Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.31533658_31533673delinsCAGATAGTAGCCTTGA | CA1242199325 | SRD5A2 | c.375_390delinsTCAAGGCTACTATCTG (p.Leu125=) c.153_168delinsTCAAGGCTACTATCTG (p.Leu51=) c.120_135delinsTCAAGGCTACTATCTG (p.Leu40=) | |
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.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=) | |
2 | g.31533729A>C | CA346598666 | SRD5A2 | c.319T>G (p.Tyr107Asp) c.97T>G (p.Tyr33Asp) c.64T>G (p.Tyr22Asp) | |
2 | g.31533729A>G | CA346598667 | SRD5A2 | c.319T>C (p.Tyr107His) c.97T>C (p.Tyr33His) c.64T>C (p.Tyr22His) | gnomAD v4 |
2 | g.31533729A>T | CA346598668 | SRD5A2 | c.319T>A (p.Tyr107Asn) c.97T>A (p.Tyr33Asn) c.64T>A (p.Tyr22Asn) | |
2 | g.31533730A>C | CA425568464 | SRD5A2 | c.318T>G (p.Pro106=) c.96T>G (p.Pro32=) c.63T>G (p.Pro21=) | gnomAD v4 |
2 | g.31533730A>G | CA425568465 | SRD5A2 | c.318T>C (p.Pro106=) c.96T>C (p.Pro32=) c.63T>C (p.Pro21=) | ClinVar gnomAD v2 gnomAD v4 |
2 | g.31533730A>T | CA425568466 | SRD5A2 | c.318T>A (p.Pro106=) c.96T>A (p.Pro32=) c.63T>A (p.Pro21=) | gnomAD v4 |
2 | g.31533730_31533731delinsAG | CA1242199361 | SRD5A2 | c.317_318delinsCT (p.Pro106=) c.95_96delinsCT (p.Pro32=) c.62_63delinsCT (p.Pro21=) | |
2 | g.31533731G>A | CA1599964 | SRD5A2 | c.317C>T (p.Pro106Leu) c.95C>T (p.Pro32Leu) c.62C>T (p.Pro21Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533731G>C | CA346598670 | SRD5A2 | c.317C>G (p.Pro106Arg) c.95C>G (p.Pro32Arg) c.62C>G (p.Pro21Arg) | |
2 | g.31533731G= | CA1242199362 | SRD5A2 | c.317C= (p.Pro106=) c.95C= (p.Pro32=) c.62C= (p.Pro21=) | |
2 | g.31533731G>T | CA346598669 | SRD5A2 | c.317C>A (p.Pro106His) c.95C>A (p.Pro32His) c.62C>A (p.Pro21His) | |
2 | g.31533732del | CA45136783 | SRD5A2 | c.317del (p.Pro106LeufsTer25) c.95del (p.Pro32LeufsTer25) c.62del (p.Pro21LeufsTer25) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533732G>A | CA45136784 | SRD5A2 | c.316C>T (p.Pro106Ser) c.94C>T (p.Pro32Ser) c.61C>T (p.Pro21Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533732G>C | CA1599965 | SRD5A2 | c.316C>G (p.Pro106Ala) c.94C>G (p.Pro32Ala) c.61C>G (p.Pro21Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533732G= | CA1242199363 | SRD5A2 | c.316C= (p.Pro106=) c.94C= (p.Pro32=) c.61C= (p.Pro21=) | |
2 | g.31533732G>T | CA346598671 | SRD5A2 | c.316C>A (p.Pro106Thr) c.94C>A (p.Pro32Thr) c.61C>A (p.Pro21Thr) | gnomAD v4 |
2 | g.31533733C>A | CA346598672 | SRD5A2 | c.315G>T (p.Arg105Ser) c.93G>T (p.Arg31Ser) c.60G>T (p.Arg20Ser) | |
