Table 1 of Shen, Mol Vis 2022; 28:96-113.
Family No. | Inheritance Model | Gene | NM No. | Mutation No. | Nucleotide change | Amino acid change | State | Frequencies | Software predictions | Reference | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1000G | ExAC | SIFT | PolyPhen | PROVEAN | |||||||||
RP008 | AR | USH2A | NM_206933 | M1 | c.99_100insT | p.R34Sfs*41 | comhet | None | None | NA | NA | NA | [16] |
NM_206933 | M2 | c.8559–2A>G | mis-splicing | comhet | 0.000199681 | 0.00002473 | NA | NA | NA | [16] | |||
RP015 | AR | USH2A | NM_206933 | M1 | c.8559–2A>G | mis-splicing | comhet | 0.000199681 | <0.000001 | NA | NA | NA | [16] |
NM_206933 | M2 | c.9337dupA | p.I3113Nfs*17 | comhet | None | None | NA | NA | NA | Not reported | |||
RP028 | AR | USH2A | NM_206933 | M1 | c.8559–2A>G | mis-splicing | comhet | 0.000199681 | 0.00002473 | NA | NA | NA | [16] |
NM_206933 | M2 | c.G14287C | p.G4763R | comhet | None | None | D | D | D | [17] | |||
RP033 | AR | USH2A | NM_206933 | M1 | c.C10498T | p.Q3500* | comhet | None | None | NA | NA | NA | Not reported |
NM_007123 | M2 | c.T2802G | p.C934W | comhet | 0.000798722 | 0.0002 | D | D | D | [18] | |||
RP026 | AR | CYP4V2 | NM_207352 | M1 | c.T219A | p.F73L | comhet | None | 0.000008258 | T | B | D | [19] |
NM_207352 | M2 | c.G1169A | p.R390H | comhet | None | None | D | D | D | [20] | |||
RP034 | AR | CYP4V2 | NM_207352 | M1 | c.1091–2A>G | mis-splicing | comhet | None | 0.00003295 | NA | NA | NA | [21] |
NM_207352 | M2 | c.G1199A | p.R400H | comhet | 0.000199681 | 0.00004118 | D | D | D | [22] | |||
RP037 | AR | CYP4V2 | NM_207352 | M1 | c.802–8_10del17bpinsGC | frameshift | comhet | None | None | NA | NA | NA | [21] |
NM_207352 | M2 | c.G1199A | p.R400H | comhet | 0.000199681 | 0.00004118 | D | D | D | [22] | |||
RP011 | AR | RP1 | NM_006269 | M1 | c.6179delA | p.E2060fs*12 | hom | None | <0.000001 | NA | NA | NA | [23] |
RP023 | AD | RP1 | NM_006269 | M1 | c.C2029T | p.R677* | het | None | None | NA | NA | NA | [24] |
RP025 | AD | RHO | NM_000539 | M1 | c.C403T | p.R135W | het | None | None | D | D | D | [25] |
RP038 | AD | RHO | NM_000539 | M1 | c.C1040T | p.P347L | het | None | 0.000008263 | D | D | D | [26] |
RP014 | AD | PRPF31 | NM_015629 | M1 | c.967_968delGA | E323Dfs*151 | het | None | None | NA | NA | NA | Not reported |
RP019 | AD | PRPF31 | NM_015629 | M1 | c.327_330delCATC | p.H111Sfs*86 | het | None | None | NA | NA | NA | Not reported |
RP005 | AD | PRPF3 | NM_004698 | M1 | c.C1481T | p.T494M | het | None | None | D | D | D | [27] |
RP010 | XLR | RP2 | NM_006915 | M1 | c.758_761delTAAT | p.L253fs*10 | hemi | None | None | NA | NA | NA | Not reported |
RP012 | AD | TOPORS | NM_001195622 | M1 | c.2323_2324delAG | p.S775* | het | None | None | NA | NA | NA | Not reported |
RP018 | AR | EYS | NM_001142800 | M1 | c.7228+1G>A | mis-splicing | comhet | None | None | NA | NA | NA | [28] |
NM_001142800 | M2 | c.4957dupA | p.S1653Kfs*2 | comhet | None | None | NA | NA | NA | [29] | |||
RP027 | AR | CNGA1 | NM_001142564 | M1 | c.472delC | p.L89Ffs*4 | hom | None | 0.00009129 | NA | NA | NA | [30] |
RP035 | AR | CNGB1 | NM_001297 | M1 | c.G2006A | p.W669* | hom | None | None | NA | NA | NA | Not reported |
RP036 | XLR | RPGR | NM_000328 | M1 | c.T773C | p.L258P | hemi | None | None | D | D | D | Not reported |