| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43093393G>C | CA001436 | BRCA1 | n.2202C>G c.2138C>G (p.Ser713Ter) c.2012C>G (p.Ser671Ter) c.2135C>G (p.Ser712Ter) c.2060C>G (p.Ser687Ter) c.784+1351C>G (n.784+1351C>G) c.646+1351C>G (n.646+1351C>G) c.1250C>G (p.Ser417Ter) c.2015C>G (p.Ser672Ter) c.1997C>G (p.Ser666Ter) c.664+1351C>G (n.664+1351C>G) c.706+1351C>G (n.706+1351C>G) c.671-2361C>G (n.671-2361C>G) c.*1921C>G (n.*1921C>G) c.787+1351C>G (n.787+1351C>G) c.409+1351C>G (n.409+1351C>G) c.412+1351C>G (n.412+1351C>G) c.5-29442C>G (n.5-29442C>G) c.-43-18872C>G (n.-43-18872C>G) c.-99+31878C>G (n.-99+31878C>G) n.2274C>G n.2315C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43093393G>T | CA10586649 | BRCA1 | n.2202C>A c.2138C>A (p.Ser713Ter) c.2012C>A (p.Ser671Ter) c.2135C>A (p.Ser712Ter) c.2060C>A (p.Ser687Ter) c.784+1351C>A (n.784+1351C>A) c.646+1351C>A (n.646+1351C>A) c.1250C>A (p.Ser417Ter) c.2015C>A (p.Ser672Ter) c.1997C>A (p.Ser666Ter) c.664+1351C>A (n.664+1351C>A) c.706+1351C>A (n.706+1351C>A) c.671-2361C>A (n.671-2361C>A) c.*1921C>A (n.*1921C>A) c.787+1351C>A (n.787+1351C>A) c.409+1351C>A (n.409+1351C>A) c.412+1351C>A (n.412+1351C>A) c.5-29442C>A (n.5-29442C>A) c.-43-18872C>A (n.-43-18872C>A) c.-99+31878C>A (n.-99+31878C>A) n.2274C>A n.2315C>A | ClinVar dbSNP gnomAD v4 |