| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.133766289A>G | CA2625286 | TF | c.1342A>G (p.Ile448Val) c.12A>G c.1210A>G (p.Ile404Val) c.961A>G (p.Ile321Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133766289A>C | CA354608535 | TF | c.1342A>C (p.Ile448Leu) c.12A>C c.1210A>C (p.Ile404Leu) c.961A>C (p.Ile321Leu) | dbSNP |
| 3 | g.133766289A= | CA1403119316 | TF | c.1342A= (p.Ile448=) c.12A= c.1210A= (p.Ile404=) c.961A= (p.Ile321=) | dbSNP |