| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121168135C>A | CA383035468 | TBCEL-TECTA,TECTA | c.5668C>A (p.Arg1890Ser) c.5653C>A (p.Arg1885Ser) c.2960C>A n.1589C>A c.6610C>A (p.Arg2204Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121168135C>G | CA383035469 | TBCEL-TECTA,TECTA | c.5668C>G (p.Arg1890Gly) c.5653C>G (p.Arg1885Gly) c.2960C>G n.1589C>G c.6610C>G (p.Arg2204Gly) | dbSNP |
| 11 | g.121168135C>T | CA254071 | TBCEL-TECTA,TECTA | c.5668C>T (p.Arg1890Cys) c.5653C>T (p.Arg1885Cys) c.2960C>T n.1589C>T c.6610C>T (p.Arg2204Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.121168135C= | CA2004751539 | TBCEL-TECTA,TECTA | c.5668C= (p.Arg1890=) c.5653C= (p.Arg1885=) c.2960C= n.1589C= c.6610C= (p.Arg2204=) | dbSNP |