IthaGenes

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Showing all Globin gene causative mutations (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
3675	wild type	N/A	N/A			,
3871	Unknown	N/A	N/A			,
3998	--259	N/A	N/A			,
3396	IVS I-113 C>A	Hb Beach Haven	HBA2:c.96-5C>A	α3.7 hybrid	Causative	Haemolytic anaemia	NG_000006.1
3407	(αα)JS	N/A	NC_000016.10:g.46628_126325del	HS40, NPRL3	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1
3588	--OY	N/A	NC_000016.10:g.0_318541del	HS40, ζ, α2, α1	Causative	α-thalassaemia	NG_000006.1
3622	--71.8 (71.8 Kb deletion)	N/A	NC_000016.10:g.138971_210817del	ζ, α2, α1	Causative	α-thalassaemia	NG_000006.1
3631	-α3.7;CD 104 TGC>TAC	Hb Sallanches	N/A	α3.7 hybrid	Causative	α-thalassaemia	NG_000006.1
3663	HS-40 deletion	N/A	NC_000016.10:g.(47217_113592)_(113687_143639)del	HS40	Causative	α-thalassaemia	NG_000006.1
3711	(αα)YD	N/A	NC_000016.10:g.94096_147948del	HS40	Causative	α-thalassaemia	NG_000006.1
3821	--196	N/A	NC_000016.10:g.35880_(232158_243266)del	HS40, ζ, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1
3822	--227	N/A	NC_000016.10:g.35880_(262740_268502)del	HS40, ζ, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1
3886	(αα)107kb deletion	N/A	NC_000016.10:g.44082_151511del	HS40, NPRL3	Causative	α-thalassaemia	NG_000006.1
3889	(αα)Aurora Borealis	N/A	NC_000016.10:g.(48303_50379)_ (165612_167685)del	HS40, ζ, NPRL3, HBM	Causative	α-thalassaemia	NG_000006.1
3946	16 kb HS-40 deletion	N/A	NC_000016.10:g.100600_116678del	HS40, NPRL3	Causative	α-thalassaemia	NG_000006.1
3957	68.9 kb HS-40 deletion	N/A	NC_000016.10:g.52778_121630del	HS40, NPRL3	Causative	α-thalassaemia	NG_000006.1
4015	--259	N/A	NC_000016.10:g.27301_286500del	HS40, ζ, α2, α1, NPRL3	Causative	α-thalassaemia	NG_000006.1
4058	--FG	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia	NG_000006.1
4059	--Sciacca	N/A	N/A	α2, α1	Causative	α-thalassaemia	NG_000006.1
4060	--AG	N/A	NC_000016.10:g.10001_(284537_284542)del	HS40, ζ, α2, α1, NPRL3, HBM	Causative	α-thalassaemia	NG_000006.1
4061	--Puglia	N/A	NC_000016.10:g.(54016_55432)_(220780_223388)del	HS40, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1
4062	285 kb deletion	N/A	N/A	HS40, ζ, α2, α1, HBM, AXIN1	Causative	α-thalassaemia	NG_000006.1
4073	(αα)FJ (--FJ)	N/A	NC_000016.10:g.39268_130758del	HS40	Causative	α-thalassaemia	NG_000006.1
4082	--LAMPHUN (27 kb deletion with 9 bp insertion (Lamphun deletion))	N/A	N/A	ζ, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1
4090	--Mococa (17 kb deletion)	N/A	NC_000016.10:g.(162059_162078)_(179126_179145)del	α2, α1	Causative	α-thalassaemia	NG_000006.1
4095	--Guigang (145 kb deletion)	N/A	NC_000016.10:g.127815_273190del	HS40, ζ, α2, α1, NPRL3, HBM	Causative	α-thalassaemia	NG_000006.1
348	-α3.7;CD 14 TGG>CGG	Hb Evanston	N/A	α1 or α2, α3.7 hybrid	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1
400	-α3.7;CD 109 CTG>CGG	Hb Suan Dok	N/A	α2, α3.7 hybrid	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1
410	-α3.7;CD 125 CTG>CAG [Leu>Gln]	N/A	N/A	α1 or α2, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1
2244	(αα)JM	N/A	NC_000016.10:48642_132584del	HS40, ζ, NPRL3	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1
2248	(αα)Sco	N/A	NC_000016.10:g.(93618_93635)_(141631_141648)del	HS40	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1
2252	--BR	N/A	NC_000016.10:g.11555_229482del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1
2268	--BA	N/A	NC_000016.10:g.0_772369del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1
2555	α12 (HBA2 gene conversion)	N/A	N/A	α2, α1	Causative	α-thalassaemia	NG_000006.1
2562	(αα)HS40del (deletion of HS-40 region, chr16:g.(?_103625)_(163701_193676)del [GRCh37(hg19)])	N/A	NC_000016.10:g.(?_53625)_(113702_143677)del	HS40	Causative	α-thalassaemia	NG_000006.1
3071	--235 (--175)	N/A	NC_000016.10:g.10001_185264del	HS40, ζ, α2, α1, NPRL3	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1
3275	(αα)ALT	N/A	NC_000016.10:g.113194_116554delins39	HS40	Causative	α-thalassaemia	NG_000006.1
3292	15 kb deletion	N/A	NC_000016.10:g.172736_187935del	α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1
3296	--GB	N/A	NC_000016.9:g.(161901_161910)_(178672_178681)del	α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1
2233	-ζ	N/A	N/A	ζ	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2234	-α16.6	N/A	NG_000006.1:g.(19842_19845)_(36479_36486)delins22446_24085inv	ζ, α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2235	α-αΔ970 (970 bp deletion)	N/A	NG_000006.1:g.36599_37568delinsTAG	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2236	--DUTCH I	N/A	NG_000006.1:g.7622_41156del	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2237	--AW	N/A	NG_000006.1:g.32143_40317delinsCTCCCTGGACAAGT	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2238	--BGS	N/A	NC_000016.10:g.47749_179374del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2239	--CAMPANIA	N/A	NC_000016.10:g.(8635_8924)_(39835_40133)del	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2240	--FIL-2 (27.9 deletion)	N/A	NC_000016.10:g.156188_184103del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2241	--ED	N/A	NC_000016.10:g.(110582_113386)_(187266_188773)del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2242	--GP	N/A	NC_000016.10:g.(43803_47123)_(187266_188649)del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2243	(αα)AS	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2245	(αα)MM	N/A	NC_000016.10:g.(?_53322)_(141396_143702)del	HS40	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2246	(αα)L	N/A	NC_000016.10:g.(?_55799)_(152345_162796)del	HS40	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2247	(αα)SN	N/A	N/A	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2249	(αα)ZW	N/A	NC_000016.10:g. 90778_106773del	HS40	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2250	(αα)RSR	N/A	N/A	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2251	(αα)MCu	N/A	N/A	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2253	--ZW	N/A	NC_000016.10:g.11555_229482del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2254	--JY	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2255	--LC	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2256	--VR	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2257	--JT	N/A	NC_000016.10:g.(44035_44092)_(312033_312090)del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2258	--AB	N/A	NC_000016.10:g.(?_55799)_(360870_410354)del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2259	--GZ	N/A	NC_000016.10:g.(?_53322)_(879639_910965)del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2260	Dutch II	N/A	NC_000016.10:g.(?_55799)_(284538_298092)del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2261	--MK	N/A	NC_000016.10:g.(113696_130566)_(298093_ 331093)del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2262	--80	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2264	--Brazil	N/A	NC_000016.10:g.(?_55799)_(986613_1063737)del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2265	--PV	N/A	NC_000016.10:g.(?_55799)_(1625950_1740473)del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2266	--HN	N/A	NC_000016.10:g.(?_55799)_(1923864_ 1939057)del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2267	--FT	N/A	NC_000016.10:g.(?_55799)_(1857769_1890275)del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2269	--TN	N/A	NC_000016.10:g.0_976709del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2270	--BO	N/A	NC_000016.10:g.0_1896761del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2271	--IM	N/A	NC_000016.10:g.0_2021644del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2272	--LIN	N/A	NC_000016.10:g.0_2023655del	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2273	--GS	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
3021	--JAL	N/A	NC_000016.10:g.(149437_149482)_(179595_179654)del	ζ, α2, α1	Causative	α-thalassaemia	NG_000006.1	0
3022	--LOD	N/A	NC_000016.10:g.(45349_45393)_(262286_262330)del	HS40, ζ, α2, α1	Causative	α-thalassaemia	NG_000006.1	0
3067	--MEX1	N/A	NG_000006.1:g.3(33114_33812)_(40649_42021)del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
3068	--MEX2	N/A	NC_000016.10:g.(113775_130542)_(208161_249560)del	HS40, ζ, α2, α1	Causative	α-thalassaemia	NG_000006.1	0
3074	(αα)JX	N/A	NC_000016.10:g.113161_113902del	HS40	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
3142	-α6.3	N/A	NG_000006.1:g.31022_37366del6344	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
3215	--Braz	N/A	NC_000016.10:g.(167305_169853)_(239884_271794)del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
3244	−KOZANI	N/A	NC_000016.10:g.(113686_143638)_(407521_?)del	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
3255	--MEX3	N/A	NC_000016.10:g.151479_182582del	ζ, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1	0
3258	--NFLD	N/A	NC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCA	α2, α1	Causative	α-thalassaemia	NG_000006.1	0
3273	--VS	N/A	NC_000016.10:g.(100364_105222)_(376261_986851)del	HS40, ζ, α2, α1, HBM, AXIN1	Causative	α-thalassaemia	NG_000006.1	0
3274	--CBR	N/A	NC_000016.10:g.(?_53322)_(177893_179815)del	HS40, ζ, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1	0
3283	--JS	N/A	NG_000006.1:g.35801_38338delinsGGCCTCCCAACGGGCCCTCCTCCCCTCCT	α2, α1	Causative	α-thalassaemia	NG_000006.1	0
3284	--PG	N/A	NC_000016.10:g.93628_542759del450131	HS40, ζ, α2, α1, NPRL3, HBM, AXIN1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
3293	97 kb deletion	N/A	NC_000016.10:g.56407_153678del	HS40	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
3295	225 kb deletion	N/A	NC_000016.10:g.56407_281805del	HS40, ζ, α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
3327	--GX	N/A	NC_000016.10:g.(41492_43628)_(247888_254167)del	HS40, ζ, α2, α1, NPRL3, HBM	Causative	α-thalassaemia	NG_000006.1	0
3440	-αMAL3.5	N/A	NG_000006.1:g.32745_36301del	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
3514	170 kb deletion	N/A	N/A	α2, α1, AXIN1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
306	-α7.9	N/A	NG_000006.1:g.28322_36260del	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
307	-α18 (18 kb deletion)	N/A	N/A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
316	-(α)5.2	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
322	--CI (28+ kb deletion.)	N/A	NC_000016.10:g.(158380_161516)_ (186053_?)	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
324	--115	N/A	NC_000016.10:g.(13158_13584)_(39907_41256)del	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
326	--YEM	N/A	NG_000006.1:g.(16201_17547)_(41420_42633)del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
329	--KOL	N/A	NC_000016.10:g.(151719_151746)_(185067_185093)del	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
330	--11.1 (11.1 kb deletion)	N/A	NG_000006.1:g.(31695_31724)_(42846_42867)del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
331	--OH	N/A	NC_000016.10:g.(149158_152418)_(249560_284571)del	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
332	(αα)RA	N/A	N/A	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
333	(αα)TI	N/A	NC_000016.10:g.10023_122854del	HS40	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
334	(αα)IJ	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
335	(αα)CMO	N/A	NC_000016.10:g.10018_157684del	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
336	(αα)TAT	N/A	NC_000016.10:g.10020_152823del	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
337	(αα)MB	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
338	(αα)IC	N/A	NC_000016.10:g.10018_131194delinsAC	HS40	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
339	(αα)IdF	N/A	NC_000016.10:g.10020_154449del	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
327	--MC	N/A	NC_000016.10:g.139301_182501del	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	164
3607	63 Kb deletion	N/A	NC_000016.10:g.(143655_149367)_(181204_206338)del	ζ, α2, α1	Causative	α-thalassaemia	NG_000006.1	4518
3595	--CR	Hb Chiang Rai	NC_000016.10:g.144215_188843del	ζ, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1	5078
3214	44.6 kb deletion	N/A	NC_000016.10:g.144215_188841del	ζ, α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	5078
2554	-α28.5	N/A	NG_000006.1g.7065_35627del28563	ζ, α2	Causative	α-thalassaemia	NG_000006.1	7065
4057	--PA	N/A	NC_000016.10:g.(146281_146304)_(180074_180097)del	ζ, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1	7144
3408	--60.2	N/A	NC_000016.10:g.147589_207883del	ζ, α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	8452
323	--CAL	N/A	NG_000006.1:g.8464_40664del32201	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	8464
313	--MED II	N/A	NG_000006.1:g.(7740_9712)_(39907_41156)del	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	8726
3020	--DANE	N/A	NG_000006.1: g.8800_40007del31208	ζ, α2, α1	Causative	α-thalassaemia	NG_000006.1	8800
2232	-α27.6	N/A	NG_000006.1:g.9079_36718del27640	ζ, α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	9079
4110	146 kb deletion	N/A	NC_000016.10:g.148636_295089del	ζ, α2, α1, HBM, AXIN1	Causative	α-thalassaemia	NG_000006.1	9499
3963	32.8 kb deletion	N/A	NC_000016.10:g.149860_182697del	ζ, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1	10723
310	--THAI	N/A	NC_000016.10:g.149863_183312del	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	10726
325	--RT	N/A	NC_000016.10:g.151401_188301del	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	12264
311	--FIL	N/A	NC_000016.10:g.151641_182316del	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	12504
321	--CL	N/A	NC_000016.10:g.152451_263801del	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	13314
2475	21.9 kb deletion with 29 bp insertion (Qinzhou type deletion)	N/A	NG_000006.1:g.[14373_36299del21927; insGGGAAGGGTGGGTGGGAATAACAGCTTTT]	ζ, α2	Causative	α-thalassaemia	NG_000006.1	14373
4019	27.2 kb deletion (--27.2)	N/A	NC_00016.10:g.154539_181778delinsTAACA	ζ, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1	15402
320	--BRIT	N/A	NC_000016.10:g.155501_184801del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	16364
314	-(α)20.5	N/A	NG_000006.1:g.(18148_18200)_(37868_37901)del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	18200
319	--MA	N/A	NG_000006.1:g.18964_39864del20901	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	18964
315	--SA	N/A	NC_000016.10:g.159052_182788delins139752_139596	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	19464
3947	27.3 kb deletion	N/A	NC_000016.10:g.158664_185974del	α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1	19527
3294	22 kb deletion	N/A	NG_000006.1:g.20350_42078del	α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	20350
312	--MED I	N/A	NG_000006.1:g.(23641_23662)_(41183_41203)del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	23662
3945	15.8 kb deletion (NG_000006.1:g.24749_40631del)	N/A	NC_000016.10:g.163886_179768del	α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1	24749
309	--SEA	N/A	NC_000016.10:g.165401_184701del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	26264
305	-α5.3	N/A	NG_000006.1:g.28684_33930del5246	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	28684
328	--CANT	N/A	NC_000016.10:g.(168531_169756)_(182770_183028)del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	29394
4020	14.9 kb deletion	N/A	NC_00016.10:g.168803_183737del	α2, α1	Causative	α-thalassaemia	NG_000006.1	29666
3603	-α6.9	N/A	NG_000006.1:g.29785_36746del	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	29785
318	--SPAN	N/A	NC_000016.10:g.(169756_170100)_(179044_181595)del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	30619
301	-α4.2	N/A	NC_000016.10:g.169818_174075del	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	30681
3966	5.9 kb deletion	N/A	NG_000006.1:g.30779_36726del	α2	Causative	α-thalassaemia	NG_000006.1	30779
3018	--NOR	N/A	NC_000016.10:g.170694_184101del	α2, α1	Causative	α-thalassaemia	NG_000006.1	31577
4115	45.2 kb deletion	N/A	NC_000016.10:g.171252_216415del	α2, α1	Causative	α-thalassaemia	NG_000006.1	32115
3360	9.7 kb deletion	N/A	NG_000006.1:g.32709_42418del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	32709
317	--GEO	N/A	NG_000006.1:g.32864_42264del9401	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	32864
3268	811 bp deletion	N/A	NG_000006.1:g.32945_33755	α2	Causative	α-thalassaemia	NG_000006.1	32945
3994	10.3 kb deletion	N/A	NC_000016.10:g.172342_182690del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33205
4083	-(α)4.9 (4.9 Kb deletion)	N/A	NC_000016.10:g.172367_177259delinsG	α2, α1	Causative	α-thalassaemia	NG_000006.1	33230
2988	-54 G>A	N/A	HBA2:c.-91G>A	α2	Causative	α-thalassaemia	NG_000006.1	33685
2967	-22 C>T	N/A	HBA2:c.-59C>T	α2	Causative	α-thalassaemia	NG_000006.1	33717
3725	-4 G>C	N/A	HBA2:c.-41C>G	α2	Causative	α-thalassaemia	NG_000006.1	33735
3726	Cap +11 T>A	N/A	HBA2:c.-27T>A	α2	Causative	α-thalassaemia	NG_000006.1	33749
3727	Cap +23 C>G	N/A	HBA2:c.-15C>G	α2	Causative	α-thalassaemia	NG_000006.1	33761
3728	Cap +30 A>C	N/A	HBA2:c.-8A>C	α2	Causative	α-thalassaemia	NG_000006.1	33768
3051	Init CD ACCATG>-CCATG	N/A	HBA2:c.-3delA	α2	Causative	α-thalassaemia	NG_000006.1	33773
346	-α3.7;Init CD ACCATG>--CATG	N/A	NG_000006.1:g.[33773_33774del;34247_38050del]	α2, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33773, 34247
344	Init CD ATG>-TG	N/A	HBA2:c.1delA	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33776
345	-α3.7;Init CD ATG>GTG	N/A	NG_000006.1:g.[33776A>G;34247_38050del]	α2, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33776, 34247
3604	Init CD ATG>GTG [Met>Pro]	N/A	HBA2:c.1A>G	α2	Causative	α-thalassaemia	NG_000006.1	33776
3050	Init CD ATG>TTG [Met>Leu]	N/A	HBA2:c.1A>T	α2	Causative	α-thalassaemia	NG_000006.1	33776
2460	Init CD ATG>AGG [Met>Arg]	N/A	HBA2:c.2T>G	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33777
342	Init CD ATG>ACG [Met>Thr]	N/A	HBA2:c.2T>C	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33777
343	Init CD ATG>A-G	N/A	HBA2:c.2delT	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33777
3754	Init CD ATG>AAG [Met>Lys]	N/A	HBA2:c.2T>A	α2	Causative	α-thalassaemia	NG_000006.1	33777
3564	Init CD ATG>ATC [Met>Ile]	N/A	HBA2:c.3G>C	α2	Causative	α-thalassaemia	NG_000006.1	33778
3027	Init CD ATG>ATT [Met>Ile]	Hb Valdecilla	HBA2:c.3G>T	α2	Causative	α-chain variant	NG_000006.1	33778
2306	CD 1 GTG>CTG (Val>Leu)	Hb St. Josef	HBA2:c.4G>C	α2	Causative	α-chain variant	NG_000006.1	33779
4071	CD 1 (-G)	N/A	HBA2:c.4del	α2	Causative	α-thalassaemia	NG_000006.1	33779
431	CD 1 GTG>ATG [Val>Met]	Hb A2-Fontanabuona	HBA2:c.4G>A	α2	Causative	α-chain variant	NG_000006.1	33779
432	CD 1 GTG>GGG [Val>Gly]	Hb Antananarivo	HBA1:c.5T>G \| HBA2:c.5T>G	α1, α1 or α2	Causative	α-chain variant	NG_000006.1	33780, 37584
433	CD 1 GTG>GAG [Val>Glu]	Hb Thionville	HBA1:c.5T>A \| HBA2:c.5T>A	α1 or α2	Causative	α-chain variant	NG_000006.1	33780, 37584
434	CD 1 GTG>GCG [Val>Ala]	Hb Lyon-Bron	HBA2:c.5T>C	α2	Causative	α-chain variant	NG_000006.1	33780
3720	CD 1/2 (+TG)	N/A	HBA2:c.6_7insTG	α2	Causative	α-thalassaemia	NG_000006.1	33781
2361	CD 2 CTG>CCG [Leu>Pro]	Hb Kaiser West End	HBA2:c.8T>C	α2	Causative	α-chain variant	NG_000006.1	33783
436	CD 3 TCT>CCT [Ser>Pro]	Hb Central Middlesex	HBA1:c.10T>C \| HBA2:c.10T>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33785, 37589
2371	CD 3 TCT>TGT [Ser>Cys]	Hb Teterboro	HBA2:c.11C>G	α2	Causative	α-chain variant	NG_000006.1	33786
2489	CD 3 TCT>TAT [Ser>Tyr]	Hb Tallahassee	HBA2:c.11C>A	α2	Causative	α-chain variant	NG_000006.1	33786
438	CD 4 CCT>CGT [Pro>Arg]	Hb Gorée	HBA2:c.14C>G	α2	Causative	α-chain variant	NG_000006.1	33789
439	CD 4 CCT>CAT [Pro>His]	Hb Bellevue	HBA2:c.14C>A	α2	Causative	α-chain variant	NG_000006.1	33789
440	CD 5 GCC>CCC [Ala>Pro]	Hb Karachi	HBA1:c.16G>C \| HBA2:c.16G>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33791, 37595
3983	CD 5 GCC>ACC [Ala>Thr]	Hb Hengqin II	HBA2:c.16G>A	α2	Causative	α-chain variant	NG_000006.1	33791
443	CD 6 GAC>AAC [Asp>Asn]	Hb Dunn	HBA1:c.19G>A \| HBA2:c.19G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	33794, 37598
445	CD 6 GAC>CAC [Asp>His]	Hb Galliera II	HBA2:c.19G>C	α2	Causative	α-chain variant	NG_000006.1	33794
446	CD 6 -GAC [-Asp]	Hb Boyle Heights	HBA1:c.19_21delGAC \| HBA2:c.19_21delGAC	α1 or α2	Causative	α-chain variant	NG_000006.1	33794, 37598
3038	CD 6 GAC>TAC [Asp>Tyr]	Hb Woodville	HBA2:c.19G>T	α2	Causative	α-chain variant	NG_000006.1	33794
447	CD 6 GAC>GGC [Asp>Gly]	Hb Swan River	HBA2:c.20A>G	α2	Causative	α-chain variant	NG_000006.1	33795
448	CD 6 GAC>GTC [Asp>Val]	Hb Ferndown	HBA1:c.20A>T \| HBA2:c.20A>T	α1 or α2	Causative	α-chain variant	NG_000006.1	33795, 37599
449	CD 6 GAC>GCC [Asp>Ala]	Hb Sawara	HBA1:c.20A>C \| HBA2:c.20A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33795, 37599
3762	CD 7 AAG>GAG [Lys>Glu]	Hb Kurosaki	NM_000517.6(HBA2):c.22A>G	α2	Causative	α-chain variant	NG_000006.1	33797
2383	CD 7 AAG>CAG [Lys>Gln]	Hb J-Brainerd	HBA2:c.22A>C	α2	Causative	α-chain variant	NG_000006.1	33797
2469	CD 7 AAG>TAG	N/A	HBA2:c.22A>T	α2	Causative	α-thalassaemia	NG_000006.1	33797
2384	CD 7 AAG>ACG [Lys>Thr]	Hb Nayarit	HBA2:c.23A>C	α2	Causative	α-chain variant	NG_000006.1	33798
451	CD 7 AAG>AGG [Lys>Arg]	Hb Guanajuato	HBA2:c.23A>G	α2	Causative	α-chain variant	NG_000006.1	33798
452	CD 7 AAG>AAC [Lys>Asn]	Hb Tatras	HBA1:c.24G>C \| HBA2:c.24G>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33799, 37603
2206	CD 8 (-C)	N/A	HBA2:c.27delC	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33802
4011	CD 9 AAC>TAC [Asn>Tyr]	N/A	HBA2:c.28A>T	α2	Causative	α-thalassaemia	NG_000006.1	33803
454	CD 9 AAC>AGC [Asn>Ser]	Hb Zurich-Hottingen	HBA2:c.29A>G	α2	Causative	α-chain variant	NG_000006.1	33804
455	CD 9 AAC>ACC [Asn>Thr]	Hb Broomfield	HBA1:c.29A>C \| HBA2:c.29A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33804, 37608
457	CD 9 AAC>AAG [Asn>Lys]	Hb Park Ridge	HBA2:c.30C>G	α2	Causative	α-chain variant	NG_000006.1	33805
3402	CD 9 AAC>AAA [Asn>Lys]	Hb Zhaoqing	HBA2:c.30C>A	α2	Causative	α-chain variant	NG_000006.1	33805
3991	CD 10 GTC>GAC [Val>Asp]	Hb Chumphae	HBA2:c.32T>A	α2	Causative	α-thalassaemia	NG_000006.1	33807
3791	CD 11 AAG>GAG [Lys>Glu]	Hb Arbresle	HBA2:c.34A>G	α2	Causative	α-chain variant	NG_000006.1	33809
458	CD 11 AAG>CAG [Lys>Gln]	Hb J-Wenchang-Wuming	HBA2:c.34A>C	α2	Causative	α-chain variant	NG_000006.1	33809
459	CD 11 AAG>CAG [Lys>Glu]	Hb Anantharaj	HBA2:p.Lys12Glu \| HBA1:p.Lys12Glu	α1 or α2	Causative	α-chain variant	NG_000006.1	33809, 37613
3713	CD 11 AAG>ACG [Lys>Thr]	N/A	HBA2:c.35A>C	α2	Causative	α-chain variant	NG_000006.1	33810
460	CD 11 AAG>AAC or AAT [Lys>Asn]	Hb Albany-Suma	HBA1:c.36G>C \| HBA1:c.36G>T \| HBA2:c.36G>C \| HBA2:c.36G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	33811, 37615
2499	CD 12 GCC>GAC [Ala>Asp] (Hb J-Aljezur)	Hb J-Paris-I	HBA1:c.38C>A	α1	Causative	α-chain variant	NG_000006.1	33813
2433	CD 13-14 -GCCTGG [-Ala-Trp]	Hb Souli	HBA2:c.40_45delGCCTGG	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33815
3599	CD 13 GCC>TCC [Ala>Ser]	Hb Binyang	HBA2:c.40G>T	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	33815
462	CD 13 GCC>CCC [Ala>Pro]	Hb Ravenscourt Park	HBA1:c.40G>C \| HBA2:c.40G>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33815, 37619
2977	CD 13 GCC>GAC [Ala>Asp]	Hb Little Waltham	HBA2:c.41C>A	α2	Causative	α-chain variant	NG_000006.1	33816
3984	CD 13 GCC>GTC [Ala>Val]	Hb Huidong	HBA2:c.41C>T	α2	Causative	α-chain variant	NG_000006.1	33816
3941	CD 14 TGG>TCG [Trp>Ser]	Hb Jax	HBA2:c.44G>C	α2	Causative	β-chain variant	NG_000006.1	33819
2348	CD 14 TGG>TTG [Trp>Leu]	N/A	HBA2:c.44G>T	α2	Causative	α-chain variant	NG_000006.1	33819
2518	CD 14 TGG>TGA	N/A	HBA2:c.45G>A	α2	Causative	α-thalassaemia	NG_000006.1	33820
464	CD 14 TGG>TGC [Trp>Cys]	Hb Bladensburg	HBA2:c.45G>C	α2	Causative	α-chain variant	NG_000006.1	33820
3761	CD 15 GGT>CGT [Gly>Arg]	Hb Ottawa	HBA2:c.46G>C	α2	Causative	α-chain variant	NG_000006.1	33821
3841	CD 15 GGT>AGT [Gly>Ser]	Hb Nanchang	HBA2:c.46G>A	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	33821
3916	CD 15 GGT>TGT [Gly>Cys]	Hb Orbassano	HBA2:c.46G>T	α2	Causative	α-chain variant	NG_000006.1	33821
4024	CD 15 (-GG, +C)	N/A	HBA2:c.46_47delinsC	α2	Causative	α-thalassaemia	NG_000006.1	33821
3487	CD 15 GGT>GTT [Gly>Val]	Hb Liaoning	HBA2:c.47G>T	α2	Causative	α-chain variant	NG_000006.1	33822
4063	CD 15 (-G, +CC)	N/A	HBA2:c.47delinsCC	α2	Causative	α-thalassaemia	NG_000006.1	33822
3714	CD 15/16 (+T)	N/A	HBA2:c.48_49insT	α2	Causative	α-thalassaemia	NG_000006.1	33823
3623	CD 16 AAG>CAG [Lys>Gln]	Hb Heilongjiang	HBA2:c.49A>C	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	33824
467	CD 16 AAG>GAG [Lys>Glu] (Hb I-Burlington, Hb I-Philadelphia, Hb I-Skamania, Hb I-Texas)	HbI	HBA2:c.49A>G	α2	Causative	α-chain variant	NG_000006.1	33824
469	CD 16 AAG>ACG [Lys>Thr]	Hb Boa Esperanca	HBA2:c.50A>C	α2	Causative	α-chain variant	NG_000006.1	33825
470	CD 16 AAG>AAT [Lys>Asn]	Hb Beijing	HBA2:c.51G>T	α2	Causative	α-chain variant	NG_000006.1	33826
3064	CD 17 GTC>TTC [Val>Phe]	Hb Dapu	HBA2:c.52G>T	α2	Causative	α-chain variant	NG_000006.1	33827
2978	CD 17 GTC>GAC [Val>Asp]	Hb Oxford	HBA2:c.53T>A	α2	Causative	α-chain variant	NG_000006.1	33828
3885	CD 17 (-C) (Hb Kunming)	N/A	HBA2:c.54delC	α2	Causative	α-thalassaemia	NG_000006.1	33829
3037	CD 18 GGC>CGC [Gly>Arg]	Hb Handsworth	HBA2:c.55G>C	α2	Causative	α-chain variant	NG_000006.1	33830
350	CD 18 GGC>G-C	N/A	HBA2:c.56delG	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33831
