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. 2014 Apr 3;15:41. doi: 10.1186/1471-2350-15-41

Table 4.

Ages of end stage renal disease in families with likely pathogenic mutation found in the PKD1 gene

Family Nucleotide change Amino acid change/predicted effect Ages of end stage renal disease in the family in years, M-male, F-female
429
c.4551_4581del31
p.Tyr1517X
M 39, M 26
236
c.5650G > T
p.Glu1884X
M 52
478
c.5824_5825dupC
p.Arg1942ProfsX47
M 40
301
c.5995G > A
p.Gly1999Ser
M 54
237
c.6960_6961insG
p.Ser2321GlufsX98
M 48, F 45
253
c.7000_7001dupGCTGGCG
p.Val2334GlyfsX87
M 61, M 60, M 36
403
c.7758_7761del4
p.Trp2587CysfsX31
F 60
357
c.7856 T > G
p.Leu2619Arg
M 41, F 57
482
c.8792-2A > T
Probable splice defect
M 43
479
c.9416_9417dupACGTGGG
p.Ile3140ArgfsX40
F 79, M 55, M 51
430
c.9584G > A
p.Trp3195X
M 57
391
c.9904G > C9906_9907delTG
p.Val3302LeufsX86
M 61
413
c.10821 + 4_10821 + 6delAGG
Probable splice defect
F43, F 49
330
c.10951G > A
p.Gly3651Ser
F73, F71, M 73
297
c.10980_10982delAGC
p.Glu3660_Ala3661delinsAsp
M 41, F 44, F 35
385
c.11172G > A
p.Trp3724X
F 49
419
c.11248C > G
p.Arg3750Gly
F 44
420
c.11884 C > T
p.Gln3962X
F 45, F 46
425
c.12004-15_12015del27
Probable splice defect
F 65, F 51
215
c.12061 C > T
p.Arg4021X
F 58, M 50, M 50
454 c.12439_12441delAAG p.Lys4147del M 67