Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.31529370G>A | CA346597966 | SRD5A2 | c.635C>T (p.Pro212Leu) c.413C>T (p.Pro138Leu) c.380C>T (p.Pro127Leu) | |
2 | g.31529370G>C | CA340083 | SRD5A2 | c.635C>G (p.Pro212Arg) c.413C>G (p.Pro138Arg) c.380C>G (p.Pro127Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31529370G= | CA1242197393 | SRD5A2 | c.635C= (p.Pro212=) c.413C= (p.Pro138=) c.380C= (p.Pro127=) | |
2 | g.31529370G>T | CA346597967 | SRD5A2 | c.635C>A (p.Pro212Gln) c.413C>A (p.Pro138Gln) c.380C>A (p.Pro127Gln) | COSMIC |
2 | g.31529370_31529371delinsCA | CA2586969025 | SRD5A2 | c.634_635delinsTG (p.Pro212Ter) c.412_413delinsTG (p.Pro138Ter) c.379_380delinsTG (p.Pro127Ter) | |
2 | g.31529371G>A | CA1599874 | SRD5A2 | c.634C>T (p.Pro212Ser) c.412C>T (p.Pro138Ser) c.379C>T (p.Pro127Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31529371G>C | CA346597968 | SRD5A2 | c.634C>G (p.Pro212Ala) c.412C>G (p.Pro138Ala) c.379C>G (p.Pro127Ala) | |
2 | g.31529371G= | CA1242197394 | SRD5A2 | c.634C= (p.Pro212=) c.412C= (p.Pro138=) c.379C= (p.Pro127=) | |
2 | g.31529371G>T | CA346597969 | SRD5A2 | c.634C>A (p.Pro212Thr) c.412C>A (p.Pro138Thr) c.379C>A (p.Pro127Thr) | COSMIC |
2 | g.31529372G>A | CA425567445 | SRD5A2 | c.633C>T (p.Leu211=) c.411C>T (p.Leu137=) c.378C>T (p.Leu126=) | dbSNP gnomAD v4 |
2 | g.31529372G>C | CA425567444 | SRD5A2 | c.633C>G (p.Leu211=) c.411C>G (p.Leu137=) c.378C>G (p.Leu126=) | |
2 | g.31529372G= | CA1242197395 | SRD5A2 | c.633C= (p.Leu211=) c.411C= (p.Leu137=) c.378C= (p.Leu126=) | |
2 | g.31529372G>T | CA425567443 | SRD5A2 | c.633C>A (p.Leu211=) c.411C>A (p.Leu137=) c.378C>A (p.Leu126=) | |
2 | g.31529373A>C | CA346597970 | SRD5A2 | c.632T>G (p.Leu211Arg) c.410T>G (p.Leu137Arg) c.377T>G (p.Leu126Arg) | |
2 | g.31529373A>G | CA346597971 | SRD5A2 | c.632T>C (p.Leu211Pro) c.410T>C (p.Leu137Pro) c.377T>C (p.Leu126Pro) | |
2 | g.31529373A>T | CA346597972 | SRD5A2 | c.632T>A (p.Leu211His) c.410T>A (p.Leu137His) c.377T>A (p.Leu126His) | |
2 | g.31529374G>A | CA346597975 | SRD5A2 | c.631C>T (p.Leu211Phe) c.409C>T (p.Leu137Phe) c.376C>T (p.Leu126Phe) | dbSNP gnomAD v4 COSMIC |
2 | g.31529374G>C | CA346597974 | SRD5A2 | c.631C>G (p.Leu211Val) c.409C>G (p.Leu137Val) c.376C>G (p.Leu126Val) | |
2 | g.31529374G>T | CA346597973 | SRD5A2 | c.631C>A (p.Leu211Ile) c.409C>A (p.Leu137Ile) c.376C>A (p.Leu126Ile) | |
2 | g.31529375G>A | CA425567446 | SRD5A2 | c.630C>T (p.Ser210=) c.408C>T (p.Ser136=) c.375C>T (p.Ser125=) | dbSNP gnomAD v4 |
2 | g.31529375G>C | CA425567447 | SRD5A2 | c.630C>G (p.Ser210=) c.408C>G (p.Ser136=) c.375C>G (p.Ser125=) | |
2 | g.31529375G= | CA1242197396 | SRD5A2 | c.630C= (p.Ser210=) c.408C= (p.Ser136=) c.375C= (p.Ser125=) | |
2 | g.31529375G>T | CA425567448 | SRD5A2 | c.630C>A (p.Ser210=) c.408C>A (p.Ser136=) c.375C>A (p.Ser125=) | |
2 | g.31529376G>A | CA346597976 | SRD5A2 | c.629C>T (p.Ser210Phe) c.407C>T (p.Ser136Phe) c.374C>T (p.Ser125Phe) | |
2 | g.31529376G>C | CA346597977 | SRD5A2 | c.629C>G (p.Ser210Cys) c.407C>G (p.Ser136Cys) c.374C>G (p.Ser125Cys) | gnomAD v4 |
