Table 2 The results of the next-generation sequencing of the patient
Variant gene | Location | Transcriptional exons | Nucleotide amino acids | Homozygous /heterozygous | Prevalence in Control population | Analysis of pathogenicity | Phenotype of mutation | Source |
|---|---|---|---|---|---|---|---|---|
COL43A | chr2–228,144,556 | NM-000091; exon29 | c.2173A > G (p.K725E) | Het | Not reported | Uncertain | Alport syndrome; familial hematuria | Father |
COQ8B | chr19–41,209,508 | NM-024876; exon9 | c.737G > A (p.S246N) | Het | 0.00435 | Uncertain | Type 9 nephrotic syndrome | Father |
COQ8B | chr19–41,209,736-41,209,778 | NM-024876; exon8 | c.577-600del (p.193-200del) | Het | Not reported | Uncertain | Type 9 nephrotic syndrome | Mother |