Table 1.

Complete genotype and segregation analysis (when available) of patients carrying a deep-intronic variant on ABCA4. Nucleotide positions and translation correspond to CCDS747.1 and NP_000341.2, respectively.

			Allele 1			Allele 2
Patient ID	Family ID		Exon/Intron	Nucleotide Change	Protein Change	Exon/Intron	Nucleotide Change	Protein Change
CIC00251	174	Index	42	c.5882G>A	p.(Gly1961Glu)	IVS30	c.4539+2064C>T	p.[=,Arg1514Leufs*36]
CIC00454	174	Unaffected father	42	c.5882G>A	p.(Gly1961Glu)	reference sequence
CIC00455	174	Unaffected mother	reference sequence			IVS30	c.4539+2064C>T	p.[=,Arg1514Leufs*36]
CIC01275	765	Index	10	c.1344del	p.(Ile449Metfs*3)	IVS30	c.4539+2064C>T	p.[=Arg1514Leufs*36]
CIC01276	765	Unaffected mother	reference sequence			IVS30	c.4539+2064C>T	p.[=Arg1514Leufs*36]
CIC01277	765	Unaffected father	10	c.1344del	p.(Ile449Metfs*3)	reference sequence
CIC02688	960	Index	42	c.5888del	p.(Pro1963Argfs*11)	IVS36	c.5196+1137G>A	p.[=,Met1733Glufs*78]
CIC03648	1602	Index	IVS38	c.5461-10T>C	p.[Thr1821Aspfs*6, Thr1821Valfs*13]	IVS28	c.4253+43G>A	p.[=,Ile1377Hisfs*3]
			40	c.5603A>T	p.(Asn1868Ile)
CIC03649	1602	Unaffected aunt	IVS38	c.5461-10T>C	p.[Thr1821Asp*6, Thr1821Valfs*13]	reference sequence
			40	c.5603A>T	p.(Asn1868Ile)
CIC04422	2138	Index	28	c.4139C>T	p.(Pro1380Leu)	IVS36	c.5196+1137G>A	p.[=,Met1733Glufs*78]
CIC04795	2391	Index	28	c.4139C>T	p.(Pro1380Leu)	IVS36	c.5196+1137G>A	p.[=,Met1733Glufs*78]
CIC06528	3493	Index	IVS40	c.5714+5G>A	p.[=,Glu1863Leufs*33]	IVS30	c.4539+2064C>T	p.[=,Arg1514Leufs*36]
CIC07955	3493	Affected cousin	IVS40	c.5714+5G>A	p.[=,Glu1863Leufs*33]	IVS30	c.4539+2064C>T	p.[=,Arg1514Leufs*36]
CIC06981	3831	Index	22	c.3322C>T	p.(Arg1108Cys)	IVS36	c.5196+1137G>A	p.[=,Met1733Glufs*78]
CIC08281	4645	Index	43	c.5914G>A	p.(Gly1972Arg)	IVS28	c.4253+43G>A	p.[=,Ile1377Hisfs*3]
CIC07459	4128	Index	13	c.1804C>T	p.(Arg602Trp)	IVS36	c.5196+1137G>A	p.[=,Met1733Glufs*78]
CIC07460	4128	Unaffected mother	reference sequence			IVS36	c.5196+1137G>A	p.[=,Met1733Glufs*78]
CIC07461	4128	Unaffected father	13	c.1804C>T	p.(Arg602Trp)	reference sequence
CIC08968	4128	Unaffected sister	reference sequence			reference sequence
CIC08809	5010	Index	6	c.688T>G	p.(Cys230Gly)	IVS30	c.4539+2064C>T	p.[=,Arg1514Leufs*36]
CIC09117	5207	Index	6	c.686T>C	p.(Leu229Pro)	IVS28	c.4253+43G>A	p.[=,Ile1377Hisfs*3]
CIC09118	5207	Unaffected mother	6	c.686T>C	p.(Leu229Pro)	reference sequence
CIC09119	5207	Unaffected father	IVS28	c.4253+43G>A	p.[=,Ile1377Hisfs*3]	IVS28	c.4253+43G>A	p.[=,Ile1377Hisfs*3]
CIC09817	5639	Index	40	c.5603A>T	p.(Asn1868Ile)	IVS28	c.4253+43G>A	p.[=,Ile1377Hisfs*3]
CIC10544	6093	Index	13	c.1804C>T	p.(Arg602Trp)	IVS36	c.5196+1137G>A	p.[=,Met1733Glufs*78]