Subject   Country of Origin   Mutations a
DNA   Protein   State   Father/Mother   SNP Frequency b
S1c  Italy  c.235C>T  p.Arg79∗  homo  F&M hetc  Ø
S2c  Italy  c.235C>T  p.Arg79∗  homo  F&M het  Ø
S3  Turkey  c.163−1G>A  Ex2 skipping;p.Val55_Lys120del  homo  NA  Ø
S4  Morocco  Ex3 deletion  Ex3 deletion;p.Glu121Valfs∗6  homo  NA  NA
S5  Oman  c.353T>C  p.Phe118Ser  homo  F&M het  Ø
S6  Italy  c.235C>T  p.Arg79∗  het  M het  Ø
c.370_372del  p.Glu124del  het  F het  Ø