| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219216084A>G | CA144711 | ABCB6,ATG9A | c.1067T>C (p.Leu356Pro) c.929T>C (p.Leu310Pro) c.610T>C c.542+280T>C c.3792T>C c.353-1586T>C c.403T>C (n.403T>C) n.205T>C | ClinVar dbSNP |
| 2 | g.219216084A= | CA1329114467 | ABCB6,ATG9A | c.1067T= (p.Leu356=) c.929T= (p.Leu310=) c.610T= c.542+280T= c.3792T= c.353-1586T= c.403T= (n.403T=) n.205T= | dbSNP |