Variant classification
Individual variants
Globin phenotype
α0 β0 β+ δ0 δ+
Variant (IthaID)
1, HBB:c.-240G>A (-190 (G>A)) 3, HBB:c.-151C>T (-101 (C>T)) 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)) 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)) 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)) 34, HBB:c.-50A>C (CAP +1 (A>C)) 35, HBB:c.-43C>T (CAP +8 (C>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) 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) 54, HBB:c.17_18delCT (CD 5 -CT) 56, HBB:c.19G>T (CD 6 (GAG>TAG)) 57, HBB:c.20delA (CD 6 -A) 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)) 64, HBB:c.30dupT (Hb Gaziantep) 65, HBB:c.33C>A (CD 10 GCC>GCA [Ala>Ala]) 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)) 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]) 79, HBB:c.59A>G (Hb Malay) 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)) 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)) 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)) 126, HBB:c.94delC (CD 31 (-C)) 128, HBB:c.110del (CD 36 CCT>C-T) 129, HBB:c.102_104del (Hb Korea) 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)) 142, HBB:c.118C>T (CD 39 CAG>TAG [Gln>STOP]) 143, HBB:c.123delG (CD 40 (-G)) 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)) 155, HBB:c.143dup (CD 47 (+A)) 156, HBB:c.143_146dupATCT (CD 47/48 (+ATCT)) 157, HBB:c.150delC (CD 49 (-C)) 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)) 170, HBB:c.182T>A (Hb Cagliari) 171, HBB:c.189_195delTCATGGC (CD 62-64 (-7bp)) 174, HBB:c.199A>T (CD 66 AAA>TAA [Lys>STOP]) 176, HBB:c.216dupT (CD 71 (+T)) 177, HBB:c.217dupA (CD 71/72 (+A)) 179, HBB:c.226delC (CD 75 (-C)) 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)) 187, HBB:c.255dupC (CD 84/85 (+C)) 188, HBB:c.258dupT (CD 84-86 (+T)) 189, HBB:c.266dupT (CD 88 (+T)) 191, HBB:c.270_271del (CD 89/90 (AGTGAG>AGAG)) 192, HBB:c.271G>T (CD 90 GAG>TAG) 194, HBB:c.275dupT (CD 91 (+T)) 196, HBB:c.287dupA (CD 95 (+A)) 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) 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)) 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) 217, HBB:c.316-14T>G (IVS II-837 (T>G)) 218, HBB:c.316-8T>G (IVS II-843 (T>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)) 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)) 231, HBB:c.323dupG (CD 107 (+G)) 233, HBB:c.328delG (Hb Manhattan) 234, HBB:c.332T>C (Hb Showa-Yakushiji) 235, HBB:c.339T>A (CD 112 (TGT>TGA)) 237, HBB:c.344T>C (Hb Durham-N.C.) 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) 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) 262, HBB:c.397A>T (CD 132 (AAA>TAA)) 267, HBB:c.*6C>G (3'UTR +6 C>G) 269, HBB:c.*93_*105delATCTGGATTCTGC (3'UTR -13 bp [CAP +1567 to +1579]) 272, HBB:c.