An A-to-T at coding nucleotide 850 in exon 8 created a stop codon at lysine codon 284 (p.K284*). (J:93356, J:136818)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count