C (p.Ala143Pro) c.394G>C (p.Ala132Pro) | |
2 | g.31529356C>T | CA45136313 | SRD5A2 | c.649G>A (p.Ala217Thr) c.427G>A (p.Ala143Thr) c.394G>A (p.Ala132Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31529357A>C | CA346597943 | SRD5A2 | c.648T>G (p.Phe216Leu) c.426T>G (p.Phe142Leu) c.393T>G (p.Phe131Leu) | |
2 | g.31529357A>G | CA425567432 | SRD5A2 | c.648T>C (p.Phe216=) c.426T>C (p.Phe142=) c.393T>C (p.Phe131=) | |
2 | g.31529357A>T | CA346597944 | SRD5A2 | c.648T>A (p.Phe216Leu) c.426T>A (p.Phe142Leu) c.393T>A (p.Phe131Leu) | |
2 | g.31529358A>C | CA346597947 | SRD5A2 | c.647T>G (p.Phe216Cys) c.425T>G (p.Phe142Cys) c.392T>G (p.Phe131Cys) | |
2 | g.31529358A>G | CA346597946 | SRD5A2 | c.647T>C (p.Phe216Ser) c.425T>C (p.Phe142Ser) c.392T>C (p.Phe131Ser) | |
2 | g.31529358A>T | CA346597945 | SRD5A2 | c.647T>A (p.Phe216Tyr) c.425T>A (p.Phe142Tyr) c.392T>A (p.Phe131Tyr) | |
2 | g.31529359A>C | CA346597948 | SRD5A2 | c.646T>G (p.Phe216Val) c.424T>G (p.Phe142Val) c.391T>G (p.Phe131Val) | |
2 | g.31529359A>G | CA346597949 | SRD5A2 | c.646T>C (p.Phe216Leu) c.424T>C (p.Phe142Leu) c.391T>C (p.Phe131Leu) | |
2 | g.31529359A>T | CA346597950 | SRD5A2 | c.646T>A (p.Phe216Ile) c.424T>A (p.Phe142Ile) c.391T>A (p.Phe131Ile) | |
2 | g.31529360T>A | CA425567433 | SRD5A2 | c.645A>T (p.Ala215=) c.423A>T (p.Ala141=) c.390A>T (p.Ala130=) | |
2 | g.31529360T>C | CA425567434 | SRD5A2 | c.645A>G (p.Ala215=) c.423A>G (p.Ala141=) c.390A>G (p.Ala130=) | gnomAD v4 |
2 | g.31529360T>G | CA425567435 | SRD5A2 | c.645A>C (p.Ala215=) c.423A>C (p.Ala141=) c.390A>C (p.Ala130=) | |
2 | g.31529361G>A | CA45136314 | SRD5A2 | c.644C>T (p.Ala215Val) c.422C>T (p.Ala141Val) c.389C>T (p.Ala130Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529361G>C | CA346597951 | SRD5A2 | c.644C>G (p.Ala215Gly) c.422C>G (p.Ala141Gly) c.389C>G (p.Ala130Gly) | gnomAD v4 |
2 | g.31529361G= | CA1242197387 | SRD5A2 | c.644C= (p.Ala215=) c.422C= (p.Ala141=) c.389C= (p.Ala130=) | |
2 | g.31529361G>T | CA346597952 | SRD5A2 | c.644C>A (p.Ala215Glu) c.422C>A (p.Ala141Glu) c.389C>A (p.Ala130Glu) | |
2 | g.31529362C>A | CA45136315 | SRD5A2 | c.643G>T (p.Ala215Ser) c.421G>T (p.Ala141Ser) c.388G>T (p.Ala130Ser) | dbSNP |
2 | g.31529362C= | CA1242197388 | SRD5A2 | c.643G= (p.Ala215=) c.421G= (p.Ala141=) c.388G= (p.Ala130=) | |
2 | g.31529362C>G | CA346597954 | SRD5A2 | c.643G>C (p.Ala215Pro) c.421G>C (p.Ala141Pro) c.388G>C (p.Ala130Pro) | |
2 | g.31529362C>T | CA346597953 | SRD5A2 | c.643G>A (p.Ala215Thr) c.421G>A (p.Ala141Thr) c.388G>A (p.Ala130Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31529362dup | CA646590719 | SRD5A2 | c.643dup (p.Ala215GlyfsTer19) c.421dup (p.Ala141GlyfsTer19) c.388dup (p.Ala130GlyfsTer19) | COSMIC |
2 | g.31529363A>C | CA425567436 | SRD5A2 | c.642T>G (p.Leu214=) c.420T>G (p.Leu140=) c.387T>G (p.Leu129=) | |
2 | g.31529363A>G | CA425567437 | SRD5A2 | c.642T>C (p.Leu214=) c.420T>C (p.Leu140=) c.387T>C (p.Leu129=) | |
2 | g.31529363A>T | CA425567438 | SRD5A2 | c.642T>A (p.Leu214=) c.420T>A (p.Leu140=) c.387T>A (p.Leu129=) | |
2 | g.31529364del | CA2586969024 | SRD5A2 | c.642del (p.Ala215HisfsTer?) c.420del (p.Ala141HisfsTer?) c.387del (p.Ala130HisfsTer?) | |
2 | g.31529364A>C | CA346597955 | SRD5A2 | c.641T>G (p.Leu214Arg) c.419T>G (p.Leu140Arg) c.386T>G (p.Leu129Arg) | |
2 | g.31529364A>G | CA346597956 | SRD5A2 | c.641T>C (p.Leu214Pro) c.419T>C (p.Leu140Pro) c.386T>C (p.Leu129Pro) | |
2 | g.31529364A>T | CA346597957 | SRD5A2 | c.641T>A (p.Leu214His) c.419T>A (p.Leu140His) c.386T>A (p.Leu129His) | |
2 | g.31529365G>A | CA346597958 | SRD5A2 | c.640C>T (p.Leu214Phe) c.418C>T (p.Leu140Phe) c.385C>T (p.Leu129Phe) | |
