CRISPR/Cas9 technology generated a G to A change at position 644 in the cDNA resulting in a cysteine to tyrosine mutation at amino acid 215. (J:319706)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count