Mutations in DLG5 in five individuals from four families with congenital anomalies and/or SRNS
| Family (individual) | Phenotype | Nucleotide change | Amino acid change | Exon (zygosity) | PPH2 score | CADD score | SIFT | MT | Species of amino acid conservation | gnomAD | Sex | Ethnic origin |
| III 2–1 | SRNS | c.497G>A | p.Arg166His | Exon 3 (Cmp) | 0.956 | 23.6 | Del | DC | Pt, Mm, Xt, Dr | 0/5/245918 | Female | European |
| I 2–1 | CAKUT, CHD, LA | c.745C>T | p.Arg249Trp | Exon 5 (DN) | 1 | 27 | Del | DC | Pt, Mm, Xt, Dr | 0/3/242960 | Male | European |
| IV 2–1 | CFD, HC, LA | c.2461C>T | p.Arg821Ter | Exon 15 (Hom) | NA | 40 | NA | NA | NA | NP | Male | European |
| III 2–1 | SRNS | c.3214C>T | p.Arg1072Cys | Exon 15 (Cmp) | 0.818 | 29.9 | Del | DC | Pt, Mm, Dr | 0/154/277032 | Female | European |
| II 1–1 | CAKUT | c.4526AG>TT | p.Gln1509Leu | Exon 24 (Het) | 0.179 | 23.6 | Del | DC | Pt, Mm, Dr | NP | Male | European |
| II 2–1 | CAKUT | c.4526AG>TT | p.Gln1509Leu | Exon 24 (Het) | 0.179 | 23.6 | Del | DC | Pt, Mm, Dr | NP | Male | European |
CADD, combined annotation-dependent depletion; CAKUT, congenital anomalies of the kidney and urinary tract; CFD, craniofacial defects; DC, disease causing; DLG5, discs large 5; Dr, Danio rerio; gnomAD, Genome Aggregation Database; HC, hydrocephalus; Het, heterozygous; Hom, homozygous; LA, limb abnormalities; Mm, mus musculus; MT, Mutation Taster (prediction software); NA, not applicable; NP, not present; PPH2, PolyPhen-2 (prediction software); Pt, pan troglodytes; SIFT, Sorting Intolerant From Tolerant (prediction software); SRNS, steroid-resistant nephrotic syndrome; Xt, Xenopus tropicalis.