2 | g.31529365G>C | CA346597959 | SRD5A2 | c.640C>G (p.Leu214Val) c.418C>G (p.Leu140Val) c.385C>G (p.Leu129Val) | |
2 | g.31529365G>T | CA346597960 | SRD5A2 | c.640C>A (p.Leu214Ile) c.418C>A (p.Leu140Ile) c.385C>A (p.Leu129Ile) | |
2 | g.31529366del | CA2658498130 | SRD5A2 | c.639del (p.Ala215HisfsTer?) c.417del (p.Ala141HisfsTer?) c.384del (p.Ala130HisfsTer?) | gnomAD v4 |
2 | g.31529366T>A | CA425567439 | SRD5A2 | c.639A>T (p.Ala213=) c.417A>T (p.Ala139=) c.384A>T (p.Ala128=) | |
2 | g.31529366T>C | CA1599872 | SRD5A2 | c.639A>G (p.Ala213=) c.417A>G (p.Ala139=) c.384A>G (p.Ala128=) | dbSNP ExAC gnomAD v2 |
2 | g.31529366T>G | CA425567440 | SRD5A2 | c.639A>C (p.Ala213=) c.417A>C (p.Ala139=) c.384A>C (p.Ala128=) | |
2 | g.31529366T= | CA1242197389 | SRD5A2 | c.639A= (p.Ala213=) c.417A= (p.Ala139=) c.384A= (p.Ala128=) | |
2 | g.31529367G>A | CA346597961 | SRD5A2 | c.638C>T (p.Ala213Val) c.416C>T (p.Ala139Val) c.383C>T (p.Ala128Val) | dbSNP |
2 | g.31529367G>C | CA346597962 | SRD5A2 | c.638C>G (p.Ala213Gly) c.416C>G (p.Ala139Gly) c.383C>G (p.Ala128Gly) | |
2 | g.31529367G= | CA1242197390 | SRD5A2 | c.638C= (p.Ala213=) c.416C= (p.Ala139=) c.383C= (p.Ala128=) | |
2 | g.31529367G>T | CA45136316 | SRD5A2 | c.638C>A (p.Ala213Glu) c.416C>A (p.Ala139Glu) c.383C>A (p.Ala128Glu) | dbSNP |
2 | g.31529368C>A | CA346597963 | SRD5A2 | c.637G>T (p.Ala213Ser) c.415G>T (p.Ala139Ser) c.382G>T (p.Ala128Ser) | |
2 | g.31529368C= | CA1242197391 | SRD5A2 | c.637G= (p.Ala213=) c.415G= (p.Ala139=) c.382G= (p.Ala128=) | |
2 | g.31529368C>G | CA346597965 | SRD5A2 | c.637G>C (p.Ala213Pro) c.415G>C (p.Ala139Pro) c.382G>C (p.Ala128Pro) | |
2 | g.31529368C>T | CA346597964 | SRD5A2 | c.637G>A (p.Ala213Thr) c.415G>A (p.Ala139Thr) c.382G>A (p.Ala128Thr) | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.31529369T>A | CA425567441 | SRD5A2 | c.636A>T (p.Pro212=) c.414A>T (p.Pro138=) c.381A>T (p.Pro127=) | |
2 | g.31529369T>C | CA1599873 | SRD5A2 | c.636A>G (p.Pro212=) c.414A>G (p.Pro138=) c.381A>G (p.Pro127=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31529369T>G | CA425567442 | SRD5A2 | c.636A>C (p.Pro212=) c.414A>C (p.Pro138=) c.381A>C (p.Pro127=) | |
2 | g.31529369T= | CA1242197392 | SRD5A2 | c.636A= (p.Pro212=) c.414A= (p.Pro138=) c.381A= (p.Pro127=) | |
2 | g.31529370G>A | CA346597966 | SRD5A2 | c.635C>T (p.Pro212Leu) c.413C>T (p.Pro138Leu) c.380C>T (p.Pro127Leu) | |
2 | g.31529370G>C | CA340083 | SRD5A2 | c.635C>G (p.Pro212Arg) c.413C>G (p.Pro138Arg) c.380C>G (p.Pro127Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31529370G= | CA1242197393 | SRD5A2 | c.635C= (p.Pro212=) c.413C= (p.Pro138=) c.380C= (p.Pro127=) | |
2 | g.31529370G>T | CA346597967 | SRD5A2 | c.635C>A (p.Pro212Gln) c.413C>A (p.Pro138Gln) c.380C>A (p.Pro127Gln) | COSMIC |
2 | g.31529370_31529371delinsCA | CA2586969025 | SRD5A2 | c.634_635delinsTG (p.Pro212Ter) c.412_413delinsTG (p.Pro138Ter) c.379_380delinsTG (p.Pro127Ter) | |
2 | g.31529371G>A | CA1599874 | SRD5A2 | c.634C>T (p.Pro212Ser) c.412C>T (p.Pro138Ser) c.379C>T (p.Pro127Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31529371G>C | CA346597968 | SRD5A2 | c.634C>G (p.Pro212Ala) c.412C>G (p.Pro138Ala) c.379C>G (p.Pro127Ala) | |
2 | g.31529371G= | CA1242197394 | SRD5A2 | c.634C= (p.Pro212=) c.412C= (p.Pro138=) c.379C= (p.Pro127=) | |
2 | g.31529371G>T | CA346597969 | SRD5A2 | c.634C>A (p.Pro212Thr) c.412C>A (p.Pro138Thr) c.379C>A (p.Pro127Thr) | COSMIC |
2 | g.31529372G>A | CA425567445 | SRD5A2 | c.633C>T (p.Leu211=) c.411C>T (p.Leu137=) c.378C>T (p.Leu126=) | dbSNP gnomAD v4 |
2 | g.31529372G>C | CA425567444 | SRD5A2 | c.633C>G (p.Leu211=) c.411C>G (p.Leu137=) c.378C>G (p.Leu126=) | |
