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.