Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) | |
2 | g.31529424A>C | CA346598076 | SRD5A2 | c.581T>G (p.Phe194Cys) c.359T>G (p.Phe120Cys) c.326T>G (p.Phe109Cys) | |
2 | g.31529424A>G | CA346598077 | SRD5A2 | c.581T>C (p.Phe194Ser) c.359T>C (p.Phe120Ser) c.326T>C (p.Phe109Ser) | |
2 | g.31529424A>T | CA346598078 | SRD5A2 | c.581T>A (p.Phe194Tyr) c.359T>A (p.Phe120Tyr) c.326T>A (p.Phe109Tyr) | |
2 | g.31529425A= | CA1242197421 | SRD5A2 | c.580T= (p.Phe194=) c.358T= (p.Phe120=) c.325T= (p.Phe109=) | |
2 | g.31529425A>C | CA346598079 | SRD5A2 | c.580T>G (p.Phe194Val) c.358T>G (p.Phe120Val) c.325T>G (p.Phe109Val) | |
2 | g.31529425A>G | CA346598080 | SRD5A2 | c.580T>C (p.Phe194Leu) c.358T>C (p.Phe120Leu) c.325T>C (p.Phe109Leu) | |
2 | g.31529425A>T | CA1599887 | SRD5A2 | c.580T>A (p.Phe194Ile) c.358T>A (p.Phe120Ile) c.325T>A (p.Phe109Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31529426A>C | CA346598082 | SRD5A2 | c.579T>G (p.Asn193Lys) c.357T>G (p.Asn119Lys) c.324T>G (p.Asn108Lys) | |
2 | g.31529426A>G | CA425567476 | SRD5A2 | c.579T>C (p.Asn193=) c.357T>C (p.Asn119=) c.324T>C (p.Asn108=) | |
2 | g.31529426A>T | CA346598081 | SRD5A2 | c.579T>A (p.Asn193Lys) c.357T>A (p.Asn119Lys) c.324T>A (p.Asn108Lys) | |
2 | g.31529427T>A | CA346598083 | SRD5A2 | c.578A>T (p.Asn193Ile) c.356A>T (p.Asn119Ile) c.323A>T (p.Asn108Ile) | gnomAD v4 |
2 | g.31529427T>C | CA1599888 | SRD5A2 | c.578A>G (p.Asn193Ser) c.356A>G (p.Asn119Ser) c.323A>G (p.Asn108Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529427T>G | CA346598084 | SRD5A2 | c.578A>C (p.Asn193Thr) c.356A>C (p.Asn119Thr) c.323A>C (p.Asn108Thr) | |
2 | g.31529427T= | CA1242197422 | SRD5A2 | c.578A= (p.Asn193=) c.356A= (p.Asn119=) c.323A= (p.Asn108=) | |
2 | g.31529428T>A | CA346598085 | SRD5A2 | c.577A>T (p.Asn193Tyr) c.355A>T (p.Asn119Tyr) c.322A>T (p.Asn108Tyr) | |
2 | g.31529428T>C | CA346598086 | SRD5A2 | c.577A>G (p.Asn193Asp) c.355A>G (p.Asn119Asp) c.322A>G (p.Asn108Asp) | COSMIC |
2 | g.31529428T>G | CA346598087 | SRD5A2 | c.577A>C (p.Asn193His) c.355A>C (p.Asn119His) c.322A>C (p.Asn108His) | |
2 | g.31529429G>A | CA425567477 | SRD5A2 | c.576C>T (p.Ala192=) c.354C>T (p.Ala118=) c.321C>T (p.Ala107=) | |
2 | g.31529429G>C | CA425567478 | SRD5A2 | c.576C>G (p.Ala192=) c.354C>G (p.Ala118=) c.321C>G (p.Ala107=) | |
2 | g.31529429G>T | CA425567479 | SRD5A2 | c.576C>A (p.Ala192=) c.354C>A (p.Ala118=) c.321C>A (p.Ala107=) | |
