| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121187984C>G | CA16621630 | TBCEL-TECTA,TECTA | c.6152C>G (p.Ser2051Cys) c.6137C>G (p.Ser2046Cys) c.3444C>G n.2532C>G c.7094C>G (p.Ser2365Cys) | ClinVar dbSNP |
| 11 | g.121187984C>T | CA383009861 | TBCEL-TECTA,TECTA | c.6152C>T (p.Ser2051Phe) c.6137C>T (p.Ser2046Phe) c.3444C>T n.2532C>T c.7094C>T (p.Ser2365Phe) | dbSNP gnomAD v2 gnomAD v4 |