| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.57674849G>A | CA254138 | ATP8B1 | c.1804C>T (p.Arg602Ter) c.1669C>T c.1690C>T (p.Arg564Ter) c.1084C>T (p.Arg362Ter) c.1654C>T (p.Arg552Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.57674849G= | CA2306103148 | ATP8B1 | c.1804C= (p.Arg602=) c.1669C= c.1690C= (p.Arg564=) c.1084C= (p.Arg362=) c.1654C= (p.Arg552=) | dbSNP |