Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.31533627_31533629delinsGAAT | CA2586969031 | SRD5A2 | c.419_421delinsATTC (p.Trp140TyrfsTer8) c.197_199delinsATTC (p.Trp66TyrfsTer8) c.164_166delinsATTC (p.Trp55TyrfsTer8) | |
2 | g.31533628C>A | CA1599946 | SRD5A2 | c.420G>T (p.Trp140Cys) c.198G>T (p.Trp66Cys) c.165G>T (p.Trp55Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533628C= | CA1242199317 | SRD5A2 | c.420G= (p.Trp140=) c.198G= (p.Trp66=) c.165G= (p.Trp55=) | |
2 | g.31533628C>G | CA346598454 | SRD5A2 | c.420G>C (p.Trp140Cys) c.198G>C (p.Trp66Cys) c.165G>C (p.Trp55Cys) | |
2 | g.31533628C>T | CA346598455 | SRD5A2 | c.420G>A (p.Trp140Ter) c.198G>A (p.Trp66Ter) c.165G>A (p.Trp55Ter) | dbSNP |
2 | g.31533629C>A | CA346598458 | SRD5A2 | c.419G>T (p.Trp140Leu) c.197G>T (p.Trp66Leu) c.164G>T (p.Trp55Leu) | |
2 | g.31533629C>G | CA346598457 | SRD5A2 | c.419G>C (p.Trp140Ser) c.197G>C (p.Trp66Ser) c.164G>C (p.Trp55Ser) | |
2 | g.31533629C>T | CA346598456 | SRD5A2 | c.419G>A (p.Trp140Ter) c.197G>A (p.Trp66Ter) c.164G>A (p.Trp55Ter) | gnomAD v4 |
2 | g.31533629_31533630delinsCA | CA1242199318 | SRD5A2 | c.418_419delinsTG (p.Trp140=) c.196_197delinsTG (p.Trp66=) c.163_164delinsTG (p.Trp55=) | |
2 | g.31533629_31533630insGAAT | CA2832528868 | SRD5A2 | c.418_419insATTC (p.Trp140TyrfsTer9) c.196_197insATTC (p.Trp66TyrfsTer9) c.163_164insATTC (p.Trp55TyrfsTer9) | |
2 | g.31533630del | CA767761623 | SRD5A2 | c.418del (p.Trp140GlyfsTer20) c.418del (p.Trp140GlyfsTer?) c.196del (p.Trp66GlyfsTer20) c.163del (p.Trp55GlyfsTer20) | ClinVar dbSNP |
2 | g.31533630A>C | CA346598459 | SRD5A2 | c.418T>G (p.Trp140Gly) c.196T>G (p.Trp66Gly) c.163T>G (p.Trp55Gly) | |
2 | g.31533630A>G | CA346598460 | SRD5A2 | c.418T>C (p.Trp140Arg) c.196T>C (p.Trp66Arg) c.163T>C (p.Trp55Arg) | |
2 | g.31533630A>T | CA346598461 | SRD5A2 | c.418T>A (p.Trp140Arg) c.196T>A (p.Trp66Arg) c.163T>A (p.Trp55Arg) | |
2 | g.31533631C>A | CA425568237 | SRD5A2 | c.417G>T (p.Gly139=) c.195G>T (p.Gly65=) c.162G>T (p.Gly54=) | |
2 | g.31533631C>G | CA425568239 | SRD5A2 | c.417G>C (p.Gly139=) c.195G>C (p.Gly65=) c.162G>C (p.Gly54=) | |
2 | g.31533631C>T | CA425568240 | SRD5A2 | c.417G>A (p.Gly139=) c.195G>A (p.Gly65=) c.162G>A (p.Gly54=) | gnomAD v4 |
2 | g.31533632C>A | CA346598462 | SRD5A2 | c.416G>T (p.Gly139Val) c.194G>T (p.Gly65Val) c.161G>T (p.Gly54Val) | |
2 | g.31533632C>G | CA346598463 | SRD5A2 | c.416G>C (p.Gly139Ala) c.194G>C (p.Gly65Ala) c.161G>C (p.Gly54Ala) | |
2 | g.31533632C>T | CA346598464 | SRD5A2 | c.416G>A (p.Gly139Glu) c.194G>A (p.Gly65Glu) c.161G>A (p.Gly54Glu) | |
2 | g.31533633C>A | CA346598465 | SRD5A2 | c.415G>T (p.Gly139Trp) c.193G>T (p.Gly65Trp) c.160G>T (p.Gly54Trp) | gnomAD v4 |
2 | g.31533633C>G | CA346598466 | SRD5A2 | c.415G>C (p.Gly139Arg) c.193G>C (p.Gly65Arg) c.160G>C (p.Gly54Arg) | |
2 | g.31533633C>T | CA346598467 | SRD5A2 | c.415G>A (p.Gly139Arg) c.193G>A (p.Gly65Arg) c.160G>A (p.Gly54Arg) | |
2 | g.31533634A>C | CA346598468 | SRD5A2 | c.414T>G (p.Asp138Glu) c.192T>G (p.Asp64Glu) c.159T>G (p.Asp53Glu) | |
2 | g.31533634A>G | CA425568245 | SRD5A2 | c.414T>C (p.Asp138=) c.192T>C (p.Asp64=) c.159T>C (p.Asp53=) | gnomAD v4 |
2 | g.31533634A>T | CA346598469 | SRD5A2 | c.414T>A (p.Asp138Glu) c.192T>A (p.Asp64Glu) c.159T>A (p.Asp53Glu) | |
2 | g.31533635T>A | CA346598472 | SRD5A2 | c.413A>T (p.Asp138Val) c.191A>T (p.Asp64Val) c.158A>T (p.Asp53Val) | dbSNP |
2 | g.31533635T>C | CA346598471 | SRD5A2 | c.413A>G (p.Asp138Gly) c.191A>G (p.Asp64Gly) c.158A>G (p.Asp53Gly) | |
2 | g.31533635T>G | CA346598470 | SRD5A2 | c.413A>C (p.Asp138Ala) c.191A>C (p.Asp64Ala) c.158A>C (p.Asp53Ala) | |
2 | g.31533635T= | CA1242199319 | SRD5A2 | c.413A= (p.Asp138=) c.191A= (p.Asp64=) c.158A= (p.Asp53=) | |
2 | g.31533636C>A | CA346598473 | SRD5A2 | c.412G>T (p.Asp138Tyr) c.190G>T (p.Asp64Tyr) c.157G>T (p.Asp53Tyr) | |
2 | g.31533636C>G | CA346598475 | SRD5A2 | c.412G>C (p.Asp138His) c.190G>C (p.Asp64His) c.157G>C (p.Asp53His) | |
2 | g.31533636C>T | CA346598474 | SRD5A2 | c.412G>A (p.Asp138Asn) c.190G>A (p.Asp64Asn) c.157G>A (p.Asp53Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.31533637A>C | CA425568250 | SRD5A2 | c.411T>G (p.Pro137=) c.189T>G (p.Pro63=) c.156T>G (p.Pro52=) | |
2 | g.31533637A>G | CA425568252 | SRD5A2 | c.411T>C (p.Pro137=) c.189T>C (p.Pro63=) c.156T>C (p.Pro52=) | |
2 | g.31533637A>T | CA425568253 | SRD5A2 | c.411T>A (p.Pro137=) c.189T>A (p.Pro63=) c.156T>A (p.Pro52=) | |
2 | g.31533638G>A | CA346598476 | SRD5A2 | c.410C>T (p.Pro137Leu) c.188C>T (p.Pro63Leu) c.155C>T (p.Pro52Leu) | |
2 | g.31533638G>C | CA346598477 | SRD5A2 | c.410C>G (p.Pro137Arg) c.188C>G (p.Pro63Arg) c.155C>G (p.Pro52Arg) | |
2 | g.31533638G>T | CA346598478 | SRD5A2 | c.410C>A (p.Pro137His) c.188C>A (p.Pro63His) c.155C>A (p.Pro52His) | |
2 | g.31533639G>A | CA346598479 | SRD5A2 | c.409C>T (p.Pro137Ser) c.187C>T (p.Pro63Ser) c.154C>T (p.Pro52Ser) | |
2 | g.31533639G>C | CA346598480 | SRD5A2 | c.409C>G (p.Pro137Ala) c.187C>G (p.Pro63Ala) c.154C>G (p.Pro52Ala) | |
2 | g.31533639G>T | CA346598481 | SRD5A2 | c.409C>A (p.Pro137Thr) c.187C>A (p.Pro63Thr) c.154C>A (p.Pro52Thr) | |
2 | g.31533640G>A | CA425568258 | SRD5A2 | c.408C>T (p.Tyr136=) c.186C>T (p.Tyr62=) c.153C>T (p.Tyr51=) | ClinVar gnomAD v4 |
2 | g.31533640G>C | CA346598482 | SRD5A2 | c.408C>G (p.Tyr136Ter) c.186C>G (p.Tyr62Ter) c.153C>G (p.Tyr51Ter) | gnomAD v4 |
