| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121187894G>A | CA254070 | TBCEL-TECTA,TECTA | c.6062G>A (p.Arg2021His) c.6047G>A (p.Arg2016His) c.3354G>A n.2442G>A c.7004G>A (p.Arg2335His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.121187894G= | CA2004763161 | TBCEL-TECTA,TECTA | c.6062G= (p.Arg2021=) c.6047G= (p.Arg2016=) c.3354G= n.2442G= c.7004G= (p.Arg2335=) | dbSNP |