| 10 | g.13125989C>T | CA254103 | OPTN | c.1192C>T (p.Gln398Ter)
c.1174C>T (p.Gln392Ter)
c.1021C>T (p.Gln341Ter)
| ClinVar dbSNP |
| 10 | g.13125989C>G | CA5410896 | OPTN | c.1192C>G (p.Gln398Glu)
c.1174C>G (p.Gln392Glu)
c.1021C>G (p.Gln341Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
