| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.43567281C>T | CA3826629 | POLR1C,XPO5 | c.722G>A (p.Ser241Asn) n.933G>A c.945+38010C>T (n.945+38010C>T) n.896G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.43567281C= | CA1624598161 | POLR1C,XPO5 | c.722G= (p.Ser241=) n.933G= c.945+38010C= (n.945+38010C=) n.896G= | dbSNP |