Table 4 Details of the probably pathogenic mutations
From: Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease
Patient ID | Region | cdna change | Amino Acid Change | Type | Previous description |
|---|---|---|---|---|---|
PKD1 | Â | Â | Â | Â | Â |
08012 | EX15E | c.4810G > A | p.Val1604Met | Substitution | Novel |
09049 | EX26 | c.9335G > T | p.Cys3112Phe | Substitution | Novel |
08009 | EX26 | c.9388C > T | p.Arg3130Trp | Substitution | Novel |
09028 | EX29 | c.9884A > G | p.Asn3295Ser | Substitution | Novel |
09040 | EX40 | c.11285C > T | p.Pro3762Leu | Substitution | Novel |
PKD2 | Â | Â | Â | Â | Â |
09039 | EX4 | c.1034A > G | p.Tyr345Cys | Substitution | Novel |