| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43047662T>A | CA10590503 | BRCA1 | c.5445A>T (p.Thr1815=) c.5448A>T (p.Thr1816=) c.5322A>T (p.Thr1774=) c.5442A>T (p.Thr1814=) c.5370A>T (p.Thr1790=) c.2136A>T (p.Thr712=) c.1998A>T (p.Thr666=) c.4560A>T (p.Thr1520=) c.5325A>T (p.Thr1775=) c.5514A>T (p.Thr1838=) c.5307A>T (p.Thr1769=) c.2010A>T (p.Thr670=) n.1331A>T n.812A>T c.5511A>T (p.Thr1837=) c.1835A>T c.2022A>T (p.Thr674=) c.*5231A>T (n.*5231A>T) c.2062A>T (p.Arg688Ter) c.378A>T (p.Thr126=) c.921A>T (p.Thr307=) c.147A>T (p.Thr49=) n.5584A>T n.5625A>T | ClinVar dbSNP |
| 17 | g.43047662T>G | CA500143133 | BRCA1 | c.5445A>C (p.Thr1815=) c.5448A>C (p.Thr1816=) c.5322A>C (p.Thr1774=) c.5442A>C (p.Thr1814=) c.5370A>C (p.Thr1790=) c.2136A>C (p.Thr712=) c.1998A>C (p.Thr666=) c.4560A>C (p.Thr1520=) c.5325A>C (p.Thr1775=) c.5514A>C (p.Thr1838=) c.5307A>C (p.Thr1769=) c.2010A>C (p.Thr670=) n.1331A>C n.812A>C c.5511A>C (p.Thr1837=) c.1835A>C c.2022A>C (p.Thr674=) c.*5231A>C (n.*5231A>C) c.2062A>C (p.Arg688=) c.378A>C (p.Thr126=) c.921A>C (p.Thr307=) c.147A>C (p.Thr49=) n.5584A>C n.5625A>C | ClinVar dbSNP |
| 17 | g.43047662T>C | CA003601 | BRCA1 | c.5445A>G (p.Thr1815=) c.5448A>G (p.Thr1816=) c.5322A>G (p.Thr1774=) c.5442A>G (p.Thr1814=) c.5370A>G (p.Thr1790=) c.2136A>G (p.Thr712=) c.1998A>G (p.Thr666=) c.4560A>G (p.Thr1520=) c.5325A>G (p.Thr1775=) c.5514A>G (p.Thr1838=) c.5307A>G (p.Thr1769=) c.2010A>G (p.Thr670=) n.1331A>G n.812A>G c.5511A>G (p.Thr1837=) c.1835A>G c.2022A>G (p.Thr674=) c.*5231A>G (n.*5231A>G) c.2062A>G (p.Arg688Gly) c.378A>G (p.Thr126=) c.921A>G (p.Thr307=) c.147A>G (p.Thr49=) n.5584A>G n.5625A>G | ClinVar dbSNP |