| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.43622692G>A | CA138311221 | GTPBP2,POLR1C | c.1408C>T (p.Arg470Ter) c.1144C>T (p.Arg382Ter) c.113C>T n.1291C>T c.1264C>T (p.Arg422Ter) c.945+93421G>A (n.945+93421G>A) | ClinVar dbSNP |
| 6 | g.43622692G= | CA1624588717 | GTPBP2,POLR1C | c.1408C= (p.Arg470=) c.1144C= (p.Arg382=) c.113C= n.1291C= c.1264C= (p.Arg422=) c.945+93421G= (n.945+93421G=) | dbSNP |