Table 2. Disease causing variants identified in PKD1 and PKD2 in the cohort.
| Patient | Gene | Exona | Protein change | Coding change (HGVSc) | Genomic Coordinateb |
|---|---|---|---|---|---|
| 537 | PKD1 | 18 | p.(Trp2405*) | NM_001009944.2:c.7215G>A | chr16:g.2156673 |
| 538 | PKD1 | 15 | p.(Gln1908*) | NM_001009944.2:c.5722C>T | chr16:g.2159446 |
| 626 | PKD2 | 3 | N/A | NM_000297.3:c.(709+1_710–1)_(843+1_844–1)del | chr4:g.88952071_88957532 |
| 555 | PKD1 | 43 | p.(Val3916fs) | NM_001009944.2:c.11747_11754delTGGCCGAG | chr16:g.2141133 |
| 539 | PKD1 | 21 | p.(Arg2643Cys) | NM_001009944.2:c.7927C>T | chr16:g.2155412 |
| 546 | PKD1 | 23 | p.(Val2768fs) | NM_001009944.2:c.8302_8305delGTGC | chr16:g.2153752 |
| 553 | PKD1 | IVS7 | NM_001009944.2:c.1606+1G>C | chr16:g.2166833 | |
| 562 | PKD2 | 6 | p.(Trp507*) | NM_000297.3:c.1520G>A | chr4:g.88967994 |
| 570 | PKD1 | 46 | p.(Gln4247*) | NM_001009944.2:c.12739C>T | chr16:g.2139901 |
| 579 | PKD1 | 36 | p.(Pro3582fs) | NM_001009944.2:c.10745delC | chr16:g.2143887 |
| 585 | PKD1 | 24 | p.(Gln2969*) | NM_001009944.2:c.8905C>T | chr16:g.2152858 |
| 602 | PKD2 | 13 | p.(Arg803*) | NM_000297.3:c.2407C>T | chr4:g.88989098 |
| 619 | PKD1 | 7 | p.(Cys508*) | NM_001009944.2:c.1524C>A | chr16:g.2166916 |
| 601 | PKD1 | 11 | p.(Ser851fs) | NM_001009944.2:c.2552_2553delCT | chr16:g.2164470 |
| 617 | PKD2 | 7 | p.(Gln537*) | NM_000297.3:c.1609C>T | chr4:g.88973203 |
| 594 | PKD1 | IVS20 | NM_001009944.2:c.7863+1G>T | chr16:g.2155865 | |
| 618 | PKD2 | IVS10 | NM_000297.3:c.2118+1G>C | chr4:g.88983157 | |
| 635 | PKD1 | 5 | p.(Pro252fs) | NM_001009944.2:c.756delG | chr16:g.2168236 |
| 503 | PKD2 | IVS4 | NM_000297.3:c.1094+1G>A | chr4:g.88959654 | |
| 504 | PKD2 | 3 | p.(Thr272fs) | NM_000297.3:c.815delCT | chr4:g.88957476 |
| 505 | PKD1 | 15 | p.(Arg1672fs) | NM_001009944.2:c.5014_5015delAG | chr16:g.2160152 |
| 506 | PKD1 | 31–34 | N/A | NM_001009944.2:c.(10050+1_10051–1)_(10499+1_10500–1)del | chr16:g.2146901_2149100 |
| 370 | PKD1 | 36 | p.(Ala3587fs) | NM_001009944.2:c.10759delG | chr16:g.2143873 |
| 627 | PKD1 | 15 | p.(Cys2178*) | NM_001009944.2:c.6534C>A | chr16:g.2158634 |
Abbreviation: HGVSc, Human Genome Variation Society nomenclature.
All variants listed have also been identified by Sanger sequencing or MLPA.
a
Reference used: NG_008617.1 for PKD1 variants and NG_008604.1 for PKD2 variants.
b
Reference genome used was the 1000 Genomes Phase 2 reference genome, which comprises the GRCh37 reference genome, including decoy sequences and the human herpesvirus 4 type 1.