Variant classification
Individual variants Grouped variants by globin phenotype
Globin phenotype
α0 β0 β+ δ0 δ+
Variant (IthaID)
1, HBB:c.-240G>A (-190 (G>A)) 2, HBB:c.-152C>A (-102 (C>A)) 3, HBB:c.-151C>T (-101 (C>T)) 4, HBB:c.-151C>G (-101 (C>G)) 5, HBB:c.-143C>G (-93 C>G) 6, HBB:c.-142C>T (-92 (C>T)) 7, HBB:c.-140C>T (-90 (C>T)) 8, HBB:c.-138C>T (-88 (C>T)) 9, HBB:c.-138C>A (-88 (C>A)) 10, HBB:c.-137C>G (-87 C>G) 11, HBB:c.-137C>T (-87 (C>T)) 12, HBB:c.-137C>A (-87 (C>A)) 13, HBB:c.-136C>G (-86 C>G) 14, HBB:c.-136C>A (-86 (C>A)) 15, HBB:c.-123A>T (-73 (A>T)) 16, HBB:c.-106G>C (-56 G>C) 17, HBB:c.-100G>A (-50 G>A) 18, HBB:c.-82C>A (-32 (C>A)) 19, HBB:c.-82C>T (-32 (C>T)) 20, HBB:c.-81A>G (-31 (A>G)) 21, HBB:c.-81A>C (-31 (A>C)) 22, HBB:c.-80T>A (-30 (T>A)) 23, HBB:c.-80T>C (-30 (T>C)) 24, HBB:c.-79_-78delAA (-29 to -26 (-AA)) 25, HBB:c.-79A>G (-29 (A>G)) 26, HBB:c.-79A>C (-29 (A>C)) 28, HBB:c.-78A>C (-28 (A>C)) 29, HBB:c.-78A>G (-28 (A>G)) 30, HBB:c.-77A>T (-27 (A>T)) 31, HBB:c.-77_-76delAA (-27 (-AA)) 32, HBB:c.-75G>C (-25 (G>C)) 33, NG_000007.3:g.70573_70617dup (-22 to +23 (+45 bp duplication)) 34, HBB:c.-50A>C (CAP +1 (A>C)) 35, HBB:c.-43C>T (CAP +8 (C>T)) 36, HBB:c.-41delT (CAP +10 (-T)) 37, HBB:c.[-31C>T;316-106C>G] (CAP +20 C>T; IVS II-745 C>G) 38, HBB:c.-29G>A (CAP +22 (G>A)) 39, HBB:c.-18C>G (CAP +33 (C>G)) 40, HBB:c.-10_-7delAACA (CAP +41 to +44 (-AACA)) 41, HBB:c.-6G>C (Hb Odisha) 42, HBB:c.1A>G (Init CD ATG>GTG) 43, HBB:c.1A>C (Init CD ATG>CTG) 44, HBB:c.2T>C (Init CD ATG>ACG) 45, HBB:c.2T>G (Init CD ATG>AGG) 46, HBB:c.2T>A (Init CD ATG>AAG) 47, HBB:c.3G>C (Init CD ATG>ATC) 48, HBB:c.3G>A (Init CD ATG>ATA) 49, HBB:c.3G>T (Init CD ATG>ATT) 50, HBB:c.4delG (CD 1 (-G)) 51, HBB:c.7_15delinsCCTGAGGTGAAGTCTGCCTGAGGAGAAGTCT (CD 2-4 (-9 bp, +31 bp)) 52, HBB:c.11dupT (CD 3 (+T)) 53, HBB:c.[9dupT; 17delC] (Hb Antalya) 54, HBB:c.17_18delCT (CD 5 -CT) 55, HBB:c.[15T>A;16C>T;19G>T] (CD 4/5/6: CD 4 (ACT>ACA), CD 5 (CCT>TCT), CD 6 (GAG>TAG)) 56, HBB:c.19G>T (CD 6 (GAG>TAG)) 57, HBB:c.20delA (CD 6 -A) 58, HBB:c.19delG (CD 6 (-G)) 59, HBB:c.21_33delGGAGAAGTCTGCC (CD 6-10 (-13 bp)) 60, HBB:c.22G>T (CD 7 GAG>TAG) 61, HBB:c.25_26delAA (CD 8 (-AA)) 62, HBB:c.27dupG (CD 8/9 (+G)) 63, HBB:c.28_29insTA (CD 9 (+TA)) 64, HBB:c.30dupT (Hb Gaziantep) 65, HBB:c.33C>A (CD 10 GCC>GCA [Ala>Ala]) 66, HBB:c.33delC (CD 10 (-C)) 67, HBB:c.36delT (CD 11 (-T)) 68, HBB:c.44dupT (CD 14 (+T)) 69, HBB:c.45dupG (CD 14/15 (+G)) 70, HBB:c.46delT (CD 15 (-T)) 71, HBB:c.50dupG (CD 15/16 (+G)) 72, HBB:c.47G>A (CD 15 TGG>TAG) 73, HBB:c.48G>A (CD 15 TGG>TGA) 74, HBB:c.50delG (CD 15/16 (-G)) 75, HBB:c.51delC (CD 16 GGC>GG-) 76, HBB:c.51C>T (CD 16 GGC>GGT [Gly>Gly]) 77, HBB:c.52A>T (CD 17 AAG>TAG [Lys>STOP]) 78, HBB:c.53dup (CD 17 (+A)) 79, HBB:c.59A>G (Hb Malay) 80, HBB:c.64_67del (CD 20-22 (GTGGATGAA>GTGAA)) 81, HBB:c.64dupG (CD 20/21 (+G)) 83, HBB:c.67G>T (CD 22 (GAA>TAA)) 84, HBB:c.68_74delAAGTTGG (CD 22-24 ( -7 bp): (-AAGTTGG)) 85, HBB:c.74delinsCAC (CD 24 (-G, +CAC)) 86, HBB:c.75T>A (CD 24 GGT>GGA [Gly>Gly]) 87, HBB:c.78dupT (CD 25/26 (+T)) 88, HBB:c.79G>A (HbE) 89, HBB:c.79G>T (CD 26 (GAG>TAG)) 90, HBB:c.79_80insT (CD 26 (+T)) 91, HBB:c.82G>T (Hb Knossos) 92, HBB:c.85dupC (CD 27/28 (+C)) 93, HBB:c.85delC (CD 28 (-C)) 94, HBB:c.86T>G (Hb Chesterfield) 95, HBB:c.89delG (CD 28/29 (-G)) 96, HBB:c.90C>T (CD 29 (C>T) or IVS I (-3) GGC>GGT (Gly>Gly)) 97, HBB:c.91A>G (CD 30 (A>G) or IVS I (-2) AGG>GGG (Arg>Gly)) 98, HBB:c.91A>C (CD 30 (A>C) or IVS I (-2) AGG>CGG [Arg>Arg]) 99, HBB:c.92G>A (CD 30 (G>A) or IVS I (-1) AGG>AAG (Arg>Lys)) 100, HBB:c.92G>C (Hb Monroe) 101, HBB:c.92+1G>A (IVS I-1 G>A) 102, HBB:c.92+1G>T (IVS I-1 (G>T)) 103, HBB:c.92+1G>C (IVS I-1 (G>C)) 104, HBB:c.92+2T>G (IVS I-2 (T>G)) 105, HBB:c.92+2T>C (IVS I-2 (T>C)) 106, HBB:c.92+2T>A (IVS I-2 (T>A)) 107, HBB:c.92+5G>C (IVS I-5 (G>C)) 108, HBB:c.92+5G>T (IVS I-5 (G>T)) 109, HBB:c.92+5G>A (IVS I-5 (G>A)) 110, NG_000007.3:g.57237_64443del7207; HBB:c.92+5G>A (IVS I-5 (G>A) + Corfu deletion) 111, HBB:c.92+6T>C (IVS I-6 (T>C)) 112, HBB:c.92+7A>T (IVS I-7 A>T) 113, HBB:c.93-21G>A (IVS I-110 G>A) 114, HBB:c.93-15T>G (IVS I-116 (T>G)) 115, HBB:c.93-3T>G (IVS I-128 (T>G)) 116, HBB:c.93-2A>C (IVS I-129 (A>C)) 117, HBB:c.93-2A>G (IVS I-129 (A>G)) 118, HBB:c.93-1G>C (IVS I-130 G>C) 119, HBB:c.93-1G>A (IVS I-130 (G>A)) 120, HBB:c.93G>C (Hb Tacoma II) 121, HBB:c.93-17_93-1delTATTTTCCCACCCTTAG (IVS I [3' end] (-17 bp)) 124, NG_000007.3:g.70807_70828dup (IVS I [3' end] (+22bp)) 125, HBB:c.93_94insCGG (CD 30/31 +CGG [+Arg]) 126, HBB:c.94delC (CD 31 (-C)) 127, HBB:c.[98T>A; 295G>A] (Hb Medicine Lake) 128, HBB:c.110del (CD 36 CCT>C-T) 129, HBB:c.102_104del (Hb Korea) 130, HBB:c.102_103delG (CD 33-34 (-G)) 131, HBB:c.101_106delTGGTCT (Hb Dresden) 132, HBB:c.107A>G (CD 35 TAC>TGC [Tyr>Cys]) 133, HBB:c.108C>A (CD 35 TAC>TAA) 134, HBB:c.112delT (CD 36/37 (-T)) 135, HBB:c.111_118delTTGGACCC (CD 36-39 (-8 bp)) 136, HBB:c.114delG (CD 37 (-G)) 137, HBB:c.114G>A (CD 37 (TGG>TGA)) 138, HBB:c.113G>A (CD 37 (TGG>TAG)) 139, HBB:c.114_120del (CD 37-39 (-7 bp): (-GACCCAG)) 140, HBB:c.118delC (CD 38/39 (-C)) 141, HBB:c.117_118delCC (CD 38/39 (-CC)) 142, HBB:c.118C>T (CD 39 CAG>TAG [Gln>STOP]) 143, HBB:c.123delG (CD 40 (-G)) 144, HBB:c.123_208dup (CD 40 (+86 bp)) 145, HBB:c.125dupT (CD 40/41 (+T)) 146, HBB:c.126delC (CD 41 (-C)) 147, HBB:c.126_129delCTTT (CD 41/42 (-CTTT)) 148, HBB:c.129dupT (CD 42/43 (+T)) 149, HBB:c.130dupG (CD 42/43 (+G)) 150, HBB:c.130G>T (CD 43 (GAG>TAG)) 151, HBB:c.135delC (CD 44 -C) 152, HBB:c.138delT (CD 45 (-T)) 153, HBB:c.138dupT (CD 45 (+T)) 154, HBB:c.138_139insA (CD 45/46 (+A)) 155, HBB:c.143dup (CD 47 (+A)) 156, HBB:c.143_146dupATCT (CD 47/48 (+ATCT)) 157, HBB:c.150delC (CD 49 (-C)) 158, HBB:c.153delT (CD 50 (-T)) 159, HBB:c.155delC (CD 51 (-C)) 160, HBB:c.162delT (CD 53 (-T)) 161, HBB:c.163dupG (CD 53/54 (+G)) 162, HBB:c.165delT (CD 54 -T) 163, HBB:c.166dupA (CD 54/55 (+A)) 164, HBB:c.165_177delTATGGGCAACCCT (CD 54-58 (-13bp)) 165, HBB:c.166delA (CD 55 (-A)) 166, HBB:c.170_183dup (CD 56-60 (+14 bp)) 167, HBB:c.176dupC (CD 58 (+C)) 168, HBB:c.179delA (CD 59 -A) 169, HBB:c.178A>T (CD 59 (AAG>TAG)) 170, HBB:c.182T>A (Hb Cagliari) 171, HBB:c.189_195delTCATGGC (CD 62-64 (-7bp)) 172, HBB:c.184A>T (CD 61 (AAG>TAG)) 173, HBB:c.194delG (CD 64 (-G)) 174, HBB:c.199A>T (CD 66 AAA>TAA [Lys>STOP]) 175, HBB:c.203_204delGT (CD 67 (-TG)) 176, HBB:c.216dupT (CD 71 (+T)) 177, HBB:c.217dupA (CD 71/72 (+A)) 178, HBB: c.217_221delAGTGAinsT (CD 72-73 (-AGTGA, +T)) 179, HBB:c.226delC (CD 75 (-C)) 180, HBB:c.229_230delGC (CD 76 GCT>--T (-GC)) 181, HBB:c.230delC (CD 76 (-C)) 182, HBB:c.235delC (CD 78 CTG>-TG) 183, HBB:c.244delC (CD 80/81 (-C)) 184, HBB:c.244_265del22 (CD 81-87 (-22 bp)) 185, HBB:c.251delG (CD 82/83 (-G)) 186, HBB:c.253_260del (CD 84-86 (-8 bp): (-CACCTTTG)) 187, HBB:c.255dupC (CD 84/85 (+C)) 188, HBB:c.258dupT (CD 84-86 (+T)) 189, HBB:c.266dupT (CD 88 (+T)) 190, HBB:c.266_267del (CD 88 (-TG)) 191, HBB:c.270_271del (CD 89/90 (AGTGAG>AGAG)) 192, HBB:c.271G>T (CD 90 GAG>TAG) 193, HBB:c.275del (Hb Morgantown) 194, HBB:c.275dupT (CD 91 (+T)) 195, HBB:c.282_283dupTG (Hb Agnana) 196, HBB:c.287dupA (CD 95 (+A)) 198, HBB:c.301_302delCCinsTCTGAGAACTT (CD 100 (-CC,+TCTGAGAACTT) >158aa) 199, HBB:c.315+1delG (IVS II-1 (-G)) 200, HBB:c.315+1G>A (IVS II-1 G>A) 201, HBB:c.315+1G>C (IVS II-1 G>C) 202, HBB:c.315+1G>T (IVS II-1 G>T) 203, HBB:c.315+2T>C (IVS II-2 T>C) 204, HBB:c.315+2T>A (IVS II-2 (T>A)) 205, HBB:c.315+2del (IVS II-2 (-T)) 206, HBB:c.315+2_315+3delinsACGTTCTCTGA (IVS II-2/3 (-2 bp, +11 bp)) 207, NG_000007.3:g.71043_71044delAG (IVS II 4/5 -AG) 208, HBB:c.315+5G>C (IVS II-5 (G>C)) 209, HBB:c.[316-300_327delinsCAGGTGCCATCTGTCACCCTTTTCTTTG;316-316_316-315insAATATATTTTTAATATACTTTTT] (Hb Jambol) 210, HBB:c.316-238C>T (IVS II-613 (C>T)) 211, HBB:c.316-197C>T (IVS II-654 C>T) 212, HBB:c.316-146T>G (IVS II-705 (T>G)) 213, HBB:c.316-125A>G (IVS II-726 A>G) 214, HBB:c.316-106C>G (IVS II-745 C>G) 215, HBB:c.316-90A>G (IVS II-761 A>G) 216, HBB:c.316-36C>T (IVS II-815 (C>T)) 217, HBB:c.316-14T>G (IVS II-837 (T>G)) 218, HBB:c.316-8T>G (IVS II-843 (T>G)) 219, HBB:c.316-7C>A (IVS II-844 (C>A)) 220, HBB:c.316-7C>G (IVS II-844 (C>G)) 221, HBB:c.316-3C>A (IVS II-848 (C>A)) 222, HBB:c.316-3C>G (IVS II-848 (C>G)) 223, HBB:c.316-2A>G (IVS II-849 (A>G)) 224, HBB:c.316-2A>C (IVS II-849 (A>C)) 225, HBB:c.316-1G>C (IVS II-850 G>C) 226, HBB:c.316-1G>A (IVS II-850 (G>A)) 227, HBB:c.316-1G>T (IVS II-850 (G>T)) 228, HBB:c.316-1delG (IVS II-850 (-G)) 229, HBB:c.319C>G (Hb L'Aquila) 230, HBB:c.320T>G (Hb Terre Haute) 231, HBB:c.323dupG (CD 107 (+G)) 232, HBB:c.326_337delACGTGCTGGTCT (CD 108-112 (-12 bp) Asn-Val-Leu-Val-Cys to Ser) 233, HBB:c.328delG (Hb Manhattan) 234, HBB:c.332T>C (Hb Showa-Yakushiji) 235, HBB:c.339T>A (CD 112 (TGT>TGA)) 236, HBB:c.340delG (CD 113 (-G) >156aa) 237, HBB:c.344T>C (Hb Durham-N.C.) 238, HBB:c.343_344delinsG (Hb Geneva) 239, HBB:c.347C>A (Hb Hradec Kralove (HK)) 240, HBB:c.349_350insTGAT (CD 116 (+TGAT)) 241, HBB:c.357delT (Hb Sainte Seve) 242, HBB:c.363delA (Hb Filottrano) 243, HBB:c.363dupA (CD 120/121 (+A)) 244, HBB:c.364G>T (CD 121 GAA>TAA (120aa)) 245, HBB:c.370delA (Hb Makabe) 246, HBB:c.370_378delACCCCACCA (Hb Khon Kaen) 247, HBB:c.375delA (CD 124 (-A) >156aa) 248, HBB:c.376_378dupCCA (CD 125 (+CCA)) 249, HBB:c.378delA (CD 125 (-A) >156aa) 250, HBB:c.380delT (Hb Vercelli) 252, HBB:c.380_396delTGCAGGCTGCCTATCAG (Hb Westdale) 253, HBB:c.383A>C (Hb Houston) 254, HBB:c.383A>G (Hb Dieppe) 255, HBB:c.382C>T (CD 127 CAG>TAG [Gln>STOP]) 256, HBB:c.383_385delAGG (Hb Gunma) 257, HBB:c.[385_388delinsCCACA;397_407delAAAGTGGTGGC] (CD 128/129 (-4, +5, -11 bp) >153aa) 258, HBB:c.394C>T (CD 131 (CAG>TAG)) 259, HBB:c.396_397insGCCT (CD 131/132 (+GCCT)) 260, HBB:c.396_397delGA (CD 131-132 (-GA) >138aa) 261, HBB:c.396_406del (CD 131-134 (-11bp) >134aa) 262, HBB:c.397A>T (CD 132 (AAA>TAA)) 263, HBB:c.404_413delinsGCAG (CD 134-137 (-12, +6 bp) Val-Ala-Gly-Val to Gly-Arg) 264, HBB:c.413_418delTGGCTA (Hb Stara Zagora) 265, HBB:c.424delC (Hb Florida) 267, HBB:c.*6C>G (3'UTR +6 C>G) 268, HBB:c.*47C>G (3'UTR +47 C>G) 269, HBB:c.*93_*105delATCTGGATTCTGC (3'UTR -13 bp [CAP +1567 to +1579]) 270, HBB:c.*108A>C (Poly A (A>C) AATAAA>CATAAA) 271, HBB:c.*108A>G (Poly A (A>G) AATAAA>GATAAA) 272, HBB:c.*110T>C (Poly A (T>C) AATAAA>AACAAA) 273, HBB:c.*110T>A (Poly A (T>A) AATAAA>AAAAAA) 274, HBB:c.*111A>G (Poly A (A>G) AATAAA>AATGAA) 275, HBB:c.*112A>G (Poly A (A>G) AATAAA>AATAGA) 276, HBB:c.*113A>G (Poly A (A>G) AATAAA>AATAAG) 277, HBB:c.*110_*111delTA (Poly A (-TA); (AATAAA>AAAA)) 278, HBB:c.*110_*114del (Poly A (-AATAA)) 280, NC_000011.10(NM_000518.4):c.93-22_95del (IVS I [3' end] (-25 bp)) 281, HBB:c.76_92+27del (IVS I [3 end] -44 bp) 282, HBB:c.-74_31del (105 bp deletion) 283, HBB:c.-176_92+25del (290 bp deletion) 284, NG_000007.3:g.70070_70537del (468 bp deletion) 285, HBB:c.-504_28del (Black) 286, NG_000007.3:g.71609_72227del619 (619 bp deletion) 288, NG_000007.3:g.70060_71452del1393 (Black, British) 289, NG_000007.3:g.69561_71164del1604 (Croatian) 291, NG_000007.3:g.67258_71501del (Czech) 292, NG_000007.3:g.[52524_60162del;66278_73952del] (Turk) 293, NG_000007.3:g.71548_79271del (Cape Verdean) 294, NG_000007.3:g.(67531_67533)_(77874_77876)del (Asian Indian) 295, NC_000011.10:g.5215894_5227926del (Australian (Anglo Saxon)) 296, NG_000007.3:g.68071_80682del12612 (Dutch) 298, NC_000011.10:g.5112882 _5231358del (Filipino) 299, 299 (Italian) 300, NG_000006.1:g.34247_38050del (-α3.7 (type I)) 301, NC_000016.10:g.169818_174075del (-α4.2) 302, NG_000006.1:g.36859_39252del (-α2.4) 303, NG_000006.1:g.36664_39364del2701 (-α2.7) 304, NG_000006.1:g.37464_40964del3501 (-α3.5) 305, NG_000006.1:g.28684_33930del5246 (-α5.3) 306, NG_000006.1:g.28322_36260del (-α7.9) 307, 307 (-α18) 309, NC_000016.10:g.165401_184701del (--SEA) 310, NC_000016.10:g.149863_183312del (--THAI) 311, NC_000016.10:g.151641_182316del (--FIL) 312, NG_000006.1:g.(23641_23662)_(41183_41203)del (--MED I) 313, NG_000006.1:g.(7740_9712)_(39907_41156)del (--MED II) 314, NG_000006.1:g.(18148_18200)_(37868_37901)del (-(α)20.5) 315, NC_000016.10:g.159052_182788delins139752_139596 (--SA) 316, 316 (-(α)5.2) 317, NG_000006.1:g.32864_42264del9401 (--GEO) 318, NC_000016.10:g.(169756_170100)_(179044_181595)del (--SPAN) 319, NG_000006.1:g.18964_39864del20901 (--MA) 320, NC_000016.10:g.155501_184801del (--BRIT) 321, NC_000016.10:g.152451_263801del (--CL) 322, NC_000016.10:g.(158380_161516)_ (186053_?) (--CI) 323, NG_000006.1:g.8464_40664del32201 (--CAL) 324, NC_000016.10:g.(13158_13584)_(39907_41256)del (--115) 325, NC_000016.10:g.151401_188301del (--RT) 326, NG_000006.1:g.(16201_17547)_(41420_42633)del (--YEM) 327, NC_000016.10:g.139301_182501del (--MC) 328, NC_000016.10:g.(168531_169756)_(182770_183028)del (--CANT) 329, NC_000016.10:g.(151719_151746)_(185067_185093)del (--KOL) 330, NG_000006.1:g.(31695_31724)_(42846_42867)del (--11.1) 331, NC_000016.10:g.(149158_152418)_(249560_284571)del (--OH) 332, 332 ((αα)RA) 333, NC_000016.10:g.10023_122854del ((αα)TI) 334, 334 ((αα)IJ) 335, NC_000016.10:g.10018_157684del ((αα)CMO) 336, NC_000016.10:g.10020_152823del ((αα)TAT) 337, 337 ((αα)MB) 338, NC_000016.10:g.10018_131194delinsAC ((αα)IC) 339, NC_000016.10:g.10020_154449del ((αα)IdF) 340, HBA1:c.-16T>C (CAP +22 T>C) 341, HBA1:c.1A>G (Init CD ATG>GTG) 342, HBA2:c.2T>C (Init CD ATG>ACG [Met>Thr]) 343, HBA2:c.2delT (Init CD ATG>A-G) 344, HBA2:c.1delA (Init CD ATG>-TG) 345, NG_000006.1:g.[33776A>G;34247_38050del] (-α3.7;Init CD ATG>GTG) 346, NG_000006.1:g.[33773_33774del;34247_38050del] (-α3.7;Init CD ACCATG>--CATG) 347, HBA1:c.43T>C (Hb Evanston) 348, 348 (Hb Evanston) 349, HBA1:c.44G>A (CD 14 TGG>TAG [Trp>STOP]) 350, HBA2:c.56delG (CD 18 GGC>G-C) 351, HBA2:c.64G>T (Hb Zoetermeer) 352, HBA2:c.69C>T (CD 22 GGC>GGT new donor consensus) 353, HBA2:c.69delC (CD 22 -C) 354, HBA2:c.70G>T (CD 23 GAG>TAG [Glu>STOP]) 355, HBA2:c.79G>A (Hb Caserta) 356, HBA2:c.89T>C (Hb Agrinio) 357, HBA2:c.91_93delGAG (CD 30 -GAG [-Glu]) 358, HBA1:c.95+1G>A (IVS I-1 AGGT>AGAT donor) 359, HBA2:c.95+2_95+6delTGAGG (IVS I-2 (-5 bp) GAGGTGAGG>GAGG----- donor) 360, HBA2:c.95+5 G>A (IVS I-5 G>A) 361, HBA1:c.95+5 G>A (IVS I-5 G>A) 362, HBA2:c.95+55 G>A (IVS I-55 G>A) 363, HBA2:c.96-2A>G (IVS I-116 GCAGGA>GCGGGA acceptor) 364, HBA1:c.96-1G>A (IVS I-117 GCAGGA>GCAAGA acceptor) 365, NG_000006.1:g.[33869_33870del;34247_38050del] (-α3.7;CD 31 AGG>--G) 366, HBA2:c.95G>A (CD 31 AGG>AAG [Arg>Lys]) 367, HBA2:c.99G>A (Hb Amsterdam) 368, HBA2:c.101T>C (Hb Chartres) 369, HBA2:c.106T>C (Hb Evora) 370, HBA1:c.112_114delCCC (Hb Heraklion) 371, HBA1:c.118_120del (Hb Taybe) 372, NG_000006.1:g.34010_34018delinsTACTTCCC (CD 39-41 (-9 bp, + 8 bp)) 373, HBA2:c.127T>C (Hb Barika) 374, HBA2:c.149_150delGC (CD 49 -GC) 375, HBA1:c.155_167delGCTCTGCCCAGGT (CD 51-55 (-13 bp deletion)) 376, HBA2:c.163C>T (CD 54 (CAG>TAG)) 377, HBA2:c.179G>A (Hb Adana) 378, HBA1:c.179G>A (Hb Adana) 379, HBA2:c.178G>C (Hb Zurich-Albisrieden) 380, HBA1:c.184_186del (Hb Clinic) 381, HBA1:c.187_189del (Hb Aghia Sophia) 382, HBA1:c.187delG (Hb Champaign) 383, HBA1:c.193_225del33 (CD 64-74 (-33 bp)) 384, HBA2:c.190T>C (Hb Dartmouth) 385, HBA1:c.212_214delGAC (CD 74/75 -GAC [- Asp]) 386, HBA1:c.237delC (CD 78 -C) 387, HBA1:c.247_255del (CD 82-84 (-9 bp)) 388, HBA2:c.271A>T (CD 90 AAG>TAG) 389, HBA2:c.281T>G (Hb Bronte) 390, HBA1:c.280_300ins21 (CD 93-99 (+21 bp)) 391, HBA2:c.300+2T>A (IVS II-2 GT>GA donor) 392, HBA2:c.301-1G>A (IVS II-142 G>A) 393, HBA1:c.301-2A>G (IVS II-148 A>G consensus) 394, HBA2:c.311A>T (Hb Bronovo) 395, HBA1:c.313T>A (Hb Oegstgeest) 396, HBA2:c.314G>A (Hb Sallanches) 397, HBA2:c.326C>A (Hb Bleuland) 398, HBA1:c.328delC (Hb Sciacca) 399, HBA2:c.329T>G (Hb Suan Dok) 400, 400 (Hb Suan Dok) 401, HBA1:c.332C>A | HBA2:c.332C>A (Hb Petah Tikva) 402, HBA2:c.339delC (CD 112/113 -C) 404, HBA2:c.[339C>G;340_351delCTCCCCGCCGAG] (Hb Leida) 405, HBA2:c.349G>T (CD 116 GAG>TAG) 406, HBA1:c.358C>T (Hb Groene Hart) 407, HBA1:c.370G>C (Hb Voreppe) 408, HBA2:c.377T>C (Hb Quong Sze) 409, HBA2:c.377T>G (Hb Plasencia) 410, 410 (-α3.7;CD 125 CTG>CAG [Leu>Gln]) 411, NM_000558.3(HBA1):c.389T>C (Hb Tunis-Bizerte) 412, HBA2:c.389T>C (Hb Utrecht) 413, HBA2:c.391G>C (Hb Sun Prairie) 414, HBA2:c.394T>C (Hb Questembert) 415, HBA1:c.398T>G | HBA2:c.398T>G (Hb Caen) 416, HBA1:c.396dup (Hb Pak Num Po) 417, HBA2:c.410T>C (Hb Bibba) 418, HBA2:c.427T>C (Hb Constant Spring) 419, HBA2:c.427T>A (Hb Icaria) 420, HBA2:c.428A>C (Hb Koya Dora) 421, HBA2:c.427T>G (Hb Seal Rock) 422, HBA2:c.429A>T (Hb Paksé) 424, HBA2:c.*94A>G (Poly A (AATAAA>AATAAG)) 425, HBA2:c.*92A>G (Poly A (AATAAA>AATGAA)) 426, HBA2:c.*93_*94delAA (Poly A (AATAAA>AATA--)) 427, HBA2:c.*94A>C (Poly A (AATAAA>AATAAC)) 428, HBA2:c.