| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.177438806G>A | CA358783313 | AGA | c.446C>T (p.Thr149Ile) c.101C>T (p.Thr34Ile) n.480C>T c.142C>T n.367C>T n.574C>T n.540C>T n.508C>T | dbSNP |
| 4 | g.177438806G>C | CA145609 | AGA | c.446C>G (p.Thr149Ser) c.101C>G (p.Thr34Ser) n.480C>G c.142C>G n.367C>G n.574C>G n.540C>G n.508C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |