Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7556507A>T | CA403133099 | PNPLA6 | c.3148A>T (p.Met1050Leu) c.319A>T (p.Met107Leu) c.3034A>T (p.Met1012Leu) c.3178A>T (p.Met1060Leu) c.2953A>T (p.Met985Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7556507A>G | CA118368 | PNPLA6 | c.3148A>G (p.Met1050Val) c.319A>G (p.Met107Val) c.3034A>G (p.Met1012Val) c.3178A>G (p.Met1060Val) c.2953A>G (p.Met985Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |