| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.24259099C>G | CA256464 | TGM1 | c.1135G>C (p.Val379Leu) c.-28-711G>C (n.-28-711G>C) c.208G>C (p.Val70Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24259099C>T | CA257898498 | TGM1 | c.1135G>A (p.Val379Ile) c.-28-711G>A (n.-28-711G>A) c.208G>A (p.Val70Ile) | dbSNP |