*110T>C (Poly A (T>C) AATAAA>AACAAA) 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)) 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) 286, NG_000007.3:g.71609_72227del619 (619 bp deletion) 288, NG_000007.3:g.70060_71452del1393 (Black, British) 294, NG_000007.3:g.(67531_67533)_(77874_77876)del (Asian Indian) 298, NC_000011.10:g.5112882 _5231358del (Filipino) 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) 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) 318, NC_000016.10:g.(169756_170100)_(179044_181595)del (--SPAN) 320, NC_000016.10:g.155501_184801del (--BRIT) 322, NC_000016.10:g.(158380_161516)_ (186053_?) (--CI) 323, NG_000006.1:g.8464_40664del32201 (--CAL) 330, NG_000006.1:g.(31695_31724)_(42846_42867)del (--11.1) 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) 345, NG_000006.1:g.[33776A>G;34247_38050del] (-α3.7;Init CD ATG>GTG) 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) 353, HBA2:c.69delC (CD 22 -C) 354, HBA2:c.70G>T (CD 23 GAG>TAG [Glu>STOP]) 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) 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) 366, HBA2:c.95G>A (CD 31 AGG>AAG [Arg>Lys]) 367, HBA2:c.99G>A (Hb Amsterdam) 369, HBA2:c.106T>C (Hb Evora) 371, HBA1:c.118_120del (Hb Taybe) 372, NG_000006.1:g.34010_34018delinsTACTTCCC (CD 39-41 (-9 bp, + 8 bp)) 377, HBA2:c.179G>A (Hb Adana) 378, HBA1:c.179G>A (Hb Adana) 379, HBA2:c.178G>C (Hb Zurich-Albisrieden) 384, HBA2:c.190T>C (Hb Dartmouth) 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)) 392, HBA2:c.301-1G>A (IVS II-142 G>A) 393, HBA1:c.301-2A>G (IVS II-148 A>G consensus) 396, HBA2:c.314G>A (Hb Sallanches) 397, HBA2:c.326C>A (Hb Bleuland) 398, HBA1:c.328delC (Hb Sciacca) 405, HBA2:c.349G>T (CD 116 GAG>TAG) 406, HBA1:c.358C>T (Hb Groene Hart) 408, HBA2:c.377T>C (Hb Quong Sze) 409, HBA2:c.377T>G (Hb Plasencia) 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) 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--)) 441, HBA1:c.17C>A (Hb J-Toronto) 444, HBA1:c.19G>C (Hb Galliera I) 448, HBA1:c.20A>T | HBA2:c.20A>T (Hb Ferndown) 450, HBA1:c.22A>G (Hb Kurosaki) 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) 461, HBA2:c.38C>A (Hb J-Paris-I) 465, HBA1:c.46G>C (Hb Ottawa) 467, HBA2:c.49A>G (HbI) 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) 479, HBA2:c.63C>A (Hb Le Lamentin) 481, HBA2:c.64G>C (Hb Fontainebleau) 483, HBA1:c.68G>A | HBA2:c.68G>A (Hb J-Medellin) 494, HBA2:c.80C>A (Hb Shenyang) 495, HBA2:c.82G>A (Hb Shuangfeng) 502, NM_000558.5(HBA1):c.91G>C (Hb G-Honolulu) 509, HBA1:c.104T>G (Hb Queens) 511, HBA2:c.107C>A (Hb Shinagawa) 532, HBA1:c.134C>G | HBA2:c.134C>G (Hb Kawachi) 541, HBA2:c.142G>C (Hb Hasharon) 543, HBA2:c.142G>T (Hb Kurdistan) 548, HBA2:c.150C>A |HBA2:c.150C>G (Hb Savaria) 553, HBA1:c.154G>A (Hb Riccarton) 567, HBA1:c.171G>C | HBA1:c.171G>T (Hb Belliard) 