| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.43610596C>A | CA364261591 | GTPBP2,POLH,POLR1C | c.1117C>A (p.Gln373Lys) c.450-5214G>T (n.450-5214G>T) c.745C>A (p.Gln249Lys) c.931C>A (p.Gln311Lys) c.865C>A (p.Gln289Lys) c.661C>A (p.Gln221Lys) c.945+81325C>A (n.945+81325C>A) | dbSNP gnomAD v4 |
| 6 | g.43610596C>T | CA253644 | GTPBP2,POLH,POLR1C | c.1117C>T (p.Gln373Ter) c.450-5214G>A (n.450-5214G>A) c.745C>T (p.Gln249Ter) c.931C>T (p.Gln311Ter) c.865C>T (p.Gln289Ter) c.661C>T (p.Gln221Ter) c.945+81325C>T (n.945+81325C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |