Table 1.
Identified putatively pathogenic variants.
| Patient ID | Sex | Age at first dialysis | Gene | Variant | Zygosity | ACMG/AMP26 | Causality |
|---|---|---|---|---|---|---|---|
| 1 | F | 20 | CD46 | c.286 + 2T>G p.(Lys49_Arg96del) | Hom | P | Causative |
| 2 | F | 28 | COL4A3 | c.2083G>A p.(Gly695Arg) | Het | P | Causative |
| 3 | F | 25 | COL4A3 |
c.3580del p.(Arg1194Glyfs*27) c.4803del p.(Gly1602Alafs*13) |
Het Het |
P P |
Causative |
| 4 | M | 32 |
COL4A3 COL4A4 |
Exon 3 deletion Exon 4 deletion |
Het Het |
P P |
Causative |
| 5 | F | 56 | COL4A4 | c.4129C>T p.(Arg1377*) | Het | P | Causative |
| 6 | F | 41 | COL4A5 | c.3508G>A p.(Gly1170Ser) | Het | P | Causative |
| 7 | M | 22 | COL4A5 | c.3482G>A p.(Gly1161Glu) | Hem | P | Causative |
| 8 | M | 42 | INF2 | c.652C>T p.(Arg218Trp) | Het | P | Causative |
| 9 | F | 44 | INF2 | c.653G>A p.(Arg218Gln) | Het | P | Causative |
| 10 | M | 21 | TTC21B | c.626C>T p.(Pro209Leu) | Hom | P | Causative |
| 11 | M | 18 | TTC21B | c.626C>T p.(Pro209Leu) | Hom | P | Causative |
| 12 | M | 33 | COL4A4 | c.481G>C p.(Gly161Arg) | Het | LP | Likely causative |
| 13 | M | 33 | COL4A5 | c.1708G>A p.(Gly570Arg) | Hem | LP | Likely causative |
| 14 | M | 25 | NPHP4 |
c.1124_1125insCC p.(Ser376Leufs*31) c.3766C>T p.(Gln1256*) |
Het Het |
LP LP |
Likely causative |
| 15 | M | 34 | CD2AP | c.682C>T p.(Arg228Trp) | Het | VUS | Possibly causative |
| 16 | M | 45 | CFI | c.950G>A p.Arg317Gln | Het | VUS | Possibly causative |
| 17 | F | 20 | COL4A5 | c.4396C>T p.(Arg1466Cys) | Hem | VUS | Possibly causative |
| 18 | F | 35 | GLA | c.352C>T p.(Arg118Cys) | Het | VUS | Possibly causative |
| 19 | M | 28 | INF2 | c.*1 + 1G>C p.? | Het | VUS | Possibly causative |
| 20 | F | 21 | INF2 | c.2440G>A p.(Asp814Asn) | Het | VUS | Possibly causative |
| 21 | M | 21 | LAMB2 | c.2809C>T p.(Arg937Trp) | Hom | VUS | Possibly causative |
| 22 | M | 18 | LMX1B | c.1130G>A p.(Arg377His) | Het | VUS | Possibly causative |
| 23 | M | 49 | MYH9 | c.1730T>C p.(Val577Ala) | Het | VUS | Possibly causative |
| 24 | M | 24 | PAX2 | c.272C>T p.(Ala91Val) | Het | VUS | Possibly causative |
| 25 | F | 39 | TRPC6 | c.26C>A p.(Pro9His) | Het | VUS | Possibly causative |
| 26 | M | 29 | TRPC6 | c.1747A>G p.(Arg583Gly) | Het | VUS | Possibly causative |
ACMG/AMP American College of Medical Genetics and Genomics/Association for Molecular Pathology, Hem hemizygous, Het heterozygous, Hom homozygous, LP likely pathogenic, P pathogenic, VUS variant of unknown significance.