An EcoRI linker was inserted into exon 2. This insertion is predicted to cause a frameshift altering the identity of downstream amino acids and introducing a premature stop codon 19 amino acids after the insertion. (J:59070)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count