2 | g.31529372G= | CA1242197395 | SRD5A2 | c.633C= (p.Leu211=) c.411C= (p.Leu137=) c.378C= (p.Leu126=) | |
2 | g.31529372G>T | CA425567443 | SRD5A2 | c.633C>A (p.Leu211=) c.411C>A (p.Leu137=) c.378C>A (p.Leu126=) | |
2 | g.31529373A>C | CA346597970 | SRD5A2 | c.632T>G (p.Leu211Arg) c.410T>G (p.Leu137Arg) c.377T>G (p.Leu126Arg) | |
2 | g.31529373A>G | CA346597971 | SRD5A2 | c.632T>C (p.Leu211Pro) c.410T>C (p.Leu137Pro) c.377T>C (p.Leu126Pro) | |
2 | g.31529373A>T | CA346597972 | SRD5A2 | c.632T>A (p.Leu211His) c.410T>A (p.Leu137His) c.377T>A (p.Leu126His) | |
2 | g.31529374G>A | CA346597975 | SRD5A2 | c.631C>T (p.Leu211Phe) c.409C>T (p.Leu137Phe) c.376C>T (p.Leu126Phe) | dbSNP gnomAD v4 COSMIC |
2 | g.31529374G>C | CA346597974 | SRD5A2 | c.631C>G (p.Leu211Val) c.409C>G (p.Leu137Val) c.376C>G (p.Leu126Val) | |
2 | g.31529374G>T | CA346597973 | SRD5A2 | c.631C>A (p.Leu211Ile) c.409C>A (p.Leu137Ile) c.376C>A (p.Leu126Ile) | |
2 | g.31529375G>A | CA425567446 | SRD5A2 | c.630C>T (p.Ser210=) c.408C>T (p.Ser136=) c.375C>T (p.Ser125=) | ClinVar dbSNP gnomAD v4 |
2 | g.31529375G>C | CA425567447 | SRD5A2 | c.630C>G (p.Ser210=) c.408C>G (p.Ser136=) c.375C>G (p.Ser125=) | |
2 | g.31529375G= | CA1242197396 | SRD5A2 | c.630C= (p.Ser210=) c.408C= (p.Ser136=) c.375C= (p.Ser125=) | |
2 | g.31529375G>T | CA425567448 | SRD5A2 | c.630C>A (p.Ser210=) c.408C>A (p.Ser136=) c.375C>A (p.Ser125=) | |
2 | g.31529376G>A | CA346597976 | SRD5A2 | c.629C>T (p.Ser210Phe) c.407C>T (p.Ser136Phe) c.374C>T (p.Ser125Phe) | |
2 | g.31529376G>C | CA346597977 | SRD5A2 | c.629C>G (p.Ser210Cys) c.407C>G (p.Ser136Cys) c.374C>G (p.Ser125Cys) | gnomAD v4 |
2 | g.31529376G>T | CA346597978 | SRD5A2 | c.629C>A (p.Ser210Tyr) c.407C>A (p.Ser136Tyr) c.374C>A (p.Ser125Tyr) | gnomAD v4 |
2 | g.31529377A>C | CA346597979 | SRD5A2 | c.628T>G (p.Ser210Ala) c.406T>G (p.Ser136Ala) c.373T>G (p.Ser125Ala) | |
2 | g.31529377A>G | CA346597980 | SRD5A2 | c.628T>C (p.Ser210Pro) c.406T>C (p.Ser136Pro) c.373T>C (p.Ser125Pro) | |
2 | g.31529377A>T | CA346597981 | SRD5A2 | c.628T>A (p.Ser210Thr) c.406T>A (p.Ser136Thr) c.373T>A (p.Ser125Thr) | gnomAD v4 |
2 | g.31529378C>A | CA346597982 | SRD5A2 | c.627G>T (p.Trp209Cys) c.405G>T (p.Trp135Cys) c.372G>T (p.Trp124Cys) | |
2 | g.31529378C>G | CA346597983 | SRD5A2 | c.627G>C (p.Trp209Cys) c.405G>C (p.Trp135Cys) c.372G>C (p.Trp124Cys) | |
2 | g.31529378C>T | CA346597984 | SRD5A2 | c.627G>A (p.Trp209Ter) c.405G>A (p.Trp135Ter) c.372G>A (p.Trp124Ter) | gnomAD v4 |
2 | g.31529379C>A | CA346597985 | SRD5A2 | c.626G>T (p.Trp209Leu) c.404G>T (p.Trp135Leu) c.371G>T (p.Trp124Leu) | |
2 | g.31529379C>G | CA346597986 | SRD5A2 | c.626G>C (p.Trp209Ser) c.404G>C (p.Trp135Ser) c.371G>C (p.Trp124Ser) | |
2 | g.31529379C>T | CA346597987 | SRD5A2 | c.626G>A (p.Trp209Ter) c.404G>A (p.Trp135Ter) c.371G>A (p.Trp124Ter) | |
2 | g.31529380A= | CA1242197397 | SRD5A2 | c.625T= (p.Trp209=) c.403T= (p.Trp135=) c.370T= (p.Trp124=) | |
2 | g.31529380A>C | CA346597989 | SRD5A2 | c.625T>G (p.Trp209Gly) c.403T>G (p.Trp135Gly) c.370T>G (p.Trp124Gly) | |
2 | g.31529380A>G | CA346597990 | SRD5A2 | c.625T>C (p.Trp209Arg) c.403T>C (p.Trp135Arg) c.370T>C (p.Trp124Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31529380A>T | CA346597988 | SRD5A2 | c.625T>A (p.Trp209Arg) c.403T>A (p.Trp135Arg) c.370T>A (p.Trp124Arg) | |
2 | g.31529381A>C | CA425567449 | SRD5A2 | c.624T>G (p.Thr208=) c.402T>G (p.Thr134=) c.369T>G (p.Thr123=) | |
2 | g.31529381A>G | CA425567450 | SRD5A2 | c.624T>C (p.Thr208=) c.402T>C (p.Thr134=) c.369T>C (p.Thr123=) | |
2 | g.31529381A>T | CA425567451 | SRD5A2 | c.624T>A (p.Thr208=) c.402T>A (p.Thr134=) c.369T>A (p.Thr123=) | |
