| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43076504C>A | CA002864 | BRCA1 | c.4465G>T (p.Glu1489Ter) c.4468G>T (p.Glu1490Ter) c.4342G>T (p.Glu1448Ter) c.4462G>T (p.Glu1488Ter) c.4390G>T (p.Glu1464Ter) c.1156G>T (p.Glu386Ter) c.1018G>T (p.Glu340Ter) c.3580G>T (p.Glu1194Ter) c.4345G>T (p.Glu1449Ter) c.4534G>T (p.Glu1512Ter) c.4327G>T (p.Glu1443Ter) c.1030G>T (p.Glu344Ter) c.1075G>T (p.Glu359Ter) c.4531G>T (p.Glu1511Ter) c.855G>T c.1042G>T (p.Glu348Ter) c.*4251G>T (n.*4251G>T) c.781G>T (p.Glu261Ter) c.784G>T (p.Glu262Ter) c.5-12553G>T (n.5-12553G>T) c.-43-1983G>T (n.-43-1983G>T) c.-98-26314G>T (n.-98-26314G>T) n.359G>T n.4604G>T n.4645G>T | ClinVar dbSNP |
| 17 | g.43076504C>T | CA10592596 | BRCA1 | c.4465G>A (p.Glu1489Lys) c.4468G>A (p.Glu1490Lys) c.4342G>A (p.Glu1448Lys) c.4462G>A (p.Glu1488Lys) c.4390G>A (p.Glu1464Lys) c.1156G>A (p.Glu386Lys) c.1018G>A (p.Glu340Lys) c.3580G>A (p.Glu1194Lys) c.4345G>A (p.Glu1449Lys) c.4534G>A (p.Glu1512Lys) c.4327G>A (p.Glu1443Lys) c.1030G>A (p.Glu344Lys) c.1075G>A (p.Glu359Lys) c.4531G>A (p.Glu1511Lys) c.855G>A c.1042G>A (p.Glu348Lys) c.*4251G>A (n.*4251G>A) c.781G>A (p.Glu261Lys) c.784G>A (p.Glu262Lys) c.5-12553G>A (n.5-12553G>A) c.-43-1983G>A (n.-43-1983G>A) c.-98-26314G>A (n.-98-26314G>A) n.359G>A n.4604G>A n.4645G>A | dbSNP gnomAD v2 gnomAD v4 |