CRISPR/Cas9 technology generated a 9 bp in-frame deletion (CATCCGATT) in exon 26 within the voltage sensor of domain 4 which includes removal of the positively charged R1618 residue (p.I1617_L1619del). (J:335369)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count