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. 2015 Dec 3;5:17468. doi: 10.1038/srep17468

Table 2. Definite pathogenic mutations in PKD1 and PKD2 found in this study.

Family No. Exon/intron cDNA change Protein change Mutation Type Proband No. Family history Previous description
PKD1
28 1 c.90C > A p.Cys30Ter Nonsense G0586 Yes Novel
17 3 c.338-341delATTT p.Asn113AsnfsX3 Frameshift G0211 Yes Novel
13 4 c.412C > T p.Arg138Ter Nonsense G1739 Yes PKDB
20 5 c.937G > T p.Glu313Ter Nonsense G0214 Yes PKDB
51 11 c.2711-2712delAG p.Glu904GlyfsX195 Frameshift G1604 Yes Novel
42 13 c.3068delA p.Gln1023ArgfsX14 Frameshift G0463 Yes Novel
1 15 c.4306C > T p.Arg1436Ter Nonsense G0256 Yes PKDB
9 15 c.4369-4370delTC p.Ser1457SerfsX64 Frameshift G0315 Yes PKDB
41 15 c.5014-5015delAG p.Arg1672GlyfsX97 Frameshift G0262 Yes PKDB
32 15 c.5863delC p.His1955ThrfsX1 Frameshift G0679 Yes Novel
48 15 c.5912-5913delTG p.Val1971GlufsX18 Frameshift G1052 Yes PKDB
37 15 c.6465-6466delGC p.Leu2155LeufsX18 Frameshift G1103 Yes Novel
33 15 c.6635delG p.Ser2212ThrfsX29 Frameshift G0680 Yes Novel
5 19 c.7566C > A p.Cys2522Ter Nonsense G0246 Noa Novel
49 21 c.7867G > T p.Glu2623Ter Nonsense G1436 Noa Novel
27 IVS21 c.8017-2-1delAG p.Gly2673fs Splice G0576 Yes PKDB
11 23 c.8606-8607delAG p.Gln2869AlafsX66 Frameshift G0111 Yes PKDB
19 24 c.8495-8496insA p.His2932GlnfsX4 Frameshift G0213 Yes Novel
39 40 c.11313delG p.Ser3771SerfsX54 Frameshift G0017 Noa Novel
14 40 c.11343C > A p.Tyr3781Ter Nonsense G0054 Yes 16
21 41 c.11433-11439dupCGTGTAT p.Ala3812ValfsX4 Frameshift G0224 Noa Novel
15 43 c.11719-11720dupCT p.Leu3907LeufsX37 Frameshift G0092 Yes Novel
46 43 c.11944C > T p.Gln3982Ter Nonsense G0863 Yes PKDB
45 43 c.11977-11978insT p.Ser3993PhefsX163 Frameshift G0858 Yes Novel
34 45 c.12169delG p.Val4057TrpfsX139 Frameshift G0865 Yes Novel
3 45 c.12391delG p.Glu4131SerfsX67 Frameshift G0251 Yes Novel
50 46 c.12682C > T p.Arg4228Ter Nonsense G1543 Yes PKDB
36 46 c.12712C > T p.Gln4238Ter Nonsense G1021 Yes PKDB
30 1 EX1del Large deletion G0677 Yes 25
52 21 EX21del Large deletion G0121 Yes Novel
40 1–30 EX1-30del Large deletion G0018 Noa Novel
PKD2
44 IVS1 c.595_595 + 14delGGTAAGAGCGCGCGA   Splice G0904 Yes Novel

PKDB, Polycystic Kidney Mutation Database.

ade novo mutation.