| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.176626472C>G | CA131869045 | SNCB | c.208G>C (p.Val70Leu) n.805G>C c.166G>C (p.Val56Leu) | dbSNP |
| 5 | g.176626472C>T | CA118591 | SNCB | c.208G>A (p.Val70Met) n.805G>A c.166G>A (p.Val56Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.176626472C= | CA1603204475 | SNCB | c.208G= (p.Val70=) n.805G= c.166G= (p.Val56=) | dbSNP |