Table 5.
Probands with more than one variant.
| ID | Main variant | Additional variant | Phase | Affected relative | Age at diagnosis |
|---|---|---|---|---|---|
| 15686 | PKD1: c.2098-2_2109del | PKD1: p.R3247C | uk | None | 20 |
| 16051 | PKD1: p.E3872* | PKD1: p.S2757C | uk | Daughter | 42 |
| 16533 | PKD1: p.D1079Afs*25 | PKD1: p.T2250M | dn | None | 3 (EO) |
| 16813 | PKD1: p.Q493* | PKD1: p. R944C | uk | None | uk |
| 17016 | PKD1: p.Y1599* | PKD1: p.S2000C | trans | Mother | 3 (EO) |
| 17045 | PKD1: p.R3277C | PKD1: p.R3277C | trans | None | 22 |
| 17469 | PKD1: p.A3958P | PKD1: p.P2674S | trans | Mother | 10 (EO) |
| 17474 | PKD1: p.N2167D | PKD1: p.A561V | dn | None | Pn (VEO) |
| 18206 | PKD1: p.L1479Wfs*55 | PKD1: p.I3167F | trans | Father | Pn (VEO) |
| 18287 | PKD2: p.C331Y | PKD1: p.S123T; | trans | Mother | Pn (VEO) |
| PKD2: p.R872G | |||||
| 18477 | PKD1: p.R459P | PKD1: p.G1185D | trans | Father | Pn (VEO) |
The cases who presented the variants in cis are not reported. VEO, Very Early Onset; EO, Early Onset; uk: unknown; dn, de novo; Pn, Prenatal. *stop codon (Ter).