Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.43946294G>T | CA10278264 | PNPLA3 | c.1358G>T (p.Ser453Ile) c.*849+1499G>T (n.*849+1499G>T) c.1346G>T (p.Ser449Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946294G= | CA2407489698 | PNPLA3 | c.1358G= (p.Ser453=) c.*849+1499G= (n.*849+1499G=) c.1346G= (p.Ser449=) | dbSNP |