CRISPR/Cas9 technology generated an AA to TG change at position 644-645 resulting in a lysine to methionine change at amino acid 215 (p.K215M) in exon 5. (J:292926)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count