Table 2.
Minor allele frequencies and pathogenicity scores of the identified variants.
| ID | Gene | Nucleotide Change | Protein Change | MAF (GnomADEx.) | DANN | FATHMM | FATHMM-MKL | LRT | Mutation Assessor | Mutation Taster | PROVEAN | SIFT | HSF, SSPNN, varSEAK Online | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IV.3 | RHO | c.644C>T | p.Pro215Leu | absent | 0.9989 | Tolerated | Damaging | Deleterious | High | Disease causing | Damaging | Damaging | [18] | |
| IV.4 | ABCA4 | c.740A>T | p.(Asn247Ile) | absent | 0.9905 | Damaging | Damaging | Neutral | Medium | Disease causing | Damaging | Damaging | - | [19] |
| c.4594G>A | p.(Asp1532Asn) | 0.000107 | 0.9993 | Damaging | Damaging | Deleterious | Medium | Disease causing | Damaging | Damaging | - | [20,21] | ||
| IV.4, V.1 | CACNA1F | c.1079C>T | p.(Ser360Phe) | absent | 0.9953 | Damaging | Damaging | Deleterious | Medium | Disease causing | Damaging | Damaging | - | novel |
| V.2 | MITF | c.710+1G>A | p.? | absent | 0.9956 | - | Damaging | - | - | Disease causing | - | - | LOF of donor splice site | [22] |
MAF = minor allele frequency; LOF = loss of function.