472	CD 18 GGC>GAC [Gly>Asp]	Hb Al-Ain Abu Dhabi	HBA1:c.56G>A \| HBA2:c.56G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	33831, 37635
473	CD 19 GCG>GAG [Ala>Glu]	Hb J-Tashikuergan	HBA2:c.59C>A	α2	Causative	α-chain variant	NG_000006.1	33834
474	CD 19 GCG>GAY [Ala>Asp]	Hb J-Kurosh	HBA2:c.59_60delinsAY^HBA1:c.59_60delinsAY	α1 or α2	Causative	α-chain variant	NG_000006.1	33834, 37638
3715	CD 19 GCG>GTG [Ala>Val]	N/A	HBA2:c.59C>T	α2	Causative	α-chain variant	NG_000006.1	33834
2465	CD 19 GCG>GC-	N/A	HBA2:c.60delG	α2	Causative	α-thalassaemia	NG_000006.1	33835
475	CD 20 CAC>TAC [His>Tyr]	Hb Necker Enfants-Malades	HBA1:c.61C>T \| HBA2:c.61C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	33836, 37640
476	CD 20 CAC>GAC [His>Asp]	Hb Nikaia	HBA2:c.61C>G	α2	Causative	α-chain variant	NG_000006.1	33836
478	CD 20 CAC>CGC [His>Arg]	Hb Hobart	HBA1:c.62A>G \| HBA2:c.62A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	33837, 37641
3989	CD 20 CAC>CTC [His>Leu]	Hb Hebei	HBA2: c.62A>T	α2	Causative	α-chain variant	NG_000006.1	33837
479	CD 20 CAC>CAA [His>Gln]	Hb Le Lamentin	HBA2:c.63C>A	α2	Causative	α-chain variant	NG_000006.1	33838
351	CD 21 GCT>TCT [Ala>Ser]	Hb Zoetermeer	HBA2:c.64G>T	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33839
481	CD 21 GCT>CCT [Ala>Pro]	Hb Fontainebleau	HBA2:c.64G>C	α2	Causative	α-chain variant	NG_000006.1	33839
2351	CD 21 GCT>GTT [Ala>Val]	Hb Venetia	HBA2:c.65C>T	α2	Causative	α-chain variant	NG_000006.1	33840
2207	CD 21/22 +T	N/A	HBA2:c.66dupT	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33841
483	CD 22 GGC>GAC [Gly>Asp]	Hb J-Medellin	HBA1:c.68G>A \| HBA2:c.68G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	33843, 37647
352	CD 22 GGC>GGT new donor consensus	N/A	HBA2:c.69C>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33844
353	CD 22 -C	N/A	HBA2:c.69delC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33844
2438	CD 22-26 (-9 bp)	Hb Zhanjiang	HBA2:c.69_77delCGAGTATGG	α2	Causative	α-chain variant	NG_000006.1	33844
3915	-α3.7;CD 23 GAG>AAG	Hb Chad	NG_000006.1:g.34247_38050del;33845G>A	α3.7 hybrid	Causative	α-thalassaemia, α-chain variant	NG_000006.1	33845
354	CD 23 GAG>TAG [Glu>STOP]	N/A	HBA2:c.70G>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33845
484	CD 23 GAG>CAG [Glu>Gln]	Hb Memphis	HBA2:c.70G>C	α2	Causative	α-chain variant	NG_000006.1	33845
485	CD 23 GAG>AAG [Glu>Lys] (Hb E-Keelung)	Hb Chad	HBA2:c.70G>A	α2	Causative	α-chain variant	NG_000006.1	33845
486	CD 23 GAG>GGG [Glu>Gly]	Hb Reims	HBA1:c.71A>G \| HBA2:c.71A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	33846, 37650
487	CD 23 GAG>GTG [Glu>Val]	Hb G-Audhali	HBA1:c.71A>T \| HBA2:c.71A>T	α1 or α2	Causative	α-chain variant	NG_000006.1	33846, 37650
2368	CD 23 GAG>GCG [Glu>Ala]	Hb Dayton	HBA2:c.71A>C	α2	Causative	α-chain variant	NG_000006.1	33846
488	CD 23 GAG>GAT [Glu>Asp]	Hb Lisbon	HBA1:c.72G>T \| HBA2:c.72G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	33847, 37651
489	CD 24 TAT>CAT [Tyr>His]	Hb Luxembourg	HBA1:c.73T>C \| HBA2:c.73T>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33848, 37652
490	CD 24 TAT>GAT [Tyr>Asp]	Hb Creve Coeur	HBA2:c.73T>G	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	33848
2208	CD 24 TAT>TAG	N/A	HBA2:c.75T>G	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33850
2488	CD 24 TAT>TAA	N/A	HBA2:c.75T>A	α2	Causative	α-thalassaemia	NG_000006.1	33850
3985	CD 25 GGT>AGT [Gly>Ser]	Hb Jinwan	HBA2:c.76G>A	α2	Causative	α-chain variant	NG_000006.1	33851
2538	CD 25 GGT>GAT [Gly>Asp]	Hb Cibeles	HBA2:c.77G>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33852
355	CD 26 GCG>ACG [Ala>Thr]	Hb Caserta	HBA2:c.79G>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33854
3657	CD 26 GCG>ACG [Ala>Thr];CD 130 GCT>CCT [Ala>Pro]	Hb Southern Italy	HBA2:c.[79G>A;391G>C]	α2	Causative	α-thalassaemia	NG_000006.1	33854, 34425
493	CD 26 GCG>GTG [Ala>Val]	Hb Campinas	HBA2:c.80C>T	α2	Causative	α-chain variant	NG_000006.1	33855
494	CD GCG>GAG [Ala>Glu]	Hb Shenyang	HBA2:c.80C>A	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	33855
495	CD 27 GAG>AAG [Glu>Lys]	Hb Shuangfeng	HBA2:c.82G>A	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	33857
496	CD 27 GAG>GGG [Glu>Gly]	Hb Fort Worth	HBA2:c.83A>G	α2	Causative	α-chain variant	NG_000006.1	33858
497	CD 27 GAG>GTG [Glu>Val]	Hb Spanish Town	HBA2:c.83A>T	α2	Causative	α-chain variant	NG_000006.1	33858
498	CD 27 GAG>GCG [Glu>Ala]	Hb Hackney	HBA1:c.83A>C \| HBA2:c.83A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33858, 37662
499	CD 27 GAG>GAC [Glu>Asp]	Hb Hekinan	HBA2:c.84G>C	α2	Causative	α-chain variant	NG_000006.1	33859
3568	CD 28 GCC>-CC	N/A	HBA2:c.85delG	α2	Causative	α-thalassaemia	NG_000006.1	33860
356	CD 29 CTG>CCG [Leu>Pro]	Hb Agrinio	HBA2:c.89T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33864
357	CD 30 -GAG [-Glu]	N/A	HBA2:c.91_93delGAG	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33866
503	CD 30 GAG>AAG [Glu>Lys]	Hb O-Padova	HBA2:c.91G>A	α2	Causative	α-chain variant	NG_000006.1	33866
3766	CD 30 GAG>CAG [Glu>Gln]	Hb G-Honolulu	HBA2:c.91G>C	α2	Causative	α-chain variant	NG_000006.1	33866
2210	CD 31 AGG>CGG [Arg>Arg]	N/A	HBA2:c.94A>C	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33869
2487	CD 31 AGG>GGG [Arg>Gly]	Hb Maranon	HBA2:c.94A>G	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	33869
3217	CD 31 AGG>TGG [Arg>Trp]	Hb Debao	HBA2:c.94A>T	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	33869
365	-α3.7;CD 31 AGG>--G	N/A	NG_000006.1:g.[33869_33870del;34247_38050del]	α2, α3.7 hybrid	Causative	α-thalassaemia	NG_000006.1	33869, 34247
366	CD 31 AGG>AAG [Arg>Lys]	N/A	HBA2:c.95G>A	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33870
3745	IVS I-1 G>A	N/A	HBA2:c.95+1G>A	α2	Causative	α-thalassaemia	NG_000006.1	33871
2483	IVS I-1 G>T	N/A	HBA2:c.95+1G>T	α2	Causative	α-thalassaemia	NG_000006.1	33871
359	IVS I-1 (-5 bp) GAGGTGAGG>GAGG----- donor (α-5nt)	N/A	HBA2:c.95+2_95+6delTGAGG	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33872
360	IVS I-5 G>A	N/A	HBA2:c.95+5 G>A	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33875
4043	IVS I-57 C>T	N/A	HBA2:c.95+7C>T	α2	Causative	α-thalassaemia	NG_000006.1	33877
3729	IVS I-11 (-24bp) (Hb Qujing)	N/A	HBA2:c.95+11_95+34del	α2	Causative	α-thalassaemia	NG_000006.1	33881
362	IVS I-55 G>A	N/A	HBA2:c.95+55 G>A	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33925
3976	IVS I-68 G>A	N/A	HBA2:c.96-50G>A	α2	Causative	α-thalassaemia	NG_000006.1	33938
3730	IVS I-73 G>A	N/A	HBA2:c.96-45G>A	α2	Causative	α-thalassaemia	NG_000006.1	33943
3877	IVS I-114 G>T	N/A	HBA2:c.96-4G>T	α2	Causative	α-thalassaemia	NG_000006.1	33984
363	IVS I-116 GCAGGA>GCGGGA acceptor	N/A	HBA2:c.96-2A>G	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33986
2957	IVS I-117 G>A	N/A	HBA2:c.96-1G>A	α2	Causative	α-thalassaemia	NG_000006.1	33987
506	CD 31 AGG>AGC [Arg>Ser]	Hb Prato	HBA2:c.96G>C	α2	Causative	α-chain variant	NG_000006.1	33988
2209	CD 32 ATG>AGG [Met>Arg] (Hb Gran Vía)	Hb Rotterdam	HBA2:c.98T>G	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33990
367	CD 32 G>A	Hb Amsterdam	HBA2:c.99G>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33991
3363	CD 33 TTC>CTC [Phe>Leu]	Hb Worthing	HBA2:c.100T>C	α2	Causative	α-chain variant	NG_000006.1	33992
368	CD 33 T>C	Hb Chartres	HBA2:c.101T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33993
3362	CD 34 CTG>CCG [Leu>Pro]	Hb Bass Hill	HBA2:c.104T>C	α2	Causative	α-chain variant	NG_000006.1	33996
369	CD 35 TCC>CCC [Ser>Pro]	Hb Evora	HBA2:c.106T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33998
511	CD 35 TCC>TAC [Ser>Tyr]	Hb Shinagawa	HBA2:c.107C>A	α2	Causative	α-chain variant	NG_000006.1	33999
2999	CD 35 TCC>TTC [Ser>Phe]	Hb Colorado	HBA2:c.107C>T	α2	Causative	α-chain variant	NG_000006.1	33999
512	CD 36 TTC>CTC [Phe>Leu]	Hb Geisinger	HBA2:c.109T>C	α2	Causative	α-chain variant	NG_000006.1	34001
2373	CD 37 CCC>TCC [Pro>Ser]	Hb Boskoop	HBA2:c.112C>T	α2	Causative	α-chain variant	NG_000006.1	34004
514	CD 37 CCC>CTC [Pro>Leu]	Hb Manawatu	HBA2:c.113C>T	α2	Causative	α-chain variant	NG_000006.1	34005
515	CD 37 CCC>CGC [Pro>Arg]	Hb Boumerdes	HBA2:c.113C>G	α2	Causative	α-chain variant	NG_000006.1	34005
516	CD 37 +GAA [+Glu]	Hb Catonsville	HBA1:c.114_115insGAA \| HBA2:c.114_115insGAA	α1 or α2	Causative	α-chain variant	NG_000006.1	34006, 37810
2211	CD 37 CCC>CC-	N/A	HBA2:c.114delC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34006
2319	CD 38 ACC>GCC [Thr>Ala]	Hb Beaconsfield	HBA1:c.115A>G \| HBA2:c.115A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34007, 37811
3488	CD 38 ACC>AAC [Thr>Asn]	Hb Pescara	HBA2:c.116C>A	α2	Causative	α-chain variant	NG_000006.1	34008
3765	CD 39 (-ACC) [-Thr]	Hb Taybe	HBA2:c.118_120del	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34010
372	CD 39-41 (-9 bp, + 8 bp)	N/A	NG_000006.1:g.34010_34018delinsTACTTCCC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34010
519	CD 40 AAG>GAG [Lys>Glu]	Hb Kariya	HBA1:c.121A>G \| HBA2:c.121A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34013, 37817
520	CD 40 AAG>CAG [Lys>Gln]	Hb Linwood	HBA2:c.121A>C	α2	Causative	α-chain variant	NG_000006.1	34013
521	CD 40 AAG>ATG [Lys>Met]	Hb Kanagawa	HBA2:c.122A>T	α2	Causative	α-chain variant	NG_000006.1	34014
524	CD 40 AAG>AAC [Lys>Asn]	Hb Villiers le Bel	HBA2:c.123G>C	α2	Causative	α-chain variant	NG_000006.1	34015
2493	CD 40 AAG>AA-	N/A	HBA2:c.123delG	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34015
525	CD 41 ACC>TCC or AGC [Thr>Ser]	Hb Miyano	HBA1:c.124A>T \| HBA1:c.125C>G \| HBA2:c.124A>T \| HBA2:c.125C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34016, 37820
3986	CD 41 ACC>AAC [Thr>Asn]	Hb Zhuhai	HBA2:c.125C>A	α2	Causative	α-chain variant	NG_000006.1	34017
3489	CD 42 TAC>GAC [Tyr>Asp]	Hb Huaxi	HBA2:c.127T>G	α2	Causative	α-chain variant	NG_000006.1	34019
373	CD 42 TAC>CAC [Tyr>His]	Hb Barika	HBA2:c.127T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34019
3801	CD 42 TAC>TGC [Tyr>Cys]	Hb Hauteluce	HBA2:c.128A>G	α2	Causative	α-chain variant	NG_000006.1	34020
527	CD 43 TTC>GTC [Phe>Val]	Hb Torino	HBA1:c.130T>G \| HBA2:c.130T>G	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34022, 37826
528	CD 43 TTC>ATC [Phe>Ile]	Hb Sens	HBA2:c.130T>A	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34022
2214	CD 43 TTC>T-C	N/A	HBA2:c.131delT	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34023
2215	CD 43/44 -C	N/A	HBA2:c.132delC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34024
529	CD 43 TTC>TTG [Phe>Leu]	Hb Hirosaki	HBA2:c.132C>G	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34024
3382	CD 44 CCG>TCG [Pro>Ser]	Hb Xuchang	HBA2:c.133C>T	α2	Causative	α-chain variant	NG_000006.1	34025
3763	CD 44 CCG>GCG [Pro>Ala]	Hb Milne	HBA2:c.133C>G	α2	Causative	α-chain variant	NG_000006.1	34025
532	CD 44 CCG>CGG [Pro>Arg]	Hb Kawachi	HBA1:c.134C>G \| HBA2:c.134C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34026, 37830
533	CD 44 CCG>CTG [Pro>Leu]	Hb Milledgeville	HBA2:c.134C>T	α2	Causative	α-chain variant	NG_000006.1	34026
534	CD 45 CAC>TAC [His>Tyr]	Hb Matsudo	HBA1:c.136C>T \| HBA2:c.136C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34028, 37832
535	CD 45 CAC>GAC [His>Asp]	Hb Poitiers	HBA1:c.136C>G \| HBA2:c.136C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34028, 37832
537	CD 45 CAC>CCC [His>Pro]	Hb Oita	HBA2:c.137A>C	α2	Causative	α-chain variant	NG_000006.1	34029
538	CD 45 CAC>CAG [His>Gln]	Hb Bari	HBA2:c.138C>G	α2	Causative	α-chain variant	NG_000006.1	34030
2541	CD 45 CAC>CAG [His>Gln]; CD 57 GGC>CGC [Gly>Arg]	Hb Blythe Boulevard	HBA2:c.[138C>G;172G>C]	α2	Causative	α-chain variant	NG_000006.1	34030, 34064
2953	CD 46 TTC>ATC [Phe>Ile]	Hb Brigante	HBA2:c.139T>A	α2	Causative	α-chain variant	NG_000006.1	34031
539	CD 46 TTC>TTG or TTA or CTC [Phe>Leu]	Hb Rockaway	HBA1:c.139T>C \| HBA1:c.141C>A \| HBA1:c.141C>G \| HBA2:c.139T>C \| HBA2:c.141C>A \| HBA2:c.141C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34031, 37835
540	CD 46 TTC>GTC [Phe>Val]	Hb Hillingdon	HBA1:c.139T>G \| HBA2:c.139T>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34031, 37835
2376	CD 46 TTC>TCC [Phe>Ser]	Hb Lake Tapawingo	HBA2:c.140T>C	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34032
3405	CD 47-53 (-20bp): (-GACCTGAGCCACGGCTCTGC)	N/A	HBA2:c.142_161del	α2	Causative	α-thalassaemia	NG_000006.1	34034
4107	CD 47 GAC>AAC [Asp>Asn]	Hb Arya	HBA2:c.142G>A	α2	Causative	α-chain variant	NG_000006.1	34034
541	CD 47 GAC>CAC [Asp>His] (Hb L-Ferrara, Hb Michigan-I, Hb Michigan-II, Hb Sealy, Hb Sinai)	Hb Hasharon	HBA2:c.142G>C	α2	Causative	α-chain variant	NG_000006.1	34034
543	CD 47 GAC>TAC [Asp>Tyr]	Hb Kurdistan	HBA2:c.142G>T	α2	Causative	α-chain variant	NG_000006.1	34034
544	CD 47 GAC>GGC [Asp>Gly] (Hb Kokura , Hb L-Gaslini , Hb Mugino , Hb Tagawa-II , Hb Umi , Hb Yukuhashi-II)	Hb Beilinson	HBA1:c.143A>G \| HBA2:c.143A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34035, 37839
545	CD 47 GAC>GCC [Asp>Ala]	Hb Cordele	HBA1:c.143A>C \| HBA2:c.143A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34035, 37839
2216	CD 47 -A	N/A	HBA2:c.143delA	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34035
3053	CD 47/48 (-4bp): (-ACCT)	N/A	HBA2:c.143_146delACCT	α2	Causative	α-thalassaemia	NG_000006.1	34035
2535	CD 48-54 -18 bp	Hb Fenton	HBA2:c.146_163delTGAGCCACGGCTCTGCCC	α2	Causative	α-chain variant	NG_000006.1	34038
546	CD 48 CTG>CGG [Leu>Arg]	Hb Montgomery	HBA2:c.146T>G	α2	Causative	α-chain variant	NG_000006.1	34038
3694	CD 48 CTG>CAG [Leu>Gln]	Hb Ijselland	HBA2:c.146T>A	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34038
2955	CD 49-57 (-24bp): (-GCCACGGCTCTGCCCAGGTTAAGG)	Hb Goya	HBA2:c.149_172del	α2	Causative	α-chain variant	NG_000006.1	34041
374	CD 49 -GC	N/A	HBA2:c.149_150delGC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34041
548	CD 49 AGC>AGA or AGG [Ser>Arg]	Hb Savaria	HBA2:c.150C>A \|HBA2:c.150C>G	α2	Causative	α-chain variant	NG_000006.1	34042
549	CD 50 CAC>GAC [His>Asp]	Hb J-Sardegna	HBA2:c.151C>G	α2	Causative	α-chain variant	NG_000006.1	34043
2314	CD 50 CAC>TAC [His>Tyr]	Hb South Yorkshire	HBA1:c.151C>T \| HBA2:c.151C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34043, 37847
3923	CD 50 CAC>CCC [His>Pro]	Hb Porter Brook	HBA2:c.152A>C	α2	Causative	α-chain variant	NG_000006.1	34044
551	CD 50 CAC>CGC [His>Arg]	Hb Aichi	HBA1:c.152A>G \| HBA2:c.152A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34044, 37848
552	CD 50 CAC>CAG [His>Gln]	Hb Frankfurt	HBA2:c.153C>G	α2	Causative	α-chain variant	NG_000006.1	34045
2511	-α3.7;CD 50 CAC>CAG [His>Gln] (-α3.7kb Frankfurt)	Hb Frankfurt	NG_000006.1:g.34247_38050del;34045C>G	α3.7 hybrid	Causative	α-chain variant	NG_000006.1	34045
2458	CD 51 GGC>AGC [Gly>Ser]	Hb Riccarton II	HBA2:c.154G>A	α2	Causative	α-chain variant	NG_000006.1	34046
554	CD 51 GGC>CGC [Gly>Arg]	Hb Russ	HBA2:c.154G>C	α2	Causative	α-chain variant	NG_000006.1	34046
3397	CD 51 GGC>TGC [Gly>Cys]	Hb Hunan	HBA2:c.154G>T	α2	Causative	α-chain variant	NG_000006.1	34046
555	CD 51 GGC>GAC [Gly>Asp]	Hb J-Abidjan	HBA1:c.155G>A \| HBA2:c.155G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34047, 37851
2217	CD 51/52 +G	N/A	HBA2:c.156_157insG	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34048
2423	CD 52 TCT>GCT [Ser>Ala]	Hb Cheshire	HBA1:c.157T>G \| HBA2:c.157T>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34049, 37853
3039	CD 52-59 (-24bp): (-TCTGCCCAGGTTAAGGGCCACGGC)	Hb J-Biskra	HBA2: c.157_180del	α2	Causative	α-chain variant	NG_000006.1	34049
557	CD 52 TCT>TTT [Ser>Phe]	Hb Essex	HBA2:c.158C>T	α2	Causative	α-chain variant	NG_000006.1	34050
558	CD 53 GCC>GAC [Ala>Asp]	Hb J-Rovigo	HBA2:c.161C>A	α2	Causative	α-chain variant	NG_000006.1	34053
376	CD 54 (CAG>TAG)	N/A	HBA2:c.163C>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34055
3693	CD 54 CAG>-AG	N/A	HBA2:c.163delC	α2	Causative	α-thalassaemia	NG_000006.1	34055
2472	CD 54 CAG>CCG [Gln>Pro]	Hb Dhaka	HBA1:c.164A>C \| HBA2:c.164A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34056, 37860
2397	CD 54 CAG>CAC or CAT [Gln>His]	Hb Princes Risborough	HBA1:p.[Gln55His] \| HBA2:p.[Gln55His]	α1 or α2	Causative	α-chain variant	NG_000006.1	34057, 37861
563	CD 55 GTT>GCT [Val>Ala]	Hb Gerland	HBA2:c.167T>C	α2	Causative	α-chain variant	NG_000006.1	34059
3079	CD 55 +T	N/A	HBA2:c.168dup	α2	Causative	α-thalassaemia	NG_000006.1	34060
3054	CD 56 AAG>--G	N/A	HBA2:c.169_170delAA	α2	Causative	α-thalassaemia	NG_000006.1	34061
564	CD 56 AAG>GAG [Lys>Glu]	Hb Shaare Zedek	HBA2:c.169A>G	α2	Causative	α-chain variant	NG_000006.1	34061
565	CD 56 AAG>AGG [Lys>Arg]	Hb Port Huron	HBA1:c.170A>G \| HBA2:c.170A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34062, 37866
569	CD 57 GGC>GAC [Gly>Asp] (Hb Kagoshima, Hb Nishik-I, Hb Nishik-II, Hb Nishik-III)	Hb J-Norfolk	HBA2:c.173G>A	α2	Causative	α-chain variant	NG_000006.1	34065
570	CD 58 CAC>TAC [His>Tyr] (Hb M-Gothenburg, Hb M-Kiskunhalas, Hb M-Norin, Hb M-Osaka)	Hb M-Boston	HBA2:c.175C>T	α2	Causative	α-chain variant	NG_000006.1	34067
4072	CD 58 CAC>AAC [His>Asn]	Hb DG-Nancheng	HBA2:c.175C>A	α2	Causative	α-chain variant	NG_000006.1	34067
571	CD 58 CAC>CAA [His>Gln]	Hb Boghé	HBA2:c.177C>A	α2	Causative	α-chain variant	NG_000006.1	34069
2474	CD 58 CAC>CAG [His>Gln]	Hb Flurlingen	HBA2:c.177C>G	α2	Causative	α-chain variant	NG_000006.1	34069
2409	CD 59 GGC>AGC [Gly>Ser]	Hb Parma	HBA2:c.178G>A	α2	Causative	α-chain variant	NG_000006.1	34070
379	CD 59 GGC>CGC [Gly>Arg]	Hb Zurich-Albisrieden	HBA2:c.178G>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34070
377	CD 59 GGC>GAC [Gly>Asp]	Hb Adana	HBA2:c.179G>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34071
575	CD 59 GGC>GTC [Gly>Val]	Hb Tottori	HBA1:c.179G>T \| HBA2:c.179G>T	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34071, 37875
577	CD 60 AAG>GAG [Lys>Glu]	Hb Dagestan	HBA2:c.181A>G	α2	Causative	α-chain variant	NG_000006.1	34073
3987	CD 60 AAG>AGG [Lys>Arg]	Hb Liuzhou-Liyong	HBA2:c.182A>G	α2	Causative	α-chain variant	NG_000006.1	34074
580	CD 61 AAG>GAG [Lys>Glu]	Hb Miyagi	HBA1:c.184A>G \| HBA2:c.184A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34076, 37880
3286	CD 61 AAG>TAG [Lys>STOP]	N/A	HBA2:c.184A>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34076
581	CD 61 AAG>ACG [Lys>Thr]	Hb J-Anatolia	HBA2:c.185A>C	α2	Causative	α-chain variant	NG_000006.1	34077
583	CD 62 GTG>ATG [Val>Met]	Hb Evans	HBA2:c.187G>A	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34079
384	CD 66 CTG>CCG [Leu>Pro]	Hb Dartmouth	HBA2:c.190T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34082
2218	CD 63-76 (-42 bp)	N/A	HBA2:c.190_231del	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34082
2362	CD 63 GCC>GTC [Ala>Val] (Hb Aberystwyth)	Hb Nakhon Ratchsima	HBA2:c.191C>T	α2	Causative	α-chain variant	NG_000006.1	34083
586	CD 64 GAC>TAC [Asp>Tyr]	Hb Persepolis	HBA1:c.193G>T \| HBA2:c.193G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34085, 37889
588	CD 64 GAC>AAC [Asp>Asn] (Hb Aida)	Hb G-Waimanalo	HBA2:c.193G>A	α2	Causative	α-chain variant	NG_000006.1	34085
589	CD 64 GAC>GGC [Asp>Gly]	Hb Guangzhou-Hangzhou	HBA1:c.194A>G \| HBA2:c.194A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34086, 37890
590	CD 65 GCG>ACG [Ala>Thr]	Hb Part-Dieu	HBA2:c.196G>A	α2	Causative	α-chain variant	NG_000006.1	34088
591	CD 65 GCG>GTG [Ala>Val]	Hb Bois Guillaume	HBA1:c.197C>T \| HBA2:c.197C>T	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34089, 37893
3381	CD 67 ACC>ATC [Thr>Ile]	Hb Sichuan	HBA2:c.203C>T	α2	Causative	α-chain variant	NG_000006.1	34095
593	CD 68 AAC>GAC [Asn>Asp]	Hb Ube-2	HBA2:c.205A>G	α2	Causative	α-chain variant	NG_000006.1	34097
595	CD 68 AAC>CAC [Asn>His]	Hb St. Truiden	HBA2:c.205A>C	α2	Causative	α-chain variant	NG_000006.1	34097
2318	CD 68 AAC>TAC [Asn>Tyr]	Hb Chelmsford	HBA1:c.205A>T \| HBA2:c.205A>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34097, 37901
2576	CD 68 AAC>A-C	N/A	HBA2:c.206delA	α2	Causative	α-thalassaemia	NG_000006.1	34098
3973	-α3.7;CD 68 AAC>AAR (-α3.7-Hb G-Philadelphia)	Hb G-Philadelphia	NG_000006.1:g.[34099C>R;34247_38050del]	α2, α3.7 hybrid	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34099, 34247
4070	CD 68 (-C)	N/A	HBA2:c.207del	α2	Causative	α-thalassaemia	NG_000006.1	34099
596	CD 68 AAC>AAA [Asn>Lys] (Hb D-Baltimore, Hb D-St. Louis, Hb D-Washington, Hb G-Azakouli, Hb G-Bristol, Hb G-Knoxville, Hb Stanleyville-I)	Hb G-Philadelphia	HBA2:c.207C>A	α2	Causative	α-chain variant	NG_000006.1	34099
598	CD 69 GCC>ACC [Ala>Thr]	Hb Decines-Charpieu	HBA2:c.208G>A	α2	Causative	α-chain variant	NG_000006.1	34100
2335	CD 70 GTG>GGG [Val>Gly]	Hb Edinburgh	HBA2:c.212T>G	α2	Causative	α-chain variant	NG_000006.1	34104
2312	CD 71 GCG>ACG [Ala>Thr]	Hb Hatfield	HBA1:c.214G>A \| HBA2:c.214G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34106, 37910
600	CD 71 GCG>GAG [Ala>Glu]	Hb J-Habana	HBA1:c.215C>A \| HBA2:c.215C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34107, 37911
602	CD 72 CAC>GAC [His>Asp]	Hb Norton	HBA2:c.217C>G	α2	Causative	α-chain variant	NG_000006.1	34109
603	CD 72 CAC>TAC [His>Tyr] (Hb Tanashi)	Hb Fuchu-I	HBA1:c.217C>T \| HBA2:c.217C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34109, 37913
3705	CD 72 (+C)	N/A	HBA2:c.217dup	α2	Causative	α-thalassaemia	NG_000006.1	34109
604	CD 72 CAC>CGC [His>Arg]	Hb Daneshgah-Tehran	HBA2:c.218A>G	α2	Causative	α-chain variant	NG_000006.1	34110
605	CD 72 CAC>CAA [His>Gln]	Hb Gouda	HBA2:c.219C>A	α2	Causative	α-chain variant	NG_000006.1	34111
3055	CD 73/74 (-4bp): (-GTGG)	N/A	HBA2:c.220_223delGTGG	α2	Causative	α-thalassaemia	NG_000006.1	34112
2979	CD 74 GAC>TAC [ Asp>Tyr]	Hb Uttoxeter	HBA2:c.223G>T	α2	Causative	α-chain variant	NG_000006.1	34115
606	CD 74 GAC>AAC [Asp>Asn]	Hb G-Pest	HBA2:c.223G>A	α2	Causative	α-chain variant	NG_000006.1	34115
610	CD 74 GAC>GCC [Asp>Ala]	Hb Lille	HBA1:c.224A>C \| HBA2:c.224A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34116, 37920
3749	CD 74 GAC>GGC [Asp>Gly] (Hb Chapel Hill)	Hb Liangqing	HBA2:c224A>G	α2	Causative	α-chain variant	NG_000006.1	34116
611	CD 75 (-GAC)	Hb Watts	HBA2:c.226_228del	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34118
612	CD 75 GAC>AAC [Asp>Asn]	Hb Matsue-Oki	HBA2:c.226G>A	α2	Causative	α-chain variant	NG_000006.1	34118
613	CD 75 GAC>CAC [Asp>His]	Hb Q-Iran	HBA2:c.226G>C	α2	Causative	α-chain variant	NG_000006.1	34118
614	CD 75 GAC>TAC [Asp>Tyr]	Hb Winnipeg	HBA2:c.226G>T	α2	Causative	α-chain variant	NG_000006.1	34118
615	CD 75 GAC>GTC [Asp>Val]	Hb Al-Hammadi Riyadh	HBA2:c.227A>T	α2	Causative	α-chain variant	NG_000006.1	34119
616	CD 75 GAC>GGC [Asp>Gly]	Hb Mizushi	HBA2:c.227A>G	α2	Causative	α-chain variant	NG_000006.1	34119
617	CD 76 ATG>AGG [Met>Arg]	Hb Walpole	HBA1:c.230T>G \| HBA2:c.230T>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34122, 37926
618	CD 76 ATG>ACG [Met>Thr]	Hb Aztec	HBA2:c.230T>C	α2	Causative	α-chain variant	NG_000006.1	34122
619	CD 76 ATG>AAG [Met>Lys]	Hb Noko	HBA1:c.230T>A \| HBA2:c.230T>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34122, 37926
620	CD 76 ATG>ATA [Met>Ile]	Hb Hellux	HBA2:c.231G>A	α2	Causative	α-chain variant	NG_000006.1	34123
3632	CD 76/77 (+T)	N/A	HBB:c.231_232insT	α2	Causative	α-thalassaemia	NG_000006.1	34123
2486	CD 77 CCC>TCC [Pro>Ser]	Hb Nile	HBA2:c.232C>T	α2	Causative	α-chain variant	NG_000006.1	34124
621	CD 77 CCC>CAC [Pro>His]	Hb Toulon	HBA2:c.233C>A	α2	Causative	α-chain variant	NG_000006.1	34125
622	CD 77 CCC>CTC [Pro>Leu]	Hb Asklipios	HBA2:c.233C>T	α2	Causative	α-chain variant	NG_000006.1	34125
623	CD 77 CCC>CGC [Pro>Arg]	Hb GuiZhou	HBA1:c.233C>G \| HBA2:c.233C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34125, 37929
624	CD 78 AAC>GAC [Asn>Asp]	Hb J-Singa	HBA1:c.235A>G \| HBA2:c.235A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34127, 37931
626	CD 78 AAC>AAG or AAA [Asn>Lys]	Hb Stanleyville-II	HBA2:c.[237C>A ;237C>G]	α2	Causative	α-chain variant	NG_000006.1	34129
627	CD 79 GCG>ACG [Ala>Thr]	Hb Mantes-La-Jolie	HBA1:c.238G>A \| HBA2:c.238G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34130, 37934
628	CD 79 GCG>GGG [Ala>Gly]	Hb J-Singapore	HBA2:c.239C>G	α2	Causative	α-chain variant	NG_000006.1	34131
629	CD 80 CTG>GTG [Leu>Val]	Hb Conakry	HBA2:c.241C>G	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34133
630	CD 80 CTG>CGG [Leu>Arg]	Hb Ann Arbor	HBA2:c.242T>G	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34134
3800	CD 80 CTG>CCG [Leu>Pro]	Hb Robbinsdale	HBA2:c.242T>C	α2	Causative	α-chain variant	NG_000006.1	34134
631	CD 81 TCC>CCC [Ser>Pro]	Hb Passy	HBA2:c.244T>C	α2	Causative	α-chain variant	NG_000006.1	34136
3884	CD 81 TCC>TTC [Ser>Phe]	Hb Zhaotong	HBA2:c.245C>T	α2	Causative	α-chain variant	NG_000006.1	34137
2980	CD 81 TCC>TAC [Ser>Tyr]	Hb Wolverhampton	HBA2:c.245C>A	α2	Causative	α-chain variant	NG_000006.1	34137
634	CD 82 GCC>GAC [Ala>Asp]	Hb Garden State	HBA1:c.248C>A \| HBA2:c.248C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34140, 37944
3974	CD 82-83 (-CCTG)	N/A	HBA2:c.249_252del	α2	Causative	α-thalassaemia	NG_000006.1	34141
635	CD 83 CTG>CCG [Leu>Pro]	Hb Les Andelys	HBA2:c.251T>C	α2	Causative	α-chain variant	NG_000006.1	34143
636	CD 84 AGC>GGC [Ser>Gly]	Hb Wembley	HBA1:c.253A>G \| HBA2:c.253A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34145, 37949
638	CD 84 AGC>AAC [Ser>Asn]	Hb Meulan	HBA2:c.254G>A	α2	Causative	α-chain variant	NG_000006.1	34146
2970	CD 84 AGC>ACC [Ser>Thr]	Hb Oelsnitz	HBA2:c.254G>C	α2	Causative	α-chain variant	NG_000006.1	34146
2446	CD 85 GAC>CAC [Asp>His]	Hb Canuts II	HBA2:c.256G>C	α2	Causative	α-chain variant	NG_000006.1	34148
640	CD 85 GAC>TAC [Asp>Tyr]	Hb Atago	HBA1:c.256G>T \| HBA2:c.256G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34148, 37952