2 | g.31533640G= | CA1242199320 | SRD5A2 | c.408C= (p.Tyr136=) c.186C= (p.Tyr62=) c.153C= (p.Tyr51=) | |
2 | g.31533640G>T | CA346598483 | SRD5A2 | c.408C>A (p.Tyr136Ter) c.186C>A (p.Tyr62Ter) c.153C>A (p.Tyr51Ter) | dbSNP |
2 | g.31533641T>A | CA346598484 | SRD5A2 | c.407A>T (p.Tyr136Phe) c.185A>T (p.Tyr62Phe) c.152A>T (p.Tyr51Phe) | |
2 | g.31533641T>C | CA346598485 | SRD5A2 | c.407A>G (p.Tyr136Cys) c.185A>G (p.Tyr62Cys) c.152A>G (p.Tyr51Cys) | |
2 | g.31533641T>G | CA346598486 | SRD5A2 | c.407A>C (p.Tyr136Ser) c.185A>C (p.Tyr62Ser) c.152A>C (p.Tyr51Ser) | |
2 | g.31533642A>C | CA346598489 | SRD5A2 | c.406T>G (p.Tyr136Asp) c.184T>G (p.Tyr62Asp) c.151T>G (p.Tyr51Asp) | |
2 | g.31533642A>G | CA346598488 | SRD5A2 | c.406T>C (p.Tyr136His) c.184T>C (p.Tyr62His) c.151T>C (p.Tyr51His) | |
2 | g.31533642A>T | CA346598487 | SRD5A2 | c.406T>A (p.Tyr136Asn) c.184T>A (p.Tyr62Asn) c.151T>A (p.Tyr51Asn) | |
2 | g.31533643T>A | CA346598490 | SRD5A2 | c.405A>T (p.Glu135Asp) c.183A>T (p.Glu61Asp) c.150A>T (p.Glu50Asp) | |
2 | g.31533643T>C | CA425568264 | SRD5A2 | c.405A>G (p.Glu135=) c.183A>G (p.Glu61=) c.150A>G (p.Glu50=) | |
2 | g.31533643T>G | CA346598491 | SRD5A2 | c.405A>C (p.Glu135Asp) c.183A>C (p.Glu61Asp) c.150A>C (p.Glu50Asp) | |
2 | g.31533644T>A | CA346598492 | SRD5A2 | c.404A>T (p.Glu135Val) c.182A>T (p.Glu61Val) c.149A>T (p.Glu50Val) | |
2 | g.31533644T>C | CA346598493 | SRD5A2 | c.404A>G (p.Glu135Gly) c.182A>G (p.Glu61Gly) c.149A>G (p.Glu50Gly) | |
2 | g.31533644T>G | CA346598494 | SRD5A2 | c.404A>C (p.Glu135Ala) c.182A>C (p.Glu61Ala) c.149A>C (p.Glu50Ala) | |
2 | g.31533645C>A | CA346598495 | SRD5A2 | c.403G>T (p.Glu135Ter) c.181G>T (p.Glu61Ter) c.148G>T (p.Glu50Ter) | |
2 | g.31533645C>G | CA346598496 | SRD5A2 | c.403G>C (p.Glu135Gln) c.181G>C (p.Glu61Gln) c.148G>C (p.Glu50Gln) | |
2 | g.31533645C>T | CA346598497 | SRD5A2 | c.403G>A (p.Glu135Lys) c.181G>A (p.Glu61Lys) c.148G>A (p.Glu50Lys) | ClinVar gnomAD v4 |
2 | g.31533646A= | CA1242199321 | SRD5A2 | c.402T= (p.Ala134=) c.180T= (p.Ala60=) c.147T= (p.Ala49=) | |
2 | g.31533646A>C | CA425568269 | SRD5A2 | c.402T>G (p.Ala134=) c.180T>G (p.Ala60=) c.147T>G (p.Ala49=) | |
2 | g.31533646A>G | CA425568271 | SRD5A2 | c.402T>C (p.Ala134=) c.180T>C (p.Ala60=) c.147T>C (p.Ala49=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533646A>T | CA425568272 | SRD5A2 | c.402T>A (p.Ala134=) c.180T>A (p.Ala60=) c.147T>A (p.Ala49=) | |
2 | g.31533647G>A | CA346598498 | SRD5A2 | c.401C>T (p.Ala134Val) c.179C>T (p.Ala60Val) c.146C>T (p.Ala49Val) | gnomAD v4 |
2 | g.31533647G>C | CA346598499 | SRD5A2 | c.401C>G (p.Ala134Gly) c.179C>G (p.Ala60Gly) c.146C>G (p.Ala49Gly) | |
2 | g.31533647G>T | CA346598500 | SRD5A2 | c.401C>A (p.Ala134Asp) c.179C>A (p.Ala60Asp) c.146C>A (p.Ala49Asp) | |
2 | g.31533648C>A | CA346598503 | SRD5A2 | c.400G>T (p.Ala134Ser) c.178G>T (p.Ala60Ser) c.145G>T (p.Ala49Ser) | gnomAD v4 |
2 | g.31533648C>G | CA346598502 | SRD5A2 | c.400G>C (p.Ala134Pro) c.178G>C (p.Ala60Pro) c.145G>C (p.Ala49Pro) | |
2 | g.31533648C>T | CA346598501 | SRD5A2 | c.400G>A (p.Ala134Thr) c.178G>A (p.Ala60Thr) c.145G>A (p.Ala49Thr) | |
2 | g.31533649A>C | CA346598504 | SRD5A2 | c.399T>G (p.Cys133Trp) c.177T>G (p.Cys59Trp) c.144T>G (p.Cys48Trp) | |
2 | g.31533649A>G | CA425568278 | SRD5A2 | c.399T>C (p.Cys133=) c.177T>C (p.Cys59=) c.144T>C (p.Cys48=) | gnomAD v4 |
2 | g.31533649A>T | CA346598505 | SRD5A2 | c.399T>A (p.Cys133Ter) c.177T>A (p.Cys59Ter) c.144T>A (p.Cys48Ter) | |
2 | g.31533650C>A | CA1599948 | SRD5A2 | c.398G>T (p.Cys133Phe) c.176G>T (p.Cys59Phe) c.143G>T (p.Cys48Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533650C= | CA1242199322 | SRD5A2 | c.398G= (p.Cys133=) c.176G= (p.Cys59=) c.143G= (p.Cys48=) | |
2 | g.31533650C>G | CA346598506 | SRD5A2 | c.398G>C (p.Cys133Ser) c.176G>C (p.Cys59Ser) c.143G>C (p.Cys48Ser) | |
2 | g.31533650C>T | CA1599947 | SRD5A2 | c.398G>A (p.Cys133Tyr) c.176G>A (p.Cys59Tyr) c.143G>A (p.Cys48Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533651A>C | CA346598507 | SRD5A2 | c.397T>G (p.Cys133Gly) c.175T>G (p.Cys59Gly) c.142T>G (p.Cys48Gly) | gnomAD v4 |
2 | g.31533651A>G | CA346598508 | SRD5A2 | c.397T>C (p.Cys133Arg) c.175T>C (p.Cys59Arg) c.142T>C (p.Cys48Arg) | gnomAD v4 |
2 | g.31533651A>T | CA346598509 | SRD5A2 | c.397T>A (p.Cys133Ser) c.175T>A (p.Cys59Ser) c.142T>A (p.Cys48Ser) | |
2 | g.31533652G>A | CA425568283 | SRD5A2 | c.396C>T (p.Tyr132=) c.174C>T (p.Tyr58=) c.141C>T (p.Tyr47=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533652G>C | CA346598510 | SRD5A2 | c.396C>G (p.Tyr132Ter) c.174C>G (p.Tyr58Ter) c.141C>G (p.Tyr47Ter) | |
2 | g.31533652G= | CA1242199323 | SRD5A2 | c.396C= (p.Tyr132=) c.174C= (p.Tyr58=) c.141C= (p.Tyr47=) | |
2 | g.31533652G>T | CA346598511 | SRD5A2 | c.396C>A (p.Tyr132Ter) c.174C>A (p.Tyr58Ter) c.141C>A (p.Tyr47Ter) | |
2 | g.31533653T>A | CA346598512 | SRD5A2 | c.395A>T (p.Tyr132Phe) c.173A>T (p.Tyr58Phe) c.140A>T (p.Tyr47Phe) | |
2 | g.31533653T>C | CA346598513 | SRD5A2 | c.395A>G (p.Tyr132Cys) c.173A>G (p.Tyr58Cys) c.140A>G (p.Tyr47Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533653T>G | CA346598514 | SRD5A2 | c.395A>C (p.Tyr132Ser) c.173A>C (p.Tyr58Ser) c.140A>C (p.Tyr47Ser) | |
2 | g.31533653T= | CA1242199324 | SRD5A2 | c.395A= (p.Tyr132=) c.173A= (p.Tyr58=) c.140A= (p.Tyr47=) | |
