| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121168903C>T | CA6327846 | TBCEL-TECTA,TECTA | c.5977C>T (p.Arg1993Ter) c.5962C>T (p.Arg1988Ter) c.3269C>T n.2357C>T c.6919C>T (p.Arg2307Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121168903C= | CA2004752717 | TBCEL-TECTA,TECTA | c.5977C= (p.Arg1993=) c.5962C= (p.Arg1988=) c.3269C= n.2357C= c.6919C= (p.Arg2307=) | dbSNP |