| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.23624082G>A | CA269569 | PALB2 | c.2767C>T (p.Gln923Ter) c.*242C>T (n.*242C>T) c.2761C>T (p.Gln921Ter) c.2605C>T (p.Gln869Ter) c.1876C>T (p.Gln626Ter) n.4108C>T c.1714C>T (p.Gln572Ter) n.3281C>T n.2053C>T n.1456C>T c.295C>T (p.Gln99Ter) c.333C>T n.3557C>T | ClinVar dbSNP |
| 16 | g.23624082G>T | CA395145217 | PALB2 | c.2767C>A (p.Gln923Lys) c.*242C>A (n.*242C>A) c.2761C>A (p.Gln921Lys) c.2605C>A (p.Gln869Lys) c.1876C>A (p.Gln626Lys) n.4108C>A c.1714C>A (p.Gln572Lys) n.3281C>A n.2053C>A n.1456C>A c.295C>A (p.Gln99Lys) c.333C>A n.3557C>A | ClinVar dbSNP |
| 16 | g.23624082G>C | CA395145221 | PALB2 | c.2767C>G (p.Gln923Glu) c.*242C>G (n.*242C>G) c.2761C>G (p.Gln921Glu) c.2605C>G (p.Gln869Glu) c.1876C>G (p.Gln626Glu) n.4108C>G c.1714C>G (p.Gln572Glu) n.3281C>G n.2053C>G n.1456C>G c.295C>G (p.Gln99Glu) c.333C>G n.3557C>G | dbSNP |