*74_*89delCCTTCCTGGTCTTTGA (3'UTR -16 bp) 429, HBA1:c.4G>T (Hb Baldock) 431, HBA2:c.4G>A (Hb A2-Fontanabuona) 432, HBA1:c.5T>G | HBA2:c.5T>G (Hb Antananarivo) 433, HBA1:c.5T>A | HBA2:c.5T>A (Hb Thionville) 434, HBA2:c.5T>C (Hb Lyon-Bron) 435, HBA1:c.8T>G (Hb Chongqing) 436, HBA1:c.10T>C | HBA2:c.10T>C (Hb Central Middlesex) 437, HBA1:c.11C>T (Hb Douala) 438, HBA2:c.14C>G (Hb Gorée) 439, HBA2:c.14C>A (Hb Bellevue) 440, HBA1:c.16G>C | HBA2:c.16G>C (Hb Karachi) 441, HBA1:c.17C>A (Hb J-Toronto) 442, HBA1:c.19G>T (Hb Woodville) 443, HBA1:c.19G>A | HBA2:c.19G>A (Hb Dunn) 444, HBA1:c.19G>C (Hb Galliera I) 445, HBA2:c.19G>C (Hb Galliera II) 446, HBA1:c.19_21delGAC | HBA2:c.19_21delGAC (Hb Boyle Heights) 447, HBA2:c.20A>G (Hb Swan River) 448, HBA1:c.20A>T | HBA2:c.20A>T (Hb Ferndown) 449, HBA1:c.20A>C | HBA2:c.20A>C (Hb Sawara) 450, HBA1:c.22A>G (Hb Kurosaki) 451, HBA2:c.23A>G (Hb Guanajuato) 452, HBA1:c.24G>C | HBA2:c.24G>C (Hb Tatras) 453, HBA1:c.29A>G (Hb Anadour) 454, HBA2:c.29A>G (Hb Zurich-Hottingen) 455, HBA1:c.29A>C | HBA2:c.29A>C (Hb Broomfield) 456, HBA1:c.30C>G | HBA1:c.30C>A (Hb Delfzicht) 457, HBA2:c.30C>G (Hb Park Ridge) 458, HBA2:c.34A>C (Hb J-Wenchang-Wuming) 459, HBA2:p.Lys12Glu | HBA1:p.Lys12Glu (Hb Anantharaj) 460, HBA1:c.36G>C | HBA1:c.36G>T | HBA2:c.36G>C | HBA2:c.36G>T (Hb Albany-Suma) 461, HBA2:c.38C>A (Hb J-Paris-I) 462, HBA1:c.40G>C | HBA2:c.40G>C (Hb Ravenscourt Park) 464, HBA2:c.45G>C (Hb Bladensburg) 465, HBA1:c.46G>C (Hb Ottawa) 466, HBA1:c.47G>A (Hb I-Interlaken) 467, HBA2:c.49A>G (HbI) 468, HBA1:c.50A>T (Hb Harbin) 469, HBA2:c.50A>C (Hb Boa Esperanca) 470, HBA2:c.51G>T (Hb Beijing) 471, HBA1:c.55G>C (Hb Handsworth) 472, HBA1:c.56G>A | HBA2:c.56G>A (Hb Al-Ain Abu Dhabi) 473, HBA2:c.59C>A (Hb J-Tashikuergan) 474, HBA2:c.59_60delinsAY^HBA1:c.59_60delinsAY (Hb J-Kurosh) 475, HBA1:c.61C>T | HBA2:c.61C>T (Hb Necker Enfants-Malades) 476, HBA2:c.61C>G (Hb Nikaia) 478, HBA1:c.62A>G | HBA2:c.62A>G (Hb Hobart) 479, HBA2:c.63C>A (Hb Le Lamentin) 481, HBA2:c.64G>C (Hb Fontainebleau) 482, HBA1:c.65C>A (Hb J-Nyanza) 483, HBA1:c.68G>A | HBA2:c.68G>A (Hb J-Medellin) 484, HBA2:c.70G>C (Hb Memphis) 485, HBA2:c.70G>A (Hb Chad) 486, HBA1:c.71A>G | HBA2:c.71A>G (Hb Reims) 487, HBA1:c.71A>T | HBA2:c.71A>T (Hb G-Audhali) 488, HBA1:c.72G>T | HBA2:c.72G>T (Hb Lisbon) 489, HBA1:c.73T>C | HBA2:c.73T>C (Hb Luxembourg) 490, HBA2:c.73T>G (Hb Creve Coeur) 491, HBA1:c.74A>G (Hb Ramona) 493, HBA2:c.80C>T (Hb Campinas) 494, HBA2:c.80C>A (Hb Shenyang) 495, HBA2:c.82G>A (Hb Shuangfeng) 496, HBA2:c.83A>G (Hb Fort Worth) 497, HBA2:c.83A>T (Hb Spanish Town) 498, HBA1:c.83A>C | HBA2:c.83A>C (Hb Hackney) 499, HBA2:c.84G>C (Hb Hekinan) 502, NM_000558.5(HBA1):c.91G>C (Hb G-Honolulu) 503, HBA2:c.91G>A (Hb O-Padova) 504, HBA1:c.92A>C (Hb Bom Jesus da Lapa) 505, HBA1:c.92A>T (Hb Itapira) 506, HBA2:c.96G>C (Hb Prato) 509, HBA1:c.104T>G (Hb Queens) 511, HBA2:c.107C>A (Hb Shinagawa) 512, HBA2:c.109T>C (Hb Geisinger) 514, HBA2:c.113C>T (Hb Manawatu) 515, HBA2:c.113C>G (Hb Boumerdes) 516, HBA1:c.114_115insGAA | HBA2:c.114_115insGAA (Hb Catonsville) 517, HBA1:c.116C>T (Hb Chelsea) 519, HBA1:c.121A>G | HBA2:c.121A>G (Hb Kariya) 520, HBA2:c.121A>C (Hb Linwood) 521, HBA2:c.122A>T (Hb Kanagawa) 522, HBA1:c.122A>C (Hb Pisa) 523, HBA1:c.123G>C (Hb Saratoga Springs) 524, HBA2:c.123G>C (Hb Villiers le Bel) 525, HBA1:c.124A>T | HBA1:c.125C>G | HBA2:c.124A>T | HBA2:c.125C>G (Hb Miyano) 527, HBA1:c.130T>G | HBA2:c.130T>G (Hb Torino) 528, HBA2:c.130T>A (Hb Sens) 529, HBA2:c.132C>G (Hb Hirosaki) 530, HBA1:c.133C>G (Hb Hagerstown) 532, HBA1:c.134C>G | HBA2:c.134C>G (Hb Kawachi) 533, HBA2:c.134C>T (Hb Milledgeville) 534, HBA1:c.136C>T | HBA2:c.136C>T (Hb Matsudo) 535, HBA1:c.136C>G | HBA2:c.136C>G (Hb Poitiers) 536, HBA1:c.137A>G (Hb Fort de France) 537, HBA2:c.137A>C (Hb Oita) 538, HBA2:c.138C>G (Hb Bari) 539, HBA1:c.139T>C | HBA1:c.141C>A | HBA1:c.141C>G | HBA2:c.139T>C | HBA2:c.141C>A | HBA2:c.141C>G (Hb Rockaway) 540, HBA1:c.139T>G | HBA2:c.139T>G (Hb Hillingdon) 541, HBA2:c.142G>C (Hb Hasharon) 542, HBA1:c.142G>A (Hb Arya) 543, HBA2:c.142G>T (Hb Kurdistan) 544, HBA1:c.143A>G | HBA2:c.143A>G (Hb Beilinson) 545, HBA1:c.143A>C | HBA2:c.143A>C (Hb Cordele) 546, HBA2:c.146T>G (Hb Montgomery) 547, HBA1:c.146T>C (Hb Reading) 548, HBA2:c.150C>A |HBA2:c.150C>G (Hb Savaria) 549, HBA2:c.151C>G (Hb J-Sardegna) 550, NM_000558.5(HBA1):c.152A>T (Hb Dublin) 551, HBA1:c.152A>G | HBA2:c.152A>G (Hb Aichi) 552, HBA2:c.153C>G (Hb Frankfurt) 553, HBA1:c.154G>A (Hb Riccarton) 554, HBA2:c.154G>C (Hb Russ) 555, HBA1:c.155G>A | HBA2:c.155G>A (Hb J-Abidjan) 556, HBA1:c.157_180del (Hb J-Biskra) 557, HBA2:c.158C>T (Hb Essex) 558, HBA2:c.161C>A (Hb J-Rovigo) 559, HBA1:c.163C>G (Hb Mexico) 560, HBA1:c.164A>G (Hb Shimonoseki) 561, HBA1:c.166G>C (Hb Roubaix) 562, HBA1:c.167T>C (Hb Gerland) 563, HBA2:c.167T>C (Hb Gerland) 564, HBA2:c.169A>G (Hb Shaare Zedek) 565, HBA1:c.170A>G | HBA2:c.170A>G (Hb Port Huron) 566, HBA1:c.170A>C (Hb Thailand) 567, HBA1:c.171G>C | HBA1:c.171G>T (Hb Belliard) 568, HBA1:c.172G>C (Hb L-Persian Gulf) 569, HBA2:c.173G>A (Hb J-Norfolk) 570, HBA2:c.175C>T (Hb M-Boston) 571, HBA2:c.177C>A (Hb Boghé) 573, HBA1:c.178G>A (Hb Parma) 575, HBA1:c.179G>T | HBA2:c.179G>T (Hb Tottori) 577, HBA2:c.181A>G (Hb Dagestan) 578, HBA1:c.183G>T (Hb Zambia) 580, HBA1:c.184A>G | HBA2:c.184A>G (Hb Miyagi) 581, HBA2:c.185A>C (Hb J-Anatolia) 582, HBA1:c.186G>T (Hb J-Buda) 583, HBA2:c.187G>A (Hb Evans) 585, NM_000558.5(HBA1):c.191C>A (Hb Pontoise) 586, HBA1:c.193G>T | HBA2:c.193G>T (Hb Persepolis) 587, HBA1:c.193G>C (Hb Q-India) 588, HBA2:c.193G>A (Hb G-Waimanalo) 589, HBA1:c.194A>G | HBA2:c.194A>G (Hb Guangzhou-Hangzhou) 590, HBA2:c.196G>A (Hb Part-Dieu) 591, HBA1:c.197C>T | HBA2:c.197C>T (Hb Bois Guillaume) 593, HBA2:c.205A>G (Hb Ube-2) 594, HBA1:c.205A>C (Hb Jeddah) 595, HBA2:c.205A>C (Hb St. Truiden) 596, HBA2:c.207C>A (Hb G-Philadelphia) 597, HBA1:c.207_208insGCGCTGACCAAC (Hb Esch) 598, HBA2:c.208G>A (Hb Decines-Charpieu) 599, HBA1:c.211G>A (Hb Haaksbergen) 600, HBA1:c.215C>A | HBA2:c.215C>A (Hb J-Habana) 602, HBA2:c.217C>G (Hb Norton) 603, HBA1:c.217C>T | HBA2:c.217C>T (Hb Fuchu-I) 604, HBA2:c.218A>G (Hb Daneshgah-Tehran) 605, HBA2:c.219C>A (Hb Gouda) 606, HBA2:c.223G>A (Hb G-Pest) 607, HBA1:c.223G>C (Hb Q-Thailand) 608, HBA1:c.224A>T (Hb Les Lilas) 609, HBA1:c.224A>G (Hb Chapel Hill) 610, HBA1:c.224A>C | HBA2:c.224A>C (Hb Lille) 611, HBA2:c.226_228del (Hb Watts) 612, HBA2:c.226G>A (Hb Matsue-Oki) 613, HBA2:c.226G>C (Hb Q-Iran) 614, HBA2:c.226G>T (Hb Winnipeg) 615, HBA2:c.227A>T (Hb Al-Hammadi Riyadh) 616, HBA2:c.227A>G (Hb Mizushi) 617, HBA1:c.230T>G | HBA2:c.230T>G (Hb Walpole) 618, HBA2:c.230T>C (Hb Aztec) 619, HBA1:c.230T>A | HBA2:c.230T>A (Hb Noko) 620, HBA2:c.231G>A (Hb Hellux) 621, HBA2:c.233C>A (Hb Toulon) 622, HBA2:c.233C>T (Hb Asklipios) 623, HBA1:c.233C>G | HBA2:c.233C>G (Hb GuiZhou) 624, HBA1:c.235A>G | HBA2:c.235A>G (Hb J-Singa) 625, HBA1:c.235A>C (Hb Davenport) 626, HBA2:c.[237C>A ;237C>G] (Hb Stanleyville-II) 627, HBA1:c.238G>A | HBA2:c.238G>A (Hb Mantes-La-Jolie) 628, HBA2:c.239C>G (Hb J-Singapore) 629, HBA2:c.241C>G (Hb Conakry) 630, HBA2:c.242T>G (Hb Ann Arbor) 631, HBA2:c.244T>C (Hb Passy) 632, HBA1:c.245C>G (Hb Nigeria) 633, HBA1:c.247G>A (Hb Hagley Park) 634, HBA1:c.248C>A | HBA2:c.248C>A (Hb Garden State) 635, HBA2:c.251T>C (Hb Les Andelys) 636, HBA1:c.253A>G | HBA2:c.253A>G (Hb Wembley) 637, HBA1:c.255C>A (Hb Etobicoke) 638, HBA2:c.254G>A (Hb Meulan) 639, HBA1:c.256G>A (Hb G-Norfolk) 640, HBA1:c.256G>T | HBA2:c.256G>T (Hb Atago) 641, HBA1:c.256G>C (Hb Canuts) 642, HBA2:c.257A>T (Hb Inkster) 643, HBA1:c.260T>G | HBA2:c.260T>G (Hb Moabit) 644, HBA1:c.253_261dup | HBA2:c.253_261dup (Hb Neuilly-sur-Marne) 645, HBA2:c.262C>T (Hb M-Iwate) 646, HBA1:c.262C>A | HBA2:c.262C>A (Hb Auckland) 647, HBA1:c.262C>G (Hb Bonn) 648, HBA1:c.263A>G | HBA2:c.263A>G (Hb Iwata) 649, HBA1:c.263A>C (Hb Grifton) 650, HBA1:c.265G>T | HBA2:c.265G>T (Hb Loire) 651, HBA1:c.266C>A | HBA2:c.266C>A (Hb Wroclaw) 652, HBA1:c.266C>T | HBA2:c.266C>T (Hb Columbia Missouri) 653, HBA1:c.266C>G | HBA2:c.266C>G (Hb Valparaiso) 654, HBA2:c.268C>T (Hb Villeurbanne) 655, HBA1:c.269A>C | HBA2:c.269A>C (Hb Tokyo) 656, HBA1:c.269A>G | HBA2:c.269A>G (Hb Tamano) 657, HBA2:c.269A>T (Hb Luton) 658, HBA1:c.270C>G (Hb Buffalo) 659, HBA1:c.271A>G | HBA2:c.271A>G (Hb Sudbury) 660, HBA1:c.272A>T | HBA2:c.272A>T (Hb Handa) 661, HBA2:c.272A>G (Hb Clinico-Madrid) 662, HBA1:c.272A>G (Hb Clinico Madrid II) 663, HBA1:c.272A>C (Hb J-Rajappen) 664, HBA2:c.273G>T (Hb J-Broussais) 665, HBA1:c.274C>T (Hb Vientiane) 666, HBA2:c.275T>C (Hb Port Phillip) 667, HBA1:c.277C>T | HBA2:c.277C>T (Hb Cemenelum) 668, HBA1:c.278G>A (Hb J-Cape Town) 669, HBA2:c.278G>T (Hb Chesapeake) 670, HBA2:c.278G>C (Hb Monou) 672, HBA1:c.281T>C (Hb Die) 673, HBA2:c.283G>T (Hb Setif) 674, HBA2:c.283G>A (Hb Titusville) 675, HBA2:c.283G>C (Hb Sunshine Seth) 676, HBA2:c.284A>T (Hb Kirksey) 677, HBA1:c.284A>C (Hb Bassett) 678, HBA1:c.284A>G (Hb Çapa) 679, HBA1:c.285C>G | HBA2:c.285C>G (Hb Roanne) 680, HBA2:c.286C>G (Hb Denmark Hill) 681, NM_000558.3(HBA1):c.286C>A (Hb Godavari) 682, NM_000517.4(HBA2):c.286C>T (Hb Rampa) 683, HBA2:c.287C>T (Hb G-Georgia) 684, HBA1:c.287C>G (Hb St. Luke's) 685, HBA1:c.287C>A (Hb Wichita) 686, HBA2:c.290T>A (Hb El Escorial) 687, HBA2:c.292A>C (Hb Fuchu-II) 688, HBA2:c.294C>A (Hb Dallas) 689, HBA1:c.296T>A | HBA2:c.296T>A (Hb Mill Hill) 690, NM_000558.5(HBA1):c.298A>G (Hb Turriff) 691, HBA1:c.300G>T (Hb Beziers) 692, HBA2:c.307A>C (Hb Manitoba I) 693, HBA1:c.309C>A (Hb Manitoba II) 694, HBA2:c.309C>A (Hb Manitoba III) 695, HBA1:c.310C>T (Hb Charolles) 696, HBA2:c.310C>T (Hb Lombard) 698, HBA1:c.311A>G | HBA2:c.311A>G (Hb Contaldo) 701, HBA1:c.320T>C (Hb Charlieu) 704, HBA1:c.331G>A | HBA2:c.331G>A (Hb Tonosho) 706, HBA1:c.334G>A | HBA2:c.334G>A (Hb Mosella) 707, HBA2:c.335C>T (Hb Anamosa) 708, NM_000558.5(HBA1):c.337C>G (Hb Hopkins-II) 709, HBA1:c.338A>G | HBA2:c.338A>G (Hb Strumica) 711, HBA2:c.341T>G (Hb San Antonio) 712, HBA1:c.341T>A | HBA2:c.341T>A (Hb Twin Peaks) 713, NM_000517.6(HBA2):c.343C>T (Hb Melusine) 714, HBA2:c.343C>A (Hb Jura) 715, NM_000558.3(HBA1):c.344C>T (Hb Nouakchott) 716, HBA1:c.344C>G | HBA2:c.344C>G (Hb Chiapas) 717, HBA1:c.347C>A | HBA2:c.347C>A (Hb J-Tongariki) 718, HBA1:c.349G>C | HBA2:c.349G>C (Hb Oleander) 719, HBA1:c.350A>C (Hb Ube-4) 720, HBA1:c.349G>A (Hb O-Indonesia) 721, HBA1:c.337_351dup | HBA2:c.337_351dup (Hb Zaïre) 722, HBA2:c.352T>A (Hb Ambroise Pare) 723, HBA1:c.349_357dup (Hb Grady) 724, HBA1:c.354_355insATC (Hb Phnom Penh) 726, HBA1:c.359C>T (Hb Diamant) 727, HBA2:c.362C>A (Hb J-Meerut) 728, HBA1:c.364G>A (Hb Owari) 729, HBA1:c.367C>T (Hb Yanase) 730, HBA2:c.369C>G (Hb Westmead) 731, HBA2:c.370G>A (Hb Santa Barnabas) 733, HBA1:c.370G>T (Hb Mulhacen) 734, HBA2:c.373T>C (Hb Policoro) 736, HBA2:c.377T>A (Hb West-Einde) 738, HBA1:c.379G>C (Hb Sassari) 739, HBA1:c.379G>T (Hb Montefiore) 741, HBA2:c.380A>G (Hb West One) 742, HBA1:c.380A>T | HBA2:c.380A>T (Hb Fukutomi) 743, HBA1:c.381C>G (Hb Burlington) 744, HBA1:c.383A>C | HBA2:c.383A>C (Hb St. Claude) 745, HBA1:c.384G>C | HBA1:c.384G>T | HBA2:c.384G>C | HBA2:c.384G>T (Hb Jackson) 749, HBA1:c.392C>T (Hb Westborough) 750, HBA2:c.392C>A (Hb Yuda) 752, HBA1:c.395C>T (Hb Lusaka) 753, HBA1:c.396delT (Hb Fez) 756, HBA1:c.401G>A | HBA2:c.401G>A (Hb Saclay) 757, HBA2:c.402C>A (Hb Val de Marne) 758, HBA2:c.403A>G (Hb Brunswick) 759, HBA1:c.403A>T | HBA1:c.404C>G | HBA2:c.403A>T | HBA2:c.404C>G (Hb Kenton) 760, HBA1:c.404delC (Hb Senlis) 761, HBA2:c.406G>C (Hb Tottenham) 762, HBA1:c.406G>A (Hb Trenton) 763, HBA1:c.407T>A | HBA2:c.407T>A (Hb Pavie) 764, HBA2:c.409C>A (Hb Chicago) 766, HBA1:c.410T>G | HBA2:c.410T>G (Hb Toyama) 767, HBA1:c.412A>C (Hb Verona) 768, HBA1:c.415T>C | HBA2:c.415T>C (Hb Attleboro) 769, HBA1:c.416C>G (Hb Ecuador) 770, HBA2:c.416C>T (Hb Frauenfeld) 771, HBA1:c.418A>G (Hb Hanamaki-1) 772, HBA2:c.418A>G (Hb Hanamaki-2) 773, NM_000558.5(HBA1):c.419A>C (Hb Tokoname) 774, HBA2:c.420A>C (Hb Fukui) 775, HBA2:c.420delA (Hb Wayne) 776, NM_000558.5(HBA1):c.421T>C (Hb Ethiopia) 777, HBA2:c.423C>A (Hb Natal) 778, HBA1:c.424C>A | HBA2:c.424C>A (Hb J-Cubujuqui) 779, NM_000558.3(HBA1):c.424C>G (Hb J-Camagüey) 780, HBA2:c.424C>T (Hb Nunobiki) 781, HBA2:c.425G>C (Hb Singapore) 782, HBA1:c.425G>T (Hb Legnano) 783, NM_000558.3(HBA1):c.425G>A (Hb Suresnes) 785, HBA2:c.[427T>C;429A>T] (Hb Zurich-Altstetten) 790, HBB:c.4G>A (Hb South Florida) 791, HBB:c.4G>T (Hb Niigata) 792, HBB:c.5T>G (Hb Watford) 793, HBB:c.5T>C (Hb Raleigh) 794, HBB:c.5T>A (Hb Doha) 795, HBB:c.7C>T (Hb Fukuoka) 796, HBB:c.8A>C (Hb Marseille) 797, HBB:c.8A>T (Hb Graz) 799, HBB:c.8A>G (Hb Deer Lodge) 800, HBB:c.9T>A | HBB:c.9T>G (Hb Okayama) 802, HBB:c.10C>G (Hb Kamakura) 803, HBB:c.11T>A (Hb Santo Domingo) 804, HBB:c.14C>A (Hb Wurzburg) 805, HBB:c.16C>T (Hb Tyne) 806, HBB:c.16C>G (Hb Gorwihl) 807, HBB:c.17C>G (Hb Warwickshire) 808, HBB:c.[19G>A;286A>G] (Hb Arlington Park) 809, HBB:c.[19G>A ;295G>A] (Hb Kingsbury) 810, HBB:c.19G>A (HbC) 811, HBB:c.[19G>A;112T>A] | HBB:c.[19G>A;112T>C] (Hb C-Rothschild) 812, HBB:c.[19G>A;251G>A] (Hb C-New Cross) 813, HBB:c.19G>C (Hb Machida) 814, HBB:c.[20A>T;399A>C] (Hb S-South End) 815, HBB:c.[20A>T;70G>A] (Hb S-Antilles) 816, HBB:c.[20A>T;176C>G] (Hb C-Ziguinchor) 817, HBB:c.[20A>T;220G>A] (Hb C-Harlem) 818, HBB:c.[20A>T;249G>C] | HBB:c.[20A>T;249G>T] (Hb S-Providence) 819, HBB:c.[20A>T;428C>T] (Hb S-Travis) 820, HBB:c.[20A>T;112T>G] (Hb C-Ndjamena; Hb S-Northwick) 821, HBB:c.[20A>T;364G>A] (Hb S-Oman) 822, HBB:c.[20A>T;26A>C] (Hb S-Clichy) 823, HBB:c.[20A>T;271G>A] (Hb S-Cameroon) 824, HBB:c.20A>T (HbS) 825, HBB:c.[20A>T;205C>T] (Hb Jamaica Plain) 826, HBB:c.20A>C (Hb G-Makassar) 827, HBB:c.20A>G (Hb Lavagna) 828, HBB:c.22_24delGAG (Hb Leiden) 829, HBB:c.22G>A (Hb G-Siriraj) 830, HBB:c.23A>G (Hb G-San José) 831, HBB:c.25A>C (Hb J-Luhe) 832, HBB:c.25A>G (Hb N-Timone) 833, HBB:c.26A>C (Hb Rio Grande) 834, HBB:c.26A>T (Hb Nakano) 835, HBB:c.26A>G (Hb Lucknow) 836, HBB:c.27G>C (Hb Limassol) 837, HBB:c.29C>A (Hb Brem-sur-Mer) 838, HBB:c.29C>G (Hb Pôrto Alegre) 839, HBB:c.[29C>A;364G>C] (Hb D-Agri) 840, HBB:c.31G>A (Hb Belleville) 841, HBB:c.32C>T (Hb Iraq-Halabja) 842, HBB:c.32C>A (Hb Ankara) 843, HBB:c.34G>A (Hb Hamilton) 844, HBB:c.34G>T (Hb Washtenaw) 845, HBB:c.[34G>A;364G>A] (Hb O-Tibesti) 847, HBB:c.35T>A (Hb Windsor) 848, HBB:c.41C>A (Hb J-Lens) 849, HBB:c.44T>C (Hb Saki) 850, HBB:c.44T>G (Hb Sogn) 851, HBB:c.46T>G (Hb Randwick) 852, HBB:c.46T>A | HBB:c.46T>C (Hb Belfast) 853, HBB:c.49G>C (Hb D-Bushman) 854, HBB:c.50G>A (Hb J-Baltimore) 855, HBB:c.54_59del (Hb Lyon) 856, HBB:c.52A>G (Hb Nagasaki) 857, HBB:c.52A>C (Hb Nikosia) 858, HBB:c.54G>C | HBB:c.54G>T (Hb J-Amiens) 859, HBB:c.55G>A (Hb Baden) 860, HBB:c.56T>G (Hb Sinai-Baltimore) 861, HBB:c.58A>G (Hb Alamo) 863, HBB:c.60C>A | HBB:c.60C>G (Hb D-Ouled Rabah) 864, HBB:c.61G>A (Hb Olympia) 865, HBB:c.62T>G (Hb Uxbridge) 866, HBB:c.62T>A (Hb Trollhättan) 867, HBB:c.64G>T (Hb Yusa) 868, HBB:c.64G>C (Hb Karlskoga) 869, HBB:c.64G>A (Hb Cocody) 870, HBB:c.65A>G (Hb Connecticut) 871, HBB:c.65A>T (Hb Rocky Mountain) 872, HBB:c.69_80delAGTTGGTGGTGA (Hb Olinda) 873, HBB:c.67G>C (Hb D-Iran) 874, HBB:c.67G>A (Hb E-Saskatoon) 875, HBB:c.68A>T (Hb D-Granada) 876, HBB:c.68A>C (Hb G-Coushatta) 877, HBB:c.68A>G (Hb G-Taipei) 878, HBB:c.71_73del (Hb Freiburg) 879, HBB:c.70G>A (Hb Saveh) 880, HBB:c.70G>T (Hb Palmerston North) 881, HBB:c.71T>C (Hb Zoeterwoude) 882, HBB:c.71T>G (Hb Miyashiro) 883, HBB:c.71T>A (Hb Strasbourg) 885, HBB:c.73G>C (Hb Riverdale-Bronx) 886, HBB:c.74G>A (Hb Moscva) 887, HBB:c.74G>T (Hb Savannah) 888, HBB:c.76G>C (Hb G-Taiwan-Ami) 889, HBB:c.77G>A (Hb J-Auckland) 891, HBB:c.[79G>A;314G>C] (CD 26 GAG>AAG [Val>Lys], CD 104 AGG>ACG [Arg>Thr]) 892, HBB:c.[79G>A;364G>C] (Hb T-Cambodia) 893, HBB:c.80A>G (Hb Aubenas) 894, HBB:c.80A>C (Hb Tripoli) 895, HBB:c.80A>T (Hb Henri Mondor) 897, HBB:c.83C>T (Hb Grange-Blanche) 898, HBB:c.83C>A (Hb Volga) 899, HBB:c.83C>G (Hb Siirt) 900, HBB:c.85C>A (Hb Chile) 901, HBB:c.86T>C (Hb Genova) 902, HBB:c.86T>A (Hb Saint Louis) 904, HBB:c.88G>A (Hb Tizi-Ouzou) 905, HBB:c.89G>A (Hb Lufkin) 907, HBB:c.93G>T (Hb Tacoma) 908, HBB:c.94C>G (Hb Badalona) 909, HBB:c.95T>G (Hb Hakkari) 910, HBB:c.95T>C (Hb Yokohama) 911, HBB:c.97C>G (Hb Muscat) 912, HBB:c.98T>C (Hb Perth) 913, HBB:c.98T>A (Hb Clermont Ferrand) 915, HBB:c.98T>G (Hb Castilla) 916, HBB:c.100G>A (Hb Rio Claro) 919, HBB:c.103G>C (Hb Nantes) 920, HBB:c.103G>T (Hb Pitie-Salpetriere) 921, HBB:c.104T>A (Hb Santander) 922, HBB:c.107A>T (Hb Philly) 923, HBB:c.109C>A (Hb Linköping) 924, HBB:c.109C>G (Hb Brie Comte Robert) 925, HBB:c.109C>T (Hb North Chicago) 926, HBB:c.110C>G (Hb Sunnybrook) 927, HBB:c.110C>A (Hb Vila Real) 928, HBB:c.112T>A (Hb Rothschild) 929, HBB:c.112T>G (Hb Howick) 930, HBB:c.113G>C (Hb Hirose) 931, HBB:c.114G>T (Hb Kent) 932, HBB:c.115A>C (Hb Hazebrouck) 933, HBB:c.116C>A (Hb Hinwil) 934, HBB:c.116C>T (Hb La Coruna) 935, HBB:c.118C>A (Hb Alabama) 936, HBB:c.118C>G (Hb Vaasa) 937, HBB:c.119A>G (Hb Tianshui) 938, HBB:c.120G>C (Hb San Bruno) 939, HBB:c.122G>A (Hb Athens-GA) 940, HBB:c.122G>T (Hb Taipei-Tien) 941, HBB:c.123G>T (Hb Austin) 942, HBB:c.125T>G (Hb Ilmenau) 943, HBB:c.125T>C (Hb Denver) 944, HBB:c.125T>A (Hb Mequon) 945, HBB:c.127_129delTTT (Hb Bruxelles) 946, HBB:c.131_139del (Hb Niteroi) 947, HBB:c.127T>C (Hb Louisville) 948, HBB:c.127T>G (Hb Sendagi) 949, HBB:c.128T>C (Hb Hammersmith) 950, HBB:c.130G>C (Hb Hoshida) 951, HBB:c.130G>A (Hb Hornchurch) 952, HBB:c.131A>G (Hb Haringey) 953, HBB:c.131A>C (Hb G-Galveston) 954, HBB:c.134C>G (Hb Mississippi) 955, HBB:c.137T>C (Hb Cheverly) 956, HBB:c.137T>A (Hb Den Haag) 957, HBB:c.137T>G (Hb Arta) 958, HBB:c.139G>A (Hb Gainesville-GA) 959, HBB:c.140G>A (Hb K-Ibadan) 960, HBB:c.142G>A (Hb G-Copenhagen) 961, HBB:c.142G>C (Hb Maryland) 962, HBB:c.142G>T (Hb Maputo) 963, HBB:c.143A>C (Hb Avicenna) 964, HBB:c.143A>G (Hb Gavello) 965, HBB:c.143A>T (Hb Muravera) 966, HBB:c.146T>G (Hb Okaloosa) 967, HBB:c.146T>C (Hb Bab-Saadoun) 968, HBB:c.149C>G (Hb Colima) 969, HBB:c.149C>T (Hb Las Palmas) 970, HBB:c.151A>T (Hb Zurich-Langstrasse) 971, HBB:c.[152C>A;153T>A] | HBB:c.[152C>A;153T>G] (Hb Edmonton) 972, HBB:c.[154C>T;157G>A] (Hb Grenoble) 973, HBB:c.155C>A (Hb North Manchester) 974, HBB:c.155C>G (Hb Willamette) 975, HBB:c.157G>T (Hb Languidic) 976, HBB:c.157G>C (Hb Summer Hill) 977, HBB:c.157G>A (Hb Osu Christiansborg) 978, HBB:c.158A>G (Hb Hokusetsu) 979, HBB:c.158A>C (Hb Ocho Rios) 980, HBB:c.158A>T (Hb Akron) 982, HBB:c.160G>A (Hb Acharnes) 983, HBB:c.164T>A (Hb Jacksonville) 984, HBB:c.167T>A (Hb Matera) 985, HBB:c.169G>T (Hb Leeds) 986, HBB:c.169G>C (Hb Hamadan) 987, HBB:c.[169G>C;259G>C] (Hb Poissy) 988, HBB:c.170G>A (Hb J-Bangkok) 989, HBB:c.170_181del (Hb Tochigi) 990, HBB:c.172A>C (Hb Sidcup) 991, HBB:c.172A>G (Hb J-Daloa) 992, HBB:c.173A>C (Hb Viseu) 993, HBB:c.174C>A | HBB:c.174C>G (Hb G-Ferrara) 994, HBB:c.176C>A (Hb Sheffield) 995, HBB:c.176C>G (Hb Dhofar) 996, HBB:c.178A>G (Hb I-High Wycombe) 997, HBB:c.179A>C (Hb J-Kaohsiung) 998, HBB:c.180G>C | HBB:c.180G>T (Hb J-Lome) 999, HBB:c.181G>C (Hb Yatsushiro) 1000, HBB:c.182T>C (Hb Collingwood) 1002, HBB:c.184A>C (Hb Pocos de Caldas) 1003, HBB:c.184A>G (Hb N-Seattle) 1004, HBB:c.185A>T (Hb Bologna) 1005, HBB:c.186G>C | HBB:c.186G>T (Hb Hikari) 1006, HBB:c.187G>C (Hb Duarte) 1007, HBB:c.188C>A (Hb J-Europa) 1008, HBB:c.190C>A (Hb Haná) 1009, HBB:c.190C>T (Hb M-Saskatoon) 1010, HBB:c.191A>C (Hb Bicêtre) 1011, HBB:c.191A>G (Hb Zürich) 1012, HBB:c.194G>C (Hb Aubagne) 1013, HBB:c.194G>A (Hb J-Calabria) 1014, HBB:c.196A>C (Hb J-Cairo) 1015, HBB:c.