| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.43245739C>T | CA12235014 | TTBK1 | c.-54-868C>T (n.-54-868C>T) c.39+547C>T (n.39+547C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.43245739C>A | CA1624430396 | TTBK1 | c.-54-868C>A (n.-54-868C>A) c.39+547C>A (n.39+547C>A) | dbSNP |