| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7541025C>A | CA403106855 | PNPLA6 | c.898C>A (p.Pro300Thr) c.781C>A (p.Pro261Thr) c.925C>A (p.Pro309Thr) c.356C>A c.420C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.7541025C>G | CA16043563 | PNPLA6 | c.898C>G (p.Pro300Ala) c.781C>G (p.Pro261Ala) c.925C>G (p.Pro309Ala) c.356C>G c.420C>G | ClinVar dbSNP |