[367T>C ; 197A>T] | HBB:c.[369C>A ; 197A>T] | HBB:c.[369C>G; 197A>T] (Hb Casablanca) 1016, HBB:c.197A>T (Hb J-Antakya) 1017, HBB:c.198G>C | HBB:c.198G>T (Hb J-Sicilia) 1018, HBB:c.199A>G (Hb I-Toulouse) 1019, HBB:c.200A>C (Hb Chico) 1020, HBB:c.201A>T (Hb Ulm) 1021, HBB:c.202G>A (Hb Alesha) 1023, HBB:c.203T>G (Hb Manukau) 1024, HBB:c.203T>A (Hb M-Milwaukee-I) 1025, HBB:c.203T>C (Hb Sydney) 1026, HBB:c.205C>T (Hb Loves Park) 1027, HBB:c.206T>A (Hb Brisbane) 1028, HBB:c.206T>C (Hb Mizuho) 1029, HBB:c.204_209dupGCTCGG (Hb Nishinomiya) 1030, HBB:c.208G>A (Hb City of Hope) 1031, HBB:c.208G>C (Hb Kenitra) 1032, HBB:c.209G>A (Hb Rambam) 1033, HBB:c.211G>C (Hb Abington) 1034, HBB:c.212C>A (Hb Seattle) 1035, HBB:c.212C>G (Hb Hershey) 1036, HBB:c.212C>T (Hb Marineo) 1037, HBB:c.215T>C (Hb Christchurch) 1038, HBB:c.219T>A (Hb Headington) 1039, HBB:c.220G>T (Hb Vancouver) 1040, HBB:c.220G>A (Hb G-Accra) 1041, HBB:c.221A>G (Hb Tilburg) 1042, HBB:c.221A>T (Hb Mobile) 1043, HBB:c.220_228delinsGCTCGGTGCCAG (Hb Montreal) 1044, HBB:c.224_229delGCCTGG (Hb Saint-Antoine) 1045, HBB:c.223G>A (Hb Kokomo) 1046, HBB:c.223G>C (Hb Aalborg) 1047, HBB:c.224G>T (Hb Bushwick) 1048, HBB:c.224G>A (Hb Shepherds Bush) 1049, HBB:c.226_228delCTG (Hb Vicksburg) 1050, HBB:c.[227T>C;424_426delCTG] (Hb Atlanta-Coventry) 1051, HBB:c.227T>C (Hb Atlanta) 1052, HBB:c.227T>G (Hb Pasadena) 1053, HBB:c.229G>C (Hb Calais) 1054, HBB:c.230C>T (Hb Harlequin) 1055, HBB:c.230C>A (Hb J-Chicago) 1056, HBB:c.[232C>T;242A>G] (Hb Villeparisis) 1057, HBB:c.232C>T (Hb Fukuyama) 1058, HBB:c.232C>G (Hb J-Iran) 1059, HBB:c.233A>T (Hb St. Joseph's) 1060, HBB:c.233A>G (Hb Costa Rica) 1061, HBB:c.234C>G (Hb Vienna) 1062, HBB:c.236T>G (Hb Quin-Hai) 1063, HBB:c.238G>C (Hb Tigraye) 1064, HBB:c.238G>A (Hb Yaizu) 1065, HBB:c.238G>T (Hb Tampa) 1066, HBB:c.239A>G (Hb G-Hsi-Tsou) 1067, HBB:c.241A>T (Hb Hounslow) 1068, HBB:c.243C>G (Hb G-Szuhu) 1069, HBB:c.245T>G (Hb Baylor) 1070, HBB:c.245T>A (Hb La Roche-sur-Yon) 1071, HBB:c.247A>C (Hb Tsurumai) 1072, HBB:c.247A>G (Hb Gàmbara) 1073, HBB:c.248A>C (Hb Rahere) 1074, HBB:c.248A>T (Hb Helsinki) 1075, HBB:c.248A>G (Hb Taradale) 1076, HBB:c.249G>C (Hb Providence) 1077, HBB:c.250G>C (Hb Muskegon) 1078, HBB:c.250G>T (Hb Ta-Li) 1079, HBB:c.251G>A (Hb Pyrgos) 1080, HBB:c.253A>G (Hb Saale) 1081, HBB:c.254C>A (Hb Beaujolais) 1082, HBB:c.254C>T (Hb Kofu) 1083, HBB:c.257T>C (Hb Buenos Aires) 1084, HBB:c.259G>C (Hb Cardarelli) 1085, HBB:c.[259G>A;260C>T] (Hb Nebraska) 1086, HBB:c.260C>A (Hb Olomouc) 1087, HBB:c.262_264delACA (Hb Tours) 1088, HBB:c.262A>C (Hb Valletta) 1089, HBB:c.263C>T (Hb Quebec-Chori) 1090, HBB:c.263C>A (Hb D-Ibadan) 1091, HBB:c.265C>G (Hb Oofuna) 1092, HBB:c.266T>G (Hb Borås) 1093, HBB:c.266T>C (Hb Santa Ana) 1094, HBB:c.270T>R (Hb Vanderbilt) 1095, HBB:c.269G>A (Hb Créteil) 1096, HBB:c.269G>C (Hb Villaverde) 1097, HBB:c.271G>A (Hb Agenogi) 1098, HBB:c.272A>G (Hb Roseau-Pointe a Pitre) 1099, HBB:c.273G>C (Hb Pierre-Bénite) 1100, HBB:c.280_294delTGTGACAAGCTGCAC (Hb Gun Hill | Hb GH) 1101, HBB:c.275T>C (Hb Sabine) 1102, HBB:c.275T>G (Hb Caribbean) 1103, HBB:c.277C>G (Hb J-Altgeld Gardens) 1104, HBB:c.277C>T (Hb M-Milwaukee-2) 1105, HBB:c.277C>A (Hb Redondo) 1106, HBB:c.278A>C (Hb Newcastle) 1107, HBB:c.278A>G (Hb Mozhaisk) 1108, HBB:c.[278A>C;315G>C] (Hb Duino) 1109, HBB:c.279C>G (Hb Saint Etienne) 1110, HBB:c.[280T>C;364G>C] (Hb Cleveland) 1111, HBB:c.280T>C (Hb Okazaki) 1112, HBB:c.281G>A (Hb Fort Dodge) 1114, HBB:c.283G>T (Hb Geldrop St Anna) 1115, HBB:c.283G>C (Hb Barcelona) 1116, HBB:c.283G>A (Hb Bunbury) 1117, HBB:c.284A>G (Hb Chandigarh) 1118, HBB:c.271_285dupGAGCTGCACTGTGAC (Hb Fairfax) 1119, HBB:c.286A>G (Hb N-Baltimore) 1120, HBB:c.287A>T (Hb J-Cordoba) 1121, HBB:c.288G>Y (Hb Detroit) 1122, HBB:c.289C>G (Hb Regina) 1123, HBB:c.290T>C (Hb Debrousse) 1124, HBB:c.274_288dup (Hb Koriyama) 1125, HBB:c.293_295delACG (Hb Galicia) 1126, HBB:c.292C>T (Hb Moriguchi) 1127, HBB:c.292C>A (Hb Santa Clara) 1128, HBB:c.293A>T (Hb Wood) 1129, HBB:c.293A>C (Hb Nagoya) 1130, HBB:c.294C>A | HBB:c.294C>G (Hb Malmö) 1131, HBB:c.295G>A (Hb Köln) 1132, HBB:c.296T>G (Hb Nottingham) 1133, HBB:c.296T>A (Hb Mainz) 1134, HBB:c.296T>C (Hb Djelfa) 1135, HBB:c.298G>T (Hb Ypsilanti) 1136, HBB:c.298G>C (Hb Yakima) 1137, HBB:c.298G>A (Hb Kempsey) 1138, HBB:c.299A>G (Hb Hotel-Dieu) 1139, HBB:c.299A>C (Hb Radcliffe) 1140, HBB:c.299A>T (Hb Chemilly) 1141, HBB:c.300T>A (Hb Coimbra) 1142, HBB:c.301C>G (Hb Nice) 1143, HBB:c.302C>G (Hb New Mexico) 1144, HBB:c.302C>T (Hb Brigham) 1145, HBB:c.304G>C (Hb Rush) 1146, HBB:c.304G>A (Hb British Columbia) 1147, HBB:c.305A>G (Hb Alberta) 1148, HBB:c.305A>C (Hb Youngstown | Hb St Mary's) 1149, HBB:c.306G>C | HBB:c.306G>T (Hb Potomac) 1150, HBB:c.307A>T (Hb Saint Mandé) 1151, HBB:c.307A>C (Hb Canebiere) 1152, HBB:c.308A>G (Hb Beth Israel) 1153, HBB:c.308A>C (Hb Kansas) 1154, HBB:c.309C>A | HBB:c.309C>G (Hb Richmond) 1155, HBB:c.310T>G (Hb Sparta) 1156, HBB:c.310T>A (Hb Saint Nazaire) 1157, HBB:c.312C>G (Hb Heathrow) 1158, HBB:c.313A>T (Hb Sainte Eugénie) 1159, HBB:c.314G>C (Hb Sherwood Forest) 1161, HBB:c.314G>A (Hb Alzette) 1162, HBB:c.315G>C (Hb Camperdown) 1163, HBB:c.316C>T (Hb South Milwaukee) 1166, HBB:c.320T>C (Hb Southampton) 1167, HBB:c.320T>A (Hb Tübingen) 1168, HBB:c.322G>C (Hb Burke) 1169, HBB:c.323G>A (Hb Lulu Island) 1170, HBB:c.325A>G (Hb Yoshizuka) 1171, HBB:c.325A>C (Hb Shizuoka) 1172, HBB:c.326A>T (Hb Schlierbach) 1173, HBB:c.326A>G (Hb Santa Juana) 1174, HBB:c.327C>A | HBB:c.327C>G (Hb Presbyterian) 1176, HBB:c.328G>C | HBB:c.328G>T (Hb Johnstown) 1177, HBB:c.328G>A (Hb San Diego) 1179, HBB:c.[334G>C;359G>A] (Hb Fannin-Lubbock II) 1180, HBB:c.334G>T (Hb Peterborough) 1181, HBB:c.335T>C (Hb Stanmore) 1182, HBB:c.337T>C (Hb Indianapolis) 1183, HBB:c.338G>T (Hb Canterbury) 1184, HBB:c.338G>A (Hb Yahata) 1185, HBB:c.339T>G (Hb Toranomon) 1186, HBB:c.340G>C | HBB:c.340G>T (Hb Champagne) 1187, HBB:c.341T>A (Hb New York) 1188, HBB:c.[343C>A;359G>A] (Hb Masuda) 1190, HBB:c.343C>A (Hb Zengcheng) 1192, HBB:c.346G>C (Hb Madrid) 1193, HBB:c.347C>T (Hb Roma) 1195, HBB:c.338_349dupGTGTGCTGGCCC (Hb Antibes-Juan-Les-Pins) 1196, HBB:c.349C>T (Hb Rhode Island) 1197, HBB:c.350A>C (Hb Miami) 1198, HBB:c.350A>G (Hb Sfax) 1199, HBB:c.350A>T (Hb Vexin) 1200, HBB:c.351T>A | HBB:c.351T>G (Hb Hafnia) 1201, HBB:c.352C>A (Hb Brent) 1202, HBB:c.352C>T (Hb Tsukumi) 1203, HBB:c.352C>G (Hb North York) 1204, HBB:c.353A>G (Hb P-Galveston) 1205, HBB:c.353A>C (Hb Saitama) 1207, HBB:c.355T>G (Hb Sodertalje) 1208, HBB:c.356T>G (Hb Harrow) 1209, HBB:c.356T>A (Hb Minneapolis-Laos) 1210, HBB:c.359G>A (Hb Fannin-Lubbock I) 1211, HBB:c.359G>T (Hb Bougardirey-Mali) 1212, HBB:c.359G>C (Hb Iowa) 1213, HBB:c.361A>G (Hb Hijiyama) 1214, HBB:c.361A>C (Hb Takamatsu) 1215, HBB:c.362A>T (Hb Jianghua) 1216, HBB:c.363A>C (Hb Riyadh) 1217, HBB:c.364G>C (Hb D-Punjab) 1218, HBB:c.364G>A (Hb O-Arab) 1219, HBB:c.365A>C (Hb D-Neath) 1220, HBB:c.365A>G (Hb St. Francis) 1221, HBB:c.365A>T (Hb Beograd) 1222, HBB:c.367T>C | HBB:c.369C>A | HBB:c.369C>G (Hb Bushey) 1223, HBB:c.368T>C (Hb Caruaru) 1225, HBB:c.371C>A (Hb Ernz) 1226, HBB:c.371C>T (Hb Villejuif) 1227, HBB:c.373C>T (Hb Tunis) 1228, HBB:c.374C>A (Hb Ty Gard) 1229, HBB:c.374C>T (Hb Tende) 1230, HBB:c.374C>G (Hb Khartoum) 1231, HBB:c.379G>C (Hb Molfetta) 1233, HBB:c.380T>C (Hb Beirut) 1234, HBB:c.380T>A (Hb Hofu) 1235, HBB:c.380T>G (Hb Dhonburi) 1236, HBB:c.382C>A (Hb Brest) 1237, HBB:c.382C>G (Hb Complutense) 1241, HBB:c.385G>C (Hb Mont Saint Aignan) 1242, HBB:c.386C>T (Hb Sitia) 1243, HBB:c.386C>A (Hb J-Guantanamo) 1244, HBB:c.388G>C (Hb Crete) 1245, HBB:c.389C>T (Hb La Desirade) 1246, HBB:c.389C>A (Hb J-Taichung) 1248, HBB:c.391T>G (Hb Wien) 1249, HBB:c.392A>G (Hb Montfermeil) 1250, HBB:c.392A>C (Hb Nevers) 1251, HBB:c.394C>G (Hb Camden) 1252, HBB:c.394C>A (Hb Shelby) 1253, HBB:c.395A>G (Hb Sarrebourg) 1254, HBB:c.395A>C (Hb Shanghai) 1255, HBB:c.396G>C (Hb Silver Springs) 1256, HBB:c.397A>G (Hb Takasago) 1257, HBB:c.397A>C (Hb K Woolwich) 1258, HBB:c.398A>C (Hb Cook) 1259, HBB:c.399A>C | HBB:c.399A>T (Hb Yamagata) 1260, HBB:c.400G>C (Hb Extremadura) 1261, HBB:c.400G>A (Hb La Pommeraie) 1262, HBB:c.401T>C (Hb Renert) 1263, HBB:c.404T>C (Hb Yaounde) 1264, HBB:c.404T>A (Hb North Shore) 1265, HBB:c.406G>C (Hb Altdorf) 1266, HBB:c.407C>A (Hb Beckman) 1267, HBB:c.407C>T (Hb Alperton) 1268, HBB:c.409G>T (Hb Visayan) 1269, HBB:c.409G>A (Hb Perpignan) 1270, HBB:c.409G>C (Hb 'tlangeland) 1271, HBB:c.410G>C (Hb Petit Bourg) 1272, HBB:c.410G>A (Hb Hope) 1274, HBB:c.415G>C (Hb Brockton) 1275, HBB:c.415G>A (Hb Buzen) 1276, HBB:c.416C>T (Hb Cutlerville) 1277, HBB:c.418A>T (Hb Aurora) 1278, HBB:c.418A>G (Hb Geelong) 1279, HBB:c.[418A>T;415_417delGCT] (Hb Nijkerk) 1280, HBB:c.419A>C (Hb Sagami) 1281, HBB:c.420T>R (Hb Hinsdale) 1282, HBB:c.421G>A (Hb Saint-Jacques) 1283, HBB:c.422C>A (Hb Himeji) 1284, HBB:c.422C>T (Hb Puttelange) 1285, HBB:c.[424C>G;433A>T] (Hb Kochi) 1287, HBB:c.424_426delCTG (Hb Coventry) 1288, HBB:c.425_433delTGGCCCACA (Hb Birmingham) 1289, HBB:c.425T>G (Hb Olmsted) 1290, HBB:c.429_430delCC (Hb Uzes) 1291, HBB:c.427G>A (Hb Inglewood) 1292, HBB:c.427G>C (Hb Toyoake) 1293, HBB:c.428C>A (Hb Ohio) 1294, HBB:c.431delA (Hb Saverne) 1295, HBB:c.430C>G (Hb Rancho Mirage) 1296, HBB:c.430C>A (Hb Sapporo) 1297, HBB:c.430C>T (Hb Old Dominion/Burton-upon-Trent (OD/BuT)) 1298, HBB:c.431A>T (Hb Vancleave) 1299, HBB:c.431A>G (Hb Abruzzo) 1300, HBB:c.431A>C (Hb Syracuse) 1301, HBB:c.432C>A | HBB:c.432C>G (Hb Little Rock) 1302, HBB:c.434delA (Hb Trento) 1303, HBB:c.433A>G (Hb Mito) 1304, HBB:c.434A>T (Hb Barbizon) 1305, HBB:c.435G>C | HBB:c.435G>T (Hb Andrew-Minneapolis) 1306, HBB:c.436_437insCT (Hb Cranston) 1307, HBB:c.436T>A (Hb Osler) 1308, HBB:c.436T>C (Hb Bethesda) 1309, HBB:c.436T>G (Hb Nancy) 1310, HBB:c.437A>G (Hb Rainier) 1311, HBB:c.438T>A (Hb McKees Rocks) 1312, HBB:c.439C>G (Hb Hiroshima) 1313, HBB:c.439C>T (Hb Bologna-St.Orsola) 1314, HBB:c.440A>C (Hb York) 1315, HBB:c.440A>T (Hb Cowtown) 1316, HBB:c.440A>G (Hb Cochin-Port Royal) 1317, HBB:c.441C>G (Hb Kodaira II) 1318, HBB:c.441C>A (Hb Kodaira) 1319, HBB:c.440_441dupAC (Hb Tak) 1320, HBB:c.442_443dupTA (Hb Monplaisir) 1321, HBD:c.-130G>A (-80 (G>A)) 1322, HBD:c.-127T>C (-77 T>C) 1323, HBD:c.-126A>T (-76 (A>T)) 1324, HBD:c.-118C>T (-68 (C>T)) 1325, HBD:c.-115A>G (-65 (A>G)) 1326, HBD:c.-105T>C (-55 (T>C)) 1327, HBD:c.-86C>A (-36 (C>A)) 1328, HBD:c.-81A>G (-31 (A>G)) 1329, HBD:c.-80T>C (-30 T>C) 1330, HBD:c.3G>A (Init CD ATG>ATA [Met>Ile]) 1331, HBD:c.14C>T (CD 4 ACT>ATT [Thr>Ile]) 1332, HBD:c.82G>T (Hb A2-Yialousa) 1333, HBD:c.92G>C (CD 30 (AGG>ACG)) 1334, HBD:c.92+2T>C (IVS I-2 (T>C)) 1335, HBD:c.93-1G>C (IVS I-128 G>C) 1336, HBD:c.113G>A (CD 37 (TGG>TAG)) 1338, HBD:c.275dupT (CD 91 (+T)) 1339, HBD:c.295G>A (Hb A2-Wrens) 1340, HBD:c.315+1G>A (IVS II-1 G>A) 1341, HBD:c.315+6T>A (IVS II-6 (T>A)) 1342, HBD:c.316-5C>T (IVS II-894 C>T) 1343, HBD:c.316-2A>C (IVS II-897 A>C) 1346, HBD:c.*199G>A (Poly A +69 (G>A)) 1347, HBD:c.5T>C (Hb A2-Niigata) 1348, HBD:c.8A>T (Hb A2-Catania) 1349, HBD:c.8A>G (Hb A2-Sphakiá) 1350, HBD:c.14C>G (Hb A2-Acacias) 1351, HBD:c.23A>C (Hb A2-Udine) 1352, HBD:c.25A>G (Hb A2-Toranomon) 1353, HBD:c.35T>G (Hb A2-Pylos) 1354, HBD:c.39T>A (Hb A2-NYU) 1355, HBD:c.41C>A (Hb A2-MUMC) 1356, HBD:c.49G>C (Hb A2' or Hb B2) 1357, HBD:c.62T>A (Hb A2-Roosevelt) 1358, HBD:c.68C>A (Hb A2-Flatbush) 1359, HBD:c.74G>A (Hb A2-Victoria) 1360, HBD:c.77G>A (Hb A2-Yokoshima) 1361, HBD:c.81G>C (Hb A2-Puglia) 1363, HBD:c.110C>A (Hb A2-Metaponto) 1364, HBD:c.130G>A (Hb A2-Melbourne) 1365, HBD:c.131A>G (Hb A2-Agrinio) 1366, HBD:c.143A>T (Hb A2-Parkville) 1367, HBD:c.155C>G (Hb A2-Adria) 1368, HBD:c.174C>A (Hb A2-Campania) 1369, HBD:c.179A>T (Hb A2-North Africa) 1370, HBD:c.180G>C (Hb A2-Pasteur-Tunis) 1371, HBD:c.193G>A (Hb A2-Fogo) 1372, HBD:c.208G>C (Hb A2-Indonesia) 1373, HBD:c.212C>G (Hb A2-Ventimiglia) 1374, HBD:c.226C>G (Hb A2-Grovetown) 1375, HBD:c.251G>A (Hb A2-Nishishinbashi) 1376, HBD:c.257T>C (Hb A2-Etolia) 1377, HBD:c.262C>A (Hb A2-Montechiaro) 1378, HBD:c.265C>G (Hb A2-Lucania) 1379, HBD:c.272A>T (Hb A2-Honai) 1380, HBD:c.280T>G (Hb A2-Sant' Antioco) 1382, HBD:c.298G>A (Hb A2-Canada) 1383, HBD:c.315G>T (Hb A2-Capri) 1384, HBD:c.349C>T (Hb A2-Troodos) 1385, HBD:c.350G>A (Hb A2-Coburg) 1386, HBD:c.352A>G (Hb A2-Liangcheng) 1387, HBD:c.365A>T (Hb A2-Manzanares) 1388, HBD:c.376C>G (Hb A2-Zagreb) 1389, HBD:c.401T>C (Hb A2-Ninive) 1390, HBD:c.410G>A (Hb A2-Babinga) 1391, HBD:c.422C>T (Hb A2-Bagheria) 1392, HBD:c.425T>C (Hb A2-Pelendri) 1393, HBD:c.428C>A (Hb A2-Fitzroy) 1394, HBD:c.440A>G (Hb A2-Monreale) 1396, NG_000007.3:g.[63249_70661del;63571_70985dup] (Hb Parchman) 1397, NG_000007.3:g.63290_70702del (Hb Lepore-Hollandia) 1398, NG_000007.3:g.63564_70978del (Hb Lepore-Baltimore) 1399, NG_000007.3:g.63632_71046del (Hb Lepore-Boston-Washington) 1400, 1400 (Hb Lepore-Leiden) 1401, NG_000007.3:g.63249_70661dup (Hb Miyada) 1402, NG_000007.3:g.64557_71923dup (Hb P-Congo) 1403, NG_000007.3:g.63632_71046dup (Hb P-India) 1404, NG_000007.3:g.63160_70572dup (Hb Hong Kong) 1405, NG_000007.3:g.63461_70874dup (Hb P-Nilotic) 1406, HBG2:c.4G>T (Hb F-Malaysia) 1407, HBG2:c.17A>G (Hb F-Meinohama) 1408, HBG1:c.19G>A | HBG2:c.19G>A (Hb F-Texas-II) 1409, HBG2:c.22G>A (Hb F-Auckland) 1410, HBG2:c.25A>C | HBG2:c.25A>G (Hb F-Albaicin) 1411, HBG1:c.38C>A | HBG2:c.38C>A (Hb F-Alexandra) 1412, HBG2:c.38C>G (Hb F-Heather) 1413, HBG2:c.46T>C (Hb F-Catalonia) 1414, HBG2:c.49G>C (Hb F-Melbourne) 1415, HBG2:c.54G>C | HBG2:c.54G>T (Hb F-Clamart) 1416, HBG2:c.60T>A | HBG2:c.60T>G (Hb F-Ouled Rabah) 1417, HBG2:c.62T>C (Hb F-Bron) 1418, HBG2:c.64G>A (Hb F-Saskatoon) 1419, HBG2:c.64G>C (Hb F-Fuchu) 1420, HBG2:c.68A>T (Hb F-Granada) 1421, HBG2:c.68A>G (Hb F-Urumqi) 1422, HBG2:c.77G>A (Hb F-Cosenza) 1423, HBG2:c.79G>A (Hb F-Oakland) 1424, HBG2:c.103G>A (Hb F-Tokyo) 1425, HBG2:c.115A>C (Hb F-Bonheiden) 1426, HBG2:c.121A>G (Hb F-Veleta) 1427, HBG2:c.122G>A (Hb F-Austell) 1428, HBG2:c.125T>C (Hb F-Cincinnati) 1429, HBG2:c.133A>C (Hb F-Lodz) 1430, HBG2:c.167T>G (Hb F-Kingston) 1431, HBG2:c.178A>C (Hb F-Sacromonte) 1432, HBG2:c.178A>G (Hb F-Emirates) 1433, HBG2:c.190C>T (Hb F-M-Osaka) 1434, HBG2:c.198G>C | HBG2:c.198G>T (Hb F-Clarke) 1435, HBG2:c.199A>C (Hb F-Brooklyn) 1436, HBG2:c.200A>G (Hb F-Shanghai) 1437, HBG2:c.217G>C (Hb F-Minoo) 1438, HBG2:c.221A>C (Hb F-Joanopolis) 1439, HBG2:c.226A>G (Hb F-Coigneres) 1440, HBG2:c.227T>C (Hb F-Lesvos) 1441, HBG2:c.233A>G (Hb F-Kennestone) 1442, HBG2:c.238G>C (Hb F-Saint-Etienne) 1443, HBG2:c.241G>A (Hb F-Marietta) 1444, HBG2:c.241G>T (Hb F-Paulinia) 1445, HBG2:c.277C>T (Hb F-M-Fort Ripley) 1446, HBG2:c.283G>A (Hb F-Columbus-GA) 1447, HBG2:c.293A>G (Hb F-Lyon) 1448, HBG2:c.304G>C (Hb F-Zheijang) 1449, HBG2:c.304G>A (Hb F-La Grange) 1450, HBG2:c.308A>C (Hb F-Sarajevo) 1451, HBG2:c.315G>C (Hb F-Macedonia-II) 1452, HBG1:c.327T>A | HBG2:c.327T>A (Hb F-Ube) 1453, HBG2:c.353A>G (Hb F-Malta-I) 1454, HBG2:c.355T>C (Hb F-Calabria) 1455, HBG2:c.361A>C (Hb F-Caltech) 1456, HBG2:c.364G>A (Hb F-Carlton) 1457, HBG2:c.377A>C (Hb F-Port Royal) 1458, HBG2:c.391T>G (Hb F-Poole) 1459, HBG2:c.439C>T (Hb F-Onoda) 1460, HBG1:c.9T>G (Hb F-Macedonia-I) 1461, HBG1:c.16G>A (Hb F-Texas-I) 1462, HBG1:c.19G>C (Hb F-Pordenone) 1463, HBG1:c.20A>G (Hb F-Kotobuki) 1464, HBG1:c.38C>G (Hb F-Calluna) 1465, HBG1:c.67G>A (Hb F-Beni Khirane) 1466, HBG1:c.68A>G (Hb F-Kuala Lumpur) 1467, HBG1:c.70_72del (Hb F-Mauritius) 1468, HBG1:c.76G>C (Hb F-Xinjiang) 1469, HBG1:c.110C>G (Hb F-Pendergrass) 1470, HBG1:c.112T>G (Hb F-Cobb) 1471, HBG1:c.119A>G (Hb F-Bonaire-GA) 1472, HBG1:c.122G>A (Hb F-Woodstock) 1473, HBG1:c.130G>A (Hb F-Fukuyama) 1474, HBG1:c.161C>A (Hb F-Beech Island) 1475, HBG1:c.184A>G (Hb F-Jamaica) 1476, HBG1:c.217G>C (Hb F-Iwata) 1477, HBG1:c.220G>C (Hb F-Xin-Su) 1478, HBG1:c.220G>A (Hb F-Forest Park) 1479, HBG1:c.227T>C (Hb F-Sardinia (AgammaT)) 1480, HBG1:c.238G>A (Hb F-Dammam) 1481, HBG1:c.241G>A (Hb F-Yamaguchi) 1482, HBG1:c.241G>T (Hb F-Victoria Jubilee) 1483, HBG1:c.293A>G (Hb F-Dickinson) 1484, HBG1:c.358G>A (Hb F-Osilo) 1485, HBG1:c.364G>A (Hb F-Hull) 1487, HBG1:c.364G>C (Hb F-Campinas) 1488, HBG1:c.385G>A (Hb F-Baskent) 1489, HBG1:c.396G>T (Hb F-Oman) 1490, HBG1:c.403G>A (Hb F-Jiangsu) 1491, HBG1:c.409G>T (Hb F-Porto Torres) 1492, HBG1:c.410C>G (Hb F-Charlotte) 1497, NG_000007.3:g.57237_64443del7207 (Corfu (δ)0) 1498, NG_000007.3:g.48194_70985del (Hb Kenya) 1499, NC_000011.10:g.5153222_5238138delinsAAATA (Black) 1500, NC_000011.10:g.5158438_5242749del (Ghanaian) 1501, NC_000011.10:g.5194459_5244226del (Indian HPFH-3) 1502, 1502 (Italian 1) 1503, NC_000011.10:g.59893_72818del (Italian 2, Sicilian) 1504, NC_000011.10:g.5172745_5252029del (SE Asian, Thai (Aγδβ)0) 1505, NC_000011.10:g.5201647_5229059del (South East Asian (SEA) deletion) 1506, NC_000011.10:g.5214461_5247124del (Indian (δβ)0) 1507, NG_000007.3:g.64336_77738del (Sicilian (δβ)0) 1508, NC_000011.10:g.5132468_5246133del (Japanese (δβ)0) 1509, NC_000011.10:g.5144331_5237241del (Spanish (δβ)0) 1510, NG_000007.3:g.(60530_60730)_(72351_72551)del11822 (Black (δβ)0) 1511, NG_000007.3:g.61566_70708del (East European (δβ)0) 1512, NG_000007.3:g.(64336_64524)_76866del (Laotian (δβ)0) 1513, NG_000007.3:g.64384_76993del (Thai/Vietnamese (δβ)0) 1514, 1514 (Macedonian/Turkish (δβ)0) 1515, 1515 (Turkish (δβ)0) 1516, NG_000007.3:g.(59658_64667)_(72019_81668)del (Leiden 7.4 kb (δβ)0) 1517, NG_000007.3:g.60045_71313delinsTACATTAAGAGATACCTTAATG (Thai 11.3 (δβ)0) 1518, NG_000007.3:g.52036_78987del (Japanese 2 (δβ)0) 1519, 1519 (Indian (Aγδβ)0 (inv)) 1520, NC_000011.10:g.(5197976_ 5198976)_(5251297_5251694)del (German (Aγδβ)0) 1521, 1521 (Cantonese (Aγδβ)0) 1522, 1522 (Malaysian-1 (Aγδβ)0) 1523, NC_000011.10:g.(5207467_5208467)_(5250061_5250240)del (Malaysian-2 (Aγδβ)0) 1524, NG_000007.3:g.45410_81665del36256 (Turkish (Aγδβ)0) 1525, NC_000011.10:g.