| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121168064C>T | CA6327783 | TBCEL-TECTA,TECTA | c.5597C>T (p.Thr1866Met) c.5582C>T (p.Thr1861Met) c.2889C>T n.1518C>T c.6539C>T (p.Thr2180Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121168064C>G | CA6327784 | TBCEL-TECTA,TECTA | c.5597C>G (p.Thr1866Arg) c.5582C>G (p.Thr1861Arg) c.2889C>G n.1518C>G c.6539C>G (p.Thr2180Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |