| 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 |
| 12 | g.109574881A= | CA2062460198 | MVK | c.-92+1008A= (n.-92+1008A=) c.59A= (p.His20=) n.59A= c.45A= c.52A= n.304A= | dbSNP |
| 12 | g.109574881A>T | CA386642903 | MVK | c.-92+1008A>T (n.-92+1008A>T) c.59A>T (p.His20Leu) n.59A>T c.45A>T c.52A>T n.304A>T | dbSNP gnomAD v4 |