(5200077_5215844)_(5249806_5251160)del (Belgian (Aγδβ)0) 1526, NC_000011.10:g.5212727_5248576del (Black (Aγδβ)0) 1527, NC_000011.10:g.5169918_5248821del (Chinese (Aγδβ)0) 1528, NC_000011.10:g.5182845_5249973del (Yunnanese (Aγδβ)0) 1530, NC_000011.10:g.5194458_5249516del (Italian (Aγδβ)0) 1531, NC_000011.10:g.5196589_5251715delinsTA (Canadian (Aγδβ)0) 1532, NC_000011.10:g.(5167906_5178684)_(5248184_5251232)del (Leiden 69.5) 1533, NC_000011.10:g.5201244_5250542del (49.3 kb Gγ(Aγδβ)0 Asian del) 1534, NC_000011.8:g.5204501_5300223del (Anglo-Saxon (εγδβ)0) 1535, NC_000011.8:g.5110112_5312961del (Irish (εγδβ)0) 1536, 1536 (Canadian (εγδβ)0) 1537, 1537 (Scottish - Irish) 1538, 1538 (English I (εγδβ)0) 1539, 1539 (Mexican (εγδβ)0) 1540, NC_000011.10:g.5279573_5319355del (Hispanic (εγδβ)0) 1541, NC_000011.10:g.(5151491_5158092)_(5285862_5295096)del (Croatian (εγδβ)0) 1542, NC_000011.10:g.5229432_5329263del (Dutch I (εγδβ)0) 1543, NC_000011.10:g.5262849_5360616del (English II) 1544, 1544 (English III) 1545, NC_000011.10:g.5156866_5595894del (English IV) 1546, 1546 (Chilean) 1547, NC_000011.10:g.(?_4999945)_(5409809_5430440)del (Dutch II) 1548, NC_000011.10:g.5248950_5360936delinsGGGAGACTGATATA (Dutch III) 1549, NC_000011.10:g.(5245669_5248365)_(5440251_5470849)del (Dutch IV) 1550, NC_000011.10:g.(5269965_5275919)_(5409809_5430375)del (Dutch V) 1551, NC_000011.10:g.(?_5227218)_(5373082_5382848)del (Dutch VI) 1552, NC_000011.10:g.4600605_6019332delinsCACTTGGTTATGATGTATT (Japanese) 1553, 1553 (French) 1554, HBG2:c.-620T>G (-567 T>G) 1555, HBG2:c.-255C>G (-202 C>G) 1556, HBG2:c.-253dup (-200 +C) 1557, HBG2:c.-249C>T (-196 C>T) 1558, HBG2:c.-228T>C (-175 T>C) 1559, HBG2:c.-167C>G (-114 C>G) 1560, HBG2:c.-167C>A (-114 C>A) 1561, HBG2:c.-167C>T (-114 C>T) 1562, HBG2:c.-163A>C (-110 A>C) 1563, HBG2:c.-162G>T (-109 G>T) 1564, HBG2:c.-90A>T (-37 A>T) 1565, HBG1:c.-264C>T (-211 C>T) 1566, HBG1:c.-255C>T (-202 C>T) 1567, HBG1:c.-254C>T (-201 C>T) 1568, HBG1:c.-251T>C (-198 T>C) 1569, HBG1:c.-249C>T (-196 C>T) 1570, HBG1:c.-248C>G (-195 C>G) 1571, HBG1:c.-228T>C (-175 T>C) 1572, HBG1:c.-211C>T (-158 C>T) 1573, HBG1:c.-170G>A (-117 G>A) 1574, HBG1:c.-167_-155delCAATAGCCTTGAC (-114 to -102) 1575, HBG1:c.-167C>T (-114 C>T) 2023, HBA2:c.353T>C (Hb Foggia) 2024, HBB:c.430delC (Hb Montreal II) 2036, NG_000007.3:g.70076C>T (-487 T>C) 2037, NG_000007.3:g.70205C>T (-300 C>T) 2039, NG_000007.3:g.70491G>A (-54 G>A) 2041, NG_000007.3:g.70603T>C (CD 2 CAC>CAT [His>His]) 2044, NG_000007.3:g.70684C>G (CD 29 GGC>GGG [Gly>Gly]) 2045, NG_000007.3:g.70702A>C (IVS I-16 A>C) 2046, HBB:c.93-40C>T (IVS I-91 C>T) 2047, NG_000007.3:g.70779G>A (IVS I-93 G>A) 2048, NG_000007.3:g.70832C>T (CD 35 TAC>TAT [Tyr>Tyr]) 2049, NG_000007.3:g.70877T>A (CD 50 ACT>ACA [Thr>Thr]) 2050, HBB:c.180G>A (CD 59 AAG>AAA [Lys>Lys]) 2051, NG_000007.3:g.70991G>C (CD 88 CTG>CTC [Leu>Leu]) 2053, NG_000007.3:g.71065T>G (IVS II-26 T>G) 2054, HBB:c.315+74T>G (IVS II-74 T>G) 2055, NG_000007.3:g.71299A>G (IVS II-260 A>G) 2056, HBB:c.316-185C>T (IVS II-666 (C>T)) 2058, NG_000007.3:g.71943C>T (CD 122 TTT>TTC [Phe>Phe]) 2059, NG_000007.3:g.71994T>C (CD 139 AAT>AAC [Asn>Asn]) 2060, NG_000007.3:g.72022C>T (3'UTR +4 C>T) 2061, NG_000007.3:g.72085C>T (3'UTR +67 G>T) 2063, HBB:c.*104G>A (3'UTR +104 G>A) 2064, NG_000007.3:g.72153T>A (TTS +1 T>A) 2065, NG_011968.1:g.65388G>A (rs11886868) 2066, NG_011968.1:g.64683T>C (rs4671393) 2067, NG_011968.1:g.64287C>T (rs7557939) 2068, NG_011968.1:g.77037G>A (rs6732518) 2069, NG_011968.1:g.72399T>C (rs10189857) 2070, NG_011968.1:g.67287G>A (rs7599488) 2071, NG_011968.1:g.67591A>C (rs1427407) 2072, NG_011968.1:g.65664G>T (rs766432) 2073, NG_011968.1:g.56340C>T (rs10184550) 2074, NG_011968.1:g.60183C>G (rs7606173) 2075, NG_011968.1:g.63594G>A (rs6706648) 2076, NG_013087.1:g.6133_6143delGAAGTCTGAGG (CD 54-57 (-11bp): (-GAAGTCTGAGG)) 2077, NG_013087.1:g.6875C>T (CD 301 CGC>TGC [Arg>Cys]) 2078, NG_013087.1:g.6876G>A (CD 301 CGC>CAC [Arg>His]) 2079, NG_013087.1:g.7169G>T (CD 313 (TGG>TGT)) 2080, NG_013087.1:g.7213G>A (CD 328 (CGC>CAC)) 2081, NG_013087.1:g.7213G>T (CD 328 (CGC>CTC)) 2082, NG_013087.1:g.7231C>A (CD 334 (ACG>AAG)) 2083, NG_013087.1:g.6888G>A (IVS II-1 (G>A)) 2084, NG_013087.1:g.6126T>G (CD 51 (CTC>CGC)) 2085, NG_013087.1:g.6493_6499dupCGGCGCC (CD 175/176 (+7bp): (+CGGCGCC)) 2086, NG_013087.1:g.7231C>G (CD 334 (ACG>AGG)) 2087, NG_013087.1:g.7140_7143delCTAG (IVS II-252_255 (-4bp): (-CTAG)) 2088, NG_013087.1:g.6836A>T (CD 288 (AAG>TAG)) 2090, HBD:c.92+5G>T (IVS I-5 G>T) 2092, NG_000007.3:g.63557A>T (CD 82 AAG>TAG) 2093, NG_011968.1:g.70773T>G (rs6545816) 2094, NG_012002.1:g.4828A>C (rs28384513) 2095, NC_000006.12:g.135097778A>G (rs7776054) 2096, NC_000006.12:g.135097880T>C (rs9399137) 2097, NC_000006.12:g.135097497C>T (rs7775698) 2098, NC_000006.12:g.135098493A>G (rs9389268) 2099, NC_000006.12:g.135105435A>G (rs4895441) 2100, NC_000006.12:g.135132889C>A (rs6929404) 2101, NC_000006.12:g.135106679G>A (rs9402686) 2102, NC_000006.12:g.135122074A>G (rs1320963) 2103, NC_000006.12:g.135061842T>G (rs6904897) 2104, NC_000006.12:g.135103041C>G (rs35959442) 2105, NC_000006.12:g.135090090T>C (rs9376090) 2106, NC_000006.12:g.135105420A>T (rs4895440) 2109, NC_000006.12:g.135098550T>C (rs9402685) 2110, NC_000006.12:g.135101158A>T (rs11759553) 2111, NC_000006.12:g.135130426T>A (rs6934903) 2112, NC_000006.12:g.135107536A>G (rs114398597) 2113, NG_016419.1:g.49197C>T (rs6530488) 2114, NG_007563.1:g.115072G>A (IVS XII-9251 G>A) 2115, NG_007563.2:g.133649C>T (rs16981804) 2116, NC_000023.11:g.25718363A>G (rs6630120) 2117, NG_011970.1:g.40474G>A (rs6037828) 2118, NG_016387.1:g.6517A>G (rs4969555) 2119, NC_000017.11:g.9795025G>A (rs12103880) 2120, NG_023030.1:g.4613A>T (-495 (A>T)) 2122, NG_000007.3:g.70360_70485del125 (125 bp deletion) 2123, NG_000007.3:g.71550_79270del7719 (7719 bp deletion) 2124, NC_000011.10:g.5201455_5229279delins5223936_5223960 (Caucasian HPFH) 2125, NG_000007:g.70067_70976del (Afghan) 2127, NG_000007.3:g.42677C>T (-158 C>T) 2128, NG_000007.3:g.55163G>A (rs10128556) 2129, NG_023386.1:g.16553C>T (rs708564) 2130, NG_023386.1:g.19251T>C (rs2237863) 2131, NG_013087.1:g.6783C>A (CD 270 (TCG>TAG)) 2132, NG_013087.1:g.7203G>A (CD 325 GAG>AAG [Glu>Lys]) 2133, NG_011967.1:g.11702C>G (rs10494225) 2134, NG_011994.1:g.47849C>G (rs2327669) 2135, NG_011994.1:g.185472C>T (rs11154849) 2136, NG_011994.1:g.191613A>C (rs9376173) 2137, NG_011994.1:g.331695C>T (rs1480642) 2138, NG_011994.1:g.333995G>A (IVS X-1549 A>G) 2139, NG_011993.1:g.311720T>C (rs2693430) 2140, NG_011993.1:g.245865A>G (rs765587) 2141, NG_011993.1:g.187938C>T (rs12155519) 2142, NG_011993.1:g.89345G>A (rs9693712) 2143, NG_011993.1:g.54236G>C (rs380620) 2144, NG_011991.2:g.75309G>A (rs7309163) 2145, NG_011991.2:g.74243C>T (rs7977109) 2146, NG_012003.1:g.115311G>T (rs3751395) 2147, NG_012003.1:g.100645C>T (rs9319428) 2148, NG_012003.1:g.87205T>C (rs2182008) 2149, NG_000007.3:g.42946_70654del (Hb Ulsan) 2150, NG_000007.3:g.69997_71353del1357 (1357 bp deletion) 2153, NG_000007.3:g.70417_72458delinsATAAG (Kabylia deletion/insertion) 2154, NG_000007.3:g.[61399_61400insC; 61402_81144del] (French deletion/insertion) 2155, NG_000007.3:g.57155_80887delinsCAGCAGGAAAGTGAGAAG (French West-Indies deletion/insertion) 2156, NG_000007.3:g.57141_81002del; 81008delA (Algerian HPFH deletion) 2157, NG_000007.3:g.67357_71413del (Indian) 2158, NC_000011.10:g.5194461_5700474delins[250inv] (Pakistani I) 2159, 2159 ((εγδβ)0 with α triplication) 2160, NG_012003.1:g.83838A>G (rs2387634) 2161, NG_000007.3:g.7751_18905delins[13569_13579inv;13364_13549inv] (French (εγδβ)0 insertion/deletion) 2162, NG_012003.1:g.76866C>T (rs8002446) 2163, NC_000011.10:g.5228098_5358569del (Norwegian (εγδβ)0) 2164, NG_000007.3:g.10054_21931del (Tennessean (εγδβ)0) 2165, NG_000007.3:g.2904_25432del (Puerto Rican (εγδβ)0) 2166, NG_011991.2:g.149452G>C (rs816361) 2167, 2167 (Asian Indian (εγδβ)0) 2168, NG_011993.1:g.78627T>C (rs172652) 2169, NG_011993.1:g.297855C>T (rs826729) 2170, NG_011470.1:g.26624C>T (rs1137933) 2171, HBB:c.-121C>T (-71 C>T) 2172, HBB:c.-91A>C (-41 A>C) 2173, HBB:c.93-22delT (IVS I-109 (-T)) 2174, HBB:c.74delG (CD 24 -G) 2175, HBB:c.-76A>C (-26 A>C) 2176, HBB:c.-12C>T (CAP +39 C>T) 2177, HBB:c.*32A>C (3'UTR +32 A>C) 2178, HBB:c.-138C>G (-88 C>G) 2179, HBB:c.-80T>G (-30 T>G) 2180, HBB:c.18_19delTG (CD 5/6 -TG) 2181, HBB:c.219dupT (CD 72/73 (+T)) 2182, HBB:c.315+2_315+13delTGAGTCTATGGG (IVS II-2 -TGAGTCTATGGG) 2183, HBB:c.316-70C>G (IVS II-781 C>G) 2184, HBB:c.20_45del26bp (CD 6-14 (-26 bp)) 2185, HBB:c.27_28insAGAA (CD 8/9 +AGAA) 2187, HBB:c.146delT (CD 48 -T) 2188, HBB:c.201delA (CD 66 -A) 2189, HBB:c.210delT (CD 69 -T) 2190, HBB:c.187_251dup (CD 62-83 (+65 bp)) 2191, HBB:c.323_334del (CD 107-111 (-12 bp): (-GCAACGTGCTGG)) 2192, HBB:c.339_345dupTGTGCTG (CD 114/115 (+TGTGCTG)) 2193, HBB:c.354delC (CD 117 -C) 2194, HBB:c.375dupA (CD 124/125 (+A)) 2195, HBB:c.377_382delCAGTGC (CD 125-127 (-CAGTGC)) 2196, HBB:c.393T>A (CD 130 TAT>TAA [Tyr>STOP]) 2197, HBB:c.395dupA (CD 131 (+A)) 2198, HBB:c.*112A>T (Poly A (A>T) AATAAA>AATATA) 2200, HBB:c.316-98_316-86dup (IVS II-765 L1 insertion (+CTGCTTTTATTTT)) 2201, HBD:c.323G>A (Hb A2-Tianhe) 2202, HBD:c.-1G>A (CAP +53 (G>A)) 2203, HBA1:c.-9G>C (CAP +29 (G>C)) 2204, HBA1:c.95+4A>G (IVS I-4 A>G) 2205, HBA1:c.62_63insT (CD 20 +T) 2206, HBA2:c.27delC (CD 8 (-C)) 2207, HBA2:c.66dupT (CD 21/22 +T) 2208, HBA2:c.75T>G (CD 24 TAT>TAG) 2209, HBA2:c.98T>G (Hb Rotterdam) 2210, HBA2:c.94A>C (CD 31 AGG>CGG [Arg>Arg]) 2211, HBA2:c.114delC (CD 37 CCC>CC-) 2212, HBA1:c.95+45G>C (IVS I-45 G>C) 2214, HBA2:c.131delT (CD 43 TTC>T-C) 2215, HBA2:c.132delC (CD 43/44 -C) 2216, HBA2:c.143delA (CD 47 -A) 2217, HBA2:c.156_157insG (CD 51/52 +G) 2218, HBA2:c.190_231del (CD 63-76 (-42 bp)) 2219, HBA2:c.244delT (CD 81 -T) 2220, HBA2:c.305T>C (Hb Bishopstown) 2221, HBA2:c.349_359delGAGTTCACCCC (CD 115 -GAGTTCACCCC [166 aa]) 2222, HBA1:c.301-3C>G (IVS II-147 C>G) 2224, HBA1:c.333_345delCGCCCACCTCCCC (CD 110-114 (-13 bp)) 2225, HBA1:c.*96G>A (Poly A (G>A) AATAAAG>AATAAAA) 2226, HBA2:c.*46C>A (3'UTR +46 C>A) 2227, NG_011965.1:g.13257G>A (rs9483947) 2228, HBA2:c.*107A>G (3'UTR +107 A>G) 2229, NG_011965.1:g.16292G>T (rs9376230) 2230, NG_000006.1:g.34478_38288del (-α3.7 (type II)) 2231, NG_000006.1:g.34570_38381del (-α3.7 (type III)) 2232, NG_000006.1:g.9079_36718del27640 (-α27.6) 2233, 2233 (-ζ) 2234, NG_000006.1:g.(19842_19845)_(36479_36486)delins22446_24085inv (-α16.6) 2235, NG_000006.1:g.36599_37568delinsTAG (α-αΔ970) 2236, NG_000006.1:g.7622_41156del (--DUTCH I) 2237, NG_000006.1:g.32143_40317delinsCTCCCTGGACAAGT (--AW) 2238, NC_000016.10:g.47749_179374del (--BGS) 2239, NC_000016.10:g.(8635_8924)_(39835_40133)del (--CAMPANIA) 2240, NC_000016.10:g.156188_184103del (--FIL-2) 2241, NC_000016.10:g.(110582_113386)_(187266_188773)del (--ED) 2242, NC_000016.10:g.(43803_47123)_(187266_188649)del (--GP) 2243, 2243 ((αα)AS) 2244, NC_000016.10:48642_132584del ((αα)JM) 2245, NC_000016.10:g.(?_53322)_(141396_143702)del ((αα)MM) 2246, NC_000016.10:g.(?_55799)_(152345_162796)del ((αα)L) 2247, 2247 ((αα)SN) 2248, NC_000016.10:g.(93618_93635)_(141631_141648)del ((αα)Sco) 2249, NC_000016.10:g. 90778_106773del ((αα)ZW) 2250, 2250 ((αα)RSR) 2251, 2251 ((αα)MCu) 2252, NC_000016.10:g.11555_229482del (--BR) 2253, NC_000016.10:g.11555_229482del (--ZW) 2254, 2254 (--JY) 2255, 2255 (--LC) 2256, 2256 (--VR) 2257, NC_000016.10:g.(44035_44092)_(312033_312090)del (--JT) 2258, NC_000016.10:g.(?_55799)_(360870_410354)del (--AB) 2259, NC_000016.10:g.(?_53322)_(879639_910965)del (--GZ) 2260, NC_000016.10:g.(?_55799)_(284538_298092)del (Dutch II) 2261, NC_000016.10:g.(113696_130566)_(298093_ 331093)del (--MK) 2262, 2262 (--80) 2263, NC_000016.10:g.174046_192396del (α-ZF) 2264, NC_000016.10:g.(?_55799)_(986613_1063737)del (--Brazil) 2265, NC_000016.10:g.(?_55799)_(1625950_1740473)del (--PV) 2266, NC_000016.10:g.(?_55799)_(1923864_ 1939057)del (--HN) 2267, NC_000016.10:g.(?_55799)_(1857769_1890275)del (--FT) 2268, NC_000016.10:g.0_772369del (--BA) 2269, NC_000016.10:g.0_976709del (--TN) 2270, NC_000016.10:g.0_1896761del (--BO) 2271, NC_000016.10:g.0_2021644del (--IM) 2272, NC_000016.10:g.0_2023655del (--LIN) 2273, 2273 (--GS) 2274, NG_011964.1:g.35428C>A (rs10483801) 2275, NG_011964.1:g.35843T>C (rs10483802) 2276, NG_011470.1:g.22985G>A (rs944725) 2277, NG_013087.1:g.7224A>C (CD 332 (AAA>CAA)) 2278, NG_013087.1:g.6877_6878insGCGC (CD 302 (+4bp): (+GCGC)) 2279, HBB:c.308insTC (CD 102 AAC>ATCAC) 2280, HBB:c.116C>G (CD 38 ACC>AGC) 2281, HBA2: c.251T>G (Hb Ahvaz) 2282, HBB:c.420dupT (Hb Boston-Kuwait) 2283, NC_000011.10:g.5164564_5230714del (South-Italy) 2284, HBB:c.424C>G (Hb Aurillac) 2285, HBA1:c.62A>C (Hb Fulton-Georgia) 2286, NT_010393.16:g.31478982A>G (-473 (A>G)) 2287, NT_010393.16:g.31479059delTTT (-126 (-TTT)) 2288, NT_010393.16:g.31479386G>A (IVS I-103 (G>A)) 2289, NT_010393.16:g.31479430G>A (IVS I-146 (G>A)) 2290, NT_010393.16:g.31479934G>T (CD 77 CTG>CTT) 2291, NT_010393.16:g.31479870T>G (CD 56 GTG > GGG) 2292, HBD:c.60C>A (Hb Famagusta) 2293, NG_013087.1:g.7207G>T (CD 326 (GAG>AAG)) 2294, NG_013087.1:g.7210C>G (CD 327 (ACC>AGC)) 2296, NG_013087.1:g.7184dupG (CD 319 (+1bp): (+G)) 2297, HBB:c.428C>T (Hb Waterland) 2298, HBB:c.53A>T (Hb Ede) 2299, HBD:c.38A>C (Hb A2-Rotterdam) 2300, HBG2:c.-250c>T (-197 C>T) 2301, HBG1:c.-250C>T (-197 C>T) 2302, HBG1:c.-166A>G (-113 A>G) 2303, HBA1:c.301C>T (Hb Weesp) 2304, HBA2:c.308G>A (Hb Enschede) 2305, HBA1:c.302T>C (Hb Corsica) 2306, HBA2:c.4G>C (Hb St. Josef) 2307, HBB:c.241A>C (Hb East Timor) 2308, HBA2:c.264C>G (Hb Lansing) 2309, HBD:c.244C>T (Hb A2-St. George's) 2310, HBA1:c.88C>G (Hb Kosovo) 2311, HBA2: c.274C>T (Hb Treviso) 2312, HBA1:c.214G>A | HBA2:c.214G>A (Hb Hatfield) 2313, HBA1:c.86C>T (Hb Nedlands) 2314, HBA1:c.151C>T | HBA2:c.151C>T (Hb South Yorkshire) 2315, HBA1:c.332C>T (Hb Montluel) 2316, NM_000558.5(HBA1):c.343C>G (Hb Broomhill) 2317, HBA1:c.63C>A (Hb Brugg) 2318, HBA1:c.205A>T | HBA2:c.205A>T (Hb Chelmsford) 2319, HBA1:c.115A>G | HBA2:c.115A>G (Hb Beaconsfield) 2320, HBD:c.120G>C (Hb A2-Lyon) 2321, HBB:c.17C>T (Hb Aix-les-Bains) 2322, HBA1:c.347C>T (Hb Palmela) 2323, HBA1:c.397G>A (Hb Portimão) 2324, HBD:c.224G>A (Hb A2-Asti) 2325, HBD:c.24G>C (Hb A2-Pordenone) 2326, HBB:c.13A>C (Hb Benin City) 2327, HBB:c.10C>A (Hb Niguarda) 2328, HBD:c.7C>A (Hb A2-Calderdale) 2329, HBD:c.157G>C (Hb A2-Walsgrave) 2330, HBB:c.69A>T (Hb Bury) 2331, HBB:c.106T>C (Hb Fulwood) 2332, HBB:c.128T>G (Hb Little Venice) 2333, HBB:c.173A>G (Hb Cork) 2334, HBB:c.356T>C (Hb Basingstoke) 2335, HBA2:c.212T>G (Hb Edinburgh) 2336, HBA1:c.259C>G (CD 86 CTG>GTG [Leu>Val]) 2337, HBA2:c.350A>T (Hb Walsgrave) 2338, HBA2:c.382A>G (Hb Coombe Park) 2340, HBA1:c.315C>G (Hb Donnington) 2341, NG_013087.1:g.6146C>T (CD 58 (CAG>TAG)) 2343, NG_013087.1:g.7221C>T (CD 331 (CGG>TGG)) 2344, NG_013087.1:g.7233G>A (CD 335 GGG>AGG) 2345, NG_013087.1:g.6866G>C (CD 298 (GCG>CCG)) 2346, NG_013087.1:g.4910C>T (-154 C>T) 2347, HBA1:c.189delG (CD 62 -G) 2348, HBA2:c.44G>T (CD 14 TGG>TTG [Trp>Leu]) 2349, HBD:c.434A>C (Hb A2-San Floro) 2350, HBA2:c.292A>G (Hb Cheektowaga) 2351, HBA2:c.65C>T (Hb Venetia) 2352, HBA1:c.9_10insCTG (Hb Pittsburgh) 2353, HBA1:c.55G>T (Hb Lima) 2354, HBD:c.272A>G (Hb A2-India) 2355, HBA2:c.257A>G (Hb Benton) 2356, HBA2:c.368A>T (Hb Dubai) 2357, HBA1:c.289G>C (Hb Woodstock) 2358, HBA1:c.215C>T (Hb Allison Park) 2359, HBB:c.11T>C (Hb Jabalpur) 2360, HBA2:c.337C>T (Hb Kansas City) 2361, HBA2:c.8T>C (Hb Kaiser West End) 2362, HBA2:c.191C>T (Hb Nakhon Ratchsima) 2363, HBD:c.359G>A (Hb A2-Lewisburg) 2364, HBB:c.433A>T (Hb Cambridge-MA) 2365, HBA1:c.46G>T (Hb St. Rose) 2366, HBA2:c.337C>A (Hb Royal Oak) 2367, HBA2:c.265G>A (Hb Voorhees) 2368, HBA2:c.71A>C (Hb Dayton) 2369, HBA2:c.346_348delGCC (Hb Towson) 2370, HBA2:c.300G>C (Hb Fulton) 2371, HBA2:c.11C>G (Hb Teterboro) 2372, HBA2:c.259C>G (Hb Ridgewood) 2373, HBA2:c.112C>T (Hb Boskoop) 2374, HBB:c.49G>T (Hb Whitmire) 2375, HBA2:c.289G>A (Hb El Salvador) 2376, HBA2:c.140T>C (Hb Lake Tapawingo) 2377, HBA1:c.339C>A (Hb West Allis) 2378, HBD:c.19G>C (Hb A2-Ramallah) 2379, HBB:c.[20A>T ;317T>C] (Hb S-San Martin) 2380, HBA1:c.44G>T (Hb Basel) 2381, HBA1:c.98T>A (Hb Queens Park) 2382, HBB:c.24G>T (Hb Stockholm) 2383, HBA2:c.22A>C (Hb J-Brainerd) 2384, HBA2:c.23A>C (Hb Nayarit) 2385, HBA1:c.128A>C (Hb Erzeroum) 2386, HBA1:c.40G>A (Hb Olivet) 2387, HBB:c.[202G>A ;126C>G] (Hb Brevedent) 2388, HBA2:c.271A>C (Hb Bergerac) 2389, HBB:c.404T>G (Hb Olupona) 2390, HBA2:c.270C>G (Hb Enfield) 2391, HBB:c.241A>G (Hb Valley Park) 2392, HBD:c.430C>T (Hb Noah Mehmet Oeztuerk) 2393, HBB:c.119delA (CD 39 -A) 2394, HBG2:c.440A>G (Hb F-Istambul) 2395, HBG2:c.280T>C (Hb F-Monserrato-Sassari) 2396, HBG1:c.365A>T (Hb F-Salamanque) 2397, HBA1:p.[Gln55His] | HBA2:p.[Gln55His] (Hb Princes Risborough) 2398, HBA1:c.258C>A | HBA1:c.258C>G | HBA2:c.258C>A | HBA2:c.258C>G (Hb Aylesbury) 2399, HBB:c.301C>A (Hb Bellevue II) 2400, HBB:c.22G>C (Hb Vellore) 2401, HBB:c.218G>C (Hb Phimai) 2402, HBA1:c.95G>C (Hb Mao) 2403, HBB:c.81G>Y (Hb Marijampolė) 2404, HBB:c.317T>C (Hb Bellevue IV) 2405, HBB:c.232C>A (Hb Heilbronn) 2406, HBB:c.313A>G (Hb Nîmes) 2407, HBB:c.149_167delinsAGCT (Hb Martinez) 2408, HBA1:c.380A>C (Hb Verdun) 2409, HBA2:c.178G>A (Hb Parma) 2410, HBB:c.358G>C (Hb Angouleme) 2411, HBB:c.314G>T (Hb Bad Salzuflen) 2412, HBB:c.301C>T (Hb Niort) 2413, HBB:c.295G>C (Hb Phou Bia) 2414, HBA1:c.377T>C (Hb Quong Sze II) 2415, HBG1:c.275T>G (Hb F-Moyen-Orient) 2416, HBA1:c.299A>T (CD 99 AAG>ATG [Lys>Met]) 2417, HBA1:c.164A>G (Hb Shimonoseki) 2418, NC_000011.10:g.(4002734_4002784)_ (6907712_6907762)del (Swiss (εγδβ)0) 2419, NG_000007.3:g.(63154_63209)_(70570_70625)del7417 (Senegalese δ(0)β(+)) 2420, HBA2:c.313T>C (Hb Iberia) 2421, HBD:c.430C>G (Hb A2-Leuven) 2422, HBB:c.235C>G (Hb Ullevaal) 2423, HBA1:c.157T>G | HBA2:c.157T>G (Hb Cheshire) 2424, HBA2:c.299A>G (Hb Papanui) 2425, HBD:c.140G>A (Hb A2-Tunis) 2426, HBD:c.151T>A (Hb A2-Konz) 2427, HBG2:c.124T>C (Hb F-Avellino) 2428, HBG2:c.112T>G (Hb F-Cobb II) 2429, HBA1:c.188T>C (CD 62 GTG>GCG [Val>Ala]) 2430, NG_000006.1:g.34305_34507del203 (203 bp deletion) 2432, HBB:c.305A>T (Hb Belfort) 2433, HBA2:c.40_45delGCCTGG (Hb Souli) 2434, HBB:c.337T>G (Hb Saint-Marcellin) 2435, HBG2:c.202G>A (Hb Toms River) 2436, HBA2:c.323delT (Hb Lynwood) 2437, HBD:c.89G>A (Hb A2-Hong Kong) 2438, HBA2:c.69_77delCGAGTATGG (Hb Zhanjiang) 2440, HBB:c.