CRISPR-targeting of exon 25 inserted a G-to-A and A-to-C mutations at positions 5490 and 5492 resulting in the amino acid substitution of glutamic acid with alanine at position 1831 (E1831A). (J:332649)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count