Table 2 of
Asghar, Mol Vis 2025; 31:69-83. Table 2 of
Asghar, Mol Vis 2025; 31:69-83.
Table 2. List of identified variants in syndromic RP genes in a Pakistani cohort of 10 families.
| Sr. No. | Family ID | Accession Number | Gene | Zygosity | Variant | Nucleotide change | Coding impact | db SNP ID | ClinVar ID/classification |
|---|---|---|---|---|---|---|---|---|---|
| 1 | RP057 | NM_001384140.1 | PCDH 15 | Homo | CHR10:55996693T>C | c.877–2A>G | Splice site | NA | NA |
| 2 | RP094 | NM_000260.4 | MYO7A | Homo | CHR11:76900393G>A | c.3508G>A | p.(Glu1170Lys) | rs111033214 | 43,208/P |
| 3 | RP182 | NM_000260.4 | MYO7A | Homo | CHR11:76867137G>A | c.470G>A | p.(Ser157Asn) | NA | NA |
| 4 | RP 220 | NM_206933.4 | USH2A | Homo | CHR1:216498647C>G | c.1143G>C | p.(Gln381His) | NA | NA |
| 5 | RP243 | NM_000539.3 | RHO | Homo | CHR3:129249805G>A | c.448G>A | p(Glu150Lys) | rs104893791 | 13,046/P |
| NM_206933.4 | USH2A | Hetero | CHR1:215853692G>T | c.12093C>A | p.(Tyr4031Ter) | rs55921307 | 5,446,112/P | ||
| NM_206933.4 | USH2A | Hetero | CHR1:215972392G>A | c.9815C>T | p.(Pro3272Leu) | rs764182950 | 553,424/P | ||
| 6 | RP043 | NM_001278293.3 | ARL6 | Homo | CHR3:97503825T>C | c.281C>T | p.(Ile94Thr) | rs771054395 | 438,186/P |
| 7 | RP157 | NM_152618.3 | BBS12 | Homo | CHR4:123664102A>C | c.1055A>C | p.(Gln352Pro) | rs767068756 | 560,429/LP |
| 8 | RP164 | NM_001278293.3 | ARL6 | Homo | CHR3:97503891C>T | c.347C>T | p.(Pro116Leu) | NA | NA |
| 9 | RP173 | NM_001278293.3 | ARL6 | Homo | CHR3:97510669A>G | c.534A>G | p.(Gln178=) | rs756341249 | 1,805,423/P |
| 10 | RD002 | NM_006493.2 | CLN5 | Homo | chr13:77570131 C>T | c.581C>T | p.(Thr194Ile) | rs113944597 | NA |
| 11 | RP155 | NM_001371596.2 | MFSD8/CLN7 | Homo | chr4:128854177 A>C | c.826T>G | p.(Phe276Val) | rs756815122 | 3,294,568/VUS |
| 12 | RP067 | NM_012106.4 | ARL2BP | Homo | chr16:57280054 G>T | c.100+1G>T | Splice site | NA | NA |
| 13 | RP151 | NM_001844 | COL2A1 | Homo | CHR12.48393747C>T | c.247G>A | p.(Gly83Arg) | rs762911032 | 964,324/LB |