| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.43762018G>T | CA12387319 | POLR1C | c.945+232747G>T (n.945+232747G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.43762018G>A | CA1088447065 | POLR1C | c.945+232747G>A (n.945+232747G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.43762018G= | CA1624673505 | POLR1C | c.945+232747G= (n.945+232747G=) | dbSNP |