| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.43770057A>T | CA824953593 | POLR1C | c.945+240786A>T (n.945+240786A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.43770057A>G | CA12192505 | POLR1C | c.945+240786A>G (n.945+240786A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.43770057A= | CA1624677113 | POLR1C | c.945+240786A= (n.945+240786A=) | dbSNP |