570, HBA2:c.175C>T (Hb M-Boston) 578, HBA1:c.183G>T (Hb Zambia) 581, HBA2:c.185A>C (Hb J-Anatolia) 585, NM_000558.5(HBA1):c.191C>A (Hb Pontoise) 587, HBA1:c.193G>C (Hb Q-India) 588, HBA2:c.193G>A (Hb G-Waimanalo) 593, HBA2:c.205A>G (Hb Ube-2) 596, HBA2:c.207C>A (Hb G-Philadelphia) 603, HBA1:c.217C>T | HBA2:c.217C>T (Hb Fuchu-I) 605, HBA2:c.219C>A (Hb Gouda) 607, HBA1:c.223G>C (Hb Q-Thailand) 611, HBA2:c.226_228del (Hb Watts) 613, HBA2:c.226G>C (Hb Q-Iran) 626, HBA2:c.[237C>A ;237C>G] (Hb Stanleyville-II) 627, HBA1:c.238G>A | HBA2:c.238G>A (Hb Mantes-La-Jolie) 634, HBA1:c.248C>A | HBA2:c.248C>A (Hb Garden State) 640, HBA1:c.256G>T | HBA2:c.256G>T (Hb Atago) 664, HBA2:c.273G>T (Hb J-Broussais) 666, HBA2:c.275T>C (Hb Port Phillip) 668, HBA1:c.278G>A (Hb J-Cape Town) 673, HBA2:c.283G>T (Hb Setif) 674, HBA2:c.283G>A (Hb Titusville) 675, HBA2:c.283G>C (Hb Sunshine Seth) 678, HBA1:c.284A>G (Hb Çapa) 680, HBA2:c.286C>G (Hb Denmark Hill) 688, HBA2:c.294C>A (Hb Dallas) 691, HBA1:c.300G>T (Hb Beziers) 692, HBA2:c.307A>C (Hb Manitoba I) 693, HBA1:c.309C>A (Hb Manitoba II) 709, HBA1:c.338A>G | HBA2:c.338A>G (Hb Strumica) 712, HBA1:c.341T>A | HBA2:c.341T>A (Hb Twin Peaks) 720, HBA1:c.349G>A (Hb O-Indonesia) 723, HBA1:c.349_357dup (Hb Grady) 724, HBA1:c.354_355insATC (Hb Phnom Penh) 727, HBA2:c.362C>A (Hb J-Meerut) 728, HBA1:c.364G>A (Hb Owari) 730, HBA2:c.369C>G (Hb Westmead) 756, HBA1:c.401G>A | HBA2:c.401G>A (Hb Saclay) 757, HBA2:c.402C>A (Hb Val de Marne) 767, HBA1:c.412A>C (Hb Verona) 773, NM_000558.5(HBA1):c.419A>C (Hb Tokoname) 775, HBA2:c.420delA (Hb Wayne) 779, NM_000558.3(HBA1):c.424C>G (Hb J-Camagüey) 780, HBA2:c.424C>T (Hb Nunobiki) 790, HBB:c.4G>A (Hb South Florida) 793, HBB:c.5T>C (Hb Raleigh) 796, HBB:c.8A>C (Hb Marseille) 799, HBB:c.8A>G (Hb Deer Lodge) 800, HBB:c.9T>A | HBB:c.9T>G (Hb Okayama) 806, HBB:c.16C>G (Hb Gorwihl) 810, HBB:c.19G>A (HbC) 814, HBB:c.[20A>T;399A>C] (Hb S-South End) 824, HBB:c.20A>T (HbS) 826, HBB:c.20A>C (Hb G-Makassar) 829, HBB:c.22G>A (Hb G-Siriraj) 830, HBB:c.23A>G (Hb G-San José) 835, HBB:c.26A>G (Hb Lucknow) 841, HBB:c.32C>T (Hb Iraq-Halabja) 842, HBB:c.32C>A (Hb Ankara) 843, HBB:c.34G>A (Hb Hamilton) 848, HBB:c.41C>A (Hb J-Lens) 854, HBB:c.50G>A (Hb J-Baltimore) 861, HBB:c.58A>G (Hb Alamo) 863, HBB:c.60C>A | HBB:c.60C>G (Hb D-Ouled Rabah) 867, HBB:c.64G>T (Hb Yusa) 873, HBB:c.67G>C (Hb D-Iran) 874, HBB:c.67G>A (Hb E-Saskatoon) 876, HBB:c.68A>C (Hb G-Coushatta) 877, HBB:c.68A>G (Hb G-Taipei) 885, HBB:c.73G>C (Hb Riverdale-Bronx) 891, HBB:c.[79G>A;314G>C] (CD 26 GAG>AAG [Val>Lys], CD 104 AGG>ACG [Arg>Thr]) 893, HBB:c.80A>G (Hb Aubenas) 901, HBB:c.86T>C (Hb Genova) 907, HBB:c.93G>T (Hb Tacoma) 916, HBB:c.100G>A (Hb Rio Claro) 939, HBB:c.122G>A (Hb Athens-GA) 952, HBB:c.131A>G (Hb Haringey) 953, HBB:c.131A>C (Hb G-Galveston) 960, HBB:c.142G>A (Hb G-Copenhagen) 962, HBB:c.142G>T (Hb Maputo) 966, HBB:c.146T>G (Hb Okaloosa) 969, HBB:c.149C>T (Hb Las Palmas) 970, HBB:c.151A>T (Hb Zurich-Langstrasse) 974, HBB:c.155C>G (Hb Willamette) 977, HBB:c.157G>A (Hb Osu Christiansborg) 980, HBB:c.158A>T (Hb Akron) 982, HBB:c.160G>A (Hb Acharnes) 988, HBB:c.170G>A (Hb J-Bangkok) 991, HBB:c.172A>G (Hb J-Daloa) 994, HBB:c.176C>A (Hb Sheffield) 995, HBB:c.176C>G (Hb Dhofar) 996, HBB:c.178A>G (Hb I-High Wycombe) 998, HBB:c.180G>C | HBB:c.180G>T (Hb J-Lome) 1021, HBB:c.202G>A (Hb Alesha) 1023, HBB:c.203T>G (Hb Manukau) 1030, HBB:c.208G>A (Hb City of Hope) 1032, HBB:c.209G>A (Hb Rambam) 1035, HBB:c.212C>G (Hb Hershey) 1036, HBB:c.212C>T (Hb Marineo) 1040, HBB:c.220G>A (Hb G-Accra) 1045, HBB:c.223G>A (Hb Kokomo) 1053, HBB:c.229G>C (Hb Calais) 1055, HBB:c.230C>A (Hb J-Chicago) 1058, HBB:c.232C>G (Hb J-Iran) 1064, HBB:c.238G>A (Hb Yaizu) 1068, HBB:c.243C>G (Hb G-Szuhu) 1079, HBB:c.251G>A (Hb Pyrgos) 1088, HBB:c.262A>C (Hb Valletta) 1090, HBB:c.263C>A (Hb D-Ibadan) 1095, HBB:c.269G>A (Hb Créteil) 1097, HBB:c.271G>A (Hb Agenogi) 1101, HBB:c.275T>C (Hb Sabine) 1119, HBB:c.286A>G (Hb N-Baltimore) 1131, HBB:c.295G>A (Hb Köln) 1152, HBB:c.308A>G (Hb Beth Israel) 1154, HBB:c.309C>A | HBB:c.309C>G (Hb Richmond) 1159, HBB:c.314G>C (Hb Sherwood Forest) 1162, HBB:c.315G>C (Hb Camperdown) 1163, HBB:c.316C>T (Hb South Milwaukee) 1171, HBB:c.325A>C (Hb Shizuoka) 1187, HBB:c.341T>A (Hb New York) 1190, HBB:c.343C>A (Hb Zengcheng) 1196, HBB:c.349C>T (Hb Rhode Island) 1217, HBB:c.364G>C (Hb D-Punjab) 1218, HBB:c.364G>A (Hb O-Arab) 1225, HBB:c.371C>A (Hb Ernz) 1228, HBB:c.374C>A (Hb Ty Gard) 1229, HBB:c.374C>T (Hb Tende) 1233, HBB:c.380T>C (Hb Beirut) 1234, HBB:c.380T>A (Hb Hofu) 1235, HBB:c.380T>G (Hb Dhonburi) 1244, HBB:c.388G>C (Hb Crete) 1245, HBB:c.389C>T (Hb La Desirade) 1250, HBB:c.392A>C (Hb Nevers) 1261, HBB:c.400G>A (Hb La Pommeraie) 1263, HBB:c.404T>C (Hb Yaounde) 1269, HBB:c.409G>A (Hb Perpignan) 1272, HBB:c.410G>A (Hb Hope) 1274, HBB:c.415G>C (Hb Brockton) 1291, HBB:c.427G>A (Hb Inglewood) 1303, HBB:c.433A>G (Hb Mito) 1311, HBB:c.438T>A (Hb McKees Rocks) 1319, HBB:c.440_441dupAC (Hb Tak) 1322, HBD:c.-127T>C (-77 T>C) 1324, HBD:c.-118C>T (-68 (C>T)) 1326, HBD:c.-105T>C (-55 (T>C)) 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)) 1339, HBD:c.295G>A (Hb A2-Wrens) 1340, HBD:c.315+1G>A (IVS II-1 G>A) 1354, HBD:c.39T>A (Hb A2-NYU) 1356, HBD:c.49G>C (Hb A2' or Hb B2) 1360, HBD:c.77G>A (Hb A2-Yokoshima) 1372, HBD:c.208G>C (Hb A2-Indonesia) 1376, HBD:c.257T>C (Hb A2-Etolia) 1384, HBD:c.349C>T (Hb A2-Troodos) 1385, HBD:c.350G>A (Hb A2-Coburg) 1390, HBD:c.410G>A (Hb A2-Babinga) 1392, HBD:c.425T>C (Hb A2-Pelendri) 1399, NG_000007.3:g.63632_71046del (Hb Lepore-Boston-Washington) 1405, NG_000007.3:g.63461_70874dup (Hb P-Nilotic) 1498, NG_000007.3:g.48194_70985del (Hb Kenya) 1501, NC_000011.10:g.5194459_5244226del (Indian HPFH-3) 1504, NC_000011.10:g.5172745_5252029del (SE Asian, Thai (Aγδβ)0) 1505, NC_000011.10:g.5201647_5229059del (South East Asian (SEA) deletion) 1507, NG_000007.3:g.64336_77738del (Sicilian (δβ)0) 1509, NC_000011.10:g.5144331_5237241del (Spanish (δβ)0) 1513, NG_000007.3:g.64384_76993del (Thai/Vietnamese (δβ)0) 1519, 1519 (Indian (Aγδβ)0 (inv)) 1527, NC_000011.10:g.5169918_5248821del (Chinese (Aγδβ)0) 1528, NC_000011.10:g.5182845_5249973del (Yunnanese (Aγδβ)0) 1534, NC_000011.8:g.5204501_5300223del (Anglo-Saxon (εγδβ)0) 2050, HBB:c.180G>A (CD 59 AAG>AAA [Lys>Lys]) 2054, HBB:c.315+74T>G (IVS II-74 T>G) 2056, HBB:c.316-185C>T (IVS II-666 (C>T)) 2150, NG_000007.3:g.69997_71353del1357 (1357 bp deletion) 2171, HBB:c.-121C>T (-71 C>T) 2176, HBB:c.-12C>T (CAP +39 C>T) 2177, HBB:c.*32A>C (3'UTR +32 A>C) 2180, HBB:c.18_19delTG (CD 5/6 -TG) 2196, HBB:c.393T>A (CD 130 TAT>TAA [Tyr>STOP]) 2200, HBB:c.316-98_316-86dup (IVS II-765 L1 insertion (+CTGCTTTTATTTT)) 2203, HBA1:c.-9G>C (CAP +29 (G>C)) 2209, HBA2:c.98T>G (Hb Rotterdam) 2225, HBA1:c.*96G>A (Poly A (G>A) AATAAAG>AATAAAA) 2226, HBA2:c.*46C>A (3'UTR +46 C>A) 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) 2236, NG_000006.1:g.7622_41156del (--DUTCH I) 2292, HBD:c.60C>A (Hb Famagusta) 2309, HBD:c.244C>T (Hb A2-St. George's) 2316, NM_000558.5(HBA1):c.343C>G (Hb Broomhill) 2327, HBB:c.10C>A (Hb Niguarda) 2328, HBD:c.7C>A (Hb A2-Calderdale) 2329, HBD:c.157G>C (Hb A2-Walsgrave) 2331, HBB:c.106T>C (Hb Fulwood) 2364, HBB:c.433A>T (Hb Cambridge-MA) 2381, HBA1:c.98T>A (Hb Queens Park) 2393, HBB:c.119delA (CD 39 -A) 2404, HBB:c.317T>C (Hb Bellevue IV) 2420, HBA2:c.313T>C (Hb Iberia) 2433, HBA2:c.40_45delGCCTGG (Hb Souli) 2438, HBA2:c.69_77delCGAGTATGG (Hb Zhanjiang) 2451, HBA1:c.96-2A>G (IVS I-116 A>G) 2454, HBB:c.260C>T (Hb Izmir) 2460, HBA2:c.2T>G (Init CD ATG>AGG [Met>Arg]) 2465, HBA2:c.60delG (CD 19 GCG>GC-) 2467, HBA1:c.298A>T (CD 99 AAG>TAG) 2473, HBD:c.316-2A>G (IVS II-897 A>G) 2475, NG_000006.1:g.[14373_36299del21927; insGGGAAGGGTGGGTGGGAATAACAGCTTTT] (21.9 kb deletion with 29 bp insertion) 2483, HBA2:c.95+1G>T (IVS I-1 G>T) 2487, HBA2:c.94A>G (Hb Maranon) 2494, HBB:c.-35A>G (CAP +16 A>G) 2509, HBA1:c.49A>G (HbI) 2518, HBA2:c.45G>A (CD 14 TGG>TGA) 2528, HBA1:c.193G>A (Hb G-Waimanalo) 2536, HBB:c.-21T>A (CAP +30 T>A) 2538, HBA2:c.77G>A (Hb Cibeles) 2561, NG_000006.1:g.34247_38050dup (ααα(anti-3.7)) 2562, NC_000016.10:g.(?_53625)_(113702_143677)del ((αα)HS40del) 2569, NG_000006.1:g.(31957_31978)_(34525_34544)dup (ααα(anti-4.2)) 2951, HBA2:c.356C>T (Hb Cervantes) 2952, HBA2:c.275T>G (Hb La Mancha) 2955, HBA2:c.149_172del (Hb Goya) 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)) 2967, HBA2:c.-59C>T (-22 C>T) 2983, HBA1:c.84G>T (Hb Hekinan II) 2997, HBB:c.