Table 2 of Roshan, Mol Vis 2010; 16:887-896.
Genotype | |||||
---|---|---|---|---|---|
SNPs (Mutation/polymorphism) |
Father (Affected) |
Mother |
Son (Affected) |
Daughter (Affected) |
Son |
NG_008039.1 :g.5277T>C; Y17Y | CT | CC | CT | CT | CC |
NG_008039.1 :g.5278G>A; E18F | GG | GA | GG | GG | GA |
NG_008039.1 :g.5455C>A; R77S | CA | CC | CA | CA | CC |
NG_008039.1 :g.7677A>G; R95R | GG | GA | GG | GG | GA |
NG_008039.1 :g.7929T>C;------- | CC | CT | CC | CC | CT |