Table 2 Evaluation of the pathogenic potential of PKD genes missense variants
cDNA change | Exon | Amino acid change | Co-occurence | SIFT | PolyPhen-2 | Mutation Taster | Family No. | Family history | Segregation | Known/Novel | Classification |
|---|---|---|---|---|---|---|---|---|---|---|---|
PKD1 | |||||||||||
 c.1385G>T | 6 | p.Arg462Met |  | NT | PRD | D | 77 | Yes | Yes | Novel | LP |
 c.2039A > T | 10 | p.Tyr680Phe | p.Tyr1879* | NT | POD | P | 20 | Yes | Yes | Known | LB |
 c.2180 T>C | 11 | p.Leu727Pro |  | NT | PRD | D | 69 | Yes | Yes | Known | LP |
 c.2897G>C | 12 | p.Arg966Pro |  | NT | PRD | D | 73 | Yes | Yes | Novel | LP |
 c.3548C > G | 15 | p.Ser1183Trp | p.Gln1653* | NT | B | P | 16 | Yes | Yes | Novel | LB |
 c.3613G>C | 15 | p.Asp1205His |  | NT | POD | P | 64 | Yes | Yes | Novel | LP |
76 | No | NA | |||||||||
 c.3868C > G | 15 | p.Leu1290Val | p.Gln1653* | T | B | P | 16 | Yes | Yes | Novel | LB |
 c.3931G>A | 15 | p.Ala1311Thr |  | NT | B | P | 80 | No | No | Known | LB |
 c.4273C > T | 15 | p.Arg1425Cys | p.Gln3838* | NT | B | P | 15 | Yes | Yes | Novel | LB |
 c.5600A > G | 15 | p.Asn1867Ser | p.Arg400* | NT | PRD | D | 17 | Yes | Yes | Novel | USV |
 c.5957C>T | 15 | p.Thr1986Met |  | NT | PRD | P | 87 | Yes | NA | Novel | LB |
 c.6658C>T | 15 | p.Arg2220Trp |  | NT | PRD | D | 85 | Yes | Yes | Known | LP |
 c.6704C>T | 15 | p.Ser2235Leu |  | NT | PRD | D | 70 | Yes | Yes | Novel | LP |
 c.6827 T>C | 15 | p.Leu2276Pro |  | NT | PRD | D | 61 | Yes | Yes | Known | LP |
 c.6878C > T | 15 | p.Pro2293Leu | p.Pro36Leufs*78 | NT | POD | P | 12 | Yes | NA | Known | LB |
 c.7099 T>C | 17 | p.Ser2367Pro |  | NT | PRD | D | 56 | Yes | NA | Novel | LP |
 c.7144A>C | 17 | p.Ser2382Arg |  | NT | PRD | D | 67 | Yes | Yes | Novel | LP |
 c.7241C > T | 18 | p.Thr2414Met | c.11269 + 1G > A | NT | PRD | D | 10 | Yes | Yes | Known | LP |
 c.7589G>A | 19 | p.Gly2530Asp |  | NT | PRD | D | 59 | No | NA | Known | LP |
 c.8158A>C | 22 | p.Thr2720Pro |  | NT | PRD | D | 86 | NA | NA | Novel | LP |
 c.8311G>A | 23 | p.Glu2771Lys |  | NT | PRD | D | 83 | Yes | NA | Known | LP |
 c.8744A > G | 23 | p.Asn2915Ser | p.Ser4190Serfs*21 | T | B | D | 28 | Yes | Yes | Novel | USV |
 c.8750C > T | 23 | p.Ala2917Val | p.Gln3838* | T | POD | P | 15 | Yes | Yes | Known | LB |
p.Gln1653* | 16 | Yes | Yes | ||||||||
 c.10937 T>G | 37 | p.Val3646Gly |  | T | PRD | D | 68 | Yes | Yes | Novel | LP |
 c.10951G>A | 37 | p.Gly3651Ser |  | T | PRD | D | 79 | Yes | NA | Known | LP |
 c.11156G>T | 38 | p.Arg3719Leu |  | NT | PRD | D | 82 | Yes | Yes | Novel | LP |
 c.11248C>G | 39 | p.Arg3750Gly |  | NT | PRD | D | 74 | No | Yes | Known | LP |
 c.11257C>T | 39 | p.Arg3753Trp |  | NT | PRD | D | 84 | Yes | Yes | Known | LP |
 c.11351G > T | 40 | p.Gly3784Val |  | T | B | P | 75 | Yes | Yes | Novel | LB |
 c.11453G>A | 41 | p.Gly3818Asp |  | NT | PRD | D | 81 | Yes | Yes | Known | LP |
 c.11945A>C | 43 | p.Gln3982Pro |  | NT | PRD | P | 78 | Yes | Yes | Novel | LP |
 c.12671C>A | 46 | p.Thr4224Asn |  | NT | POD | P | 66 | Yes | NA | Novel | USV |
PKD2 | |||||||||||
 c.965G>A | 4 | p.Arg322Gln |  | NT | PRD | D | 64 | Yes | NA | Known | LP |
GANAB | |||||||||||
 c.518G>A | 5 | p.Arg173Gln |  | T | PRD | D | 58 | Yes | NA | Novel | B |
86 | NA | NA | |||||||||
 c.991C>T | 10 | p.Arg331Cys |  | NT | PRD | D | 61 | Yes | No | Novel | LB |
 c.1078A>G | 11 | p.Met360Val |  | NT | B | D | 62 | Yes | NA | Novel | USV |
 c.367C>G | 4 | p.Pro123Ala |  | T | POD | D | 69 | Yes | Yes | Novel | USV |
 c.2292A>G | 19 | p.Ile764Met |  | T | B | D | Yes | Novel | USV | ||