| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43091030C>T | CA10584557 | BRCA1 | c.4099G>A (p.Glu1367Lys) c.3973G>A (p.Glu1325Lys) c.4096G>A (p.Glu1366Lys) c.4021G>A (p.Glu1341Lys) c.787G>A (p.Glu263Lys) c.649G>A (p.Glu217Lys) c.3211G>A (p.Glu1071Lys) c.3976G>A (p.Glu1326Lys) c.3958G>A (p.Glu1320Lys) c.667G>A (p.Glu223Lys) c.709G>A (p.Glu237Lys) c.420G>A c.673G>A (p.Glu225Lys) c.*3882G>A (n.*3882G>A) c.393G>A c.790G>A (p.Glu264Lys) c.412G>A (p.Glu138Lys) c.415G>A (p.Glu139Lys) c.5-27079G>A (n.5-27079G>A) c.-43-16509G>A (n.-43-16509G>A) c.-99+34241G>A (n.-99+34241G>A) n.4235G>A n.4276G>A | ClinVar dbSNP |
| 17 | g.43091030C>G | CA10593527 | BRCA1 | c.4099G>C (p.Glu1367Gln) c.3973G>C (p.Glu1325Gln) c.4096G>C (p.Glu1366Gln) c.4021G>C (p.Glu1341Gln) c.787G>C (p.Glu263Gln) c.649G>C (p.Glu217Gln) c.3211G>C (p.Glu1071Gln) c.3976G>C (p.Glu1326Gln) c.3958G>C (p.Glu1320Gln) c.667G>C (p.Glu223Gln) c.709G>C (p.Glu237Gln) c.420G>C c.673G>C (p.Glu225Gln) c.*3882G>C (n.*3882G>C) c.393G>C c.790G>C (p.Glu264Gln) c.412G>C (p.Glu138Gln) c.415G>C (p.Glu139Gln) c.5-27079G>C (n.5-27079G>C) c.-43-16509G>C (n.-43-16509G>C) c.-99+34241G>C (n.-99+34241G>C) n.4235G>C n.4276G>C | dbSNP COSMIC COSMIC |
| 17 | g.43091030C>A | CA002630 | BRCA1 | c.4099G>T (p.Glu1367Ter) c.3973G>T (p.Glu1325Ter) c.4096G>T (p.Glu1366Ter) c.4021G>T (p.Glu1341Ter) c.787G>T (p.Glu263Ter) c.649G>T (p.Glu217Ter) c.3211G>T (p.Glu1071Ter) c.3976G>T (p.Glu1326Ter) c.3958G>T (p.Glu1320Ter) c.667G>T (p.Glu223Ter) c.709G>T (p.Glu237Ter) c.420G>T c.673G>T (p.Glu225Ter) c.*3882G>T (n.*3882G>T) c.393G>T c.790G>T (p.Glu264Ter) c.412G>T (p.Glu138Ter) c.415G>T (p.Glu139Ter) c.5-27079G>T (n.5-27079G>T) c.-43-16509G>T (n.-43-16509G>T) c.-99+34241G>T (n.-99+34241G>T) n.4235G>T n.4276G>T | ClinVar dbSNP |