2 | g.31529382G>A | CA1599875 | SRD5A2 | c.623C>T (p.Thr208Ile) c.401C>T (p.Thr134Ile) c.368C>T (p.Thr123Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31529382G>C | CA346597991 | SRD5A2 | c.623C>G (p.Thr208Ser) c.401C>G (p.Thr134Ser) c.368C>G (p.Thr123Ser) | gnomAD v4 |
2 | g.31529382G= | CA1242197398 | SRD5A2 | c.623C= (p.Thr208=) c.401C= (p.Thr134=) c.368C= (p.Thr123=) | |
2 | g.31529382G>T | CA346597992 | SRD5A2 | c.623C>A (p.Thr208Asn) c.401C>A (p.Thr134Asn) c.368C>A (p.Thr123Asn) | |
2 | g.31529383T>A | CA346597993 | SRD5A2 | c.622A>T (p.Thr208Ser) c.400A>T (p.Thr134Ser) c.367A>T (p.Thr123Ser) | |
2 | g.31529383T>C | CA346597994 | SRD5A2 | c.622A>G (p.Thr208Ala) c.400A>G (p.Thr134Ala) c.367A>G (p.Thr123Ala) | dbSNP gnomAD v4 |
2 | g.31529383T>G | CA346597995 | SRD5A2 | c.622A>C (p.Thr208Pro) c.400A>C (p.Thr134Pro) c.367A>C (p.Thr123Pro) | |
2 | g.31529383T= | CA1242197399 | SRD5A2 | c.622A= (p.Thr208=) c.400A= (p.Thr134=) c.367A= (p.Thr123=) | |
2 | g.31529384G>A | CA425567452 | SRD5A2 | c.621C>T (p.Ala207=) c.399C>T (p.Ala133=) c.366C>T (p.Ala122=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.31529384G>C | CA425567453 | SRD5A2 | c.621C>G (p.Ala207=) c.399C>G (p.Ala133=) c.366C>G (p.Ala122=) | |
2 | g.31529384G= | CA1242197400 | SRD5A2 | c.621C= (p.Ala207=) c.399C= (p.Ala133=) c.366C= (p.Ala122=) | |
2 | g.31529384G>T | CA425567454 | SRD5A2 | c.621C>A (p.Ala207=) c.399C>A (p.Ala133=) c.366C>A (p.Ala122=) | |
2 | g.31529385G>A | CA346597996 | SRD5A2 | c.620C>T (p.Ala207Val) c.398C>T (p.Ala133Val) c.365C>T (p.Ala122Val) | dbSNP |
2 | g.31529385G>C | CA346597997 | SRD5A2 | c.620C>G (p.Ala207Gly) c.398C>G (p.Ala133Gly) c.365C>G (p.Ala122Gly) | |
2 | g.31529385G= | CA1242197401 | SRD5A2 | c.620C= (p.Ala207=) c.398C= (p.Ala133=) c.365C= (p.Ala122=) | |
2 | g.31529385G>T | CA1599876 | SRD5A2 | c.620C>A (p.Ala207Asp) c.398C>A (p.Ala133Asp) c.365C>A (p.Ala122Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529386C>A | CA346597998 | SRD5A2 | c.619G>T (p.Ala207Ser) c.397G>T (p.Ala133Ser) c.364G>T (p.Ala122Ser) | |
2 | g.31529386C= | CA1242197402 | SRD5A2 | c.619G= (p.Ala207=) c.397G= (p.Ala133=) c.364G= (p.Ala122=) | |
2 | g.31529386C>G | CA346597999 | SRD5A2 | c.619G>C (p.Ala207Pro) c.397G>C (p.Ala133Pro) c.364G>C (p.Ala122Pro) | gnomAD v4 |
2 | g.31529386C>T | CA1599877 | SRD5A2 | c.619G>A (p.Ala207Thr) c.397G>A (p.Ala133Thr) c.364G>A (p.Ala122Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529387C>A | CA425567457 | SRD5A2 | c.618G>T (p.Leu206=) c.396G>T (p.Leu132=) c.363G>T (p.Leu121=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31529387C= | CA1242197403 | SRD5A2 | c.618G= (p.Leu206=) c.396G= (p.Leu132=) c.363G= (p.Leu121=) | |
2 | g.31529387C>G | CA425567456 | SRD5A2 | c.618G>C (p.Leu206=) c.396G>C (p.Leu132=) c.363G>C (p.Leu121=) | |
2 | g.31529387C>T | CA425567455 | SRD5A2 | c.618G>A (p.Leu206=) c.396G>A (p.Leu132=) c.363G>A (p.Leu121=) | |
2 | g.31529388A>C | CA346598002 | SRD5A2 | c.617T>G (p.Leu206Arg) c.395T>G (p.Leu132Arg) c.362T>G (p.Leu121Arg) | |
2 | g.31529388A>G | CA346598001 | SRD5A2 | c.617T>C (p.Leu206Pro) c.395T>C (p.Leu132Pro) c.362T>C (p.Leu121Pro) | gnomAD v4 |
2 | g.31529388A>T | CA346598000 | SRD5A2 | c.617T>A (p.Leu206Gln) c.395T>A (p.Leu132Gln) c.362T>A (p.Leu121Gln) | |
2 | g.31529389G>A | CA425567458 | SRD5A2 | c.616C>T (p.Leu206=) c.394C>T (p.Leu132=) c.361C>T (p.Leu121=) | |
2 | g.31529389G>C | CA346598003 | SRD5A2 | c.616C>G (p.Leu206Val) c.394C>G (p.Leu132Val) c.361C>G (p.Leu121Val) | |
2 | g.31529389G>T | CA346598004 | SRD5A2 | c.616C>A (p.Leu206Met) c.394C>A (p.Leu132Met) c.361C>A (p.Leu121Met) | |
