The mutation is a G-to-A transition at the last base of VEGA exon OTTMUSE00000329891 leading to the splicing out of this exon, which results in a frameshift and subsequently the introduction of a premature stop codon at amino acid position 303. (J:67045, J:101682)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count