[20A>T ;196A>G] (Hb S-Sao Paulo) 2441, HBB:c.282T>G (Hb Santa Giusta Sardegna) 2442, HBB:c.281G>C (Hb Riesa) 2443, HBB:c.244C>T (Hb Seville) 2444, HBA1:c.374C>T | HBA2:c.374C>T (Hb Batley) 2445, HBB:c.241_243delAAC (Hb Saint-Chamond) 2446, HBA2:c.256G>C (Hb Canuts II) 2447, HBD:c.[67G>A; 68C>A] (Hb A2-Marseille) 2448, HBD:c.44T>C (Hb A2-Saint-Etienne) 2449, HBG2:c.4G>A (Hb F-Montchat) 2450, HBG2:c.410G>A (Hb F-Privas) 2451, HBA1:c.96-2A>G (IVS I-116 A>G) 2452, HBB:c.76G>A (Hb Brazzaville) 2453, HBG1:c.377A>C (Hb F-Port Royal II) 2454, HBB:c.260C>T (Hb Izmir) 2455, HBA1:c.194A>C (Hb Lucan) 2456, HBB:c.191A>T (Hb Temple Street) 2457, HBA2:c.371C>T (Hb Pressath) 2458, HBA2:c.154G>A (Hb Riccarton II) 2459, HBG2:c.317T>A (Hb F-Brugine/Feldkirch) 2460, HBA2:c.2T>G (Init CD ATG>AGG [Met>Arg]) 2461, HBB:c.127T>A (Hb Oslo) 2462, HBB:c.216delT (CD 71 -T) 2463, HBB:c.*233G>C (TTS +99 G>C) 2464, HBB:c.48G>Y (Hb Garston) 2465, HBA2:c.60delG (CD 19 GCG>GC-) 2466, HBA2:c.298A>C (Hb Burkina Fassa) 2467, HBA1:c.298A>T (CD 99 AAG>TAG) 2468, HBA1:c.134_135insC (CD 44 +C) 2469, HBA2:c.22A>T (CD 7 AAG>TAG) 2470, HBA2:c.274C>A (Hb Zara) 2471, HBG2:c.194G>A (Hb F-Turritana) 2472, HBA1:c.164A>C | HBA2:c.164A>C (Hb Dhaka) 2473, HBD:c.316-2A>G (IVS II-897 A>G) 2474, HBA2:c.177C>G (Hb Flurlingen) 2475, NG_000006.1:g.[14373_36299del21927; insGGGAAGGGTGGGTGGGAATAACAGCTTTT] (21.9 kb deletion with 29 bp insertion) 2476, HBD:c.271G>A (Hb A2-Canebière) 2477, HBD:c.239A>G (Hb A2-Turkish) 2478, HBB:c.[220G>T ;221A>T] (Hb Meylan) 2479, NG_000007.3:g.11835_13826del (Toledo) 2480, HBA2:c.388delC (Hb Hamilton Hill) 2481, HBA2:c.-24C>G (CAP +14 C>G) 2482, HBD:c.412_414delGTG (Hb Lincoln Park) 2483, HBA2:c.95+1G>T (IVS I-1 G>T) 2485, HBA1:c.232C>T (Hb Nile) 2486, HBA2:c.232C>T (Hb Nile) 2487, HBA2:c.94A>G (Hb Maranon) 2488, HBA2:c.75T>A (CD 24 TAT>TAA) 2489, HBA2:c.11C>A (Hb Tallahassee) 2490, HBB:c.358G>A (Hb Madison-NC) 2491, HBB:c.271G>C (Hb Henan) 2492, HBB:c.37A>C (Hb Ashburton) 2493, HBA2:c.123delG (CD 40 AAG>AA-) 2494, HBB:c.-35A>G (CAP +16 A>G) 2495, HBB:c.316-373C>A (IVS II-478 C>A) 2496, HBB:c.*182G>A (TTS +48 G>A) 2497, NC_000011.10:g.5194285_5244267del (49.98 kb (δβ)0 Indian del) 2498, NC_000011.10:g.5164124_5250830delinsTG (86.7 kb (Αγδβ)0 Indian del) 2499, HBA1:c.38C>A (Hb J-Paris-I) 2500, HBA1:c.142G>C (Hb Hasharon) 2501, HBA1:c.153C>G (Hb Frankfurt) 2502, HBA1:c.154G>C (Hb Russ) 2503, HBA1:c.226G>T (Hb Winnipeg) 2504, HBA1:c.233C>A (Hb Toulon) 2505, HBA1:c.237C>G (Hb Stanleyville-II) 2506, HBA1:c.262C>T (Hb M-Iwate) 2507, HBA1:c.283G>A (Hb Titusville) 2508, HBA1:c.362C>A (Hb J-Meerut) 2509, HBA1:c.49A>G (HbI) 2510, HBA1:c.84G>C (Hb Hekinan) 2511, NG_000006.1:g.34247_38050del;34045C>G (Hb Frankfurt) 2512, NG_013087.1:g.6869C>G (CD 299 (CAT>GAT)) 2513, NG_013087.1:g.7252G>A (rs483352839) 2514, NG_013087.1:g.5076G>A (CD 5 GAG>AAG [Glu>Lys]) 2515, NG_013087.1:g.6783C>G (CD 270 TCG>TGG) 2516, NG_013087.1:g.7242C>A (CD 338 CCC>ACC [Pro>Thr]) 2517, NG_013087.1:g.7212delC (CD 328 CGC>-GC) 2518, HBA2:c.45G>A (CD 14 TGG>TGA) 2519, HBA2:c.382A>T (CD 127 AAG>TAG [Lys>STOP]) 2520, HBD:c.443G>T (CD 147 TGA>TTA) 2521, HBD:c.333_334insGT (CD 110-111 +GT) 2522, HBB:c.209delG (CD 69 GGT>G-T) 2523, HBB:c.88G>C (Hb Dompierre) 2524, HBD:c.427C>A (CD 142 GCT>CCT [Ala>Pro]) 2525, HBB:c.199_207dupAAAGTGCTC (Hb Bronx) 2526, HBA2:c.428A>T (Hb Kinshasa) 2527, HBA2:c.344_345dup (CD 114 (+CC)) 2528, HBA1:c.193G>A (Hb G-Waimanalo) 2529, HBA1:c.151_152insGGAGCC (Hb Bakersfield) 2530, HBA2:c.383A>G (Hb Longview) 2531, HBB:c.136T>G (Hb Duc Pho) 2532, HBA1:c.310C>G (Hb Illinois) 2533, HBB:c.233A>C (Hb Brooklyn) 2534, HBB:c.250G>A (Hb Basking Ridge) 2535, HBA2:c.146_163delTGAGCCACGGCTCTGCCC (Hb Fenton) 2536, HBB:c.-21T>A (CAP +30 T>A) 2537, HBB:c.406G>A (Hb Calvino) 2538, HBA2:c.77G>A (Hb Cibeles) 2539, HBA1:c.283_300+3dup (Hb SKMC) 2540, HBA2:c.414_416delinsTCT (Hb Pohnpei) 2541, HBA2:c.[138C>G;172G>C] (Hb Blythe Boulevard) 2542, HBB:c.7C>A (Hb Franklin Park) 2543, HBB:c.38C>T (Hb William-Harvey) 2544, HBB:c.122G>C (Hb Alcorn County) 2545, HBB:c.286A>C (Hb J-Valencia) 2546, HBB:c.-176C>T (-126 C>T) 2548, NC_000011.10:g.5194460_5253454invdel5194460_5194542del5253454_5375965 (Inv-Del English V) 2549, HBA2:c.264C>A (Hb Lansing (A)) 2550, NC_000011.10: g.5372677_5372678insCACCTCCACTTdup5226885_5372677 (African I duplication) 2551, 2551 (Austrian I) 2552, HBG2:c.179A>G (Hb F-Augusta GA) 2553, HBB:c.44delT (CD 14 CTG>C-G) 2554, NG_000006.1g.7065_35627del28563 (-α28.5) 2555, 2555 (α12) 2556, HBG1:c.340G>A (Hb F-Sykesville MD) 2557, NG_013087.1:g.6811C>G (CD 279 (CAC>CAG)) 2558, NG_013087.1:g.7216A>G (CD 329 (CAC>CGC)) 2559, NG_013087.1:g.7300C>G (CD 357 (CAC>CCC)) 2560, HBD:c.428C>T (Hb A2-Episkopi) 2561, NG_000006.1:g.34247_38050dup (ααα(anti-3.7)) 2562, NC_000016.10:g.(?_53625)_(113702_143677)del ((αα)HS40del) 2563, HBD:c.92+56_92+82dup (IVS I-82_83 (+GTAGACAGAGAAGACTCTTGGGTTTCT)) 2564, HBB:c.*118A>G (3'UTR +118 (A>G)) 2565, HBB:c.-75G>T (-25 G>T) 2566, NG_000007.3:g.8510_13369del (Caribbean) 2567, NC_000016.10:g.(85585_100579)_ (360915_410354)dup (BS duplication) 2568, NC_000016.10:g.55826_(185840_187594)dup (FD duplication) 2569, NG_000006.1:g.(31957_31978)_(34525_34544)dup (ααα(anti-4.2)) 2570, 2570 (Sardinian duplication) 2571, HBA1:c.329T>C (Hb Milano) 2572, NG_013351.1:g.14783C>T (rs1801133) 2573, HBD:c.202G>A (Hb A2-Deventer) 2574, HBD:c.353A>C (Hb A2-Amsterdam) 2575, HBD:c.176_177insC (CD 58 +C) 2576, HBA2:c.206delA (CD 68 AAC>A-C) 2577, NG_011485.1:g.21749G>T (rs480780) 2578, NG_011485.1:g.9630T>G (rs211235) 2580, NG_011485.1:g.43419A>G (rs2149860) 2581, NG_011485.1:g.27562G>A (rs685417) 2583, NG_011485.1:g.14707T>C (rs516306) 2584, NG_011485.1:g.14089A>G (rs565587) 2585, NG_011485.1:g.10619A>G (rs211239) 2586, NG_011485.1:g.9558G>A (rs211234) 2587, NG_011485.1:g.9111C>T (rs2238166) 2588, NG_011485.1:g.8586A>G (rs499091) 2589, NG_011485.1:g.7530C>A (rs576404) 2591, NC_000015.10:g.60348029C>T (rs7163836) 2592, NG_016196.1:g.8730A>G (rs5369) 2593, NG_023228.1:g.17790A>G (rs73885319) 2594, NG_023228.1:g.17214G>A (rs2239785) 2595, NG_029732.1:g.240941G>T (rs979091) 2596, NG_029732.1:g.189152A>C (rs2836430) 2597, NG_013008.1:g.92021G>A (rs212527) 2598, NG_013008.1:g.91374A>G (rs212528) 2599, NG_013008.1:g.88757C>T (rs212531) 2601, NG_029752.2:g.566235C>T (rs538874) 2602, NG_029752.2:g.575929A>G (rs475303) 2603, NC_000013.11:g.33093328G>A (rs648464) 2604, NG_007490.1:g.53823T>C (rs1019856) 2605, NG_007490.1:g.64751G>A (rs934328) 2606, NG_027757.1:g.104640G>A (rs284157) 2607, NG_027757.1:g.155106T>A (rs7526590) 2608, NG_027757.1:g.202145C>T (rs2038931) 2609, NG_027757.1:g.134374G>A (rs10874940) 2610, NG_027757.1:g.205852T>C (rs284875) 2611, NC_000001.11:g.91656775A>C (rs2148322) 2612, NG_027757.1:g.214117G>A (rs2007686) 2613, NG_027757.1:g.214268G>A (rs2765888) 2614, NG_009245.1:g.157293T>C (rs2240036) 2615, NG_009245.1:g.242152T>C (rs4145993) 2616, NG_009245.1:g.265607A>G (rs17022863) 2617, NG_009245.1:g.336782T>C (rs1434549) 2618, NG_009245.1:g.346101A>G (rs1560909) 2619, NG_009245.1:g.354928C>T (rs7661539) 2620, NG_011966.2:g.74227G>A (rs157702) 2621, NG_011966.2:g.46574C>T (rs1145729) 2622, NG_011966.2:g.45247C>G (rs157681) 2623, NG_023228.1:g.14418C>T (rs713753) 2624, NG_011828.1:g.19114A>G (rs603085) 2625, NG_016963.1:g.17251T>C (rs9576135) 2626, NG_008305.1:g.57075G>C (rs8036023) 2627, NG_008305.1:g.36684G>A (rs4489951) 2628, NG_042174.1:g.22212T>G (rs7719521) 2629, NG_042174.1:g.14905A>G (rs725937) 2630, NG_042174.1:g.15921C>T (rs6874468) 2631, NG_032674.1:g.49520T>C (rs16971033) 2632, NG_032674.1:g.52024A>G (rs2289673) 2633, NG_032674.1:g.53940A>G (rs2304986) 2634, NG_011499.1:g.187063C>T (rs740127) 2635, NG_011884.2:g.104343C>T (rs11912763) 2636, NG_011884.2:g.96313A>G (rs16996648) 2637, NG_011884.2:g.86173A>G (rs5750248) 2638, NG_011884.2:g.83535T>C (rs1557529) 2639, NG_011884.2:g.74354A>T (rs8141189) 2640, NG_011884.2:g.73790T>C (rs1005570) 2641, NG_011884.2:g.63094G>A (rs16996672) 2642, NG_011884.2:g.93123G>A (rs4821481) 2644, NG_011884.2:g.81403T>C (rs2157256) 2645, NG_011884.2:g.79525C>T (rs4820230) 2646, NG_011884.2:g.77702T>C (rs8141971) 2647, NG_011485.1:g.37594G>A (rs2249358) 2648, NG_012187.1:g.6251G>C (rs1801253) 2649, NG_009549.1:g.14642A>T (rs706814) 2650, NG_011992.1:g.6933C>T (rs2070744) 2651, NG_011434.1:g.157046C>T (rs2238432) 2652, NG_011828.1:g.83070C>G (rs489347) 2653, NG_011434.1:g.114260T>C (rs2072338) 2654, NG_011434.1:g.105126C>A (rs2283497) 2655, NG_012125.1:g.34460T>A (rs2420378) 2656, NG_012125.1:g.23868G>A (rs3917733) 2657, NG_012125.1:g.4146A>G (rs3753306) 2658, NG_029732.1:g.251778C>T (rs989554) 2659, NG_016421.1:g.5318C>G (rs1042714) 2660, NG_012086.1:g.53930T>C (rs1805015) 2661, NG_028161.1:g.4653A>C (rs730012) 2665, NG_023034.2:g.3529T>C (rs1041163) 2666, NG_012100.1:g.3394_3395insT (rs3025058) 2667, NG_023034.2:g.16491G>C (rs3783613) 2668, NG_007462.1:g.4682G>A (rs1800629) 2669, NG_012203.1:g.37389C>T (rs12720497) 2670, NG_008331.1:g.18809T>G (rs5911) 2671, NG_008330.1:g.78602G>A (rs1801106) 2672, NG_008647.1:g.15878C>T (rs7147286) 2673, NG_009492.1:g.109905T>C (rs8041224) 2674, NG_009492.1:g.311733G>T (rs2872060) 2675, NG_009362.1:g.57170G>A (rs6586039) 2676, NG_009362.1:g.167412C>T (rs17107199) 2677, NC_000015.10:g.98643750G>T (rs1319868) 2678, NC_000014.9:g.54912273C>T (rs8007267) 2679, NC_000020.11:g.51513177T>C (rs17728960) 2680, NC_000006.12:g.7772759A>G (rs270387) 2681, NC_000006.12:g.7840548T>A (rs267188) 2682, NC_000006.12:g.7866194T>C (rs408505) 2683, NC_000006.12:g.7872119C>T (rs449853) 2684, NG_011990.1:g.12428A>G (rs10518707) 2685, NG_012244.1:g.858T>C (rs5014202) 2686, NG_016421.1:g.5285A>G, NG_016421.1:g.5285A= (rs1042713) 2687, NG_042166.1:g.19032C>G (rs3730070) 2688, NG_042166.1:g.25282C>T (rs7300155) 2689, NG_011993.1:g.194098T>G (rs10504269) 2690, NG_011993.1:g.190657A>C (rs6997859) 2691, NG_011993.1:g.164591T>C (rs1947178) 2692, NG_011993.1:g.99652A>C (rs389349) 2693, NG_011993.1:g.99125C>T (rs4737532) 2694, NG_011993.1:g.97586T>G (rs851800) 2695, NG_011993.1:g.318072G>A (rs2726599) 2696, NG_011993.1:g.311267T>G (rs3109904) 2697, NG_011993.1:g.304719A>T (rs7821556) 2698, NG_011993.1:g.301929G>C (rs7817609) 2699, NG_011993.1:g.295878A>C (rs826730) 2700, NG_011993.1:g.292546G>A (rs3779999) 2701, NG_011993.1:g.275034A>G (rs1349115) 2702, NG_011993.1:g.246558C>G (rs2594953) 2703, NG_011993.1:g.153441T>A (rs10283344) 2704, NG_011993.1:g.150456A>T (rs12545204) 2705, NG_011991.2:g.108542A>C (rs2682820) 2706, NG_011991.2:g.84398G>T (rs3825102) 2707, NG_011991.2:g.43043T>C (rs1483757) 2708, NG_012003.1:g.180060T>C (rs7987291) 2709, NG_012003.1:g.157923A>G (rs2387632) 2710, NG_012003.1:g.97877G>A (rs9513097) 2711, NG_012003.1:g.89866G>A (rs9508026) 2712, NG_012003.1:g.29914A>G (rs638889) 2713, NG_012003.1:g.28414T>C (rs2256849) 2714, NG_012003.1:g.24482G>T (rs670084) 2715, NG_012003.1:g.10297C>T (rs600640) 2716, NG_011990.1:g.53281G>A (rs8038623) 2717, NG_012244.1:g.43478T>C (rs1440372) 2718, NG_000007.3:g.22742C>G (rs7130110) 2719, NG_011975.1:g.50874A>G (rs1867380) 2720, NG_011988.1:g.70485C>T (rs1005589) 2721, NG_011988.1:g.111047G>A (rs11095629) 2722, NG_011988.1:g.157872G>A (rs5978663) 2723, NG_011988.1:g.44878C>T (rs7890737) 2724, NG_011988.1:g.43999C>T (rs4830513) 2725, NG_011988.1:g.27799C>T (rs5979998) 2726, NG_011988.1:g.10977A>G (rs6654096) 2727, NG_000007.3:g.27218G>C (rs3759070) 2728, NG_011542.1:g.28566C>T (rs590086) 2729, NG_011542.1:g.31827A>G (rs652313) 2730, NG_011542.1:g.42933A>G (rs12555797) 2731, NG_011542.1:g.49539A>T (rs543048) 2732, NG_011963.2:g.47702T>C (rs4468448) 2733, NG_011963.2:g.50817T>C (rs4769058) 2734, NC_000013.11:g.30767298G>A (rs4445746) 2735, NG_011992.1:g.22464T>C (rs1008140) 2736, NG_011992.1:g.24342C>T (rs743507) 2737, NG_011992.1:g.25156G>T (rs1808593) 2738, NG_011995.1:g.42270A>C (rs231944) 2739, NG_011995.1:g.42114G>A (rs231945) 2740, NG_011995.1:g.39392T>C (rs9371889) 2741, NG_011995.1:g.19853C>A (rs6557420) 2742, NG_012004.1:g.31044T>C (rs6554233) 2743, NG_012004.1:g.29962G>A (rs6828477) 2744, NG_012004.1:g.20595G>A (rs7654599) 2745, NG_012004.1:g.17205G>A (rs2305948) 2746, NC_000013.11:g.32786336C>A (rs7985485) 2747, NG_011485.1:g.24581T>G (rs577912) 2748, NG_011485.1:g.25141T>C (rs7982726) 2749, NG_011485.1:g.42623G>C (rs9527025) 2750, NG_011485.1:g.49893T>C (rs648202) 2751, NC_000015.10:g.60341947C>G (rs7170421) 2752, NC_000015.10:g.60341655G>A (rs7170178) 2753, NC_000015.10:g.60324736T>G (rs1033028) 2754, NC_000015.10:g.60317231C>T (rs11853426) 2758, NC_000015.10:g.60313715T>G (rs9920494) 2760, NC_000006.12:g.7768619G>C (rs270393) 2761, NC_000006.12:g.7849102T>A (rs267196) 2762, NC_000006.12:g.7853358A>G (rs267201) 2763, NC_000006.12:g.7877186A>C (rs1225934) 2764, NC_000006.12:g.7725527A>T (rs3812163) 2766, NC_000007.14:g.30932180T>C (rs10244884) 2767, NC_000002.12:g.186613773A>G (rs3768780) 2768, NC_000007.14:g.99047942C>G (rs219825) 2769, NC_000018.10:g.49001695C>T (rs736839) 2770, NC_000012.12:g.51899716G>A (rs3847859) 2771, NC_000006.12:g.7845011C>T (rs267192) 2772, NG_011434.1:g.14764A>G (rs437115) 2773, NC_000016.10:g.3953732A>G (rs2238426) 2774, NG_011485.1:g.2082A>C (rs398655) 2775, NC_000017.11:g.44807170C>A (rs1122109) 2776, NC_000017.11:g.44803385C>T (rs2108393) 2777, NC_000015.10:g.42109454T>C (rs776717) 2778, NG_008996.1:g.30191G>A (rs38850) 2779, NG_008996.1:g.71636C>T (rs38859) 2780, NG_012123.1:g.5974T>C (rs4586) 2781, NG_033024.1:g.6976T>C (rs25882) 2782, NG_029669.1:g.9308A>C (rs7203560) 2783, NC_000007.14:g.103423590C>G (rs6972505) 2784, NG_013364.1:g.16889delC (rs55659002) 2785, NG_042193.1:g.1825G>A (rs12979860) 2786, NG_042193.1:g.1483G>C (rs4803221) 2787, NC_000019.10:g.18383027G>C (rs4808793) 2788, NG_023030.1:g.18226T>A, NG_023030.1:g.18226T>C (rs12160039) 2789, NG_023030.1:g.4828_4829insGT (rs3074372) 2791, NC_000011.10:g.4932232G>T (rs840716) 2792, NG_000007.3:g.12337C>T (rs4910742) 2793, NG_011968.1:g.64877C>T (rs10172646) 2794, NG_011968.1:g.77740C>T (rs7579014) 2795, NG_011968.1:g.105692A>G (rs17331129) 2796, NC_000011.10:g.5434699G>A (rs1391619) 2797, NC_000011.10:g.5201149G>A (rs7937649) 2798, NC_000011.10:g.5193183T>A (rs10837540) 2799, NG_000007.3:g.62934T>C (rs3813727) 2800, NG_000007.3:g.49503A>T (rs916111) 2801, NG_000007.3:g.46692A>G (rs2855038) 2802, NG_000007.3:g.45699G>C (rs2855126) 2803, NG_000007.3:g.45159A>C (rs2855125) 2804, NG_000007.3:g.44129T>G (rs2070972) 2805, NG_011588.1:g.11633C>T (rs2580874) 2806, NG_000007.3:g.61068C>T (rs3759074) 2807, NG_000007.3:g.60808A>T (rs10837643) 2808, NG_000007.3:g.60684T>C (rs4320977) 2809, NG_000007.3:g.60254G>A (rs4402323) 2810, NG_000007.3:g.60019C>G (rs4910543) 2811, NG_000007.3:g.59119C>G (rs2105819) 2812, NG_000007.3:g.8340T>G (rs11036639) 2813, NG_000007.3:g.24701G>T (rs11036562) 2814, NG_000007.3:g.32038A>G (rs10837707) 2815, NG_000007.3:g.54700A>C (rs2071348) 2816, NG_000007.3:g.72490A>T (rs10837631) 2817, NG_011968.1:g.61548A>G (rs1896295) 2818, NG_011968.1:g.63393T>C (rs6738440) 2819, NG_011968.1:g.62525delG (rs45606437) 2820, NG_011968.1:g.64323T>C (rs7584113) 2821, NG_011968.1:g.65045T>C (rs10195871) 2822, NG_011968.1:g.66560G>A (rs1896294) 2823, NG_011968.1:g.58005C>T (rs6709302) 2824, NG_000007.3:g.31556C>T (rs4910740) 2825, NG_000007.3:g.41385T>G (rs10128653) 2826, NG_000007.3:g.41610G>A (rs2855122) 2827, NG_000007.3:g.54993T>C (rs16912210) 2828, NG_000007.3:g.59857G>T (rs4910736) 2829, NC_000011.10:g.5352021C>T (rs5006884) 2830, NC_000011.10:g.5351521A>C (rs4910755) 2831, NC_000011.10:g.5351626A>G (rs4910756) 2832, NC_000011.10:g.5351776T>C (rs7483122) 2833, NC_000011.10:g.5352081T>C (rs5006883) 2834, NC_000011.10:g.5352332C>A (rs5024042) 2835, NC_000011.10:g.5365438G>A (rs10500635) 2836, NC_000011.10:g.5472327A>G (rs416586) 2837, NC_000006.12:g.135106006C>A (rs9376092) 2838, NC_000006.12:g.135106021T>C (rs9389269) 2839, NC_000006.12:g.135114363T>C (rs9483788) 2840, NC_000006.12:g.135097495_135097497delTAC (rs66650371) 2841, NC_000006.12:g.135097904G>A (rs35786788) 2842, NC_000006.12:g.135111414T>C (rs9494145) 2843, NC_000006.12:g.135091498T>C (rs41294858) 2844, NC_000006.12:g.135093712G>A (rs55731938) 2845, NC_000006.12:g.135093866C>T (rs7745098) 2846, NC_000006.12:g.135096322G>T (rs76267242) 2847, NC_000006.12:g.135097900C>A (rs11321816) 2848, NC_000006.12:g.135102274G>A (rs1074849) 2849, NC_000006.12:g.135110923A>G (rs1411919) 2850, NC_000006.12:g.135114033G>A (rs2223385) 2851, NC_000006.12:g.135130442C>T (rs1569534) 2852, NG_002601.2:g.175181C>T (rs887829) 2853, NG_002601.2:g.97138T>G (rs7586110) 2854, NG_002601.2:g.103447C>T (rs10168155) 2855, NG_002601.2:g.103698C>G (rs10168416) 2856, NG_002601.2:g.108280T>G (rs6759892) 2857, NG_002601.2:g.108576A>G (rs1105880) 2858, NG_002601.2:g.108802A>G (rs2070959) 2859, NG_002601.2:g.108813A>C (rs1105879) 2860, NG_002601.2:g.117705T>G (rs17863787) 2861, NG_002601.2:g.179250G>T (rs6742078) 2862, NG_002601.2:g.179333T>G (rs4148324) 2863, NG_002601.2:g.179850G>A (rs3771341) 2864, NG_002601.2:g.179920C>T (rs4148325) 2865, NG_002601.2:g.180073T>C (rs4148326) 2866, NG_002601.2:g.174193A>C (rs3755319) 2867, NG_002601.2:g.175492_175493TA[5][6][7][8] (rs8175347) 2868, NC_000011.10:g.5390842A>G (rs11037191) 2869, NG_000007.3:g.69476G>A (rs1003586) 2870, NG_000007.3:g.58270A>G (rs968856) 2871, NG_000007.3:g.60356T>A (rs4283007) 2872, NG_000007.3:g.66595A>G (rs6578588) 2873, NC_000011.10:g.5204405G>C (rs11036238) 2874, NG_000007.3:g.41768T>A (rs2855123) 2875, NC_000011.10:g.4924401G>A (rs10836955) 2877, NC_000011.10:g.5430531G>A (rs2340653) 2878, NC_000011.10:g.5419057A>G (rs2647579) 2879, NC_000011.10:g.4590424G>A (rs7951206) 2880, NC_000002.12:g.60402474G>A (rs888082) 2881, NC_000011.10:g.5521789T>C (rs12286144) 2882, NC_000011.10:g.4914380C>T (rs12802922) 2883, NC_000022.11:g.36220399T>C (rs4821469) 