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. 2018 Aug 1;24:546–559.

Table 6. Distribution of pathogenic variants in the ABCA4 gene.

Complex alleles
Nucleotide Change Protein Change Location Allele†
c.4926C>G
p.Ser1642Arg
35
7
c.5044_5058del15
p.Val1682_Val1686del
36
c.1622T>C
p.Leu541Pro
12
7
c.4328G>A
p.Arg1443His
29
c.5282C>G
p.Pro1761Arg
37
2
c.6316C>T
p.Arg2106Cys
46
c.5882 G>A
p.Gly1961Glu
42
1
c.3113 C>T
p.Ala1038Val
21
c.1622T>C
p.Leu541Pro
12
3
c.3113C>T
p.Ala1038Val
21
c.3113C>T p.Ala1038Val 21 1

† Number of alleles that each complex allele has apear.