Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |