| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121187849A>G | CA10581507 | TBCEL-TECTA,TECTA | c.6017A>G (p.Asp2006Gly) c.6002A>G (p.Asp2001Gly) c.3309A>G n.2397A>G c.6959A>G (p.Asp2320Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.121187849A= | CA2004763143 | TBCEL-TECTA,TECTA | c.6017A= (p.Asp2006=) c.6002A= (p.Asp2001=) c.3309A= n.2397A= c.6959A= (p.Asp2320=) | dbSNP |