-122T>A (-72 T>A) 3011, HBB:c.315+81C>T (IVS II-81 (C>T)) 3013, HBB:c.316-208C>G (IVS II-643 (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) 3033, HBA2:c.95+27C>T (IVS I-27 C>T) 3035, HBB:c.79G>C (Hb King's Mill) 3036, HBA1:c.354_355insTCA (Hb Wexham) 3037, HBA2:c.55G>C (Hb Handsworth) 3045, HBB: c.316-3C>T (IVS II-848 C>T) 3059, HBB:c.-148T>A (-98 T>A) 3060, HBB:c.-92C>G (-42 C>G) 3062, HBB:c.-80delT (-30 (-T)) 3063, HBA2:c.300+55T>G (IVS II-55 T>G) 3064, HBA2:c.52G>T (Hb Dapu) 3066, HBB:c.93-23T>C (IVS I-108 T>C) 3069, HBB:c.-127G>C (-77 G>C) 3080, HBA2:c.283_300+3dup (Hb SKMC) 3133, HBB:c.[315+1G>A; 274C>T] (IVS II-1 G>A and CD 91 CTG>TTG [Leu>Leu]) 3180, HBB:c.*62A>G (3'UTR +62 A>G) 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) 3230, HBD:c.347C>T (CD 115 GCC>GTC [Ala>Val]) 3239, HBD:c.127T>C (Hb A2-Huadu) 3250, HBA1:c.2delT (Init CD ATG>A-G) 3252, HBA1:c.99G>A (Hb Amsterdam-A1) 3286, HBA2:c.184A>T (CD 61 AAG>TAG [Lys>STOP]) 3287, HBB:c.268_281delAGTGAGCTGCACTG (CD 89-93 (-14bp): (-AGTGAGCTGCACTG)) 3299, HBB:c.235dupC (CD 77/78 (+C)) 3342, HBB:c.188C>T (Hb Hachioji) 3365, HBA2:c.301-24delGinsCTCGGCCC (IVS II-119 (-G) (+CTCGGCCC)) 3371, HBB:c.236T>C (Hb Penang) 3393, NC_000011.10:g.5224302_5227791del (3.5 kb deletion) 3431, HBA1:c.95+38C>T (IVS I-38 C>T) 3432, 3432 (Hkαα) 3441, HBD:c.179delA (CD 59 AAG>A-G) 3482, HBA2:c.340C>T (Hb Pretoria) 3490, HBD:c.394C>G (Hb A2-Puer) 3495, HBD:c.198G>T (Hb A2-Yunnan) 3558, HBB:c.316-30A>C (IVS II-821 (A>C)) 3559, HBB:c.196A>G (Hb Guangxi) 3565, HBB:c.92+6T>G (IVS I-6 (T>G)) 3576, NG_000007.3:g.71055G>C (rs10768683) 3595, NC_000016.10:g.144215_188843del (Hb Chiang Rai) 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) 3605, HBB:c.*132C>T (3'UTR +132 C>T) 3609, HBB:c.62_65delTGGA (CD 20/21 (-TGGA)) 3627, HBB:c.-31delC (CAP +20 (-C)) 3631, 3631 (Hb Sallanches) 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) 3673, HBB:c.-123A>G (-73 A>G) 3674, HBB:c.-113A>G (-63 A>G) 3686, HBB:c.316-179A>C (IVS II-672 (A>C)) 3687, HBB:c.316-45G>C (IVS II-806 (G>C)) 3692, HBB:c.108delC (CD 35 (TAC>TA-)) 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-) 3745, HBA2:c.95+1G>A (IVS I-1 G>A) 3756, HBA1:c.273G>C (Hb J-Broussais) 3758, HBA2:c.379G>A (Hb Tarrant) 3759, HBA1:c.223G>A (Hb G-Pest) 3766, HBA2:c.91G>C (Hb G-Honolulu) 3775, HBB:c.315+26T>G (IVS II-26 (T>G)) 3786, HBB:c.*129T>A (3'UTR +129 T>A) 3835, NC_000011.10:g.5169895_5248821delins5216274_5216309 (78.9 kb Gγ(Aγδβ)0 del) 3841, HBA2:c.46G>A (Hb Nanchang) 3848, 3848 (-α4.2-Q-Thailand) 3850, HBB:c.10C>T (CD 3 CTG>TTG [Leu>Leu]) 3863, HBB:c.*1G>A (3'UTR +1 G>A) 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)) 3980, HBB:c.425T>C (Hb Yoshkar-Ola) 4010, 4010 (αααα(anti-3.7)) 4028, HBB:c.-136C>T (-86 C>T) 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))
