| 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 |
| 2 | g.168932506T= | CA1306208169 | ABCB11 | c.411A= c.1401A= (p.Ala467=) c.3084A= (p.Ala1028=) c.1773A= (n.1773A=) c.3126A= (p.Ala1042=) c.3186A= (p.Ala1062=) c.1410A= (p.Ala470=) c.2415A= (p.Ala805=) c.1869A= (p.Ala623=) | dbSNP |
| 2 | g.168932506T>G | CA429913165 | ABCB11 | c.411A>C c.1401A>C (p.Ala467=) c.3084A>C (p.Ala1028=) c.1773A>C (n.1773A>C) c.3126A>C (p.Ala1042=) c.3186A>C (p.Ala1062=) c.1410A>C (p.Ala470=) c.2415A>C (p.Ala805=) c.1869A>C (p.Ala623=) | dbSNP |