| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43045749T>C | CA10590277 | BRCA1 | c.5518A>G (p.Ser1840Gly) c.5521A>G (p.Ser1841Gly) c.5395A>G (p.Ser1799Gly) c.5515A>G (p.Ser1839Gly) c.5443A>G (p.Ser1815Gly) c.2209A>G (p.Ser737Gly) c.2071A>G (p.Ser691Gly) c.4633A>G (p.Ser1545Gly) c.5398A>G (p.Ser1800Gly) c.5587A>G (p.Ser1863Gly) c.5380A>G (p.Ser1794Gly) c.2083A>G (p.Ser695Gly) n.1404A>G n.885A>G c.5584A>G (p.Ser1862Gly) c.1908A>G c.2095A>G (p.Ser699Gly) c.*5304A>G (n.*5304A>G) c.*35A>G (n.*35A>G) c.451A>G (p.Ser151Gly) c.994A>G (p.Ser332Gly) c.220A>G (p.Ser74Gly) n.5657A>G n.5698A>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43045749T>G | CA003694 | BRCA1 | c.5518A>C (p.Ser1840Arg) c.5521A>C (p.Ser1841Arg) c.5395A>C (p.Ser1799Arg) c.5515A>C (p.Ser1839Arg) c.5443A>C (p.Ser1815Arg) c.2209A>C (p.Ser737Arg) c.2071A>C (p.Ser691Arg) c.4633A>C (p.Ser1545Arg) c.5398A>C (p.Ser1800Arg) c.5587A>C (p.Ser1863Arg) c.5380A>C (p.Ser1794Arg) c.2083A>C (p.Ser695Arg) n.1404A>C n.885A>C c.5584A>C (p.Ser1862Arg) c.1908A>C c.2095A>C (p.Ser699Arg) c.*5304A>C (n.*5304A>C) c.*35A>C (n.*35A>C) c.451A>C (p.Ser151Arg) c.994A>C (p.Ser332Arg) c.220A>C (p.Ser74Arg) n.5657A>C n.5698A>C | ClinVar dbSNP |
| 17 | g.43045749T>A | CA10590276 | BRCA1 | c.5518A>T (p.Ser1840Cys) c.5521A>T (p.Ser1841Cys) c.5395A>T (p.Ser1799Cys) c.5515A>T (p.Ser1839Cys) c.5443A>T (p.Ser1815Cys) c.2209A>T (p.Ser737Cys) c.2071A>T (p.Ser691Cys) c.4633A>T (p.Ser1545Cys) c.5398A>T (p.Ser1800Cys) c.5587A>T (p.Ser1863Cys) c.5380A>T (p.Ser1794Cys) c.2083A>T (p.Ser695Cys) n.1404A>T n.885A>T c.5584A>T (p.Ser1862Cys) c.1908A>T c.2095A>T (p.Ser699Cys) c.*5304A>T (n.*5304A>T) c.*35A>T (n.*35A>T) c.451A>T (p.Ser151Cys) c.994A>T (p.Ser332Cys) c.220A>T (p.Ser74Cys) n.5657A>T n.5698A>T | ClinVar dbSNP |