Table 2.

Alg9 loss-of-function mutations carriers with abdominal imaging among 92,455 patients in a health system

Identifier/GenderNucleotide ChangeaAmino Acid ChangeMAF gnomADImaging Type (age)bKidney CystscTSTCcNephrolithiasisdeGFR (age)e
Cases in case-control analysis
 Kidney cysts
  MC2/Fc.427C>Tp.R143XNovelMRI (65)1018Y60 (65)
  MC3/Mc.1295C>Ap.S432XNovelUS (73)Innumerable+26 (75)
  MC5/Fc.1018+1G>ASplice variantNovelCT+ (86)39f51Yg38 (96)
  MC7/Mc.1472delAp.N491IfsTer33NovelCT+ (69)6 (9)22Y74 (73)
  MC9/Fc.506dupTp.S170EfsTer24NovelUS (66)5+90 (66)
  MC10/Mc.883_885delCCT_insGTAAAp.P295VfsTer13NovelCT+ (68)921Y52 (75)
  MC12/Fc.511C>Tp.R171X8.13E−06CT+ (61)4 (9)2046 (63)
 One or fewer cysts
  MC1/Mc.1018+1G>ASplice variantNovelCT+ (42)150 (51)
  MC4/Fc.1088_1091delTCCAp.I363SfsTer524.06E−06CT+ (82)47 (85)
  MC8/Fc.3G>AStart lossNovelCT+ (37)172 (44)
  MC14/Fc.3G>AStart lossNovelMRI+ (37)13+90 (44)
Cases not matched for case-control analysis
  MC6/Mc.1018+1G>ASplice variantNovelCT+ (76)Yh47 (78)
  MC11/Fc.1363C>Tp.R455X4.06E−06CT (70)Yh,iESKD (66)
  MC13/Fc.566-1G>ASplice variant1.22E−05CT+ (49)Yh97 (50)
  • US, ultrasound.

  • a ENST00000616540.4 (CCDS73380).

  • b +, with contrast.

  • c Kidney cysts (>8 mm) and lesions TSTC (4–8 mm) as described in Methods and Results. When additional imaging allowed for recharacterization of indeterminate masses as cysts, cyst count inclusive of these is noted in parentheses after count from originally selected image.

  • d Noted during blinded analysis. Y, yes; +, nephrolithiasis noted on additional CT scan if available.

  • e Most recent outpatient eGFR.

  • f Among cases with liver imaging, this was the only case with liver cysts noted.

  • g Pathology of bilateral nephrolithiasis demonstrated uric acid composition.

  • h Based on clinical radiology report.

  • i Native kidneys by CT 2/4 yr after transplant/ESKD.