| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43074482C>T | CA002893 | BRCA1 | c.4521G>A (p.Trp1507Ter) c.4524G>A (p.Trp1508Ter) c.4398G>A (p.Trp1466Ter) c.4518G>A (p.Trp1506Ter) c.4446G>A (p.Trp1482Ter) c.1212G>A (p.Trp404Ter) c.1074G>A (p.Trp358Ter) c.3636G>A (p.Trp1212Ter) c.4401G>A (p.Trp1467Ter) c.4590G>A (p.Trp1530Ter) c.4383G>A (p.Trp1461Ter) c.1086G>A (p.Trp362Ter) c.1131G>A (p.Trp377Ter) c.4587G>A (p.Trp1529Ter) c.911G>A c.1098G>A (p.Trp366Ter) c.*4307G>A (n.*4307G>A) c.837G>A (p.Trp279Ter) c.5-10531G>A (n.5-10531G>A) c.-4G>A (n.-4G>A) c.-98-24292G>A (n.-98-24292G>A) n.4660G>A n.4701G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.43074482C>G | CA10592476 | BRCA1 | c.4521G>C (p.Trp1507Cys) c.4524G>C (p.Trp1508Cys) c.4398G>C (p.Trp1466Cys) c.4518G>C (p.Trp1506Cys) c.4446G>C (p.Trp1482Cys) c.1212G>C (p.Trp404Cys) c.1074G>C (p.Trp358Cys) c.3636G>C (p.Trp1212Cys) c.4401G>C (p.Trp1467Cys) c.4590G>C (p.Trp1530Cys) c.4383G>C (p.Trp1461Cys) c.1086G>C (p.Trp362Cys) c.1131G>C (p.Trp377Cys) c.4587G>C (p.Trp1529Cys) c.911G>C c.1098G>C (p.Trp366Cys) c.*4307G>C (n.*4307G>C) c.837G>C (p.Trp279Cys) c.5-10531G>C (n.5-10531G>C) c.-4G>C (n.-4G>C) c.-98-24292G>C (n.-98-24292G>C) n.4660G>C n.4701G>C | dbSNP |
| 17 | g.43074482C>A | CA10592475 | BRCA1 | c.4521G>T (p.Trp1507Cys) c.4524G>T (p.Trp1508Cys) c.4398G>T (p.Trp1466Cys) c.4518G>T (p.Trp1506Cys) c.4446G>T (p.Trp1482Cys) c.1212G>T (p.Trp404Cys) c.1074G>T (p.Trp358Cys) c.3636G>T (p.Trp1212Cys) c.4401G>T (p.Trp1467Cys) c.4590G>T (p.Trp1530Cys) c.4383G>T (p.Trp1461Cys) c.1086G>T (p.Trp362Cys) c.1131G>T (p.Trp377Cys) c.4587G>T (p.Trp1529Cys) c.911G>T c.1098G>T (p.Trp366Cys) c.*4307G>T (n.*4307G>T) c.837G>T (p.Trp279Cys) c.5-10531G>T (n.5-10531G>T) c.-4G>T (n.-4G>T) c.-98-24292G>T (n.-98-24292G>T) n.4660G>T n.4701G>T | dbSNP COSMIC COSMIC |