Table 1. Known Sequence Changes Tested in the Validation and Reproducibility assay.

Family ID	Gene	Nucleotide changeProtein changeGenotype	MutationType	Calls of the arrays using the IUPAC Base Code*	Reference
RP 21	TULP1	c.823-4A>GHeterozygous	Splice site mutation	Detected as R	[37]
RP 242	TULP1	c.430A>Gp.K96EHeterozygous	Missense	Detected as R	Unpublished
RP 57	TULP1	c.1255C>Gp.R419GHeterozygous	Missense	Detected as S	Unpublished
RP 60	EYS	c.78-79insGCp.Q27RfsX16Heterozygous	Insertion frameshift	Not Detected	[5]

*IUPAC Base Codes: The symbol R to designate PuRine (A or G); S to designate Strong interaction (C or G).