3952	CD 85 GAC>AAC [Asp>Asn]	Hb G-Norfolk	HBA2:c.256G>A	α2	Causative	α-chain variant	NG_000006.1	34148
2355	CD 85 GAC>GGC [Asp>Gly]	Hb Benton	HBA2:c.257A>G	α2	Causative	α-chain variant	NG_000006.1	34149
642	CD 85 GAC>GTC [Asp>Val]	Hb Inkster	HBA2:c.257A>T	α2	Causative	α-chain variant	NG_000006.1	34149
2398	CD 85 GAC>GAA or GAG [Asp>Glu]	Hb Aylesbury	HBA1:c.258C>A \| HBA1:c.258C>G \| HBA2:c.258C>A \| HBA2:c.258C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34150, 37954
2372	CD 86 CTG>GTG [Leu>Val]	Hb Ridgewood	HBA2:c.259C>G	α2	Causative	α-chain variant	NG_000006.1	34151
643	CD 86 CTG>CGG [Leu>Arg]	Hb Moabit	HBA1:c.260T>G \| HBA2:c.260T>G	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34152, 37956
644	CD 87 +9 bp [+Ser-Asp-Leu]	Hb Neuilly-sur-Marne	HBA1:c.253_261dup \| HBA2:c.253_261dup	α1 or α2	Causative	α-chain variant	NG_000006.1	34154, 37949
645	CD 87 CAC>TAC [His>Tyr] (Hb M-Kankakee, Hb M-Oldenburg, Hb M-Sendai)	Hb M-Iwate	HBA2:c.262C>T	α2	Causative	α-chain variant	NG_000006.1	34154
646	CD 87 CAC>AAC [His>Asn]	Hb Auckland	HBA1:c.262C>A \| HBA2:c.262C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34154, 37958
648	CD 87 CAC>CGC [His>Arg]	Hb Iwata	HBA1:c.263A>G \| HBA2:c.263A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34155, 37959
2308	CD 87 CAC>CAG [His>Gln]	Hb Lansing	HBA2:c.264C>G	α2	Causative	α-chain variant	NG_000006.1	34156
2549	CD 87 CAC>CAA [His>Glu]	Hb Lansing (A)	HBA2:c.264C>A	α2	Causative	α-chain variant	NG_000006.1	34156
2367	CD 88 GCG>ACG [Ala>Thr]	Hb Voorhees	HBA2:c.265G>A	α2	Causative	α-chain variant	NG_000006.1	34157
650	CD 88 GCG>TCG [Ala>Ser]	Hb Loire	HBA1:c.265G>T \| HBA2:c.265G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34157, 37961
651	CD 88 GCG>GAG [Ala>Glu]	Hb Wroclaw	HBA1:c.266C>A \| HBA2:c.266C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34158, 37962
652	CD 88 GCG>GTG [Ala>Val]	Hb Columbia Missouri	HBA1:c.266C>T \| HBA2:c.266C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34158, 37962
653	CD 88 GCG>GGG [Ala>Gly]	Hb Valparaiso	HBA1:c.266C>G \| HBA2:c.266C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34158, 37962
654	CD 89 CAC>TAC [His>Tyr]	Hb Villeurbanne	HBA2:c.268C>T	α2	Causative	α-chain variant	NG_000006.1	34160
3569	CD 89-93 (-13bp): (-CACAAGCTTCGGG)	N/A	HBA2:c.268_280delCACAAGCTTCGGG	α2	Causative	α-thalassaemia	NG_000006.1	34160
655	CD 89 CAC>CCC [His>Pro]	Hb Tokyo	HBA1:c.269A>C \| HBA2:c.269A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34161, 37965
656	CD 89 CAC>CGC [His>Arg]	Hb Tamano	HBA1:c.269A>G \| HBA2:c.269A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34161, 37965
657	CD 89 CAC>CTC [His>Leu]	Hb Luton	HBA2:c.269A>T	α2	Causative	α-chain variant	NG_000006.1	34161
2390	CD 89 CAC>CAG [His>Gln]	Hb Enfield	HBA2:c.270C>G	α2	Causative	α-chain variant	NG_000006.1	34162
2388	CD 90 AAG>CAG [Lys>Gln]	Hb Bergerac	HBA2:c.271A>C	α2	Causative	α-chain variant	NG_000006.1	34163
388	CD 90 AAG>TAG	N/A	HBA2:c.271A>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34163
659	CD 90 AAG>GAG [Lys>Glu]	Hb Sudbury	HBA1:c.271A>G \| HBA2:c.271A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34163, 37967
660	CD 90 AAG>ATG [Lys>Met] (Hb Munakata)	Hb Handa	HBA1:c.272A>T \| HBA2:c.272A>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34164, 37968
661	CD 90 AAG>AGG [Lys>Arg]	Hb Clinico-Madrid	HBA2:c.272A>G	α2	Causative	α-chain variant	NG_000006.1	34164
3572	CD 90‐92 (-8bp): (‐AGCTTCGG)	N/A	HBA2:c.272_279delAGCTTCGG	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34164
664	CD 90 AAG>AAT (Hb Tagawa-I)	Hb J-Broussais	HBA2:c.273G>T	α2	Causative	α-chain variant	NG_000006.1	34165
2311	CD 91 CTT>TTT [Leu>Phe]	Hb Treviso	HBA2: c.274C>T	α2	Causative	α-chain variant	NG_000006.1	34166
2470	CD 91 CTT>ATT [Leu>Ile]	Hb Zara	HBA2:c.274C>A	α2	Causative	α-chain variant	NG_000006.1	34166
2952	CD 91 CTT>CGT [Leu>Arg]	Hb La Mancha	HBA2:c.275T>G	α2	Causative	α-chain variant	NG_000006.1	34167
2956	CD 91 CTT>CAT [Leu>His]	Hb Kalavasos	HBA2:c.275T>A	α2	Causative	α-chain variant	NG_000006.1	34167
666	CD 91 CTT>CCT [Leu>Pro]	Hb Port Phillip	HBA2:c.275T>C	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34167
667	CD 92 CGG>TGG [Arg>Trp]	Hb Cemenelum	HBA1:c.277C>T \| HBA2:c.277C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34169, 37973
3587	CD 92 CGG>GGG [Arg>Gly]	Hb Leeuwarden	HBA2:c.277C>G	α2	Causative	α-chain variant	NG_000006.1	34169
669	CD 92 CGG>CTG [Arg>Leu]	Hb Chesapeake	HBA2:c.278G>T	α2	Causative	α-chain variant	NG_000006.1	34170
670	CD 92 CGG>CCG [Arg>Pro]	Hb Monou	HBA2:c.278G>C	α2	Causative	α-chain variant	NG_000006.1	34170
389	CD 93 GTG>GGG [Val>Gly]	Hb Bronte	HBA2:c.281T>G	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34173
673	CD 94 GAC>TAC [Asp>Tyr]	Hb Setif	HBA2:c.283G>T	α2	Causative	α-chain variant	NG_000006.1	34175
674	CD 94 GAC>AAC [Asp>Asn]	Hb Titusville	HBA2:c.283G>A	α2	Causative	α-chain variant	NG_000006.1	34175
675	CD 94 GAC>CAC [Asp>His]	Hb Sunshine Seth	HBA2:c.283G>C	α2	Causative	α-chain variant	NG_000006.1	34175
3080	CD 94 (+21 bp duplication)	Hb SKMC	HBA2:c.283_300+3dup	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34175
676	CD 94 GAC>GTC [Asp>Val]	Hb Kirksey	HBA2:c.284A>T	α2	Causative	α-chain variant	NG_000006.1	34176
679	CD 94 GAC>GAG [Asp>Glu]	Hb Roanne	HBA1:c.285C>G \| HBA2:c.285C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34177, 37981
680	CD 95 CCG>GCG [Pro>Ala]	Hb Denmark Hill	HBA2:c.286C>G	α2	Causative	α-chain variant	NG_000006.1	34178
682	CD 95 CCG>TCG [Pro>Ser]	Hb Rampa	NM_000517.4(HBA2):c.286C>T	α2	Causative	α-chain variant	NG_000006.1	34178
683	CD 95 CCG>CTG [Pro>Leu]	Hb G-Georgia	HBA2:c.287C>T	α2	Causative	α-chain variant	NG_000006.1	34179
2375	CD 96 GTC>ATC [Vla>Ile]	Hb El Salvador	HBA2:c.289G>A	α2	Causative	α-chain variant	NG_000006.1	34181
686	CD 96 GTC>GAC [Val>Asp]	Hb El Escorial	HBA2:c.290T>A	α2	Causative	α-chain variant	NG_000006.1	34182
687	CD AAC>CAC [Asn>His] (Hb Shinbashi)	Hb Fuchu-II	HBA2:c.292A>C	α2	Causative	α-chain variant	NG_000006.1	34184
2350	CD 97 AAC>GAC [Asn>Asp]	Hb Cheektowaga	HBA2:c.292A>G	α2	Causative	α-chain variant	NG_000006.1	34184
688	CD 97 AAC>AAA [Asn>Lys]	Hb Dallas	HBA2:c.294C>A	α2	Causative	α-chain variant	NG_000006.1	34186
3988	CD 98 TTC>GTC [Phe>Val]	Hb Xiangzhou	HBA2:c.295T>G	α2	Causative	α-chain variant	NG_000006.1	34187
689	CD 98 TTC>TAC [Phe>Tyr]	Hb Mill Hill	HBA1:c.296T>A \| HBA2:c.296T>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34188, 37992
3610	CD 99 AAG>TAG [Lys>STOP]	N/A	HBA2:c.298A>T	α2	Causative	α-thalassaemia	NG_000006.1	34190
2466	CD 99 AAG>CAG [Lys>Gln]	Hb Burkina Fassa	HBA2:c.298A>C	α2	Causative	α-chain variant	NG_000006.1	34190
2416	CD 99 AAG>ATG [Lys>Met]	N/A	HBA1:c.299A>T	α1	Causative	α-chain variant	NG_000006.1	34191
2424	CD 99 AAG>AGG [Lys>Arg]	Hb Papanui	HBA2:c.299A>G	α2	Causative	α-chain variant	NG_000006.1	34191
2370	CD 99 AAG>AAC [Lys>Asn]	Hb Fulton	HBA2:c.300G>C	α2	Causative	α-chain variant	NG_000006.1	34192
391	IVS II-2 GT>GA donor	N/A	HBA2:c.300+2T>A	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34194
3731	IVS II-34 G>A	N/A	HBA2:c.300+34G>A	α2	Causative	α-thalassaemia	NG_000006.1	34226
300	-α3.7 (type I) (-α3.7)	N/A	NG_000006.1:g.34247_38050del	α2, α1, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34247
2430	203 bp deletion	N/A	NG_000006.1:g.34305_34507del203	α2	Causative	α-thalassaemia	NG_000006.1	34305
392	IVS II-142 G>A	N/A	HBA2:c.301-1G>A	α2	Causative	α-thalassaemia	NG_000006.1	34334
2220	CD 101 CTA>CCA [Leu>Pro]	Hb Bishopstown	HBA2:c.305T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34339
692	CD 102 AGC>CGC [Ser>Arg]	Hb Manitoba I	HBA2:c.307A>C	α2	Causative	α-chain variant	NG_000006.1	34341
2304	CD 102 AGC>AAC (Ser>Asn)	Hb Enschede	HBA2:c.308G>A	α2	Causative	α-chain variant	NG_000006.1	34342
694	CD 102 AGC>AGA [Ser>Arg]	Hb Manitoba III	HBA2:c.309C>A	α2	Causative	α-chain variant	NG_000006.1	34343
696	CD 103 CAC>TAC [His>Tyr]	Hb Lombard	HBA2:c.310C>T	α2	Causative	α-chain variant	NG_000006.1	34344
394	CD 103 CAC>CTC [His>Leu]	Hb Bronovo	HBA2:c.311A>T	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34345
698	CD 103 CAC>CGC [His>Arg]	Hb Contaldo	HBA1:c.311A>G \| HBA2:c.311A>G	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34345, 38156
2420	CD 104 TGC>CGC [Cys>Arg]	Hb Iberia	HBA2:c.313T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34347
3056	CD 104 TGC>AGC [Cys>Ser]	Hb Oegstgeest	HBA2:c.313T>A	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34347
396	CD 104 TGC>TAC [Cys>Tyr]	Hb Sallanches	HBA2:c.314G>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34348
3583	CD 106 CTG>CGG [Leu>Arg]	Hb Beckett	HBA2:c.320T>G	α2	Causative	α-chain variant	NG_000006.1	34354
3913	CD 107 GTG>CTG [Val>Leu]	Hb Liaobu	HBA2:c.322G>C	α2	Causative	α-chain variant	NG_000006.1	34356
2436	CD 107 GTG>G-G	Hb Lynwood	HBA2:c.323delT	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34357
3611	CD 108 ACC>GCC [Thr>Ala]	N/A	HBA2:c.325A>G	α2	Causative	α-thalassaemia	NG_000006.1	34359
4078	CD 108 ACC>CCC [Thr>Pro]	N/A	HBA1:c.325A>C	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34359
2991	CD 108 ACC>AAC [Thr>Asn]	Hb Rogliano	HBA1:c.326C>A	α1	Causative	α-chain variant	NG_000006.1	34360
397	CD 108 ACC>AAC [Thr>Asn]	Hb Bleuland	HBA2:c.326C>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34360
398	CD 109 (-C)	Hb Sciacca	HBA1:c.328delC	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34362
399	CD 109 CTG>CGG [Leu>Arg]	Hb Suan Dok	HBA2:c.329T>G	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34363
2571	CD 109 CTG>CCG [Leu>Pro]	Hb Milano	HBA1:c.329T>C	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34363
704	CD 110 GCC>ACC [Ala>Thr]	Hb Tonosho	HBA1:c.331G>A \| HBA2:c.331G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34365, 38176
401	CD 110 GCC>GAC [Ala>Asp]	Hb Petah Tikva	HBA1:c.332C>A \| HBA2:c.332C>A	α1 or α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34366
706	CD 111 GCC>ACC [Ala>Thr]	Hb Mosella	HBA1:c.334G>A \| HBA2:c.334G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34368, 38179
3982	CD 111 GCC>TCC [Ala>Ser]	Hb Liuzhou-Yufeng	HBA1:c.334G>T	α1	Causative	α-chain variant	NG_000006.1	34368
707	CD 111 GCC>GTC [Ala>Val]	Hb Anamosa	HBA2:c.335C>T	α2	Causative	α-chain variant	NG_000006.1	34369
721	CD 116-117 +15 bp [+His-Leu-Pro-Ala-Glu]	Hb Zaïre	HBA1:c.337_351dup \| HBA2:c.337_351dup	α1 or α2	Causative	α-chain variant	NG_000006.1	34371, 38182
4068	CD 112 CAC>-AC	N/A	HBA2:c.337delC	α2	Causative	α-thalassaemia	NG_000006.1	34371
2360	CD 112 CAC>TAC [His>Tyr]	Hb Kansas City	HBA2:c.337C>T	α2	Causative	α-chain variant	NG_000006.1	34371
2366	CD 112 CAC>AAC [His>Asn]	Hb Royal Oak	HBA2:c.337C>A	α2	Causative	α-chain variant	NG_000006.1	34371
709	CD 112 CAC>CGC [His>Arg] (Hb Serbia)	Hb Strumica	HBA1:c.338A>G \| HBA2:c.338A>G	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34372, 38183
3924	CD 112 CAC>CCC [His>Pro]	Hb Beligneux	HBA2:c.338A>C	α2	Causative	α-chain variant	NG_000006.1	34372
402	CD 112/113 -C	N/A	HBA2:c.339delC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34373
404	CD 113-116 (-12 bp) & CD 112 (C>G)	Hb Leida	HBA2:c.[339C>G;340_351delCTCCCCGCCGAG]	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34373
3482	CD 113 CTC>TTC [Leu>Phe]	Hb Pretoria	HBA2:c.340C>T	α2	Causative	α-chain variant	NG_000006.1	34374
711	CD 113 CTC>CGC [Leu>Arg]	Hb San Antonio	HBA2:c.341T>G	α2	Causative	α-chain variant	NG_000006.1	34375
712	CD 113 CTC>CAC [Leu>His]	Hb Twin Peaks	HBA1:c.341T>A \| HBA2:c.341T>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34375, 38186
713	CD 114 CCC>TCC [Pro>Ser]	Hb Melusine	NM_000517.6(HBA2):c.343C>T	α2	Causative	α-chain variant	NG_000006.1	34377
714	CD 114 CCC>ACC [Pro>Thr] (Hb Bamako)	Hb Jura	HBA2:c.343C>A	α2	Causative	α-chain variant	NG_000006.1	34377
716	CD 114 CCC>CGC [Pro>Arg]	Hb Chiapas	HBA1:c.344C>G \| HBA2:c.344C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34378, 38189
2527	CD 114 (+CC)	N/A	HBA2:c.344_345dup	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34378
3140	CD 114 CCC>CC-	N/A	HBA2:c.345delC	α2	Causative	α-thalassaemia	NG_000006.1	34379
2369	CD 115 -GCC [-Ala]	Hb Towson	HBA2:c.346_348delGCC	α2	Causative	α-chain variant	NG_000006.1	34380
717	CD 115 GCC>GAC [Ala>Asp]	Hb J-Tongariki	HBA1:c.347C>A \| HBA2:c.347C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34381, 38192
405	CD 116 GAG>TAG	N/A	HBA2:c.349G>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34383
718	CD 116 GAG>CAG [Glu>Gln]	Hb Oleander	HBA1:c.349G>C \| HBA2:c.349G>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34383, 38194
2221	CD 115 -GAGTTCACCCC [166 aa]	N/A	HBA2:c.349_359delGAGTTCACCCC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34383
3041	CD 116 GAG>AAG [Glu>Lys]	Hb O-Indonesia	HBA2:c.349G>A	α2	Causative	α-chain variant	NG_000006.1	34383
2337	CD 116 GAG>GTG [Glu>Val]	Hb Walsgrave	HBA2:c.350A>T	α2	Causative	α-chain variant	NG_000006.1	34384
722	CD 117 TTC>ATC [Phe>Ile]	Hb Ambroise Pare	HBA2:c.352T>A	α2	Causative	α-chain variant	NG_000006.1	34386
2023	CD 117 TTC>TCC [Phe>Ser]	Hb Foggia	HBA2:c.353T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34387
3970	CD 117 TTC>TTG [Phe>Leu]	Hb Jendouba	HBA2:c.354C>G	α2	Causative	α-chain variant	NG_000006.1	34388
2951	CD 118 ACC>ATC [Thr>Ile]	Hb Cervantes	HBA2:c.356C>T	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34390
3028	CD 119 CCT>TCT [Pro>Ser]	Hb Macarena	HBA2:c.358C>T	α2	Causative	α-chain variant	NG_000006.1	34392
3271	CD 119 CCT>GCT [Pro>Ala] (Hb Lakeview Terrace)	Hb Arcadia	HBA2:c.358C>G	α2	Causative	α-chain variant	NG_000006.1	34392
3716	CD 119 CCT>CAT [Pro>His]	N/A	HBA2:c.359C>A	α2	Causative	α-chain variant	NG_000006.1	34393
727	CD 120 GCG>GAG [Ala>Glu] (Hb J-Birmingham)	Hb J-Meerut	HBA2:c.362C>A	α2	Causative	α-chain variant	NG_000006.1	34396
3029	CD 121 (+3bp): (+GTG)	Hb El Retiro	HBA2:c.364_366dupGTG	α2	Causative	α-chain variant	NG_000006.1	34398
3042	CD 122 CAC>TAC [His>Tyr]	Hb Yanase	HBA2:c.367C>T	α2	Causative	α-chain variant	NG_000006.1	34401
2356	CD 122 CAC>CTC [His>Leu]	Hb Dubai	HBA2:c.368A>T	α2	Causative	α-chain variant	NG_000006.1	34402
3961	CD 122/123 (-CG,+GA)	Hb Nanning	HBA2:c.369_370delinsGA	α2	Causative	α-chain variant	NG_000006.1	34403
730	CD 122 CAC>CAG [His>Gln]	Hb Westmead	HBA2:c.369C>G	α2	Causative	α-chain variant	NG_000006.1	34403
731	CD 123 GCC>ACC [Ala>Thr] (Hb Croxley Green)	Hb Santa Barnabas	HBA2:c.370G>A	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34404
2457	CD 123 GCC>GTC [Ala>Val]	Hb Pressath	HBA2:c.371C>T	α2	Causative	α-chain variant	NG_000006.1	34405
734	CD 124 TCC>CCC [Ser>Pro]	Hb Policoro	HBA2:c.373T>C	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34407
3748	CD 124 TCC>ACC [Ser>Thr]	Hb Huadu	HBA2:c.373T>A	α2	Causative	α-chain variant	NG_000006.1	34407
2444	CD 124 TCC>TTC [Ser>Phe]	Hb Batley	HBA1:c.374C>T \| HBA2:c.374C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34408, 38219
3862	CD 125 (+C)	N/A	HBA2:c.376dupC	α2	Causative	α-thalassaemia	NG_000006.1	34410
408	CD 125 CTG>CCG [Leu>Pro]	Hb Quong Sze	HBA2:c.377T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34411
409	CD 125 CTG>CGG [Leu>Arg]	Hb Plasencia	HBA2:c.377T>G	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34411
736	CD 125 CTG>CAG [Leu>Gln]	Hb West-Einde	HBA2:c.377T>A	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34411
3305	CD 126 GCG>-CG	N/A	HBA2:c.379delG	α2	Causative	α-thalassaemia	NG_000006.1	34413
3758	CD 126 GAC>AAC [Asp>Asn]	Hb Tarrant	HBA2:c.379G>A	α2	Causative	α-chain variant	NG_000006.1	34413
741	CD 126 GAC>GGC [Asp>Gly]	Hb West One	HBA2:c.380A>G	α2	Causative	α-chain variant	NG_000006.1	34414
742	CD 126 GAC>GGC [Asp>Val]	Hb Fukutomi	HBA1:c.380A>T \| HBA2:c.380A>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34414, 38225
2338	CD 127 AAG>GAG [Lys>Glu]	Hb Coombe Park	HBA2:c.382A>G	α2	Causative	α-chain variant	NG_000006.1	34416
2519	CD 127 AAG>TAG [Lys>STOP]	N/A	HBA2:c.382A>T	α2	Causative	α-thalassaemia	NG_000006.1	34416
2530	CD 127 AAG>AGG [Lys>Arg]	Hb Longview	HBA2:c.383A>G	α2	Causative	α-chain variant	NG_000006.1	34417
3612	CD 127 AAG>ATG [Lys>Met]	N/A	HBA2:c.383A>T	α2	Causative	α-thalassaemia	NG_000006.1	34417
744	CD 127 AAG>ACG [Lys>Thr]	Hb St. Claude	HBA1:c.383A>C \| HBA2:c.383A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34417, 38228
745	CD 127 AAG>AAT or AAC [Lys>Asn]	Hb Jackson	HBA1:c.384G>C \| HBA1:c.384G>T \| HBA2:c.384G>C \| HBA2:c.384G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34418, 38229
2480	CD 129 CTG>-TG	Hb Hamilton Hill	HBA2:c.388delC	α2	Causative	α-chain variant	NG_000006.1	34422
412	CD 129 CTG>CCG [Leu>Pro]	Hb Utrecht	HBA2:c.389T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34423
3613	CD 129 CTG>CGG [Leu>Arg]	N/A	HBA2:c.389T>G	α2	Causative	α-thalassaemia	NG_000006.1	34423
413	CD 130 GCT>CCT [Ala>Pro]	Hb Sun Prairie	HBA2:c.391G>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34425
750	CD 130 GCT>GAT [Ala>Asp]	Hb Yuda	HBA2:c.392C>A	α2	Causative	α-chain variant	NG_000006.1	34426
414	CD 131 TCT>CCT [Ser>Pro]	Hb Questembert	HBA2:c.394T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34428
415	CD 132 GTG>GGG [Val>Gly]	Hb Caen	HBA1:c.398T>G \| HBA2:c.398T>G	α1 or α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34432
4085	CD 132 (+T)	Hb Balkh	HBA2:c.398dup	α2	Causative	α-chain variant	NG_000006.1	34432
3404	CD 133-135 (-AGCACCG)	Hb Aalesund	HBA2:c.400_406del	α2	Causative	α-chain variant	NG_000006.1	34434
756	CD 133 AGC>AAC [Ser>Asn]	Hb Saclay	HBA1:c.401G>A \| HBA2:c.401G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34435, 38246
757	CD 133 AGC>AGA [Ser>Arg] (Hb Footscray)	Hb Val de Marne	HBA2:c.402C>A	α2	Causative	α-chain variant	NG_000006.1	34436
758	CD 134 ACC>GCC [Thr>Ala]	Hb Brunswick	HBA2:c.403A>G	α2	Causative	α-chain variant	NG_000006.1	34437
759	CD 134 ACC>AGC or TCC [Thr>Ser]	Hb Kenton	HBA1:c.403A>T \| HBA1:c.404C>G \| HBA2:c.403A>T \| HBA2:c.404C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34437, 34438, 38248, 38249
761	CD 135 GTG>CTG [Val>Leu]	Hb Tottenham	HBA2:c.406G>C	α2	Causative	α-chain variant	NG_000006.1	34440
764	CD 136 CTG>ATG [Leu>Met]	Hb Chicago	HBA2:c.409C>A	α2	Causative	α-chain variant	NG_000006.1	34443
417	CD 136 CTG>CCG [Leu>Pro]	Hb Bibba	HBA2:c.410T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34444
766	CD 136 CTG>CGG [Leu>Arg]	Hb Toyama	HBA1:c.410T>G \| HBA2:c.410T>G	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34444, 38255
2540	CD 137-138 ACCTCC>ACTCTC	Hb Pohnpei	HBA2:c.414_416delinsTCT	α2	Causative	α-chain variant	NG_000006.1	34448
768	CD 138 TCC>CCC [Ser>Pro]	Hb Attleboro	HBA1:c.415T>C \| HBA2:c.415T>C	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34449, 38260
770	CD 138 TCC>TTC [Ser>Phe]	Hb Frauenfeld	HBA2:c.416C>T	α2	Causative	α-chain variant	NG_000006.1	34450
772	CD 139 AAA>GAA [Lys>Glu]	Hb Hanamaki-2	HBA2:c.418A>G	α2	Causative	α-chain variant	NG_000006.1	34452
3379	CD 139 AAA>CAA [Lys>Gln]	Hb Jilin	HBA2:c.418A>C	α2	Causative	α-chain variant	NG_000006.1	34452
2981	CD 139 AAA>AGA [Lys>Arg]	Hb Witham	HBA2:c.419A>G	α2	Causative	α-chain variant	NG_000006.1	34453
774	CD 139 AAA>AAC [Lys>Asn]	Hb Fukui	HBA2:c.420A>C	α2	Causative	α-chain variant	NG_000006.1	34454
775	CD 139 (-A)	Hb Wayne	HBA2:c.420delA	α2	Causative	α-chain variant	NG_000006.1	34454
3712	CD 140 TAC>TCC [Tyr>Ser]	Hb Angers	HBA2:c.422A>C	α2	Causative	α-chain variant	NG_000006.1	34456
777	CD 140 TAC>TAA	Hb Natal	HBA2:c.423C>A	α2	Causative	α-chain variant	NG_000006.1	34457
778	CD 141 CGT>CAT [Arg>Ser]	Hb J-Cubujuqui	HBA1:c.424C>A \| HBA2:c.424C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34458, 38269
780	CD 141 CTG>TGT [Arg>Cys]	Hb Nunobiki	HBA2:c.424C>T	α2	Causative	α-chain variant	NG_000006.1	34458
781	CD 141 CGT>CCT [Arg>Pro]	Hb Singapore	HBA2:c.425G>C	α2	Causative	α-chain variant	NG_000006.1	34459
418	CD 142 (TAA>CAA) >172aa	Hb Constant Spring	HBA2:c.427T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34461
419	CD 142 (TAA>AAA) >172aa	Hb Icaria	HBA2:c.427T>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34461
421	CD 142 (TAA>GAA) >172aa	Hb Seal Rock	HBA2:c.427T>G	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34461
785	CD 142 TAA>CAA>CAT	Hb Zurich-Altstetten	HBA2:c.[427T>C;429A>T]	α2	Causative	α-chain variant	NG_000006.1	34461
420	CD 142 TAA>TCA >172aa	Hb Koya Dora	HBA2:c.428A>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34462
2526	CD 142 TAA>TTA >172aa	Hb Kinshasa	HBA2:c.428A>T	α2	Causative	α-chain variant	NG_000006.1	34462
422	CD 142 (TAA>TAT) >172aa	Hb Paksé	HBA2:c.429A>T	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34463
2230	-α3.7 (type II)	N/A	NG_000006.1:g.34478_38288del	α2, α1, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34478
2226	3'UTR +46 C>A	N/A	HBA2:c.*46C>A	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34509
3753	3'UTR +71 G>C	N/A	HBA2:c.*71G>C	α2	Causative	α-thalassaemia	NG_000006.1	34534
428	3'UTR -16 bp	N/A	HBA2:c.74_89delCCTTCCTGGTCTTTGA	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34537
3733	3'UTR +82 G>A	N/A	HBA2:c.*82G>A	α2	Causative	α-thalassaemia	NG_000006.1	34545
4041	3.8 kb deletion	N/A	NC_000016.10:g.173682_177493del	α2, α1	Causative	α-thalassaemia	NG_000006.1	34545
4111	Poly A (AATAAA>AAΑΑΑ)	N/A	HBA2:c.*91delT	α2	Causative	α-thalassaemia	NG_000006.1	34554
425	Poly A (AATAAA>AATGAA) (αPolyA2)	N/A	HBA2:c.*92A>G	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34555
426	Poly A (AATAAA>AATA--)	N/A	HBA2:c.93_94delAA	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34556
424	Poly A (AATAAA>AATAAG) (αPolyA1, αT-Saudi)	N/A	HBA2:c.*94A>G	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34557
427	Poly A (AATAAA>AATAAC)	N/A	HBA2:c.*94A>C	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34557
3805	Poly A (AATAAA>AATAAG);CD 94 (+21 bp duplication)	N/A	NG_000006.1:g.[34557A>G;37979_379996dup]	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34557
3734	3'UTR +98 T>C	N/A	HBA2:c.*98T>C	α2	Causative	α-thalassaemia	NG_000006.1	34561
2228	3'UTR +107 A>G (3' UTR +832 G>A)	N/A	HBA2:c.*107A>G	α2	Causative	α-thalassaemia	NG_000006.1	34570
2231	-α3.7 (type III)	N/A	NG_000006.1:g.34570_38381del	α2, α1, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34570
2263	α-ZF	N/A	NC_000016.10:g.174046_192396del	α1	Causative	α-thalassaemia	NG_000006.1	34909
303	-α2.7	N/A	NG_000006.1:g.36664_39364del2701	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	36664
302	-α2.4	N/A	NG_000006.1:g.36859_39252del	α1	Causative	α-thalassaemia	NG_000006.1	36859
304	-α3.5	N/A	NG_000006.1:g.37464_40964del3501	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37464
3764	-4 G>C	N/A	HBA1:c.-41C>G	α1	Causative	α-thalassaemia	NG_000006.1	37539
340	CAP +22 T>C	N/A	HBA1:c.-16T>C	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37564
3735	Cap +23 C>G	N/A	HBA1:c.-15C>G	α1	Causative	α-thalassaemia	NG_000006.1	37565
2203	CAP +29 (G>C)	N/A	HBA1:c.-9G>C	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37571
341	Init CD ATG>GTG	N/A	HBA1:c.1A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37580
3147	Init CD ATG>AAG [Met>Lys]	N/A	HBA1:c.2T>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37581
3250	Init CD ATG>A-G	N/A	HBA1:c.2delT	α1	Causative	α-thalassaemia	NG_000006.1	37581
3719	Init CD ATG>ACG [Met>Thr]	N/A	HBA1:c.2T>C	α1	Causative	α-thalassaemia	NG_000006.1	37581
429	CD 1 GTG>TTG [Val>Leu]	Hb Baldock	HBA1:c.4G>T	α1	Causative	α-chain variant	NG_000006.1	37583
435	CD 2 CTG>CGG [Leu>Arg]	Hb Chongqing	HBA1:c.8T>G	α1	Causative	α-chain variant	NG_000006.1	37587
3699	CD 2 CTG>CCG [Leu>Pro]	Hb Kaiser West End	HBA1:c.8T>C	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37587
2352	CD 2/3 +CTG [+Leu]	Hb Pittsburgh	HBA1:c.9_10insCTG	α1	Causative	α-chain variant	NG_000006.1	37588
437	CD 3 TCT>TTT [Ser>Phe]	Hb Douala	HBA1:c.11C>T	α1	Causative	α-chain variant	NG_000006.1	37590
3981	CD 5 GCC>ACC [Ala>Thr]	Hb Hengqin I	HBA1:c.16G>A	α1	Causative	α-chain variant	NG_000006.1	37595
441	CD 5 GCC>GAC [Ala>Asp]	Hb J-Toronto	HBA1:c.17C>A	α1	Causative	α-chain variant	NG_000006.1	37596
442	CD 6 GAC>TAC [Asp>Tyr]	Hb Woodville	HBA1:c.19G>T	α1	Causative	α-chain variant	NG_000006.1	37598
444	CD 6 GAC>CAC [Asp>His]	Hb Galliera I	HBA1:c.19G>C	α1	Causative	α-chain variant	NG_000006.1	37598
3922	CD 6 GAC>GAG [Asp>Glu]	Hb Brammer	HBA1:c.21C>G	α1	Causative	α-chain variant	NG_000006.1	37600
450	CD 7 AAG>GAG [Lys>Glu]	Hb Kurosaki	HBA1:c.22A>G	α1	Causative	α-chain variant	NG_000006.1	37601
4006	CD 7 AAG>A-G (g.188 (GenBank MK600512.1))	N/A	HBA1:c.23delA	α1	Causative	α-thalassaemia	NG_000006.1	37602
2987	CD 9 AAC>GAC [Asn>Asp]	Hb Farnborough	HBA1:c.28A>G	α1	Causative	α-chain variant	NG_000006.1	37607
453	CD 9 AAC>AGC [Asn>Ser]	Hb Anadour	HBA1:c.29A>G	α1	Causative	α-chain variant	NG_000006.1	37608
456	CD 9 AAC>AAG or AAA [Asn>Lys]	Hb Delfzicht	HBA1:c.30C>G \| HBA1:c.30C>A	α1	Causative	α-chain variant	NG_000006.1	37609
3953	CD 11 AAG>CAG [Lys>Gln]	Hb J-Wenchang-Wuming	HBA1:c.34A>C	α1	Causative	α-chain variant	NG_000006.1	37613
461	CD 12 GCC>GAC [Ala>Asp] (Hb J-Aljezur)	Hb J-Paris-I	HBA2:c.38C>A	α2	Causative	α-chain variant	NG_000006.1	37617
2386	CD 13 GCC>ACC [Ala>Thr]	Hb Olivet	HBA1:c.40G>A	α1	Causative	α-chain variant	NG_000006.1	37619
347	CD 14 TGG>CGG [Trp>Arg]	Hb Evanston	HBA1:c.43T>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37622
349	CD 14 TGG>TAG [Trp>STOP]	N/A	HBA1:c.44G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37623
2380	CD 14 TGG>TTG [Trp>Leu]	Hb Basel	HBA1:c.44G>T	α1	Causative	α-chain variant	NG_000006.1	37623
