| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121160301G>C | CA254068 | TBCEL-TECTA,TECTA | c.4856G>C (p.Cys1619Ser) c.2163G>C n.792G>C c.5813G>C (p.Cys1938Ser) | ClinVar dbSNP |
| 11 | g.121160301G>A | CA383029233 | TBCEL-TECTA,TECTA | c.4856G>A (p.Cys1619Tyr) c.2163G>A n.792G>A c.5813G>A (p.Cys1938Tyr) | ClinVar dbSNP |
| 11 | g.121160301G= | CA2004739343 | TBCEL-TECTA,TECTA | c.4856G= (p.Cys1619=) c.2163G= n.792G= c.5813G= (p.Cys1938=) | dbSNP |