| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121166665G>A | CA353707 | TBCEL-TECTA,TECTA | c.5471G>A (p.Gly1824Asp) c.5456G>A (p.Gly1819Asp) c.2763G>A n.1392G>A c.6413G>A (p.Gly2138Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121166665G>C | CA383034488 | TBCEL-TECTA,TECTA | c.5471G>C (p.Gly1824Ala) c.5456G>C (p.Gly1819Ala) c.2763G>C n.1392G>C c.6413G>C (p.Gly2138Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121166665G= | CA2004749365 | TBCEL-TECTA,TECTA | c.5471G= (p.Gly1824=) c.5456G= (p.Gly1819=) c.2763G= n.1392G= c.6413G= (p.Gly2138=) | dbSNP |