Sequence analysis identified the transversion of an C-to-A at coding nucleotide 1292, resulting in an alanine to aspartic acid missense mutation at codon 431 (p.A431D).
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count