| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.110618293A>G | CA440822227 | PITX2 | c.*55T>C (n.*55T>C) c.705T>C (p.Cys235=) n.773T>C n.777T>C c.786T>C (p.Cys262=) n.849T>C c.807T>C (p.Cys269=) n.738T>C c.648T>C (p.Cys216=) n.534T>C c.453T>C (p.Cys151=) | dbSNP |
| 4 | g.110618293A>T | CA16044252 | PITX2 | c.*55T>A (n.*55T>A) c.705T>A (p.Cys235Ter) n.773T>A n.777T>A c.786T>A (p.Cys262Ter) n.849T>A c.807T>A (p.Cys269Ter) n.738T>A c.648T>A (p.Cys216Ter) n.534T>A c.453T>A (p.Cys151Ter) | ClinVar dbSNP |
| 4 | g.110618293A= | CA1485137312 | PITX2 | c.*55T= (n.*55T=) c.705T= (p.Cys235=) n.773T= n.777T= c.786T= (p.Cys262=) n.849T= c.807T= (p.Cys269=) n.738T= c.648T= (p.Cys216=) n.534T= c.453T= (p.Cys151=) | dbSNP |