| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109574881A>G | CA386642901 | MVK | c.-92+1008A>G (n.-92+1008A>G) c.59A>G (p.His20Arg) n.59A>G c.45A>G c.52A>G n.304A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109574881A>C | CA121780 | MVK | c.-92+1008A>C (n.-92+1008A>C) c.59A>C (p.His20Pro) n.59A>C c.45A>C c.52A>C n.304A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |