| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109579921T>C | CA149812 | MVK | c.-92+6048T>C (n.-92+6048T>C) c.346T>C (p.Tyr116His) n.78+5021T>C c.*110T>C (n.*110T>C) c.64+5021T>C c.220-1474T>C c.226+3776T>C (n.226+3776T>C) n.471+3776T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109579921T= | CA2062463927 | MVK | c.-92+6048T= (n.-92+6048T=) c.346T= (p.Tyr116=) n.78+5021T= c.*110T= (n.*110T=) c.64+5021T= c.220-1474T= c.226+3776T= (n.226+3776T=) n.471+3776T= | dbSNP |