2 | g.31533733C>G | CA346598673 | SRD5A2 | c.315G>C (p.Arg105Ser) c.93G>C (p.Arg31Ser) c.60G>C (p.Arg20Ser) | |
2 | g.31533733C>T | CA425568474 | SRD5A2 | c.315G>A (p.Arg105=) c.93G>A (p.Arg31=) c.60G>A (p.Arg20=) | gnomAD v4 |
2 | g.31533734C>A | CA346598675 | SRD5A2 | c.314G>T (p.Arg105Met) c.92G>T (p.Arg31Met) c.59G>T (p.Arg20Met) | gnomAD v4 |
2 | g.31533734C= | CA1242199364 | SRD5A2 | c.314G= (p.Arg105=) c.92G= (p.Arg31=) c.59G= (p.Arg20=) | |
2 | g.31533734C>G | CA346598674 | SRD5A2 | c.314G>C (p.Arg105Thr) c.92G>C (p.Arg31Thr) c.59G>C (p.Arg20Thr) | COSMIC |
2 | g.31533734C>T | CA45136785 | SRD5A2 | c.314G>A (p.Arg105Lys) c.92G>A (p.Arg31Lys) c.59G>A (p.Arg20Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31533735T>A | CA346598676 | SRD5A2 | c.313A>T (p.Arg105Trp) c.91A>T (p.Arg31Trp) c.58A>T (p.Arg20Trp) | |
2 | g.31533735T>C | CA346598677 | SRD5A2 | c.313A>G (p.Arg105Gly) c.91A>G (p.Arg31Gly) c.58A>G (p.Arg20Gly) | |
2 | g.31533735T>G | CA425568477 | SRD5A2 | c.313A>C (p.Arg105=) c.91A>C (p.Arg31=) c.58A>C (p.Arg20=) | |
2 | g.31533736C>A | CA425568479 | SRD5A2 | c.312G>T (p.Gly104=) c.90G>T (p.Gly30=) c.57G>T (p.Gly19=) | gnomAD v4 |
2 | g.31533736C= | CA1242199365 | SRD5A2 | c.312G= (p.Gly104=) c.90G= (p.Gly30=) c.57G= (p.Gly19=) | |
2 | g.31533736C>G | CA425568481 | SRD5A2 | c.312G>C (p.Gly104=) c.90G>C (p.Gly30=) c.57G>C (p.Gly19=) | |
2 | g.31533736C>T | CA425568480 | SRD5A2 | c.312G>A (p.Gly104=) c.90G>A (p.Gly30=) c.57G>A (p.Gly19=) | ClinVar dbSNP gnomAD v2 |
2 | g.31533738del | CA2658499286 | SRD5A2 | c.312del (p.Arg105GlyfsTer26) c.90del (p.Arg31GlyfsTer26) c.57del (p.Arg20GlyfsTer26) | ClinVar gnomAD v4 |
2 | g.31533737C>A | CA346598678 | SRD5A2 | c.311G>T (p.Gly104Val) c.89G>T (p.Gly30Val) c.56G>T (p.Gly19Val) | gnomAD v4 |
2 | g.31533737C= | CA1242199366 | SRD5A2 | c.311G= (p.Gly104=) c.89G= (p.Gly30=) c.56G= (p.Gly19=) | |
2 | g.31533737C>G | CA346598679 | SRD5A2 | c.311G>C (p.Gly104Ala) c.89G>C (p.Gly30Ala) c.56G>C (p.Gly19Ala) | |
2 | g.31533737C>T | CA1599966 | SRD5A2 | c.311G>A (p.Gly104Glu) c.89G>A (p.Gly30Glu) c.56G>A (p.Gly19Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533738C>A | CA346598680 | SRD5A2 | c.310G>T (p.Gly104Trp) c.88G>T (p.Gly30Trp) c.55G>T (p.Gly19Trp) | dbSNP gnomAD v4 |
2 | g.31533738C= | CA1242199367 | SRD5A2 | c.310G= (p.Gly104=) c.88G= (p.Gly30=) c.55G= (p.Gly19=) | |
2 | g.31533738C>G | CA346598682 | SRD5A2 | c.310G>C (p.Gly104Arg) c.88G>C (p.Gly30Arg) c.55G>C (p.Gly19Arg) | dbSNP gnomAD v4 |
