Table 3.
Ten Previously Reported Mutations and 12 Potential Novel Pathogenic Variations
| Patient ID | Sex | Diagnosis | Gene | Nucleotide Change | Amino Acid Change | HGMD No. | PolyPhen-2 | SIFT | SNP ID |
|---|---|---|---|---|---|---|---|---|---|
| 1 | Male | RP | TLR4 | c.842G>A | p.Cys281Tyr | CM035921 | Poss/0.900 | Tolerated/0.25 | |
| 2 | Female | RP | USH2A | c.14792–2A>G | Novel | ||||
| 3 | Female | RP | CNGB1 | c.2747G>A | p.Arg916His | Novel | Prob/0.994 | Damaging/0.00 | |
| RPGR | c.223A>G | p.Ile75Val | CM011007 | Benign/0.015 | Tolerated/1.00 | ||||
| 19 | Male | RP | BEST1 | c.727G>A | p.Ala243Thr | CM004434 | Prob/0.946 | Damaging/0.01 | |
| 5 | Female | Usher syndrome | GUCY2D | c.1720C>T | p.Arg574Cys | Novel | Prob/0.933 | Damaging/0.02 | |
| LRAT | c.74T>A | p.Phe25Tyr | Novel | Prob/0.98 | Tolerated/0.11 | rs75368761 | |||
| GUCA1B | c.253G>A | p.Val85Met | CM045052 | Benign/0.023 | Damaging/0.02 | ||||
| ABCA4 | c.6320G>A | p.Arg2107His | CM990074 | Prob/0.996 | Damaging/0.00 | rs62642564 | |||
| 6 | Male | Usher syndrome | CACNA1F | c.4161G>T | p.Glu1387Asp | Novel | Benign/0.266 | Damaging/0.00 | |
| TRIM32 | c.1222C>T | p.Arg408Cys | Novel | Poss/0.795 | Damaging/0.04 | rs3747835 | |||
| 7 | Female | Usher syndrome | USH2A | c.4714C>T | p.Leu1572Phe | Novel | Poss/0.673 | Damaging/0.01 | |
| 8 | Male | Usher syndrome | RPGRIP1 | c.3358A>G | p.Ile1120Val | CM076486 | Poss/0.833 | Tolerated/0.09 | |
| 9 | Female | CRD | KCNV2 | c.−2C>T | Novel | rs75316505 | |||
| BBS12 | c.1381A>C | p.Asn461His | Novel | Poss/0.706 | Damaging/0.01 | rs10027479 | |||
| 10 | Male | CRD | PROM1 | c.1557C>A | p.Tyr519Ter | Novel | |||
| ABCA4 | c.4297G>A | p.Val1433Ile | CM990050 | Benign/0.112 | Tolerated/0.09 | rs56357060 | |||
| 18 | Male | CRD | ABCA4 | c.4793C>A | p.Ala1598Asp | CM003386 | Poss/0.638 | Damaging/0.01 | rs61750155 |
| 13 | Male | STGD | ABCA4 | c.3595C>T | p.Gln1199Ter | Novel | |||
| 16 | Female | STGD | ABCA4 | c.5882G>A | p.Gly1961Glu | CM970016 | Prob/1.000 | Damaging/0.00 | rs1800553 |
| HMCN1 | c.5482A>G | p.Ile1828Val | Novel | Prob/0.896 | Tolerated/0.4 | ||||
| 14 | Male | CHM | BBS5 | c.551A>G | p.Asn184Ser | CM044580 | Prob/0.986 | Damaging/0.00 |
All mutations/variations were identified in their respective genes in the heterozygous state except one variation on CACNA1F in the hemizygous state. Genes in bold represent the known genes involved in their respective diseases. Patients 4, 11, 12, 15, and 17 were not included because no variations were listed in the table.