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Page 253 Saleh et al. J Transl Genet Genom 2021;5:250-64 https://dx.doi.org/10.20517/jtgg.2021.23

Table 1. ABCA4 gene sequence variants identified in 52 patients with IRD
Patient_ID Allel 1 (DNA) Allel 1 (Protein) Allel 2 (DNA) Allel 2 (Protein) Group
1 c.2588G>C(;)5603A>T p.[Gly863Ala,Gly863del](;)(Asn1868Ile) c.4469G>A p.(Cys1490Tyr) 3
2 c.1609C>T p.(Arg537Cys) c.2588G>C(;)5603A>T p.[Gly863Ala,Gly863del](;)(Asn1868Ile) 3
3 c.768G>T p.[(Val256=),(Leu257Valfs*17)] c.5882G>A p.(Gly1961Glu) 2
4 c.3113C>T p.(Ala1038Val) c.5461-10T>C(;)5603A>T p.(Thr1821Valfs*13)/p.(Thr1821Aspfs*6) 3
5 c.5413A>G p.(Asn1805Asp) c.4880_4903dup p.(Leu1627_Ala1634dup) 3
6 c.1622T>C(;)3113C>T p.(Leu541Pro)(;)(Ala1038Val) c.5882G>A p.(Gly1961Glu) 2
7 c.1622T>C(;)3113C>T p.(Leu541Pro)(;)(Ala1038Val) c.5882G>A p.(Gly1961Glu) 2
8 c.288C>A p.(Asn96Lys) c.5603A>T p.(Asn1868Ile) 2
9 c.5461-10T>C(;)5603A>T p.(Thr1821Valfs*13)/p.(Thr1821Aspfs*6) c.5714+5G>A p.? 3
10 c.5882G>A p.(Gly1961Glu) c.(6005+1_6006-1)_(6822+1_?)del p.? 2
11 c.2041C>T p.(Arg681*) c.5882G>A p.(Gly1961Glu) 2
12 c.286A>G p.(Asn96Asp) c.5461-10T>C(;)5603A>T p.(Thr1821Valfs*13)/p.(Thr1821Aspfs*6) 3
13 c.67-1G>C p.? c.67-1G>C p.? 3
14 c.4773+3A>G p.? c.5461-10T>C(;)5603A>T p.(Thr1821Valfs*13)/p.(Thr1821Aspfs*6) 3
15 c.2588G>C(;)5603A>T p.[Gly863Ala,Gly863del](;)(Asn1868Ile) c.2894A>G p.(Asn965Ser) 3
16 c.5196+1G>A p.? c.5882G>A p.(Gly1961Glu) 2
17 c.2588G>C p.(Gly863Ala, G863del) c.3259G>A p.(Glu1087Asp) 1
18 c.5461-10T>C p.(Thr1821Valfs*13)/p.(Thr1821Aspfs*6) c.5882G>A p.(Gly1961Glu) 2
19 c.2588G>C(;)5603A>T p.[Gly863Ala,Gly863del](;)(Asn1868Ile) c.2893A>G p.(Asn965Asp) 3
20 c.3323G>T p.(Arg1108Leu) c.5882G>A p.(Gly1961Glu) 2
21 c.2609C>T p.(Pro870Leu) c.5908C>T p.(Leu1970Phe) 1
22 c.2291G>A p.(Cys764Tyr) - - 1
23 c.5510C>T;5527C>T p.(Pro1837Leu);(Arg1843Trp) c.3113C>T p.(Ala1038Val) 3
24 c.5882G>A p.(Gly1961Glu) c.5917del p.(Val1973*) 2
25 c.4195G>A p.(Glu1399Lys) c.4234C>T p.(Gln1412*) 3
26 c.1832T>C p.(Leu611Pro) c.4102C>T p.(Arg1368Cys) 3
27 c.3482G>A p.(Arg1161His) c.5461-10T>C(;)5603A>T p.(Thr1821Valfs*13)/p.(Thr1821Aspfs*6) 3
28 c.194G>A p.(Gly65Glu) c.1622T>C(;)3113C>T p.(Leu541Pro)(;)(Ala1038Val) 3
29 c.2588G>C(;)5603A>T p.[Gly863Ala,Gly863del](;)(Asn1868Ile) c.2588G>C p.(Gly863Ala, Gly863del) 1
30 c.1622T>C(;)3113C>T p.(Leu541Pro)(;)(Ala1038Val) c.5603A>T p.(Asn1868Ile) 2
31 c.1495T>C p.(Trp499Arg) c.1903C>T p.(Gln635*) 3
32 c.6229C>T p.(Arg2077Trp) c.5603A>T p.(Asn1868Ile) 2