CRISPR targeting introduced a G to A point mutation in exon 4 that results in the amino acid substitution of glutamine for arginine at position 51 (R51Q). (J:289051)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count