2884, NC_000022.11:g.36273049C>T (rs4821475) 2885, NG_009363.1:g.190619T>G (rs17199249) 2886, NC_000002.12:g.60379872T>G (rs243027) 2887, NC_000002.12:g.60386641G>A (rs243081) 2888, NC_000006.12:g.136368292A>G (rs2179288) 2889, NC_000006.12:g.136377559C>A (rs2076192) 2890, NC_000006.12:g.136516923T>C (rs3778314) 2891, NG_008462.1:g.40670G>A (rs2012700) 2892, NG_008462.1:g.45356G>A (rs3799476) 2893, NG_008462.1:g.68587G>A (rs1342645) 2894, NG_009060.1:g.48389A>G (rs5742911) 2895, NG_007481.1:g.96969G>A (rs6663530) 2896, NC_000001.11:g.159212305C>T (rs3027045) 2897, NG_009778.1:g.9063C>T (rs5923) 2898, NC_000012.12:g.96010211T>A (rs10492226) 2899, NC_000012.12:g.96015423A>G (rs1978331) 2900, NG_012125.1:g.24088G>A (rs2235302) 2901, NG_012125.1:g.23493G>A (rs6131) 2902, NG_007951.1:g.63342G>A (rs426634) 2903, NG_042166.1:g.23055A>G (rs9804777) 2904, NG_027757.1:g.130512G>C (rs17443164) 2905, NG_009363.1:g.174302G>C (rs35711585) 2906, NG_042284.1:g.25565T>G (rs2068991) 2907, NG_029954.1:g.68394A>G (rs559046) 2908, NG_029954.1:g.65626T>C (rs1624292) 2909, NG_008107.1:g.149950C>T (rs11969912) 2910, NG_008731.1:g.63980G>A (BsmI polymorphism) 2911, NG_007400.1:g.6252G>T (Sp1 polymorphism) 2915, NC_000004.12:g.69095621G>A (-840 G>A) 2917, NC_000010.11:g.70171890C>A (rs2310991) 2918, NC_000010.11:g.70170313A>G (rs4282891) 2919, NC_000014.9:g.67599842A>T (rs2295644) 2920, NG_007086.2:g.15355C>T (rs17599586) 2921, NG_008851.1:g.8967C>T (rs1143634) 2922, NG_011640.1:g.4456A>G (rs1800797) 2923, NG_011640.1:g.4880C>G (rs1800795) 2924, NC_000016.10:g.4487692T>C (rs4786504) 2925, NG_015865.1:g.8168C>G (rs186996510) 2926, NG_016000.1:g.55848A>G (rs4953354) 2927, NG_016000.1:g.36805G>A (rs13419896) 2928, NG_007490.1:g.82652T>C (rs876687) 2929, NG_007490.1:g.81443A>G (rs3773658) 2930, NC_000003.12:g.121696873T>C (rs3732410) 2931, NG_008206.1:g.48213A>C (rs1044498) 2932, NG_008779.1:g.21439A>G (rs662) 2933, NC_000002.12:g.154354666C>G (rs799813) 2934, NC_000002.12:g.153513398A>C (rs10497120) 2935, NC_000002.12:g.154425285G>A (rs13407922) 2936, NC_000002.12:g.153515514A>G (rs16833378) 2937, NC_000002.12:g.154425689T>A (rs9808145) 2938, NC_000017.11:g.15770470C>T (rs7208480) 2939, NC_000001.11:g.203468576T>C (rs2794452) 2940, NG_015990.1:g.5375T>C (rs2280789) 2941, NG_012075.1:g.6624A>G (rs1695) 2942, NG_008836.1:g.9543T>C (rs699) 2943, NG_011441.1:g.93457T>C (rs2282786) 2944, NG_008731.1:g.30920T>C ( rs2228570) 2945, NG_000007.3:g.47783G>A (rs368698783) 2946, NG_011542.1:g.43563G>T (rs10901080) 2947, NG_011542.1:g.62817C>T (rs10793902) 2948, NG_011992.1:g.12965T>G (rs1799983) 2949, NC_000019.10:g.39252525T>G (rs8099917) 2950, NG_000007.3:g.9151A>G (rs16912979) 2951, HBA2:c.356C>T (Hb Cervantes) 2952, HBA2:c.275T>G (Hb La Mancha) 2953, HBA2:c.139T>A (Hb Brigante) 2954, HBB:c.129delT (Hb Yala) 2955, HBA2:c.149_172del (Hb Goya) 2956, HBA2:c.275T>A (Hb Kalavasos) 2957, HBA2:c.96-1G>A (IVS I-117 G>A) 2958, HBB:c.24dupG (CD 7/8 (+G)) 2959, HBB:c.158delA (CD 52 GAT>G-T) 2960, HBB:c.142_142dupG (CD 46/47 (+G)) 2961, HBB:c.434A>C (Hb San Cataldo) 2962, HBB:c.119A>C (Hb Hyden) 2963, HBB:c.23A>T (Hb Haaglanden) 2964, HBB:c.161C>T (Hb Midnapore) 2965, HBB:c.270_273delTGAG (Hb Wilde) 2966, HBB:c.296_297dup (Hb Patagonia) 2967, HBA2:c.-59C>T (-22 C>T) 2968, HBA1:c.110T>A (Hb Kempten) 2969, HBB:c.215T>A (Hb Saint-Clair) 2970, HBA2:c.254G>C (Hb Oelsnitz) 2971, HBA2:c.-81C>A (-44 C>A) 2972, HBB:c.126C>A (Hb Wilton) 2973, HBB:c.363A>T (Hb Belsize Park) 2974, HBB:c.62T>C (Hb Howden) 2975, HBB:c.257T>G (Hb Grantham) 2976, HBB:c.194G>T (Hb Calgary) 2977, HBA2:c.41C>A (Hb Little Waltham) 2978, HBA2:c.53T>A (Hb Oxford) 2979, HBA2:c.223G>T (Hb Uttoxeter) 2980, HBA2:c.245C>A (Hb Wolverhampton) 2981, HBA2:c.419A>G (Hb Witham) 2982, HBA1:c.185A>G (Hb Derby) 2983, HBA1:c.84G>T (Hb Hekinan II) 2984, HBA1:c.374C>G (Hb Harehills) 2985, HBA1:c.307A>C (Hb Manitoba IV) 2986, HBA1:c.98T>C (Hb Bridlington) 2987, HBA1:c.28A>G (Hb Farnborough) 2988, HBA2:c.-91G>A (-54 G>A) 2989, HBD:c.431A>G (Hb A2-Leuven II) 2990, HBB:c.167_179del (CD 55-59 (-13 bp)) 2991, HBA1:c.326C>A (Hb Rogliano) 2993, HBA1:c.149G>A (Hb Furuset) 2994, HBB:c.418A>C (Hb Bermondsey) 2995, HBA1:c.85G>A (Hb Bramall Lane) 2996, HBA1:c.220G>A (Hb Argenteuil) 2997, HBB:c.-122T>A (-72 T>A) 2998, HBB:c.178A>C (Hb Hillsborought) 2999, HBA2:c.107C>T (Hb Colorado) 3000, HBA1:c.55G>A (Hb King Ecgbert) 3001, HBB:c.335T>G (Hb Belluno) 3002, HBD:c.314G>A (Hb Chori-Burnaby) 3003, HBD:c.301C>T (Hb A2-Saurashtra) 3004, HBB:c.124T>G (Hb Valme) 3005, HBB:c.55G>C (Hb Bhubaneswar) 3007, NG_059281.1:g.5059T>C (rs713040) 3008, HBB:c.93-16A>T (IVS I-115 (A>T)) 3009, HBB:c.265C>A (Hb NISER) 3011, HBB:c.315+81C>T (IVS II-81 (C>T)) 3012, HBB:c.315+255T>C (IVS II-255 T>C) 3013, HBB:c.316-208C>G (IVS II-643 (C>G)) 3014, HBB:c.8delA (CD 2 CAT>C-T) 3015, HBA1:c.190G>A (Hb Greenville-NC) 3016, HBA1:c.371C>T (Hb Louisa) 3018, NC_000016.10:g.170694_184101del (--NOR) 3019, HBB:c.206_212delTCGGTGC (CD 68-70 (-7bp): (-TCGGTGC)) 3020, NG_000006.1: g.8800_40007del31208 (--DANE) 3021, NC_000016.10:g.(149437_149482)_(179595_179654)del (--JAL) 3022, NC_000016.10:g.(45349_45393)_(262286_262330)del (--LOD) 3023, HBB:c.108C>G (CD 35 TAC>TAG) 3024, HBB:c.335_346del (CD 111-115 (-12bp): (-TCTGTGTGCTGG)) 3025, HBG1:c.-167C>G (-114 C>G) 3026, HBA1:c.148A>C (Hb Puerta del Sol) 3027, HBA2:c.3G>T (Hb Valdecilla) 3028, HBA2:c.358C>T (Hb Macarena) 3029, HBA2:c.364_366dupGTG (Hb El Retiro) 3030, HBA1:c.91G>T (CD 30 GAG>TAG) 3031, HBA1:c.300+1G>A (IVS II-1 G>A) 3032, HBA1:c.85G>T (CD 28 GCC>TCC [Ala>Ser]) 3033, HBA2:c.95+27C>T (IVS I-27 C>T) 3034, HBB:c.412_413delinsTG (Hb Allentown) 3035, HBB:c.79G>C (Hb King's Mill) 3036, HBA1:c.354_355insTCA (Hb Wexham) 3037, HBA2:c.55G>C (Hb Handsworth) 3038, HBA2:c.19G>T (Hb Woodville) 3039, HBA2: c.157_180del (Hb J-Biskra) 3040, HBA1:c.146T>G (Hb Montgomery) 3041, HBA2:c.349G>A (Hb O-Indonesia) 3042, HBA2:c.367C>T (Hb Yanase) 3044, HBB:c.271delG (CD 90 GAG>-AG) 3045, HBB: c.316-3C>T (IVS II-848 C>T) 3046, HBB:c.*115_*116del (3'UTR +115-+116 (-AA)) 3048, HBB:c.*96_*103delTGGATTCTinsC (3'UTR, +C, -TGGATTCT) 3049, HBA1:c.95+1G>C (IVS I-1 AGGT>AGCT donor) 3050, HBA2:c.1A>T (Init CD ATG>TTG [Met>Leu]) 3051, HBA2:c.-3delA (Init CD ACCATG>-CCATG) 3053, HBA2:c.143_146delACCT (CD 47/48 (-4bp): (-ACCT)) 3054, HBA2:c.169_170delAA (CD 56 AAG>--G) 3055, HBA2:c.220_223delGTGG (CD 73/74 (-4bp): (-GTGG)) 3056, HBA2:c.313T>A (Hb Oegstgeest) 3057, HBB:c.272_295dup (CD 90 (+24 bp) (+AGCTGCACTGTGACAAGCTGCACG)) 3058, HBD:c.364G>A (Hb A2-Fengshun) 3059, HBB:c.-148T>A (-98 T>A) 3060, HBB:c.-92C>G (-42 C>G) 3061, HBB:c.178_179insT (CD 59 (+T)) 3062, HBB:c.-80delT (-30 (-T)) 3063, HBA2:c.300+55T>G (IVS II-55 T>G) 3064, HBA2:c.52G>T (Hb Dapu) 3065, HBB:c.259G>A (Hb Seoul) 3066, HBB:c.93-23T>C (IVS I-108 T>C) 3067, NG_000006.1:g.3(33114_33812)_(40649_42021)del (--MEX1) 3068, NC_000016.10:g.(113775_130542)_(208161_249560)del (--MEX2) 3069, HBB:c.-127G>C (-77 G>C) 3070, NC_000016.10:g.44054_44055ins[NC_000016.10:g.10001_232200] (αααα282) 3071, NC_000016.10:g.10001_185264del (--235) 3072, NG_000006.1: g.37040_37164del (125 bp deletion) 3073, NC_000011.10:g.[5194397_5357192del;5194356_5194401insAGCTAAAGGTTTTGTAAATGCACCAATCAGCAATCTGTGTCTAACTC] (Italian (εγδβ)0 deletion) 3074, NC_000016.10:g.113161_113902del ((αα)JX) 3075, HBA1:c.171_172insAGCCACGGCTCTGCCCAAGTTAGG (Hb Kaohsiung Veterans General Hospital) 3076, NC_000016.10:g.101440_492029dup (αααα391) 3077, HBB:c.-133G>A (-83 G>A) 3079, HBA2:c.168dup (CD 55 +T) 3080, HBA2:c.283_300+3dup (Hb SKMC) 3081, HBB:c.-273T>C (-223 T>C) 3082, NG_012856.2:g.40380A>G (rs2413450) 3083, NG_012856.2:g.41013C>T (rs4820268) 3084, NG_012856.2:g.47668T>C (rs855791) 3085, NG_012856.2:g.45214_45218delCCCCA (rs200434923) 3086, NG_013364.1:g.4536T>C (rs1800469) 3087, NG_013087.1:g.6623C>T (CD 217 CAG>TAG [Gln>Stop]) 3088, NG_013087.1:g.6641C>T (CD223 CAG>TAG [Gln>Stop]) 3089, NG_013087.1:g.7304G>T (CD 358 ATG>ATT [Met>Ile]) 3090, NG_013087.1:g.7151G>C (CD 307 AAG>AAC [Lys>Asn]) 3091, NG_013087.1:g.6842_6853delTACACCAAGAGC | NG_013087.1:g.6843_6854delACACCAAGAGCT (CD 290/293 (-12bp) or CD 290/294 (-12bp)) 3092, NG_013087.1:g.4916G>A (-148 G>A) 3093, NG_013087.1:g.7177G>A (CD 316 TGC>TAC [Cys>Tyr]) 3094, NG_016323.1:g.6589T>C (rs144300387) 3095, NG_016323.1:g.9877G>T (rs5936) 3096, NG_016323.1:g.12695C>T (rs146922325) 3097, NG_008673.3:g.196A>G (rs1867504) 3098, NG_013080.1:g.15746C>T (rs1799852) 3099, NG_013080.1:g.16876C>T (rs3811658) 3101, NG_011968.1:g.70455G>A (rs6545817) 3102, NG_011968.1:g.61962A>G (rs6729815) 3103, NG_000007.3:g.50049C>T (rs10488676) 3104, NG_000007.3:g.47175G>A (rs2855039) 3105, NG_000007.3:g.45305C>T (rs2255519) 3106, NG_000007.3:g.10118G>A (rs11036634) 3107, NG_000007.3:g.6445T>C (rs4601817) 3108, NC_000011.10:g.5316981T>C (rs7118086) 3109, NC_000011.10:g.5321174C>T (rs6578603) 3110, NC_000011.10:g.5323451G>A (rs11036815) 3111, NC_000011.10:g.5328374A>G (rs6578605) 3112, NC_000011.10:g.5268938_5268939ins4619102_(5180070_5183700)ins(5216190_5222040)_5268938 (African II duplication) 3113, NG_016196.1:g.10727G>T (rs5370) 3114, 3114 (T8002C) 3115, NG_011806.1:g.41721G>A (rs6025) 3116, NG_008953.1:g.25313G>A (rs1799963) 3117, NG_012124.1:g.7161A>C (rs5361) 3118, NG_031963.2:g.18038C>T (rs1613662) 3119, NG_007965.1:g.12538C>A (rs13146272) 3120, NG_008720.2:g.8671C>G ( rs1799945) 3121, NG_007989.1:g.8204G>T (rs7385804) 3122, NG_011563.1:g.4490A>G (rs10421768) 3123, NG_008967.1:g.179110C>T (rs10904850) 3124, NG_009813.1:g.82497G>A (rs747259055) 3125, NG_012462.1:g.12655A>G (rs5877) 3126, NG_001332.2:g.46438G>C (rs61743453) 3127, NC_000014.9:g.99865589G>A (rs141631682) 3128, NC_000014.9:g.73254537G>A (rs17126352) 3129, NG_029518.1:g.97190C>A (rs2273668) 3130, NC_000004.12:g.154235260G>A (rs61746132) 3131, NG_012324.1:g.24715C>A | NG_012324.1:g.24715C>T (rs61749462) 3132, NC_000007.14:g.156969123C>T (rs61742645) 3133, HBB:c.[315+1G>A; 274C>T] (IVS II-1 G>A and CD 91 CTG>TTG [Leu>Leu]) 3134, NG_008431.1:g.32035C>A (rs762551) 3135, NG_008431.1:g.37544C>T | NG_008431.1:g.37544C= (rs2470890) 3136, NG_008431.1:g.7294C>A (rs2606345) 3137, NG_011798.1:g.26353G>A (rs2273697) 3138, NG_013087.1:g.7198C>T (CD 323 TCG>TTG [Ser>Leu]) 3139, NC_000017.11:g.69422989T>C (rs60684937) 3140, HBA2:c.345delC (CD 114 CCC>CC-) 3142, NG_000006.1:g.31022_37366del6344 (-α6.3) 3143, NG_017089.1:g.14001C>A (rs4644) 3144, NG_017089.1:g.14102A>C (rs4652) 3145, NG_008192.1:g.16417A>G (rs1984112) 3146, NG_008850.1:g.5012C>T (rs1800587) 3147, HBA1:c.2T>A (Init CD ATG>AAG [Met>Lys]) 3149, NG_013087.1:g.7309G>A (CD 360 CGC>CAC [Arg>His]) 3150, NG_011487.1:g.294999A>G (rs6466533) 3151, NC_000009.12:g.18839726A>C (rs10756993) 3152, NC_000009.12:g.32264314A>G (rs62573842) 3153, NG_012107.1:g.72498C>T (rs6590706) 3154, NC_000015.10:g.93345162T>C (rs7163278) 3155, NW_003315959.1:g.26240C>T (rs10468869) 3156, NC_000019.10:g.46027961T>C (rs28567737) 3157, NG_009617.1:g.6420G>A (rs45496295) 3158, NG_000007.3:g.48428T>C (rs11036455) 3159, NG_000007.3:g.49274T>G (rs201642811) 3160, NG_000007.3:g.43668A>G (rs11036474) 3161, NG_000007.3:g.43606C>T (rs11036475) 3162, NG_000007.3:g.42859G>A (rs1894397) 3163, NG_011968.1:g.55290C>T (rs117674195) 3164, NG_011968.1:g.81150A>T (rs7581162) 3165, NG_011968.1:g.80701T>A (rs7593947) 3166, NC_000006.12:g.135099930delT (rs34208856) 3167, NC_000006.12:g.135103586delT (rs11356238) 3168, NC_000006.12:g.135080233C>T (rs41294854) 3169, NC_000006.12:g.135093071G>A (rs56076748) 3170, NC_000006.12:g.135098116T>C (rs41294862) 3171, NG_012002.1:g.56872T>G (rs186765701) 3172, NG_012649.1:g.84516T>C (rs4527238) 3173, NC_000015.10:g.75373740G>A (rs11072544) 3174, NC_000015.10:g.75390172A>G (rs7166737) 3175, HBA1:c.176A>T (Hb Kirklareli) 3176, NG_027676.1:g.16974T>C (rs9496646) 3177, NG_008732.1:g.16158C>T (rs3025020) 3178, NG_008732.1:g.5398C>G (rs2010963) 3179, NG_008732.1:g.9575G>A (rs833068) 3180, HBB:c.*62A>G (3'UTR +62 A>G) 3181, NC_000016.10:g.88534873A>G (rs141006889) 3182, NG_041939.1:g.69122A>C (rs113267280) 3183, NG_011968.1:g.75063C>T (rs13019832) 3184, NG_012002.1:g.24821C>G (rs11754265) 3185, NG_000007.3:g.28476G>C (rs67385638) 3186, NG_032925.2:g.20316C>T (rs183437571) 3187, NG_000007.3:g.63264G>T (rs35152987) 3188, NG_000007.3:g.66997C>A (rs7944544) 3189, NG_000007.3:g.68678C>T (rs7936823) 3190, NC_000011.10:g.5210335C>T (rs12793110) 3191, NG_000007.3:g.76148C>G (rs11036338) 3192, NG_000006.1:g.27457T>C (rs141494605) 3193, NG_012267.1:g.65247G>A (rs148706947) 3194, NG_029669.1:g.44159C>T (rs570013781) 3195, NG_009015.2:g.18154C>T (rs5030868) 3196, NC_000015.10:g.39581083G>A (rs1478605) 3197, NC_000012.12:g.63153459T>C (rs10877969) 3198, NG_016421.1:g.3422A>T (rs17778257) 3199, NG_016421.1:g.4586G>A (rs12654778) 3200, NG_016421.1:g.4772G>C (rs11168070) 3202, NG_016421.1:g.4873C>T (rs11959427) 3203, NG_016421.1:g.5193C>T (rs1042711) 3204, NG_016421.1:g.5220C>T (rs1801704) 3205, NG_011626.2:g.5174T>C (rs2814778) 3206, NG_023228.1:g.17930_17935delTTATAA (rs71785313) 3207, NG_033236.1:g.77856G>C (rs76056952) 3208, NG_030463.1:g.8143C>T (rs114990094) 3209, NG_027822.1:g.11259G>T (rs72765108) 3210, NG_008967.1:g.283485A>G (rs111265129) 3211, NG_007939.1:g.21183A>C (rs12094024) 3212, NG_029826.1:g.21020G>A (rs61729510) 3213, NG_030361.1:g.7406G>A (rs764833434) 3214, NC_000016.10:g.144215_188841del (44.6 kb deletion) 3215, NC_000016.10:g.(167305_169853)_(239884_271794)del (--Braz) 3216, NG_013087.1:g.6606A>G ( rs765026103) 3217, HBA2:c.94A>T (Hb Debao) 3218, NG_011968.1:g.61547C>A (rs1896296) 3219, NG_009929.2:g.459084_459085insA (rs557939075) 3220, NC_000006.12:g.11287099C>T (rs4713339) 3221, NG_009227.1:g.82390T>C (rs13080125) 3222, HBD:c.293A>G (Hb A2-Merchang) 3223, HBD:c.-6A>T (CAP +48 (A>T)) 3224, HBB:c.-140C>G (-90 (C>G)) 3225, HBB:c.237_256delGGACAACCTCAAGGGCACCT (CD 78/85 (-20bp)) 3226, HBB:c.315+2T>G (IVS II-2 T>G) 3227, HBB:c.376_380dupCCAGT (CD 125-126 (+CCAGT)) 3228, HBB:c.349del (CD 116 CAT>-AT) 3229, HBD:c.349C>G (CD 116 CGC>GGC [Arg>Gly]) 3230, HBD:c.347C>T (CD 115 GCC>GTC [Ala>Val]) 3231, HBD:c.22_24delGAG (CD 7 (-3bp): (-GAG)) 3232, HBD:c.31delG (CD 10 GCT>-CT) 3233, HBD:c.93-2delA (IVS I 3' AG>-C) 3234, HBD:c.341_342dupTG (CD 113 (+TG)) 3235, HBD:c.325A>G (Hb A2-Meizhou) 3236, HBD:c.263delA (CD 87 CAG>C-G) 3237, HBD:c.180_181dup (CD 59/60 (+GG)) 3238, HBD:c.134C>G (Hb A2-Conghua) 3239, HBD:c.127T>C (Hb A2-Huadu) 3240, HBD:c.86T>C (Hb A2-Hunan) 3241, HBD:c.65A>G (Hb A2-Dongguan) 3242, HBD:c.53A>C (Hb A2-Qingyuan) 3243, HBD:c.31G>C (Hb A2-Guangzhou) 3244, NC_000016.10:g.(113686_143638)_(407521_?)del (−KOZANI) 3245, NG_016229.1:g.6686T>A (rs4696480) 3246, HBB:c.92+44A>G (IVS I-44 A>G) 3247, HBB:c.315+209_315+212delTTTT (IVS II-209 (-TTTT)) 3248, HBB:c.41C>T (Hb Yulin) 3249, HBB:c.408delT (Hb Urumqi) 3250, HBA1:c.2delT (Init CD ATG>A-G) 3251, HBA1:c.96-1G>C (IVS I-117 GCAGGA>GCACGA acceptor) 3252, HBA1:c.99G>A (Hb Amsterdam-A1) 3253, HBB:c.265_266del (CD 88 CTG>--G) 3254, NG_011502.1:g.4839C>T (rs5742909) 3255, NC_000016.10:g.151479_182582del (--MEX3) 3256, HBD:c.233A>G (Hb A2-Kiriwong) 3257, NG_008935.1:g.262384G>T (rs231841) 3258, NC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCA (--NFLD) 3259, NG_009629.1:g.4535G>A (rs2333227) 3260, NG_000007.3:g.16766T>G (rs7119428) 3261, NG_000007.3:g.16784A>G (rs9736333) 3263, NG_012649.1:g.90541C>T (rs35685045) 3264, HBA1:c.133C>T (Hb Wiangpapao) 3265, NC_000016.10:g.(53322_113530)_(181203_206337)dup (α-globin cluster triplication) 3266, HBA1:c.69C>T (CD 22 GGC>GGT [Gly>Gly]) 3267, HBA1:c.70G>T (CD 23 GAG>TAG) 3268, NG_000006.1:g.32945_33755 (811 bp deletion) 3269, HBD:c.442T>C (CD 147 TGA>CGA [Stop>Arg]) 3270, NC_000011.10:g.5036736_5270337del (Chinese I (εγδβ)0) 3271, HBA2:c.358C>G (Hb Arcadia) 3272, HBG2:c.-533_-529delATAAG (-533 (-ATAAG)) 3273, NC_000016.10:g.(100364_105222)_(376261_986851)del (--VS) 3274, NC_000016.10:g.(?_53322)_(177893_179815)del (--CBR) 3275, NC_000016.10:g.113194_116554delins39 ((αα)ALT) 3276, HBB:c.92+7A>G (IVS I-7 A>G) 3277, HBB:c.-464_74del | NG_000007.3:g.70131_70668del (538 bp deletion) 3278, HBB:c.-390_316-169delinsA (1517 bp deletion) 3280, HBA1:c.178G>C (Hb Zurich-Albisrieden) 3281, HBA1:c.393_394insT (Hb Sichuan) 3282, HBB:c.114G>C (CD 37 TGG>TGC [Trp>Cys]) 3283, NG_000006.1:g.35801_38338delinsGGCCTCCCAACGGGCCCTCCTCCCCTCCT (--JS) 3284, NC_000016.10:g.93628_542759del450131 (--PG) 3285, NC_000006.12:g.129691228C>T (rs11759328) 3286, HBA2:c.184A>T (CD 61 AAG>TAG [Lys>STOP]) 3287, HBB:c.268_281delAGTGAGCTGCACTG (CD 89-93 (-14bp): (-AGTGAGCTGCACTG)) 3288, HBB:c.23delA (CD7 GAG>G-G) 3290, NG_013087.1:g.4813C>G (rs3817621) 3291, NG_013087.1:g.6278T>C (CD 102 TCC>CCC [Ser>Pro]) 3292, NC_000016.10:g.172736_187935del (15 kb deletion) 3293, NC_000016.10:g.56407_153678del (97 kb deletion) 3294, NG_000006.1:g.20350_42078del (22 kb deletion) 3295, NC_000016.10:g.56407_281805del (225 kb deletion) 3296, NC_000016.9:g.(161901_161910)_(178672_178681)del (--GB) 3297, HBB:c.34_42delGTTACTGCC (Hb JC-Paz) 3298, HBB:c.182_187delTGAAGG (Hb Tavapy) 3299, HBB:c.235dupC (CD 77/78 (+C)) 3300, NC_000003.12:g.55039890A>C (rs6777055) 3301, HBA2:c.*136A>G (TTS +26 A>G) 3302, HBA1:c.*46C>A (3'UTR +46 C>A) 3303, NG_008841.1:g.31550C>T (rs4274224) 3304, NC_000020.11:g.45094986T>C (rs734784) 3305, HBA2:c.379delG (CD 126 GCG>-CG) 3306, HBB:c.77_79delGTG (Hb M Dothan) 3307, NG_000007.3:g.[63191_70603dup;63291_70703del] (Hb Lepore Rochester-MN) 3308, HBB:c.348_349delinsG (Hb Grand Junction) 3309, HBB:c.323G>T (Hb Nurnberg) 3310, HBB:c.239A>C (Hb Torbay) 3311, HBB:c.176delC (CD 58 CCT>C-T) 3312, HBA1:c.219C>G (Hb Madonie) 3313, HBB:c.376C>A (Hb Novara) 3314, HBD:c.350G>C (Hb A2-Bornova) 3315, HBD:c.170G>A (Hb A2-Shah Alam) 3316, HBD:c.160G>C (Hb A2-Edirne) 3317, HBD:c.142G>A (Hb A2-Lampang) 3318, HBD:c.350G>T (Hb A2-Lepore) 3319, HBG2:c.5G>A (Hb F-Hayward) 3320, HBG1:c.50G>A (Hb F-Chori-I) 3321, HBG1:c.89G>A (Hb F-Chori-II) 3322, HBG2:c.85C>A (Hb F-M Viseu) 3323, HBB:c.256T>C (Hb San Martin) 3324, HBB:c.[20A>T;419A>G] (Hb S-Wake) 3325, HBB:c.434A>G (Hb Heze) 3326, HBA1:c.221delT (CD 73 GTG>G-G) 3327, NC_000016.10:g.