Table 1.

ALG9 heterozygous mutation carriers in 122 genetically unresolved patients with PCLD–ADPKD-NMD

IdentifierNucleotide ChangeaAmino Acid ChangeMAF gnomADCADDbMetaSVMbMetaLRbREVELcFATHMM-MKLbAge/GenderKidney CystsdLiver Cysts
Cases with pathogenic ALG9 mutations
 G8261813ec.681G>Ap.W227XNovelN/AN/AN/AN/AD60/MInnumerableN/A
 YU202fc.1109G>Ap.R370K4×10−633DD0.912D56/M7:11Innumerable
Cases not explained by ALG9: benign missense variants only
 YU22gc.694G>Cp.A232P3×10−425DT0.395D67/FN/AMultiple
 YU36hc.839C>Tp.A280V7×10−631TT0.324D66/FMultiple
 453976ic.944A>Gp.N315S6×10−525TT0.574D42/FMultipleInnumerable
 YU394c.1550G>Tp.R517L4×10−627TT0.462D63/F1:0Multiple
  • Yale case cohort comprised of PCLD and mild-moderate ADPKD-NMD cases from Consortium of Radiologic Imaging Study of PKD (CRISP)/HALT Progression of Polycystic Kidney Disease (HALT PKD) cohorts. N/A, not applicable; D, deleterious; T, tolerated.

  • a ENST00000616540.4 (CCDS73380).

  • b Variant prediction (see Methods).

  • c REVEL scores range from zero to one, with one representing all simulations suggest pathogenicity.

  • d Cyst counts (right:left) or description from available imaging.

  • e HALT identifier.

  • f Mayo Clinic Family T57.

  • g Mayo Clinic Family T39.

  • h Mayo Clinic Family T17.

  • i CRISP identifier.