| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121187987G>A | CA273240 | TBCEL-TECTA,TECTA | c.6155G>A (p.Cys2052Tyr) c.6140G>A (p.Cys2047Tyr) c.3447G>A n.2535G>A c.7097G>A (p.Cys2366Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121187987G= | CA2004763189 | TBCEL-TECTA,TECTA | c.6155G= (p.Cys2052=) c.6140G= (p.Cys2047=) c.3447G= n.2535G= c.7097G= (p.Cys2366=) | dbSNP |