(41492_43628)_(247888_254167)del (--GX) 3328, NC_000022.11:g.19969258G>A (rs165599) 3329, NG_012462.1:g.17458C>T (rs2227617) 3330, NG_011485.1:g.37125C>T (rs1888057) 3331, NC_000006.11:g.135390836G>A (rs1547247) 3332, NG_009246.1:g.4023_4024delTG (rs4025935) 3333, HBA2:c.414C>T (CD 137 ACC>ACT) 3334, HBA1:c.184A>T (CD 61 AAG>TAG [Lys>STOP]) 3335, HBD:c.221A>T (Hb A2-Henan) 3336, HBD:c.22G>T (CD 7 GAG>TAG [Glu>STOP]) 3337, NC_000006.12:g.135110180T>C (rs6920211) 3338, NG_008732.1:g.12155G>A (rs3024997) 3339, NG_008732.1:g.12143C>A (rs2146323) 3340, NC_000011.10:g.(5106498_5151836)_(5324046_5390135)del (Brazilian (εγδβ)0) 3342, HBB:c.188C>T (Hb Hachioji) 3343, NC_000022.10:g.35792974T>C (rs743811) 3345, HBB:c.-29G>T (CAP +22 (G>T)) 3346, NC_000016.10:g.66924983T>G (rs7198458) 3347, NC_000006.12:g.109564272G>A (rs10499052) 3348, NG_008678.1:g.625121A>G (rs73599293) 3349, NG_033890.1:g.15117G>A (rs920829) 3350, NC_000009.12:g.137383374C>T (rs13291830) 3351, NG_046911.1:g.119852C>A (rs2271725) 3352, NG_012300.1:g.10653G>A (rs951781) 3353, NC_000008.11:g.76851837C>T (rs28376707) 3354, NC_000007.14:g.23689312T>C (rs35495590) 3355, NG_008318.1:g.14743G>T (rs34544747) 3356, NC_000011.10:g.124023412A>G (rs12366219) 3357, NC_000019.10:g.8261982C>A | NC_000019.10:g.8261982C>G | NC_000019.10:g.8261982C>T (rs17160348) 3358, NG_012002.1:g.5046C>T (rs2297339) 3359, HBB:c.40G>A (Hb Tower Hamlets) 3360, NG_000006.1:g.32709_42418del (9.7 kb deletion) 3361, HBB:c.417dupT (CD 138/139 (+T)) 3362, HBA2:c.104T>C (Hb Bass Hill) 3363, HBA2:c.100T>C (Hb Worthing) 3364, HBB:c.100G>T (Hb Venissieux) 3365, HBA2:c.301-24delGinsCTCGGCCC (IVS II-119 (-G) (+CTCGGCCC)) 3366, HBD:c.11T>C (Hb A2-Sile) 3367, HBB:c.200A>T (Hb Vigo) 3368, HBB:c.163G>A (Hb Askew) 3369, HBG2:c.191A>T (Hb F-Circleville) 3370, HBB:c.[421G>A;418_420delAAT] (Hb Templeuve) 3371, HBB:c.236T>C (Hb Penang) 3372, HBD:c.47G>T (Hb A2-Stockholm) 3373, HBA1:c.202delA (CD 67 ACC>-CC) 3374, HBB:c.[219T>A;220G>T] (Hb South China) 3375, HBB:c.400G>T (Hb Miringa) 3376, HBD:c.433A>G (Hb A2-Angola) 3377, HBB:c.263C>G (Hb Saint Jean d Ardieres) 3378, HBA1:c.344C>A (Hb Hubei) 3379, HBA2:c.418A>C (Hb Jilin) 3380, HBA1:c.382A>G (Hb Shantou) 3381, HBA2:c.203C>T (Hb Sichuan) 3382, HBA2:c.133C>T (Hb Xuchang) 3383, HBD:c.275T>C (Hb A2-Courbevoie) 3384, HBB:c.332T>G (Hb London-Ontario) 3385, HBB:c.311T>A (Hb Gavle) 3386, HBB:c.-126C>A (-76 C>A) 3387, HBD:c.110C>G (Hb A2-Sanremo) 3388, HBB:c.419A>G (Hb Emilia) 3389, HBG2:c.269G>A (Hb F-Careggi) 3390, 3390 (Hb Palencia) 3391, HBB:c.316-202del (IVS II-648/649 (-T)) 3392, HBB:c.242A>G (Hb Moncloa) 3393, NC_000011.10:g.5224302_5227791del (3.5 kb deletion) 3394, NC_000011.10:g.5010012_5232933del (223 kb deletion) 3395, HBA1:c.49A>T (CD 16 AAG>TAG [Lys>STOP]) 3396, HBA2:c.96-5C>A (Hb Beach Haven) 3397, HBA2:c.154G>T (Hb Hunan) 3398, HBB:c.439C>A (Hb Pusan) 3399, HBB:c.30delT (Hb Antep) 3400, HBB:c.442T>C (Hb Zunyi) 3401, HBB:c.29C>T (Hb Hengyang) 3402, HBA2:c.30C>A (Hb Zhaoqing) 3403, HBA2:c.118_119insA (CD 39 +A) 3404, HBA2:c.400_406del (Hb Aalesund) 3405, HBA2:c.142_161del (CD 47-53 (-20bp): (-GACCTGAGCCACGGCTCTGC)) 3406, HBD:c.209G>A (Hb A2-Gebenstorf) 3407, NC_000016.10:g.46628_126325del ((αα)JS) 3408, NC_000016.10:g.147589_207883del (--60.2) 3409, HBB:c.[79G>A;92+7A>G] (Hb E-Udon Thani) 3410, NC_000006.12:g.135110502T>C (rs9494142) 3411, NG_000007.3:g.41555G>A (rs2855121) 3412, NG_011968.1:g.65716T>C (rs766431) 3413, NC_000006.12:g.135087978A>G (rs6913541) 3414, NC_000006.12:g.135093655A>G (rs9494139) 3415, NC_000006.12:g.135131014G>A (rs6569992) 3416, NG_011968.1:g.87237T>G (rs12477097) 3417, NG_000007.3:g.33868T>C | NG_000007.3:g.33868T>G (rs4348933) 3418, NG_011968.1:g.47126T>C (rs189984760) 3419, NC_000006.12:g.135094070G>A (rs2210366) 3420, NC_000006.12:g.135124310C>T (rs9376093) 3421, NC_000006.12:g.135136933T>C (rs2078213) 3422, NC_000006.12:g.135116248T>C (rs1320959) 3423, NC_000006.12:g.135119519A>T | NC_000006.12:g.135119519A>G (rs6924609) 3424, NC_000006.12:g.135121387T>C (rs9483791) 3425, NC_000006.12:g.135124676T>A (rs9376094) 3426, NC_000006.12:g.135126635T>C (rs9321485) 3427, NC_000006.12:g.135126682T>C (rs9321486) 3428, NC_000006.12:g.135128177C>T (rs9494149) 3429, NC_000006.12:g.135129617T>C (rs9376095) 3430, NC_000006.12:g.135134191A>G (rs9385716) 3431, HBA1:c.95+38C>T (IVS I-38 C>T) 3432, 3432 (Hkαα) 3433, 3433 (anti-Hkαα) 3434, HBA1:c.264C>G (Hb Lansing-Ramathibodi) 3435, 3435 (Gγ-Atlanta HPFH) 3436, 3436 (Yugoslavian non-deletional HPFH) 3437, HBB:c.7delC (Hb Bundelkhand) 3438, NC_000001.11:g.152350656G>T (rs12568784) 3440, NG_000006.1:g.32745_36301del (-αMAL3.5) 3441, HBD:c.179delA (CD 59 AAG>A-G) 3442, HBA1:c.157_180dupTCTGCCCAGGTTAAGGGCCACGGC (Hb Choisy) 3443, HBB:c.*96T>C (Cap +1570 (T>C)) 3444, HBB:c.443A>C (Hb Kanagawa) 3445, HBB:c.92+13G>T (IVS I-13 G>T) 3446, HBB:c.316-272G>T (IVS II-579 G>T) 3447, NC_000013.11:g.32443800T>A (rs35108810) 3448, NC_000013.11:g.98176963C>T (rs16955011) 3449, NC_000007.14:g.2239684G>A (rs55904231) 3450, NC_000019.10:g.33026609C>T (rs28626308) 3451, NG_011844.2:g.38134A>G (rs17843865) 3452, NG_051819.1:g.5672C>T (rs61750777) 3453, NG_016743.1:g.16343G>C (rs11053646) 3454, NC_000010.11:g.100499576C>G (rs11819496) 3455, NC_000019.10:g.18911007C>T (rs34510432) 3456, NC_000007.14:g.106018005G>A (rs6967330) 3457, NC_000002.12:g.67404993C>T (rs3770655) 3458, NC_000001.11:g.1179319G>A (rs113596156) 3459, NG_033919.2:g.546967G>A (rs869801) 3460, NG_047119.1:g.14532A>G (rs899441) 3461, NC_000017.11:g.62736109C>T (rs116835087) 3462, NG_052801.1:g.73041A>G (rs11972142) 3463, NG_016139.1:g.22583C>T (rs16859886) 3464, HBB:c.-48A>T (CAP +3 A>T) 3465, NC_000011.10:g.5008473C>T (rs2445284) 3466, NC_000001.11:g.150889484G>A (rs10399947) 3467, NC_000002.12:g.60921853C>G (rs34661029) 3468, NG_008294.1:g.43268G>C (rs17749316) 3469, NG_042235.1:g.34942T>C (rs13021001) 3470, NC_000003.12:g.546765A>G (rs6778854) 3471, NG_029729.1:g.96079G>C (rs3910551) 3472, NG_016009.1:g.31061T>C (rs5030094) 3473, NG_008750.1:g.47471C>G (rs10478813) 3474, NG_016148.1:g.12545A>G (rs5576) 3475, NC_000011.10:g.113899633G>A (rs1176758) 3476, NG_013011.1:g.5570T>A (rs6309) 3477, NC_000016.10:g.23821750C>A (rs9927848) 3478, NG_012969.1:g.16095T>G (rs12447481) 3479, NC_000020.11:g.32752550T>C (rs6141803) 3480, NG_012857.1:g.401T>G (rs16998437) 3481, NG_029975.1:g.2726A>G (rs540006) 3482, HBA2:c.340C>T (Hb Pretoria) 3483, HBB:c.364delG (Hb Mahasarakham) 3484, HBB:c.91delA (CD 30 (-A) or IVS I (-2) AGG>-GG) 3485, NG_013087.1:g.6518T>C (CD 182 TTC>CTC [Phe>Leu]) 3486, NG_013087.1:g.7172delA (CD 314 GAA>GA-) 3487, HBA2:c.47G>T (Hb Liaoning) 3488, HBA2:c.116C>A (Hb Pescara) 3489, HBA2:c.127T>G (Hb Huaxi) 3490, HBD:c.394C>G (Hb A2-Puer) 3491, NG_012856.2:g.40068G>A (rs2076086) 3492, NC_000004.12:g.54496017A>G (rs17084406) 3493, NG_041939.1:g.118978G>A (rs3218108) 3494, HBB:c.148T>C (Hb Yunnan) 3495, HBD:c.198G>T (Hb A2-Yunnan) 3496, HBD:c.32C>T (Hb A2-Canakkale) 3497, NC_000002.12:g.102168373A>G (rs3917296) 3498, NG_008842.2:g.54401T>G (rs324035) 3499, NC_000003.12:g.155522876C>T (rs10513478) 3500, NC_000004.12:g.2681328A>G (rs11732673) 3501, NC_000004.12:g.37914606C>T (rs6858735) 3502, NC_000004.12:g.186544810G>A (rs13113915) 3503, NG_007083.2:g.590532G>A (rs10942625) 3504, NG_008421.1:g.3873T>C (rs1851426) 3505, NG_029445.1:g.117539A>G (rs7034457) 3506, NG_012633.1:g.11442C>A (rs7899453) 3507, NG_029120.1:g.95564G>A (rs11817401) 3508, NG_012969.1:g.41011A>G (rs9933611) 3509, NC_000011.10:g.103991948 (rs17101814) 3510, NC_000017.11:g.76405440C>T (rs445683) 3511, NC_000019.10:g.10325886C>T (rs7507634) 3512, NG_028264.1:g.39392A>G (rs2872817) 3513, HBB:c.27delG (CD 8 AAG>AA-) 3514, 3514 (170 kb deletion) 3515, NG_006669.2:g.24188G>A (rs8176743) 3516, NC_000002.12:g.46120653T>G (rs2218660) 3517, NC_000006.12:g.109301379A>T (rs11153167) 3518, NG_001113.6:g.3014G>A (rs2523554) 3519, NC_000016.10:g.58297869T>C (rs11859733) 3520, NC_000017.11:g.40004501C>T (rs8070454) 3521, NC_000003.12:g.169827864G>T (rs10936603) 3522, NG_015888.1:g.155282A>G (rs11981340) 3523, NC_000012.12:g.4225142G>C (rs7138216) 3524, NC_000008.11:g.115685828C>A (rs16887645) 3525, NG_008958.1:g.35707C>A (rs3729569) 3526, NC_000004.12:g.137491375A>G (rs9760319) 3527, NG_008631.1:g.15510T>C (rs1977081) 3528, NG_021216.1:g.48908A>G (rs739496) 3529, NC_000006.12:g.31677649C>G (rs9469032) 3530, NG_012136.1:g.8828T>G (rs13091574) 3531, NC_000006.12:g.33038445G>A (rs9277053) 3532, NC_000010.11:g.70171322G>A (rs56291099) 3533, NC_000010.11:g.70170898C>A (rs56303718) 3534, NC_000010.11:g.70171015C>A (rs55890525) 3535, NC_000010.11:g.70170483A>C | NC_000010.11:g.70170483A>G | NC_000010.11:g.70170483A>T (rs56381518) 3536, NC_000010.11:g.70151278_70151284del (rs1479076497) 3537, NC_000010.11:g.70151277_70151284del (rs1180306451) 3538, NC_000010.11:g.70151258C>A | NC_000010.11:g.70151258C>T (rs2394643) 3539, NC_000010.11:g.70151008A>G (rs115340990) 3540, NC_000010.11:g.70151276_70151284del (rs1482813291) 3541, NC_000011.10:g.5450602A>G (rs7938426) 3542, NC_000011.10:g.5450516G>A (rs7948471) 3543, NG_011485.1:g.37107A>C (rs656525) 3544, NG_050579.1:g.9354A>G (rs1526083) 3545, NG_050579.1:g.44506A>G (rs12536620) 3546, HBD:c.391delT (Hb A2-Gaslini 1) 3547, HBD:c.269G>A (Hb A2-Pistoia) 3548, NG_011884.2:g.23061A>G (rs933224) 3549, NG_011992.1:g.11166_11192[4] (27bp-VNTR) 3550, NG_033271.1:g.10912C>T (rs3191333) 3551, NG_011982.1:g.[13259C>T;19253A>G] (FCGR2C.nc-ORF) 3552, NG_007084.2:g.[7903T>C;8041C>T] (APOE ε4) 3553, NG_008196.1:g.5226G>A (rs1800450) 3554, NG_008196.1:g.5235G>A (rs1800451) 3555, HBB:c.374dup (CD 124 (+C)) 3556, HBB:c.373C>A (Hb Gibbon) 3557, HBA1:c.130T>C (Hb Vanvitelli) 3558, HBB:c.316-30A>C (IVS II-821 (A>C)) 3559, HBB:c.196A>G (Hb Guangxi) 3560, HBA1:c.158C>G (Hb Dongguan) 3561, HBB:c.9delT (CD 2 CAT/CA-) 3562, HBB:c.-248A>G (-198 A>G) 3563, HBB:c.379delG (CD 126 GTG>-TG) 3564, HBA2:c.3G>C (Init CD ATG>ATC [Met>Ile]) 3565, HBB:c.92+6T>G (IVS I-6 (T>G)) 3566, HBG2:c.74G>A (Hb F-Wentzville) 3567, HBB:c.139G>C (Hb Cenxi) 3568, HBA2:c.85delG (CD 28 GCC>-CC) 3569, HBA2:c.268_280delCACAAGCTTCGGG (CD 89-93 (-13bp): (-CACAAGCTTCGGG)) 3570, NC_000011.10:g.(4302665_4322227)_(6099443_6100105)del (1.78Mb εγδβ(0) del) 3571, HBB:c.151A>G (CD 50 ACT>GCT [Thr>Ala]) 3572, HBA2:c.272_279delAGCTTCGG (CD 90‐92 (-8bp): (‐AGCTTCGG)) 3573, NG_000007.3:g.27282dup (rs3834466) 3574, NG_000007.3:g.49047T>G | NG_000007.3:g.49047T>A (rs28440105) 3575, NG_000007.3:g.58388A>T | NG_000007.3:g.58388A>G (rs968857) 3576, NG_000007.3:g.71055G>C (rs10768683) 3577, NC_000011.10:g.5236469_5295261del (59 Kb deletion) 3578, NC_000011.10:g.4052720_6253287del (2.2 Mb deletion) 3579, NC_000004.12:g.122088578T>C (rs3115229) 3580, NG_009015.2:g.16571G>A (rs1050828) 3581, NG_009015.2:g.17296A>T | NG_009015.2:g.17296A>G (rs1050829) 3582, HBB:c.316-272G>C (IVS II-579 G>C) 3583, HBA2:c.320T>G (Hb Beckett) 3584, NC_000009.12:g.107487224C>T (rs2236599) 3585, NG_033271.1:g.7618G>A (rs980112) 3586, HBB:c.258T>G (Hb Kennisis) 3587, HBA2:c.277C>G (Hb Leeuwarden) 3588, NC_000016.10:g.0_318541del (--OY) 3589, HBB:c.187_198delGCTCATGGCAAG (CD 62-65 (-12bp)) 3590, NG_009062.1:g.119579G>A (rs33389) 3591, NG_009062.1:g.64074T>C (rs2963155) 3592, NG_009062.1:g.52918A>G (rs9324918) 3593, HBB:c.272A>C (Hb Shenzhen) 3594, HBB:c.[130G>T;217dupA] (CD 43 (GAG>TAG);CD 71/72 (+A)) 3595, NC_000016.10:g.144215_188843del (Hb Chiang Rai) 3596, NG_000007.3:g.(41526_42954)_(48036_49186)del (Gγ duplication) 3597, HBB:c.[79G>A;313A>G] (Hb E-Gurdaspur) 3598, HBD:c.282_283delTG (CD 93/94 (-TG) [Cys>STOP]) 3599, HBA2:c.40G>T (Hb Binyang) 3601, HBD:c.-180A>G (-130 A>G) 3602, HBD:c.-94G>A (-44 G>A) 3603, NG_000006.1:g.29785_36746del (-α6.9) 3604, HBA2:c.1A>G (Init CD ATG>GTG [Met>Pro]) 3605, HBB:c.*132C>T (3'UTR +132 C>T) 3606, NC_000011.10:g.5241050_5418009del (177 Kb deletion) 3607, NC_000016.10:g.(143655_149367)_(181204_206338)del (63 Kb deletion) 3608, HBG2:c.[152C>G;227T>C] (Hb F-Madrid) 3609, HBB:c.62_65delTGGA (CD 20/21 (-TGGA)) 3610, HBA2:c.298A>T (CD 99 AAG>TAG [Lys>STOP]) 3611, HBA2:c.325A>G (CD 108 ACC>GCC [Thr>Ala]) 3612, HBA2:c.383A>T (CD 127 AAG>ATG [Lys>Met]) 3613, HBA2:c.389T>G (CD 129 CTG>CGG [Leu>Arg]) 3614, HBA1:c.-24C>G (CAP +14 C>G) 3616, HBB:c.316-42delG (IVS II-809 (-G)) 3617, HBD:c.16C>A (Hb A2-Partinico) 3618, NC_000021.9:g.46599326G>A (rs9722) 3619, NC_000021.9:g.46602317C>G (rs1051169) 3620, NC_000021.9:g.46598630C>T (rs9983698) 3621, NC_000021.9:g.46602608G>T (rs11911834) 3622, NC_000016.10:g.138971_210817del (--71.8 (71.8 Kb deletion)) 3623, HBA2:c.49A>C (Hb Heilongjiang) 3624, HBA1:c.182A>G (Hb Liuzhou) 3625, NC_000021.9:g.46603603G>A (rs2154586) 3626, HBA1:c.165G>T (Hb Goole) 3627, HBB:c.-31delC (CAP +20 (-C)) 3628, HBD:c.46T>C (Hb A2-Utah) 3629, HBB:c.193G>A (Hb Hezhou) 3630, HBA1:c.271A>C (Hb Luocheng) 3631, 3631 (Hb Sallanches) 3632, HBB:c.231_232insT (CD 76/77 (+T)) 3633, HBB:c.315+144T>A (IVS II-144 T>A) 3634, HBB:c.315+202T>A (IVS II-202 T>A) 3635, HBB:c.81G>A (CD 26 GAG>GAA) 3636, HBB:c.313delA (CD 104 (-A)) 3637, NC_000006.12:g.71067268G>A (rs11968814) 3638, NG_012265.1:g.105961T>C (rs1318772) 3639, NC_000004.12:g.120592060A>G (rs10017284) 3640, NC_000007.14:g.138726680C>T (rs3800569) 3641, NC_000004.12:g.120041230G>T (rs1845344) 3642, NC_000001.11:g.220828445G>A (rs2279638) 3643, NC_000002.12:g.23325743A>C (rs2577720) 3644, NC_000005.10:g.113660957T>C (rs17135859) 3645, NC_000009.12:g.29336305A>G (rs16914695) 3646, NG_029143.1:g.228883A>G (rs11071959) 3647, NC_000006.12:g.147857222G>A (rs3850229) 3648, NC_000005.10:g.52622080G>T (rs830868) 3649, NC_000022.11:g.50560753C>T (rs140518) 3650, NC_000003.12:g.56843760C>T (rs10510789) 3651, HBB:c.354C>G (Hb Murcia) 3653, NG_008376.3:g.6047G>A (rs3892097) 3654, NG_013339.2:g.5001A>T (rs7943316) 3655, NG_013339.2:g.4760C>T (rs1001179) 3656, NG_011775.4:g.48426G>A (rs2298720) 3657, HBA2:c.[79G>A;391G>C] (Hb Southern Italy) 3658, NC_000007.14:g.71006906C>T (rs1949857) 3659, NC_000018.10:g.50309414G>T (rs9304395) 3660, NC_000004.12:g.120560795G>A (rs4395533) 3661, NC_000009.12:g.131960810T>C (rs7032759) 3662, NC_000005.10:g.171841199C>T (rs6891834) 3663, NC_000016.10:g.(47217_113592)_(113687_143639)del (HS-40 deletion) 3664, NC_000018.10:g.62620051T>C (rs10439027) 3665, NC_000016.10:g.78654247T>C (rs2113120) 3666, NC_000012.12:g.11899768G>A (rs2954930) 3667, NC_000014.9:g.68506829A>G (rs757369) 3668, NG_033998.1:g.90878C>T (rs12412148) 3669, NC_000018.10:g.53658224G>A (rs1442080) 3670, NC_000001.11:g.226520780T>C (rs584297) 3671, HBB:c.-126C>T (-76 C>T) 3672, HBB:c.-123A>C (-73 A>C) 3673, HBB:c.-123A>G (-73 A>G) 3674, HBB:c.-113A>G (-63 A>G) 3675, 3675 (wild type) 3676, HBB:c.-24C>G (CAP +27 (C>G)) 3677, HBB:c.315+15C>T (IVS II-15 (C>T)) 3678, HBB:c.315+45A>G (IVS II-45 (A>G)) 3679, HBB:c.315+129G>A (IVS II-129 (G>A)) 3680, HBB:c.315+70G>A (IVS II-70 (G>A)) 3681, HBB:c.315+63T>C (IVS II-63 (T>C)) 3682, HBB:c.315+180T>C (IVS II-180 (T>C)) 3683, HBB:c.315+308delA (IVS II-308 (-A)) 3686, HBB:c.316-179A>C (IVS II-672 (A>C)) 3687, HBB:c.316-45G>C (IVS II-806 (G>C)) 3688, HBB:c.*21A>G (3'UTR +21 A>G) 3689, HBB:c.*261T>C (TTS +127 T>C) 3690, HBB:c.92+65G>A (IVS I-65 (G>A)) 3692, HBB:c.108delC (CD 35 (TAC>TA-)) 3693, HBA2:c.163delC (CD 54 CAG>-AG) 3694, HBA2:c.146T>A (Hb Ijselland) 3695, HBA1:c.396T>C (CD 131 TCT>TCC [Ser>Ser]) 3696, HBA2:c.285C>T (CD 94 GAC>GAT [Asp>Asp]) 3697, HBB:c.442T>A (Hb Mokum) 3698, NG_016419.1:g.49280T>C (rs16998911) 3699, HBA1:c.8T>C (Hb Kaiser West End) 3700, HBB:c.104T>C (Hb San Francisco-KP) 3701, NG_029039.1:g.9039A>G (rs9380142) 3702, NC_000012.12:g.10404445A>G (rs2246809) 3703, NC_000012.12:g.10392998A>T (rs2617160) 3704, NC_000012.12:g.10408225T>A (rs2617169) 3705, HBA2:c.217dup (CD 72 (+C)) 3706, NC_000019.10:g.10148923G>A (rs1160065459) 3707, NC_000002.12:g.15094029A>G (rs56737264) 3708, NC_000002.12:g.15102159G>A (rs67088901) 3709, NC_000005.10:g.159850278G>A (rs75853687) 3710, HBB:c.91A>T (Hb New Berlin) 3711, NC_000016.10:g.94096_147948del ((αα)YD) 3712, HBA2:c.422A>C (Hb Angers) 3713, HBA2:c.35A>C (CD 11 AAG>ACG [Lys>Thr]) 3714, HBA2:c.48_49insT (CD 15/16 (+T)) 3715, HBA2:c.59C>T (CD 19 GCG>GTG [Ala>Val]) 3716, HBA2:c.359C>A (CD 119 CCT>CAT [Pro>His]) 3717, HBA1:c.184del (CD 61 AAG>-AG) 3718, HBA1:c.287C>T (Hb Georgia) 3719, HBA1:c.2T>C (Init CD ATG>ACG [Met>Thr]) 3720, HBA2:c.6_7insTG (CD 1/2 (+TG)) 3721, HBB:c.43delC (CD 14 CTG>-TG) 3722, HBB:c.261delC (CD 86 GCC>GC-) 3723, HBA1:c.398T>C (CD 132 GTG>GCG [Val>Ala]) 3724, HBA1:c.410T>A (CD 136 CTG>CAG [Leu>Gln]) 3725, HBA2:c.-41C>G (-4 G>C) 3726, HBA2:c.-27T>A (Cap +11 T>A) 3727, HBA2:c.-15C>G (Cap +23 C>G) 3728, HBA2:c.-8A>C (Cap +30 A>C) 3729, HBA2:c.95+11_95+34del (IVS I-11 (-24bp)) 3730, HBA2:c.96-45G>A (IVS I-73 G>A) 3731, HBA2:c.300+34G>A (IVS II-34 G>A) 3732, HBA2:c.423C>T (CD 140 TAC>TAT [Tyr>Tyr]) 3733, HBA2:c.*82G>A (3'UTR +82 G>A) 3734, HBA2:c.*98T>C (3'UTR +98 T>C) 3735, HBA1:c.-15C>G (Cap +23 C>G) 3736, HBA1:c.300+55G>T (IVS II-55 G>T) 3737, HBA1:c.300+58G>A (IVS II-58 G>A) 3738, HBA1:c.301-9T>C (IVS II-141 T>C) 3739, HBA1:c.*134_*135insT (TTS +23 (+T)) 3740, HBA1:c.-42C>T (-5 C>T) 3741, NC_000011.10:g.72726251C>A (rs12275279) 3742, NC_000011.10:g.72733538T>C (rs7123876) 3743, NC_000011.10:g.72735686A>C | NC_000011.10:g.72735686A>G (rs12289259) 3744, NC_000011.10:g.72742805G>A (rs12272109) 3745, HBA2:c.95+1G>A (IVS I-1 G>A) 3746, NC_000011.10:g.72751589A>G (rs7122044) 3747, HBB:c.179A>T (Hb Dahua) 3748, HBA2:c.373T>A (Hb Huadu) 3749, HBA2:c224A>G (Hb Liangqing) 3750, HBB:c.346G>A (CD 115 GCC>ACC [Ala>Thr]) 3751, HBA1:c.367C>G (Hb Daxin) 3752, HBB:c.-149_-135delGTGGAGCCACACCCT (-99 to -85 (-15bp)) 3753, HBA2:c.*71G>C (3'UTR +71 G>C) 3754, HBA2:c.2T>A (Init CD ATG>AAG [Met>Lys]) 3755, HBA1:c.210C>T (CD 69 GCC>GCT [Ala>Ala]) 3756, HBA1:c.273G>C (Hb J-Broussais) 3757, HBA1:c.70G>C (Hb Memphis) 3758, HBA2:c.379G>A (Hb Tarrant) 3759, HBA1:c.223G>A (Hb G-Pest) 3760, HBA1:c.226G>A (Hb Matsue-Oki) 3761, HBA2:c.46G>C (Hb Ottawa) 3762, NM_000517.6(HBA2):c.22A>G (Hb Kurosaki) 3763, HBA2:c.133C>G (Hb Milne) 3764, HBA1:c.