2 | g.31529430G>A | CA45136319 | SRD5A2 | c.575C>T (p.Ala192Val) c.353C>T (p.Ala118Val) c.320C>T (p.Ala107Val) | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.31529430G>C | CA346598088 | SRD5A2 | c.575C>G (p.Ala192Gly) c.353C>G (p.Ala118Gly) c.320C>G (p.Ala107Gly) | |
2 | g.31529430G= | CA1242197423 | SRD5A2 | c.575C= (p.Ala192=) c.353C= (p.Ala118=) c.320C= (p.Ala107=) | |
2 | g.31529430G>T | CA346598089 | SRD5A2 | c.575C>A (p.Ala192Asp) c.353C>A (p.Ala118Asp) c.320C>A (p.Ala107Asp) | |
2 | g.31529431C>A | CA346598090 | SRD5A2 | c.574G>T (p.Ala192Ser) c.352G>T (p.Ala118Ser) c.319G>T (p.Ala107Ser) | |
2 | g.31529431C>G | CA346598091 | SRD5A2 | c.574G>C (p.Ala192Pro) c.352G>C (p.Ala118Pro) c.319G>C (p.Ala107Pro) | |
2 | g.31529431C>T | CA346598092 | SRD5A2 | c.574G>A (p.Ala192Thr) c.352G>A (p.Ala118Thr) c.319G>A (p.Ala107Thr) | ClinVar gnomAD v4 |
2 | g.31529432T>A | CA425567480 | SRD5A2 | c.573A>T (p.Gly191=) c.351A>T (p.Gly117=) c.318A>T (p.Gly106=) | |
2 | g.31529432T>C | CA1599889 | SRD5A2 | c.573A>G (p.Gly191=) c.351A>G (p.Gly117=) c.318A>G (p.Gly106=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529432T>G | CA425567481 | SRD5A2 | c.573A>C (p.Gly191=) c.351A>C (p.Gly117=) c.318A>C (p.Gly106=) | |
2 | g.31529432T= | CA1242197424 | SRD5A2 | c.573A= (p.Gly191=) c.351A= (p.Gly117=) c.318A= (p.Gly106=) | |
2 | g.31529433C>A | CA346598095 | SRD5A2 | c.572G>T (p.Gly191Val) c.350G>T (p.Gly117Val) c.317G>T (p.Gly106Val) | |
2 | g.31529433C>G | CA346598094 | SRD5A2 | c.572G>C (p.Gly191Ala) c.350G>C (p.Gly117Ala) c.317G>C (p.Gly106Ala) | |
2 | g.31529433C>T | CA346598093 | SRD5A2 | c.572G>A (p.Gly191Glu) c.350G>A (p.Gly117Glu) c.317G>A (p.Gly106Glu) | COSMIC |
2 | g.31529434C>A | CA346598096 | SRD5A2 | c.571G>T (p.Gly191Ter) c.349G>T (p.Gly117Ter) c.316G>T (p.Gly106Ter) | |
2 | g.31529434C>G | CA346598098 | SRD5A2 | c.571G>C (p.Gly191Arg) c.349G>C (p.Gly117Arg) c.316G>C (p.Gly106Arg) | |
2 | g.31529434C>T | CA346598097 | SRD5A2 | c.571G>A (p.Gly191Arg) c.349G>A (p.Gly117Arg) c.316G>A (p.Gly106Arg) | ClinVar COSMIC |
2 | g.31529435A= | CA1242197425 | SRD5A2 | c.570T= (p.Ser190=) c.348T= (p.Ser116=) c.315T= (p.Ser105=) | |
2 | g.31529435A>C | CA425567482 | SRD5A2 | c.570T>G (p.Ser190=) c.348T>G (p.Ser116=) c.315T>G (p.Ser105=) | |
2 | g.31529435A>G | CA425567483 | SRD5A2 | c.570T>C (p.Ser190=) c.348T>C (p.Ser116=) c.315T>C (p.Ser105=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31529435A>T | CA425567484 | SRD5A2 | c.570T>A (p.Ser190=) c.348T>A (p.Ser116=) c.315T>A (p.Ser105=) | |
2 | g.31529436G>A | CA346598099 | SRD5A2 | c.569C>T (p.Ser190Phe) c.347C>T (p.Ser116Phe) c.314C>T (p.Ser105Phe) | gnomAD v4 |
