| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43082518del | CA002727 | BRCA1 | c.4243del (p.Glu1415LysfsTer4) c.4117del (p.Glu1373LysfsTer4) c.4237del (p.Glu1413LysfsTer4) c.4165del (p.Glu1389LysfsTer4) c.931del (p.Glu311LysfsTer4) c.793del (p.Glu265LysfsTer4) c.3355del (p.Glu1119LysfsTer4) c.4120del (p.Glu1374LysfsTer4) c.4102del (p.Glu1368LysfsTer4) c.808del (p.Glu270LysfsTer4) c.853del (p.Glu285LysfsTer4) c.564del c.817del (p.Glu273LysfsTer4) c.*4026del (n.*4026del) c.537del c.934del (p.Glu312LysfsTer4) c.556del (p.Glu186LysfsTer4) c.559del (p.Glu187LysfsTer4) c.5-18567del (n.5-18567del) c.-43-7997del (n.-43-7997del) c.-98-32328del (n.-98-32328del) n.137del n.4379del n.4420del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43082518C= | CA2260778041 | BRCA1 | c.4243G= (p.Glu1415=) c.4117G= (p.Glu1373=) c.4237G= (p.Glu1413=) c.4165G= (p.Glu1389=) c.931G= (p.Glu311=) c.793G= (p.Glu265=) c.3355G= (p.Glu1119=) c.4120G= (p.Glu1374=) c.4102G= (p.Glu1368=) c.808G= (p.Glu270=) c.853G= (p.Glu285=) c.564G= c.817G= (p.Glu273=) c.*4026G= (n.*4026G=) c.537G= c.934G= (p.Glu312=) c.556G= (p.Glu186=) c.559G= (p.Glu187=) c.5-18567G= (n.5-18567G=) c.-43-7997G= (n.-43-7997G=) c.-98-32328G= (n.-98-32328G=) n.137G= n.4379G= n.4420G= | dbSNP dbSNP |