1 | g.68444671dup | CA23575009 | RPE65 | c.361dup (p.Ser121PhefsTer10) c.85dup (p.Ser29PhefsTer10)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444671del | CA523301836 | RPE65 | c.361del (p.Ser121LeufsTer6) c.85del (p.Ser29LeufsTer6)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |