Guide RNA (AATCTTGGAATGACAGTTTG) created a GA insertion by non-homologous end joining (NHEJ) after position 438 in exon 3, resulting in an early termination codon 40 bp downstream. (J:311543)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count