Table 1 Mutations
From: High Resolution Melt analysis for mutation screening in PKD1 and PKD2
DNA change | Protein change | Intron or exon | Fragment | Mutation type | Clinical significance | Reference |
|---|---|---|---|---|---|---|
PKD1 | ||||||
c.862C>T | p.Gln288X | Exon 5 | 5B | NONSENSE | Definitely pathogenic | Novel |
c.926_939del14 | p.Asp309fs | Exon 5 | 5B | FRAMESHIFT | Definitely pathogenic | Novel |
c.2073G>A | p.Ala692Thr | Exon 10 | 10 | SUBSTITUTION | Probably pathogenic | Novel |
c.3783_3784insC | p.Glu1261fs | Exon 15 | 15B | FRAMESHIFT | Definitely pathogenic | Novel |
c.5078C>A | p.Tyr1693X | Exon 15 | 15E | NONSENSE | Definitely pathogenic | Novel |
c.5610C>G | p.Asn1870Lys | Exon 15 | 15F | SUBSTITUTION | Probably pathogenic | Novel |
c.5923C>T | p.Gln1975X | Exon 15 | 15G | NONSENSE | Definitely pathogenic | Novel |
c.7008_7013delCCTTCA | p.Thr2337_Phe2338del | Exon 16 | 16 | DELETION | Probably pathogenic | Novel |
c.7108T>A | p.Cys2370Ser | Exon 17 | 17 | SUBSTITUTION | Probably pathogenic | [11] |
c.7155_7156insT | p.Tyr2386fs | Exon 17 | 17 | FRAMESHIFT | Definitely pathogenic | Novel |
c.7298_7300delTGC | p.del2433Leu | Exon 18 | 18 | DELETION | Probably pathogenic | [22] |
c.7210-5C>G | pThr2496fs | Intron 18 | 19 | SPLICE | Definitely pathogenic | Novel |
c.8124_8127delGCCC | p.Thr2710fs | Exon 22 | 22 | FRAMESHIFT | Definitely pathogenic | Novel |
c.9147_9148insG | p.Ala3050fs | Exon 25 | 25 | FRAMESHIFT | Definitely pathogenic | Novel |
c.9403C>T | p.Thr3135Met | Exon 27 | 27 | SUBSTITUTION | Probably pathogenic | Novel |
c.9203_9205delGTG | p.del3138Val | Exon 27 | 27 | DELETION | Probably pathogenic | [23] |
c.9859_9861delCTC | p.del3287Leu | Exon 29 | 29 | DELETION | Probably pathogenic | [34] |
c.10086C>T | p.Gln3363X | Exon 31 | 31 | NONSENSE | Definitely pathogenic | Novel |
c.10167+24del19 | p.Gln3389fs | Intron 31 | 31 | SPLICE | Probably pathogenic | Novel |
c.10932delC | p.Arg3646fs | Exon 37 | 37 | FRAMESHIFT | Definitely pathogenic | Novel |
c.10945_10952del8 | p.3649fs | Exon 37 | 37 | FRAMESHIFT | Definitely pathogenic | Novel |
c.11249G>A | p.Arg3750Gln | Exon 39 | 39 | SUBSTITUTION | Probably pathogenic | [32] |
c.11512C>T | p.Gln3838X | Exon 41 | 41 | NONSENSE | Definitely pathogenic | [35] |
c.11972delC | p.Ala3991fs | Exon 43 | 43 | FRAMESHIFT | Definitely pathogenic | Novel |
c.12235+2T>C | p.Leu4046fs | Exon 44 | 44 | SPLICE | Definitely pathogenic | [20] |
PKD2 | ||||||
c.640G>T | p.Glu214X | Exon 2 | 2 | NONSENSE | Definitely pathogenic | Novel |
c.974G>A | p.Arg325Gln | Exon 4 | 4 | SUBSTITUTION | Probably pathogenic | [11] |
c.2533C>T | p.Arg845X | Exon 14 | 14 | NONSENSE | Definitely pathogenic | [36] |