Molecular Vision: Khateb, Mol Vis 2022; 28:21-28. Table 1

Table 1. Information regarding the participating families and their genetic results.

OPN1LW/OPN1MW mutation/ exon 3 haplotype*	Gene	Genetic method	Family No.
Blue cone monochromacy (BCM)
chrX:g.153409766_153455982del	Cone opsin cluster	Sanger Sequencing	MOL0110
p.C203R	OPN1LW/OPN1MW single hybrid gene	Sanger sequencing	MOL0432
chrX:g.153409766_153455982del	Cone opsin cluster	Sanger sequencing	MOL01405
Exon 3 haplotype blue cone monochromacy
G-C-G-A-T-C-G-G (RLVIAVA) A-A-C-G-G-T-G-G (RMVVVVA)	OPN1LW OPN1MW	WES and PCR, PCR/RFLP, LD-PCR, Sanger sequencing	MOL0048
G-C-G-A-T-C-G-G (RLVIAVA)	OPN1LW/OPN1MW single hybrid gene	Sanger sequencing	MOL0057
G-C-G-A-T-C-G-G (RLVIAVA) A-A-C-G-G-T-G-G (RMVVVVA)	OPN1LW OPN1MW	Sanger sequencing	MOL0152
G-C-G-A-T-C-G-T (RLVIAVS)	OPN1LW	Sanger sequencing	MOL0267
G-C-G-G-G-C-G-G (RLVVAVA) A-A-C-G-G-T-G-G (RMVVVVA)	OPN1LW OPN1MW	PCR, PCR/RFLP, LD-PCR, Sanger sequencing	MOL0298
G-C-G-G-G-C-G-G (RLVVAVA) A-A-C-G-G-T-G-G (RMVVVVA) A-A-C-G-G-C-G-G (RMVVAVA)	OPN1LW OPN1MW OPN1MW	PCR, PCR/RFLP, LD-PCR, Sanger sequencing	MOL0961
G-C-G-A-T-C-G-G (RLVIAVA) A-A-C-G-G-T-G-G (RMVVVVA)	OPN1LW OPN1MW	PCR, PCR/RFLP, LD-PCR, Sanger sequencing	MOL1215
G-C-G-G-G-C-G-G (RLVVAVA) A-A-G-G-G-T-G-G (RMVVVVA)	OPN1LW OPN1MW	WES and Sanger sequencing	MOL1231
G-C-G-A-T-C-G-G (RLVIAVA) A-A-G-G-G-T-G-G (RMVVVVA)	OPN1LW OPN1MW	PCR, PCR/RFLP, LD-PCR, Sanger sequencing	MOL1383
G-C-G-A-T-C-G-G (RLVIAVA) G-C-G-A-T-C-G-G (RLVIAVA) A-A-C-A-T-T-G-G (RMVIVVA)	OPN1LW OPN1MW OPN1MW	Sanger sequencing	MOL1434
G-C-G-A-T-C-G-G (RLVIAVA) A-A-G-G-G-T-G-G (RMVVVVA)	OPN1LW OPN1MW	PCR, PCR/RFLP, LD-PCR, Sanger sequencing	MOL1459
G-C-G-G-G-C-G-G (RLVVAVA) A-A-C-G-G-C-A-G (RMVVAIA)**	OPN1LW OPN1MW	PCR, PCR/RFLP, LD-PCR, Sanger sequencing	MOL1611
G-C-G-A-T-C-G-T (RLVIAVS)	OPN1LW	WES and Sanger sequencing	MOL1654
G-C-G-A-T-C-G-T (RLVIAVS)	OPN1LW	Sanger sequencing	MOL1736

*- The haplotype in exon 3 is composed of the following variants: c.453A/G (p.151R/R), c.457A/C (p.153M/L), c.465C/G (p.155V/V), c.511G/A and c.513G/T (p.171V/I), c.521C/T (p.174A/V), c.532A/G (p. 178I/V), c.538G/T (p.180A/S). Based on this order, nucleotides are presented as “G-C-G-A-T-C-G-G” that corresponds to the protein haplotype that is shown in parenthesis “(RLVIAVA)”- the amino acids in bold represent the five missense variants that are part of the haplotype. **- This haplotype is not considered pathogenic, but cosegregates in a family that includes 3 distantly related affected individuals.