CRISPR-Cas9 technology inserted a single base, A, at position 198 (c.198dupA) resulting in a substitution of serine for valine at residue 67 followed by a translation frameshift resulting in a premature translation stop codon four codons downstream (p.V67Sfs*4). (J:273646)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count