| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.43520119T>C | CA204040 | POLR1C | c.436T>C (p.Cys146Arg) c.*47T>C (n.*47T>C) c.271T>C (p.Cys91Arg) c.381-156T>C n.640T>C n.719T>C n.675T>C | ClinVar dbSNP |
| 6 | g.43520119T= | CA1624558796 | POLR1C | c.436T= (p.Cys146=) c.*47T= (n.*47T=) c.271T= (p.Cys91=) c.381-156T= n.640T= n.719T= n.675T= | dbSNP |