b-Globin- Mutation MED (Mediterranean)
-101 [C>T] mutant c.-151C>T
-87 [C>G] mutant c.-137C>G
-30 [T>A] mutant c.-80T>A
codon 5 [-CT] mutant c.17_18delCT
codon 6 [G>A] HbC mutant c.19G>A
codon 6 [A>T] HbS mutant c.20A>T
codon 6 [-A] mutant c.20delA
codon 8 [-AA] mutant c.25_26delAA
codon 8/9 [+G] mutant c.27_28insG
codon 15 [TGG>TGA] mutant c.48G>A
codon 27 [G>T] Knossos mutant c.82G>T
IVS 1.1 [G>A] mutant c.92+1G>A
IVS 1.5 [G>C] mutant c.92+5G>C
IVS 1.6 [T>C] mutant c.92+6T>C
IVS 1.110 [G>A] mutant c.93-21G>A
IVS 1.116 [T>G] mutant c.93-15T>G
IVS 1.130 [G>C] mutant c.93-1G>C
codon 39 [C>T] mutant c.118C>T
codon 44 [-C] mutant c.135delC
IVS 2.1 [G>A] mutant c.315+1G>A
IVS 2.745 [C>G] mutant c.316-106C>G
IVS 2.848 [C>A] mutant c.316-3C>A
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b-Globin- Mutation IME (India & Middle East)
cap+1 [A>C] mutant c.-50A>C
codon 5 [-CT] mutant c.17_18delCT
codon 6 [A>T] HbS mutant c.20A>T
codon 8 [-AA] mutant c.25_26delAA
codon 8/9 [+G] mutant c.27_28insG
codon 15 [TGG>TAG] mutant c.47G>A
codon 16 [-C] mutant c.51delC
codon 22 [7bp del] mutant c.68_74delAAGTTGG
codon 30 [G>C] mutant c.92G>C
IVS 1.1 [G>A] mutant c.92+1G>A
IVS 1.1 [G>T] mutant c.92+1G>T
IVS 1.5 [G>C] mutant c.92+5G>C
IVS 1.6 [T>C] mutant c.92+6T>C
IVS 1.110 [G>A] mutant c.93-21G>A
IVS 1-25 [25bp del] mutant c.93-21_96del
codon 36/37 [-T] mutant c.112delT
codon 39 [C>T] mutant c.118C>T
codon 41/42 [-TTCT] mutant c.126_129delCTTT
codon 44 [-C] mutant c.135delC
IVS 2.1 [G>A] mutant c.315+1G>A
IVS 2.745 [C>G] mutant c.316-106C>G
619bp del mutant
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b-Globin- Mutation SEA (Southeast Asia)
-31 [A>G] mutant c.-81A>G
-29 [A>G] mutant c.-79A>G
-28 [A>G] mutant c.-78A>G
cap+1 [A>C] mutant c.-50A>C
initiation cd [ATG>AGG] mutant c.2T>G
codon 8/9 [+G] mutant c.27_28insG
codon 15 [TGG>TAG] mutant c.47G>A
codon 17 [A>T] mutant c.52A>T
codon 19 [A>G] Malay mutant c.59A>G
codon 26 [G>A] HbE mutant c.79G>A
codon 27/28 [+C] mutant c.84_85insC
IVS 1.1 [G>T] mutant c.92+1G>T
IVS 1.5 [G>C] mutant c.92+5G>C
codon 41/42 [-TTCT] mutant c.126_129delCTTT
codon 43 [G>T] mutant c.130G>T
codon 71/72 [+A] mutant c.216_217insA
codon 89/90 [-GT] mutant c.269_270delGT
codon 90 [G>T] mutant c.271G>T
codon 95 [+A] mutant c.287_288insA
IVS 2.1 [G>A] mutant c.315+1G>A
IVS 2.654 [C>T] mutant c.316-197C>T
codon 121 [G>T] mutant c.364G>T
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