| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109576041T>C | CA130493 | MVK | c.-92+2168T>C (n.-92+2168T>C) c.122T>C (p.Leu41Pro) n.78+1141T>C c.64+1141T>C c.115T>C n.367T>C | ClinVar dbSNP |
| 12 | g.109576041T= | CA2062460995 | MVK | c.-92+2168T= (n.-92+2168T=) c.122T= (p.Leu41=) n.78+1141T= c.64+1141T= c.115T= n.367T= | dbSNP |