2 | g.31533738C>T | CA346598681 | SRD5A2 | c.310G>A (p.Gly104Arg) c.88G>A (p.Gly30Arg) c.55G>A (p.Gly19Arg) | |
2 | g.31533739T>A | CA425568486 | SRD5A2 | c.309A>T (p.Arg103=) c.87A>T (p.Arg29=) c.54A>T (p.Arg18=) | |
2 | g.31533739T>C | CA425568489 | SRD5A2 | c.309A>G (p.Arg103=) c.87A>G (p.Arg29=) c.54A>G (p.Arg18=) | |
2 | g.31533739T>G | CA425568487 | SRD5A2 | c.309A>C (p.Arg103=) c.87A>C (p.Arg29=) c.54A>C (p.Arg18=) | |
2 | g.31533740C>A | CA346598683 | SRD5A2 | c.308G>T (p.Arg103Leu) c.86G>T (p.Arg29Leu) c.53G>T (p.Arg18Leu) | gnomAD v4 |
2 | g.31533740C= | CA1242199368 | SRD5A2 | c.308G= (p.Arg103=) c.86G= (p.Arg29=) c.53G= (p.Arg18=) | |
2 | g.31533740C>G | CA346598684 | SRD5A2 | c.308G>C (p.Arg103Pro) c.86G>C (p.Arg29Pro) c.53G>C (p.Arg18Pro) | |
2 | g.31533740C>T | CA1599967 | SRD5A2 | c.308G>A (p.Arg103Gln) c.86G>A (p.Arg29Gln) c.53G>A (p.Arg18Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.31533741G>A | CA1599969 | SRD5A2 | c.307C>T (p.Arg103Ter) c.85C>T (p.Arg29Ter) c.52C>T (p.Arg18Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533741G>C | CA346598685 | SRD5A2 | c.307C>G (p.Arg103Gly) c.85C>G (p.Arg29Gly) c.52C>G (p.Arg18Gly) | |
2 | g.31533741G= | CA1242199369 | SRD5A2 | c.307C= (p.Arg103=) c.85C= (p.Arg29=) c.52C= (p.Arg18=) | |
2 | g.31533741G>T | CA1599968 | SRD5A2 | c.307C>A (p.Arg103=) c.85C>A (p.Arg29=) c.52C>A (p.Arg18=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533742A= | CA1242199370 | SRD5A2 | c.306T= (p.Asn102=) c.84T= (p.Asn28=) c.51T= (p.Asn17=) | |
2 | g.31533742A>C | CA346598686 | SRD5A2 | c.306T>G (p.Asn102Lys) c.84T>G (p.Asn28Lys) c.51T>G (p.Asn17Lys) | |
2 | g.31533742A>G | CA425568493 | SRD5A2 | c.306T>C (p.Asn102=) c.84T>C (p.Asn28=) c.51T>C (p.Asn17=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533742A>T | CA346598687 | SRD5A2 | c.306T>A (p.Asn102Lys) c.84T>A (p.Asn28Lys) c.51T>A (p.Asn17Lys) | dbSNP |
2 | g.31533743T>A | CA346598688 | SRD5A2 | c.305A>T (p.Asn102Ile) c.83A>T (p.Asn28Ile) c.50A>T (p.Asn17Ile) | |
2 | g.31533743T>C | CA346598689 | SRD5A2 | c.305A>G (p.Asn102Ser) c.83A>G (p.Asn28Ser) c.50A>G (p.Asn17Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.31533743T>G | CA346598690 | SRD5A2 | c.305A>C (p.Asn102Thr) c.83A>C (p.Asn28Thr) c.50A>C (p.Asn17Thr) | |
2 | g.31533743T= | CA1242199371 | SRD5A2 | c.305A= (p.Asn102=) c.83A= (p.Asn28=) c.50A= (p.Asn17=) | |
2 | g.31533744T>A | CA346598692 | SRD5A2 | c.304A>T (p.Asn102Tyr) c.82A>T (p.Asn28Tyr) c.49A>T (p.Asn17Tyr) | |
