CRISPR-targeting introduced a C to G point mutation (c.1783C to G) encoding the amino acid substitution of histidine with aspartic acid at position 595 (H595D) and two silent mutations (c.1788C to A (I596I) and c.1791T to C (Y597Y)) to avoid re-cleavage by Cas9. (J:318756)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count