| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.43519782G>T | CA364282862 | POLR1C | c.326G>T (p.Arg109Leu) c.161G>T (p.Arg54Leu) c.324G>T n.303G>T n.382G>T n.338G>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.43519782G>A | CA204044 | POLR1C | c.326G>A (p.Arg109His) c.161G>A (p.Arg54His) c.324G>A n.303G>A n.382G>A n.338G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.43519782G= | CA1624558395 | POLR1C | c.326G= (p.Arg109=) c.161G= (p.Arg54=) c.324G= n.303G= n.382G= n.338G= | dbSNP |