CRISPR-targeting using guide #8 (AACTTCGCCCTCGGGGCTGG) altered the sequence of threonine 224 (CACC) to code for an alanine (TGCT). (J:279869)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count