2 | g.31533654A>C | CA346598517 | SRD5A2 | c.394T>G (p.Tyr132Asp) c.172T>G (p.Tyr58Asp) c.139T>G (p.Tyr47Asp) | |
2 | g.31533654A>G | CA346598515 | SRD5A2 | c.394T>C (p.Tyr132His) c.172T>C (p.Tyr58His) c.139T>C (p.Tyr47His) | |
2 | g.31533654A>T | CA346598516 | SRD5A2 | c.394T>A (p.Tyr132Asn) c.172T>A (p.Tyr58Asn) c.139T>A (p.Tyr47Asn) | |
2 | g.31533655A>C | CA346598518 | SRD5A2 | c.393T>G (p.Ile131Met) c.171T>G (p.Ile57Met) c.138T>G (p.Ile46Met) | |
2 | g.31533655A>G | CA425568290 | SRD5A2 | c.393T>C (p.Ile131=) c.171T>C (p.Ile57=) c.138T>C (p.Ile46=) | |
2 | g.31533655A>T | CA425568291 | SRD5A2 | c.393T>A (p.Ile131=) c.171T>A (p.Ile57=) c.138T>A (p.Ile46=) | |
2 | g.31533656A>C | CA346598519 | SRD5A2 | c.392T>G (p.Ile131Ser) c.170T>G (p.Ile57Ser) c.137T>G (p.Ile46Ser) | |
2 | g.31533656A>G | CA346598520 | SRD5A2 | c.392T>C (p.Ile131Thr) c.170T>C (p.Ile57Thr) c.137T>C (p.Ile46Thr) | |
2 | g.31533656A>T | CA346598521 | SRD5A2 | c.392T>A (p.Ile131Asn) c.170T>A (p.Ile57Asn) c.137T>A (p.Ile46Asn) | |
2 | g.31533657T>A | CA346598522 | SRD5A2 | c.391A>T (p.Ile131Phe) c.169A>T (p.Ile57Phe) c.136A>T (p.Ile46Phe) | |
2 | g.31533657T>C | CA346598523 | SRD5A2 | c.391A>G (p.Ile131Val) c.169A>G (p.Ile57Val) c.136A>G (p.Ile46Val) | |
2 | g.31533657T>G | CA346598524 | SRD5A2 | c.391A>C (p.Ile131Leu) c.169A>C (p.Ile57Leu) c.136A>C (p.Ile46Leu) | |
2 | g.31533658C>A | CA425568297 | SRD5A2 | c.390G>T (p.Leu130=) c.168G>T (p.Leu56=) c.135G>T (p.Leu45=) | |
2 | g.31533658C>G | CA425568298 | SRD5A2 | c.390G>C (p.Leu130=) c.168G>C (p.Leu56=) c.135G>C (p.Leu45=) | gnomAD v4 |
2 | g.31533658C>T | CA425568300 | SRD5A2 | c.390G>A (p.Leu130=) c.168G>A (p.Leu56=) c.135G>A (p.Leu45=) | |
2 | g.31533658_31533673delinsCAGATAGTAGCCTTGA | CA1242199325 | SRD5A2 | c.375_390delinsTCAAGGCTACTATCTG (p.Leu125=) c.153_168delinsTCAAGGCTACTATCTG (p.Leu51=) c.120_135delinsTCAAGGCTACTATCTG (p.Leu40=) | |
2 | g.31533659A>C | CA346598525 | SRD5A2 | c.389T>G (p.Leu130Arg) c.167T>G (p.Leu56Arg) c.134T>G (p.Leu45Arg) | |
2 | g.31533659A>G | CA346598526 | SRD5A2 | c.389T>C (p.Leu130Pro) c.167T>C (p.Leu56Pro) c.134T>C (p.Leu45Pro) | |
2 | g.31533659A>T | CA346598527 | SRD5A2 | c.389T>A (p.Leu130Gln) c.167T>A (p.Leu56Gln) c.134T>A (p.Leu45Gln) | |
2 | g.31533661_31533675del | CA1242199326 | SRD5A2 | c.375_389del (p.Gln126_Leu130del) c.153_167del (p.Gln52_Leu56del) c.120_134del (p.Gln41_Leu45del) | dbSNP |
2 | g.31533660G>A | CA425568303 | SRD5A2 | c.388C>T (p.Leu130=) c.166C>T (p.Leu56=) c.133C>T (p.Leu45=) | |
2 | g.31533660G>C | CA1599949 | SRD5A2 | c.388C>G (p.Leu130Val) c.166C>G (p.Leu56Val) c.133C>G (p.Leu45Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533660G= | CA1242199327 | SRD5A2 | c.388C= (p.Leu130=) c.166C= (p.Leu56=) c.133C= (p.Leu45=) | |
2 | g.31533660G>T | CA346598528 | SRD5A2 | c.388C>A (p.Leu130Met) c.166C>A (p.Leu56Met) c.133C>A (p.Leu45Met) | gnomAD v4 |
2 | g.31533661A>C | CA346598530 | SRD5A2 | c.387T>G (p.Tyr129Ter) c.165T>G (p.Tyr55Ter) c.132T>G (p.Tyr44Ter) | |
2 | g.31533661A>G | CA425568306 | SRD5A2 | c.387T>C (p.Tyr129=) c.165T>C (p.Tyr55=) c.132T>C (p.Tyr44=) | |
2 | g.31533661A>T | CA346598529 | SRD5A2 | c.387T>A (p.Tyr129Ter) c.165T>A (p.Tyr55Ter) c.132T>A (p.Tyr44Ter) | |
2 | g.31533662T>A | CA346598531 | SRD5A2 | c.386A>T (p.Tyr129Phe) c.164A>T (p.Tyr55Phe) c.131A>T (p.Tyr44Phe) | |
2 | g.31533662T>C | CA1599950 | SRD5A2 | c.386A>G (p.Tyr129Cys) c.164A>G (p.Tyr55Cys) c.131A>G (p.Tyr44Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533662T>G | CA45136778 | SRD5A2 | c.386A>C (p.Tyr129Ser) c.164A>C (p.Tyr55Ser) c.131A>C (p.Tyr44Ser) | dbSNP gnomAD v4 |
2 | g.31533662T= | CA1242199328 | SRD5A2 | c.386A= (p.Tyr129=) c.164A= (p.Tyr55=) c.131A= (p.Tyr44=) | |
2 | g.31533663A= | CA1242199329 | SRD5A2 | c.385T= (p.Tyr129=) c.163T= (p.Tyr55=) c.130T= (p.Tyr44=) | |
2 | g.31533663A>C | CA346598532 | SRD5A2 | c.385T>G (p.Tyr129Asp) c.163T>G (p.Tyr55Asp) c.130T>G (p.Tyr44Asp) | ClinVar dbSNP |
2 | g.31533663A>G | CA346598533 | SRD5A2 | c.385T>C (p.Tyr129His) c.163T>C (p.Tyr55His) c.130T>C (p.Tyr44His) | |
2 | g.31533663A>T | CA346598534 | SRD5A2 | c.385T>A (p.Tyr129Asn) c.163T>A (p.Tyr55Asn) c.130T>A (p.Tyr44Asn) | COSMIC |
2 | g.31533664G>A | CA425568311 | SRD5A2 | c.384C>T (p.Tyr128=) c.162C>T (p.Tyr54=) c.129C>T (p.Tyr43=) | |
2 | g.31533664G>C | CA346598535 | SRD5A2 | c.384C>G (p.Tyr128Ter) c.162C>G (p.Tyr54Ter) c.129C>G (p.Tyr43Ter) | ClinVar dbSNP |
2 | g.31533664G= | CA1242199330 | SRD5A2 | c.384C= (p.Tyr128=) c.162C= (p.Tyr54=) c.129C= (p.Tyr43=) | |
2 | g.31533664G>T | CA346598536 | SRD5A2 | c.384C>A (p.Tyr128Ter) c.162C>A (p.Tyr54Ter) c.129C>A (p.Tyr43Ter) | gnomAD v4 |
2 | g.31533664_31533665delinsTC | CA2580066367 | SRD5A2 | c.383_384delinsGA (p.Tyr128Ter) c.161_162delinsGA (p.Tyr54Ter) c.128_129delinsGA (p.Tyr43Ter) | ClinVar |
2 | g.31533664_31533672del | CA2749375123 | SRD5A2 | c.376_384del (p.Gln126_Tyr128del) c.154_162del (p.Gln52_Tyr54del) c.121_129del (p.Gln41_Tyr43del) | |
2 | g.31533665T>A | CA346598537 | SRD5A2 | c.383A>T (p.Tyr128Phe) c.161A>T (p.Tyr54Phe) c.128A>T (p.Tyr43Phe) | |
2 | g.31533665T>C | CA1599951 | SRD5A2 | c.383A>G (p.Tyr128Cys) c.161A>G (p.Tyr54Cys) c.128A>G (p.Tyr43Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533665T>G | CA346598538 | SRD5A2 | c.383A>C (p.Tyr128Ser) c.161A>C (p.Tyr54Ser) c.128A>C (p.Tyr43Ser) | |