2365	CD 15 GGT>TGT [Gly>Cys]	Hb St. Rose	HBA1:c.46G>T	α1	Causative	α-chain variant	NG_000006.1	37625
465	CD 15 GGT>CGT [Gly>Arg] (Hb Siam)	Hb Ottawa	HBA1:c.46G>C	α1	Causative	α-chain variant	NG_000006.1	37625
466	cd 15 GGT>GAT [Gly>Asp] (Hb J-Oxford , Hb N-Cosenza)	Hb I-Interlaken	HBA1:c.47G>A	α1	Causative	α-chain variant	NG_000006.1	37626
2509	CD 16 AAG>GAG [Lys>Glu] (Hb I-Burlington, Hb I-Philadelphia, Hb I-Skamania, Hb I-Texas)	HbI	HBA1:c.49A>G	α1	Causative	α-chain variant	NG_000006.1	37628
3395	CD 16 AAG>TAG [Lys>STOP]	N/A	HBA1:c.49A>T	α1	Causative	α-thalassaemia	NG_000006.1	37628
468	CD 16 AAG>ATG [Lys>Met]	Hb Harbin	HBA1:c.50A>T	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37629
471	CD 18 GGC>CGC [Gly>Arg]	Hb Handsworth	HBA1:c.55G>C	α1	Causative	α-chain variant	NG_000006.1	37634
2353	CD 18 GGC>TGC [Gly>Cys]	Hb Lima	HBA1:c.55G>T	α1	Causative	α-chain variant	NG_000006.1	37634
3000	CD 18 GGC>AGC [ Gly>Ser]	Hb King Ecgbert	HBA1:c.55G>A	α1	Causative	α-chain variant	NG_000006.1	37634
2205	CD 20 +T	N/A	HBA1:c.62_63insT	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37641
2285	CD 20 CAC>CCC [His>Pro] (Hb Anderlecht)	Hb Fulton-Georgia	HBA1:c.62A>C	α1	Causative	α-chain variant	NG_000006.1	37641
2317	CD 20 CAC>CAA [His>Gln] (Hb Le Lamentin)	Hb Brugg	HBA1:c.63C>A	α1	Causative	α-chain variant	NG_000006.1	37642
4102	CD 20 CAC>CAG [His>Gln]	Hb Ormylia	HBA1:c.63C>G	α1	Causative	α-chain variant	NG_000006.1	37642
482	CD 21 GCT>GAT [Ala>Asp]	Hb J-Nyanza	HBA1:c.65C>A	α1	Causative	α-chain variant	NG_000006.1	37644
3266	CD 22 GGC>GGT [Gly>Gly]	N/A	HBA1:c.69C>T	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37648
3267	CD 23 GAG>TAG	N/A	HBA1:c.70G>T	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37649
3757	CD 23 GAG>CAG [Glu>Gln]	Hb Memphis	HBA1:c.70G>C	α1	Causative	α-chain variant	NG_000006.1	37649
491	CD 24 TAT>TGT [Tyr>Cys]	Hb Ramona	HBA1:c.74A>G	α1	Causative	α-chain variant	NG_000006.1	37653
3954	CD 16 AAG>AAC [Lys>Asn]	Hb Beijing	HBA1:c.51G>C	α1	Causative	α-chain variant	NG_000006.1	37656
3942	CD 26 GCG>GGG [Ala>Gly]	N/A	HBA1:c.80C>G	α1	Causative	α-thalassaemia	NG_000006.1	37659
2510	CD 27 GAG>GAC [Glu>Asp]	Hb Hekinan	HBA1:c.84G>C	α1	Causative	α-chain variant	NG_000006.1	37663
2983	CD 27 GAG>GAT [Glu>Asp]	Hb Hekinan II	HBA1:c.84G>T	α1	Causative	α-chain variant	NG_000006.1	37663
2995	CD 28 GCC>ACC [Ala>Thr]	Hb Bramall Lane	HBA1:c.85G>A	α1	Causative	α-chain variant	NG_000006.1	37664
3032	CD 28 GCC>TCC [Ala>Ser]	N/A	HBA1:c.85G>T	α1	Causative	α-thalassaemia	NG_000006.1	37664
2313	CD 28 GCC>GTC [Ala>Val]	Hb Nedlands	HBA1:c.86C>T	α1	Causative	α-chain variant	NG_000006.1	37665
2310	CD 29 CTG>GTG [Leu>Val]	Hb Kosovo	HBA1:c.88C>G	α1	Causative	α-chain variant	NG_000006.1	37667
3030	CD 30 GAG>TAG	N/A	HBA1:c.91G>T	α1	Causative	α-thalassaemia	NG_000006.1	37670
3767	CD 30 GAG>AAG [Glu>Lys]	Hb O-Padova	HBA1:c.91G>A	α1	Causative	α-chain variant	NG_000006.1	37670
502	CD 30 GAG>CAG [Glu>Gln] (Hb G-Chinese, Hb G-Hong Kong, Hb G-Singapore)	Hb G-Honolulu	NM_000558.5(HBA1):c.91G>C	α1	Causative	α-chain variant	NG_000006.1	37670
504	CD 30 GAG>GCG [Glu>Ala]	Hb Bom Jesus da Lapa	HBA1:c.92A>C	α1	Causative	α-chain variant	NG_000006.1	37671
505	CD 30 GAG>GTG [Glu>Val]	Hb Itapira	HBA1:c.92A>T	α1	Causative	α-chain variant	NG_000006.1	37671
2402	CD 31 AGG>ACG [Arg>Thr]	Hb Mao	HBA1:c.95G>C	α1	Causative	α-chain variant	NG_000006.1	37674
3049	IVS I-1 AGGT>AGCT donor	N/A	HBA1:c.95+1G>C	α1	Causative	α-thalassaemia	NG_000006.1	37675
358	IVS I-1 AGGT>AGAT donor	N/A	HBA1:c.95+1G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37675
2204	IVS I-4 A>G	N/A	HBA1:c.95+4A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37678
361	IVS I-5 G>A	N/A	HBA1:c.95+5 G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37679
3431	IVS I-38 C>T	N/A	HBA1:c.95+38C>T	α1	Causative	α-thalassaemia	NG_000006.1	37712
2212	IVS I-45 G>C	N/A	HBA1:c.95+45G>C	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37719
2451	IVS I-116 A>G	N/A	HBA1:c.96-2A>G	α1	Causative	α-thalassaemia	NG_000006.1	37790
3251	IVS I-117 GCAGGA>GCACGA acceptor	N/A	HBA1:c.96-1G>C	α1	Causative	α-thalassaemia	NG_000006.1	37791
364	IVS I-117 GCAGGA>GCAAGA acceptor	N/A	HBA1:c.96-1G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37791
2381	CD 32 ATG>AAG [Met>Lys] (Hb Chao Pra Ya)	Hb Queens Park	HBA1:c.98T>A	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37794
2986	CD 32 ATG>ACG [Met>Thr]	Hb Bridlington	HBA1:c.98T>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37794
3252	CD 32 ATG>ATA [Met>Ile]	Hb Amsterdam-A1	HBA1:c.99G>A	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37795
509	CD 34 CTG>CGG [Leu>Arg] (Hb Ogi)	Hb Queens	HBA1:c.104T>G	α1	Causative	α-chain variant	NG_000006.1	37800
2968	CD 36 TTC>TAC [ Phe>Tyr]	Hb Kempten	HBA1:c.110T>A	α1	Causative	α-chain variant	NG_000006.1	37806
370	CD 37 -CCC [-Pro)	Hb Heraklion	HBA1:c.112_114delCCC	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37808
4077	CD 37 CCC>CC-	N/A	HBA1:c.114del	α1	Causative	α-thalassaemia	NG_000006.1	37810
517	CD 38 ACC>ATC [Thr>Ile]	Hb Chelsea	HBA1:c.116C>T	α1	Causative	α-chain variant	NG_000006.1	37812
371	CD 39 (-ACC) [-Thr]	Hb Taybe	HBA1:c.118_120del	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37814
3403	CD 39 +A	N/A	HBA2:c.118_119insA	α2	Causative	α-thalassaemia	NG_000006.1	37814
3856	CD 40-41 (-AAGACC)	N/A	HBA1:c.121_126delAAGACC	α1	Causative	α-thalassaemia	NG_000006.1	37817
522	CD 40 AAG>ACG [Lys>Thr]	Hb Pisa	HBA1:c.122A>C	α1	Causative	α-chain variant	NG_000006.1	37818
523	CD 40 AAG>AAC [Lys>Asn]	Hb Saratoga Springs	HBA1:c.123G>C	α1	Causative	α-chain variant	NG_000006.1	37819
2385	CD 42 TAC>TCC [Tyr>Ser]	Hb Erzeroum	HBA1:c.128A>C	α1	Causative	α-chain variant	NG_000006.1	37824
3557	CD 43 TTC>CTC [Phe>Leu]	Hb Vanvitelli	HBA1:c.130T>C	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37826
3264	CD 44 CCG>TCG [Pro>Ser]	Hb Wiangpapao	HBA1:c.133C>T	α1	Causative	α-chain variant	NG_000006.1	37829
530	CD 44 CCG>GCG [Pro>Ala] (Hb Milne)	Hb Hagerstown	HBA1:c.133C>G	α1	Causative	α-chain variant	NG_000006.1	37829
2468	CD 44 +C	N/A	HBA1:c.134_135insC	α1	Causative	α-thalassaemia	NG_000006.1	37830
536	CD 45 CAC>CGC [His>Arg]	Hb Fort de France	HBA1:c.137A>G	α1	Causative	α-chain variant	NG_000006.1	37833
542	CD 47 GAC>AAC [Asp>Asn]	Hb Arya	HBA1:c.142G>A	α1	Causative	α-chain variant	NG_000006.1	37838
2500	CD 47 GAC>CAC [Asp>His] (Hb L-Ferrara, Hb Michigan-I, Hb Michigan-II, Hb Sealy, Hb Sinai)	Hb Hasharon	HBA1:c.142G>C	α1	Causative	α-chain variant	NG_000006.1	37838
547	CD 48 CTG>CCG [Leu>Pro]	Hb Reading	HBA1:c.146T>C	α1	Causative	α-chain variant	NG_000006.1	37842
3040	CD 48 CTG>CGG [Leu>Arg]	Hb Montgomery	HBA1:c.146T>G	α1	Causative	α-chain variant	NG_000006.1	37842
3026	CD 49 AGC>CGC [Ser>Arg]	Hb Puerta del Sol	HBA1:c.148A>C	α1	Causative	α-chain variant	NG_000006.1	37844
2993	CD 49 AGC>AAC [Ser>Asn]	Hb Furuset	HBA1:c.149G>A	α1	Causative	α-chain variant	NG_000006.1	37845
2529	CD 50 +GGAGCC	Hb Bakersfield	HBA1:c.151_152insGGAGCC	α1	Causative	α-chain variant	NG_000006.1	37847
550	CD 50 CAC>CTC [His>Leu]	Hb Dublin	NM_000558.5(HBA1):c.152A>T	α1	Causative	α-chain variant	NG_000006.1	37848
2501	CD 50 CAC>CAG [His>Gln]	Hb Frankfurt	HBA1:c.153C>G	α1	Causative	α-chain variant	NG_000006.1	37849
2502	CD 51 GGC>CGC [Gly>Arg]	Hb Russ	HBA1:c.154G>C	α1	Causative	α-chain variant	NG_000006.1	37850
553	CD 51 GGC>AGC [Gly>Ser]	Hb Riccarton	HBA1:c.154G>A	α1	Causative	α-chain variant	NG_000006.1	37850
375	CD 51-55 (-13 bp deletion)	N/A	HBA1:c.155_167delGCTCTGCCCAGGT	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37851
556	CD 52-59 (-24 bp)	Hb J-Biskra	HBA1:c.157_180del	α1	Causative	α-chain variant	NG_000006.1	37853
3442	CD 51-58 (+24 bp)	Hb Choisy	HBA1:c.157_180dupTCTGCCCAGGTTAAGGGCCACGGC	α1	Causative	α-chain variant	NG_000006.1	37853
3560	CD 52 TCT>TGT [Ser>Cys]	Hb Dongguan	HBA1:c.158C>G	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37854
4009	CD53 GCC>ACC [Ala>Thr] (g.443 (GenBank MK600512.1))	N/A	HBA1:c.160G>A	α1	Causative	α-thalassaemia	NG_000006.1	37856
559	CD 54 CAG>GAG [Gln>Glu] (Hb J-Paris-II, Hb Uppsala)	Hb Mexico	HBA1:c.163C>G	α1	Causative	α-chain variant	NG_000006.1	37859
560	CD 54 CAG>CGG [Gln>Arg] (Hb Hikoshima)	Hb Shimonoseki	HBA1:c.164A>G	α1	Causative	α-chain variant	NG_000006.1	37860
2417	CD 54 CAG>CGG [Gln>Arg]	Hb Shimonoseki	HBA1:c.164A>G	α1, α3.7 hybrid	Causative	α-thalassaemia	NG_000006.1	37860
3626	CD 54 CAG>CAT [Gln>His]	Hb Goole	HBA1:c.165G>T	α1	Causative	α-chain variant	NG_000006.1	37861
561	CD 55 GTT>CTT [Val>Leu] (Hb Poland)	Hb Roubaix	HBA1:c.166G>C	α1	Causative	α-chain variant	NG_000006.1	37862
562	CD 55 GTT>GCT [Val>Ala] (Hb Gerland 1)	Hb Gerland	HBA1:c.167T>C	α1	Causative	α-chain variant	NG_000006.1	37863
566	CD 56 AAG>ACG [Lys>Thr]	Hb Thailand	HBA1:c.170A>C	α1	Causative	α-chain variant	NG_000006.1	37866
567	CD 56 AAG>AAT or AAC [Lys>Asn]	Hb Belliard	HBA1:c.171G>C \| HBA1:c.171G>T	α1	Causative	α-chain variant	NG_000006.1	37867
568	CD 57 GGC>CGC [Gly>Arg]	Hb L-Persian Gulf	HBA1:c.172G>C	α1	Causative	α-chain variant	NG_000006.1	37868
3075	CD 56/57 (+24bp) (HBA1:p.Lys57_Gly58insSerHisGlySerAlaGlnValLys , Hb KSVGH)	Hb Kaohsiung Veterans General Hospital	HBA1:c.171_172insAGCCACGGCTCTGCCCAAGTTAGG	α1	Causative	α-chain variant	NG_000006.1	37868
3962	CD 57 GGC>TGC [Gly>Cys]	Hb Kirikiriroa	HBA1:c.172G>T	α1	Causative	α-chain variant	NG_000006.1	37868
3175	CD 58 CAC>CTC [His>Leu]	Hb Kirklareli	HBA1:c.176A>T	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37872
3280	CD 59 GGC>CGC [Gly>Arg]	Hb Zurich-Albisrieden	HBA1:c.178G>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37874
573	CD 59 GGC>AGC [Gly>Ser]	Hb Parma	HBA1:c.178G>A	α1	Causative	α-chain variant	NG_000006.1	37874
378	CD 59 GGC>GAC [Gly>Asp]	Hb Adana	HBA1:c.179G>A	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37875
3624	CD 60 AAG>GAG [Lys>Glu]	Hb Liuzhou	HBA1:c.182A>G	α1	Causative	α-chain variant	NG_000006.1	37878
578	CD 60 AAG>AAT	Hb Zambia	HBA1:c.183G>T	α1	Causative	α-chain variant	NG_000006.1	37879
380	CD 61 (-AAG)	Hb Clinic	HBA1:c.184_186del	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37880
3334	CD 61 AAG>TAG [Lys>STOP]	N/A	HBA1:c.184A>T	α1	Causative	α-thalassaemia	NG_000006.1	37880
3717	CD 61 AAG>-AG	N/A	HBA1:c.184del	α1	Causative	α-thalassaemia	NG_000006.1	37880
2982	CD 61 AAG>AGG [Lys>Arg]	Hb Derby	HBA1:c.185A>G	α1	Causative	α-chain variant	NG_000006.1	37881
582	CD AAG>AAT [Lys>Asn]	Hb J-Buda	HBA1:c.186G>T	α1	Causative	α-chain variant	NG_000006.1	37882
381	CD 62 (-GTG) [-Val]	Hb Aghia Sophia	HBA1:c.187_189del	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37883
382	CD 62 GTG>-TG	Hb Champaign	HBA1:c.187delG	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37883
2429	CD 62 GTG>GCG [Val>Ala]	N/A	HBA1:c.188T>C	α1	Causative	α-thalassaemia	NG_000006.1	37884
2347	CD 62 -G	N/A	HBA1:c.189delG	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37885
3015	CD 63 GCC>ACC [Ala>Thr]	Hb Greenville-NC	HBA1:c.190G>A	α1	Causative	α-chain variant	NG_000006.1	37886
585	CD 63 GCC>GAC [Ala>Asp] (Hb J-Pontoise)	Hb Pontoise	NM_000558.5(HBA1):c.191C>A	α1	Causative	α-chain variant	NG_000006.1	37887
383	CD 64-74 (-33 bp)	N/A	HBA1:c.193_225del33	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37889
587	CD 64 GAC>CAC [Asp>His]	Hb Q-India	HBA1:c.193G>C	α1	Causative	α-chain variant	NG_000006.1	37889
2528	CD 64 GAC>AAC [Asp>Asn] (Hb Wädenswil, Hb Burgos)	Hb G-Waimanalo	HBA1:c.193G>A	α1	Causative	α-chain variant	NG_000006.1	37889
2455	CD 64 GAC>GCC [Asp>Ala]	Hb Lucan	HBA1:c.194A>C	α1	Causative	α-chain variant	NG_000006.1	37890
3788	CD 65 GCG>CCG [Ala>Pro]	Hb Maruchi	HBA1:c.196G>C	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37892
3373	CD 67 ACC>-CC	N/A	HBA1:c.202delA	α1	Causative	α-thalassaemia	NG_000006.1	37898
594	CD 68 AAC>CAC [Asn>His]	Hb Jeddah	HBA1:c.205A>C	α1	Causative	α-chain variant	NG_000006.1	37901
597	CD 68 +GCGCTGACCAAC [+Ala-Leu-Thr-Asn]	Hb Esch	HBA1:c.207_208insGCGCTGACCAAC	α1	Causative	α-chain variant	NG_000006.1	37904
599	CD 70 GTG>ATG [Val>Met]	Hb Haaksbergen	HBA1:c.211G>A	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37907
4007	CD 70 GTG>TTG [Val>Leu] (g.494 (GenBank MK600512.1))	N/A	HBA1:c.211G>T	α1	Causative	α-thalassaemia	NG_000006.1	37907
385	CD 74/75 -GAC [- Asp]	N/A	HBA1:c.212_214delGAC	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37908
2358	CD 71 GCG>GTG [Ala>Val] (Hb Ozieri)	Hb Allison Park	HBA1:c.215C>T	α1	Causative	α-chain variant	NG_000006.1	37911
4008	CD 72 CAC>CA- (g.502 (GenBank: MK600512.1))	N/A	HBA1:c.219delC	α1	Causative	α-thalassaemia	NG_000006.1	37915
3312	CD 72 CAC>CAG [His>Gln]	Hb Madonie	HBA1:c.219C>G	α1	Causative	α-chain variant	NG_000006.1	37915
2996	CD 73 GTG>ATG [Val>Met]	Hb Argenteuil	HBA1:c.220G>A	α1	Causative	α-chain variant	NG_000006.1	37916
3326	CD 73 GTG>G-G	N/A	HBA1:c.221delT	α1	Causative	α-thalassaemia	NG_000006.1	37917
3759	CD 74 GAC>AAC [Asp>Asn]	Hb G-Pest	HBA1:c.223G>A	α1	Causative	α-chain variant	NG_000006.1	37919
3848	-α4.2-Q-Thailand	N/A	N/A	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37919
607	CD 74 GAC>CAC [Asp>His] (Hb Asabara, Hb G-Taichung, Hb Kurashiki-I, Hb Mahidol)	Hb Q-Thailand	HBA1:c.223G>C	α1	Causative	α-chain variant	NG_000006.1	37919
608	CD 74 GAC>GTC [Asp>Val]	Hb Les Lilas	HBA1:c.224A>T	α1	Causative	α-chain variant	NG_000006.1	37920
609	CD 74 GAC>GGC [Asp>Gly]	Hb Chapel Hill	HBA1:c.224A>G	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37920
3875	CD 74 GAC>GAG [Asp>Glu]	Hb Jishui	HBA1:c.225C>G	α1	Causative	α-chain variant	NG_000006.1	37921
3760	CD 75 GAC>AAC [Asp>Asn]	Hb Matsue-Oki	HBA1:c.226G>A	α1	Causative	α-chain variant	NG_000006.1	37922
2503	CD 75 GAC>TAC [Asp>Tyr]	Hb Winnipeg	HBA1:c.226G>T	α1	Causative	α-chain variant	NG_000006.1	37922
2485	CD 77 CCC>TCC [Pro>Ser]	Hb Nile	HBA1:c.232C>T	α1	Causative	α-chain variant	NG_000006.1	37928
2504	CD 77 CCC>CAC [Pro>His]	Hb Toulon	HBA1:c.233C>A	α1	Causative	α-chain variant	NG_000006.1	37929
625	CD 78 AAC>CAC [Asn>His]	Hb Davenport	HBA1:c.235A>C	α1	Causative	α-chain variant	NG_000006.1	37931
386	CD 78 -C	N/A	HBA1:c.237delC	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37933
2505	CD 78 AAC>AAG [Asn>Lys]	Hb Stanleyville-II	HBA1:c.237C>G	α1	Causative	α-chain variant	NG_000006.1	37933
3897	CD 78 AAC>AAA [Asn>Lys]	Hb Qinzhou	HBA1:c.237C>A	α1	Causative	α-chain variant	NG_000006.1	37933
4081	CD 79 GCG>GTG [Ala>Val]	Hb Tangshan	HBA1:c.239C>T	α1	Causative	α-chain variant	NG_000006.1	37935
2219	CD 81 -T	N/A	HBA2:c.244delT	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37940
632	CD 81 TCC>TGC [Ser>Cys]	Hb Nigeria	HBA1:c.245C>G	α1	Causative	α-chain variant	NG_000006.1	37941
387	CD 82-84 (-9 bp)	N/A	HBA1:c.247_255del	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37943
633	CD 82 GCC>ACC (Ala>Thr)	Hb Hagley Park	HBA1:c.247G>A	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37943
2281	CD 83 CTG>CGG [Leu>Arg]	Hb Ahvaz	HBA2: c.251T>G	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37947
637	CD 84 AGC>AGA [Ser>Arg]	Hb Etobicoke	HBA1:c.255C>A	α1	Causative	α-chain variant	NG_000006.1	37949
639	CD 85 GAC>AAC [Asp>Asn]	Hb G-Norfolk	HBA1:c.256G>A	α1	Causative	α-chain variant	NG_000006.1	37952
641	CD 85 GAC>CAC [Asp>His]	Hb Canuts	HBA1:c.256G>C	α1	Causative	α-chain variant	NG_000006.1	37952
2336	CD 86 CTG>GTG [Leu>Val]	N/A	HBA1:c.259C>G	α1	Causative	α-chain variant	NG_000006.1	37955
4098	CD 86 CTG>CCG [Leu>Pro]	Hb Thessaloniki	HBA1:c.260T>C	α1	Causative	α-chain variant	NG_000006.1	37956
2506	CD 87 CAC>TAC [His>Tyr] (Hb M-Kankakee , Hb M-Oldenburg , Hb M-Sendai)	Hb M-Iwate	HBA1:c.262C>T	α1	Causative	α-chain variant	NG_000006.1	37958
647	CD 87 CAC>GAC [His>Asp]	Hb Bonn	HBA1:c.262C>G	α1	Causative	α-chain variant	NG_000006.1	37958
649	CD 87 CAC>CCC [His>Pro]	Hb Grifton	HBA1:c.263A>C	α1	Causative	α-chain variant	NG_000006.1	37959
3861	CD 87 (-A)	N/A	HBA1:c.263delA	α1	Causative	α-thalassaemia	NG_000006.1	37959
3879	CD 87 CAC>CTC [His>Leu]	Hb Padma River	HBA1:c.263A>T	α1	Causative	α-chain variant	NG_000006.1	37959
3434	CD 87 CAC>CAG [His>Gln]	Hb Lansing-Ramathibodi	HBA1:c.264C>G	α1	Causative	α-chain variant	NG_000006.1	37960
658	CD 89 CAC>CAG [His>Gln]	Hb Buffalo	HBA1:c.270C>G	α1	Causative	α-chain variant	NG_000006.1	37966
3630	CD 90 AAG>CAG [Lys>Gln]	Hb Luocheng	HBA1:c.271A>C	α1	Causative	α-chain variant	NG_000006.1	37967
662	CD 90 AAG>AGG [Lys>Arg]	Hb Clinico Madrid II	HBA1:c.272A>G	α1	Causative	α-chain variant	NG_000006.1	37968
663	CD 90 AAG>ACG	Hb J-Rajappen	HBA1:c.272A>C	α1	Causative	α-chain variant	NG_000006.1	37968
3756	CD 90 AAG>AAC [Lys>Asn]	Hb J-Broussais	HBA1:c.273G>C	α1	Causative	α-chain variant	NG_000006.1	37969
3993	CD 90 AAG>AAT [Lys>Asn]	Hb Guigang	HBA1:c.273G>T	α1	Causative	α-chain variant	NG_000006.1	37969
665	CD 91 CTT>TTT [Leu>Phe] (Hb Grey Lynn)	Hb Vientiane	HBA1:c.274C>T	α1	Causative	α-chain variant	NG_000006.1	37970
668	CD 92 CGG>CAG [Arg>Gln]	Hb J-Cape Town	HBA1:c.278G>A	α1	Causative	α-chain variant	NG_000006.1	37973
390	CD 93-99 (+21 bp)	N/A	HBA1:c.280_300ins21	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37976
3852	CD 93 GTG>ATG [Val>Met]	Hb Qingcheng	HBA1:c.280G>A	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37976
672	CD 93 GTG>GCG [Val>Ala]	Hb Die	HBA1:c.281T>C	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37977
2507	CD 94 GAC>AAC [Asp>Asn]	Hb Titusville	HBA1:c.283G>A	α1	Causative	α-chain variant	NG_000006.1	37979
2539	IVS II-3 (+21bp)	Hb SKMC	HBA1:c.283_300+3dup	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37979
677	CD 94 GAC>GCC [Asp>Ala]	Hb Bassett	HBA1:c.284A>C	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37980
678	CD 94 GAC>GGC [Asp>Gly]	Hb Çapa	HBA1:c.284A>G	α1	Causative	α-chain variant	NG_000006.1	37980
681	CD 95 CCG>ACG [Pro>Thr]	Hb Godavari	NM_000558.3(HBA1):c.286C>A	α1	Causative	α-chain variant	NG_000006.1	37982
684	CD 95 CCG>CGG [Pro>Arg]	Hb St. Luke's	HBA1:c.287C>G	α1	Causative	α-chain variant	NG_000006.1	37983
685	CD 95 CCG>CAG [Pro>Gln]	Hb Wichita	HBA1:c.287C>A	α1	Causative	α-chain variant	NG_000006.1	37983
3718	CD 95 CCG>CTG [Pro>Leu]	Hb Georgia	HBA1:c.287C>T	α1	Causative	α-chain variant	NG_000006.1	37983
4093	CD 95 (-C)	Hb Campania	HBA1:c.287delC	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37983
2357	CD 96 GTC>CTC [Val>Leu]	Hb Woodstock	HBA1:c.289G>C	α1	Causative	α-chain variant	NG_000006.1	37985
3914	CD 97 AAC>AGC [Asn>Ser]	Hb Northwood	HBA1:c.293A>G	α1	Causative	α-chain variant	NG_000006.1	37989
690	CD 99 AAG>GAG [Lys>Glu] (Hb Turriff-I)	Hb Turriff	NM_000558.5(HBA1):c.298A>G	α1	Causative	α-chain variant	NG_000006.1	37994
2467	CD 99 AAG>TAG	N/A	HBA1:c.298A>T	α1	Causative	α-thalassaemia	NG_000006.1	37994
691	CD 99 AAG>AAT [Lys>Asn] (Hb Harlow)	Hb Beziers	HBA1:c.300G>T	α1	Causative	α-chain variant	NG_000006.1	37996
3031	IVS II-1 G>A	N/A	HBA1:c.300+1G>A	α1	Causative	α-thalassaemia	NG_000006.1	37997
3736	IVS II-55 G>T	N/A	HBA1:c.300+55G>T	α1	Causative	α-thalassaemia	NG_000006.1	38051
3737	IVS II-58 G>A	N/A	HBA1:c.300+58G>A	α1	Causative	α-thalassaemia	NG_000006.1	38054
4005	IVS II-96 G>C (g.679 (GenBank MK600512.1))	N/A	HBA1:c.300+96G>C	α1	Causative	α-thalassaemia	NG_000006.1	38092
4042	IVS II-2 (-8 bp, +1 bp)	N/A	HBA1:c.301-31_301-24delinsG	α1	Causative	α-thalassaemia	NG_000006.1	38115
3738	IVS II-141 T>C	N/A	HBA1:c.301-9T>C	α1	Causative	α-thalassaemia	NG_000006.1	38137
2222	IVS II-147 C>G	N/A	HBA1:c.301-3C>G	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	38143
393	IVS II-148 A>G consensus	N/A	HBA1:c.301-2A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	38144
2303	CD 100 CTC>TTC (Leu>Phe)	Hb Weesp	HBA1:c.301C>T	α1	Causative	α-chain variant	NG_000006.1	38146
2305	CD 100 CTC>CCC [Leu>Pro]	Hb Corsica	HBA1:c.302T>C	α1	Causative	α-chain variant	NG_000006.1	38147
2985	CD 102 AGC>CGC [Ser>Arg]	Hb Manitoba IV	HBA1:c.307A>C	α1	Causative	α-chain variant	NG_000006.1	38152
693	CD 102 AGC>AGA [Ser>Arg]	Hb Manitoba II	HBA1:c.309C>A	α1	Causative	α-chain variant	NG_000006.1	38154
695	CD 103 CAC>TAC [His>Tyr]	Hb Charolles	HBA1:c.310C>T	α1	Causative	α-chain variant	NG_000006.1	38155
2532	CD 103 CAC>GAC [His>Asp]	Hb Illinois	HBA1:c.310C>G	α1	Causative	α-chain variant	NG_000006.1	38155
395	CD 104 TGC>AGC [Cys>Ser]	Hb Oegstgeest	HBA1:c.313T>A	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38158
3956	CD 104 TGC>TAC [Cys>Tyr]	Hb Sallanches	HBA1:c.314G>A	α1	Causative	α-chain variant	NG_000006.1	38159
2340	CD 104 TGC>TGG [Cys>Trp]	Hb Donnington	HBA1:c.315C>G	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38160
701	CD 106 CTG>CCG [Leu>Pro]	Hb Charlieu	HBA1:c.320T>C	α1	Causative	α-chain variant	NG_000006.1	38165
2315	CD 110 GCC>GTC [Ala>Val] (Hb White Rose)	Hb Montluel	HBA1:c.332C>T	α1	Causative	α-chain variant	NG_000006.1	38177
2224	CD 110-114 (-13 bp)	N/A	HBA1:c.333_345delCGCCCACCTCCCC	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	38178
708	CD 112 CAC>GAC [His>Asp]	Hb Hopkins-II	NM_000558.5(HBA1):c.337C>G	α1	Causative	α-chain variant	NG_000006.1	38182
2377	CD 112 CAC>CAA [His>Gln]	Hb West Allis	HBA1:c.339C>A	α1	Causative	α-chain variant	NG_000006.1	38184
2316	CD 114 CCC>GCC [Pro>Ala]	Hb Broomhill	NM_000558.5(HBA1):c.343C>G	α1	Causative	α-chain variant	NG_000006.1	38188
715	CD 114 CCC>CTC [Pro>Leu]	Hb Nouakchott	NM_000558.3(HBA1):c.344C>T	α1	Causative	α-chain variant	NG_000006.1	38189
3378	CD 114 CCC>CAC [Pro>His]	Hb Hubei	HBA1:c.344C>A	α1	Causative	α-chain variant	NG_000006.1	38189
2322	CD 115 GCC>GTC [Ala>Val]	Hb Palmela	HBA1:c.347C>T	α1	Causative	α-chain variant	NG_000006.1	38192
720	CD 116 GAG>AAG [Glu>Lys] (Hb Buginese-X, Hb Oliviere)	Hb O-Indonesia	HBA1:c.349G>A	α1	Causative	α-chain variant	NG_000006.1	38194
723	CD 118-119 +9 bp [+Glu-Phe-Thr] (Hb Dakar)	Hb Grady	HBA1:c.349_357dup	α1	Causative	α-chain variant	NG_000006.1	38194
3864	CD 116 GAG>TAG [Glu>Stop]	N/A	HBA1:c.349G>T	α1	Causative	α-thalassaemia	NG_000006.1	38194
719	CD 116 GAG>GCG [Glu>Ala]	Hb Ube-4	HBA1:c.350A>C	α1	Causative	α-chain variant	NG_000006.1	38195
724	CD 117/118 +ATC [+Ile]	Hb Phnom Penh	HBA1:c.354_355insATC	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38199
3036	CD 117/118 +TCA [+Ser]	Hb Wexham	HBA1:c.354_355insTCA	α1	Causative	α-chain variant	NG_000006.1	38199
406	CD 119 CCT>TCT [Pro>Ser] (Hb Bemalda P, Hb Bernalda)	Hb Groene Hart	HBA1:c.358C>T	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38203
726	CD 119 CCT>CTT [Pro>Leu]	Hb Diamant	HBA1:c.359C>T	α1	Causative	α-chain variant	NG_000006.1	38204
2508	CD 120 GCG>GAG [Ala>Glu] (Hb J-Birmingham)	Hb J-Meerut	HBA1:c.362C>A	α1	Causative	α-chain variant	NG_000006.1	38207
728	CD 121 GTG>ATG [Val>Met]	Hb Owari	HBA1:c.364G>A	α1	Causative	α-chain variant	NG_000006.1	38209
729	CD 122 CAC>TAC [His>Tyr]	Hb Yanase	HBA1:c.367C>T	α1	Causative	α-chain variant	NG_000006.1	38212
3751	CD 122 CAC>GAC [His>Asp]	Hb Daxin	HBA1:c.367C>G	α1	Causative	α-chain variant	NG_000006.1	38212
407	CD 123 GCC >CCC [Ala>Pro]	Hb Voreppe	HBA1:c.370G>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38215
733	CD 123 GCC>TCC [Ala>Ser]	Hb Mulhacen	HBA1:c.370G>T	α1	Causative	α-chain variant	NG_000006.1	38215
3016	CD 123 GCC>GTC [Ala>Val]	Hb Louisa	HBA1:c.371C>T	α1	Causative	α-chain variant	NG_000006.1	38216
2984	CD124 TCC>TGC [Ser>Cys]	Hb Harehills	HBA1:c.374C>G	α1	Causative	α-chain variant	NG_000006.1	38219
2414	CD 125 CTG>CCG [Leu>Pro]	Hb Quong Sze II	HBA1:c.377T>C	α1	Causative	α-chain variant	NG_000006.1	38222
738	CD 126 GAC>CAC [Asp>His]	Hb Sassari	HBA1:c.379G>C	α1	Causative	α-chain variant	NG_000006.1	38224
739	CD 126 GAC>TΑC [Asp>Tyr]	Hb Montefiore	HBA1:c.379G>T	α1, α1 or α2	Causative	α-chain variant	NG_000006.1	38224
2408	CD 126 GAC>GCC [Asp>Ala]	Hb Verdun	HBA1:c.380A>C	α1	Causative	α-chain variant	NG_000006.1	38225
743	CD 126 GAC>GAG [Asp>Glu]	Hb Burlington	HBA1:c.381C>G	α1	Causative	α-chain variant	NG_000006.1	38226
3380	CD 127 AAG>GAG [Lys>Glu]	Hb Shantou	HBA1:c.382A>G	α1	Causative	α-chain variant	NG_000006.1	38227
3789	CD 127 AAG>CAG [Lys>Gln]	Hb Waikato	HBA1:c.382A>C	α1	Causative	α-chain variant	NG_000006.1	38227
411	CD 129 CTG>CCG [Leu>Pro]	Hb Tunis-Bizerte	NM_000558.3(HBA1):c.389T>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38234
749	CD 130 GCT>GTT [Ala>Val]	Hb Westborough	HBA1:c.392C>T	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	38237
3281	CD 130 (+T)	Hb Sichuan	HBA1:c.393_394insT	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38238
752	CD 131 TCT>TTT	Hb Lusaka	HBA1:c.395C>T	α1	Causative	α-chain variant	NG_000006.1	38240
416	CD 131 (+T) >175aa	Hb Pak Num Po	HBA1:c.396dup	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38241
753	CD 131 TCT>TC-	Hb Fez	HBA1:c.396delT	α1	Causative	α-chain variant	NG_000006.1	38241
2323	CD 132 GTG>ATG [Val>Met]	Hb Portimão	HBA1:c.397G>A	α1	Causative	α-chain variant	NG_000006.1	38242
3723	CD 132 GTG>GCG [Val>Ala]	N/A	HBA1:c.398T>C	α1	Causative	α-chain variant	NG_000006.1	38243
4027	CD 133 AGC>CGC [Ser>Arg]	Hb Val de Marne	HBA2:c.400A>C	α2	Causative	α-chain variant	NG_000006.1	38245
4084	CD 133-135 (-7 bp, -GCACCGT)	N/A	HBA1:c.401_407del	α1	Causative	α-thalassaemia	NG_000006.1	38246
760	CD 134 -C	Hb Senlis	HBA1:c.404delC	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	38249
762	CD 135 GTG>CTG [Val>Met]	Hb Trenton	HBA1:c.406G>A	α1	Causative	α-chain variant	NG_000006.1	38251
763	CD 135 GTG>ATG [Val>Glu]	Hb Pavie	HBA1:c.407T>A \| HBA2:c.407T>A	α1 or α2	Causative	α-chain variant	NG_000006.1	38252
3724	CD 136 CTG>CAG [Leu>Gln]	N/A	HBA1:c.410T>A	α1	Causative	α-chain variant	NG_000006.1	38255
