Table 3 Indeterminate variants
From: High Resolution Melt analysis for mutation screening in PKD1 and PKD2
DNA change | Protein change | Intron or exon | Fragment | Mutation type | Reference | Nb |
|---|---|---|---|---|---|---|
PKD1 | ||||||
c.854C>T | p.Ala285Val | Exon 5 | 5B | SUBSTITUTION | Novel | 1 |
c.4439A>G | p.Glu1480Gly | Exon 15 | 15C | SUBSTITUTION | Novel | 1 |
c.5848G>A | p.Val1950Met | Exon 15 | 15G | SUBSTITUTION | Novel | 1 |
c.8110C>T | p.Ala2704Val | Exon 22 | 22 | SUBSTITUTION | Novel | 1 |
c.8803C>T | p.Ser2935Phe | Exon 24 | 24 | SUBSTITUTION | Novel | 1 |
c.9730G>A | p.Arg3244His | Exon 29 | 29 | SUBSTITUTION | Novel | 1 |
c.10043G>A | p.Arg3348Gln | Exon 30 | 30 | SUBSTITUTION | Novel | 1 |
c.10876A>C | p.His3559Pro | Exon 36 | 36 | SUBSTITUTION | Novel | 2 |
c.11108G>C | p.Ser3703Thr | Exon 38 | 38 | SUBSTITUTION | Novel | 4 |
c.11344_11345insAAG | p.Asp3781_Val 3782insGlu | Exon 40 | 40 | INSERTION | Novel | 1 |
c.11698C>T | p.Leu3897Phe | Exon 42 | 42 | SUBSTITUTION | Novel | 1 |
c.12826C>T | p.Arg4276Trp | Exon 46 | 46B | SUBSTITUTION | [54] | 1 |