2 | g.31533665T= | CA1242199331 | SRD5A2 | c.383A= (p.Tyr128=) c.161A= (p.Tyr54=) c.128A= (p.Tyr43=) | |
2 | g.31533666A>C | CA346598539 | SRD5A2 | c.382T>G (p.Tyr128Asp) c.160T>G (p.Tyr54Asp) c.127T>G (p.Tyr43Asp) | |
2 | g.31533666A>G | CA346598540 | SRD5A2 | c.382T>C (p.Tyr128His) c.160T>C (p.Tyr54His) c.127T>C (p.Tyr43His) | |
2 | g.31533666A>T | CA346598541 | SRD5A2 | c.382T>A (p.Tyr128Asn) c.160T>A (p.Tyr54Asn) c.127T>A (p.Tyr43Asn) | ClinVar |
2 | g.31533667G>A | CA425568320 | SRD5A2 | c.381C>T (p.Gly127=) c.159C>T (p.Gly53=) c.126C>T (p.Gly42=) | |
2 | g.31533667G>C | CA425568318 | SRD5A2 | c.381C>G (p.Gly127=) c.159C>G (p.Gly53=) c.126C>G (p.Gly42=) | |
2 | g.31533667G>T | CA425568317 | SRD5A2 | c.381C>A (p.Gly127=) c.159C>A (p.Gly53=) c.126C>A (p.Gly42=) | gnomAD v4 |
2 | g.31533668C>A | CA346598544 | SRD5A2 | c.380G>T (p.Gly127Val) c.158G>T (p.Gly53Val) c.125G>T (p.Gly42Val) | gnomAD v4 |
2 | g.31533668C>G | CA346598543 | SRD5A2 | c.380G>C (p.Gly127Ala) c.158G>C (p.Gly53Ala) c.125G>C (p.Gly42Ala) | |
2 | g.31533668C>T | CA346598542 | SRD5A2 | c.380G>A (p.Gly127Asp) c.158G>A (p.Gly53Asp) c.125G>A (p.Gly42Asp) | COSMIC |
2 | g.31533669C>A | CA346598545 | SRD5A2 | c.379G>T (p.Gly127Cys) c.157G>T (p.Gly53Cys) c.124G>T (p.Gly42Cys) | gnomAD v4 |
2 | g.31533669C>G | CA346598546 | SRD5A2 | c.379G>C (p.Gly127Arg) c.157G>C (p.Gly53Arg) c.124G>C (p.Gly42Arg) | |
2 | g.31533669C>T | CA346598547 | SRD5A2 | c.379G>A (p.Gly127Ser) c.157G>A (p.Gly53Ser) c.124G>A (p.Gly42Ser) | COSMIC |
2 | g.31533670T>A | CA346598548 | SRD5A2 | c.378A>T (p.Gln126His) c.156A>T (p.Gln52His) c.123A>T (p.Gln41His) | |
2 | g.31533670T>C | CA425568325 | SRD5A2 | c.378A>G (p.Gln126=) c.156A>G (p.Gln52=) c.123A>G (p.Gln41=) | |
2 | g.31533670T>G | CA346598549 | SRD5A2 | c.378A>C (p.Gln126His) c.156A>C (p.Gln52His) c.123A>C (p.Gln41His) | |
2 | g.31533671T>A | CA346598550 | SRD5A2 | c.377A>T (p.Gln126Leu) c.155A>T (p.Gln52Leu) c.122A>T (p.Gln41Leu) | |
2 | g.31533671T>C | CA1599952 | SRD5A2 | c.377A>G (p.Gln126Arg) c.155A>G (p.Gln52Arg) c.122A>G (p.Gln41Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533671T>G | CA346598551 | SRD5A2 | c.377A>C (p.Gln126Pro) c.155A>C (p.Gln52Pro) c.122A>C (p.Gln41Pro) | |
2 | g.31533671T= | CA1242199332 | SRD5A2 | c.377A= (p.Gln126=) c.155A= (p.Gln52=) c.122A= (p.Gln41=) | |
2 | g.31533672G>A | CA346598552 | SRD5A2 | c.376C>T (p.Gln126Ter) c.154C>T (p.Gln52Ter) c.121C>T (p.Gln41Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533672G>C | CA346598553 | SRD5A2 | c.376C>G (p.Gln126Glu) c.154C>G (p.Gln52Glu) c.121C>G (p.Gln41Glu) | |
2 | g.31533672G= | CA1242199333 | SRD5A2 | c.376C= (p.Gln126=) c.154C= (p.Gln52=) c.121C= (p.Gln41=) | |
2 | g.31533672G>T | CA346598554 | SRD5A2 | c.376C>A (p.Gln126Lys) c.154C>A (p.Gln52Lys) c.121C>A (p.Gln41Lys) | gnomAD v4 |
2 | g.31533673A>C | CA425568330 | SRD5A2 | c.375T>G (p.Leu125=) c.153T>G (p.Leu51=) c.120T>G (p.Leu40=) | |
2 | g.31533673A>G | CA425568332 | SRD5A2 | c.375T>C (p.Leu125=) c.153T>C (p.Leu51=) c.120T>C (p.Leu40=) | |
2 | g.31533673A>T | CA425568331 | SRD5A2 | c.375T>A (p.Leu125=) c.153T>A (p.Leu51=) c.120T>A (p.Leu40=) | |
2 | g.31533674A>C | CA346598555 | SRD5A2 | c.374T>G (p.Leu125Arg) c.152T>G (p.Leu51Arg) c.119T>G (p.Leu40Arg) | |
2 | g.31533674A>G | CA346598556 | SRD5A2 | c.374T>C (p.Leu125Pro) c.152T>C (p.Leu51Pro) c.119T>C (p.Leu40Pro) | gnomAD v4 |
2 | g.31533674A>T | CA346598557 | SRD5A2 | c.374T>A (p.Leu125His) c.152T>A (p.Leu51His) c.119T>A (p.Leu40His) | |
2 | g.31533675G>A | CA346598559 | SRD5A2 | c.373C>T (p.Leu125Phe) c.151C>T (p.Leu51Phe) c.118C>T (p.Leu40Phe) | |
2 | g.31533675G>C | CA346598560 | SRD5A2 | c.373C>G (p.Leu125Val) c.151C>G (p.Leu51Val) c.118C>G (p.Leu40Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533675G= | CA1242199334 | SRD5A2 | c.373C= (p.Leu125=) c.151C= (p.Leu51=) c.118C= (p.Leu40=) | |
2 | g.31533675G>T | CA346598558 | SRD5A2 | c.373C>A (p.Leu125Ile) c.151C>A (p.Leu51Ile) c.118C>A (p.Leu40Ile) | gnomAD v4 |
2 | g.31533676del | CA2658499248 | SRD5A2 | c.373del (p.Leu125PhefsTer6) c.151del (p.Leu51PhefsTer6) c.118del (p.Leu40PhefsTer6) | gnomAD v4 |
2 | g.31533676G>A | CA425568337 | SRD5A2 | c.372C>T (p.Val124=) c.150C>T (p.Val50=) c.117C>T (p.Val39=) | dbSNP |
2 | g.31533676G>C | CA425568338 | SRD5A2 | c.372C>G (p.Val124=) c.150C>G (p.Val50=) c.117C>G (p.Val39=) | |
2 | g.31533676G= | CA1242199335 | SRD5A2 | c.372C= (p.Val124=) c.150C= (p.Val50=) c.117C= (p.Val39=) | |
2 | g.31533676G>T | CA425568340 | SRD5A2 | c.372C>A (p.Val124=) c.150C>A (p.Val50=) c.117C>A (p.Val39=) | |
2 | g.31533677A= | CA1242199336 | SRD5A2 | c.371T= (p.Val124=) c.149T= (p.Val50=) c.116T= (p.Val39=) | |
2 | g.31533677A>C | CA346598561 | SRD5A2 | c.371T>G (p.Val124Gly) c.149T>G (p.Val50Gly) c.116T>G (p.Val39Gly) | |
2 | g.31533677A>G | CA346598562 | SRD5A2 | c.371T>C (p.Val124Ala) c.149T>C (p.Val50Ala) c.116T>C (p.Val39Ala) | |
2 | g.31533677A>T | CA346598563 | SRD5A2 | c.371T>A (p.Val124Asp) c.149T>A (p.Val50Asp) c.116T>A (p.Val39Asp) | dbSNP gnomAD v4 |
2 | g.31533678C>A | CA346598564 | SRD5A2 | c.370G>T (p.Val124Phe) c.148G>T (p.Val50Phe) c.115G>T (p.Val39Phe) | gnomAD v4 |
2 | g.31533678C>G | CA346598565 | SRD5A2 | c.370G>C (p.Val124Leu) c.148G>C (p.Val50Leu) c.115G>C (p.Val39Leu) | |
