Exon 8 was targeted using two gRNAs and an ssODN template with CRISPR/Cas9 technology, resulting in a premature stop codon (TAA) in place of an alanine codon at position 280 (GCA) (p.A280*). (J:298361)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count