Table 1 of Zou, Mol Vis 2021; 27:95-106.

Table 1. Single mutant alleles in the 25 RPGRIP1 mutation carriers.

Patient ID Phenotype Zygosity Exon cDNA variant Protein variant gnomAD(Allele frequency)
Known likely pathogenic variant candidates  
1332 LCA heterozygous exon14 c.2017C>T p.(Gln673Ter) 0
3443 LCA heterozygous exon16 c.2627A>G p.(Asp876Gly) 0
RKK_665 LCA heterozygous exon16 c.2627A>G p.(Asp876Gly) 0
Novel likely pathogenic variant candidates  
Missense variants  
SRF2147 LCA heterozygous exon5 c.775T>C p.(Cys259Arg) 0
3647 LCA heterozygous exon16 c.2434C>T p.(Arg812Trp) 2.41E-05
SRF_1990 RP heterozygous exon3 c.416C>T p.(Ala139Val) 4.82E-06
SRF_436 RP heterozygous exon3 c.473C>T p.(Pro158Leu) 4.98E-06
14,132,001 RP heterozygous exon8 c.1015A>G p.(Lys339Glu) 8.07E-06
SRF_1536 RP heterozygous exon14 c.1862T>C p.(Leu621Pro) 0
SRF_569 RP heterozygous exon14 c.2132A>G p.(His711Arg) 0
SRF_1447 RP heterozygous exon15 c.2291C>T p.(Ala764Val) 2.55E-05
NEI_8 RP heterozygous exon16 c.2480G>A p.(Arg827His) 6.06E-05
4270jyc RP heterozygous exon16 c.2600G>A p.(Arg867Gln) 7.49E-05
RKK_78 RP heterozygous exon16 c.2632G>A p.(Glu878Lys) 1.79E-05
SRF_841 RP heterozygous exon18 c.2965G>A p.(Gly989Arg) 2.81E-05
SRF_825 RP heterozygous exon20 c.3242A>G p.(Lys1081Arg) 0
Frameshift variants  
MEP_318 LCA heterozygous exon8 c.934dupC p.(Gln312ProfsTer9) 0
207_3 LCA heterozygous exon9 c.1107delA p.(Glu370AsnfsTer5) 0
SRF_168 LCA heterozygous exon14 c.1951delA p.(Thr651ProfsTer33) 0
MEP_305 LCA heterozygous exon24 c.3793_3794insGAAA p.(Val1265GlyfsTer19) 4.04E-06
WLJ_029 RP heterozygous exon5 c.673delC p.(His225ThrfsTer50) 1.20E-05
SRF_684 RP heterozygous exon10 c.1165dupA p.(Ser389LysfsTer2) 0
Splicing variants  
518 LCA heterozygous exon2 c.86–1G>A none 1.07E-05
1275 LCA heterozygous exon2 c.86–1G>A none 1.07E-05
FBP_207 RP heterozygous exon14 c.1763–2A>G none 1.07E-05