| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.110618542C>T | CA119287 | PITX2 | c.331G>A (p.Gly111Ser) c.456G>A (p.Trp152Ter) n.524G>A n.528G>A c.537G>A (p.Trp179Ter) n.600G>A c.558G>A (p.Trp186Ter) n.489G>A c.399G>A (p.Trp133Ter) n.864G>A n.285G>A c.204G>A (p.Trp68Ter) | ClinVar dbSNP |
| 4 | g.110618542C= | CA1485098075 | PITX2 | c.331G= (p.Gly111=) c.456G= (p.Trp152=) n.524G= n.528G= c.537G= (p.Trp179=) n.600G= c.558G= (p.Trp186=) n.489G= c.399G= (p.Trp133=) n.864G= n.285G= c.204G= (p.Trp68=) | dbSNP |