CRISPR/Cas9 technology generated a 86 bp deletion in exon 2. Sequencing of cDNA shows that the entire exon 2 is absent which is probably due to loss of the GT-AG splice site causing splicing to skip through exon 2. (J:314284)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count