CRISPR/cas9 mediated recombination using guide RNA (GGTGGTCAGCTGACCATTGA) and donor vector (ACCATGGAGATGGAAGGCAGTGGTGGTCAGCTGACCATTGATCGCAGCATCCTGGCTGCAGTTGGCAACTTCATCGTAGTC) induced a G to C mutations resulting in a G to R substitution at position 2298 in exon 40. (J:341698)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count