2 | g.31529390G>A | CA1599878 | SRD5A2 | c.615C>T (p.Ala205=) c.393C>T (p.Ala131=) c.360C>T (p.Ala120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31529390G>C | CA425567459 | SRD5A2 | c.615C>G (p.Ala205=) c.393C>G (p.Ala131=) c.360C>G (p.Ala120=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31529390G= | CA1242197404 | SRD5A2 | c.615C= (p.Ala205=) c.393C= (p.Ala131=) c.360C= (p.Ala120=) | |
2 | g.31529390G>T | CA425567460 | SRD5A2 | c.615C>A (p.Ala205=) c.393C>A (p.Ala131=) c.360C>A (p.Ala120=) | |
2 | g.31529391G>A | CA45136317 | SRD5A2 | c.614C>T (p.Ala205Val) c.392C>T (p.Ala131Val) c.359C>T (p.Ala120Val) | dbSNP gnomAD v4 |
2 | g.31529391G>C | CA346598005 | SRD5A2 | c.614C>G (p.Ala205Gly) c.392C>G (p.Ala131Gly) c.359C>G (p.Ala120Gly) | |
2 | g.31529391G= | CA1242197405 | SRD5A2 | c.614C= (p.Ala205=) c.392C= (p.Ala131=) c.359C= (p.Ala120=) | |
2 | g.31529391G>T | CA346598006 | SRD5A2 | c.614C>A (p.Ala205Asp) c.392C>A (p.Ala131Asp) c.359C>A (p.Ala120Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.31529392C>A | CA346598007 | SRD5A2 | c.613G>T (p.Ala205Ser) c.391G>T (p.Ala131Ser) c.358G>T (p.Ala120Ser) | dbSNP |
2 | g.31529392C>G | CA346598008 | SRD5A2 | c.613G>C (p.Ala205Pro) c.391G>C (p.Ala131Pro) c.358G>C (p.Ala120Pro) | |
2 | g.31529392C>T | CA346598009 | SRD5A2 | c.613G>A (p.Ala205Thr) c.391G>A (p.Ala131Thr) c.358G>A (p.Ala120Thr) | |
2 | g.31529393A= | CA1242197406 | SRD5A2 | c.612T= (p.Tyr204=) c.390T= (p.Tyr130=) c.357T= (p.Tyr119=) | |
2 | g.31529393A>C | CA346598010 | SRD5A2 | c.612T>G (p.Tyr204Ter) c.390T>G (p.Tyr130Ter) c.357T>G (p.Tyr119Ter) | |
2 | g.31529393A>G | CA425567461 | SRD5A2 | c.612T>C (p.Tyr204=) c.390T>C (p.Tyr130=) c.357T>C (p.Tyr119=) | dbSNP |
2 | g.31529393A>T | CA346598011 | SRD5A2 | c.612T>A (p.Tyr204Ter) c.390T>A (p.Tyr130Ter) c.357T>A (p.Tyr119Ter) | |
2 | g.31529394T>A | CA346598012 | SRD5A2 | c.611A>T (p.Tyr204Phe) c.389A>T (p.Tyr130Phe) c.356A>T (p.Tyr119Phe) | |
2 | g.31529394T>C | CA346598013 | SRD5A2 | c.611A>G (p.Tyr204Cys) c.389A>G (p.Tyr130Cys) c.356A>G (p.Tyr119Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31529394T>G | CA346598014 | SRD5A2 | c.611A>C (p.Tyr204Ser) c.389A>C (p.Tyr130Ser) c.356A>C (p.Tyr119Ser) | |
2 | g.31529394T= | CA1242197407 | SRD5A2 | c.611A= (p.Tyr204=) c.389A= (p.Tyr130=) c.356A= (p.Tyr119=) | |
2 | g.31529395A>C | CA346598016 | SRD5A2 | c.610T>G (p.Tyr204Asp) c.388T>G (p.Tyr130Asp) c.355T>G (p.Tyr119Asp) | |
2 | g.31529395A>G | CA346598017 | SRD5A2 | c.610T>C (p.Tyr204His) c.388T>C (p.Tyr130His) c.355T>C (p.Tyr119His) | |
2 | g.31529395A>T | CA346598015 | SRD5A2 | c.610T>A (p.Tyr204Asn) c.388T>A (p.Tyr130Asn) c.355T>A (p.Tyr119Asn) | |
2 | g.31529396G>A | CA425567462 | SRD5A2 | c.609C>T (p.Gly203=) c.387C>T (p.Gly129=) c.354C>T (p.Gly118=) | |
2 | g.31529396G>C | CA425567463 | SRD5A2 | c.609C>G (p.Gly203=) c.387C>G (p.Gly129=) c.354C>G (p.Gly118=) | |
2 | g.31529396G>T | CA425567464 | SRD5A2 | c.609C>A (p.Gly203=) c.387C>A (p.Gly129=) c.354C>A (p.Gly118=) | |
2 | g.31529397C>A | CA346598018 | SRD5A2 | c.608G>T (p.Gly203Val) c.386G>T (p.Gly129Val) c.353G>T (p.Gly118Val) | |
2 | g.31529397C>G | CA346598019 | SRD5A2 | c.608G>C (p.Gly203Ala) c.386G>C (p.Gly129Ala) c.353G>C (p.Gly118Ala) | |
2 | g.31529397C>T | CA346598020 | SRD5A2 | c.608G>A (p.Gly203Asp) c.386G>A (p.Gly129Asp) c.353G>A (p.Gly118Asp) | dbSNP |
2 | g.31529398C>A | CA346598021 | SRD5A2 | c.607G>T (p.Gly203Cys) c.385G>T (p.Gly129Cys) c.352G>T (p.Gly118Cys) | |
2 | g.31529398C= | CA1242197408 | SRD5A2 | c.607G= (p.Gly203=) c.385G= (p.Gly129=) c.352G= (p.Gly118=) | |
2 | g.31529398C>G | CA346598022 | SRD5A2 | c.607G>C (p.Gly203Arg) c.385G>C (p.Gly129Arg) c.352G>C (p.Gly118Arg) | |
