| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43082518C>T | CA10593237 | BRCA1 | c.4243G>A (p.Glu1415Lys) c.4117G>A (p.Glu1373Lys) c.4237G>A (p.Glu1413Lys) c.4165G>A (p.Glu1389Lys) c.931G>A (p.Glu311Lys) c.793G>A (p.Glu265Lys) c.3355G>A (p.Glu1119Lys) c.4120G>A (p.Glu1374Lys) c.4102G>A (p.Glu1368Lys) c.808G>A (p.Glu270Lys) c.853G>A (p.Glu285Lys) c.564G>A c.817G>A (p.Glu273Lys) c.*4026G>A (n.*4026G>A) c.537G>A c.934G>A (p.Glu312Lys) c.556G>A (p.Glu186Lys) c.559G>A (p.Glu187Lys) c.5-18567G>A (n.5-18567G>A) c.-43-7997G>A (n.-43-7997G>A) c.-98-32328G>A (n.-98-32328G>A) n.137G>A n.4379G>A n.4420G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.43082518C>G | CA10593236 | BRCA1 | c.4243G>C (p.Glu1415Gln) c.4117G>C (p.Glu1373Gln) c.4237G>C (p.Glu1413Gln) c.4165G>C (p.Glu1389Gln) c.931G>C (p.Glu311Gln) c.793G>C (p.Glu265Gln) c.3355G>C (p.Glu1119Gln) c.4120G>C (p.Glu1374Gln) c.4102G>C (p.Glu1368Gln) c.808G>C (p.Glu270Gln) c.853G>C (p.Glu285Gln) c.564G>C c.817G>C (p.Glu273Gln) c.*4026G>C (n.*4026G>C) c.537G>C c.934G>C (p.Glu312Gln) c.556G>C (p.Glu186Gln) c.559G>C (p.Glu187Gln) c.5-18567G>C (n.5-18567G>C) c.-43-7997G>C (n.-43-7997G>C) c.-98-32328G>C (n.-98-32328G>C) n.137G>C n.4379G>C n.4420G>C | ClinVar dbSNP |
| 17 | g.43082518C>A | CA10593235 | BRCA1 | c.4243G>T (p.Glu1415Ter) c.4117G>T (p.Glu1373Ter) c.4237G>T (p.Glu1413Ter) c.4165G>T (p.Glu1389Ter) c.931G>T (p.Glu311Ter) c.793G>T (p.Glu265Ter) c.3355G>T (p.Glu1119Ter) c.4120G>T (p.Glu1374Ter) c.4102G>T (p.Glu1368Ter) c.808G>T (p.Glu270Ter) c.853G>T (p.Glu285Ter) c.564G>T c.817G>T (p.Glu273Ter) c.*4026G>T (n.*4026G>T) c.537G>T c.934G>T (p.Glu312Ter) c.556G>T (p.Glu186Ter) c.559G>T (p.Glu187Ter) c.5-18567G>T (n.5-18567G>T) c.-43-7997G>T (n.-43-7997G>T) c.-98-32328G>T (n.-98-32328G>T) n.137G>T n.4379G>T n.4420G>T | ClinVar dbSNP |
| 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 |