| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.43858890C>G | CA1624714015 | POLR1C | n.2589+16257C>G c.945+329619C>G (n.945+329619C>G) | dbSNP |
| 6 | g.43858890C>T | CA248434 | POLR1C | n.2589+16257C>T c.945+329619C>T (n.945+329619C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.43858890C>A | CA1624714014 | POLR1C | n.2589+16257C>A c.945+329619C>A (n.945+329619C>A) | dbSNP |