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Table 2 Diagram of the identified genetic variations after enzymatic digestion with CEL I and ENDO-1 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 wt
Haplotype 2 Polymorphism wt wt IVS2 - 76_80del5 wt IVS4
-16A>G
wt wt
Haplotype 3   -12G>A wt wt IVS4
+68A>G
wt wt wt
   -10 C>T wt wt wt wt wt wt
  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 wt
   wt wt wt wt c.718_9 dellAA wt wt
   wt wt D165H wt wt wt wt