Exons 31-34 were replaced with a selection cassette, resulting in a frameshift at exon 31 and truncating polycystin-1 in the second cytoplasmic loop. (J:220561)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count