| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43057078G>A | CA003389 | BRCA1 | c.5248C>T (p.Arg1750Ter) c.5251C>T (p.Arg1751Ter) c.5125C>T (p.Arg1709Ter) c.5245C>T (p.Arg1749Ter) c.5173C>T (p.Arg1725Ter) c.1939C>T (p.Arg647Ter) c.1801C>T (p.Arg601Ter) c.4363C>T (p.Arg1455Ter) c.5128C>T (p.Arg1710Ter) c.5317C>T (p.Arg1773Ter) c.5110C>T (p.Arg1704Ter) c.1813C>T (p.Arg605Ter) c.5314C>T (p.Arg1772Ter) c.1638C>T c.1825C>T (p.Arg609Ter) c.*5034C>T (n.*5034C>T) c.181C>T (p.Arg61Ter) c.724C>T (p.Arg242Ter) c.-98-6888C>T (n.-98-6888C>T) n.5387C>T n.5428C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.43057078G>C | CA10591045 | BRCA1 | c.5248C>G (p.Arg1750Gly) c.5251C>G (p.Arg1751Gly) c.5125C>G (p.Arg1709Gly) c.5245C>G (p.Arg1749Gly) c.5173C>G (p.Arg1725Gly) c.1939C>G (p.Arg647Gly) c.1801C>G (p.Arg601Gly) c.4363C>G (p.Arg1455Gly) c.5128C>G (p.Arg1710Gly) c.5317C>G (p.Arg1773Gly) c.5110C>G (p.Arg1704Gly) c.1813C>G (p.Arg605Gly) c.5314C>G (p.Arg1772Gly) c.1638C>G c.1825C>G (p.Arg609Gly) c.*5034C>G (n.*5034C>G) c.181C>G (p.Arg61Gly) c.724C>G (p.Arg242Gly) c.-98-6888C>G (n.-98-6888C>G) n.5387C>G n.5428C>G | ClinVar dbSNP |
| 17 | g.43057078G>T | CA290823416 | BRCA1 | c.5248C>A (p.Arg1750=) c.5251C>A (p.Arg1751=) c.5125C>A (p.Arg1709=) c.5245C>A (p.Arg1749=) c.5173C>A (p.Arg1725=) c.1939C>A (p.Arg647=) c.1801C>A (p.Arg601=) c.4363C>A (p.Arg1455=) c.5128C>A (p.Arg1710=) c.5317C>A (p.Arg1773=) c.5110C>A (p.Arg1704=) c.1813C>A (p.Arg605=) c.5314C>A (p.Arg1772=) c.1638C>A c.1825C>A (p.Arg609=) c.*5034C>A (n.*5034C>A) c.181C>A (p.Arg61=) c.724C>A (p.Arg242=) c.-98-6888C>A (n.-98-6888C>A) n.5387C>A n.5428C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |