CRISPR/Cas9 technology introduced a 3 bp CCC to TTG change in exon 12 resulting in a proline to leucine substitution at position 479 (P479L). (J:284256)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count