Molecular Vision: Sundaresan, Mol Vis 2009; 15:1781-1787. Table 1

Table 1. Genotypes for deliberately assessed alleles.

Gene	Mutation	NL	Mut		Gene	Mutation	NL	Mut		Gene	Mutation	NL	Mut
Gene	Mutation	NL	Het	Hom	Gene	Mutation	NL	Het	Hom	Gene	Mutation	NL	Het	Hom
AIPL1	VAL71PHE	38	0	0	GUCY2D	MET1ILE	38	0	0	RPE65	GLY40SER	38	0	0
	MET79THR	37	0	0		LEU41PHE	38	0	0		ARG44GLN	38	0	0
	TRP88STOP	37	0	0		TYR173ins6tACGCCC	38	0	0		GLY46del1G	38	0	0
	CYS89ARG	37	0	0		ARG313CYS	38	0	0		ARG91GLN	38	0	0
	ALA197PRO	38	0	0		LEU325PRO	37	0	0		ARG91TRP	38	0	0
	LYS242del3AAG	38	0	0		SER448STOP	38	0	0		GLU102STOP	38	0	0
	TRP278STOP	38	0	0		ARG540CYS	38	0	0		ARG124STOP	38	0	0
	LEU293PRO	38	0	0		ARG660STOP	38	0	0		ALA132THR	37	0	0
	ARG302LEU	38	0	0		TYR746CYS	38	0	0		THR162PRO	37	0	0
	IVS3 1G>A	38	0	0		GLU750STOP	34	0	0		ASN205del2aaCA	38	0	0
CRB1	PHE144VAL	38	0	0		ARG768TRP	38	0	0		ARG234STOP	38	0	0
	THR289MET	38	0	0		THR839ALA	38	0	0		TYR239ASP	37	0	0
	CYS383TYR	38	0	0		LEU954PRO	38	0	0		VAL287PHE	38	0	0
	CYS681TYR	38	0	0		SER981del1G	38	0	0		TYR318ASN	38	0	0
	GLU710GLN	38	0	0		CYS984TYR	38	0	0		CYS330TYR	38	0	0
	MET741THR	38	0	0		MET1009LEU	38	0	0		LEU341SER	36	0	0
	PRO748del3cCAT	38	0	0		HIS1019PRO	38	0	0		ALA360PRO	38	0	0
	ARG764CYS	38	0	0		ARG1029SER	38	0	0		TYR368HIS	37	0	1
	LYS801STOP	38	0	0		GLN1036STOP	38	0	0		ALA393GLU	38	0	0
	GLY827STOP	38	0	0		IVS9–2T>A	38	0	0		GLU417GLN	38	0	0
	ILE852THR	38	0	0		IVS16–4A>T	33	0	0		TRP460CYS	38	0	0
	ASN871ins1aaT	34	0	0	NPHP6	IVS26 c.2991+1655	38	0	0		GLU462STOP	38	0	0
	CYS896STOP	38	0	0	RDH12	THR49MET	38	0	0		VAL473ASP	38	0	0
	SER1025ILE	38	0	0		LEU99ILE	38	0	0		GLY528VAL	38	0	0
	ILE1100ARG	38	0	0		GLY127STOP	38	0	0	RPGRIP1	ASP248HIS	38	0	0
	LEU1107ARG	38	0	0		HIS151ASP	38	0	0		SER502ins4tcTGTC	38	0	0
	LEU1107PRO	35	0	0		SER175PRO	37	0	0		ARG580GLY	36	0	0
	TRP1293STOP	38	0	0		TYR194STOP	35	0	0		GLY746GLU	38	0	0
	ASN1317HIS	38	0	0		ALA206ASP	38	0	0		LEU856ins2cTT	38	0	0
	CYS1321GLY	35	0	0		TYR226CYS	38	0	0		ASP877GLY	38	0	0
	GLU1330del1G	37	0	0		PRO230ALA	38	0	0		GLU1279del3GAG	32	0	0
	IVS10–1G>T	38	0	0		ALA269del5CCCTG	38	0	0		IVS8–3A>G	37	0	0
CRX	GLU173del1G	38	0	0		IVS5–1G>A	38	0	0		IVS15–1G>A	38	0	0
	VAL180del1G	38	0	0							IVS16–1G>A	38	0	0
	TYR191del1T	38	0	0
	TYR195STOP	35	0	0
	GLY217del1G	35	0	0

The presence or absence of LCA-causing alleles as assessed by SNPlex allele specific ligation assay and bidirectional sequencing (NPHP6 IVS26 c.2991+1655 only) are shown by gene. For each allele assessed, the number of proband samples identified as homozygous normal (NL), heterozygous for a disease causing allele (Mut - Het) or homozygous for a disease causing allele (Mut - Homo) are shown. Any discrepancy between the sum of these numbers and the 38 samples assayed is due to failed allele calls.