2 | g.31529398C>T | CA1599879 | SRD5A2 | c.607G>A (p.Gly203Ser) c.385G>A (p.Gly129Ser) c.352G>A (p.Gly118Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529399G>A | CA1599880 | SRD5A2 | c.606C>T (p.Ile202=) c.384C>T (p.Ile128=) c.351C>T (p.Ile117=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529399G>C | CA346598023 | SRD5A2 | c.606C>G (p.Ile202Met) c.384C>G (p.Ile128Met) c.351C>G (p.Ile117Met) | |
2 | g.31529399G= | CA1242197409 | SRD5A2 | c.606C= (p.Ile202=) c.384C= (p.Ile128=) c.351C= (p.Ile117=) | |
2 | g.31529399G>T | CA425567465 | SRD5A2 | c.606C>A (p.Ile202=) c.384C>A (p.Ile128=) c.351C>A (p.Ile117=) | dbSNP |
2 | g.31529400A>C | CA346598024 | SRD5A2 | c.605T>G (p.Ile202Ser) c.383T>G (p.Ile128Ser) c.350T>G (p.Ile117Ser) | |
2 | g.31529400A>G | CA346598025 | SRD5A2 | c.605T>C (p.Ile202Thr) c.383T>C (p.Ile128Thr) c.350T>C (p.Ile117Thr) | |
2 | g.31529400A>T | CA346598026 | SRD5A2 | c.605T>A (p.Ile202Asn) c.383T>A (p.Ile128Asn) c.350T>A (p.Ile117Asn) | |
2 | g.31529401T>A | CA346598027 | SRD5A2 | c.604A>T (p.Ile202Phe) c.382A>T (p.Ile128Phe) c.349A>T (p.Ile117Phe) | |
2 | g.31529401T>C | CA346598028 | SRD5A2 | c.604A>G (p.Ile202Val) c.382A>G (p.Ile128Val) c.349A>G (p.Ile117Val) | |
2 | g.31529401T>G | CA346598029 | SRD5A2 | c.604A>C (p.Ile202Leu) c.382A>C (p.Ile128Leu) c.349A>C (p.Ile117Leu) | |
2 | g.31529402C>A | CA346598030 | SRD5A2 | c.603G>T (p.Trp201Cys) c.381G>T (p.Trp127Cys) c.348G>T (p.Trp116Cys) | |
2 | g.31529402C>G | CA346598032 | SRD5A2 | c.603G>C (p.Trp201Cys) c.381G>C (p.Trp127Cys) c.348G>C (p.Trp116Cys) | |
2 | g.31529402C>T | CA346598031 | SRD5A2 | c.603G>A (p.Trp201Ter) c.381G>A (p.Trp127Ter) c.348G>A (p.Trp116Ter) | |
2 | g.31529403C>A | CA346598033 | SRD5A2 | c.602G>T (p.Trp201Leu) c.380G>T (p.Trp127Leu) c.347G>T (p.Trp116Leu) | |
2 | g.31529403C>G | CA346598034 | SRD5A2 | c.602G>C (p.Trp201Ser) c.380G>C (p.Trp127Ser) c.347G>C (p.Trp116Ser) | |
2 | g.31529403C>T | CA346598035 | SRD5A2 | c.602G>A (p.Trp201Ter) c.380G>A (p.Trp127Ter) c.347G>A (p.Trp116Ter) | ClinVar COSMIC |
2 | g.31529404A>C | CA346598036 | SRD5A2 | c.601T>G (p.Trp201Gly) c.379T>G (p.Trp127Gly) c.346T>G (p.Trp116Gly) | |
2 | g.31529404A>G | CA346598037 | SRD5A2 | c.601T>C (p.Trp201Arg) c.379T>C (p.Trp127Arg) c.346T>C (p.Trp116Arg) | gnomAD v4 |
2 | g.31529404A>T | CA346598038 | SRD5A2 | c.601T>A (p.Trp201Arg) c.379T>A (p.Trp127Arg) c.346T>A (p.Trp116Arg) | ClinVar |
2 | g.31529404_31529406del | CA2658498153 | SRD5A2 | c.599_601del (p.Glu200_Trp201delinsGly) c.377_379del (p.Glu126_Trp127delinsGly) c.344_346del (p.Glu115_Trp116delinsGly) | gnomAD v4 |
2 | g.31529405T>A | CA346598039 | SRD5A2 | c.600A>T (p.Glu200Asp) c.378A>T (p.Glu126Asp) c.345A>T (p.Glu115Asp) | dbSNP |
2 | g.31529405T>C | CA425567466 | SRD5A2 | c.600A>G (p.Glu200=) c.378A>G (p.Glu126=) c.345A>G (p.Glu115=) | gnomAD v4 |
2 | g.31529405T>G | CA346598040 | SRD5A2 | c.600A>C (p.Glu200Asp) c.378A>C (p.Glu126Asp) c.345A>C (p.Glu115Asp) | |
2 | g.31529405T= | CA1242197410 | SRD5A2 | c.600A= (p.Glu200=) c.378A= (p.Glu126=) c.345A= (p.Glu115=) | |
2 | g.31529406T>A | CA346598041 | SRD5A2 | c.599A>T (p.Glu200Val) c.377A>T (p.Glu126Val) c.344A>T (p.Glu115Val) | |
2 | g.31529406T>C | CA346598042 | SRD5A2 | c.599A>G (p.Glu200Gly) c.377A>G (p.Glu126Gly) c.344A>G (p.Glu115Gly) | |
2 | g.31529406T>G | CA346598043 | SRD5A2 | c.599A>C (p.Glu200Ala) c.377A>C (p.Glu126Ala) c.344A>C (p.Glu115Ala) | |
2 | g.31529407C>A | CA346598044 | SRD5A2 | c.598G>T (p.Glu200Ter) c.376G>T (p.Glu126Ter) c.343G>T (p.Glu115Ter) | |
2 | g.31529407C= | CA1242197411 | SRD5A2 | c.598G= (p.Glu200=) c.376G= (p.Glu126=) c.343G= (p.Glu115=) | |
2 | g.31529407C>G | CA346598045 | SRD5A2 | c.598G>C (p.Glu200Gln) c.376G>C (p.Glu126Gln) c.343G>C (p.Glu115Gln) | |
