CRISPR-targeting introduced a nucleotide substitution (G to A) that results in the amino acid substitution of alanine with threonine at position 250 (A250T). (J:313844)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count