| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.11448205G>T | CA217986776 | GALNT18 | c.428+539C>A (n.428+539C>A) c.-104+539C>A (n.-104+539C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.11448205G>C | CA1952367600 | GALNT18 | c.428+539C>G (n.428+539C>G) c.-104+539C>G (n.-104+539C>G) | dbSNP |