Molecular Vision: Salles, Mol Vis 2018; 24:546-559. Table 7

Table 7. Distribution of pathogenic variants in the ABCA4 gene.

Single alleles
Nucleotide Change	Protein Change	Location	Allele†
c.32T>C	p.Leu11Pro	1	1
c.66G>T	p.Lys22Asn	1	2
c.70C>T	p.Arg24Cys	2	1
c.223T>G	p.Cys75Gly	3	1
c.286A>G	p.Asn96Asp	3	5
c.455G>A	p.Arg152Gln	5	1
c.634C>T	p.Arg212Cys	6	2
c.658C>T	p.Arg220Cys	6	1
c.1364 T>A	p.Leu455Gln	11	1
c.1648G>A	p.Gly550Arg	12	1
c.1804C>T	p.Arg602Trp	13	12
c.2345G>A	p.Trp782*	15	2
c.2743G>A	p.Asp915Asn	19	1
c.2791G>A	p.Val931Met	19	1
c.2894 A>G	p.Asn965Ser	19	1
c.3056C>T	p.Thr1019Met	21	1
c.3329–2A>T	p.?	Intron 22	2
c.3386G>T	p.Arg1129Leu	23	3
c.3862+1G>A	p.?	Intron 26	3
c.3898C>T	p.Arg1300*	27	1
c.4003_4004delCC	p.Pro1335Argfs*86	27	1
c.4340A>T	p.Glu1447Val	29	1
c.4457C>T	p.Pro1486Leu	30	1
c.4720G>T	p.Glu1574*	33	1
c.5044_5058del15	p.Val1682_Val1686del	36	1
c.5381C>A	p.Ala1794Asp	38	2
c.5461–10T>C	p.[Thr1821Valfs13, Thr1821Aspfs6]	Intron 38	1
c.5714+5G>A	p.?	Intron 40	2
c.6005+1G>T	p.?	Intron 43	1
c.6079C>T	p.Leu2027Phe	44	2
c.6088C>T	p.Arg2030*	44	3
c.6112C>T	p.Arg2038Trp	44	1
c.6250G>C	p.Ala2084Pro	45	1
c.6320G>A	p.Arg2107His	46	1

Novel vatiant.† Number of alleles that each variant has apear.Patient 27 was excluded of this table due to the absence of segregation analysis. FAF, Fundus autofluorescence; Pt, Patient; N/A, not available; HM, Hand movement; FC, Finger counting. Novel variant. †Homozygous variants. ‡c.5044_del15bp, nonframeshift deletion (c.5044_5058delGTTGCCATCTGCGTG). Families: Siblings: 4 and 6; 17 and 20; 18 and 19; 41 and 49. Mother 44 and daughter 43. Mother 45 and daughter 36. § Consanguinity •Patient 27 presented with 3 pathogenic variants, but without segregation analysis it was impossible to determinate which of them are combined in cis.