-41C>G (-4 G>C) 3765, HBA2:c.118_120del (Hb Taybe) 3766, HBA2:c.91G>C (Hb G-Honolulu) 3767, HBA1:c.91G>A (Hb O-Padova) 3768, HBA1:c.95+39C>T (IVS I-39 C>T) 3769, HBA2:c.95+36C>T (IVS I-36 C>T) 3770, HBA2:c.95+39C>T (IVS I-39 C>T) 3771, HBB:c.432C>T (CD 143 CAC>CAT [His>His]) 3772, HBB:c.316-37G>T (IVS II-814 (G>T)) 3773, HBB:c.316-184T>C (IVS II-667 (T>C)) 3774, HBB:c.315+70G>C (IVS II-70 (G>C)) 3775, HBB:c.315+26T>G (IVS II-26 (T>G)) 3776, HBB:c.288G>A (CD 95 AAG>AAA [Lys>Lys]) 3777, HBB:c.246C>G (CD 81 CTC>CTG [Leu>Leu]) 3778, HBB:c.207C>T (CD 68 CTC>CTT [Leu>Leu]) 3779, HBB:c.174C>T (CD 57 AAC>AAT [Asn>Asn]) 3780, HBB:c.171C>T (CD 56 GGC>GGT [Gly>Gly]) 3781, HBB:c.84C>T (CD 27 GCC>GCT [Ala>Ala]) 3782, NM_000558.5(HBA1):c.95+41G>T (IVS I-41 G>T) 3783, HBA2:c.300+64A>G (IVS II-64 A>G) 3784, HBB:c.402G>C (CD 133 GTG>GTC [Val>Val]) 3785, HBA2:c.-43G>C (-6 G>C) 3786, HBB:c.*129T>A (3'UTR +129 T>A) 3787, HBD:c.294C>T (CD 97 CAC>CAT [His>His]) 3788, HBA1:c.196G>C (Hb Maruchi) 3789, HBA1:c.382A>C (Hb Waikato) 3790, HBG2:c.-178C>T (-125 C>T) 3791, HBA2:c.34A>G (Hb Arbresle) 3792, NG_000007.3:g.63154_70565del (Hb Lepore-Hong Kong) 3794, HBB:c.10_11delinsAA (Hb Jiangnan) 3795, HBB:c.106T>G (Hb Oristano) 3796, HBB:c.316-135dupT (IVS II-716 (+T)) 3797, HBB:c.316-342delA (IVS II-509 (-A)) 3798, HBB:c.208G>T (Hb Miguel Servet) 3799, HBB:c.211G>A (Hb La Mesa) 3800, HBA2:c.242T>C (Hb Robbinsdale) 3801, HBA2:c.128A>G (Hb Hauteluce) 3802, HBA1:c.415T>G (Hb Paynesville) 3803, HBG2:c.239A>G (Hb F-Northerly Island) 3804, HBG2:c.42C>A (Hb F-Millennium Park) 3805, NG_000006.1:g.[34557A>G;37979_379996dup] (Poly A (AATAAA>AATAAG);CD 94 (+21 bp duplication)) 3806, HBD:c.135_145del (CD 44-48 (-CTTTGGGGATC)) 3807, NC_000001.11:g.206916626T>A (rs483850) 3808, NC_000002.12:g.104480671G>A (rs934956) 3809, NC_000003.12:g.21426209C>A (rs370898) 3810, NG_000007.3:g.60581A>G (rs3759073) 3811, NG_000007.3:g.53166C>T (rs11036431) 3812, NG_000007.3:g.46164G>A (rs2855036) 3813, NG_000007.3:g.44579G>A (rs2236794) 3814, NG_000007.3:g.48915C>G (rs2187608) 3815, NG_000007.3:g.43439A>G (rs2070973) 3816, NG_000007.3:g.42028C>A (rs2011051) 3817, HBB:c.14delC (CD 4 (-C)) 3818, NG_000007.3:g.36389T>G (rs10160820) 3819, NG_000007.3:g.36338A>G (rs7480802) 3820, NG_000007.3:g.27016T>A (rs3759069) 3821, NC_000016.10:g.35880_(232158_243266)del (--196) 3822, NC_000016.10:g.35880_(262740_268502)del (--227) 3823, NC_000011.10:g.5167971_5228123delinsA (60 kb deletion) 3824, NG_000007.3:g.2115C>G (rs7933082) 3825, NG_000007.3:g.466G>T (rs3888708) 3826, NC_000011.10:g.5297978A>G (rs6578598) 3827, NC_000011.10:g.5302158G>A (rs10837774) 3828, NC_000011.10:g.5469115G>A (rs449937) 3829, NC_000011.10:g.5469313C>T (rs366257) 3830, NC_000011.10:g.5471070A>T (rs446541) 3831, NC_000011.10:g.5452863A>G (rs2030090) 3832, NC_000011.10:g.5322517G>T (rs3886223) 3833, NC_000006.12:g.134986347T>G (rs4376364) 3834, NC_000007.14:g.103393310G>A (rs7804867) 3835, NC_000011.10:g.5169895_5248821delins5216274_5216309 (78.9 kb Gγ(Aγδβ)0 del) 3836, NC_000006.12:g.117323878C>T (rs545537) 3837, NC_000011.10:g.65204160G>C (rs678343) 3838, NC_000011.10:g.86474646A>G (rs638135) 3839, NC_000011.10:g.86480651C>T (rs632538) 3840, NC_000011.10:g.72980395T>C (rs593753) 3841, HBA2:c.46G>A (Hb Nanchang) 3842, HBD:c.404T>A (CD134 GTG>GAG [Val>Glu]) 3843, HBD:c.362A>C (Hb A2-Liangqing) 3844, HBD:c.262C>T (CD 87 CAG>TAG [Gln>STOP]) 3845, NG_000007.3:g.52118G>A (rs7924684) 3846, HBB:c.356_357delTT (CD 118 (-TT)) 3847, HBB:c.410G>T (Hb Bourg-en-Bresse) 3848, 3848 (-α4.2-Q-Thailand) 3849, NC_000011.10:g.(5200032_5215881)_(5288356_5295076)del (~72 kb εγδβ(0) del) 3850, HBB:c.10C>T (CD 3 CTG>TTG [Leu>Leu]) 3851, HBB:c.207C>A (CD 68 CTC>CTA [Leu>Leu]) 3852, HBA1:c.280G>A (Hb Qingcheng) 3854, HBB:c.199_202delAAAG (CD 66/67 (-AAAG)) 3855, HBB:c.181delG (CD 60 GTG>-TG [Val>STOP]) 3856, HBA1:c.121_126delAAGACC (CD 40-41 (-AAGACC)) 3857, NC_000006.12:g.135074410G>A (rs13220662) 3858, NC_000006.12:g.135118989A>C (rs1406811) 3859, NC_000002.12:g.60460824A>G (rs7569946) 3860, HBB:c.393T>G (CD 130 TAT>TAG [Tyr>STOP]) 3861, HBA1:c.263delA (CD 87 (-A)) 3862, HBA2:c.376dupC (CD 125 (+C)) 3863, HBB:c.*1G>A (3'UTR +1 G>A) 3864, HBA1:c.349G>T (CD 116 GAG>TAG [Glu>Stop]) 3865, HBG1:c.-272_-275dup (-219 (+AGCA)) 3866, HBB:c.316-192_187del (IVS II-659_664 (-GCAATA)) 3867, NG_000007.3:g.(63032_64585)_(71150_72080)del (>6.5 Kb deletion) 3868, NG_000007.3:g.(21655_27675)_(63032_64586)del (>35.3 Kb deletion) 3869, NG_000007.3:g.(27675_41485)_(71150_72080)dup (>29.5 Kb duplication) 3870, HBD:c.187G>C (CD 62 GCT>CCT [Ala>Pro]) 3871, 3871 (Unknown) 3872, NC_000002.12:g.60546217T>G (rs886037864) 3873, NC_000002.12:g.60546213C>A (rs886037865) 3874, NC_000002.12:g.60546158G>T (rs886037866) 3875, HBA1:c.225C>G (Hb Jishui) 3876, HBB:c.290T>G (Hb Laibin) 3877, HBA2:c.96-4G>T (IVS I-114 G>T) 3878, HBB:c.11T>G (Hb Sedgwick) 3879, HBA1:c.263A>T (Hb Padma River) 3880, NC_000011.10:g.5268823C>T (rs72872549) 3881, NC_000011.10:g.5270302G>A | NC_000011.10:g.5270302G>T (rs3759071) 3882, NC_000011.10:g.5234759T>A | NC_000011.10:g.5234759T>C (rs3813726) 3883, HBD:c.92+1G>C (IVS I-1 G>C) 3884, HBA2:c.245C>T (Hb Zhaotong) 3885, HBA2:c.54delC (CD 17 (-C)) 3886, NC_000016.10:g.44082_151511del ((αα)107kb deletion) 3887, HBG1:c.-417G>C (-365 G>C) 3888, HBB:c.291_294dup (CD 97/98 (+GCAC)) 3889, NC_000016.10:g.(48303_50379)_ (165612_167685)del ((αα)Aurora Borealis) 3890, HBA2:c.55G>T (Hb Jiujiang) 3891, HBG2:c.358G>C (Hb F-Pill Hill) 3892, HBG1:c.420T>G (Hb F-Streeterville) 3893, NC_000013.11:g.42573535T>C (rs9533156) 3894, NC_000008.11:g.118951813G>C (rs2073618) 3895, NC_000008.11:g.118952044G>A (rs2073617) 3896, HBB:c.399del (CD 132 (AAA>AA-)) 3897, HBA1:c.237C>A (Hb Qinzhou) 3898, NC_000001.11:g.100717840T>C (rs1409419) 3899, NC_000002.12:g.181461180C>T (rs3770138) 3900, NC_000002.12:g.181457493C>A (rs113276800) 3901, NC_000006.12:g.43846990C>A | NC_000006.12:g.43846990C>G | NC_000006.12:g.43846990C>T (rs77635018) 3902, NC_000006.12:g.43848086A>G | NC_000006.12:g.43848086A>T (rs116116525) 3903, NC_000006.12:g.43849865C>T (rs60503510) 3904, NC_000003.12:g.175698311A>G (rs190103771) 3905, NC_000001.11:g.91836023G>A | NC_000001.11:g.91836023G>C (rs3103333) 3906, NC_000006.12:g.143540230G>A (rs6930487) 3907, NC_000005.10:g.130208414A>G (rs1557759) 3908, NC_000022.11:g.34468965_34468966dup (rs201658643) 3909, NC_000014.9:g.21481668C>A (rs10142478) 3910, NC_000001.11:g.84130407A>G (rs2250806) 3911, NC_000006.12:g.135097900_135097901delinsA (rs796512567) 3912, NC_000006.12:g.135097850A>G (rs7776196) 3913, HBA2:c.322G>C (Hb Liaobu) 3914, HBA1:c.293A>G (Hb Northwood) 3915, NG_000006.1:g.34247_38050del;33845G>A (Hb Chad) 3916, HBA2:c.46G>T (Hb Orbassano) 3917, HBG1:c.202G>A (Hb Toms River) 3918, HBB:c.113G>T (Hb Alessandria) 3919, HBB:c.240C>A (Hb Kalundborg) 3920, HBG1:c.-420C>A (-368 C>A) 3921, NC_000011.10:g.116778201G>C (rs964184) 3922, HBA1:c.21C>G (Hb Brammer) 3923, HBA2:c.152A>C (Hb Porter Brook) 3924, HBA2:c.338A>C (Hb Beligneux) 3925, HBB:c.-92delC (-42 (-C)) 3926, HBB:c.-67A>G (-17 (A>G)) 3927, HBB:c.385delG (CD 128 GCT>-CT) 3928, HBB:c.316-99T>G (IVS II-752 T>G) 3929, HBB:c.*247T>C (TTS +113 T>C) 3930, HBB:c.*177dup (TTS +43 (+A)) 3931, HBB:c.*156G>C (TTS +22 G>C) 3932, HBB:c.*142T>C (TTS +8 T>C) 3933, HBB:c.*116dup (3'UTR +116 (+A)) 3934, HBB:c.366A>C (Hb Westport) 3935, NG_000007.3:g.2798_15161delinsAGAGCCCT (12.4 kb Mediterranean deletion) 3936, NG_000007.3:g.21088_24120del (Italian HS1) 3937, NC_000016.10:g.62166_250991del (188.7 kb dup) 3938, NC_000016.10:g.98546_219042del (120.5 kb dup) 3939, 3939 (~274 kb dup) 3940, HBB:c.[151A>T;316-197C>T] (Hb Zurich-Langstrasse) 3941, HBA2:c.44G>C (Hb Jax) 3942, HBA1:c.80C>G (CD 26 GCG>GGG [Ala>Gly]) 3943, HBG2:c.-253_-254dup (-200 (+CC)) 3944, HBB:c.194dup (CD 64 (+G)) 3945, NC_000016.10:g.163886_179768del (15.8 kb deletion) 3946, NC_000016.10:g.100600_116678del (16 kb HS-40 deletion) 3947, NC_000016.10:g.158664_185974del (27.3 kb deletion) 3948, 3948 (-α3.7αα (α triplication)) 3949, HBB:c.14C>T (Hb Fox Point) 3950, HBG2:c.422C>A (Hb F-Wyandotte) 3951, HBB:c.389_401del (Hb Phoenix) 3952, HBA2:c.256G>A (Hb G-Norfolk) 3953, HBA1:c.34A>C (Hb J-Wenchang-Wuming) 3954, HBA1:c.51G>C (Hb Beijing) 3955, 3955 (Siriraj I Gγ(Aγδβ)0) 3956, HBA1:c.314G>A (Hb Sallanches) 3957, NC_000016.10:g.52778_121630del (68.9 kb HS-40 deletion) 3958, NG_000007.3:g.65147_73407del (8.2 kb deletion) 3959, NG_000007.3:g.43348_48271del (HBG1-HBG2 deletion) 3960, HBD:c.90C>T (CD 29 GGC>GGT [Gly>Gly]) 3961, HBA2:c.369_370delinsGA (Hb Nanning) 3962, HBA1:c.172G>T (Hb Kirikiriroa) 3963, NC_000016.10:g.149860_182697del (32.8 kb deletion) 3964, NG_000007.3:g.63154_70565dup (Hb Anti-Lepore Liuzhou) 3965, HBB:c.255_264delinsTTTTTCTCAG (Hb Wanjiang) 3966, NG_000006.1:g.30779_36726del (5.9 kb deletion) 3969, HBB:c.134C>T (Hb Narges Lab) 3970, HBA2:c.354C>G (Hb Jendouba) 3971, NG_000007.3:g.58253_72837del (Tunisian (δβ)0) 3972, HBA1:c.423C>A (Hb Natal) 3973, NG_000006.1:g.[34099C>R;34247_38050del] (Hb G-Philadelphia) 3974, HBA2:c.249_252del (CD 82-83 (-CCTG)) 3975, HBD:c.295_297delGTGinsA (CD 98 (-GTG, +A)) 3976, HBA2:c.96-50G>A (IVS I-68 G>A) 3977, HBB:c.315+132G>C (IVS II-132 G>C) 3978, NC_000019.10:g.19465364C>T, NC_000019.10(NM_017660.5):c.19C>T (rs772591609) 3979, NC_000001.11:g.30936810_30936813del, NM_001020658.2(PUM1):c.3267_3270del (PUM1:p.H1090Pfs*16) 3980, HBB:c.425T>C (Hb Yoshkar-Ola) 3981, HBA1:c.16G>A (Hb Hengqin I) 3982, HBA1:c.334G>T (Hb Liuzhou-Yufeng) 3983, HBA2:c.16G>A (Hb Hengqin II) 3984, HBA2:c.41C>T (Hb Huidong) 3985, HBA2:c.76G>A (Hb Jinwan) 3986, HBA2:c.125C>A (Hb Zhuhai) 3987, HBA2:c.182A>G (Hb Liuzhou-Liyong) 3988, HBA2:c.295T>G (Hb Xiangzhou) 3989, HBA2: c.62A>T (Hb Hebei) 3990, HBB:c.-139_-138delAC (-89 to -88 (-AC)) 3991, HBA2:c.32T>A (Hb Chumphae) 3992, HBD:c.[249G>T;400G>A] (Hb A2-Roi-Et) 3993, HBA1:c.273G>T (Hb Guigang) 3994, NC_000016.10:g.172342_182690del (10.3 kb deletion) 3996, NC_000011.10:g.5226187_5231089del (4.9 Kb deletion) 3997, NC_000011.10:g.5222800_5230034del (7.2 kb deletion) 3998, 3998 (--259) 3999, NC_000013.11:g.20463469C>G (rs9315599) 4000, NC_000012.12:g.6078499G>T (rs2238104) 4001, NC_000015.10:g.78796665T>C (rs3743057) 4002, NC_000002.12:g.140335313A>G (rs1968911) 4003, NC_000014.9:g.77066345T>G (rs4903539) 4004, NC_000001.11:g.74527634A>G (rs7526762) 4005, HBA1:c.300+96G>C (IVS II-96 G>C) 4006, HBA1:c.23delA (CD 7 AAG>A-G) 4007, HBA1:c.211G>T (CD 70 GTG>TTG [Val>Leu]) 4008, HBA1:c.219delC (CD 72 CAC>CA-) 4009, HBA1:c.160G>A (CD53 GCC>ACC [Ala>Thr]) 4010, 4010 (αααα(anti-3.7)) 4011, HBA2:c.28A>T (CD 9 AAC>TAC [Asn>Tyr]) 4012, HBD:c.370A>G (Hb A2-Kuching) 4013, HBD:c.282T>G (Hb A2-Pontedera) 4014, NC_000016.10:g.(63142_63147)_(222524_222529)dup (αααα(159)) 4015, NC_000016.10:g.27301_286500del (--259) 4016, HBD:c.263A>G (Hb A2-Cremona) 4017, HBA1:c.418A>T (Hb Nivaria) 4018, HBB:c.*132C>G (3'UTR +132 C>G) 4019, NC_00016.10:g.154539_181778delinsTAACA (27.2 kb deletion (--27.2)) 4020, NC_00016.10:g.168803_183737del (14.9 kb deletion) 4021, NC_000006.12:g.136121468G>A (rs2209331) 4022, HBB:c.368T>G (Hb Tanah Merah) 4023, HBB:c.[79G>A;92+7A>T] (CD 26 GAG>AAG, IVS I-7 A>T) 4024, HBA2:c.46_47delinsC (CD 15 (-GG, +C)) 4025, HBB:c.*110del (Poly A (-T) AATAAA>AA-AAA) 4026, HBD:c.[139G>C;316-443A>G] (Hb A2-Malay) 4027, HBA2:c.400A>C (Hb Val de Marne) 4028, HBB:c.-136C>T (-86 C>T) 4029, HBD:c.118C>A (Hb A2-Chengdu) 4030, HBD:c.27G>C (Hb A2-Hengyang) 4031, HBD:C.290T>G (Hb A2-Hubei) 4032, HBD:c.243C>A (Hb A2-Lishui) 4033, HBD:c.*199G>T (Poly A +69 (G>T)) 4034, HBD:c.377A>G (Hb A2-Tongchuan) 4035, HBD:c.22G>A (Hb A2-Zhengzhou) 4036, HBD:c.197A>G (Hb A2-Zhaoqing) 4037, HBD:c.123G>T (Hb A2-Wuhan) 4038, HBD:c.299A>G (Hb A2-Wanxian) 4039, HBD:c.56T>G (Hb A2-Siping) 4040, HBB:c.315+143G>A (IVS II-143 G>A) 4041, NC_000016.10:g.173682_177493del (3.8 kb deletion) 4042, HBA1:c.301-31_301-24delinsG (IVS II-119 (-CTCGGCCC, +G)) 4043, HBA2:c.95+7C>T (IVS I-57 C>T) 4044, HBB:c.263_276del (CD 87-91 (-14 bp)) 4045, HBB:c.121A>G (Hb Montpellier) 4046, HBB:c.315+337A>G (IVS II-337 A>G) 4047, NC_000010.11:g.70151281A>C (rs1470556171) 4048, NC_000010.11:g.70150874G>A (rs1046747) 4049, NC_000010.11:g.70151213GT[1] | NC_000010.11:g.70151213GT[3] (rs80028936) 4050, NC_000009.12:g.69865524G>A (rs766003) 4051, NC_000007.14:g.114663134G>A (rs1563408) 4052, NC_000003.12:g.131033165A>G (rs903047) 4053, NC_000003.12:g.179633577C>T (rs6443662) 4054, NC_000004.12:g.9841226T>A (rs950310) 4055, NC_000005.10:g.143217725C>T (rs258824) 4056, NC_000006.12:g.2209343T>G (rs234915) 4057, NC_000016.10:g.(146281_146304)_(180074_180097)del (--PA) 4058, 4058 (--FG) 4059, 4059 (--Sciacca) 4060, NC_000016.10:g.10001_(284537_284542)del (--AG) 4061, NC_000016.10:g.(54016_55432)_(220780_223388)del (--Puglia) 4062, 4062 (285 kb deletion) 4063, HBA2:c.47delinsCC (CD 15 (-G, +CC)) 4064, HBB:c.330_332delinsCAGCACGATG (CD109/110 (-GCT +CAGCACGATG)) 4065, HBB:c.374delC (CD 124 (-C)) 4066, NC_000011.10:g.5216601_5227407del (10.8 kb deletion) 4067, HBB:c.93-2A>T (IVS I-129 (A>T)) 4068, HBA2:c.337delC (CD 112 CAC>-AC) 4069, HBD:c.139G>A (Hb A2-Yulin) 4070, HBA2:c.207del (CD 68 (-C)) 4071, HBA2:c.4del (CD 1 (-G)) 4072, HBA2:c.175C>A (Hb DG-Nancheng) 4073, NC_000016.10:g.39268_130758del ((αα)FJ) 4074, HBG1:c.-404A>G (-352 A>G) 4075, HBB:c.336dup (CD 111/112 (+C)) 4076, HBB:c.*96T>G (Cap +1570 (T>G)) 4077, HBA1:c.114del (CD 37 CCC>CC-) 4078, HBA1:c.325A>C (CD 108 ACC>CCC [Thr>Pro]) 4079, HBB:c.129T>A (Hb Suqian) 4080, HBB:c.227T>A (Hb Raklev) 4081, HBA1:c.239C>T (Hb Tangshan) 4082, NC_000016.10:g.158985_186051delinsCGGGAGGGA (--LAMPHUN) 4083, NC_000016.10:g.172367_177259delinsG (-(α)4.9) 4084, HBA1:c.401_407del (CD 133-135 (-7 bp, -GCACCGT)) 4085, HBA2:c.398dup (Hb Balkh) 4086, HBB:c.180del (CD 59 AAG>AA-, CD 59 (-G)) 4087, HBB:c.382_402del (CD 128-134 (-21bp): (-CAGGCTGCCTATCAGAAAGTG)) 4088, HBB:c.316-65T>A (IVS II-786 T>A) 4089, HBB:c.-19G>C (CAP +32 (G>C)) 4090, NC_000016.10:g.(162059_162078)_(179126_179145)del (--Mococa (17 kb deletion)) 4091, HBD:c.238G>A (Hb A2-Guangxi) 4092, HBD:c.230C>A (Hb A2-Moyen-Orient) 4093, HBA1:c.287delC (Hb Campania) 4094, HBB:c.163del (CD 54 GTT>-TT) 4095, NC_000016.10:g.127815_273190del (--Guigang (145 kb deletion)) 4096, NG_000007.3:g.63100_70511dup (Hb Anti-Lepore Laibin) 4097, HBD:c.52A>C (Hb A2-Laibin) 4098, HBA1:c.260T>C (Hb Thessaloniki) 4099, HBG2:c.67G>C (Hb F-Nancy) 4100, HBB:c.316C>G (Hb Odder) 4101, NC_000016.10:g.59867_224557dup (αααα(165)) 4102, HBA1:c.63C>G (Hb Ormylia) 4103, NC_000019.10(NM_006563.5):c.525_526insGCGCCGG (p.Gly176AlafsX179) 4104, HBB:c.444A>C (CD 147 TAA>ΑAC [Stop>Tyr]) 4105, HBB:c.338G>C (Hb Jiangxi) 4106, HBB:c.[70G>T;79G>A] (Hb E-Palmerston North) 4107, HBA2:c.142G>A (Hb Arya) 4108, HBB:c.31_32insT (CD 10 GCC>GTC [Ala>Val]) 4109, NG_000007.3:g.63511_70924del (Hb Lepore-Quanzhou) 4110, NC_000016.10:g.148636_295089del (146 kb deletion) 4111, HBA2:c.*91delT (Poly A (AATAAA>AAΑΑΑ)) 4112, HBB:c.115A>G (Hb Oviedo) 4113, HBB:c.358_365dup (Hb Nanjing) 4114, HBB:c.311T>C (Hb Koskullskulle) 4115, NC_000016.10:g.171252_216415del (45.2 kb deletion) 4116, HBA1:c.300G>C (Hb Fulton) 4117, HBA2:c.212T>A (Hb Jiangxi) 4118, HBB:c.28T>A (Hb Yichun) 4119, HBB:c.167T>C (Hb Jinxian) 4120, NC_000016.10:g.(?_47217)_(181171_206303)del (--LB) 4121, HBA2:c.88C>A (Hb Basurto) 4122, HBA1:c.100T>G (Hb Gurtubay) 4123, HBA2:c.176A>G (Hb Móstoles) 4124, HBA2:c.301-61G>C (IVS II-82 G>C) 4125, HBB:c.258del (CD 85 (-T)) 4126, HBA2:c.159T>G (CD 52 TCT>TCG [Ser>Ser]) 4127, HBB:c.246C>A (CD 81 CTC>CTA [Leu>Leu]) 4128, HBB:c.327C>T (CD 108 AAC>AAT [Asn>Asn]) 4129, HBB:c.315+252C>T (IVS II-252 C>T) 4130, HBA1:c.300+35G>A (IVS II-35 G>A) 4131, HBA2:c.316C>T (CD 105 CTG>TTG [Leu>Leu]) 4132, NC_000016.10:g.173301_177104del (3.8 kb deletion (Guizhou)) 4133, HBB:c.316-31C>T (IVS II-820 C>T) 4134, HBB:c.-23A>G (CAP +28 A>G) 4135, HBB:c.-107A>C (-57 A>C) 4136, HBB:c.-153C>A (-103 C>A) 4137, HBA2:c.297del (CD 98 TTC>TT-) 4138, NC_000016.10:g.170769_174300dupinsAAAAAA (ααα(anti4.2del726bp)) 4139, NC_000011.10:g.5096853_5234005del (Thai δβ0-thal (137.1 kb del)) 4140, HBA2:c.191C>G (Hb Guarda) 4141, HBD:c.398A>C (Hb A2-Getafe) 4142, HBA1:c.184A>C (Hb Romagna) 4143, HBA2:c.416C>G (Hb Ecuador [A2]) 4144, HBB:c.176_244dup (Hb Monza) 4145, NC_000016.10:g.165236_182113del (16.8 kb deletion) 4146, HBD:c.*200G>A (Poly A +70 (G>A)) 4147, NC_000011.10:g.5225669_5247554del (21.9 kb deletion) 4148, NC_000016.10:g.79903_181947dup (ααα102) 4149, HBB:c.57G>A (CD 18 GTG>GTA [Val>Val]) 4150, HBD:c.369_370insA (CD 122/123 (+A)) 4151, HBD:c.2T>C (Init CD ATG>ACG [Met>Thr]) 4152, HBB:c.92+9C>T (IVS I-9 (C>T)) 4153, HBB:c.-256C>G (-206 C>G) 4154, HBD:c.-326A>G (-276 A>G) 4155, HBB:c.375_376delAC (CD 124/125 (-AC)) 4156, HBB:c.24G>C (CD 7 GAG>GAC [Glu>Asp]) 4157, HBB:c.4G>C (Hb Yongning) 4158, HBD:c.277C>T (Hb A2-Nanning) 4159, HBD:c.149C>G (Hb A2-Guangdong) 4160, HBD:c.186G>T | HBD:c.186G>C (Hb A2-Jinxiu) 4161, HBB:c.341T>G (Hb Hefei) 4162, HBD:c.349C>A (Hb A2-Shenzhen) 4163, HBD:c.201G>C (Hb A2-Zhanjiang) 4164, NC_000011.10:g.5159177_5242755del (83 kb deletion) 4165, NC_000016.10:g.23682_263534del (240 kb deletion) 4166, NC_000016.10:g.167676_195747del (28.1 kb deletion) 4167, HBA2:c.16delG (CD 5 GCC>-CC) 4168, NC_000016.10:g.154355_165114del (-ζ10.7 kb) 4169, NC_000016.10:g.47840_180168del (132 kb deletion) 4170, HBD:c.17C>T (Hb A2-Guigang) 4171, HBD:c.290T>C (Hb A2-Liuzhou) 4172, HBD:c.374C>T (Hb A2-Wuzhou) 4173, HBD:c.-134C>T (-84 (C>T)) 4174, HBA1:c.*115_116insT (TTS +4/5 (+T)) 4175, HBA1:c.*150C>A (TTS +39 C>A) 4176, HBA1:c.389_395delinsAGGTAT (CD 129-131 (-TGGCTTC, +AGGTAT)) 4177, HBA2:c.153_154insGACCTG (Hb Baise) 4178, NG_000007.3:g.64637_72002del (Bhutan-Nepal β-thal deletion) 4179, HBA2:c.365T>A (HbA2 Penedès) 4180, HBG2:c.308A>G (Hb F-SickKids) 4181, HBA1:c.95+9C>T (IVS I-9 C>T) 4182, HBB:c.184_186dupAAG (Hb Chaiyaphum) 4185, HBA1:c.379G>A (Hb Tarrant-Thailand) 4186, HBB:c.247A>T (CD 82 AAG>TAG [Lys>STOP]) 4187, NC_000016.10:g.147495_188130del (--40.6 kb) 4188, NC_000016.10:g.30357_249981del (--219 kb)