2 | g.31533678C>T | CA346598566 | SRD5A2 | c.370G>A (p.Val124Ile) c.148G>A (p.Val50Ile) c.115G>A (p.Val39Ile) | gnomAD v4 |
2 | g.31533679T>A | CA425568345 | SRD5A2 | c.369A>T (p.Gly123=) c.147A>T (p.Gly49=) c.114A>T (p.Gly38=) | gnomAD v4 |
2 | g.31533679T>C | CA425568346 | SRD5A2 | c.369A>G (p.Gly123=) c.147A>G (p.Gly49=) c.114A>G (p.Gly38=) | gnomAD v4 |
2 | g.31533679T>G | CA425568347 | SRD5A2 | c.369A>C (p.Gly123=) c.147A>C (p.Gly49=) c.114A>C (p.Gly38=) | |
2 | g.31533680C>A | CA346598567 | SRD5A2 | c.368G>T (p.Gly123Val) c.146G>T (p.Gly49Val) c.113G>T (p.Gly38Val) | gnomAD v4 |
2 | g.31533680C>G | CA346598568 | SRD5A2 | c.368G>C (p.Gly123Ala) c.146G>C (p.Gly49Ala) c.113G>C (p.Gly38Ala) | gnomAD v4 |
2 | g.31533680C>T | CA346598569 | SRD5A2 | c.368G>A (p.Gly123Glu) c.146G>A (p.Gly49Glu) c.113G>A (p.Gly38Glu) | gnomAD v4 |
2 | g.31533681C>A | CA346598570 | SRD5A2 | c.367G>T (p.Gly123Ter) c.145G>T (p.Gly49Ter) c.112G>T (p.Gly38Ter) | |
2 | g.31533681C= | CA1242199337 | SRD5A2 | c.367G= (p.Gly123=) c.145G= (p.Gly49=) c.112G= (p.Gly38=) | |
2 | g.31533681C>G | CA346598571 | SRD5A2 | c.367G>C (p.Gly123Arg) c.145G>C (p.Gly49Arg) c.112G>C (p.Gly38Arg) | |
2 | g.31533681C>T | CA346598572 | SRD5A2 | c.367G>A (p.Gly123Arg) c.145G>A (p.Gly49Arg) c.112G>A (p.Gly38Arg) | dbSNP gnomAD v4 |
2 | g.31533682A= | CA1242199339 | SRD5A2 | c.366T= (p.Asn122=) c.144T= (p.Asn48=) c.111T= (p.Asn37=) | |
2 | g.31533682A>C | CA346598574 | SRD5A2 | c.366T>G (p.Asn122Lys) c.144T>G (p.Asn48Lys) c.111T>G (p.Asn37Lys) | |
2 | g.31533682A>G | CA1599953 | SRD5A2 | c.366T>C (p.Asn122=) c.144T>C (p.Asn48=) c.111T>C (p.Asn37=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533682A>T | CA346598573 | SRD5A2 | c.366T>A (p.Asn122Lys) c.144T>A (p.Asn48Lys) c.111T>A (p.Asn37Lys) | |
2 | g.31533682_31533683delinsAT | CA1242199338 | SRD5A2 | c.365_366delinsAT (p.Asn122=) c.143_144delinsAT (p.Asn48=) c.110_111delinsAT (p.Asn37=) | |
2 | g.31533683T>A | CA346598575 | SRD5A2 | c.365A>T (p.Asn122Ile) c.143A>T (p.Asn48Ile) c.110A>T (p.Asn37Ile) | |
2 | g.31533683T>C | CA346598576 | SRD5A2 | c.365A>G (p.Asn122Ser) c.143A>G (p.Asn48Ser) c.110A>G (p.Asn37Ser) | |
2 | g.31533683T>G | CA346598577 | SRD5A2 | c.365A>C (p.Asn122Thr) c.143A>C (p.Asn48Thr) c.110A>C (p.Asn37Thr) | |
2 | g.31533685del | CA45136779 | SRD5A2 | c.365del (p.Asn122MetfsTer9) c.143del (p.Asn48MetfsTer9) c.110del (p.Asn37MetfsTer9) | dbSNP |
2 | g.31533684T>A | CA346598579 | SRD5A2 | c.364A>T (p.Asn122Tyr) c.142A>T (p.Asn48Tyr) c.109A>T (p.Asn37Tyr) | |
2 | g.31533684T>C | CA1599954 | SRD5A2 | c.364A>G (p.Asn122Asp) c.142A>G (p.Asn48Asp) c.109A>G (p.Asn37Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533684T>G | CA346598578 | SRD5A2 | c.364A>C (p.Asn122His) c.142A>C (p.Asn48His) c.109A>C (p.Asn37His) | |
2 | g.31533684T= | CA1242199340 | SRD5A2 | c.364A= (p.Asn122=) c.142A= (p.Asn48=) c.109A= (p.Asn37=) | |
2 | g.31533685T>A | CA425568358 | SRD5A2 | c.363A>T (p.Gly121=) c.141A>T (p.Gly47=) c.108A>T (p.Gly36=) | |
2 | g.31533685T>C | CA425568359 | SRD5A2 | c.363A>G (p.Gly121=) c.141A>G (p.Gly47=) c.108A>G (p.Gly36=) | gnomAD v4 |
2 | g.31533685T>G | CA425568360 | SRD5A2 | c.363A>C (p.Gly121=) c.141A>C (p.Gly47=) c.108A>C (p.Gly36=) | |
2 | g.31533686C>A | CA346598580 | SRD5A2 | c.362G>T (p.Gly121Val) c.140G>T (p.Gly47Val) c.107G>T (p.Gly36Val) | gnomAD v4 |
2 | g.31533686C>G | CA346598581 | SRD5A2 | c.362G>C (p.Gly121Ala) c.140G>C (p.Gly47Ala) c.107G>C (p.Gly36Ala) | |
2 | g.31533686C>T | CA346598582 | SRD5A2 | c.362G>A (p.Gly121Glu) c.140G>A (p.Gly47Glu) c.107G>A (p.Gly36Glu) | COSMIC |
2 | g.31533687C>A | CA346598583 | SRD5A2 | c.361G>T (p.Gly121Ter) c.139G>T (p.Gly47Ter) c.106G>T (p.Gly36Ter) | |
2 | g.31533687C>G | CA346598584 | SRD5A2 | c.361G>C (p.Gly121Arg) c.139G>C (p.Gly47Arg) c.106G>C (p.Gly36Arg) | |
2 | g.31533687C>T | CA346598585 | SRD5A2 | c.361G>A (p.Gly121Arg) c.139G>A (p.Gly47Arg) c.106G>A (p.Gly36Arg) | gnomAD v4 |
2 | g.31533688A>C | CA425568363 | SRD5A2 | c.360T>G (p.Thr120=) c.138T>G (p.Thr46=) c.105T>G (p.Thr35=) | |
2 | g.31533688A>G | CA425568364 | SRD5A2 | c.360T>C (p.Thr120=) c.138T>C (p.Thr46=) c.105T>C (p.Thr35=) | gnomAD v4 |
2 | g.31533688A>T | CA425568365 | SRD5A2 | c.360T>A (p.Thr120=) c.138T>A (p.Thr46=) c.105T>A (p.Thr35=) | |
2 | g.31533689G>A | CA346598586 | SRD5A2 | c.359C>T (p.Thr120Ile) c.137C>T (p.Thr46Ile) c.104C>T (p.Thr35Ile) | |
2 | g.31533689G>C | CA346598588 | SRD5A2 | c.359C>G (p.Thr120Ser) c.137C>G (p.Thr46Ser) c.104C>G (p.Thr35Ser) | gnomAD v4 |
2 | g.31533689G>T | CA346598587 | SRD5A2 | c.359C>A (p.Thr120Asn) c.137C>A (p.Thr46Asn) c.104C>A (p.Thr35Asn) | gnomAD v4 |
2 | g.31533690T>A | CA346598589 | SRD5A2 | c.358A>T (p.Thr120Ser) c.136A>T (p.Thr46Ser) c.103A>T (p.Thr35Ser) | |
2 | g.31533690T>C | CA346598590 | SRD5A2 | c.358A>G (p.Thr120Ala) c.136A>G (p.Thr46Ala) c.103A>G (p.Thr35Ala) | dbSNP gnomAD v2 |
2 | g.31533690T>G | CA1599955 | SRD5A2 | c.358A>C (p.Thr120Pro) c.136A>C (p.Thr46Pro) c.103A>C (p.Thr35Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533690T= | CA1242199341 | SRD5A2 | c.358A= (p.Thr120=) c.136A= (p.Thr46=) c.103A= (p.Thr35=) | |
2 | g.31533691del | CA2573134597 | SRD5A2 | c.357del (p.Cys119Ter) c.135del (p.Cys45Ter) c.102del (p.Cys34Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.31533691G>A | CA425568370 | SRD5A2 | c.357C>T (p.Cys119=) c.135C>T (p.Cys45=) c.102C>T (p.Cys34=) | gnomAD v4 |
