A 6 bp insertion (AAGCGG) in exon 12, starting at nucleotide 1314, results in a duplication of codons 411 and 412, creating a Glu Ala Glu Ala sequence from codons 411-414. (J:93938)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count