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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
  1. Nb: number of patients carrying the sequence variant.