| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.29666226G>C | CA3690483 | MOG | c.511G>C (p.Val171Leu) c.163G>C (p.Val55Leu) c.561G>C c.*368G>C (n.*368G>C) c.437-1417G>C (n.437-1417G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29666226G= | CA1618397683 | MOG | c.511G= (p.Val171=) c.163G= (p.Val55=) c.561G= c.*368G= (n.*368G=) c.437-1417G= (n.437-1417G=) | dbSNP |