2 | g.31529407C>T | CA1599881 | SRD5A2 | c.598G>A (p.Glu200Lys) c.376G>A (p.Glu126Lys) c.343G>A (p.Glu115Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31529408A>C | CA346598046 | SRD5A2 | c.597T>G (p.Ile199Met) c.375T>G (p.Ile125Met) c.342T>G (p.Ile114Met) | gnomAD v4 |
2 | g.31529408A>G | CA425567468 | SRD5A2 | c.597T>C (p.Ile199=) c.375T>C (p.Ile125=) c.342T>C (p.Ile114=) | |
2 | g.31529408A>T | CA425567467 | SRD5A2 | c.597T>A (p.Ile199=) c.375T>A (p.Ile125=) c.342T>A (p.Ile114=) | |
2 | g.31529409A= | CA1242197412 | SRD5A2 | c.596T= (p.Ile199=) c.374T= (p.Ile125=) c.341T= (p.Ile114=) | |
2 | g.31529409A>C | CA346598047 | SRD5A2 | c.596T>G (p.Ile199Ser) c.374T>G (p.Ile125Ser) c.341T>G (p.Ile114Ser) | |
2 | g.31529409A>G | CA45136318 | SRD5A2 | c.596T>C (p.Ile199Thr) c.374T>C (p.Ile125Thr) c.341T>C (p.Ile114Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31529409A>T | CA1599882 | SRD5A2 | c.596T>A (p.Ile199Asn) c.374T>A (p.Ile125Asn) c.341T>A (p.Ile114Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529410T>A | CA346598048 | SRD5A2 | c.595A>T (p.Ile199Phe) c.373A>T (p.Ile125Phe) c.340A>T (p.Ile114Phe) | gnomAD v4 |
2 | g.31529410T>C | CA346598049 | SRD5A2 | c.595A>G (p.Ile199Val) c.373A>G (p.Ile125Val) c.340A>G (p.Ile114Val) | |
2 | g.31529410T>G | CA346598050 | SRD5A2 | c.595A>C (p.Ile199Leu) c.373A>C (p.Ile125Leu) c.340A>C (p.Ile114Leu) | |
2 | g.31529411G>A | CA1599883 | SRD5A2 | c.594C>T (p.Ile198=) c.372C>T (p.Ile124=) c.339C>T (p.Ile113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529411G>C | CA346598051 | SRD5A2 | c.594C>G (p.Ile198Met) c.372C>G (p.Ile124Met) c.339C>G (p.Ile113Met) | |
2 | g.31529411G= | CA1242197413 | SRD5A2 | c.594C= (p.Ile198=) c.372C= (p.Ile124=) c.339C= (p.Ile113=) | |
2 | g.31529411G>T | CA425567469 | SRD5A2 | c.594C>A (p.Ile198=) c.372C>A (p.Ile124=) c.339C>A (p.Ile113=) | gnomAD v4 |
2 | g.31529412A>C | CA346598052 | SRD5A2 | c.593T>G (p.Ile198Ser) c.371T>G (p.Ile124Ser) c.338T>G (p.Ile113Ser) | |
2 | g.31529412A>G | CA346598053 | SRD5A2 | c.593T>C (p.Ile198Thr) c.371T>C (p.Ile124Thr) c.338T>C (p.Ile113Thr) | |
2 | g.31529412A>T | CA346598054 | SRD5A2 | c.593T>A (p.Ile198Asn) c.371T>A (p.Ile124Asn) c.338T>A (p.Ile113Asn) | gnomAD v4 |
2 | g.31529413T>A | CA346598055 | SRD5A2 | c.592A>T (p.Ile198Phe) c.370A>T (p.Ile124Phe) c.337A>T (p.Ile113Phe) | |
2 | g.31529413T>C | CA346598056 | SRD5A2 | c.592A>G (p.Ile198Val) c.370A>G (p.Ile124Val) c.337A>G (p.Ile113Val) | |
2 | g.31529413T>G | CA346598057 | SRD5A2 | c.592A>C (p.Ile198Leu) c.370A>C (p.Ile124Leu) c.337A>C (p.Ile113Leu) | |
2 | g.31529414C>A | CA340085 | SRD5A2 | c.591G>T (p.Glu197Asp) c.369G>T (p.Glu123Asp) c.336G>T (p.Glu112Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31529414C= | CA1242197414 | SRD5A2 | c.591G= (p.Glu197=) c.369G= (p.Glu123=) c.336G= (p.Glu112=) | |
2 | g.31529414C>G | CA346598058 | SRD5A2 | c.591G>C (p.Glu197Asp) c.369G>C (p.Glu123Asp) c.336G>C (p.Glu112Asp) | |
2 | g.31529414C>T | CA425567470 | SRD5A2 | c.591G>A (p.Glu197=) c.369G>A (p.Glu123=) c.336G>A (p.Glu112=) | gnomAD v4 |
2 | g.31529415T>A | CA346598059 | SRD5A2 | c.590A>T (p.Glu197Val) c.368A>T (p.Glu123Val) c.335A>T (p.Glu112Val) | |
2 | g.31529415T>C | CA346598061 | SRD5A2 | c.590A>G (p.Glu197Gly) c.368A>G (p.Glu123Gly) c.335A>G (p.Glu112Gly) | |
2 | g.31529415T>G | CA346598060 | SRD5A2 | c.590A>C (p.Glu197Ala) c.368A>C (p.Glu123Ala) c.335A>C (p.Glu112Ala) | |
2 | g.31529416C>A | CA346598062 | SRD5A2 | c.589G>T (p.Glu197Ter) c.367G>T (p.Glu123Ter) c.334G>T (p.Glu112Ter) | |
2 | g.31529416C= | CA1242197415 | SRD5A2 | c.589G= (p.Glu197=) c.367G= (p.Glu123=) c.334G= (p.Glu112=) | |
