Table 3.
ADPKD mutations in PKD1 and PKD2 identified in the 12 samples of the discovery cohort
| Sample | Gene | Duplicated region | cDNA change | Protein change | PKDB | # Patients | Classification | Ref counts | Variants counts |
|---|---|---|---|---|---|---|---|---|---|
| 06-056 | PKD1 | Yes | c.348_352delTTTAA | p.(Asn116fs) | Present | 1 | Definitely pathogenic | 28 | 20 |
| 06-122 | PKD1 | Yes | c.7204C>T | p.(Arg2402*) | Present | 2 | Definitely pathogenic | 24 | 12 |
| 07-032 | PKD1 | Yes | c.8421_8422insC | p.(Ile2808fs) | Absent | 0 | Definitely pathogenic | 22 | 18 |
| 11-444 | PKD1 | Yes | c.8041C>T | p.(Arg2681Cys) | Absent | 0 | Highly likely pathogenic | 38 | 20 |
| 12-444 | PKD2 | – | c.1532_1533insAT | p.(Asp511fs) | Absent | 0 | Definitely pathogenic | 156 | 70 |
| PKD1 | – | c.10921C>T | p.(Arg3642Cys) | Absent | 0 | Highly likely pathogenic | 40 | 52 | |
| 12-505 | PKD1 | Yes | c.50174_5015delAG | p.(Arg1672fs) | Present | 28 | Definitely pathogenic | 118 | 88 |
| 13-199 | PKD1 | Yes | c.7039delC | p.(Arg2347fs) | Absent | 0 | Definitely pathogenic | 34 | 32 |
| 12-628 | PKD1 | Yes | c.2180T>C | p.(Leu727Pro) | Absent | 0 | Highly likely pathogenic | 20 | 8 |
| 08-258 | PKD1 | Yes | c.7925C>T | p.(Arg2639*) | Present | 5 | Definitely pathogenic | 28 | 14 |
| 10-484 | PKD1 | – | c.12010C>T | p.(Gln4004*) | Present | 4 | Definitely pathogenic | 26 | 38 |
| 13-102 | – | – | – | – | – | – | – | – | – |
| 07-335 | – | – | – | – | – | – | – | – | – |
# patients in previous studies, NM_001009944.2 for PKD1 and NM_000297.2 for PKD2.