2 | g.31533744T>C | CA346598693 | SRD5A2 | c.304A>G (p.Asn102Asp) c.82A>G (p.Asn28Asp) c.49A>G (p.Asn17Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533744T>G | CA346598691 | SRD5A2 | c.304A>C (p.Asn102His) c.82A>C (p.Asn28His) c.49A>C (p.Asn17His) | |
2 | g.31533744T= | CA1242199372 | SRD5A2 | c.304A= (p.Asn102=) c.82A= (p.Asn28=) c.49A= (p.Asn17=) | |
2 | g.31533745G>A | CA425568499 | SRD5A2 | c.303C>T (p.Leu101=) c.81C>T (p.Leu27=) c.48C>T (p.Leu16=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533745G>C | CA425568501 | SRD5A2 | c.303C>G (p.Leu101=) c.81C>G (p.Leu27=) c.48C>G (p.Leu16=) | |
2 | g.31533745G= | CA1242199373 | SRD5A2 | c.303C= (p.Leu101=) c.81C= (p.Leu27=) c.48C= (p.Leu16=) | |
2 | g.31533745G>T | CA425568503 | SRD5A2 | c.303C>A (p.Leu101=) c.81C>A (p.Leu27=) c.48C>A (p.Leu16=) | gnomAD v4 |
2 | g.31533746A>C | CA346598696 | SRD5A2 | c.302T>G (p.Leu101Arg) c.80T>G (p.Leu27Arg) c.47T>G (p.Leu16Arg) | |
2 | g.31533746A>G | CA346598694 | SRD5A2 | c.302T>C (p.Leu101Pro) c.80T>C (p.Leu27Pro) c.47T>C (p.Leu16Pro) | gnomAD v4 |
2 | g.31533746A>T | CA346598695 | SRD5A2 | c.302T>A (p.Leu101His) c.80T>A (p.Leu27His) c.47T>A (p.Leu16His) | |
2 | g.31533747G>A | CA1599970 | SRD5A2 | c.301C>T (p.Leu101Phe) c.79C>T (p.Leu27Phe) c.46C>T (p.Leu16Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533747G>C | CA346598697 | SRD5A2 | c.301C>G (p.Leu101Val) c.79C>G (p.Leu27Val) c.46C>G (p.Leu16Val) | gnomAD v4 |
2 | g.31533747G= | CA1242199374 | SRD5A2 | c.301C= (p.Leu101=) c.79C= (p.Leu27=) c.46C= (p.Leu16=) | |
2 | g.31533747G>T | CA346598698 | SRD5A2 | c.301C>A (p.Leu101Ile) c.79C>A (p.Leu27Ile) c.46C>A (p.Leu16Ile) | gnomAD v4 |
2 | g.31533748C>A | CA425568509 | SRD5A2 | c.300G>T (p.Leu100=) c.78G>T (p.Leu26=) c.45G>T (p.Leu15=) | gnomAD v4 |
2 | g.31533748C= | CA1242199375 | SRD5A2 | c.300G= (p.Leu100=) c.78G= (p.Leu26=) c.45G= (p.Leu15=) | |
2 | g.31533748C>G | CA425568511 | SRD5A2 | c.300G>C (p.Leu100=) c.78G>C (p.Leu26=) c.45G>C (p.Leu15=) | |
2 | g.31533748C>T | CA1599971 | SRD5A2 | c.300G>A (p.Leu100=) c.78G>A (p.Leu26=) c.45G>A (p.Leu15=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533749A>C | CA346598701 | SRD5A2 | c.299T>G (p.Leu100Arg) c.77T>G (p.Leu26Arg) c.44T>G (p.Leu15Arg) | |
2 | g.31533749A>G | CA346598699 | SRD5A2 | c.299T>C (p.Leu100Pro) c.77T>C (p.Leu26Pro) c.44T>C (p.Leu15Pro) | gnomAD v4 |
2 | g.31533749A>T | CA346598700 | SRD5A2 | c.299T>A (p.Leu100Gln) c.77T>A (p.Leu26Gln) c.44T>A (p.Leu15Gln) | gnomAD v4 |
2 | g.31533750G>A | CA425568514 | SRD5A2 | c.298C>T (p.Leu100=) c.76C>T (p.Leu26=) c.43C>T (p.Leu15=) | gnomAD v4 |
