CRISPR/Cas9 technology inserted 4 bp and generated a frameshift starting at glutamine 1970 in exon 36 resulting in a premature stop codon 16 amino acids further downstream (Q1970fsX16). (J:292405)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count