TABLE 5.

Apparently Benign Coding Sequence Variants in This Population

Gene	Variant	cDNA	Evidencea	Frequency
Rhodopsin	GLy120Gly	360C>T (GGC→GGT)	2	.02
	Thr160Thr	480C>T (ACC→ACA)	2	<.01
	Ala173Ala	519C>T (GCC→GCT)	2	<.01
	Ser186Ser	558G>A (TCG→TCA)	2	<.01
	Ser297Ser	891C>T (AGC→AGT)	2	<.01
Peripherin/RDS	Val106Val	318C>T (GTC→GTT)	2	.26
	Glu304Gln	910G>C (GAG→GCT)	3 Keen et al. [1996]	.23
	Lys310Arg	929A>G (AAG→AGG)	3 Keen et al. [1996]	.10
	Gly336Gly	1008C>T (GGC→GGT)	2	<.01
	Gly338Asp	1014G>A (GGC→GAC)	3 Keen et al. [1996]	.22
RP1	Arg872His	2615G>A (CGT→CAT)	3 Sullivan et al. [1999]	.25
	Asn985Tyr	2953A>T (AAT→TAT)	3 Sullivan et al. [1999]	.46
	Arg1595Gln	4784G>A (CGG→CAG)	1	<.01
	Ala1670Thr	5008G>A (GCA→ACA)	3 Sullivan et al. [1999]	.22
	Ser1691Pro	5071T>C (TCT→CCT)	3 Sullivan et al. [1999]	.23
	Gln1725Gln	5175A>G (CAA→CAG)	3 Sullivan et al. [1999]	.20
	Cys2033Tyr	6098A>G (TAT→TGT)	3 Sullivan et al. [1999]	.46
	Leu808Pro	5423T>C (CTG→CCG)	1	.01
	Ile2122Ile	6366T>C (ATT→ATC)	2	<.01
CRX	His10Asp	28C>T (CAC→GAC)	2	<.01
	Val66Ile	196G>A (GTC→ATC)	1	<.01
	Gly122Asp	365G>A (GGC→GAC)	4	<.01
	Ala158Thr	472G>A (GCC→ACC)	3 Swain et al. [1997]	<.01
	Gly183Gly	538G>A (GGG→GGA)	2	<.01
	Ser199Ser	596C>T (TCC→TCT)	1	<.01
AIPL1	Phe37Phe	111T>C (TTT→TTC)	2	.02
	Ser78Ser	234C>T (TCC→TCT)	2	<.01
	Cys89Cys	287C>T (TGC→TGT)	2	.01
	Asp90His	268G>C (GAC→CAC)	1	.16
	Leu100Leu	300G>A (CTG→CTA)	2	.43
	His172His	516T>C (CAT→CAC)	2	<.01
	Pro217Pro	651G>A (CCG→CCA)	2	.39
	Asp255Asp	765T>C (GAT→GAC)	2	<.01

^aEvidence that variant is benign: 1 = does not segregate with retinal disorder in one or more families; 2 = Silent substitution; 3 = published reference; 4 = variance identified in unaffected controls.