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Table 4 Diagram of the genetic variations identified after HRM and their location.

From: Genetic screening of Fabry patients with EcoTILLING and HRM technology

   Region 1 Region 2 Region 3 Region 4 Region 5 Region 6 Region 7
   Exon 1 Exon 2 Exon 3 Exon 4 Exon 5 Exon 6 Exon 7
Haplotype 1   -10 C>T wt IVS2 - 76_80del5 wt IVS4 -16A>G wt IVS6 -22C>T
Haplotype 2 Polymorphism wt wt IVS2 -76_80del5 wt IVS4 -16A>G wt IVS6 -22C>T
Haplotype 3   -12G>A wt wt IVS4 +68A>G wt wt IVS6 -22C>T
   wt wt wt wt wt wt IVS6 -22C>T
  Mutations -30G>A wt wt wt wt wt wt
   wt wt C172Y wt wt wt wt
   wt wt wt wt wt D313Y wt
   wt wt wt wt wt wt G395A
   wt wt wt wt c.718_9 dellAA wt wt
   wt wt D165H wt wt wt wt