CRISPR/Cas9 technology generated a 2 bp deletion in the coding region resulting in a frameshift mutation (c.5060_5061delGG, p.Gly1687Alafs*4). (J:292578)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count