2 | g.31529376G>T | CA346597978 | SRD5A2 | c.629C>A (p.Ser210Tyr) c.407C>A (p.Ser136Tyr) c.374C>A (p.Ser125Tyr) | gnomAD v4 |
2 | g.31529377A>C | CA346597979 | SRD5A2 | c.628T>G (p.Ser210Ala) c.406T>G (p.Ser136Ala) c.373T>G (p.Ser125Ala) | |
2 | g.31529377A>G | CA346597980 | SRD5A2 | c.628T>C (p.Ser210Pro) c.406T>C (p.Ser136Pro) c.373T>C (p.Ser125Pro) | |
2 | g.31529377A>T | CA346597981 | SRD5A2 | c.628T>A (p.Ser210Thr) c.406T>A (p.Ser136Thr) c.373T>A (p.Ser125Thr) | gnomAD v4 |
2 | g.31529378C>A | CA346597982 | SRD5A2 | c.627G>T (p.Trp209Cys) c.405G>T (p.Trp135Cys) c.372G>T (p.Trp124Cys) | |
2 | g.31529378C>G | CA346597983 | SRD5A2 | c.627G>C (p.Trp209Cys) c.405G>C (p.Trp135Cys) c.372G>C (p.Trp124Cys) | |
2 | g.31529378C>T | CA346597984 | SRD5A2 | c.627G>A (p.Trp209Ter) c.405G>A (p.Trp135Ter) c.372G>A (p.Trp124Ter) | gnomAD v4 |
2 | g.31529379C>A | CA346597985 | SRD5A2 | c.626G>T (p.Trp209Leu) c.404G>T (p.Trp135Leu) c.371G>T (p.Trp124Leu) | |
2 | g.31529379C>G | CA346597986 | SRD5A2 | c.626G>C (p.Trp209Ser) c.404G>C (p.Trp135Ser) c.371G>C (p.Trp124Ser) | |
2 | g.31529379C>T | CA346597987 | SRD5A2 | c.626G>A (p.Trp209Ter) c.404G>A (p.Trp135Ter) c.371G>A (p.Trp124Ter) | |
2 | g.31529380A= | CA1242197397 | SRD5A2 | c.625T= (p.Trp209=) c.403T= (p.Trp135=) c.370T= (p.Trp124=) | |
2 | g.31529380A>C | CA346597989 | SRD5A2 | c.625T>G (p.Trp209Gly) c.403T>G (p.Trp135Gly) c.370T>G (p.Trp124Gly) | |
2 | g.31529380A>G | CA346597990 | SRD5A2 | c.625T>C (p.Trp209Arg) c.403T>C (p.Trp135Arg) c.370T>C (p.Trp124Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31529380A>T | CA346597988 | SRD5A2 | c.625T>A (p.Trp209Arg) c.403T>A (p.Trp135Arg) c.370T>A (p.Trp124Arg) | |
2 | g.31529381A>C | CA425567449 | SRD5A2 | c.624T>G (p.Thr208=) c.402T>G (p.Thr134=) c.369T>G (p.Thr123=) | |
2 | g.31529381A>G | CA425567450 | SRD5A2 | c.624T>C (p.Thr208=) c.402T>C (p.Thr134=) c.369T>C (p.Thr123=) | |
2 | g.31529381A>T | CA425567451 | SRD5A2 | c.624T>A (p.Thr208=) c.402T>A (p.Thr134=) c.369T>A (p.Thr123=) | |
2 | g.31529382G>A | CA1599875 | SRD5A2 | c.623C>T (p.Thr208Ile) c.401C>T (p.Thr134Ile) c.368C>T (p.Thr123Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31529382G>C | CA346597991 | SRD5A2 | c.623C>G (p.Thr208Ser) c.401C>G (p.Thr134Ser) c.368C>G (p.Thr123Ser) | gnomAD v4 |
2 | g.31529382G= | CA1242197398 | SRD5A2 | c.623C= (p.Thr208=) c.401C= (p.Thr134=) c.368C= (p.Thr123=) | |
2 | g.31529382G>T | CA346597992 | SRD5A2 | c.623C>A (p.Thr208Asn) c.401C>A (p.Thr134Asn) c.368C>A (p.Thr123Asn) | |
2 | g.31529383T>A | CA346597993 | SRD5A2 | c.622A>T (p.Thr208Ser) c.400A>T (p.Thr134Ser) c.367A>T (p.Thr123Ser) | |
2 | g.31529383T>C | CA346597994 | SRD5A2 | c.622A>G (p.Thr208Ala) c.400A>G (p.Thr134Ala) c.367A>G (p.Thr123Ala) | dbSNP gnomAD v4 |
2 | g.31529383T>G | CA346597995 | SRD5A2 | c.622A>C (p.Thr208Pro) c.400A>C (p.Thr134Pro) c.367A>C (p.Thr123Pro) | |
2 | g.31529383T= | CA1242197399 | SRD5A2 | c.622A= (p.Thr208=) c.400A= (p.Thr134=) c.367A= (p.Thr123=) |