767	CD 137 ACC>CCC [Thr>Pro]	Hb Verona	HBA1:c.412A>C	α1	Causative	α-chain variant	NG_000006.1	38257
3802	CD 138 TCC>GCC [Ser>Ala]	Hb Paynesville	HBA1:c.415T>G	α1	Causative	α-chain variant	NG_000006.1	38260
769	CD 138 TCC>TGC [Ser>Cys]	Hb Ecuador	HBA1:c.416C>G	α1	Causative	α-chain variant	NG_000006.1	38261
771	CD 139 AAA>GAA [Ala>Glu]	Hb Hanamaki-1	HBA1:c.418A>G	α1	Causative	α-chain variant	NG_000006.1	38263
4017	CD 139 AAA>TAA [Lys>STOP] (Tenerife)	Hb Nivaria	HBA1:c.418A>T	α1	Causative	α-chain variant	NG_000006.1	38263
773	CD 139 AAA>ACA [Lys>Thr]	Hb Tokoname	NM_000558.5(HBA1):c.419A>C	α1	Causative	α-chain variant	NG_000006.1	38264
776	CD 140 TAC>CAC [Tyr>His]	Hb Ethiopia	NM_000558.5(HBA1):c.421T>C	α1	Causative	α-chain variant	NG_000006.1	38266
3972	CD 140 TAC>TAA [Tyr>STOP]	Hb Natal	HBA1:c.423C>A	α1	Causative	α-chain variant	NG_000006.1	38268
779	CD 141 CGT>GGT [Arg>Gly]	Hb J-Camagüey	NM_000558.3(HBA1):c.424C>G	α1	Causative	α-chain variant	NG_000006.1	38269
782	CD 141 CGT>CTT [Arg>Leu]	Hb Legnano	HBA1:c.425G>T	α1	Causative	α-chain variant	NG_000006.1	38270
783	CD 141 CGT>CAT [Arg>His]	Hb Suresnes	NM_000558.3(HBA1):c.425G>A	α1	Causative	α-chain variant	NG_000006.1	38270
3302	3'UTR +46 C>A	N/A	HBA1:c.*46C>A	α1	Causative	α-thalassaemia	NG_000006.1	38320
2225	Poly A (G>A) AATAAAG>AATAAAA	N/A	HBA1:c.*96G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	38370
3739	TTS +23 (+T)	N/A	HBA1:c.134_135insT	α1	Causative	α-thalassaemia	NG_000006.1	38408
3890	CD 18 GGC>TGC [Gly>Cys]	Hb Jiujiang	HBA2:c.55G>T	α2	Causative	α-chain variant	NG_000006.1	172967
3393	3.5 kb deletion (Thai, 3485 bp deletion)	N/A	NC_000011.10:g.5224302_5227791del3490bp	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3
3435	Gγ-Atlanta HPFH (Atlanta type of HPFH, Atlanta non-deletional HPFH)	N/A	N/A	Gγ	Causative	HPFH, Hb F levels	NG_000007.3
3436	Yugoslavian non-deletional HPFH	N/A	N/A	Aγ, Gγ	Causative	HPFH, Hb F levels	NG_000007.3
3570	1.78Mb εγδβ(0) del (Bedouin)	N/A	NC_000011.10:g.(4302665_4322227)_(6099443_6100105)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3
3578	2.2 Mb deletion	N/A	NC_000011.10:g.4052720_6253287del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3
3606	177 Kb deletion	N/A	NC_000011.10:g.5241050_5418009del	βLCR, ε, Aγ, Gγ, pseudo β, OR51B5, OR51B6, OR51M1, OR51B2	Causative	εγδβ-thalassaemia	NG_000007.3
3955	Siriraj I Gγ(Aγδβ)0 (~118 kb del)	N/A	N/A	Aγ, δ, β	Causative	δβ-thalassaemia	NG_000007.3
1400		Hb Lepore-Leiden	N/A	δ, β	Causative	δβ-thalassaemia	NG_000007.3
1404	(Hb Anti-Lepore Hong Kong)	Hb Hong Kong	NG_000007.3:g.63160_70572dup	δ, β	Causative	δ-chain variant	NG_000007.3
1405	(Hb Anti-Lepore P-Nilotic)	Hb P-Nilotic	NG_000007.3:g.63461_70874dup	δ, β	Causative	δ-chain variant	NG_000007.3
1525	Belgian (Aγδβ)0	N/A	NC_000011.10:g.(5200077_5215844)_(5249806_5251160)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3
1540	Hispanic (εγδβ)0	N/A	NC_000011.10:g.5279573_5319355del	βLCR	Causative	εγδβ-thalassaemia	NG_000007.3
1542	Dutch I (εγδβ)0	N/A	NC_000011.10:g.5229432_5329263del	βLCR, ε, Aγ, Gγ, δ, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3
1549	Dutch IV	N/A	NC_000011.10:g.(5245669_5248365)_(5440251_5470849)del	βLCR, ε, Aγ, Gγ, OR51B5, OR51B6	Causative	εγδβ-thalassaemia	NG_000007.3
1550	Dutch V	N/A	NC_000011.10:g.(5269965_5275919)_(5409809_5430375)del	βLCR, OR51B5, OR51B6, OR51M1, OR51B2, OR51B4	Causative	εγδβ-thalassaemia	NG_000007.3
2159	(εγδβ)0 with α triplication	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3
2418	Swiss (εγδβ)0	N/A	NC_000011.10:g.(4002734_4002784)_ (6907712_6907762)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3
2548	Inv-Del English V	N/A	NC_000011.10:g.5194460_5253454invdel5194460_5194542del5253454_5375965	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3
1502	Italian 1 (HPFH-4)	N/A	N/A	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	0
1503	Italian 2, Sicilian (HPFH-5)	N/A	NC_000011.10:g.59893_72818del	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	0
1511	East European (δβ)0	N/A	NG_000007.3:g.61566_70708del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	0
1514	Macedonian/Turkish (δβ)0 (Turkish type 2 (δβ)0 \| Turkish Inv/Del (δβ)0)	N/A	N/A	δ, β	Causative	δβ-thalassaemia	NG_000007.3	0
1515	Turkish (δβ)0 (Turkish type 3 (δβ)0)	N/A	N/A	δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1516	Leiden 7.4 kb (δβ)0	N/A	NG_000007.3:g.(59658_64667)_(72019_81668)del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	0
1517	Thai 11.3 (δβ)0	N/A	NG_000007.3:g.60045_71313delinsTACATTAAGAGATACCTTAATG	δ, β	Causative	δβ-thalassaemia, Hb F levels	NG_000007.3	0
1518	Japanese 2 (δβ)0	N/A	NG_000007.3:g.52036_78987del	δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1519	Indian (Aγδβ)0 (inv) (Asian-Indian Inv/Del Gγ(Aγδβ)0)	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1521	Cantonese (Aγδβ)0	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1522	Malaysian-1 (Aγδβ)0	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1528	Yunnanese (Aγδβ)0	N/A	NC_000011.10:g.5182845_5249973del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1531	Canadian (Aγδβ)0	N/A	NC_000011.10:g.5196589_5251715delinsTA	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1532	Leiden 69.5	N/A	NC_000011.10:g.(5167906_5178684)_(5248184_5251232)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1533	49.3 kb Gγ(Aγδβ)0 Asian del	N/A	NC_000011.10:g.5201244_5250542del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1534	Anglo-Saxon (εγδβ)0	N/A	NC_000011.8:g.5204501_5300223del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1535	Irish (εγδβ)0	N/A	NC_000011.8:g.5110112_5312961del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1536	Canadian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1537	Scottish - Irish	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1538	English I (εγδβ)0	N/A	N/A	βLCR, ε, Gγ	Causative	εγδβ-thalassaemia	NG_000007.3	0
1539	Mexican (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1541	Croatian (εγδβ)0	N/A	NC_000011.10:g.(5151491_5158092)_(5285862_5295096)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1543	English II	N/A	NC_000011.10:g.5262849_5360616del	βLCR, ε	Causative	εγδβ-thalassaemia	NG_000007.3	0
1544	English III	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1545	English IV	N/A	NC_000011.10:g.5156866_5595894del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1546	Chilean	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1547	Dutch II	N/A	NC_000011.10:g.(?_4999945)_(5409809_5430440)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B5, OR51M1	Causative	εγδβ-thalassaemia	NG_000007.3	0
1548	Dutch III	N/A	NC_000011.10:g.5248950_5360936delinsGGGAGACTGATATA	βLCR, ε, Aγ, Gγ	Causative	εγδβ-thalassaemia	NG_000007.3	0
1551	Dutch VI	N/A	NC_000011.10:g.(?_5227218)_(5373082_5382848)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1552	Japanese	N/A	NC_000011.10:g.4600605_6019332delinsCACTTGGTTATGATGTATT	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1553	French	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
2123	7719 bp deletion	N/A	NG_000007.3:g.71550_79270del7719	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	0
2158	Pakistani I	N/A	NC_000011.10:g.5194461_5700474delins[250inv]	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
2161	French (εγδβ)0 insertion/deletion	N/A	NG_000007.3:g.7751_18905delins[13569_13579inv;13364_13549inv]	βLCR	Causative	εγδβ-thalassaemia	NG_000007.3	0
2163	Norwegian (εγδβ)0	N/A	NC_000011.10:g.5228098_5358569del	βLCR, ε, Aγ, Gγ, δ, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
2167	Asian Indian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
2378	CD 6 GAG>CAG [Glu>Gln]	Hb A2-Ramallah	HBD:c.19G>C	δ	Causative	δ-chain variant	NG_000007.3	0
2419	Senegalese δ(0)β(+)	N/A	NG_000007.3:g.(63154_63209)_(70570_70625)del7417	δ, β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	0
2497	49.98 kb (δβ)0 Indian del (HPFH-9)	N/A	NC_000011.10:g.5194285_5244267del	δ, β, pseudo β	Causative	HPFH, Hb F levels	NG_000007.3	0
2498	86.7 kb (Αγδβ)0 Indian del (HPFH-10)	N/A	NC_000011.10:g.5164124_5250830delinsTG	Aγ, δ, β, pseudo β	Causative	HPFH, Hb F levels	NG_000007.3	0
2551	Austrian I	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
3073	Italian (εγδβ)0 deletion	N/A	NC_000011.10:g.[5194397_5357192del;5194356_5194401insAGCTAAAGGTTTTGTAAATGCACCAATCAGCAATCTGTGTCTAACTC]	ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
291	Czech (4237 bp deletion)	N/A	NG_000007.3:g.67258_71501del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	0
293	Cape Verdean	N/A	NG_000007.3:g.71548_79271del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	0
294	Asian Indian (10329 bp deletion)	N/A	NG_000007.3:g.(67531_67533)_(77874_77876)del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	0
295	Australian (Anglo Saxon) (12023 bp deletion)	N/A	NC_000011.10:g.5215894_5227926del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	0
299	Italian (~67 kb deletion)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	0
3340	Brazilian (εγδβ)0	N/A	NC_000011.10:g.(5106498_5151836)_(5324046_5390135)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B2	Causative	εγδβ-thalassaemia	NG_000007.3	0
3390	βδβ hybrid	Hb Palencia	N/A	δ, β	Causative	β-chain variant	NG_000007.3	0
3577	59 Kb deletion	N/A	NC_000011.10:g.5236469_5295261del	βLCR, ε, Aγ, Gγ	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3	2355
3935	12.4 kb Mediterranean deletion	N/A	NG_000007.3:g.2798_15161delinsAGAGCCCT	βLCR	Causative	β-thalassaemia	NG_000007.3	2798
2165	Puerto Rican (εγδβ)0	N/A	NG_000007.3:g.2904_25432del	βLCR	Causative	εγδβ-thalassaemia	NG_000007.3	2904
3483	CD 121 GAA>-AA	Hb Mahasarakham	HBB:c.364delG	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	6394
2566	Caribbean	N/A	NG_000007.3:g.8510_13369del	βLCR	Causative	β-thalassaemia	NG_000007.3	8510
3849	~72 kb εγδβ(0) del	N/A	NC_000011.10:g.(5200032_5215881)_(5288356_5295076)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	9260
2164	Tennessean (εγδβ)0	N/A	NG_000007.3:g.10054_21931del	βLCR	Causative	εγδβ-thalassaemia	NG_000007.3	10054
2479	Toledo (1992 bp deletion)	N/A	NG_000007.3:g.11835_13826del	βLCR	Causative	β-thalassaemia	NG_000007.3	11835
3270	Chinese I (εγδβ)0	N/A	NC_000011.10:g.5036736_5270337del	ε, Aγ, Gγ, δ, β, pseudo β, OR51V1	Causative	εγδβ-thalassaemia	NG_000007.3	27279
3868	>35.3 Kb deletion	N/A	NG_000007.3:g.(21655_27675)_(63032_64586)del	ε, Aγ, Gγ, δ, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	27675
3869	>29.5 Kb duplication	N/A	NG_000007.3:g.(27675_41485)_(71150_72080)dup	Aγ, Gγ, δ, β, pseudo β	Causative	β-thalassaemia	NG_000007.3	41485
1554	-567 T>G (Iranian non-deletional HPFH)	N/A	HBG2:c.-620T>G	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42268
3272	-533 (-ATAAG)	N/A	HBG2:c.-533_-529delATAAG	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42302
1555	-202 C>G (Black non-deletional HPFH)	N/A	HBG2:c.-255C>G	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42633
3943	-200 (+CC)	N/A	HBG2:c.-253_-254dup	Gγ	Causative	HPFH	NG_000007.3	42634
1556	-200 +C (Tunisian non-deletional HPFH)	N/A	HBG2:c.-253dup	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42635
2300	-197 C>T	N/A	HBG2:c.-250c>T	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42638
1557	-196 C>T (Greek non-deletional HPFH)	N/A	HBG2:c.-249C>T	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42639
1558	-175 T>C (Black/Sardinian/British non-deletional HPFH)	N/A	HBG2:c.-228T>C	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42660
3790	-125 C>T	N/A	HBG2:c.-177C>T	Gγ	Causative	HPFH	NG_000007.3	42710
1559	-114 C>G (Australian non-deletional HPFH)	N/A	HBG2:c.-167C>G	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42721
1560	-114 C>A (Algerian non-deletional HPFH)	N/A	HBG2:c.-167C>A	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42721
1561	-114 C>T (Japanese non-deletional HPFH)	N/A	HBG2:c.-167C>T	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42721
1562	-110 A>C (Czech non-deletional HPFH)	N/A	HBG2:c.-163A>C	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42725
1563	-109 G>T (Greek non-deletional HPFH)	N/A	HBG2:c.-162A>C	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42726
1564	-37 A>T (Belgian non-deletional HPFH)	N/A	HBG2:c.-90A>T	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42798
1406	CD 1 GGT>TGT	Hb F-Malaysia	HBG2:c.4G>T	Gγ	Causative	γ-chain variant	NG_000007.3	42891
2449	CD 1 GGT>AGT [Gly>Ser]	Hb F-Montchat	HBG2:c.4G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42891
3319	CD 1 GGT>GAT [Gly>Asp]	Hb F-Hayward	HBG2:c.5G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42892
1407	CD 5 GAG>GGG	Hb F-Meinohama	HBG2:c.17A>G	Gγ	Causative	γ-chain variant	NG_000007.3	42904
1409	CD 7 GAC>AAC	Hb F-Auckland	HBG2:c.22G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42909
1410	CD 8 AAG>CAG or GAG	Hb F-Albaicin	HBG2:c.25A>C \| HBG2:c.25A>G	Gγ	Causative	γ-chain variant	NG_000007.3	42912
1412	CD 12 ACA>AGA [Thr>Arg]	Hb F-Heather	HBG2:c.38C>G	Gγ	Causative	γ-chain variant	NG_000007.3	42925
3804	CD 13 AGC>AGA [Ser>Arg]	Hb F-Millennium Park	HBG2:c.42C>A	Gγ	Causative	γ-chain variant	NG_000007.3	42929
1413	CD 15 TGG>CGG	Hb F-Catalonia	HBG2:c.46T>C	Gγ	Causative	γ-chain variant	NG_000007.3	42933
1414	CD 16 GGC>CGC	Hb F-Melbourne	HBG2:c.49G>C	Gγ	Causative	γ-chain variant	NG_000007.3	42936
1415	CD 17 AAG>AAC or AAT	Hb F-Clamart	HBG2:c.54G>C \| HBG2:c.54G>T	Gγ	Causative	γ-chain variant	NG_000007.3	42941
2149	N/A (Hb Gγ-β Ulsan)	Hb Ulsan	NG_000007.3:g.42946_70654del	Aγ, Gγ, δ, β, pseudo β	Causative	β-chain variant	NG_000007.3	42946
1416	CD 19 AAT>AAA or AAG	Hb F-Ouled Rabah	HBG2:c.60T>A \| HBG2:c.60T>G	Gγ	Causative	γ-chain variant	NG_000007.3	42947
1417	CD 20 GTG>GCG	Hb F-Bron	HBG2:c.62T>C	Gγ	Causative	γ-chain variant	NG_000007.3	42949
1418	CD 21 GAA>AAA	Hb F-Saskatoon	HBG2:c.64G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42951
1419	CD 21 GAA>CAA	Hb F-Fuchu	HBG2:c.64G>C	Gγ	Causative	γ-chain variant	NG_000007.3	42951
4099	CD 22 GAT>CAT [Asp>His]	Hb F-Nancy	HBG2:c.67G>C	Gγ	Causative	γ-chain variant	NG_000007.3	42954
1420	CD 22 GAT>GTT	Hb F-Granada	HBG2:c.68A>T	Gγ	Causative	γ-chain variant	NG_000007.3	42955
1421	CD 22 GAT>GGT	Hb F-Urumqi	HBG2:c.68A>G	Gγ	Causative	γ-chain variant	NG_000007.3	42955
3566	CD 24 GGA>GAA [Gly>Glu]	Hb F-Wentzville	HBG2:c.74G>A	Gγ	Causative	γ-chain variant, Haemolytic anaemia	NG_000007.3	42961
1422	CD 25 GGA>GAA	Hb F-Cosenza	HBG2:c.77G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42964
1423	CD 26 GAA>AAA	Hb F-Oakland	HBG2:c.79G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42966
3322	CD 28 CTG>ATG [Leu>Met]	Hb F-M Viseu	HBG2:c.85C>A	Gγ	Causative	γ-chain variant	NG_000007.3	42972
1424	CD 34 GTC>ATC	Hb F-Tokyo	HBG2:c.103G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43112
2428	CD 37 TGG>GGG [Trp>Gly]	Hb F-Cobb II	HBG2:c.112T>G	Gγ	Causative	γ-chain variant	NG_000007.3	43121
1425	CD 38 ACC>CCC	Hb F-Bonheiden	HBG2:c.115A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43124
1426	CD 40 AGG>GGG	Hb F-Veleta	HBG2:c.121A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43130
1427	CD 40 AGG>AAG	Hb F-Austell	HBG2:c.122G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43131
2427	CD 41 TTC>CTC [Phe>Leu]	Hb F-Avellino	HBG2:c.124T>C	Gγ	Causative	γ-chain variant, Hb F levels	NG_000007.3	43133
1428	CD 41 TTC>TCC	Hb F-Cincinnati	HBG2:c.125T>C	Gγ	Causative	γ-chain variant	NG_000007.3	43134
1429	CD 44 AGC>CGC	Hb F-Lodz	HBG2:c.133A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43142
3608	CD 50 (TCT>TGT);CD 75(ATA>ACA)	Hb F-Madrid	HBG2:c.[152C>G;227T>C]	Gγ	Causative	γ-chain variant	NG_000007.3	43161
1430	CD 55 ATG>AGG	Hb F-Kingston	HBG2:c.167T>G	Gγ	Causative	γ-chain variant	NG_000007.3	43176
1431	CD 59 AAA>CAA	Hb F-Sacromonte	HBG2:c.178A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43187
1432	CD 59 AAA>GAA	Hb F-Emirates	HBG2:c.178A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43187
2552	CD 59 AAA>AGA [Lys>Arg]	Hb F-Augusta GA	HBG2:c.179A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43188
1433	CD 63 CAT>TAT	Hb F-M-Osaka	HBG2:c.190C>T	Gγ	Causative	γ-chain variant	NG_000007.3	43199
3369	CD 63 CAT>CTT [His>Leu]	Hb F-Circleville	HBG2:c.191A>T	Gγ	Causative	γ-chain variant	NG_000007.3	43200
2471	CD 64 GGC>GAC [Gly>Asp]	Hb F-Turritana	HBG2:c.194G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43203
1434	CD 65 AAG>AAT or AAC	Hb F-Clarke	HBG2:c.198G>C \| HBG2:c.198G>T	Gγ	Causative	γ-chain variant	NG_000007.3	43207
1435	CD 66 AAG>CAG	Hb F-Brooklyn	HBG2:c.199A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43208
1436	CD 66 AAG>AGG	Hb F-Shanghai	HBG2:c.200A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43209
2435	CD 67 GTG>ATG [Val>Met] (Hb F-Heuried)	Hb Toms River	HBG2:c.202G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43211
1437	CD 72 GGA>CGA	Hb F-Minoo	HBG2:c.217G>C	Gγ	Causative	γ-chain variant	NG_000007.3	43226
1438	CD 73 GAT>GCT	Hb F-Joanopolis	HBG2:c.221A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43230
1439	CD 75 ATA>GTA	Hb F-Coigneres	HBG2:c.226A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43235
1440	CD 75 ATA>ACA	Hb F-Lesvos	HBG2:c.227T>C	Gγ	Causative	γ-chain variant	NG_000007.3	43236
1441	CD 77 CAC>CGC	Hb F-Kennestone	HBG2:c.233A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43242
1442	CD 79 GAT>CAT [Asp>His]	Hb F-Saint-Etienne	HBG2:c.238G>C	Gγ	Causative	γ-chain variant	NG_000007.3	43247
3803	CD 79 GAT>GGT [Asp>Gly]	Hb F-Northerly Island	HBG2:c.239A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43248
1443	CD 80 GAT>AAT	Hb F-Marietta	HBG2:c.241G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43250
1444	CD 80 GAT>TAT [Asp>Tyr]	Hb F-Paulinia	HBG2:c.241G>T	Gγ	Causative	γ-chain variant	NG_000007.3	43250
3389	CD 89 AGT>AAT [Ser>Asn]	Hb F-Careggi	HBG2:c.269G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43278
1445	CD 92 CAC>TAC	Hb F-M-Fort Ripley	HBG2:c.277C>T	Gγ	Causative	γ-chain variant	NG_000007.3	43286
2395	CD 93 TGT>CGT [Cys>Arg]	Hb F-Monserrato-Sassari	HBG2:c.280T>C	Gγ	Causative	γ-chain variant	NG_000007.3	43289
1446	CD 94 GAC>AAC	Hb F-Columbus-GA	HBG2:c.283G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43292
1447	CD 97 CAT>CGT [His>Arg]	Hb F-Lyon	HBG2:c.293A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43302
1448	CD 101 GAG>CAG [Glu>Gln]	Hb F-Zheijang	HBG2:c.304G>C	Gγ	Causative	γ-chain variant	NG_000007.3	43313
1449	CD 101 GAG>AAG	Hb F-La Grange	HBG2:c.304G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43313
1450	CD 102 AAC>ACC [Asn>Thr]	Hb F-Sarajevo	HBG2:c.308A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43317
1451	CD 104 AAG>AAC	Hb F-Macedonia-II	HBG2:c.315G>C	Gγ	Causative	γ-chain variant	NG_000007.3	43324
2459	CD 105 CTC>CAC [Leu>His]	Hb F-Brugine/Feldkirch	HBG2:c.317T>A	Gγ	Causative	γ-chain variant	NG_000007.3	43326
3835	78.9 kb Gγ(Aγδβ)0 del	N/A	NC_000011.10:g.5169895_5248821delins5216274_5216309	Aγ, δ, β, pseudo β, OR52Z1-OR51V1	Causative	δβ-thalassaemia	NG_000007.3	43875
1452	CD 108 AAT>AAA [Asn>Lys]	Hb F-Ube	HBG1:c.327T>A \| HBG2:c.327T>A	Aγ or Gγ	Causative	γ-chain variant	NG_000007.3	44222, 49140
1453	CD 117 CAT>CGT	Hb F-Malta-I	HBG2:c.353A>G	Gγ	Causative	γ-chain variant	NG_000007.3	44248
1454	CD 118 TTC>CTC	Hb F-Calabria	HBG2:c.355T>C	Gγ	Causative	γ-chain variant	NG_000007.3	44250
3891	CD 119 GGC>CGC [Gly>Arg]	Hb F-Pill Hill	HBG2:c.358G>C	Gγ	Causative	γ-chain variant	NG_000007.3	44253
1455	CD 120 AAA>CAA	Hb F-Caltech	HBG2:c.361A>C	Gγ	Causative	γ-chain variant	NG_000007.3	44256
1456	CD 121 GAA>AAA	Hb F-Carlton	HBG2:c.364G>A	Gγ	Causative	γ-chain variant	NG_000007.3	44259
1457	CD 125 GAG>GCG	Hb F-Port Royal	HBG2:c.377A>C	Gγ	Causative	γ-chain variant	NG_000007.3	44272
1458	CD 130 TGG>GGG	Hb F-Poole	HBG2:c.391T>G	Gγ	Causative	γ-chain variant	NG_000007.3	44286
2450	CD 136 GGA>GAA [Gly>Glu]	Hb F-Privas	HBG2:c.410G>A	Gγ	Causative	γ-chain variant	NG_000007.3	44305
3950	CD 140 GCC>GAC [Ala>Asp]	Hb F-Wyandotte	HBG2:c.422C>A	Gγ	Causative	γ-chain variant	NG_000007.3	44317
1459	CD 146 CAC>TAC	Hb F-Onoda	HBG2:c.439C>T	Gγ	Causative	γ-chain variant	NG_000007.3	44334
2394	CD 146 CAC>CGC [His>Arg]	Hb F-Istambul	HBG2:c.440A>G	Gγ	Causative	γ-chain variant	NG_000007.3	44335
1524	Turkish (Aγδβ)0	N/A	NG_000007.3:g.45410_81665del36256	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	45410
1504	SE Asian, Thai (Aγδβ)0 (HPFH-6)	N/A	NC_000011.10:g.5172745_5252029	Aγ, δ, β, pseudo β, OR51V1, OR52Z1-OR51V1	Causative	δβ-thalassaemia, Hb F levels	NG_000007.3	45587
1520	German (Aγδβ)0	N/A	NC_000011.10:g.(5197976_ 5198976)_(5251297_5251694)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	45922
1523	Malaysian-2 (Aγδβ)0	N/A	NC_000011.10:g.(5207467_5208467)_(5250061_5250240)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	47376
3920	-368 C>A	N/A	HBG1:c.-420C>A	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47391
3865	-219 (+AGCA)	N/A	HBG1:c.-272_-275dup	Aγ	Causative	HPFH	NG_000007.3	47537
1565	-211 C>T (Venezuelan non-deletional HPFH)	N/A	HBG1:c.-264C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47548
1566	-202 C>T (Black non-deletional HPFH)	N/A	HBG1:c.-255C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47557
1567	-201 C>T (Greek non-deletional HPFH)	N/A	HBG1:c.-254C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47558
1568	-198 T>C (British non-deletional HPFH)	N/A	HBG1:c.-251T>C	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47561
2301	-197 C>T	N/A	HBG1:c.-250C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47562
1569	-196 C>T (Italian/Chinese non-deletional HPFH)	N/A	HBG1:c.-249C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47563
1570	-195 C>G (Brazilian non-deletional HPFH)	N/A	HBG1:c.-248C>G	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47564
1571	-175 T>C (Black non-deletional HPFH)	N/A	HBG1:c.-228T>C	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47584
1572	-158 C>T (Cretan non-deletional HPFH)	N/A	HBG1:c.-211C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47601
1573	-117 G>A (Greek/Italian/Black non-deletional HPFH)	N/A	HBG1:c.-170G>A	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47642
1574	-114 to -102 (13 bp deletion , Black non-deletional HPFH)	N/A	HBG1:c.-167_-155delCAATAGCCTTGAC	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47645
1575	-114 C>T (Georgian non-deletional HPFH)	N/A	HBG1:c.-167C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47645
3025	-114 C>G (African-American/Hispanic non-deletional HPFH)	N/A	HBG1:c.-167C>G	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47645
2302	-113 A>G	N/A	HBG1:c.-166A>G	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47646
1460	CD 2 CAT>CAG	Hb F-Macedonia-I	HBG1:c.9T>G	Aγ	Causative	γ-chain variant	NG_000007.3	47820
1461	CD 5 GAG>AAG	Hb F-Texas-I	HBG1:c.16G>A	Aγ	Causative	γ-chain variant	NG_000007.3	47827
1408	CD 6 GAG>AAG	Hb F-Texas-II	HBG1:c.19G>A \| HBG2:c.19G>A	Aγ or Gγ	Causative	γ-chain variant	NG_000007.3	47830
1462	CD 6 GAG>CAG	Hb F-Pordenone	HBG1:c.19G>C	Aγ	Causative	γ-chain variant	NG_000007.3	47830
1463	CD 6 GAG>GGG	Hb F-Kotobuki	HBG1:c.20A>G	Aγ	Causative	γ-chain variant	NG_000007.3	47831
1411	CD 12 ACA>AAA [Thr>Lys]	Hb F-Alexandra	HBG1:c.38C>A \| HBG2:c.38C>A	Aγ or Gγ	Causative	γ-chain variant	NG_000007.3	47849
1464	CD 12 ACA>AGA	Hb F-Calluna	HBG1:c.38C>G	Aγ	Causative	γ-chain variant	NG_000007.3	47849
3320	CD 16 GGC>GAC [Gly>Asp]	Hb F-Chori-I	HBG1:c.50G>A	Aγ	Causative	γ-chain variant	NG_000007.3	47861
1465	CD 22 GAT>AAT [Asp>Asn]	Hb F-Beni Khirane	HBG1:c.67G>A	Aγ	Causative	γ-chain variant	NG_000007.3	47878
1466	CD 22 GAT>GGT	Hb F-Kuala Lumpur	HBG1:c.68A>G	Aγ	Causative	γ-chain variant	NG_000007.3	47879
1467	CD 23 (-GCT)	Hb F-Mauritius	HBG1:c.70_72del	Aγ	Causative	γ-chain variant	NG_000007.3	47881
1468	CD 25 GGA>CGA	Hb F-Xinjiang	HBG1:c.76G>C	Aγ	Causative	γ-chain variant	NG_000007.3	47887
3321	CD 29 GGA>GAA [Gly>Glu]	Hb F-Chori-II	HBG1:c.89G>A	Aγ	Causative	γ-chain variant	NG_000007.3	47900
1469	CD 36 CCA>CGA	Hb F-Pendergrass	HBG1:c.110C>G	Aγ	Causative	γ-chain variant	NG_000007.3	48043
1470	CD 37 TGG>GGG	Hb F-Cobb	HBG1:c.112T>G	Aγ	Causative	γ-chain variant	NG_000007.3	48045
1471	CD 39 CAG>CGG	Hb F-Bonaire-GA	HBG1:c.119A>G	Aγ	Causative	γ-chain variant	NG_000007.3	48052
1472	CD 40 AGG>AAG	Hb F-Woodstock	HBG1:c.122G>A	Aγ	Causative	γ-chain variant	NG_000007.3	48055
1473	CD 43 GAC>AAC	Hb F-Fukuyama	HBG1:c.130G>A	Aγ	Causative	γ-chain variant	NG_000007.3	48063
1474	CD 53 GCC>GAC	Hb F-Beech Island	HBG1:c.161C>A	Aγ	Causative	γ-chain variant	NG_000007.3	48094
1530	Italian (Aγδβ)0	N/A	NC_000011.10:g.5194458_5249516del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	48100
1475	CD 61 AAG>GAG	Hb F-Jamaica	HBG1:c.184A>G	Aγ	Causative	γ-chain variant	NG_000007.3	48117
3917	CD 67 GTG>ATG [Val>Met]	Hb Toms River	HBG1:c.202G>A	Aγ	Causative	γ-chain variant	NG_000007.3	48135
1476	CD 72 GGA>CGA	Hb F-Iwata	HBG1:c.217G>C	Aγ	Causative	γ-chain variant	NG_000007.3	48150
1477	CD 73 GAT>CAT	Hb F-Xin-Su	HBG1:c.220G>C	Aγ	Causative	γ-chain variant	NG_000007.3	48153
1478	CD 73 GAT>AAT	Hb F-Forest Park	HBG1:c.220G>A	Aγ	Causative	γ-chain variant	NG_000007.3	48153
1479	CD 75 ATA>ACA	Hb F-Sardinia (AgammaT)	HBG1:c.227T>C	Aγ	Causative	γ-chain variant	NG_000007.3	48160
1480	CD 79 GAT>AAT	Hb F-Dammam	HBG1:c.238G>A	Aγ	Causative	γ-chain variant	NG_000007.3	48171
1481	CD 80 GAT>AAT	Hb F-Yamaguchi	HBG1:c.241G>A	Aγ	Causative	γ-chain variant	NG_000007.3	48174
1482	CD 80 GAT>TAT [Asp>Tyr]	Hb F-Victoria Jubilee	HBG1:c.241G>T	Aγ	Causative	γ-chain variant	NG_000007.3	48174