2 | g.31529436G>C | CA346598100 | SRD5A2 | c.569C>G (p.Ser190Cys) c.347C>G (p.Ser116Cys) c.314C>G (p.Ser105Cys) | |
2 | g.31529436G>T | CA346598101 | SRD5A2 | c.569C>A (p.Ser190Tyr) c.347C>A (p.Ser116Tyr) c.314C>A (p.Ser105Tyr) | |
2 | g.31529437A>C | CA346598102 | SRD5A2 | c.568T>G (p.Ser190Ala) c.346T>G (p.Ser116Ala) c.313T>G (p.Ser105Ala) | |
2 | g.31529437A>G | CA346598103 | SRD5A2 | c.568T>C (p.Ser190Pro) c.346T>C (p.Ser116Pro) c.313T>C (p.Ser105Pro) | |
2 | g.31529437A>T | CA346598104 | SRD5A2 | c.568T>A (p.Ser190Thr) c.346T>A (p.Ser116Thr) c.313T>A (p.Ser105Thr) | |
2 | g.31529437_31529452delinsGT | CA2586969026 | SRD5A2 | c.553_568delinsAC (p.Leu185ThrfsTer8) c.331_346delinsAC (p.Leu111ThrfsTer8) c.298_313delinsAC (p.Leu100ThrfsTer8) | |
2 | g.31529438A>C | CA425567485 | SRD5A2 | c.567T>G (p.Val189=) c.345T>G (p.Val115=) c.312T>G (p.Val104=) | |
2 | g.31529438A>G | CA425567486 | SRD5A2 | c.567T>C (p.Val189=) c.345T>C (p.Val115=) c.312T>C (p.Val104=) | |
2 | g.31529438A>T | CA425567487 | SRD5A2 | c.567T>A (p.Val189=) c.345T>A (p.Val115=) c.312T>A (p.Val104=) | |
2 | g.31529439A= | CA1242197426 | SRD5A2 | c.566T= (p.Val189=) c.344T= (p.Val115=) c.311T= (p.Val104=) | |
2 | g.31529439A>C | CA346598105 | SRD5A2 | c.566T>G (p.Val189Gly) c.344T>G (p.Val115Gly) c.311T>G (p.Val104Gly) | |
2 | g.31529439A>G | CA346598106 | SRD5A2 | c.566T>C (p.Val189Ala) c.344T>C (p.Val115Ala) c.311T>C (p.Val104Ala) | dbSNP gnomAD v4 |
2 | g.31529439A>T | CA346598107 | SRD5A2 | c.566T>A (p.Val189Asp) c.344T>A (p.Val115Asp) c.311T>A (p.Val104Asp) | |
2 | g.31529440C>A | CA346598108 | SRD5A2 | c.565G>T (p.Val189Phe) c.343G>T (p.Val115Phe) c.310G>T (p.Val104Phe) | |
2 | g.31529440C= | CA1242197427 | SRD5A2 | c.565G= (p.Val189=) c.343G= (p.Val115=) c.310G= (p.Val104=) | |
2 | g.31529440C>G | CA346598109 | SRD5A2 | c.565G>C (p.Val189Leu) c.343G>C (p.Val115Leu) c.310G>C (p.Val104Leu) | |
2 | g.31529440C>T | CA1599890 | SRD5A2 | c.565G>A (p.Val189Ile) c.343G>A (p.Val115Ile) c.310G>A (p.Val104Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529441del | CA2697547973 | SRD5A2 | c.564del (p.Tyr188Ter) c.342del (p.Tyr114Ter) c.309del (p.Tyr103Ter) | ClinVar |
2 | g.31529441A>C | CA346598111 | SRD5A2 | c.564T>G (p.Tyr188Ter) c.342T>G (p.Tyr114Ter) c.309T>G (p.Tyr103Ter) | |
2 | g.31529441A>G | CA425567488 | SRD5A2 | c.564T>C (p.Tyr188=) c.342T>C (p.Tyr114=) c.309T>C (p.Tyr103=) | |
2 | g.31529441A>T | CA346598110 | SRD5A2 | c.564T>A (p.Tyr188Ter) c.342T>A (p.Tyr114Ter) c.309T>A (p.Tyr103Ter) | |
