CRISPR-targeting substituted GGA CTC to CGT CTT resulting in the amino acid substitution of arginine for glycine at position 2037 (G2037R) in exon 73. (J:342863)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count