1498	(HPFH-7, Kenya)	Hb Kenya	NG_000007.3:g.48194_70985del	Aγ, δ, β, pseudo β	Causative	β-chain variant, Hb F levels	NG_000007.3	48194
2415	CD 91 CTG>CGG [Leu>Arg]	Hb F-Moyen-Orient	HBG1:c.275T>G	Aγ	Causative	γ-chain variant	NG_000007.3	48208
1483	CD 97 CAT>CGT	Hb F-Dickinson	HBG1:c.293A>G	Aγ	Causative	γ-chain variant	NG_000007.3	48226
1527	Chinese (Aγδβ)0	N/A	NC_000011.10:g.5169918_5248821del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	48795
1526	Black (Aγδβ)0	N/A	NC_000011.10:g.5212727_5248576del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	49040
2556	CD 113 GTT>ATT [Val>Ile]	Hb F-Sykesville MD	HBG1:c.340G>A	Aγ	Causative	γ-chain variant	NG_000007.3	49153
1484	CD 119 GGC>AGC [Gly>Ser]	Hb F-Osilo	HBG1:c.358G>A	Aγ	Causative	γ-chain variant	NG_000007.3	49171
1485	CD 121 GAA>AAA [Glu>Lys] (Hb F-Siena)	Hb F-Hull	HBG1:c.364G>A	Aγ	Causative	γ-chain variant	NG_000007.3	49177
1487	CD 121 GAA>CAA	Hb F-Campinas	HBG1:c.364G>C	Aγ	Causative	γ-chain variant	NG_000007.3	49177
2396	CD 121 GAA>GTA [Glu>Val]	Hb F-Salamanque	HBG1:c.365A>T	Aγ	Causative	γ-chain variant	NG_000007.3	49178
2453	CD 125 GAG>GCG [Glu>Ala]	Hb F-Port Royal II	HBG1:c.377A>C	Aγ	Causative	γ-chain variant	NG_000007.3	49190
1488	CD 128 GCT>ACT	Hb F-Baskent	HBG1:c.385G>A	Aγ	Causative	γ-chain variant	NG_000007.3	49198
1489	CD 131 CAG>CAT [Gln>His]	Hb F-Oman	HBG1:c.396G>T	Aγ	Causative	γ-chain variant	NG_000007.3	49209
1490	CD 134 GTG>ATG	Hb F-Jiangsu	HBG1:c.403G>A	Aγ	Causative	γ-chain variant	NG_000007.3	49216
1491	CD 136 GCA>TCA	Hb F-Porto Torres	HBG1:c.409G>T	Aγ	Causative	γ-chain variant	NG_000007.3	49222
1492	CD 136 GCA>GGA	Hb F-Charlotte	HBG1:c.410C>G	Aγ	Causative	γ-chain variant	NG_000007.3	49223
3892	CD 139 AGT>AGG [Ser>Arg]	Hb F-Streeterville	HBG1:c.420T>G	Aγ	Causative	γ-chain variant	NG_000007.3	49233
1506	Indian (δβ)0 (32.6 kb GγΑγ(δβ)0 Indian del)	N/A	NC_000011.10:g.5214461_5247124del	δ, β, pseudo β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	50492
1508	Japanese (δβ)0	N/A	NC_000011.10:g.5132468_5246133del	δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	51483
1501	Indian HPFH-3	N/A	NC_000011.10:g.5194459_5244226del	δ, β, pseudo β	Causative	HPFH, Hb F levels	NG_000007.3	53390
1500	Ghanaian (HPFH-2)	N/A	NC_000011.10:g.5158438_5242749del	δ, β, pseudo β	Causative	HPFH, Hb F levels	NG_000007.3	54867
2156	Algerian HPFH deletion	N/A	NG_000007.3:g.57141_81002del; 81008delA	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	57141, 81008
2155	French West-Indies deletion/insertion (French West-Indies HPFH deletion)	N/A	NG_000007.3:g.57155_80887delinsCAGCAGGAAAGTGAGAAG	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	57155
1497	Corfu (δ)0 (7.2kb Corfu deletion)	N/A	NG_000007.3:g.57237_64443del7207	δ	Causative	δ-thalassaemia	NG_000007.3	57237
110	IVS I-5 (G>A) + Corfu deletion (7.2 kb Corfu δβ thalassaemia, Corfu (δβ)0)	N/A	NG_000007.3:g.57237_64443del7207; HBB:c.92+5G>A	δ, β	Causative	δβ-thalassaemia	NG_000007.3	57237, 70691
3971	Tunisian (δβ)0	N/A	NG_000007.3:g.58253_72837del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	58253
1499	Black (HPFH-1)	N/A	NC_000011.10:g.5153222_5238138delinsAAATA	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	59478
1509	Spanish (δβ)0	N/A	NG_000011.10:g.5144331_5237241del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	60375
1510	Black (δβ)0	N/A	NG_000007.3:g.(60530_60730)_(72351_72551)del11822	δ, β	Causative	δβ-thalassaemia	NG_000007.3	60530
2154	French deletion/insertion (French HPFH deletion)	N/A	NG_000007.3:g.[61399_61400insC; 61402_81144del]	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	61402
3601	-130 A>G	N/A	HBD:c.-180A>G	δ	Causative	δ-thalassaemia	NG_000007.3	63003
3223	CAP +48 (A>T)	N/A	HBD:c.-6A>T	δ	Causative	δ-thalassaemia	NG_000007.3	63019
2202	CAP +53 (G>A)	N/A	HBD:c.-1G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63024
1321	-80 (G>A)	N/A	HBD:c.-130G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63053
1322	-77 T>C	N/A	HBD:c.-127T>C	δ	Causative	δ-thalassaemia	NG_000007.3	63056
1323	-76 (A>T)	N/A	HBD:c.-126A>T	δ	Causative	δ-thalassaemia	NG_000007.3	63057
1324	-68 (C>T)	N/A	HBD:c.-118C>T	δ	Causative	δ-thalassaemia	NG_000007.3	63065
1325	-65 (A>G)	N/A	HBD:c.-115A>G	δ	Causative	δ-thalassaemia	NG_000007.3	63068
1326	-55 (T>C)	N/A	HBD:c.-105T>C	δ	Causative	δ-thalassaemia	NG_000007.3	63078
3602	-44 G>A	N/A	HBD:c.-94G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63089
1327	-36 (C>A)	N/A	HBD:c.-86C>A	δ	Causative	δ-thalassaemia	NG_000007.3	63097
4096	Hb Anti-Lepore Laibin	Hb Anti-Lepore Laibin	NG_000007.3:g.63100_70511dup	δ, β	Causative	δ-chain variant	NG_000007.3	63100
1328	-31 (A>G)	N/A	HBD:c.-81A>G	δ	Causative	δ-thalassaemia	NG_000007.3	63102
1329	-30 T>C	N/A	HBD:c.-80T>C	δ	Causative	δ-thalassaemia	NG_000007.3	63103
3792	N/A	Hb Lepore-Hong Kong	NG_000007.3:g.63154_70565del	δ, β	Causative	δβ-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	63154
3964	Hb Anti-Lepore Liuzhou	N/A	NG_000007.3:g.63154_70565dup	δ, β	Causative	δ-chain variant	NG_000007.3	63154
1330	Init CD ATG>ATA [Met>Ile]	N/A	HBD:c.3G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63185
1347	CD 1 GTG>GCG	Hb A2-Niigata	HBD:c.5T>C	δ	Causative	δ-chain variant	NG_000007.3	63187
2328	CD 2 CAT>AAT [His>Asn]	Hb A2-Calderdale	HBD:c.7C>A	δ	Causative	δ-chain variant	NG_000007.3	63189
1348	CD 2 CAT>CTT	Hb A2-Catania	HBD:c.8A>T	δ	Causative	δ-chain variant	NG_000007.3	63190
1349	CD 2 CAT>CGT	Hb A2-Sphakiá	HBD:c.8A>G	δ	Causative	δ-chain variant	NG_000007.3	63190
3307	N/A	Hb Lepore Rochester-MN	NG_000007.3:g.[63191_70603dup;63291_70703del]	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63191
3366	CD 3 CTG>CCG [Leu>Pro]	Hb A2-Sile	HBD:c.11T>C	δ	Causative	δ-chain variant	NG_000007.3	63193
1331	CD 4 ACT>ATT [Thr>Ile] (HbA2-Mitsero)	N/A	HBD:c.14C>T	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63196
1350	CD 4 ACT>AGT [Thr>Ser]	Hb A2-Acacias	HBD:c.14C>G	δ	Causative	δ-chain variant	NG_000007.3	63196
3617	CD 5 CCT>ACT [Pro>Thr]	Hb A2-Partinico	HBD:c.16C>A	δ	Causative	δ-thalassaemia	NG_000007.3	63198
3336	CD 7 GAG>TAG [Glu>STOP]	N/A	HBD:c.22G>T	δ	Causative	δ-thalassaemia	NG_000007.3	63204
4035	CD 7 GAG>AAG [Glu>Lys]	Hb A2-Zhengzhou	HBD:c.22G>A	δ	Causative	δ-chain variant	NG_000007.3	63204
3231	CD 7 (-3bp): (-GAG)	N/A	HBD:c.22_24delGAG	δ	Causative	δ-thalassaemia	NG_000007.3	63204
1351	CD 7 GAG>GCG [Glu>Ala]	Hb A2-Udine	HBD:c.23A>C	δ	Causative	δ-chain variant	NG_000007.3	63205
2325	CD 7 GAG>GAC [Glu>Asp]	Hb A2-Pordenone	HBD:c.24G>C	δ	Causative	δ-chain variant	NG_000007.3	63206
1352	CD 8 AAG>GAG [Lys>Glu]	Hb A2-Toranomon	HBD:c.25A>G	δ	Causative	δ-chain variant	NG_000007.3	63207
4030	CD 8 AAG>AAC [Lys>Asn]	Hb A2-Hengyang	HBD:c.27G>C	δ	Causative	δ-chain variant	NG_000007.3	63209
3232	CD 10 GCT>-CT	N/A	HBD:c.31delG	δ	Causative	δ-thalassaemia	NG_000007.3	63213
3243	CD 10 GCT>CCT [Ala>Pro]	Hb A2-Guangzhou	HBD:c.31G>C	δ	Causative	δ-chain variant	NG_000007.3	63213
3496	CD 10 GCT>GTT [Ala>Val]	Hb A2-Canakkale	HBD:c.32C>T	δ	Causative	δ-chain variant	NG_000007.3	63214
1353	CD 11 GTC>GGC	Hb A2-Pylos	HBD:c.35T>G	δ	Causative	δ-chain variant	NG_000007.3	63217
2299	CD 12 AAT>ACT (Asn>Thr)	Hb A2-Rotterdam	HBD:c.38A>C	δ	Causative	δ-chain variant	NG_000007.3	63220
1354	CD 12 AAT>AAA [Asn>Lys]	Hb A2-NYU	HBD:c.39T>A	δ	Causative	δ-chain variant	NG_000007.3	63221
1355	CD 13 GCC>GAC [Ala>Asp] (Hb A2-Corleone)	Hb A2-MUMC	HBD:c.41C>A	δ	Causative	δ-chain variant	NG_000007.3	63223
2448	CD 14 CTG>CCG [Leu>Pro]	Hb A2-Saint-Etienne	HBD:c.44T>C	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63226
3628	CD 15 TGG>CGG [Trp>Arg]	Hb A2-Utah	HBD:c.46T>C	δ	Causative	δ-chain variant	NG_000007.3	63228
3372	CD 15 TGG>TTG [Trp>Leu]	Hb A2-Stockholm	HBD:c.47G>T	δ	Causative	δ-chain variant	NG_000007.3	63229
1356	CD 16 GGC>CGC	Hb A2' or Hb B2	HBD:c.49G>C	δ	Causative	δ-chain variant	NG_000007.3	63231
4097	CD 17 AAA>CAA [Lys>Gln]	Hb A2-Laibin	HBD:c.52A>C	δ	Causative	δ-thalassaemia	NG_000007.3	63234
3242	CD 17 AAA>ACA [Lys>Thr]	Hb A2-Qingyuan	HBD:c.53A>C	δ	Causative	δ-chain variant	NG_000007.3	63235
4039	CD 18 GTG>GGG [Val>Gly]	Hb A2-Siping	HBD:c.56T>G	δ	Causative	δ-chain variant	NG_000007.3	63238
2292	CD 19 AAC>AAA [Asn>Lys]	Hb Famagusta	HBD:c.60C>A	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63242
1357	CD 20 GTG>GAG	Hb A2-Roosevelt	HBD:c.62T>A	δ	Causative	δ-chain variant	NG_000007.3	63244
3241	CD 21 GAT>GGT [Asp>Gly]	Hb A2-Dongguan	HBD:c.65A>G	δ	Causative	δ-chain variant	NG_000007.3	63247
1396	(δβδ hybrid)	Hb Parchman	NG_000007.3:g.[63249_70661del;63571_70985dup]	δ, β	Causative	δ-chain variant	NG_000007.3	63249
1401	(Hb Anti-Lepore Miyada)	Hb Miyada	NG_000007.3:g.63249_70661dup	δ, β	Causative	N/A	NG_000007.3	63249
2447	CD 22 GCA>ACA>AAA [Ala>Lys]	Hb A2-Marseille	HBD:c.[67G>A; 68C>A]	δ	Causative	δ-chain variant	NG_000007.3	63249
1358	CD 22 GCA>GAA [Ala>Glu]	Hb A2-Flatbush	HBD:c.68C>A	δ	Causative	δ-chain variant	NG_000007.3	63250
1359	CD 24 GGT>GAT	Hb A2-Victoria	HBD:c.74G>A	δ	Causative	δ-chain variant	NG_000007.3	63256
1360	CD 25 GGT>GAT	Hb A2-Yokoshima	HBD:c.77G>A	δ	Causative	δ-chain variant	NG_000007.3	63259
1361	CD 26 GAG>GAC	Hb A2-Puglia	HBD:c.81G>C	δ	Causative	δ-chain variant	NG_000007.3	63263
1332	CD 27 GCC>TCC [Ala>Ser]	Hb A2-Yialousa	HBD:c.82G>T	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63264
3240	CD 28 CTG>CCG [Leu>Pro]	Hb A2-Hunan	HBD:c.86T>C	δ	Causative	δ-chain variant	NG_000007.3	63268
2437	CD 29 GGC>GAC [Gly>Asp]	Hb A2-Hong Kong	HBD:c.89G>A	δ	Causative	δ-chain variant	NG_000007.3	63271
3960	CD 29 GGC>GGT [Gly>Gly]	N/A	HBD:c.90C>T	δ	Causative	δ-thalassaemia	NG_000007.3	63272
1333	CD 30 (AGG>ACG)	N/A	HBD:c.92G>C	δ	Causative	δ-thalassaemia	NG_000007.3	63274
3883	IVS I-1 G>C	N/A	HBD:c.92+1G>C	δ	Causative	δ-thalassaemia	NG_000007.3	63275
1334	IVS I-2 (T>C)	N/A	HBD:c.92+2T>C	δ	Causative	δ-thalassaemia	NG_000007.3	63276
2090	IVS I-5 G>T	N/A	HBD:c.92+5G>T	δ	Causative	δ-thalassaemia	NG_000007.3	63279
1397		Hb Lepore-Hollandia	NG_000007.3:g.63290_70702del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63290
2563	IVS I-1 (27 bp insertion)	N/A	HBD:c.92+83_84ins27	δ	Causative	δ-thalassaemia	NG_000007.3	63357
3233	IVS I 3' AG>-C	N/A	HBD:c.93-2delA	δ	Causative	δ-thalassaemia	NG_000007.3	63401
1335	IVS I-128 G>C (IVS I 3' AG>AC)	N/A	HBD:c.93-1G>C	δ	Causative	δ-thalassaemia	NG_000007.3	63402
1363	CD 36 CCT>CAT	Hb A2-Metaponto	HBD:c.110C>A	δ	Causative	δ-chain variant	NG_000007.3	63420
3387	CD 36 CCT>CGT [Pro>Arg]	Hb A2-Sanremo	HBD:c.110C>G	δ	Causative	δ-chain variant	NG_000007.3	63420
1336	CD 37 (TGG>TAG)	N/A	HBD:c.113G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63423
4029	CD 39 CAG>AAG [Gln>Lys]	Hb A2-Chengdu	HBD:c.118C>A	δ	Causative	δ-chain variant	NG_000007.3	63428
2320	CD 39 CAG>CAC [Gln>His]	Hb A2-Lyon	HBD:c.120G>C	δ	Causative	δ-chain variant	NG_000007.3	63430
4037	CD 40 AGG>AGT [Arg>Ser]	Hb A2-Wuhan	HBD:c.123G>T	δ	Causative	δ-chain variant	NG_000007.3	63433
3239	CD 42 TTT>CTT [Phe>Leu]	Hb A2-Huadu	HBD:c.127T>C	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63437
1364	CD 43 GAG>AAG	Hb A2-Melbourne	HBD:c.130G>A	δ	Causative	δ-chain variant	NG_000007.3	63440
1365	CD 43 GAG>GGG	Hb A2-Agrinio	HBD:c.131A>G	δ	Causative	δ-chain variant	NG_000007.3	63441
3238	CD 44 TCC>TGC [Ser>Cys]	Hb A2-Conghua	HBD:c.134C>G	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63444
3806	CD 44-48 (-CTTTGGGGATC) (p.Phe46Valfs*4)	N/A	HBD:c.135_145del	δ	Causative	δ-thalassaemia	NG_000007.3	63445
4026	CD 46 GGG>CGG [Gly>Arg], IVS II-456 A>G	Hb A2-Malay	HBD:c.[139G>C;316-443A>G]	δ	Causative	δ-thalassaemia	NG_000007.3	63449, 64081
4069	CD 46 GGG>AGG [Gly>Arg]	Hb A2-Yulin	HBD:c.139G>A	δ	Causative	δ-chain variant	NG_000007.3	63449
2425	CD 46 GGG>GAG [Gly>Glu]	Hb A2-Tunis	HBD:c.140G>A	δ	Causative	δ-chain variant	NG_000007.3	63450
3317	CD 47 GAT>AAT [Asp>Asn]	Hb A2-Lampang	HBD:c.142G>A	δ	Causative	δ-chain variant	NG_000007.3	63452
1366	CD 47 GAT>GTT	Hb A2-Parkville	HBD:c.143A>T	δ	Causative	δ-chain variant	NG_000007.3	63453
2426	CD 50 TCT>ACT [Ser>Thr]	Hb A2-Konz	HBD:c.151T>A	δ	Causative	δ-chain variant	NG_000007.3	63461
1367	CD 51 CCT>CGT	Hb A2-Adria	HBD:c.155C>G	δ	Causative	δ-chain variant	NG_000007.3	63465
2329	CD 52 GAT>CAT [Asp>His]	Hb A2-Walsgrave	HBD:c.157G>C	δ	Causative	δ-chain variant	NG_000007.3	63467
3316	CD 53 GCT>CCT [Ala>Pro]	Hb A2-Edirne	HBD:c.160G>C	δ	Causative	δ-chain variant	NG_000007.3	63470
3315	CD 56 GGC>GAC [Gly>Asp]	Hb A2-Shah Alam	HBD:c.170G>A	δ	Causative	δ-chain variant	NG_000007.3	63480
1368	CD 57 AAC>AAA	Hb A2-Campania	HBD:c.174C>A	δ	Causative	δ-chain variant	NG_000007.3	63484
2575	CD 58 +C	N/A	HBD:c.176_177insC	δ	Causative	δ-thalassaemia	NG_000007.3	63486
1369	CD 59 AAG>ATG [Lys>Met]	Hb A2-North Africa	HBD:c.179A>T	δ	Causative	δ-chain variant	NG_000007.3	63489
3441	CD 59 AAG>A-G (δ0 59 (-A))	N/A	HBD:c.179delA	δ	Causative	δ-thalassaemia	NG_000007.3	63489
1370	CD 59 AAG>AAC	Hb A2-Pasteur-Tunis	HBD:c.180G>C	δ	Causative	δ-chain variant	NG_000007.3	63490
3237	CD 59/60 (+GG)	N/A	HBD:c.180_181dup	δ	Causative	δ-thalassaemia	NG_000007.3	63490
3870	CD 62 GCT>CCT [Ala>Pro]	N/A	HBD:c.187G>C	δ	Causative	δ-thalassaemia	NG_000007.3	63497
1371	CD 64 GGC>AGC (Gly>Ser) (Hb A2-Venlo)	Hb A2-Fogo	HBD:c.193G>A	δ	Causative	δ-chain variant	NG_000007.3	63503
4036	CD 65 AAG>ATG [Lys>Met]	Hb A2-Zhaoqing	HBD:c.197A>G	δ	Causative	δ-chain variant	NG_000007.3	63507
3495	CD 65 AAG>AAT [Lys>Asn]	Hb A2-Yunnan	HBD:c.198G>T	δ	Causative	δ-chain variant	NG_000007.3	63508
4109	N/A	Hb Lepore-Quanzhou	NG_000007.3:g.63511_70924del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63511
2573	CD 67 GTG>ATG [Val>Met]	Hb A2-Deventer	HBD:c.202G>A	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63512
1372	CD 69 GGT>CGT	Hb A2-Indonesia	HBD:c.208G>C	δ	Causative	δ-chain variant	NG_000007.3	63518
3406	CD 69 GGT>GAT [Gly>Asp]	Hb A2-Gebenstorf	HBD:c.209G>A	δ	Causative	δ-chain variant	NG_000007.3	63519
1373	CD 70 GCC>GGC [Ala>Gly] (Cubstitution of Ala with Gly at helical position E14, which is in contact with heme.)	Hb A2-Ventimiglia	HBD:c.212C>G	δ	Causative	δ-chain variant	NG_000007.3	63522
3335	CD 73 GAT>GTT [Asp>Val]	Hb A2-Henan	HBD:c.221A>T	δ	Causative	δ-chain variant	NG_000007.3	63531
2324	CD 74 GGC>GAC [Gly>Asp]	Hb A2-Asti	HBD:c.224G>A	δ	Causative	δ-chain variant	NG_000007.3	63534
1374	CD 75 CTG>GTG	Hb A2-Grovetown	HBD:c.226C>G	δ	Causative	δ-chain variant	NG_000007.3	63536
4092	CD 76 GCT>GAT [Ala>Asp]	Hb A2-Moyen-Orient	HBD:c.230C>A	δ	Causative	δ-chain variant	NG_000007.3	63540
3256	CD 77 CAC>CGC [His>Arg]	Hb A2-Kiriwong	HBD:c.233A>G	δ	Causative	δ-chain variant	NG_000007.3	63543
4091	CD 79 GAC>AAC [Asp>Asn]	Hb A2-Guangxi	HBD:c.238G>A	δ	Causative	δ-chain variant	NG_000007.3	63548
2477	CD 79 GAC>GGC [Asp>Gly]	Hb A2-Turkish	HBD:c.239A>G	δ	Causative	δ-chain variant	NG_000007.3	63549
4032	CD 80 AAC>AAA [Asn>Lys]	Hb A2-Lishui	HBD:c.243C>A	δ	Causative	δ-chain variant	NG_000007.3	63552
2309	CD 81 CTC>TTC [Leu>Phe] (Hb A2-Saint-Denis)	Hb A2-St. George's	HBD:c.244C>T	δ	Causative	δ-chain variant	NG_000007.3	63554
2092	CD 82 AAG>TAG	N/A	NG_000007.3:g.63557A>T	δ	Causative	δ-thalassaemia	NG_000007.3	63557
3992	CD 82 AAG>AAT [Lys>Asn]; CD133 GTG>ATG [Val>Met]	Hb A2-Roi-Et	HBD:c.[249G>T;400G>A]	δ	Causative	δ-chain variant	NG_000007.3	63559, 64608
1375	CD 83 GGC>GAC [Gly>Asp]	Hb A2-Nishishinbashi	HBD:c.251G>A	δ	Causative	δ-chain variant	NG_000007.3	63561
1398		Hb Lepore-Baltimore	NG_000007.3:g.63564_70978del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63564
1376	CD 85 TTT>TCT	Hb A2-Etolia	HBD:c.257T>C	δ	Causative	δ-chain variant	NG_000007.3	63567
1377	CD 87 CAG>AAG	Hb A2-Montechiaro	HBD:c.262C>A	δ	Causative	δ-chain variant	NG_000007.3	63572
3844	CD 87 CAG>TAG [Gln>STOP]	N/A	HBD:c.262C>T	δ	Causative	δ-thalassaemia	NG_000007.3	63572
4016	CD 87 CAG>CGG [Gln>Arg]	Hb A2-Cremona	HBD:c.263A>G	δ	Causative	δ-chain variant	NG_000007.3	63573
3236	CD 87 CAG>C-G	N/A	HBD:c.263delA	δ	Causative	δ-thalassaemia	NG_000007.3	63573
1378	CD 88 CTG>GTG	Hb A2-Lucania	HBD:c.265C>G	δ	Causative	δ-chain variant	NG_000007.3	63575
3547	CD 89 AGT>AAT [Ser>Asn]	Hb A2-Pistoia	HBD:c.269G>A	δ	Causative	δ-chain variant	NG_000007.3	63579
2476	CD 90 GAG>AAG [Glu>Lys]	Hb A2-Canebière	HBD:c.271G>A	δ	Causative	δ-chain variant	NG_000007.3	63581
1379	CD 90 GAG>GTG [Glu>Val]	Hb A2-Honai	HBD:c.272A>T	δ	Causative	δ-chain variant	NG_000007.3	63582
2354	CD 90 GAG>GGG [Glu>Gly]	Hb A2-India	HBD:c.272A>G	δ	Causative	δ-chain variant	NG_000007.3	63582
1338	CD 91 (+T)	N/A	HBD:c.275dupT	δ	Causative	δ-thalassaemia	NG_000007.3	63585
3383	CD 91 CTG>CCG [Leu>Pro]	Hb A2-Courbevoie	HBD:c.275T>C	δ	Causative	δ-chain variant	NG_000007.3	63585
1380	CD 93 TGT>GGT	Hb A2-Sant' Antioco	HBD:c.280T>G	δ	Causative	δ-chain variant	NG_000007.3	63590
3598	CD 93/94 (-TG) [Cys>STOP]	N/A	HBD:c.282_283delTG	δ	Causative	N/A	NG_000007.3	63592
4013	CD 93 TGT>TGG [Cys>Trp]	Hb A2-Pontedera	HBD:c.282T>G	δ	Causative	δ-chain variant	NG_000007.3	63592
4031	CD 96 CTG>CGG [Leu>Arg]	Hb A2-Hubei	HBD:C.290T>G	δ	Causative	δ-chain variant	NG_000007.3	63600
3222	CD 97 CAC>CGC [His>Arg]	Hb A2-Merchang	HBD:c.293A>G	δ	Causative	δ-chain variant	NG_000007.3	63603
1339	CD 98 (GTG>ATG)	Hb A2-Wrens	HBD:c.295G>A	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63605
3975	CD 98 (-GTG, +A)	N/A	HBD:c.295_297delGTGinsA	δ	Causative	δ-thalassaemia	NG_000007.3	63605
1382	CD 99 GAT>AAT	Hb A2-Canada	HBD:c.298G>A	δ	Causative	δ-chain variant	NG_000007.3	63608
4038	CD 99 GAT>GGT [Asp>Gly]	Hb A2-Wanxian	HBD:c.299A>G	δ	Causative	δ-chain variant	NG_000007.3	63609
3003	CD 100 CCT>TCT [Pro>Ser]	Hb A2-Saurashtra	HBD:c.301C>T	δ	Causative	δ-chain variant	NG_000007.3	63611
3002	CD 104 AGG>AAG [Arg>Lys]	Hb Chori-Burnaby	HBD:c.314G>A	δ	Causative	δ-chain variant	NG_000007.3	63624
1383	CD 104 AGG>AGT	Hb A2-Capri	HBD:c.315G>T	δ	Causative	δ-chain variant	NG_000007.3	63625
1340	IVS II-1 G>A	N/A	HBD:c.315+1G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63626
1341	IVS II-6 (T>A)	N/A	HBD:c.315+6T>A	δ	Causative	δ-thalassaemia	NG_000007.3	63631
1399		Hb Lepore-Boston-Washington	NG_000007.3:g.63632_71046del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63632
1403	(Hb Anti-Lepore P-India)	Hb P-India	NG_000007.3:g.63632_71046dup	δ, β	Causative	δ-chain variant	NG_000007.3	63632
1507	Sicilian (δβ)0	N/A	NG_000007.3:g.64336_77738del	δ, β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	64336
1512	Laotian (δβ)0 (Thai (δβ)0-thal)	N/A	NG_000007.3:g.(64336_64524)_76866del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	64336
1513	Thai/Vietnamese (δβ)0 (Thai (δβ)0 , Vietnamese (δβ)0 )	N/A	NG_000007.3:g.64384_76993del	δ, β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	64384
1342	IVS II-894 C>T	N/A	HBD:c.316-5C>T	δ	Causative	δ-thalassaemia	NG_000007.3	64519
1343	IVS II-897 A>C	N/A	HBD:c.316-2A>C	δ	Causative	δ-thalassaemia	NG_000007.3	64522
2473	IVS II-897 A>G	N/A	HBD:c.316-2A>G	δ	Causative	δ-thalassaemia	NG_000007.3	64522
2201	CD 107 G>A [Gly>Asp]	Hb A2-Tianhe	HBD:c.323G>A	δ	Causative	δ-chain variant	NG_000007.3	64531
3235	CD 108 AAT>GAT [Asn>Asp]	Hb A2-Meizhou	HBD:c.325A>G	δ	Causative	δ-chain variant	NG_000007.3	64533
2521	CD 110-111 +GT	N/A	HBD:c.333_334insGT	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64541
3234	CD 113 (+TG)	N/A	HBD:c.341_342dupTG	δ	Causative	δ-thalassaemia	NG_000007.3	64549
3230	CD 115 GCC>GTC [Ala>Val]	N/A	HBD:c.347C>T	δ	Causative	δ-thalassaemia	NG_000007.3	64555
1384	CD 116 CGC>TGC [Arg>Cys]	Hb A2-Troodos	HBD:c.349C>T	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64557
1402	(Hb Anti-Lepore P-Congo)	Hb P-Congo	NG_000007.3:g.64557_71923dup	δ, β	Causative	δ-chain variant	NG_000007.3	64557
3229	CD 116 CGC>GGC [Arg>Gly]	N/A	HBD:c.349C>G	δ	Causative	δ-thalassaemia	NG_000007.3	64557
1385	CD 116 CGC>CAC [Arg>His]	Hb A2-Coburg	HBD:c.350G>A	δ	Causative	δ-chain variant	NG_000007.3	64558
3314	CD 116 CGC>CCC [Arg>Pro]	Hb A2-Bornova	HBD:c.350G>C	δ	Causative	δ-chain variant	NG_000007.3	64558
3318	CD 116 CGC>CTC [Arg>Leu] (Hb A2-India)	Hb A2-Lepore	HBD:c.350G>T	δ	Causative	δ-chain variant	NG_000007.3	64558
1386	CD 117 AAC>GAC	Hb A2-Liangcheng	HBD:c.352A>G	δ	Causative	δ-chain variant	NG_000007.3	64560
2574	CD 117 AAC>ACC [Asn>Thr]	Hb A2-Amsterdam	HBD:c.353A>C	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64561
2363	CD 119 GGC>GAC [Gly>Asp]	Hb A2-Lewisburg	HBD:c.359G>A	δ	Causative	δ-chain variant	NG_000007.3	64567
3843	CD 120 AAG>ACG [Lys>Thr]	Hb A2-Liangqing	HBD:c.362A>C	δ	Causative	δ-chain variant	NG_000007.3	64570
3058	CD 121 GAA>AAA [Glu>Lys]	Hb A2-Fengshun	HBD:c.364G>A	δ	Causative	δ-chain variant	NG_000007.3	64572
1387	CD 121 GAA>GTA	Hb A2-Manzanares	HBD:c.365A>T	δ	Causative	δ-chain variant	NG_000007.3	64573
4012	CD 123 ACC>GCC [Thr>Ala]	Hb A2-Kuching	HBD:c.370A>G	δ	Causative	δ-chain variant	NG_000007.3	64578
1388	CD 125 CAA>GAA	Hb A2-Zagreb	HBD:c.376C>G	δ	Causative	δ-chain variant	NG_000007.3	64584
3867	>6.5 Kb deletion	N/A	NG_000007.3:g.(63032_64585)_(71150_72080)del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	64585
4034	CD 125 CAA>CGA [Gln>Arg]	Hb A2-Tongchuan	HBD:c.377A>G	δ	Causative	δ-chain variant	NG_000007.3	64585
3546	CD 130 TAT>-AT	Hb A2-Gaslini 1	HBD:c.391delT	δ	Causative	δ-chain variant	NG_000007.3	64599
3490	CD 131 CAG>GAG [Gln>Glu]	Hb A2-Puer	HBD:c.394C>G	δ	Causative	δ-chain variant	NG_000007.3	64602
1389	CD 133 GTG>GCG	Hb A2-Ninive	HBD:c.401T>C	δ	Causative	δ-chain variant	NG_000007.3	64609
3842	CD134 GTG>GAG [Val>Glu]	N/A	HBD:c.404T>A	δ	Causative	δ-thalassaemia	NG_000007.3	64612
1390	CD 136 GGT>GAT [Gly>Asp]	Hb A2-Babinga	HBD:c.410G>A	δ	Causative	δ-chain variant	NG_000007.3	64618
2482	CD 137 -GTG [-Val] (Hb Anti-Lepore Lincoln Park)	Hb Lincoln Park	HBD:c.412_414delGTG	δ	Causative	δ-chain variant, Haemolytic anaemia	NG_000007.3	64620
1391	CD 140 GCC>GTC	Hb A2-Bagheria	HBD:c.422C>T	δ	Causative	δ-chain variant	NG_000007.3	64630
1392	CD 141 CTG>CCG	Hb A2-Pelendri	HBD:c.425T>C	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64633
2524	CD 142 GCT>CCT [Ala>Pro]	N/A	HBD:c.427C>A	δ	Causative	δ-chain variant	NG_000007.3	64635
1393	CD 142 GCT>GAT [Ala>Asp]	Hb A2-Fitzroy	HBD:c.428C>A	δ	Causative	δ-chain variant	NG_000007.3	64636
2560	CD 142 GCT>GTT [Ala>Val]	Hb A2-Episkopi	HBD:c.428C>T	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64636
2392	CD 143 CAC>TAC [His>Tyr]	Hb Noah Mehmet Oeztuerk	HBD:c.430C>T	δ	Causative	δ-chain variant	NG_000007.3	64638
2421	CD 143 CAC>GAC [His>Asp]	Hb A2-Leuven	HBD:c.430C>G	δ	Causative	δ-chain variant	NG_000007.3	64638
2989	CD 143 CAC>CGC [His>Arg] (Hb A2-Abruzzo)	Hb A2-Leuven II	HBD:c.431A>G	δ	Causative	δ-chain variant	NG_000007.3	64639
3376	CD 144 AAG>GAG [Lys>Glu]	Hb A2-Angola	HBD:c.433A>G	δ	Causative	δ-chain variant	NG_000007.3	64641
2349	CD 144 AAG>ACG [Lys>Thr]	Hb A2-San Floro	HBD:c.434A>C	δ	Causative	δ-chain variant	NG_000007.3	64642
1394	CD 146 CAT>CGT	Hb A2-Monreale	HBD:c.440A>G	δ	Causative	δ-chain variant	NG_000007.3	64648
3269	CD 147 TGA>CGA [Stop>Arg]	N/A	HBD:c.442T>C	δ	Causative	δ-thalassaemia	NG_000007.3	64650
2520	CD 147 TGA>TTA	N/A	HBD:c.443G>T	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64651
3394	223 kb deletion	N/A	NC_000011.10:g.5010012_5232933del	δ, β	Causative	β-thalassaemia	NG_000007.3	64683
4033	Poly A +69 (G>T)	N/A	HBD:c.*199G>T	δ	Causative	δ-thalassaemia	NG_000007.3	64851
1346	Poly A +69 (G>A)	N/A	HBD:c.*199G>A	δ	Causative	δ-thalassaemia	NG_000007.3	64851
3958	8.2 kb deletion	N/A	NG_000007.3:g.65147_73407del	β	Causative	β-thalassaemia	NG_000007.3	65147
298	Filipino (~45 kb deletion)	N/A	NC_000011.10:g.5112882 _5231358del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	66258
292	Turk (~7.6 kb deletion)	N/A	NG_000007.3:g.[52524_60162del;66278_73952del]	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	66278
2283	South-Italy	N/A	NC_000011.10:g.5164564_5230714del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	66902
2157	Indian (4056 bp deletion)	N/A	NG_000007.3:g.67357_71413del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	67357
3997	7.2 kb deletion	N/A	NC_000011.10:g.5222800_5230034del	β	Causative	β-thalassaemia	NG_000007.3	67582
296	Dutch (12620 bp deletion)	N/A	NG_000007.3:g.68071_80682del12612	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	68071
2124	Caucasian HPFH (27825 bp deletion)	N/A	NC_000011.10:g.5201455_5229279delins5223936_5223960	β	Causative	β-thalassaemia, Hb F levels	NG_000007.3	68337
1505	South East Asian (SEA) deletion (Vietnamese, SE Asian, HPFH-7, SEA-HPFH, 27 kb deletion)	N/A	NC_000011.10:g.5201647_5229059del	β	Causative	β-thalassaemia, Hb F levels	NG_000007.3	68557
3823	60 kb deletion (Prachinburi β0-thalassemia deletion)	N/A	NC_000011.10:g.5167971_5228123delinsA	β	Causative	β-thalassaemia	NG_000007.3	69493
289	Croatian (1605 bp deletion)	N/A	NG_000007.3:g.69561_71164del1604	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	69561
290	Thai (3485 bp deletion, Chongqing deletion, NC_000011.10: g.5224303-5227790del, NC_000011.9: g.5245533_5249020del)	N/A	NG_000007.3:g.69826_73313del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	69826
2150	1357 bp deletion (Taiwanese deletion)	N/A	NG_000007.3:g.69997_71353del1357	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	69997
288	Black, British (1393 bp deletion)	N/A	NG_000007.3:g.70060_71452del1393	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70060
2125	Afghan (909 bp deletion)	N/A	NG_000007:g.70067_70976del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70067
284	468 bp deletion	N/A	NG_000007.3:g.70070_70537del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70070