2 | g.31533691G>C | CA346598591 | SRD5A2 | c.357C>G (p.Cys119Trp) c.135C>G (p.Cys45Trp) c.102C>G (p.Cys34Trp) | |
2 | g.31533691G>T | CA346598592 | SRD5A2 | c.357C>A (p.Cys119Ter) c.135C>A (p.Cys45Ter) c.102C>A (p.Cys34Ter) | gnomAD v4 |
2 | g.31533692C>A | CA346598593 | SRD5A2 | c.356G>T (p.Cys119Phe) c.134G>T (p.Cys45Phe) c.101G>T (p.Cys34Phe) | gnomAD v4 |
2 | g.31533692C= | CA1242199342 | SRD5A2 | c.356G= (p.Cys119=) c.134G= (p.Cys45=) c.101G= (p.Cys34=) | |
2 | g.31533692C>G | CA346598594 | SRD5A2 | c.356G>C (p.Cys119Ser) c.134G>C (p.Cys45Ser) c.101G>C (p.Cys34Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533692C>T | CA346598595 | SRD5A2 | c.356G>A (p.Cys119Tyr) c.134G>A (p.Cys45Tyr) c.101G>A (p.Cys34Tyr) | COSMIC |
2 | g.31533693A>C | CA346598596 | SRD5A2 | c.355T>G (p.Cys119Gly) c.133T>G (p.Cys45Gly) c.100T>G (p.Cys34Gly) | |
2 | g.31533693A>G | CA346598597 | SRD5A2 | c.355T>C (p.Cys119Arg) c.133T>C (p.Cys45Arg) c.100T>C (p.Cys34Arg) | |
2 | g.31533693A>T | CA346598598 | SRD5A2 | c.355T>A (p.Cys119Ser) c.133T>A (p.Cys45Ser) c.100T>A (p.Cys34Ser) | |
2 | g.31533694G>A | CA425568375 | SRD5A2 | c.354C>T (p.Phe118=) c.132C>T (p.Phe44=) c.99C>T (p.Phe33=) | |
2 | g.31533694G>C | CA45136780 | SRD5A2 | c.354C>G (p.Phe118Leu) c.132C>G (p.Phe44Leu) c.99C>G (p.Phe33Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533694G= | CA1242199343 | SRD5A2 | c.354C= (p.Phe118=) c.132C= (p.Phe44=) c.99C= (p.Phe33=) | |
2 | g.31533694G>T | CA1599956 | SRD5A2 | c.354C>A (p.Phe118Leu) c.132C>A (p.Phe44Leu) c.99C>A (p.Phe33Leu) | dbSNP ExAC gnomAD v4 |
2 | g.31533695A>C | CA346598599 | SRD5A2 | c.353T>G (p.Phe118Cys) c.131T>G (p.Phe44Cys) c.98T>G (p.Phe33Cys) | |
2 | g.31533695A>G | CA346598600 | SRD5A2 | c.353T>C (p.Phe118Ser) c.131T>C (p.Phe44Ser) c.98T>C (p.Phe33Ser) | |
2 | g.31533695A>T | CA346598601 | SRD5A2 | c.353T>A (p.Phe118Tyr) c.131T>A (p.Phe44Tyr) c.98T>A (p.Phe33Tyr) | |
2 | g.31533696A= | CA1242199344 | SRD5A2 | c.352T= (p.Phe118=) c.130T= (p.Phe44=) c.97T= (p.Phe33=) | |
2 | g.31533696A>C | CA346598602 | SRD5A2 | c.352T>G (p.Phe118Val) c.130T>G (p.Phe44Val) c.97T>G (p.Phe33Val) | dbSNP |
2 | g.31533696A>G | CA346598604 | SRD5A2 | c.352T>C (p.Phe118Leu) c.130T>C (p.Phe44Leu) c.97T>C (p.Phe33Leu) | |
2 | g.31533696A>T | CA346598603 | SRD5A2 | c.352T>A (p.Phe118Ile) c.130T>A (p.Phe44Ile) c.97T>A (p.Phe33Ile) | |
2 | g.31533697G>A | CA425568381 | SRD5A2 | c.351C>T (p.Ala117=) c.129C>T (p.Ala43=) c.96C>T (p.Ala32=) | |
2 | g.31533697G>C | CA425568383 | SRD5A2 | c.351C>G (p.Ala117=) c.129C>G (p.Ala43=) c.96C>G (p.Ala32=) | |
2 | g.31533697G>T | CA425568384 | SRD5A2 | c.351C>A (p.Ala117=) c.129C>A (p.Ala43=) c.96C>A (p.Ala32=) | gnomAD v4 |
2 | g.31533698G>A | CA1599957 | SRD5A2 | c.350C>T (p.Ala117Val) c.128C>T (p.Ala43Val) c.95C>T (p.Ala32Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533698G>C | CA346598605 | SRD5A2 | c.350C>G (p.Ala117Gly) c.128C>G (p.Ala43Gly) c.95C>G (p.Ala32Gly) | gnomAD v4 |
2 | g.31533698G= | CA1242199345 | SRD5A2 | c.350C= (p.Ala117=) c.128C= (p.Ala43=) c.95C= (p.Ala32=) | |
2 | g.31533698G>T | CA346598606 | SRD5A2 | c.350C>A (p.Ala117Asp) c.128C>A (p.Ala43Asp) c.95C>A (p.Ala32Asp) | gnomAD v4 |
2 | g.31533699C>A | CA346598607 | SRD5A2 | c.349G>T (p.Ala117Ser) c.127G>T (p.Ala43Ser) c.94G>T (p.Ala32Ser) | |
2 | g.31533699C>G | CA346598608 | SRD5A2 | c.349G>C (p.Ala117Pro) c.127G>C (p.Ala43Pro) c.94G>C (p.Ala32Pro) | |
2 | g.31533699C>T | CA346598609 | SRD5A2 | c.349G>A (p.Ala117Thr) c.127G>A (p.Ala43Thr) c.94G>A (p.Ala32Thr) | gnomAD v4 COSMIC |
2 | g.31533700A>C | CA425568389 | SRD5A2 | c.348T>G (p.Thr116=) c.126T>G (p.Thr42=) c.93T>G (p.Thr31=) | gnomAD v4 |
2 | g.31533700A>G | CA425568391 | SRD5A2 | c.348T>C (p.Thr116=) c.126T>C (p.Thr42=) c.93T>C (p.Thr31=) | |
2 | g.31533700A>T | CA425568392 | SRD5A2 | c.348T>A (p.Thr116=) c.126T>A (p.Thr42=) c.93T>A (p.Thr31=) | |
2 | g.31533701G>A | CA346598610 | SRD5A2 | c.347C>T (p.Thr116Ile) c.125C>T (p.Thr42Ile) c.92C>T (p.Thr31Ile) | dbSNP |
2 | g.31533701G>C | CA346598611 | SRD5A2 | c.347C>G (p.Thr116Ser) c.125C>G (p.Thr42Ser) c.92C>G (p.Thr31Ser) | |
2 | g.31533701G>T | CA346598612 | SRD5A2 | c.347C>A (p.Thr116Asn) c.125C>A (p.Thr42Asn) c.92C>A (p.Thr31Asn) | |
2 | g.31533702T>A | CA346598614 | SRD5A2 | c.346A>T (p.Thr116Ser) c.124A>T (p.Thr42Ser) c.91A>T (p.Thr31Ser) | |
2 | g.31533702T>C | CA45136781 | SRD5A2 | c.346A>G (p.Thr116Ala) c.124A>G (p.Thr42Ala) c.91A>G (p.Thr31Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533702T>G | CA346598613 | SRD5A2 | c.346A>C (p.Thr116Pro) c.124A>C (p.Thr42Pro) c.91A>C (p.Thr31Pro) | |
2 | g.31533702T= | CA1242199346 | SRD5A2 | c.346A= (p.Thr116=) c.124A= (p.Thr42=) c.91A= (p.Thr31=) | |
2 | g.31533703G>A | CA425568397 | SRD5A2 | c.345C>T (p.Gly115=) c.123C>T (p.Gly41=) c.90C>T (p.Gly30=) | |
2 | g.31533703G>C | CA425568400 | SRD5A2 | c.345C>G (p.Gly115=) c.123C>G (p.Gly41=) c.90C>G (p.Gly30=) | |
2 | g.31533703G>T | CA425568399 | SRD5A2 | c.345C>A (p.Gly115=) c.123C>A (p.Gly41=) c.90C>A (p.Gly30=) | gnomAD v4 |
2 | g.31533704C>A | CA346598615 | SRD5A2 | c.344G>T (p.Gly115Val) c.122G>T (p.Gly41Val) c.89G>T (p.Gly30Val) | |
2 | g.31533704C= | CA1242199347 | SRD5A2 | c.344G= (p.Gly115=) c.122G= (p.Gly41=) c.89G= (p.Gly30=) | |
