Table 2.
ADPKD mutations in PKD1 and PKD2 identified in the 36 samples of the validation cohort
| Sample | Gene | Duplicated region | cDNA change | Protein change | PKDB | # Patients | Classification | Ref counts | Variants counts |
|---|---|---|---|---|---|---|---|---|---|
| 03-106-P6 | PKD1 | Yes | c.1-?_8161+?del | p.(Met1fs) | Absent | 0 | Definitely pathogenic | – | – |
| 12-331-P1 | PKD1 | Yes | c.566C>G | p.(Ser189*) | Present | 1 | Definitely pathogenic | 188 | 62 |
| 12-382-P1 | PKD1 | Yes | c.736_737del | p.(Ser246fs) | Absent | 0 | Definitely pathogenic | 19 | 14 |
| 04-016-P6 | PKD1 | Yes | c.1831C>T | p.(Arg611Trp) | Present | 1 | Likely pathogenic | 25 | 13 |
| 12-235-P1 | PKD1 | Yes | c.2329C>T | p.(Gln777*) | Absent | 0 | Definitely pathogenic | 59 | 37 |
| 12-366-P1 | PKD1 | Yes | c.2478delC | p.(Ile827 fs) | Absent | 0 | Definitely pathogenic | 114 | 83 |
| 12-010-P1 | PKD1 | Yes | c.4888C>T | p.(Gln1630*) | Present | 1 | Definitely pathogenic | 136 | 114 |
| 02-010-P6 | PKD1 | Yes | c.6583_6589del7 | p.(Cys2195fs) | Present | 1 | Definitely pathogenic | 74 | 79 |
| 10-326-P3 | PKD1 | Yes | c.6778_6780delATT | p.(Ile2260del) | Present | 1 | Highly likely Pathogenic | 190 | 148 |
| 11-220-P2 | PKD1 | Yes | c.6221delA | p.(Asn2074fs) | Absent | 0 | Definitely Pathogenic | 123 | 113 |
| 11-247-P7 | PKD1 | Yes | c.6384C>A | p.(Asn2128Lys) | Absent | 0 | Highly likely pathogenic | 181 | 131 |
| 12-161-P1 | PKD1 | Yes | c.6586C>T | p.(Gln2196*) | Present | 1 | Definitely pathogenic | 86 | 50 |
| 11-517-P1 | PKD1 | Yes | c.6736C>T | p.(Gln2246*) | Present | 1 | Definitely pathogenic | 185 | 124 |
| 11-525-P2 | PKD1 | Yes | c.6827T>C | p.(Leu2276Pro) | Absent | 0 | Highly likely pathogenic | 280 | 245 |
| 10-388-P3 | PKD1 | Yes | c.8161+1G>C | p.(?) | Absent | 0 | Definitely pathogenic | 21 | 25 |
| 11-468-P1 | PKD1 | Yes | c.8251C>T | p.(Gln2751*) | Absent | 0 | Definitely Pathogenic | 92 | 92 |
| 12-363-P1 | PKD1 | Yes | c.8285delT | p.(Ile2762fs) | Absent | 0 | Definitely Pathogenic | 120 | 89 |
| 10-463-P3 | PKD1 | Yes | c.8311G>A | p.(Glu2771Lys) | Present | 18 | Highly likely pathogenic | 58 | 63 |
| 11-457-P2 | PKD1 | Yes | c.8858A>G | p.(Asn2953Ser) | Absent | 0 | Highly likely pathogenic | 236 | 191 |
| 11-287-P2 | PKD1 | Yes | c.9240_9241delAT | p.(Ala3082fs) | Present | 3 | Definitely pathogenic | 164 | 80 |
| 10-193-P3 | PKD1 | Yes | c.9412G>A | p.(Val3138Met) | Present | 2 | Likely Pathogenic | 208 | 188 |
| 11-595-P2 | PKD1 | Yes | c.9455_9456insC | p.(Arg3152fs) | Absent | 0 | Definitely pathogenic | 283 | 184 |
| 07-172-P5 | PKD1 | Yes | c.9889G>A | p.(Val3297Met) | Absent | 0 | Likely pathogenic | 130 | 114 |
| 09-403-P3 | PKD1 | Yes | c.10170+25_+45del19 | p.(Gln3390fs) | Present | 2 | Highly likely pathogenic | 96 | 26 |
| 10-182-P3 | PKD1 | – | c.11017-10C>A | p.(Arg3672fs) | Present | 7 | Highly likely pathogenic | 109 | 83 |
| 12-144-P1 | PKD1 | – | c.10847C>A | p.(Ser3616*) | Absent | 0 | Definitely Pathogenic | 224 | 177 |
| 10-353-P3 | PKD1 | – | c.11359_11360del | p.(Pro3788fs) | Absent | 0 | Definitely pathogenic | 292 | 203 |
| 11-256-P2 | PKD1 | – | c.11471G>T | p.(Gly3824Val) | Absent | 0 | Likely pathogenic | 85 | 63 |
| 11-168-P8 | PKD1 | – | c.12004-2A>G | p.(?) | Absent | 0 | Definitely pathogenic | 143 | 113 |
| 09-446-P3 | PKD1 | – | c.12031C>T | p.(Gln4011*) | Present | 4 | Definitely pathogenic | 106 | 85 |
| 11-133-P8 | PKD2 | – | c.224delC | p.(Pro75fs) | Absent | 0 | Definitely pathogenic | 41 | 25 |
| 11-008-P3 | PKD2 | – | c.637C>T | p.(Arg213*) | Absent | 0 | Definitely pathogenic | 198 | 172 |
| 11-170-P2 | PKD2 | – | c.965G>A | p.(Arg322Gln) | Present | 4 | Highly likely pathogenic | 396 | 330 |
| 12-149-P1 | PKD2 | – | c.2050_2053del4 | p.(Tyr684fs) | Present | 1 | Definitely pathogenic | 212 | 181 |
| 11-571-P2 | PKD2 | – | c.709-?_2907+?del | p.(Leu237_Val968del) | Absent | 0 | Definitely pathogenic | – | – |
| 09-393-P3 | – | – | – | – | – | – | – | – |
#Patients in previous studies, NM_001009944.2 for PKD1 and NM_000297.2 for PKD2