| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.176621218G>T | CA118593 | SNCB | c.368C>A (p.Pro123His) n.965C>A c.326C>A (p.Pro109His) c.283-375C>A (n.283-375C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.176621218G= | CA1603223069 | SNCB | c.368C= (p.Pro123=) n.965C= c.326C= (p.Pro109=) c.283-375C= (n.283-375C=) | dbSNP |