2 | g.31533704C>G | CA346598616 | SRD5A2 | c.344G>C (p.Gly115Ala) c.122G>C (p.Gly41Ala) c.89G>C (p.Gly30Ala) | |
2 | g.31533704C>T | CA340070 | SRD5A2 | c.344G>A (p.Gly115Asp) c.122G>A (p.Gly41Asp) c.89G>A (p.Gly30Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533705C>A | CA346598617 | SRD5A2 | c.343G>T (p.Gly115Cys) c.121G>T (p.Gly41Cys) c.88G>T (p.Gly30Cys) | gnomAD v4 |
2 | g.31533705C>G | CA346598618 | SRD5A2 | c.343G>C (p.Gly115Arg) c.121G>C (p.Gly41Arg) c.88G>C (p.Gly30Arg) | |
2 | g.31533705C>T | CA346598619 | SRD5A2 | c.343G>A (p.Gly115Ser) c.121G>A (p.Gly41Ser) c.88G>A (p.Gly30Ser) | gnomAD v4 |
2 | g.31533706T>A | CA346598621 | SRD5A2 | c.342A>T (p.Arg114Ser) c.120A>T (p.Arg40Ser) c.87A>T (p.Arg29Ser) | gnomAD v4 COSMIC |
2 | g.31533706T>C | CA425568406 | SRD5A2 | c.342A>G (p.Arg114=) c.120A>G (p.Arg40=) c.87A>G (p.Arg29=) | gnomAD v4 |
2 | g.31533706T>G | CA346598620 | SRD5A2 | c.342A>C (p.Arg114Ser) c.120A>C (p.Arg40Ser) c.87A>C (p.Arg29Ser) | |
2 | g.31533707C>A | CA346598622 | SRD5A2 | c.341G>T (p.Arg114Ile) c.119G>T (p.Arg40Ile) c.86G>T (p.Arg29Ile) | |
2 | g.31533707C>G | CA346598623 | SRD5A2 | c.341G>C (p.Arg114Thr) c.119G>C (p.Arg40Thr) c.86G>C (p.Arg29Thr) | |
2 | g.31533707C>T | CA346598624 | SRD5A2 | c.341G>A (p.Arg114Lys) c.119G>A (p.Arg40Lys) c.86G>A (p.Arg29Lys) | gnomAD v4 |
2 | g.31533708T>A | CA346598625 | SRD5A2 | c.340A>T (p.Arg114Ter) c.118A>T (p.Arg40Ter) c.85A>T (p.Arg29Ter) | |
2 | g.31533708T>C | CA346598626 | SRD5A2 | c.340A>G (p.Arg114Gly) c.118A>G (p.Arg40Gly) c.85A>G (p.Arg29Gly) | gnomAD v4 |
2 | g.31533708T>G | CA425568410 | SRD5A2 | c.340A>C (p.Arg114=) c.118A>C (p.Arg40=) c.85A>C (p.Arg29=) | |
2 | g.31533709G>A | CA1599958 | SRD5A2 | c.339C>T (p.Leu113=) c.117C>T (p.Leu39=) c.84C>T (p.Leu28=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533709G>C | CA425568413 | SRD5A2 | c.339C>G (p.Leu113=) c.117C>G (p.Leu39=) c.84C>G (p.Leu28=) | |
2 | g.31533709G= | CA1242199348 | SRD5A2 | c.339C= (p.Leu113=) c.117C= (p.Leu39=) c.84C= (p.Leu28=) | |
2 | g.31533709G>T | CA425568415 | SRD5A2 | c.339C>A (p.Leu113=) c.117C>A (p.Leu39=) c.84C>A (p.Leu28=) | gnomAD v4 |
2 | g.31533710A= | CA1242199349 | SRD5A2 | c.338T= (p.Leu113=) c.116T= (p.Leu39=) c.83T= (p.Leu28=) | |
2 | g.31533710A>C | CA346598627 | SRD5A2 | c.338T>G (p.Leu113Arg) c.116T>G (p.Leu39Arg) c.83T>G (p.Leu28Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533710A>G | CA346598629 | SRD5A2 | c.338T>C (p.Leu113Pro) c.116T>C (p.Leu39Pro) c.83T>C (p.Leu28Pro) | |
2 | g.31533710A>T | CA346598628 | SRD5A2 | c.338T>A (p.Leu113His) c.116T>A (p.Leu39His) c.83T>A (p.Leu28His) | |
2 | g.31533711G>A | CA346598630 | SRD5A2 | c.337C>T (p.Leu113Phe) c.115C>T (p.Leu39Phe) c.82C>T (p.Leu28Phe) | |
2 | g.31533711G>C | CA1599959 | SRD5A2 | c.337C>G (p.Leu113Val) c.115C>G (p.Leu39Val) c.82C>G (p.Leu28Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533711G= | CA1242199350 | SRD5A2 | c.337C= (p.Leu113=) c.115C= (p.Leu39=) c.82C= (p.Leu28=) | |
2 | g.31533711G>T | CA346598631 | SRD5A2 | c.337C>A (p.Leu113Ile) c.115C>A (p.Leu39Ile) c.82C>A (p.Leu28Ile) | gnomAD v4 COSMIC |
2 | g.31533712A>C | CA346598632 | SRD5A2 | c.336T>G (p.Ile112Met) c.114T>G (p.Ile38Met) c.81T>G (p.Ile27Met) | |
2 | g.31533712A>G | CA425568421 | SRD5A2 | c.336T>C (p.Ile112=) c.114T>C (p.Ile38=) c.81T>C (p.Ile27=) | gnomAD v4 |
2 | g.31533712A>T | CA425568422 | SRD5A2 | c.336T>A (p.Ile112=) c.114T>A (p.Ile38=) c.81T>A (p.Ile27=) | |
2 | g.31533713A= | CA1242199351 | SRD5A2 | c.335T= (p.Ile112=) c.113T= (p.Ile38=) c.80T= (p.Ile27=) | |
2 | g.31533713A>C | CA346598633 | SRD5A2 | c.335T>G (p.Ile112Ser) c.113T>G (p.Ile38Ser) c.80T>G (p.Ile27Ser) | |
2 | g.31533713A>G | CA346598634 | SRD5A2 | c.335T>C (p.Ile112Thr) c.113T>C (p.Ile38Thr) c.80T>C (p.Ile27Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533713A>T | CA1599960 | SRD5A2 | c.335T>A (p.Ile112Asn) c.113T>A (p.Ile38Asn) c.80T>A (p.Ile27Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533714T>A | CA346598635 | SRD5A2 | c.334A>T (p.Ile112Phe) c.112A>T (p.Ile38Phe) c.79A>T (p.Ile27Phe) | |
2 | g.31533714T>C | CA346598636 | SRD5A2 | c.334A>G (p.Ile112Val) c.112A>G (p.Ile38Val) c.79A>G (p.Ile27Val) | |
2 | g.31533714T>G | CA346598637 | SRD5A2 | c.334A>C (p.Ile112Leu) c.112A>C (p.Ile38Leu) c.79A>C (p.Ile27Leu) | gnomAD v4 |
2 | g.31533714_31533716delinsTGA | CA1242199352 | SRD5A2 | c.332_334delinsTCA (p.Leu111=) c.110_112delinsTCA (p.Leu37=) c.77_79delinsTCA (p.Leu26=) | |
2 | g.31533715G>A | CA45136782 | SRD5A2 | c.333C>T (p.Leu111=) c.111C>T (p.Leu37=) c.78C>T (p.Leu26=) | ClinVar dbSNP gnomAD v4 |
2 | g.31533715G>C | CA425568428 | SRD5A2 | c.333C>G (p.Leu111=) c.111C>G (p.Leu37=) c.78C>G (p.Leu26=) | |
2 | g.31533715G= | CA1242199353 | SRD5A2 | c.333C= (p.Leu111=) c.111C= (p.Leu37=) c.78C= (p.Leu26=) | |
2 | g.31533715G>T | CA425568430 | SRD5A2 | c.333C>A (p.Leu111=) c.111C>A (p.Leu37=) c.78C>A (p.Leu26=) | gnomAD v4 |
2 | g.31533716_31533717del | CA767761813 | SRD5A2 | c.332_333del (p.Leu111HisfsTer24) c.110_111del (p.Leu37HisfsTer24) c.77_78del (p.Leu26HisfsTer24) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31533716A>C | CA346598640 | SRD5A2 | c.332T>G (p.Leu111Arg) c.110T>G (p.Leu37Arg) c.77T>G (p.Leu26Arg) | |
