| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.87417368T>A | CA10605868 | ABCB4 | c.2626A>T (p.Lys876Ter) c.2521A>T (p.Lys841Ter) c.2647A>T (p.Lys883Ter) c.1966A>T (p.Lys656Ter) n.2722A>T c.2896A>T (p.Lys966Ter) c.2791A>T (p.Lys931Ter) n.3397A>T | ClinVar dbSNP |
| 7 | g.87417368T= | CA1723579395 | ABCB4 | c.2626A= (p.Lys876=) c.2521A= (p.Lys841=) c.2647A= (p.Lys883=) c.1966A= (p.Lys656=) n.2722A= c.2896A= (p.Lys966=) c.2791A= (p.Lys931=) n.3397A= | dbSNP |