2 | g.31533750G>C | CA346598702 | SRD5A2 | c.298C>G (p.Leu100Val) c.76C>G (p.Leu26Val) c.43C>G (p.Leu15Val) | |
2 | g.31533750G>T | CA346598703 | SRD5A2 | c.298C>A (p.Leu100Met) c.76C>A (p.Leu26Met) c.43C>A (p.Leu15Met) | |
2 | g.31533751T>A | CA425568517 | SRD5A2 | c.297A>T (p.Ser99=) c.75A>T (p.Ser25=) c.42A>T (p.Ser14=) | |
2 | g.31533751T>C | CA425568518 | SRD5A2 | c.297A>G (p.Ser99=) c.75A>G (p.Ser25=) c.42A>G (p.Ser14=) | |
2 | g.31533751T>G | CA425568519 | SRD5A2 | c.297A>C (p.Ser99=) c.75A>C (p.Ser25=) c.42A>C (p.Ser14=) | |
2 | g.31533752G>A | CA346598704 | SRD5A2 | c.296C>T (p.Ser99Leu) c.74C>T (p.Ser25Leu) c.41C>T (p.Ser14Leu) | gnomAD v4 |
2 | g.31533752G>C | CA346598705 | SRD5A2 | c.296C>G (p.Ser99Ter) c.74C>G (p.Ser25Ter) c.41C>G (p.Ser14Ter) | |
2 | g.31533752G>T | CA346598706 | SRD5A2 | c.296C>A (p.Ser99Ter) c.74C>A (p.Ser25Ter) c.41C>A (p.Ser14Ter) | gnomAD v4 |
2 | g.31533753A>C | CA346598707 | SRD5A2 | c.295T>G (p.Ser99Ala) c.73T>G (p.Ser25Ala) c.40T>G (p.Ser14Ala) | |
2 | g.31533753A>G | CA346598709 | SRD5A2 | c.295T>C (p.Ser99Pro) c.73T>C (p.Ser25Pro) c.40T>C (p.Ser14Pro) | |
2 | g.31533753A>T | CA346598708 | SRD5A2 | c.295T>A (p.Ser99Thr) c.73T>A (p.Ser25Thr) c.40T>A (p.Ser14Thr) | |
2 | g.31533754G>A | CA425568525 | SRD5A2 | c.294C>T (p.Tyr98=) c.72C>T (p.Tyr24=) c.39C>T (p.Tyr13=) | gnomAD v4 |
2 | g.31533754G>C | CA346598710 | SRD5A2 | c.294C>G (p.Tyr98Ter) c.72C>G (p.Tyr24Ter) c.39C>G (p.Tyr13Ter) | |
2 | g.31533754G>T | CA346598711 | SRD5A2 | c.294C>A (p.Tyr98Ter) c.72C>A (p.Tyr24Ter) c.39C>A (p.Tyr13Ter) | |
2 | g.31533755del | CA2658499287 | SRD5A2 | c.293del (p.Tyr98SerfsTer?) c.71del (p.Tyr24SerfsTer?) c.38del (p.Tyr13SerfsTer?) | gnomAD v4 |
2 | g.31533755T>A | CA346598712 | SRD5A2 | c.293A>T (p.Tyr98Phe) c.71A>T (p.Tyr24Phe) c.38A>T (p.Tyr13Phe) | |
2 | g.31533755T>C | CA346598713 | SRD5A2 | c.293A>G (p.Tyr98Cys) c.71A>G (p.Tyr24Cys) c.38A>G (p.Tyr13Cys) | gnomAD v4 |
2 | g.31533755T>G | CA346598714 | SRD5A2 | c.293A>C (p.Tyr98Ser) c.71A>C (p.Tyr24Ser) c.38A>C (p.Tyr13Ser) | |
2 | g.31533756A>C | CA346598715 | SRD5A2 | c.292T>G (p.Tyr98Asp) c.70T>G (p.Tyr24Asp) c.37T>G (p.Tyr13Asp) | |
2 | g.31533756A>G | CA346598716 | SRD5A2 | c.292T>C (p.Tyr98His) c.70T>C (p.Tyr24His) c.37T>C (p.Tyr13His) | gnomAD v4 |
2 | g.31533756A>T | CA346598717 | SRD5A2 | c.292T>A (p.Tyr98Asn) c.70T>A (p.Tyr24Asn) c.37T>A (p.Tyr13Asn) | |
2 | g.31533759_31533760del | CA2658499288 | SRD5A2 | c.291_292del (p.Tyr98LeufsTer?) c.69_70del (p.Tyr24LeufsTer?) c.36_37del (p.Tyr13LeufsTer?) | gnomAD v4 |
