CRISPR-targeting with gRNA(5'-TTTCCTGCTGCAGCTTTATCAGG-3') introduced a point mutation in exon 12 L1363P (CTG>CCC) and silent mutations in K1362K (AAG>AAA) and I1361I (ATA>ATT). (J:316877)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count