From: Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease
Gene
Exon/Intron
cDNA change
AA change
Known/Novel
HSF prediction
Family history
PKD1
42
c.11604G > Ca
p.Thr3868=
Novel
Potentially affects enhancer motif
+
PKD2
IVS1
c.595 + 15C > T
?
No effect on normal splicing
-