2 | g.31529416C>G | CA346598063 | SRD5A2 | c.589G>C (p.Glu197Gln) c.367G>C (p.Glu123Gln) c.334G>C (p.Glu112Gln) | |
2 | g.31529416C>T | CA1599884 | SRD5A2 | c.589G>A (p.Glu197Lys) c.367G>A (p.Glu123Lys) c.334G>A (p.Glu112Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529417A= | CA1242197416 | SRD5A2 | c.588T= (p.Gly196=) c.366T= (p.Gly122=) c.333T= (p.Gly111=) | |
2 | g.31529417A>C | CA1599885 | SRD5A2 | c.588T>G (p.Gly196=) c.366T>G (p.Gly122=) c.333T>G (p.Gly111=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529417A>G | CA425567471 | SRD5A2 | c.588T>C (p.Gly196=) c.366T>C (p.Gly122=) c.333T>C (p.Gly111=) | |
2 | g.31529417A>T | CA425567472 | SRD5A2 | c.588T>A (p.Gly196=) c.366T>A (p.Gly122=) c.333T>A (p.Gly111=) | |
2 | g.31529417_31529418delinsAC | CA1242197417 | SRD5A2 | c.587_588delinsGT (p.Gly196=) c.365_366delinsGT (p.Gly122=) c.332_333delinsGT (p.Gly111=) | |
2 | g.31529418C>A | CA346598064 | SRD5A2 | c.587G>T (p.Gly196Val) c.365G>T (p.Gly122Val) c.332G>T (p.Gly111Val) | |
2 | g.31529418C>G | CA346598065 | SRD5A2 | c.587G>C (p.Gly196Ala) c.365G>C (p.Gly122Ala) c.332G>C (p.Gly111Ala) | |
2 | g.31529418C>T | CA346598066 | SRD5A2 | c.587G>A (p.Gly196Asp) c.365G>A (p.Gly122Asp) c.332G>A (p.Gly111Asp) | ClinVar |
2 | g.31529419del | CA1599886 | SRD5A2 | c.587del (p.Gly196ValfsTer?) c.365del (p.Gly122ValfsTer?) c.332del (p.Gly111ValfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31529419C>A | CA346598067 | SRD5A2 | c.586G>T (p.Gly196Cys) c.364G>T (p.Gly122Cys) c.331G>T (p.Gly111Cys) | dbSNP |
2 | g.31529419C= | CA1242197418 | SRD5A2 | c.586G= (p.Gly196=) c.364G= (p.Gly122=) c.331G= (p.Gly111=) | |
2 | g.31529419C>G | CA346598068 | SRD5A2 | c.586G>C (p.Gly196Arg) c.364G>C (p.Gly122Arg) c.331G>C (p.Gly111Arg) | ClinVar dbSNP |
2 | g.31529419C>T | CA340079 | SRD5A2 | c.586G>A (p.Gly196Ser) c.364G>A (p.Gly122Ser) c.331G>A (p.Gly111Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529420G>A | CA224918 | SRD5A2 | c.585C>T (p.Leu195=) c.363C>T (p.Leu121=) c.330C>T (p.Leu110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529420G>C | CA425567473 | SRD5A2 | c.585C>G (p.Leu195=) c.363C>G (p.Leu121=) c.330C>G (p.Leu110=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31529420G= | CA1242197419 | SRD5A2 | c.585C= (p.Leu195=) c.363C= (p.Leu121=) c.330C= (p.Leu110=) | |
2 | g.31529420G>T | CA425567474 | SRD5A2 | c.585C>A (p.Leu195=) c.363C>A (p.Leu121=) c.330C>A (p.Leu110=) | |
2 | g.31529421A>C | CA346598071 | SRD5A2 | c.584T>G (p.Leu195Arg) c.362T>G (p.Leu121Arg) c.329T>G (p.Leu110Arg) | |
2 | g.31529421A>G | CA346598069 | SRD5A2 | c.584T>C (p.Leu195Pro) c.362T>C (p.Leu121Pro) c.329T>C (p.Leu110Pro) | |
2 | g.31529421A>T | CA346598070 | SRD5A2 | c.584T>A (p.Leu195His) c.362T>A (p.Leu121His) c.329T>A (p.Leu110His) | |
2 | g.31529422G>A | CA346598072 | SRD5A2 | c.583C>T (p.Leu195Phe) c.361C>T (p.Leu121Phe) c.328C>T (p.Leu110Phe) | |
2 | g.31529422G>C | CA346598073 | SRD5A2 | c.583C>G (p.Leu195Val) c.361C>G (p.Leu121Val) c.328C>G (p.Leu110Val) | |
2 | g.31529422G>T | CA346598074 | SRD5A2 | c.583C>A (p.Leu195Ile) c.361C>A (p.Leu121Ile) c.328C>A (p.Leu110Ile) | |
2 | g.31529423G>A | CA425567475 | SRD5A2 | c.582C>T (p.Phe194=) c.360C>T (p.Phe120=) c.327C>T (p.Phe109=) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.31529423G>C | CA224916 | SRD5A2 | c.582C>G (p.Phe194Leu) c.360C>G (p.Phe120Leu) c.327C>G (p.Phe109Leu) | ClinVar dbSNP |
2 | g.31529423G= | CA1242197420 | SRD5A2 | c.582C= (p.Phe194=) c.360C= (p.Phe120=) c.327C= (p.Phe109=) | |
2 | g.31529423G>T | CA346598075 | SRD5A2 | c.582C>A (p.Phe194Leu) c.360C>A (p.Phe120Leu) c.327C>A (p.Phe109Leu) |