2 | g.31529442_31529443del | CA2586969027 | SRD5A2 | c.563_564del (p.Tyr188CysfsTer9) c.341_342del (p.Tyr114CysfsTer9) c.308_309del (p.Tyr103CysfsTer9) | gnomAD v4 |
2 | g.31529442T>A | CA346598112 | SRD5A2 | c.563A>T (p.Tyr188Phe) c.341A>T (p.Tyr114Phe) c.308A>T (p.Tyr103Phe) | |
2 | g.31529442T>C | CA346598113 | SRD5A2 | c.563A>G (p.Tyr188Cys) c.341A>G (p.Tyr114Cys) c.308A>G (p.Tyr103Cys) | |
2 | g.31529442T>G | CA346598114 | SRD5A2 | c.563A>C (p.Tyr188Ser) c.341A>C (p.Tyr114Ser) c.308A>C (p.Tyr103Ser) | |
2 | g.31529443A>C | CA346598115 | SRD5A2 | c.562T>G (p.Tyr188Asp) c.340T>G (p.Tyr114Asp) c.307T>G (p.Tyr103Asp) | |
2 | g.31529443A>G | CA346598116 | SRD5A2 | c.562T>C (p.Tyr188His) c.340T>C (p.Tyr114His) c.307T>C (p.Tyr103His) | gnomAD v4 |
2 | g.31529443A>T | CA346598117 | SRD5A2 | c.562T>A (p.Tyr188Asn) c.340T>A (p.Tyr114Asn) c.307T>A (p.Tyr103Asn) | |
2 | g.31529443_31529444delinsAC | CA1242197428 | SRD5A2 | c.561_562delinsGT (p.Thr187=) c.339_340delinsGT (p.Thr113=) c.306_307delinsGT (p.Thr102=) | |
2 | g.31529444del | CA1028962798 | SRD5A2 | c.561del (p.Tyr188MetfsTer?) c.339del (p.Tyr114MetfsTer?) c.306del (p.Tyr103MetfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31529444C>A | CA425567489 | SRD5A2 | c.561G>T (p.Thr187=) c.339G>T (p.Thr113=) c.306G>T (p.Thr102=) | gnomAD v4 |
2 | g.31529444C= | CA1242197429 | SRD5A2 | c.561G= (p.Thr187=) c.339G= (p.Thr113=) c.306G= (p.Thr102=) | |
2 | g.31529444C>G | CA45136320 | SRD5A2 | c.561G>C (p.Thr187=) c.339G>C (p.Thr113=) c.306G>C (p.Thr102=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529444C>T | CA1599891 | SRD5A2 | c.561G>A (p.Thr187=) c.339G>A (p.Thr113=) c.306G>A (p.Thr102=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529445G>A | CA224914 | SRD5A2 | c.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 |
2 | g.31529445G>C | CA346598118 | SRD5A2 | c.560C>G (p.Thr187Arg) c.338C>G (p.Thr113Arg) c.305C>G (p.Thr102Arg) | |
2 | g.31529445G= | CA1242197430 | SRD5A2 | c.560C= (p.Thr187=) c.338C= (p.Thr113=) c.305C= (p.Thr102=) | |
2 | g.31529445G>T | CA346598119 | SRD5A2 | c.560C>A (p.Thr187Lys) c.338C>A (p.Thr113Lys) c.305C>A (p.Thr102Lys) | |
2 | g.31529446T>A | CA346598120 | SRD5A2 | c.559A>T (p.Thr187Ser) c.337A>T (p.Thr113Ser) c.304A>T (p.Thr102Ser) | |
2 | g.31529446T>C | CA346598121 | SRD5A2 | c.559A>G (p.Thr187Ala) c.337A>G (p.Thr113Ala) c.304A>G (p.Thr102Ala) | |
2 | g.31529446T>G | CA346598122 | SRD5A2 | c.559A>C (p.Thr187Pro) c.337A>C (p.Thr113Pro) c.304A>C (p.Thr102Pro) | |
