| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7527862A>G | CA16041988 | MCOLN1 | c.681-2A>G (n.681-2A>G) n.994A>G c.572-2A>G (n.572-2A>G) | ClinVar dbSNP gnomAD v4 |
| 19 | g.7527862A>C | CA403083600 | MCOLN1 | c.681-2A>C (n.681-2A>C) n.994A>C c.572-2A>C (n.572-2A>C) | dbSNP gnomAD v4 |