| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43091012C>T | CA10593494 | BRCA1 | c.4117G>A (p.Glu1373Lys) c.3991G>A (p.Glu1331Lys) c.4114G>A (p.Glu1372Lys) c.4039G>A (p.Glu1347Lys) c.805G>A (p.Glu269Lys) c.667G>A (p.Glu223Lys) c.3229G>A (p.Glu1077Lys) c.3994G>A (p.Glu1332Lys) c.3976G>A (p.Glu1326Lys) c.685G>A (p.Glu229Lys) c.727G>A (p.Glu243Lys) c.438G>A c.691G>A (p.Glu231Lys) c.*3900G>A (n.*3900G>A) c.411G>A c.808G>A (p.Glu270Lys) c.430G>A (p.Glu144Lys) c.433G>A (p.Glu145Lys) c.5-27061G>A (n.5-27061G>A) c.-43-16491G>A (n.-43-16491G>A) c.-99+34259G>A (n.-99+34259G>A) n.4253G>A n.4294G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.43091012C>G | CA10593493 | BRCA1 | c.4117G>C (p.Glu1373Gln) c.3991G>C (p.Glu1331Gln) c.4114G>C (p.Glu1372Gln) c.4039G>C (p.Glu1347Gln) c.805G>C (p.Glu269Gln) c.667G>C (p.Glu223Gln) c.3229G>C (p.Glu1077Gln) c.3994G>C (p.Glu1332Gln) c.3976G>C (p.Glu1326Gln) c.685G>C (p.Glu229Gln) c.727G>C (p.Glu243Gln) c.438G>C c.691G>C (p.Glu231Gln) c.*3900G>C (n.*3900G>C) c.411G>C c.808G>C (p.Glu270Gln) c.430G>C (p.Glu144Gln) c.433G>C (p.Glu145Gln) c.5-27061G>C (n.5-27061G>C) c.-43-16491G>C (n.-43-16491G>C) c.-99+34259G>C (n.-99+34259G>C) n.4253G>C n.4294G>C | dbSNP |
| 17 | g.43091012C>A | CA002641 | BRCA1 | c.4117G>T (p.Glu1373Ter) c.3991G>T (p.Glu1331Ter) c.4114G>T (p.Glu1372Ter) c.4039G>T (p.Glu1347Ter) c.805G>T (p.Glu269Ter) c.667G>T (p.Glu223Ter) c.3229G>T (p.Glu1077Ter) c.3994G>T (p.Glu1332Ter) c.3976G>T (p.Glu1326Ter) c.685G>T (p.Glu229Ter) c.727G>T (p.Glu243Ter) c.438G>T c.691G>T (p.Glu231Ter) c.*3900G>T (n.*3900G>T) c.411G>T c.808G>T (p.Glu270Ter) c.430G>T (p.Glu144Ter) c.433G>T (p.Glu145Ter) c.5-27061G>T (n.5-27061G>T) c.-43-16491G>T (n.-43-16491G>T) c.-99+34259G>T (n.-99+34259G>T) n.4253G>T n.4294G>T | ClinVar dbSNP gnomAD v4 |