285	Black (532 bp deletion)	N/A	HBB:c.-504_28del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70091
3277	538 bp deletion	N/A	HBB:c.-464_74del \| NG_000007.3:g.70131_70668del	β	Causative	β-thalassaemia	NG_000007.3	70131
3278	1517 bp deletion	N/A	HBB:c.-390_316-169delinsA	β	Causative	β-thalassaemia	NG_000007.3	70205
4066	10.8 kb deletion	N/A	NC_000011.10:g.5216601_5227407del	β	Causative	β-thalassaemia	NG_000007.3	70209
3081	-223 T>C	N/A	HBB:c.-273T>C	β	Causative	β-thalassaemia	NG_000007.3	70322
3562	-198 A>G	N/A	HBB:c.-248A>G	β	Causative	β-thalassaemia	NG_000007.3	70347
1	-190 (G>A)	N/A	HBB:c.-240G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70355
2122	125 bp deletion	N/A	NG_000007.3:g.70360_70485del125	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70360
2153	Kabylia deletion/insertion	N/A	NG_000007.3:g.70417_72458delinsATAAG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70417
283	290 bp deletion	N/A	HBB:c.-176_92+25del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70419
2	-102 (C>A)	N/A	HBB:c.-152C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70443
3	-101 (C>T)	N/A	HBB:c.-151C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70444
4	-101 (C>G)	N/A	HBB:c.-151C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70444
3752	-99 to -85 (-15bp)	N/A	HBB:c.-149_-135delGTGGAGCCACACCCT	β	Causative	β-thalassaemia	NG_000007.3	70446
3059	-98 T>A	N/A	HBB:c.-148T>A	β	Causative	β-thalassaemia	NG_000007.3	70447
5	-93 C>G	N/A	HBB:c.-143C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70452
6	-92 (C>T)	N/A	HBB:c.-142C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70453
7	-90 (C>T)	N/A	HBB:c.-140C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70455
3224	-90 (C>G)	N/A	HBB:c.-140C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70455
3990	-89 to -88 (-AC)	N/A	HBB:c.-139_-138delAC	β	Causative	β-thalassaemia	NG_000007.3	70456
2178	-88 C>G	N/A	HBB:c.-138C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70457
8	-88 (C>T)	N/A	HBB:c.-138C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70457
9	-88 (C>A)	N/A	HBB:c.-138C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70457
10	-87 C>G	N/A	HBB:c.-137C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70458
11	-87 (C>T)	N/A	HBB:c.-137C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70458
12	-87 (C>A)	N/A	HBB:c.-137C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70458
13	-86 C>G	N/A	HBB:c.-136C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70459
14	-86 (C>A)	N/A	HBB:c.-136C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70459
4028	-86 C>T	N/A	HBB:c.-136C>T	β	Causative	β-thalassaemia	NG_000007.3	70459
3077	-83 G>A	N/A	HBB:c.-133G>A	β	Causative	β-thalassaemia	NG_000007.3	70462
3069	-77 G>C	N/A	HBB:c.-127G>C	β	Causative	β-thalassaemia	NG_000007.3	70468
3386	-76 C>A	N/A	HBB:c.-126C>A	β	Causative	β-thalassaemia	NG_000007.3	70469
3671	-76 C>T	N/A	HBB:c.-126C>T	β	Causative	β-thalassaemia	NG_000007.3	70469
3672	-73 A>C	N/A	HBB:c.-123A>C	β	Causative	β-thalassaemia	NG_000007.3	70472
3673	-73 A>G	N/A	HBB:c.-123A>G	β	Causative	β-thalassaemia	NG_000007.3	70472
15	-73 (A>T)	N/A	HBB:c.-123A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70472
2997	-72 T>A	N/A	HBB:c.-122T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70473
2171	-71 C>T	N/A	HBB:c.-121C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70474
3674	-63 A>G	N/A	HBB:c.-113A>G	β	Causative	β-thalassaemia	NG_000007.3	70482
16	-56 G>C	N/A	HBB:c.-106G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70489
17	-50 G>A	N/A	HBB:c.-100G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70495
3060	-42 C>G	N/A	HBB:c.-92C>G	β	Causative	β-thalassaemia	NG_000007.3	70503
3925	-42 (-C)	N/A	HBB:c.-92delC	β	Causative	β-thalassaemia	NG_000007.3	70503
2172	-41 A>T	N/A	HBB:c.-91A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70504
18	-32 (C>A)	N/A	HBB:c.-82C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70513
19	-32 (C>T)	N/A	HBB:c.-82C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70513
20	-31 (A>G)	N/A	HBB:c.-81A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70514
21	-31 (A>C)	N/A	HBB:c.-81A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70514
22	-30 (T>A)	N/A	HBB:c.-80T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70515
23	-30 (T>C)	N/A	HBB:c.-80T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70515
2179	-30 T>G	N/A	HBB:c.-80T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70515
3062	-30 (-T)	N/A	HBB:c.-80delT	β	Causative	β-thalassaemia	NG_000007.3	70515
24	-29 to -26 (-AA)	N/A	HBB:c.-79_78delAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70516
25	-29 (A>G)	N/A	HBB:c.-79A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70516
26	-29 (A>C)	N/A	HBB:c.-79A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70516
28	-28 (A>C)	N/A	HBB:c.-78A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70517
29	-28 (A>G)	N/A	HBB:c.-78A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70517
30	-27 (A>T)	N/A	HBB:c.-77A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70518
31	-27 (-AA)	N/A	HBB:c.-77_-76delAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70518
2175	-26 A>C	N/A	HBB:c.-76A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70519
2565	-25 G>T	N/A	HBB:c.-75G>T	β	Causative	β-thalassaemia	NG_000007.3	70520
32	-25 (G>C)	N/A	HBB:c.-75G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70520
282	105 bp deletion	N/A	HBB:c.-74_31del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70521
3926	-17 (A>G)	N/A	HBB:c.-67A>G	β	Causative	β-thalassaemia	NG_000007.3	70528
34	CAP +1 (A>C)	N/A	HBB:c.-50A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70545
3464	CAP +3 A>T	N/A	HBB:c.-48A>T	β	Causative	β-thalassaemia	NG_000007.3	70547
35	CAP +8 (C>T)	N/A	HBB:c.-43C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70552
36	CAP +10 (-T) (5'UTR +10 (-T))	N/A	HBB:c.-41delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70554
3627	CAP +20 (-C)	N/A	HBB:c.-31delC	β	Causative	β-thalassaemia	NG_000007.3	70564
3345	CAP +22 (G>T)	N/A	HBB:c.-29G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70566
38	CAP +22 (G>A)	N/A	HBB:c.-29G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70566
3676	CAP +27 (C>G)	N/A	HBB:c.-24C>G	β	Causative	β-thalassaemia	NG_000007.3	70571
33	-22 to +23 (+45 bp duplication)	N/A	NG_000007.3:g.70573_70617dup	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70573
2536	CAP +30 T>A	N/A	HBB:c.-21T>A	β	Causative	β-thalassaemia	NG_000007.3	70574
4089	CAP +32 (G>C)	N/A	HBB:c.-19G>C	β	Causative	β-thalassaemia	NG_000007.3	70576
39	CAP +33 (C>G)	N/A	HBB:c.-18C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70577
2176	CAP +39 C>T	N/A	HBB:c.-12C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70583
40	CAP +41 to +44 (-AACA) (CAP +40 to +43 (-AAAC))	N/A	HBB:c.-10_-7delAACA	β	Causative	β-thalassaemia	NG_000007.3	70585
41	CAP +45 (G>C)	Hb Odisha	HBB:c.-6G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70589
42	Init CD ATG>GTG	N/A	HBB:c.1A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70595
43	Init CD ATG>CTG	N/A	HBB:c.1A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70595
44	Init CD ATG>ACG	N/A	HBB:c.2T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70596
45	Init CD ATG>AGG	N/A	HBB:c.2T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70596
46	Init CD ATG>AAG	N/A	HBB:c.2T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70596
47	Init CD ATG>ATC	N/A	HBB:c.3G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70597
48	Init CD ATG>ATA	N/A	HBB:c.3G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70597
49	Init CD ATG>ATT	N/A	HBB:c.3G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70597
50	CD 1 (-G)	N/A	HBB:c.4delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70598
790	CD 1 GTG>ATG	Hb South Florida	HBB:c.4G>A	β	Causative	β-chain variant	NG_000007.3	70598
791	CD 1 GTG>TTG	Hb Niigata	HBB:c.4G>T	β	Causative	β-chain variant	NG_000007.3	70598
792	CD 1 GTG>GGG	Hb Watford	HBB:c.5T>G	β	Causative	β-chain variant	NG_000007.3	70599
793	CD 1 GTG>GCG	Hb Raleigh	HBB:c.5T>C	β	Causative	β-chain variant	NG_000007.3	70599
794	CD 1 GTG>GAG	Hb Doha	HBB:c.5T>A	β	Causative	β-chain variant	NG_000007.3	70599
51	CD 2-4 (-9 bp, +31 bp)	N/A	HBB:c.7_15delinsCCTGAGGTGAAGTCTGCCTGAGGAGAAGTCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70601
795	CD 2 CAT>TAT	Hb Fukuoka	HBB:c.7C>T	β	Causative	β-chain variant	NG_000007.3	70601
3437	CD 2 CAT>-AT	Hb Bundelkhand	HBB:c.7delC	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70601
2542	CD 2 CAT>AAT [His>Asn]	Hb Franklin Park	HBB:c.7C>A	β	Causative	β-chain variant	NG_000007.3	70601
3014	CD 2 CAT>C-T	N/A	HBB:c.8delA	β	Causative	β-thalassaemia	NG_000007.3	70602
796	CD 2 CAT>CCT [His>Pro] (Hb Long Island-Marseille, Hb Agrigente)	Hb Marseille	HBB:c.8A>C	β	Causative	β-chain variant	NG_000007.3	70602
797	CD 2 CAT>CTT	Hb Graz	HBB:c.8A>T	β	Causative	β-chain variant	NG_000007.3	70602
799	CD 2 CAT>CGT	Hb Deer Lodge	HBB:c.8A>G	β	Causative	β-chain variant	NG_000007.3	70602
53	CD 2/3 (+T); CD 5 (-C)	Hb Antalya	HBB:c.[9dupT; 17delC]	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70603, 70611
800	CD 2 CAT>CAA or CAG	Hb Okayama	HBB:c.9T>A \| HBB:c.9T>G	β	Causative	β-chain variant	NG_000007.3	70603
3561	CD 2 CAT/CA-	N/A	HBB:c.9delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70603
3794	CD 3 (CTG>AAG) [Leu>Lys]	Hb Jiangnan	HBB:c.10_11delinsAA	β	Causative	β-chain variant	NG_000007.3	70604
2327	CD 3 CTG>ATG [Leu>Met]	Hb Niguarda	HBB:c.10C>A	β	Causative	β-chain variant	NG_000007.3	70604
802	CD 3 CTG>GTG [Leu>Val]	Hb Kamakura	HBB:c.10C>G	β	Causative	β-chain variant	NG_000007.3	70604
52	CD 3 (+T)	N/A	HBB:c.11dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70605
803	CD 3 CTG>CAG [Leu>Gln]	Hb Santo Domingo	HBB:c.11T>A	β	Causative	β-chain variant	NG_000007.3	70605
3878	CD 3 CTG>CGG [Leu>Arg]	Hb Sedgwick	HBB:c.11T>G	β	Causative	β-chain variant	NG_000007.3	70605
2359	CD 3 CTG>CCG [Leu>Pro]	Hb Jabalpur	HBB:c.11T>C	β	Causative	β-chain variant	NG_000007.3	70605
2326	CD 4 ACT>CCT [Thr>Pro]	Hb Benin City	HBB:c.13A>C	β	Causative	β-chain variant	NG_000007.3	70607
804	CD 4 ACT>AAT	Hb Wurzburg	HBB:c.14C>A	β	Causative	β-chain variant	NG_000007.3	70608
3817	CD 4 (-T)	N/A	HBB:c.14delC	β	Causative	β-thalassaemia	NG_000007.3	70608
3949	CD 4 ACT>ATT [Thr>Ile]	Hb Fox Point	HBB:c.14C>T	β	Causative	β-chain variant	NG_000007.3	70608
55	CD 4/5/6: CD 4 (ACT>ACA), CD 5 (CCT>TCT), CD 6 (GAG>TAG)	N/A	HBB:c.[15T>A;16C>T;19G>T]	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70609, 70610, 70613
805	CD 5 CCT>TCT	Hb Tyne	HBB:c.16C>T	β	Causative	β-chain variant	NG_000007.3	70610
806	CD 5 CCT>GCT [Pro>Ala] (Hb Hinchingbrooke)	Hb Gorwihl	HBB:c.16C>G	β	Causative	β-chain variant	NG_000007.3	70610
54	CD 5 -CT	N/A	HBB:c.17_18delCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70611
807	CD 5 CCT>CGT	Hb Warwickshire	HBB:c.17C>G	β	Causative	β-chain variant	NG_000007.3	70611
2321	CD 5 CCT>CTT [Pro>Leu]	Hb Aix-les-Bains	HBB:c.17C>T	β	Causative	β-chain variant	NG_000007.3	70611
2180	CD 5/6 -TG	N/A	HBB:c.18_19delTG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70612
2184	CD 6-14 (-26 bp) (26 bp deletion)	N/A	HBB:c.20_45del26bp	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70613
56	CD 6 (GAG>TAG)	N/A	HBB:c.19G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70613
808	CD 6 GAG>AAG; CD 95 AAG>GAG	Hb Arlington Park	HBB:c.[19G>A;286A>G]	β	Causative	β-chain variant	NG_000007.3	70613
809	CD 6 GAG>AAG [Glu>Lys] and CD 98 GTG>ATG [Val>Met]	Hb Kingsbury	HBB:c.[19G>A ;295G>A]	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70613
810	CD 6 GAG>AAG [Glu>Lys]	HbC	HBB:c.19G>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70613
811	CD 6 GAG>AAG [Glu>Lys]; CD 37 TGG>AGG or CGG [Trp>Arg]	Hb C-Rothschild	HBB:c.[19G>A;112T>A] \| HBB:c.[19G>A;112T>C]	β	Causative	β-chain variant	NG_000007.3	70613, 70836
812	CD 6 GAG>AAG; CD 83 GGC>GAC	Hb C-New Cross	HBB:c.[19G>A;251G>A]	β	Causative	β-chain variant	NG_000007.3	70613
813	CD 6 GAG>CAG	Hb Machida	HBB:c.19G>C	β	Causative	β-chain variant	NG_000007.3	70613
57	CD 6 -A	N/A	HBB:c.20delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70614
58	CD 6 (-G)	N/A	HBB:c.20delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70614
814	CD 6 GAG>GTG	Hb S-South End	HBB:c.[20A>T;399A>C]	β	Causative	β-chain variant	NG_000007.3	70614
815	CD 6 GAG>GTG; CD 23 GTT>ATT	Hb S-Antilles	HBB:c.[20A>T;70G>A]	β	Causative	β-chain variant	NG_000007.3	70614
816	CD 6 GAG>GTG; CD 58 CCT>CGT	Hb C-Ziguinchor	HBB:c.[20A>T;176C>G]	β	Causative	β-chain variant	NG_000007.3	70614
817	CD 6 GAG>GTG; CD 73 GAT>AAT	Hb C-Harlem	HBB:c.[20A>T;220G>A]	β	Causative	β-chain variant	NG_000007.3	70614
818	CD 6 GAG>GTG; CD 82AAG>AAT or AAC	Hb S-Providence	HBB:c.[20A>T;249G>C] \| HBB:c.[20A>T;249G>T]	β	Causative	β-chain variant	NG_000007.3	70614
819	CD 6 GAG>GTG; CD 142 GCC>GTC	Hb S-Travis	HBB:c.[20A>T;428C>T]	β	Causative	β-chain variant	NG_000007.3	70614
820	CD 6 GAG>GTG [Glu>Val]; CD 37 TGG>GGG [Trp>Gly]	Hb C-Ndjamena; Hb S-Northwick	HBB:c.[20A>T;112T>G]	β	Causative	β-chain variant	NG_000007.3	70614, 70836
821	CD 6 GAG>GTG; CD 121 GAA>AAA	Hb S-Oman	HBB:c.[20A>T;364G>A]	β	Causative	β-chain variant	NG_000007.3	70614
822	CD 6 GAG>GTG [Glu>Val], CD 8 AAG>ACG [Lys>Thr]	Hb S-Clichy	HBB:c.[20A>T;26A>C]	β	Causative	β-chain variant	NG_000007.3	70614
823	CD 6 GAG>GTG; CD 90 GAG>AAG	Hb S-Cameroon	HBB:c.[20A>T;271G>A]	β	Causative	β-chain variant	NG_000007.3	70614
824	CD 6 GAG>GTG [Glu>Val] (Sickle-cell)	HbS	HBB:c.20A>T	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70614
825	CD 6 GAG>GTG; CD 68 CTC>TTC	Hb Jamaica Plain	HBB:c.[20A>T;205C>T]	β	Causative	β-chain variant	NG_000007.3	70614
826	CD 6 GAG>GCG	Hb G-Makassar	HBB:c.20A>C	β	Causative	β-chain variant	NG_000007.3	70614
827	CD 6 GAG>GGG [Glu>Gly]	Hb Lavagna	HBB:c.20A>G	β	Causative	β-chain variant	NG_000007.3	70614
2440	CD 6 GAG>GTG [Glu>Val] AND CD 65 AAG>GAG [Lys>Glu]	Hb S-Sao Paulo	HBB:c.[20A>T ;196A>G]	β	Causative	β-chain variant	NG_000007.3	70614, 70920
3324	CD 6 GAG>GTG [Glu>Val]; CD 139 AAT>AGT [Asn>Ser]	Hb S-Wake	HBB:c.[20A>T;419A>G]	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70614, 71993
59	CD 6-10 (-13 bp)	N/A	HBB:c.21_33delGGAGAAGTCTGCC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70615
60	CD 7 GAG>TAG	N/A	HBB:c.22G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70616
828	CD 7 (-GAG) [-Glu] (Hb Xinyi)	Hb Leiden	HBB:c.22_24delGAG	β	Causative	β-chain variant	NG_000007.3	70616
829	CD 7 GAG>AAG	Hb G-Siriraj	HBB:c.22G>A	β	Causative	β-chain variant	NG_000007.3	70616
2400	CD 7 GAG>CAG [Glu>Gln] (Hb Bellevue III)	Hb Vellore	HBB:c.22G>C	β	Causative	β-chain variant	NG_000007.3	70616
2963	CD 7 GAG>GTG [Glu>Val]	Hb Haaglanden	HBB:c.23A>T	β	Causative	β-chain variant	NG_000007.3	70617
3288	CD7 GAG>G-G	N/A	HBB:c.23delA	β	Causative	β-thalassaemia	NG_000007.3	70617
830	CD 7 GAG>GGG	Hb G-San José	HBB:c.23A>G	β	Causative	β-chain variant	NG_000007.3	70617
2382	CD 7 GAG>GAT [Glu>Asp]	Hb Stockholm	HBB:c.24G>T	β	Causative	β-chain variant	NG_000007.3	70618
2958	CD 7/8 (+G)	N/A	HBB:c.24dupG	β	Causative	β-thalassaemia	NG_000007.3	70618
61	CD 8 (-AA)	N/A	HBB:c.25_26delAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70619
831	CD 8 AAG>CAG [Lys>Gln]	Hb J-Luhe	HBB:c.25A>C	β	Causative	β-chain variant	NG_000007.3	70619
832	CD 8 AAG>GAG	Hb N-Timone	HBB:c.25A>G	β	Causative	β-chain variant	NG_000007.3	70619
833	CD 8 AAG>ACG	Hb Rio Grande	HBB:c.26A>C	β	Causative	β-chain variant	NG_000007.3	70620
834	CD 8 AAG>ATG	Hb Nakano	HBB:c.26A>T	β	Causative	β-chain variant	NG_000007.3	70620
835	CD 8 AAG>AGG [Lys>Arg]	Hb Lucknow	HBB:c.26A>G	β	Causative	β-chain variant	NG_000007.3	70620
2185	CD 8/9 +AGAA	N/A	HBB:c.27_28insAGAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70620
3513	CD 8 AAG>AA-	N/A	HBB:c.27delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70621
62	CD 8/9 (+G)	N/A	HBB:c.27dupG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70621
836	CD 8 AAG>AAC	Hb Limassol	HBB:c.27G>C	β	Causative	β-chain variant	NG_000007.3	70621
63	CD 9 (+TA)	N/A	HBB:c.28_29insTA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70622
837	CD 9 TCT>TAT	Hb Brem-sur-Mer	HBB:c.29C>A	β	Causative	β-chain variant	NG_000007.3	70623
838	CD 9 TCT>TGT	Hb Pôrto Alegre	HBB:c.29C>G	β	Causative	β-chain variant	NG_000007.3	70623
839	CD 9 TCT>TAT; CD 121 GAA>CAA	Hb D-Agri	HBB:c.[29C>A;364G>C]	β	Causative	β-chain variant	NG_000007.3	70623
3401	CD 9 TCT>TTT [Ser>Phe]	Hb Hengyang	HBB:c.29C>T	β	Causative	β-chain variant	NG_000007.3	70623
3399	CD 9 TCT>TC-	Hb Antep	HBB:c.30delT	β	Causative	β-chain variant	NG_000007.3	70624
64	CD 9/10 (+T)	Hb Gaziantep	HBB:c.30dupT	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70624
840	CD 10 GCC>ACC [Ala>Thr]	Hb Belleville	HBB:c.31G>A	β	Causative	β-chain variant	NG_000007.3	70625
4108	CD 10 GCC>GTC [Ala>Val]	N/A	HBB:c.31_32insT	β	Causative	β-thalassaemia	NG_000007.3	70625
841	CD 10 GCC>GTC	Hb Iraq-Halabja	HBB:c.32C>T	β	Causative	β-chain variant	NG_000007.3	70626
842	CD 10 GCC>GAC	Hb Ankara	HBB:c.32C>A	β	Causative	β-chain variant	NG_000007.3	70626
65	CD 10 GCC>GCA [Ala>Ala]	N/A	HBB:c.33C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70627
66	CD 10 (-C)	N/A	HBB:c.33delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70627
843	CD 11 GTT>ATT	Hb Hamilton	HBB:c.34G>A	β	Causative	β-chain variant	NG_000007.3	70628
844	CD 11 GTT>TTT	Hb Washtenaw	HBB:c.34G>T	β	Causative	β-chain variant	NG_000007.3	70628
845	CD 11 GTT>ATT; CD 121 GAA>AAA	Hb O-Tibesti	HBB:c.[34G>A;364G>A]	β	Causative	β-chain variant	NG_000007.3	70628
3297	CD 11-13 (-9bp): (-GTTACTGCC)	Hb JC-Paz	HBB:c.34_42delGTTACTGCC	β	Causative	β-chain variant	NG_000007.3	70628
847	CD 11 GTT>GAT	Hb Windsor	HBB:c.35T>A	β	Causative	β-chain variant	NG_000007.3	70629
67	CD 11 (-T)	N/A	HBB:c.36delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70630
2492	CD 12 ACT>CCT [Thr>Pro] (Hb Feilding)	Hb Ashburton	HBB:c.37A>C	β	Causative	β-chain variant	NG_000007.3	70631
2543	CD 12 ACT>ATT [Thr>Ile]	Hb William-Harvey	HBB:c.38C>T	β	Causative	β-chain variant	NG_000007.3	70632
3359	CD 13 GCC>ACC [Ala>Thr] (Hb Chuxiong)	Hb Tower Hamlets	HBB:c.40G>A	β	Causative	β-chain variant	NG_000007.3	70634
848	CD 13 GCC>GAC	Hb J-Lens	HBB:c.41C>A	β	Causative	β-chain variant	NG_000007.3	70635
3248	CD 13 GCC>GTC [Ala>Val]	Hb Yulin	HBB:c.41C>T	β	Causative	β-chain variant	NG_000007.3	70635
3721	CD 14 CTG>-TG	N/A	HBB:c.43delC	β	Causative	β-thalassaemia	NG_000007.3	70637
2553	CD 14 CTG>C-G	N/A	HBB:c.44delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70638
68	CD 14 (+T)	N/A	HBB:c.44dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70638
849	CD 14 CTG>CCG	Hb Saki	HBB:c.44T>C	β	Causative	β-chain variant	NG_000007.3	70638
850	CD 14 CTG>CGG	Hb Sogn	HBB:c.44T>G	β	Causative	β-chain variant	NG_000007.3	70638
69	CD 14/15 (+G)	N/A	HBB:c.45dupG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70639
70	CD 15 (-T)	N/A	HBB:c.46delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70640
851	CD 15 TGG>GGG	Hb Randwick	HBB:c.46T>G	β	Causative	β-chain variant	NG_000007.3	70640
852	CD 15 TGG>AGG or CGG	Hb Belfast	HBB:c.46T>A \| HBB:c.46T>C	β	Causative	β-chain variant	NG_000007.3	70640
72	CD 15 TGG>TAG	N/A	HBB:c.47G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70641
73	CD 15 TGG>TGA	N/A	HBB:c.48G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70642
2464	CD 15 TGG>TGC or TGT [Trp>Cys]	Hb Garston	HBB:c.48G>Y	β	Causative	β-chain variant	NG_000007.3	70642
2374	CD 16 GGC>TGC [Gly>Cys]	Hb Whitmire	HBB:c.49G>T	β	Causative	β-chain variant	NG_000007.3	70643
853	CD 16 GGC>CGC	Hb D-Bushman	HBB:c.49G>C	β	Causative	β-chain variant	NG_000007.3	70643
71	CD 15/16 (+G)	N/A	HBB:c.50dupG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70644
74	CD 15/16 (-G)	N/A	HBB:c.50delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70644
854	CD 16 GGC>GAC (Hb J-Georgia , Hb J-Ireland , Hb J-Trinidad , Hb N-New Haven)	Hb J-Baltimore	HBB:c.50G>A	β	Causative	β-chain variant	NG_000007.3	70644
75	CD 16 GGC>GG-	N/A	HBB:c.51delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70645
76	CD 16 GGC>GGT [Gly>Gly]	N/A	HBB:c.51C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70645
77	CD 17 AAG>TAG [Lys>STOP]	N/A	HBB:c.52A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70646
856	CD 17 AAG>GAG	Hb Nagasaki	HBB:c.52A>G	β	Causative	β-chain variant	NG_000007.3	70646
857	CD 17 AAG>CAG (Hb Nicosia)	Hb Nikosia	HBB:c.52A>C	β	Causative	β-chain variant	NG_000007.3	70646
78	CD 17 (+A)	N/A	HBB:c.53dup	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70647
2298	CD 17 AAG>ATG (Lys>Met)	Hb Ede	HBB:c.53A>T	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70647
855	CD 17-19 (-GGTGAA)	Hb Lyon	HBB:c.54_59del	β	Causative	β-chain variant	NG_000007.3	70648
858	CD 17 AAG>AAC or AAT	Hb J-Amiens	HBB:c.54G>C \| HBB:c.54G>T	β	Causative	β-chain variant	NG_000007.3	70648
859	CD 18 GTG>ATG	Hb Baden	HBB:c.55G>A	β	Causative	β-chain variant	NG_000007.3	70649
3005	CD 18 GTG>CTG [Val>Leu]	Hb Bhubaneswar	HBB:c.55G>C	β	Causative	β-chain variant	NG_000007.3	70649
860	CD 18 GTG>GGG	Hb Sinai-Baltimore	HBB:c.56T>G	β	Causative	β-chain variant	NG_000007.3	70650
861	CD 19 AAC>GAC	Hb Alamo	HBB:c.58A>G	β	Causative	β-chain variant	NG_000007.3	70652
79	CD 19 AAC>AGC [Asn>Ser]	Hb Malay	HBB:c.59A>G	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70653
863	CD 19 AAC>AAA or AAG	Hb D-Ouled Rabah	HBB:c.60C>A \| HBB:c.60C>G	β	Causative	β-chain variant	NG_000007.3	70654
864	CD 20 GTG>ATG	Hb Olympia	HBB:c.61G>A	β	Causative	β-chain variant	NG_000007.3	70655
865	CD 20 GTG>GGG	Hb Uxbridge	HBB:c.62T>G	β	Causative	β-chain variant	NG_000007.3	70656
866	CD 20 GTG>GAG	Hb Trollhättan	HBB:c.62T>A	β	Causative	β-chain variant	NG_000007.3	70656
3609	CD 20/21 (-TGGA)	N/A	HBB:c.62_65delTGGA	β	Causative	β-thalassaemia	NG_000007.3	70656
2974	CD 20 GTG>GCG [Val>Ala]	Hb Howden	HBB:c.62T>C	β	Causative	β-chain variant	NG_000007.3	70656
80	CD 20-22 (GTGGATGAA>GTGAA)	N/A	HBB:c.64_67del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70658
81	CD 20/21 (+G)	N/A	HBB:c.64dupG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70658
867	CD 21 GAT>TAT	Hb Yusa	HBB:c.64G>T	β	Causative	β-chain variant	NG_000007.3	70658
868	CD 21 GAT>CAT	Hb Karlskoga	HBB:c.64G>C	β	Causative	β-chain variant	NG_000007.3	70658
869	CD 21 GAT>AAT	Hb Cocody	HBB:c.64G>A	β	Causative	β-chain variant	NG_000007.3	70658
870	CD 21 GAT>GGT	Hb Connecticut	HBB:c.65A>G	β	Causative	β-chain variant	NG_000007.3	70659
871	CD 21 GAT>GTT	Hb Rocky Mountain	HBB:c.65A>T	β	Causative	β-chain variant	NG_000007.3	70659
83	CD 22 (GAA>TAA)	N/A	HBB:c.67G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70661
873	CD 22 GAA>CAA	Hb D-Iran	HBB:c.67G>C	β	Causative	β-chain variant	NG_000007.3	70661
874	CD 22 GAA>AAA	Hb E-Saskatoon	HBB:c.67G>A	β	Causative	β-chain variant	NG_000007.3	70661
84	CD 22-24 ( -7 bp): (-AAGTTGG)	N/A	HBB:c.68_74delAAGTTGG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70662
875	CD 22 GAA>GTA	Hb D-Granada	HBB:c.68A>T	β	Causative	β-chain variant	NG_000007.3	70662
876	CD 22 GAA>GCA (Hb G-Hsin Chu, Hb G-Saskatoon, Hb G-Taegu)	Hb G-Coushatta	HBB:c.68A>C	β	Causative	β-chain variant	NG_000007.3	70662
877	CD 22 GAA>GGA	Hb G-Taipei	HBB:c.68A>G	β	Causative	β-chain variant	NG_000007.3	70662
872	CD 22-26 (-12bp)	Hb Olinda	HBB:c.69_80delAGTTGGTGGTGA	β	Causative	β-chain variant	NG_000007.3	70663
2330	CD 22 GAA>GAT [Glu>Asp]	Hb Bury	HBB:c.69A>T	β	Causative	β-chain variant	NG_000007.3	70663
879	CD 23 GTT>ATT [Val>Ile]	Hb Saveh	HBB:c.70G>A	β	Causative	β-chain variant	NG_000007.3	70664
880	CD 23 GTT>TTT	Hb Palmerston North	HBB:c.70G>T	β	Causative	β-chain variant	NG_000007.3	70664
4106	CD 23 GTT>TTT; CD 26 GAG>AAG	Hb E-Palmerston North	HBB:c.[70G>T;79G>A]	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70664, 70673
878	CD 23/24 (GTTGGT>GGT)	Hb Freiburg	HBB:c.71_73del	β	Causative	β-chain variant	NG_000007.3	70665
881	CD 23 GTT>GCT	Hb Zoeterwoude	HBB:c.71T>C	β	Causative	β-chain variant	NG_000007.3	70665
882	CD 23 GTT>GGT	Hb Miyashiro	HBB:c.71T>G	β	Causative	β-chain variant	NG_000007.3	70665
883	CD 23 GTT>GAT	Hb Strasbourg	HBB:c.71T>A	β	Causative	β-chain variant	NG_000007.3	70665
885	CD 24 GGT>CGT	Hb Riverdale-Bronx	HBB:c.73G>C	β	Causative	β-chain variant	NG_000007.3	70667
85	CD 24 (-G, +CAC)	N/A	HBB:c.74delinsCAC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70668
886	CD 24 GGT>GAT [Gly>Asp]	Hb Moscva	HBB:c.74G>A	β	Causative	β-chain variant	NG_000007.3	70668
887	CD 24 GGT>GTT	Hb Savannah	HBB:c.74G>T	β	Causative	β-chain variant	NG_000007.3	70668
2174	CD 24 -G	N/A	HBB:c.74delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70668
86	CD 24 GGT>GGA [Gly>Gly]	N/A	HBB:c.75T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70669
281	IVS I [3 end] -44 bp (44 bp deletion)	N/A	HBB:c.76_92+27del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70670
888	CD 25 GGT>CGT	Hb G-Taiwan-Ami	HBB:c.76G>C	β	Causative	β-chain variant	NG_000007.3	70670
2452	CD 25 GGT>AGT [Gly>Ser]	Hb Brazzaville	HBB:c.76G>A	β	Causative	β-chain variant	NG_000007.3	70670
3306	CD 25/26 -GTG [-Gly] (Hb Higashitochigi, Hb HT)	Hb M Dothan	HBB:c.77_79delGTG	β	Causative	β-chain variant	NG_000007.3	70671
889	CD 25 GGT>GAT	Hb J-Auckland	HBB:c.77G>A	β	Causative	β-chain variant	NG_000007.3	70671
87	CD 25/26 (+T)	N/A	HBB:c.78dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70672
88	CD 26 GAG>AAG [Glu>Lys]	HbE	HBB:c.79G>A	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70673