2 | g.31529447A>C | CA346598123 | SRD5A2 | c.558T>G (p.Phe186Leu) c.336T>G (p.Phe112Leu) c.303T>G (p.Phe101Leu) | |
2 | g.31529447A>G | CA425567490 | SRD5A2 | c.558T>C (p.Phe186=) c.336T>C (p.Phe112=) c.303T>C (p.Phe101=) | |
2 | g.31529447A>T | CA346598124 | SRD5A2 | c.558T>A (p.Phe186Leu) c.336T>A (p.Phe112Leu) c.303T>A (p.Phe101Leu) | COSMIC |
2 | g.31529448A>C | CA346598125 | SRD5A2 | c.557T>G (p.Phe186Cys) c.335T>G (p.Phe112Cys) c.302T>G (p.Phe101Cys) | |
2 | g.31529448A>G | CA346598126 | SRD5A2 | c.557T>C (p.Phe186Ser) c.335T>C (p.Phe112Ser) c.302T>C (p.Phe101Ser) | COSMIC |
2 | g.31529448A>T | CA346598127 | SRD5A2 | c.557T>A (p.Phe186Tyr) c.335T>A (p.Phe112Tyr) c.302T>A (p.Phe101Tyr) | |
2 | g.31529449A>C | CA346598128 | SRD5A2 | c.556T>G (p.Phe186Val) c.334T>G (p.Phe112Val) c.301T>G (p.Phe101Val) | |
2 | g.31529449A>G | CA346598129 | SRD5A2 | c.556T>C (p.Phe186Leu) c.334T>C (p.Phe112Leu) c.301T>C (p.Phe101Leu) | |
2 | g.31529449A>T | CA346598130 | SRD5A2 | c.556T>A (p.Phe186Ile) c.334T>A (p.Phe112Ile) c.301T>A (p.Phe101Ile) | |
2 | g.31529450C>A | CA346598131 | SRD5A2 | c.555G>T (p.Leu185Phe) c.333G>T (p.Leu111Phe) c.300G>T (p.Leu100Phe) | |
2 | g.31529450C>G | CA346598132 | SRD5A2 | c.555G>C (p.Leu185Phe) c.333G>C (p.Leu111Phe) c.300G>C (p.Leu100Phe) | |
2 | g.31529450C>T | CA425567491 | SRD5A2 | c.555G>A (p.Leu185=) c.333G>A (p.Leu111=) c.300G>A (p.Leu100=) | |
2 | g.31529451A= | CA1242197431 | SRD5A2 | c.554T= (p.Leu185=) c.332T= (p.Leu111=) c.299T= (p.Leu100=) | |
2 | g.31529451A>C | CA346598133 | SRD5A2 | c.554T>G (p.Leu185Trp) c.332T>G (p.Leu111Trp) c.299T>G (p.Leu100Trp) | |
2 | g.31529451A>G | CA1599892 | SRD5A2 | c.554T>C (p.Leu185Ser) c.332T>C (p.Leu111Ser) c.299T>C (p.Leu100Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529451A>T | CA346598134 | SRD5A2 | c.554T>A (p.Leu185Ter) c.332T>A (p.Leu111Ter) c.299T>A (p.Leu100Ter) | |
2 | g.31529452A>C | CA346598135 | SRD5A2 | c.553T>G (p.Leu185Val) c.331T>G (p.Leu111Val) c.298T>G (p.Leu100Val) | |
2 | g.31529452A>G | CA425567492 | SRD5A2 | c.553T>C (p.Leu185=) c.331T>C (p.Leu111=) c.298T>C (p.Leu100=) | |
2 | g.31529452A>T | CA346598136 | SRD5A2 | c.553T>A (p.Leu185Met) c.331T>A (p.Leu111Met) c.298T>A (p.Leu100Met) | |
2 | g.31529453G>A | CA425567493 | SRD5A2 | c.552C>T (p.Gly184=) c.330C>T (p.Gly110=) c.297C>T (p.Gly99=) | gnomAD v4 |
2 | g.31529453G>C | CA425567494 | SRD5A2 | c.552C>G (p.Gly184=) c.330C>G (p.Gly110=) c.297C>G (p.Gly99=) | gnomAD v4 |
2 | g.31529453G>T | CA425567495 | SRD5A2 | c.552C>A (p.Gly184=) c.330C>A (p.Gly110=) c.297C>A (p.Gly99=) | dbSNP |