A missense mutation was generated in exon 9 by mutating the GCC codon with GAC to encode A322D followed with neomycin cassette in intron 9. (J:227437)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count