| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43093532G>C | CA10598014 | BRCA1 | n.2063C>G c.1999C>G (p.Gln667Glu) c.1873C>G (p.Gln625Glu) c.1996C>G (p.Gln666Glu) c.1921C>G (p.Gln641Glu) c.784+1212C>G (n.784+1212C>G) c.646+1212C>G (n.646+1212C>G) c.1111C>G (p.Gln371Glu) c.1876C>G (p.Gln626Glu) c.1858C>G (p.Gln620Glu) c.664+1212C>G (n.664+1212C>G) c.706+1212C>G (n.706+1212C>G) c.670+2314C>G (n.670+2314C>G) c.*1782C>G (n.*1782C>G) c.787+1212C>G (n.787+1212C>G) c.409+1212C>G (n.409+1212C>G) c.412+1212C>G (n.412+1212C>G) c.5-29581C>G (n.5-29581C>G) c.-43-19011C>G (n.-43-19011C>G) c.-99+31739C>G (n.-99+31739C>G) n.2135C>G n.2176C>G | dbSNP |
| 17 | g.43093532G>A | CA001326 | BRCA1 | n.2063C>T c.1999C>T (p.Gln667Ter) c.1873C>T (p.Gln625Ter) c.1996C>T (p.Gln666Ter) c.1921C>T (p.Gln641Ter) c.784+1212C>T (n.784+1212C>T) c.646+1212C>T (n.646+1212C>T) c.1111C>T (p.Gln371Ter) c.1876C>T (p.Gln626Ter) c.1858C>T (p.Gln620Ter) c.664+1212C>T (n.664+1212C>T) c.706+1212C>T (n.706+1212C>T) c.670+2314C>T (n.670+2314C>T) c.*1782C>T (n.*1782C>T) c.787+1212C>T (n.787+1212C>T) c.409+1212C>T (n.409+1212C>T) c.412+1212C>T (n.412+1212C>T) c.5-29581C>T (n.5-29581C>T) c.-43-19011C>T (n.-43-19011C>T) c.-99+31739C>T (n.-99+31739C>T) n.2135C>T n.2176C>T | ClinVar dbSNP |