CRISPR/Cas9 technology targeting exon 6 (the first coding exon) generated a 7 bp (ATCGCAC) deletion leading to a frameshift mutation at c.28 resulting in a predicted stop codon at c.231. (J:326588)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count