Table 4.
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 |