. 2017 Nov 29;8(12):355. doi: 10.3390/genes8120355

Table 3.

Thirteen unrelated Brazilian Probands diagnosed with LCA or EOSRD and solved by mutations in retinal disease genes not typically associated with LCA.

Family	Patient ID	Gene	HGMD Refseq ID	Genotype	gDNA Change	cDNA Change	Protein Change	HGMD Pubmed ID
3	FBP_1	ABCA4	NM_000350.2	Homozygous	chr1:94486888 G>C	c.4926C>G	p.Ser1642Arg	11846518; 23953153; 24713488
3	FBP_1	ABCA4	NM_000350.2	Homozygous	chr1:94485275 TCACGCAGATGGCAAC>T	c.5044_5058del	p.1682_1686del	9054934; 23755871; 24713488
5	FBP_3	CNGB3	NM_019098.4	Heterozygous	chr8:87680283 G>A	c.607C>T	p.Arg203*	15258582
5	FBP_3	CNGB3	NM_019098.4	Heterozygous	chr8:87656008 AG>A	c.1148delC	p.Thr383fs	20683928
8	FBP_9	ABCA4	NM_000350.2	Heterozygous	chr1:94471056 G>A	c.6088C>T	p.Arg2030*	9973280; 23755871
8	FBP_9	ABCA4	NM_000350.2	Heterozygous	chr1:94508433 G>GAC	c.3211_3212insGT	p.Ser1071fs	9054934; 23755871; 24265693
13	FBP_35	PDE6C	NM_006204.3	Homozygous	chr10:95422844 AG>A	c.2428delG	p.Val810*	Novel
18	FBP_53	INPP5E	NM_019892.4	Heterozygous	chr9:139327633 C>T	c.1133G>A	p.Arg378His	Novel
18	FBP_53	INPP5E	NM_019892.4	Heterozygous	chr9:139324200 C>T	c.G1862G>A	p.Arg621Gln	2303453
22	FBP_60	PROM1	NM_006017.2	Homozygous	chr4:15989283 TA>T	c.2130+2del	p.?	Novel
23	FBP_61	ABCA4	NM_000350.2	Heterozygous	chr1:94496008 C>T	c.4328G>A	p.Arg1443His	10958763
			NM_000350.2	Heterozygous	chr1:94528266 G>A	c.1804C>T	p.Arg602Trp	9973280; 16103129; 23695285
			NM_000350.2	Heterozygous	chr1:94528806 A>G	c.1622T>C	p.Leu541Pro	9781034; 11017087; 16103129
26	FBP_65	ABCA4	NM_000350.2	Heterozygous	chr1:94528266 G>A	c.1804C>T	p.Arg602Trp	9973280; 16103129; 23695285
26	FBP_65	ABCA4	NM_000350.2	Heterozygous	chr1:94528806 A>G	c.1622T>C	p.Leu541Pro	9781034; 11017087; 16103129
30	FBP_131	ABCA4	NM_000350.2	Homozygous	chr1:94528266 G>A	c.1804C>T	p.Arg602Trp	9973280; 16103129; 23695285
31	FBP_169	NRL	NM_006177.3	Heterozygous	chr14:24550743 G>C	c.416C>G	p.Ser139Trp	Novel
31	FBP_169	NRL	NM_006177.3	Heterozygous	chr14:24550504 AG>A	c.654delC	p.Arg218fs	15591106; 17335001; 22334370
32	FBP_170	ALMS1	NM_015120.4	Heterozygous	chr2:73675871 TC>T	c.2215delC	p.Leu739fs	Novel
32	FBP_170	ALMS1	NM_015120.4	Heterozygous	chr2:73676715 T>TA	c.3059dupA	p.Tyr1020_Ala1021delins*	Novel
33	FBP_171	CNGB3	NM_019098.4	Homozygous	chr8:87656008 AG>A	c.1148delC	p.Thr383fs	10888875; 12815043; 16379026
39	FBP_327	AHI1	NM_017651.4	Heterozygous	chr6:135754219 G>A	c.2212C>T	p.Arg738*	16453322; 21866095
39	FBP_327	AHI1	NM_017651.4	Heterozygous	chr6:135777010 AG>A	c.1205delC	p.Pro402fs	Novel