2 | g.31533716A>G | CA346598639 | SRD5A2 | c.332T>C (p.Leu111Pro) c.110T>C (p.Leu37Pro) c.77T>C (p.Leu26Pro) | |
2 | g.31533716A>T | CA346598638 | SRD5A2 | c.332T>A (p.Leu111His) c.110T>A (p.Leu37His) c.77T>A (p.Leu26His) | |
2 | g.31533717G>A | CA346598641 | SRD5A2 | c.331C>T (p.Leu111Phe) c.109C>T (p.Leu37Phe) c.76C>T (p.Leu26Phe) | |
2 | g.31533717G>C | CA346598642 | SRD5A2 | c.331C>G (p.Leu111Val) c.109C>G (p.Leu37Val) c.76C>G (p.Leu26Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533717G= | CA1242199354 | SRD5A2 | c.331C= (p.Leu111=) c.109C= (p.Leu37=) c.76C= (p.Leu26=) | |
2 | g.31533717G>T | CA1599961 | SRD5A2 | c.331C>A (p.Leu111Ile) c.109C>A (p.Leu37Ile) c.76C>A (p.Leu26Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533718T>A | CA425568434 | SRD5A2 | c.330A>T (p.Ile110=) c.108A>T (p.Ile36=) c.75A>T (p.Ile25=) | |
2 | g.31533718T>C | CA346598643 | SRD5A2 | c.330A>G (p.Ile110Met) c.108A>G (p.Ile36Met) c.75A>G (p.Ile25Met) | gnomAD v4 |
2 | g.31533718T>G | CA425568436 | SRD5A2 | c.330A>C (p.Ile110=) c.108A>C (p.Ile36=) c.75A>C (p.Ile25=) | |
2 | g.31533719A>C | CA346598645 | SRD5A2 | c.329T>G (p.Ile110Arg) c.107T>G (p.Ile36Arg) c.74T>G (p.Ile25Arg) | |
2 | g.31533719A>G | CA346598644 | SRD5A2 | c.329T>C (p.Ile110Thr) c.107T>C (p.Ile36Thr) c.74T>C (p.Ile25Thr) | gnomAD v4 |
2 | g.31533719A>T | CA346598646 | SRD5A2 | c.329T>A (p.Ile110Lys) c.107T>A (p.Ile36Lys) c.74T>A (p.Ile25Lys) | |
2 | g.31533720T>A | CA346598647 | SRD5A2 | c.328A>T (p.Ile110Leu) c.106A>T (p.Ile36Leu) c.73A>T (p.Ile25Leu) | |
2 | g.31533720T>C | CA1599962 | SRD5A2 | c.328A>G (p.Ile110Val) c.106A>G (p.Ile36Val) c.73A>G (p.Ile25Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533720T>G | CA346598648 | SRD5A2 | c.328A>C (p.Ile110Leu) c.106A>C (p.Ile36Leu) c.73A>C (p.Ile25Leu) | gnomAD v4 |
2 | g.31533720T= | CA1242199355 | SRD5A2 | c.328A= (p.Ile110=) c.106A= (p.Ile36=) c.73A= (p.Ile25=) | |
2 | g.31533721A>C | CA425568441 | SRD5A2 | c.327T>G (p.Ala109=) c.105T>G (p.Ala35=) c.72T>G (p.Ala24=) | |
2 | g.31533721A>G | CA425568443 | SRD5A2 | c.327T>C (p.Ala109=) c.105T>C (p.Ala35=) c.72T>C (p.Ala24=) | gnomAD v4 |
2 | g.31533721A>T | CA425568444 | SRD5A2 | c.327T>A (p.Ala109=) c.105T>A (p.Ala35=) c.72T>A (p.Ala24=) | COSMIC |
2 | g.31533722G>A | CA346598649 | SRD5A2 | c.326C>T (p.Ala109Val) c.104C>T (p.Ala35Val) c.71C>T (p.Ala24Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31533722G>C | CA346598650 | SRD5A2 | c.326C>G (p.Ala109Gly) c.104C>G (p.Ala35Gly) c.71C>G (p.Ala24Gly) | |
2 | g.31533722G= | CA1242199356 | SRD5A2 | c.326C= (p.Ala109=) c.104C= (p.Ala35=) c.71C= (p.Ala24=) | |
2 | g.31533722G>T | CA346598651 | SRD5A2 | c.326C>A (p.Ala109Asp) c.104C>A (p.Ala35Asp) c.71C>A (p.Ala24Asp) | gnomAD v4 |
2 | g.31533723C>A | CA346598652 | SRD5A2 | c.325G>T (p.Ala109Ser) c.103G>T (p.Ala35Ser) c.70G>T (p.Ala24Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31533723C= | CA1242199357 | SRD5A2 | c.325G= (p.Ala109=) c.103G= (p.Ala35=) c.70G= (p.Ala24=) | |
2 | g.31533723C>G | CA346598653 | SRD5A2 | c.325G>C (p.Ala109Pro) c.103G>C (p.Ala35Pro) c.70G>C (p.Ala24Pro) | gnomAD v4 |
2 | g.31533723C>T | CA346598654 | SRD5A2 | c.325G>A (p.Ala109Thr) c.103G>A (p.Ala35Thr) c.70G>A (p.Ala24Thr) | dbSNP gnomAD v4 |
2 | g.31533724T>A | CA425568449 | SRD5A2 | c.324A>T (p.Pro108=) c.102A>T (p.Pro34=) c.69A>T (p.Pro23=) | gnomAD v4 |
2 | g.31533724T>C | CA425568452 | SRD5A2 | c.324A>G (p.Pro108=) c.102A>G (p.Pro34=) c.69A>G (p.Pro23=) | dbSNP gnomAD v4 |
2 | g.31533724T>G | CA425568451 | SRD5A2 | c.324A>C (p.Pro108=) c.102A>C (p.Pro34=) c.69A>C (p.Pro23=) | |
2 | g.31533724T= | CA1242199358 | SRD5A2 | c.324A= (p.Pro108=) c.102A= (p.Pro34=) c.69A= (p.Pro23=) | |
2 | g.31533725G>A | CA346598655 | SRD5A2 | c.323C>T (p.Pro108Leu) c.101C>T (p.Pro34Leu) c.68C>T (p.Pro23Leu) | |
2 | g.31533725G>C | CA346598656 | SRD5A2 | c.323C>G (p.Pro108Arg) c.101C>G (p.Pro34Arg) c.68C>G (p.Pro23Arg) | |
2 | g.31533725G>T | CA346598657 | SRD5A2 | c.323C>A (p.Pro108Gln) c.101C>A (p.Pro34Gln) c.68C>A (p.Pro23Gln) | gnomAD v4 |
2 | g.31533726G>A | CA346598658 | SRD5A2 | c.322C>T (p.Pro108Ser) c.100C>T (p.Pro34Ser) c.67C>T (p.Pro23Ser) | |
2 | g.31533726G>C | CA346598660 | SRD5A2 | c.322C>G (p.Pro108Ala) c.100C>G (p.Pro34Ala) c.67C>G (p.Pro23Ala) | COSMIC |
2 | g.31533726G>T | CA346598659 | SRD5A2 | c.322C>A (p.Pro108Thr) c.100C>A (p.Pro34Thr) c.67C>A (p.Pro23Thr) | gnomAD v4 |
2 | g.31533727A= | CA1242199359 | SRD5A2 | c.321T= (p.Tyr107=) c.99T= (p.Tyr33=) c.66T= (p.Tyr22=) | |
2 | g.31533727A>C | CA346598661 | SRD5A2 | c.321T>G (p.Tyr107Ter) c.99T>G (p.Tyr33Ter) c.66T>G (p.Tyr22Ter) | |
2 | g.31533727A>G | CA1599963 | SRD5A2 | c.321T>C (p.Tyr107=) c.99T>C (p.Tyr33=) c.66T>C (p.Tyr22=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533727A>T | CA346598662 | SRD5A2 | c.321T>A (p.Tyr107Ter) c.99T>A (p.Tyr33Ter) c.66T>A (p.Tyr22Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.31533728T>A | CA346598663 | SRD5A2 | c.320A>T (p.Tyr107Phe) c.98A>T (p.Tyr33Phe) c.65A>T (p.Tyr22Phe) | |
2 | g.31533728T>C | CA346598664 | SRD5A2 | c.320A>G (p.Tyr107Cys) c.98A>G (p.Tyr33Cys) c.65A>G (p.Tyr22Cys) | dbSNP |
2 | g.31533728T>G | CA346598665 | SRD5A2 | c.320A>C (p.Tyr107Ser) c.98A>C (p.Tyr33Ser) c.65A>C (p.Tyr22Ser) | |
2 | g.31533728T= | CA1242199360 | SRD5A2 | c.320A= (p.Tyr107=) c.98A= (p.Tyr33=) c.65A= (p.Tyr22=) |