| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7561509C>T | CA9140693 | PNPLA6 | c.4045C>T (p.Arg1349Trp) c.3931C>T (p.Arg1311Trp) c.4075C>T (p.Arg1359Trp) c.3850C>T (p.Arg1284Trp) n.403C>T c.414C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7561509C>A | CA505405020 | PNPLA6 | c.4045C>A (p.Arg1349=) c.3931C>A (p.Arg1311=) c.4075C>A (p.Arg1359=) c.3850C>A (p.Arg1284=) n.403C>A c.414C>A | dbSNP gnomAD v2 gnomAD v4 |