CRISPR-targeting introduced a point mutation (CGA to TGA) resulting in the amino acid substitution of arginine to a stop codon at position 337 (R337*). A 19 bp deletion was also introduced (NM_001004148.4:c.1685_1703delCCGACTGGGCAAATTCAAC). (J:94077)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count