| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.19116759G>C | CA367015158 | TWIST1 | c.563C>G (p.Ser188Trp) c.360C>G c.166C>G n.914C>G n.878C>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116759G>A | CA340715 | TWIST1 | c.563C>T (p.Ser188Leu) c.360C>T c.166C>T n.914C>T n.878C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.19116759G= | CA1692250215 | TWIST1 | c.563C= (p.Ser188=) c.360C= c.166C= n.914C= n.878C= | dbSNP |