The casper mutation corresponds to an A-to-G transition at nucleotide position 2055, in exon 14 of 21 total exons, resulting in replacement of aspartic acid by glycine at amino acid position 636 (D676G). (J:133270)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count