| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.43928847C>A | CA514856644 | PNPLA3 | c.444C>A (p.Ile148=) c.*76C>A (n.*76C>A) c.432C>A (p.Ile144=) n.478C>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.43928847C>G | CA10277926 | PNPLA3 | c.444C>G (p.Ile148Met) c.*76C>G (n.*76C>G) c.432C>G (p.Ile144Met) n.478C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.43928847C>T | CA514856645 | PNPLA3 | c.444C>T (p.Ile148=) c.*76C>T (n.*76C>T) c.432C>T (p.Ile144=) n.478C>T | dbSNP gnomAD v4 |