| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.57669433A>G | CA254134 | ATP8B1 | c.1982T>C (p.Ile661Thr) c.1847T>C c.1868T>C (p.Ile623Thr) c.1262T>C (p.Ile421Thr) c.1832T>C (p.Ile611Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57669433A= | CA2306100549 | ATP8B1 | c.1982T= (p.Ile661=) c.1847T= c.1868T= (p.Ile623=) c.1262T= (p.Ile421=) c.1832T= (p.Ile611=) | dbSNP |