| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7558948G>T | CA403134813 | PNPLA6 | c.3496G>T (p.Gly1166Cys) c.667G>T (p.Gly223Cys) c.3382G>T (p.Gly1128Cys) c.3526G>T (p.Gly1176Cys) c.3301G>T (p.Gly1101Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7558948G>A | CA186150 | PNPLA6 | c.3496G>A (p.Gly1166Ser) c.667G>A (p.Gly223Ser) c.3382G>A (p.Gly1128Ser) c.3526G>A (p.Gly1176Ser) c.3301G>A (p.Gly1101Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |