CRISPR-targeting of exon 9 introduced the mutation (GAT to CGC) responsible for the amino acid substitution of aspartic acid with arginine at position 326 (D326R). (J:327550)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count