2 | g.31533757C>A | CA425568532 | SRD5A2 | c.291G>T (p.Val97=) c.69G>T (p.Val23=) c.36G>T (p.Val12=) | gnomAD v4 |
2 | g.31533757C= | CA1242199376 | SRD5A2 | c.291G= (p.Val97=) c.69G= (p.Val23=) c.36G= (p.Val12=) | |
2 | g.31533757C>G | CA425568533 | SRD5A2 | c.291G>C (p.Val97=) c.69G>C (p.Val23=) c.36G>C (p.Val12=) | |
2 | g.31533757C>T | CA425568534 | SRD5A2 | c.291G>A (p.Val97=) c.69G>A (p.Val23=) c.36G>A (p.Val12=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533758A>C | CA346598718 | SRD5A2 | c.290T>G (p.Val97Gly) c.68T>G (p.Val23Gly) c.35T>G (p.Val12Gly) | |
2 | g.31533758A>G | CA346598719 | SRD5A2 | c.290T>C (p.Val97Ala) c.68T>C (p.Val23Ala) c.35T>C (p.Val12Ala) | |
2 | g.31533758A>T | CA346598720 | SRD5A2 | c.290T>A (p.Val97Glu) c.68T>A (p.Val23Glu) c.35T>A (p.Val12Glu) | |
2 | g.31533759C>A | CA346598722 | SRD5A2 | c.289G>T (p.Val97Leu) c.67G>T (p.Val23Leu) c.34G>T (p.Val12Leu) | gnomAD v4 |
2 | g.31533759C= | CA1242199377 | SRD5A2 | c.289G= (p.Val97=) c.67G= (p.Val23=) c.34G= (p.Val12=) | |
2 | g.31533759C>G | CA1599972 | SRD5A2 | c.289G>C (p.Val97Leu) c.67G>C (p.Val23Leu) c.34G>C (p.Val12Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533759C>T | CA346598721 | SRD5A2 | c.289G>A (p.Val97Met) c.67G>A (p.Val23Met) c.34G>A (p.Val12Met) | gnomAD v4 |
2 | g.31533760A= | CA1242199378 | SRD5A2 | c.288T= (p.Phe96=) c.66T= (p.Phe22=) c.33T= (p.Phe11=) | |
2 | g.31533760A>C | CA1599973 | SRD5A2 | c.288T>G (p.Phe96Leu) c.66T>G (p.Phe22Leu) c.33T>G (p.Phe11Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533760A>G | CA425568539 | SRD5A2 | c.288T>C (p.Phe96=) c.66T>C (p.Phe22=) c.33T>C (p.Phe11=) | gnomAD v4 COSMIC |
2 | g.31533760A>T | CA346598723 | SRD5A2 | c.288T>A (p.Phe96Leu) c.66T>A (p.Phe22Leu) c.33T>A (p.Phe11Leu) | |
2 | g.31533761A>C | CA346598724 | SRD5A2 | c.287T>G (p.Phe96Cys) c.65T>G (p.Phe22Cys) c.32T>G (p.Phe11Cys) | |
2 | g.31533761A>G | CA346598725 | SRD5A2 | c.287T>C (p.Phe96Ser) c.65T>C (p.Phe22Ser) c.32T>C (p.Phe11Ser) | gnomAD v4 |
2 | g.31533761A>T | CA346598726 | SRD5A2 | c.287T>A (p.Phe96Tyr) c.65T>A (p.Phe22Tyr) c.32T>A (p.Phe11Tyr) | |
2 | g.31533762A>C | CA346598727 | SRD5A2 | c.286T>G (p.Phe96Val) c.64T>G (p.Phe22Val) c.31T>G (p.Phe11Val) | |
2 | g.31533762A>G | CA346598728 | SRD5A2 | c.286T>C (p.Phe96Leu) c.64T>C (p.Phe22Leu) c.31T>C (p.Phe11Leu) | |
2 | g.31533762A>T | CA346598729 | SRD5A2 | c.286T>A (p.Phe96Ile) c.64T>A (p.Phe22Ile) c.31T>A (p.Phe11Ile) | COSMIC |