| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.168932442G>A | CA1951095 | ABCB11 | c.1465C>T (p.Arg489Cys) c.3148C>T (p.Arg1050Cys) c.1837C>T (n.1837C>T) c.3190C>T (p.Arg1064Cys) c.3250C>T (p.Arg1084Cys) c.1474C>T (p.Arg492Cys) c.2479C>T (p.Arg827Cys) c.1933C>T (p.Arg645Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.168932442G= | CA1306208147 | ABCB11 | c.1465C= (p.Arg489=) c.3148C= (p.Arg1050=) c.1837C= (n.1837C=) c.3190C= (p.Arg1064=) c.3250C= (p.Arg1084=) c.1474C= (p.Arg492=) c.2479C= (p.Arg827=) c.1933C= (p.Arg645=) | dbSNP |