| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.168932506T>C | CA1951104 | ABCB11 | c.411A>G c.1401A>G (p.Ala467=) c.3084A>G (p.Ala1028=) c.1773A>G (n.1773A>G) c.3126A>G (p.Ala1042=) c.3186A>G (p.Ala1062=) c.1410A>G (p.Ala470=) c.2415A>G (p.Ala805=) c.1869A>G (p.Ala623=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.168932506T>A | CA429913166 | ABCB11 | c.411A>T c.1401A>T (p.Ala467=) c.3084A>T (p.Ala1028=) c.1773A>T (n.1773A>T) c.3126A>T (p.Ala1042=) c.3186A>T (p.Ala1062=) c.1410A>T (p.Ala470=) c.2415A>T (p.Ala805=) c.1869A>T (p.Ala623=) | ClinVar dbSNP |