| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2166995T>G | CA278132 | TH | c.733A>C (p.Thr245Pro) c.*422A>C (n.*422A>C) c.695+440A>C (n.695+440A>C) c.*453A>C (n.*453A>C) c.814A>C (p.Thr272Pro) c.826A>C (p.Thr276Pro) c.135+440A>C c.136-227A>C n.862A>C n.282A>C c.745A>C (p.Thr249Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2166995T= | CA1948006004 | TH | c.733A= (p.Thr245=) c.*422A= (n.*422A=) c.695+440A= (n.695+440A=) c.*453A= (n.*453A=) c.814A= (p.Thr272=) c.826A= (p.Thr276=) c.135+440A= c.136-227A= n.862A= n.282A= c.745A= (p.Thr249=) | dbSNP |