| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.57695188C>A | CA340664 | ATP8B1 | c.923G>T (p.Gly308Val) c.756G>T c.809G>T (p.Gly270Val) c.203G>T (p.Gly68Val) n.32-757C>A c.773G>T (p.Gly258Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57695188C>T | CA402541860 | ATP8B1 | c.923G>A (p.Gly308Asp) c.756G>A c.809G>A (p.Gly270Asp) c.203G>A (p.Gly68Asp) n.32-757C>T c.773G>A (p.Gly258Asp) | dbSNP gnomAD v2 gnomAD v4 |