89	CD 26 (GAG>TAG)	N/A	HBB:c.79G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70673
90	CD 26 (+T)	N/A	HBB:c.79_80insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70673
891	CD 26 GAG>AAG, CD 104 AGG>ACG	Hb Corbeil	HBB:c.[79G>A;314G>C]	β	Causative	β-chain variant	NG_000007.3	70673
892	CD 26 GAG>AAG; CD 121 GAA>CAA	Hb T-Cambodia	HBB:c.[79G>A;364G>C]	β	Causative	β-chain variant	NG_000007.3	70673
3035	CD 26 GAG>CAG [Glu>Gln]	Hb King's Mill	HBB:c.79G>C	β	Causative	β-chain variant	NG_000007.3	70673
3409	CD 26 GAG>AAG, IVS I-7 A>G	Hb E-Udon Thani	HBB:c.[79G>A;92+7A>G]	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70673, 70693
3597	CD 26 (GAG>AAG); CD 104 (AGG>GGG)	Hb E-Gurdaspur	HBB:c.[79G>A;313A>G]	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70673, 71037
4023	CD 26 GAG>AAG, IVS I-7 A>T	N/A	HBB:c.[79G>A;92+7A>T]	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70673, 70693
893	CD 26 GAG>GGG	Hb Aubenas	HBB:c.80A>G	β	Causative	β-chain variant	NG_000007.3	70674
894	CD 26 GAG>GCG	Hb Tripoli	HBB:c.80A>C	β	Causative	β-chain variant	NG_000007.3	70674
895	CD 26 GAG>GTG [Glu>Val]	Hb Henri Mondor	HBB:c.80A>T	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70674
2403	CD 26 GAG>GAC or GAT [Glu>Asp]	Hb Marijampolė	HBB:c.81G>Y	β	Causative	β-chain variant	NG_000007.3	70675
91	CD 27 GCC>TCC [Ala>Ser]	Hb Knossos	HBB:c.82G>T	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70676
897	CD 27 GCC>GTC	Hb Grange-Blanche	HBB:c.83C>T	β	Causative	β-chain variant	NG_000007.3	70677
898	CD 27 GCC>GAC	Hb Volga	HBB:c.83C>A	β	Causative	β-chain variant	NG_000007.3	70677
899	CD 27 GCC>GGC [Ala>Gly]	Hb Siirt	HBB:c.83C>G	β	Causative	β-chain variant	NG_000007.3	70677
92	CD 27/28 (+C)	N/A	HBB:c.85dupC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70679
93	CD 28 (-C)	N/A	HBB:c.85delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70679
900	CD 28 CTG>ATG [Leu>Met]	Hb Chile	HBB:c.85C>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70679
94	CD 28 CTG>CGG [Leu >Arg]	Hb Chesterfield	HBB:c.86T>G	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70680
901	CD 28 CTG>CCG [Leu>Pro]	Hb Genova	HBB:c.86T>C	β	Causative	β-chain variant	NG_000007.3	70680
902	CD 28 CTG>CAG [Leu>Gln]	Hb Saint Louis	HBB:c.86T>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70680
904	CD 29 GGC>AGC [Gly>Ser]	Hb Tizi-Ouzou	HBB:c.88G>A	β	Causative	β-chain variant	NG_000007.3	70682
2523	CD 29 GGC>CGC [Gly>Arg]	Hb Dompierre	HBB:c.88G>C	β	Causative	β-chain variant	NG_000007.3	70682
95	CD 28/29 (-G)	N/A	HBB:c.89delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70683
905	CD 29 GGC>GAC	Hb Lufkin	HBB:c.89G>A	β	Causative	β-chain variant	NG_000007.3	70683
96	CD 29 (C>T) or IVS I (-3) GGC>GGT (Gly>Gly)	N/A	HBB:c.90C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70684
97	CD 30 (A>G) or IVS I (-2) AGG>GGG (Arg>Gly)	N/A	HBB:c.91A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70685
98	CD 30 (A>C) or IVS I (-2) AGG>CGG [Arg>Arg]	N/A	HBB:c.91A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70685
3484	CD 30 (-A) or IVS I (-2) AGG>-GG	N/A	HBB:c.91delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70685
3710	CD 30 AGG>TGG [Arg>Trp]	Hb New Berlin	HBB:c.91A>T	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70685
99	CD 30 (G>A) or IVS I (-1) AGG>AAG (Arg>Lys)	N/A	HBB:c.92G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70686
100	CD 30 (G>C) or IVS I (-1) AGG>ACG (Arg>Thr) (Hb Kairouan)	Hb Monroe	HBB:c.92G>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70686
101	IVS I-1 G>A	N/A	HBB:c.92+1G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70687
102	IVS I-1 (G>T)	N/A	HBB:c.92+1G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70687
103	IVS I-1 (G>C)	N/A	HBB:c.92+1G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70687
104	IVS I-2 (T>G)	N/A	HBB:c.92+2T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70688
105	IVS I-2 (T>C)	N/A	HBB:c.92+2T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70688
106	IVS I-2 (T>A)	N/A	HBB:c.92+2T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70688
107	IVS I-5 (G>C)	N/A	HBB:c.92+5G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70691
108	IVS I-5 (G>T)	N/A	HBB:c.92+5G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70691
109	IVS I-5 (G>A)	N/A	HBB:c.92+5G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70691
111	IVS I-6 (T>C)	N/A	HBB:c.92+6T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70692
3565	IVS I-6 (T>G)	N/A	HBB:c.92+6T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70692
112	IVS I-7 A>T	N/A	HBB:c.92+7A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70693
3276	IVS I-7 A>G	N/A	HBB:c.92+7A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70693
3690	IVS I-65 (G>A)	N/A	HBB:c.92+65G>A	β	Causative	β-thalassaemia	NG_000007.3	70751
3066	IVS I-108 T>C	N/A	HBB:c.93-23T>C	β	Causative	β-thalassaemia	NG_000007.3	70794
2173	IVS I-109 (-T)	N/A	HBB:c.93-22delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70795
280	IVS I [3' end] (-25 bp) (25 bp deletion)	N/A	NC_000011.10(NM_000518.4):c.93-22_95del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70795
113	IVS I-110 G>A	N/A	HBB:c.93-21G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70796
121	IVS I [3' end] (-17 bp) (17 bp deletion)	N/A	HBB:c.93-17_93-1delTATTTTCCCACCCTTAG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70800
3008	IVS I-115 (A>T)	N/A	HBB:c.93-16A>T	β	Causative	β-thalassaemia	NG_000007.3	70801
114	IVS I-116 (T>G)	N/A	HBB:c.93-15T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70802
124	IVS I [3' end] (+22bp)	N/A	NG_000007.3:g.70807_70828dup	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70807
115	IVS I-128 (T>G)	N/A	HBB:c.93-3T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70814
116	IVS I-129 (A>C)	N/A	HBB:c.93-2A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70815
117	IVS I-129 (A>G)	N/A	HBB:c.93-2A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70815
4067	IVS I-129 (A>T)	N/A	HBB:c.93-2A>T	β	Causative	β-thalassaemia	NG_000007.3	70815
118	IVS I-130 G>C	N/A	HBB:c.93-1G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70816
119	IVS I-130 (G>A)	N/A	HBB:c.93-1G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70816
120	IVS I-130 (+1) or CD 30, (G>C); AGG>AGC (Arg>Ser)	Hb Tacoma II	HBB:c.93G>C	β	Causative	β-thalassaemia	NG_000007.3	70817
125	CD 30/31 +CGG [+Arg]	N/A	HBB:c.93_94insCGG	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70817
907	CD 30 AGG>AGT [Arg>Ser]	Hb Tacoma	HBB:c.93G>T	β	Causative	β-chain variant	NG_000007.3	70817
126	CD 31 (-C)	N/A	HBB:c.94delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70818
908	CD 31 CTG>GTG	Hb Badalona	HBB:c.94C>G	β	Causative	β-chain variant	NG_000007.3	70818
909	CD 31 CTG>CGG	Hb Hakkari	HBB:c.95T>G	β	Causative	β-chain variant	NG_000007.3	70819
910	CD 31 CTG>CCG	Hb Yokohama	HBB:c.95T>C	β	Causative	β-chain variant	NG_000007.3	70819
911	CD 32 CTG>GTG	Hb Muscat	HBB:c.97C>G	β	Causative	β-chain variant	NG_000007.3	70821
127	CD 32 CTG>CAG: CD 98 GTG>ATG	Hb Medicine Lake	HBB:c.[98T>A; 295G>A]	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70822
912	CD 32 CTG>CCG	Hb Perth	HBB:c.98T>C	β	Causative	β-chain variant	NG_000007.3	70822
913	CD 32 CTG>CAG [Leu>Gln]	Hb Clermont Ferrand	HBB:c.98T>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70822
915	CD 32 CTG>CGG [Leu>Arg]	Hb Castilla	HBB:c.98T>G	β	Causative	β-chain variant	NG_000007.3	70822
916	CD 33 GTG>ATG	Hb Rio Claro	HBB:c.100G>A	β	Causative	β-chain variant	NG_000007.3	70824
3364	CD 33 GTG>TTG [Val>Leu]	Hb Venissieux	HBB:c.100G>T	β	Causative	β-chain variant	NG_000007.3	70824
131	CD 33-35 (-TGGTCT)	Hb Dresden	HBB:c.101_106delTGGTCT	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70825
129	CD 33/34 (GTGGTC>GTC)	Hb Korea	HBB:c.102_104del	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70826
130	CD 33-34 (-G)	N/A	HBB:c.102_103delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70826
919	CD 34 GTC>CTC	Hb Nantes	HBB:c.103G>C	β	Causative	β-chain variant	NG_000007.3	70827
920	CD 34 GTC>TTC	Hb Pitie-Salpetriere	HBB:c.103G>T	β	Causative	β-chain variant	NG_000007.3	70827
921	CD 34 GTC>GAC	Hb Santander	HBB:c.104T>A	β	Causative	β-chain variant	NG_000007.3	70828
3700	CD 34 GTC>GCC [Val>Ala]	Hb San Francisco-KP	HBB:c.104T>C	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70828
3795	CD 35 TAC>GAC [Tyr>Asp]	Hb Oristano	HBB:c.106T>G	β	Causative	β-chain variant	NG_000007.3	70830
2331	CD 35 TAC>CAC [Tyr>His]	Hb Fulwood	HBB:c.106T>C	β	Causative	β-chain variant	NG_000007.3	70830
132	CD 35 TAC>TGC [Tyr>Cys]	N/A	HBB:c.107A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70831
922	CD 35 TAC>TTC [Tyr>Phe]	Hb Philly	HBB:c.107A>T	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70831
133	CD 35 TAC>TAA	N/A	HBB:c.108C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70832
3023	CD 35 TAC>TAG	N/A	HBB:c.108C>G	β	Causative	β-thalassaemia	NG_000007.3	70832
3692	CD 35 (TAC>TA-)	N/A	HBB:c.108delC	β	Causative	β-thalassaemia	NG_000007.3	70832
923	CD 36 CCT>ACT	Hb Linköping	HBB:c.109C>A	β	Causative	β-chain variant	NG_000007.3	70833
924	CD 36 CCT>GCT	Hb Brie Comte Robert	HBB:c.109C>G	β	Causative	β-chain variant	NG_000007.3	70833
925	CD 36 CCT>TCT	Hb North Chicago	HBB:c.109C>T	β	Causative	β-chain variant	NG_000007.3	70833
128	CD 36 CCT>C-T (CD 36 (-C))	N/A	HBB:c.110del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70834
926	CD 36 CCT>CGT [Pro>Arg]	Hb Sunnybrook	HBB:c.110C>G	β	Causative	β-chain variant	NG_000007.3	70834
927	CD 36 CCT>CAT	Hb Vila Real	HBB:c.110C>A	β	Causative	β-chain variant	NG_000007.3	70834
135	CD 36-39 (-8 bp)	N/A	HBB:c.111_118delTTGGACCC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70835
134	CD 36/37 (-T)	N/A	HBB:c.112delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70836
928	CD 37 TGG>AGG [Trp>Arg]	Hb Rothschild	HBB:c.112T>A	β	Causative	β-chain variant	NG_000007.3	70836
929	CD 37 TGG>GGG	Hb Howick	HBB:c.112T>G	β	Causative	β-chain variant	NG_000007.3	70836
138	CD 37 (TGG>TAG)	N/A	HBB:c.113G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70837
930	CD 37 TGG>TCG	Hb Hirose	HBB:c.113G>C	β	Causative	β-chain variant	NG_000007.3	70837
3918	CD 37 TGG>TTG [Trp>Leu]	Hb Alessandria	HBB:c.113G>T	β	Causative	β-chain variant	NG_000007.3	70837
136	CD 37 (-G)	N/A	HBB:c.114delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70838
137	CD 37 (TGG>TGA)	N/A	HBB:c.114G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70838
139	CD 37-39 (-7 bp): (-GACCCAG)	N/A	HBB:c.114_120del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70838
931	CD 37 TGG>TGT [Trp>Cys] (Hb Greendale)	Hb Kent	HBB:c.114G>T	β	Causative	β-chain variant	NG_000007.3	70838
3282	CD 37 TGG>TGC [Trp>Cys] (Hb Kent)	N/A	HBB:c.114G>C	β	Causative	β-chain variant	NG_000007.3	70838
4112	CD 38 ACC>GCC [Thr>Ala]	Hb Oviedo	HBB:c.115A>G	β	Causative	β-chain variant	NG_000007.3	70839
932	CD 38 ACC>CCC	Hb Hazebrouck	HBB:c.115A>C	β	Causative	β-chain variant	NG_000007.3	70839
933	CD 38 ACC>AAC	Hb Hinwil	HBB:c.116C>A	β	Causative	β-chain variant	NG_000007.3	70840
934	CD 38 ACC>ATC	Hb La Coruna	HBB:c.116C>T	β	Causative	β-chain variant	NG_000007.3	70840
2280	CD 38 ACC>AGC	N/A	HBB:c.116C>G	β	Causative	β-chain variant	NG_000007.3	70840
141	CD 38/39 (-CC)	N/A	HBB:c.117_118delCC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70841
140	CD 38/39 (-C)	N/A	HBB:c.118delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70842
142	CD 39 CAG>TAG [Gln>STOP]	N/A	HBB:c.118C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70842
935	CD 39 CAG>AAG	Hb Alabama	HBB:c.118C>A	β	Causative	β-chain variant	NG_000007.3	70842
936	CD 39 CAG>GAG	Hb Vaasa	HBB:c.118C>G	β	Causative	β-chain variant	NG_000007.3	70842
937	CD 39 CAG>CGG [Gln>Arg]	Hb Tianshui	HBB:c.119A>G	β	Causative	β-chain variant	NG_000007.3	70843
2393	CD 39 -A	N/A	HBB:c.119delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70843
2962	CD 39 CAG>CCG [Gln>Pro]	Hb Hyden	HBB:c.119A>C	β	Causative	β-chain variant	NG_000007.3	70843
938	CD 39 CAG>CAC	Hb San Bruno	HBB:c.120G>C	β	Causative	β-chain variant	NG_000007.3	70844
4045	CD 40 AGG>GGG [Arg>Gly]	Hb Montpellier	HBB:c.121A>G	β	Causative	β-chain variant	NG_000007.3	70845
2544	CD 40 AGG>ACG [Arg>Thr]	Hb Alcorn County	HBB:c.122G>C	β	Causative	β-chain variant	NG_000007.3	70846
939	CD 40 AGG>AAG [Arg>Lys]	Hb Athens-GA	HBB:c.122G>A	β	Causative	β-chain variant	NG_000007.3	70846
940	CD 40 AGG>ATG [Arg>Met]	Hb Taipei-Tien	HBB:c.122G>T	β	Causative	β-chain variant	NG_000007.3	70846
143	CD 40 (-G)	N/A	HBB:c.123delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70847
144	CD 40 (+86 bp) (HGSA)	N/A	HBB:c.123_208dup	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70847
941	CD 40 AGG>AGT [Arg>Ser]	Hb Austin	HBB:c.123G>T	β	Causative	β-chain variant	NG_000007.3	70847
3004	CD 41 TTC>GTC [Phe>Val]	Hb Valme	HBB:c.124T>G	β	Causative	β-chain variant	NG_000007.3	70848
145	CD 40/41 (+T)	N/A	HBB:c.125dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70849
942	CD 41 TTC>TGC	Hb Ilmenau	HBB:c.125T>G	β	Causative	β-chain variant	NG_000007.3	70849
943	CD 41 TTC>TCC	Hb Denver	HBB:c.125T>C	β	Causative	β-chain variant	NG_000007.3	70849
944	CD 41 TTC>TAC	Hb Mequon	HBB:c.125T>A	β	Causative	β-chain variant	NG_000007.3	70849
146	CD 41 (-C)	N/A	HBB:c.126delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70850
147	CD 41/42 (-CTTT) (CD 41/42 (-TTCT), CD 41/42 (-TCTT))	N/A	HBB:c.126_129delCTTT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70850
2387	CD 67 GTG>ATG [Val>Met] AND CD 41 TTC>TTG [Phe>Leu]	Hb Brevedent	HBB:c.[202G>A ;126C>G]	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70850
2972	CD 41 TTC>TTA [Phe>Leu]	Hb Wilton	HBB:c.126C>A	β	Causative	β-chain variant	NG_000007.3	70850
2461	CD 42 TTT>ATT [Phe>Ile]	Hb Oslo	HBB:c.127T>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70851
945	CD 42 (-TTT)	Hb Bruxelles	HBB:c.127_129delTTT	β	Causative	β-chain variant	NG_000007.3	70851
947	CD 42 TTT>CTT [Phe>Leu]	Hb Louisville	HBB:c.127T>C	β	Causative	β-chain variant	NG_000007.3	70851
948	CD 42 TTT>GTT (Hb Warsaw)	Hb Sendagi	HBB:c.127T>G	β	Causative	β-chain variant	NG_000007.3	70851
949	CD 42 TTT>TCT [Phe>Ser]	Hb Hammersmith	HBB:c.128T>C	β	Causative	β-chain variant	NG_000007.3	70852
2332	CD 42 TTT>TGT [Phe>Cys]	Hb Little Venice	HBB:c.128T>G	β	Causative	β-chain variant	NG_000007.3	70852
2954	CD 42 TTT>TT-	Hb Yala	HBB:c.129delT	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70853
4079	CD 42 TTT>TTA [Phe>Leu]	Hb Suqian	HBB:c.129T>A	β	Causative	β-chain variant	NG_000007.3	70853
148	CD 42/43 (+T)	N/A	HBB:c.129dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70853
149	CD 42/43 (+G)	N/A	HBB:c.130dupG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70854
150	CD 43 (GAG>TAG)	N/A	HBB:c.130G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70854
950	CD 43 GAG>CAG	Hb Hoshida	HBB:c.130G>C	β	Causative	β-chain variant	NG_000007.3	70854
951	CD 43 GAG>AAG [Glu>Lys]	Hb Hornchurch	HBB:c.130G>A	β	Causative	β-chain variant	NG_000007.3	70854
3594	CD 43 (GAG>TAG);CD 71/72 (+A)	N/A	HBB:c.[130G>T;217dupA]	β	Causative	β-thalassaemia	NG_000007.3	70854, 70941
946	CD 43-46 (-9bp)	Hb Niteroi	HBB:c.131_139del	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70855
952	CD 43 GAG>GGG [Glu>Gly]	Hb Haringey	HBB:c.131A>G	β	Causative	β-chain variant	NG_000007.3	70855
953	CD 43 GAG>GCG	Hb G-Galveston	HBB:c.131A>C	β	Causative	β-chain variant	NG_000007.3	70855
954	CD 44 TCC>TGC	Hb Mississippi	HBB:c.134C>G	β	Causative	β-chain variant	NG_000007.3	70858
3969	CD 44 TCC>TTC [Ser>Phe]	Hb Narges Lab	HBB:c.134C>T	β	Causative	β-chain variant	NG_000007.3	70858
151	CD 44 -C	N/A	HBB:c.135delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70859
2531	CD 45 TTT>GTT [Phe>Val]	Hb Duc Pho	HBB:c.136T>G	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70860
955	CD 45 TTT>TCT	Hb Cheverly	HBB:c.137T>C	β	Causative	β-chain variant	NG_000007.3	70861
956	CD 45 TTT>TAT [Phe>Tyr]	Hb Den Haag	HBB:c.137T>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70861
957	CD 45 TTT>TGT	Hb Arta	HBB:c.137T>G	β	Causative	β-chain variant	NG_000007.3	70861
152	CD 45 (-T)	N/A	HBB:c.138delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70862
153	CD 45 (+T)	N/A	HBB:c.138dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70862
154	CD 45/46 (+A)	N/A	HBB:c.138_139insA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70862
958	CD 46 GGG>AGG	Hb Gainesville-GA	HBB:c.139G>A	β	Causative	β-chain variant	NG_000007.3	70863
3567	CD 46 GGG>CGG [Gly>Arg]	Hb Cenxi	HBB:c.139G>C	β	Causative	β-chain variant	NG_000007.3	70863
959	CD 46 GGG>GAG	Hb K-Ibadan	HBB:c.140G>A	β	Causative	β-chain variant	NG_000007.3	70864
960	CD 47 GAT>AAT [Asp>Asn]	Hb G-Copenhagen	HBB:c.142G>A	β	Causative	β-chain variant	NG_000007.3	70866
961	CD 47 GAT>CAT [Asp>His]	Hb Maryland	HBB:c.142G>C	β	Causative	β-chain variant	NG_000007.3	70866
962	CD 47 GAT>TAT	Hb Maputo	HBB:c.142G>T	β	Causative	β-chain variant	NG_000007.3	70866
2960	CD 46/47 (+G)	N/A	HBB:c.142_142dupG	β	Causative	β-thalassaemia	NG_000007.3	70866
155	CD 47 (+A)	N/A	HBB:c.143dup	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70867
156	CD 47/48 (+ATCT)	N/A	HBB:c.143_146dupATCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70867
963	CD 47 GAT>GCT	Hb Avicenna	HBB:c.143A>C	β	Causative	β-chain variant	NG_000007.3	70867
964	CD 47 GAT>GGT	Hb Gavello	HBB:c.143A>G	β	Causative	β-chain variant	NG_000007.3	70867
965	CD 47 GAT>GTT	Hb Muravera	HBB:c.143A>T	β	Causative	β-chain variant	NG_000007.3	70867
966	CD 48 CTG>CGG	Hb Okaloosa	HBB:c.146T>G	β	Causative	β-chain variant	NG_000007.3	70870
967	CD 48 CTG>CCG	Hb Bab-Saadoun	HBB:c.146T>C	β	Causative	β-chain variant	NG_000007.3	70870
2187	CD 48 -T	N/A	HBB:c.146delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70870
3494	CD 49 TCC>CCC [Ser>Pro]	Hb Yunnan	HBB:c.148T>C	β	Causative	β-chain variant	NG_000007.3	70872
968	CD 49 TCC>TGC	Hb Colima	HBB:c.149C>G	β	Causative	β-chain variant	NG_000007.3	70873
969	CD 49 TCC>TTC	Hb Las Palmas	HBB:c.149C>T	β	Causative	β-chain variant	NG_000007.3	70873
2407	CD 49-55 (-19 bp +4 bp)	Hb Martinez	HBB:c.149_167delinsAGCT	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70873
157	CD 49 (-C)	N/A	HBB:c.150delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70874
970	CD 50 ACT>TCT [Thr>Ser]	Hb Zurich-Langstrasse	HBB:c.151A>T	β	Causative	β-chain variant	NG_000007.3	70875
3571	CD 50 ACT>GCT [Thr>Ala]	N/A	HBB:c.151A>G	β	Causative	β-thalassaemia	NG_000007.3	70875
3940	CD 50 ACT>TCT [Thr>Ser]; IVS II-654 C>T	Hb Zurich-Langstrasse	HBB:c.[151A>T;316-197C>T]	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70875, 71693
971	CD 50 ACT>AAG or AAA	Hb Edmonton	HBB:c.[152C>A;153T>A] \| HBB:c.[152C>A;153T>G]	β	Causative	β-chain variant	NG_000007.3	70876
158	CD 50 (-T)	N/A	HBB:c.153delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70877
972	CD 51 CCT>TCT, CD 52 GAT>AAT	Hb Grenoble	HBB:c.[154C>T;157G>A]	β	Causative	β-chain variant	NG_000007.3	70878
159	CD 51 (-C)	N/A	HBB:c.155delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70879
973	CD 51 CCT>CAT	Hb North Manchester	HBB:c.155C>A	β	Causative	β-chain variant	NG_000007.3	70879
974	CD 51 CCT>CGT	Hb Willamette	HBB:c.155C>G	β	Causative	β-chain variant	NG_000007.3	70879
975	CD 52 GAT>TAT [Asp>Tyr]	Hb Languidic	HBB:c.157G>T	β	Causative	β-chain variant	NG_000007.3	70881
976	CD 52 GAT>CAT	Hb Summer Hill	HBB:c.157G>C	β	Causative	β-chain variant	NG_000007.3	70881
977	CD 52 GAT>AAT	Hb Osu Christiansborg	HBB:c.157G>A	β	Causative	β-chain variant	NG_000007.3	70881
978	CD 52 GAT>GGT	Hb Hokusetsu	HBB:c.158A>G	β	Causative	β-chain variant	NG_000007.3	70882
979	CD 52 GAT>GCT	Hb Ocho Rios	HBB:c.158A>C	β	Causative	β-chain variant	NG_000007.3	70882
980	CD 52 GAT>GTT [Asp>Val]	Hb Akron	HBB:c.158A>T	β	Causative	β-chain variant	NG_000007.3	70882
2959	CD 52 GAT>G-T	N/A	HBB:c.158delA	β	Causative	β-thalassaemia	NG_000007.3	70882
982	CD 53 GCT>ACT	Hb Acharnes	HBB:c.160G>A	β	Causative	β-chain variant	NG_000007.3	70884
2964	CD 53 GCT>GTT [Ala>Val]	Hb Midnapore	HBB:c.161C>T	β	Causative	β-chain variant	NG_000007.3	70885
160	CD 53 (-T)	N/A	HBB:c.162delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70886
161	CD 53/54 (+G)	N/A	HBB:c.163dupG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70887
3368	CD 54 GTT>CTT [Val>Leu]	Hb Askew	HBB:c.163G>C	β	Causative	β-chain variant	NG_000007.3	70887
4094	CD 54 GTT>-TT	N/A	HBB:c.163del	β	Causative	β-thalassaemia	NG_000007.3	70887
983	CD 54 GTT>GAT	Hb Jacksonville	HBB:c.164T>A	β	Causative	β-chain variant	NG_000007.3	70888
162	CD 54 -T	N/A	HBB:c.165delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70889
164	CD 54-58 (-13bp)	N/A	HBB:c.165_177delTATGGGCAACCCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70889
163	CD 54/55 (+A)	N/A	HBB:c.166dupA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70890
165	CD 55 (-A)	N/A	HBB:c.166delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70890
984	CD 55 ATG>AAG	Hb Matera	HBB:c.167T>A	β	Causative	β-chain variant	NG_000007.3	70891
2990	CD 55-59 (-13 bp)	N/A	HBB:c.167_179del	β	Causative	β-thalassaemia	NG_000007.3	70891
985	CD 56 GGC>TGC	Hb Leeds	HBB:c.169G>T	β	Causative	β-chain variant	NG_000007.3	70893
986	CD 56 GGC>CGC	Hb Hamadan	HBB:c.169G>C	β	Causative	β-chain variant	NG_000007.3	70893
987	CD 56 GGC>CGC; CD 86 GCC>CCC	Hb Poissy	HBB:c.[169G>C;259G>C]	β	Causative	β-chain variant	NG_000007.3	70893
166	CD 56-60 (+14 bp)	N/A	HBB:c.170_183dup	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70894
988	CD 56 GGC>GAC (Hb J-Korat , Hb J-Manado , Hb J-Meinung)	Hb J-Bangkok	HBB:c.170G>A	β	Causative	β-chain variant	NG_000007.3	70894
989	CD 56-60 (-12bp)	Hb Tochigi	HBB:c.170_181del	β	Causative	β-chain variant	NG_000007.3	70894
990	CD 57 AAC>CAC [Asn>His]	Hb Sidcup	HBB:c.172A>C	β	Causative	β-chain variant	NG_000007.3	70896
991	CD 57 AAC>GAC	Hb J-Daloa	HBB:c.172A>G	β	Causative	β-chain variant	NG_000007.3	70896
992	CD 57 AAC>ACC [Asn>Thr]	Hb Viseu	HBB:c.173A>C	β	Causative	β-chain variant	NG_000007.3	70897
2333	CD 57 AAC>AGC [Asn>Ser]	Hb Cork	HBB:c.173A>G	β	Causative	β-chain variant	NG_000007.3	70897
993	CD 57 AAC>AAA or AAG	Hb G-Ferrara	HBB:c.174C>A \| HBB:c.174C>G	β	Causative	β-chain variant	NG_000007.3	70898
167	CD 58 (+C)	N/A	HBB:c.176dupC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70900
994	CD 58 CCT>CAT [Pro>His]	Hb Sheffield	HBB:c.176C>A	β	Causative	β-chain variant	NG_000007.3	70900
995	CD 58 CCT>CGT [Pro>Arg]	Hb Dhofar	HBB:c.176C>G	β	Causative	β-chain variant	NG_000007.3	70900
3311	CD 58 CCT>C-T	N/A	HBB:c.176delC	β	Causative	β-thalassaemia	NG_000007.3	70900
2998	CD 59 AAG>CAG [ Lys>Gln]	Hb Hillsborought	HBB:c.178A>C	β	Causative	β-chain variant	NG_000007.3	70902
3061	CD 59 (+T)	N/A	HBB:c.178_179insT	β	Causative	β-thalassaemia	NG_000007.3	70902
169	CD 59 (AAG>TAG)	N/A	HBB:c.178A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70902
996	CD 59 AAG>GAG	Hb I-High Wycombe	HBB:c.178A>G	β	Causative	β-chain variant	NG_000007.3	70902
168	CD 59 -A	N/A	HBB:c.179delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70903
997	CD 59 AAG>ACG [Lys>Thr]	Hb J-Kaohsiung	HBB:c.179A>C	β	Causative	β-chain variant	NG_000007.3	70903
3747	CD 59 AAG>ATG [Lys>Met]	Hb Dahua	HBB:c.179A>T	β	Causative	β-chain variant	NG_000007.3	70903
4086	CD 59 AAG>AA-, CD 59 (-G)	N/A	HBB:c.180del	β	Causative	β-thalassaemia	NG_000007.3	70904
998	CD 59 AAG>AAC or AAT	Hb J-Lome	HBB:c.180G>C \| HBB:c.180G>T	β	Causative	β-chain variant	NG_000007.3	70904
999	CD 60 GTG>CTG [Val>Leu]	Hb Yatsushiro	HBB:c.181G>C	β	Causative	β-chain variant	NG_000007.3	70905
3855	CD 60 GTG>-TG [Val>STOP]	N/A	HBB:c.181delG	β	Causative	β-thalassaemia	NG_000007.3	70905
170	CD 60 GTG>GAG [Val>Glu]	Hb Cagliari	HBB:c.182T>A	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70906
1000	CD 60 GTG>GCG [Leu>Ala]	Hb Collingwood	HBB:c.182T>C	β	Causative	β-chain variant	NG_000007.3	70906
3298	CD 60-61 (-6bp): (-TGAAGG)	Hb Tavapy	HBB:c.182_187delTGAAGG	β	Causative	β-chain variant	NG_000007.3	70906
172	CD 61 (AAG>TAG)	N/A	HBB:c.184A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70908
1002	CD 61 AAG>CAG	Hb Pocos de Caldas	HBB:c.184A>C	β	Causative	β-chain variant	NG_000007.3	70908
1003	CD 61 AAG>GAG	Hb N-Seattle	HBB:c.184A>G	β	Causative	β-chain variant	NG_000007.3	70908
1004	CD 61 AAG>ATG	Hb Bologna	HBB:c.185A>T	β	Causative	β-chain variant	NG_000007.3	70909
1005	CD 61 AAG>AAC or AAT [Lys>Asn]	Hb Hikari	HBB:c.186G>C \| HBB:c.186G>T	β	Causative	β-chain variant	NG_000007.3	70910
1006	CD 62 GCT>CCT	Hb Duarte	HBB:c.187G>C	β	Causative	β-chain variant	NG_000007.3	70911
3589	CD 62-65 (-12bp)	N/A	HBB:c.187_198delGCTCATGGCAAG	β	Causative	β-thalassaemia, Haemolytic anaemia	NG_000007.3	70911
2190	CD 62-83 (+65 bp)	N/A	HBB:c.187_251dup	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70911
1007	CD 62 GCT>GAT	Hb J-Europa	HBB:c.188C>A	β	Causative	β-chain variant	NG_000007.3	70912
3342	CD 62 GCT>GTT [Ala>Val]	Hb Hachioji	HBB:c.188C>T	β	Causative	β-chain variant	NG_000007.3	70912
171	CD 62-64 (-7bp)	N/A	HBB:c.189_195delTCATGGC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70913
1008	CD 63 CAT>AAT [His>Asn]	Hb Haná	HBB:c.190C>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70914
1009	CD 63 CAT>TAT (Hb Hörlein-Weber, Hb Leipzig, Hb M-Arhus, Hb M-Chicago, Hb M-Emory, Hb M-Erlangen, Hb M-Hamburg, Hb M-Hida, Hb M-Kurume, Hb M-Radom, Hb Novi Sad)	Hb M-Saskatoon	HBB:c.190C>T	β	Causative	β-chain variant	NG_000007.3	70914
1010	CD 63 CAT>CCT	Hb Bicêtre	HBB:c.191A>C	β	Causative	β-chain variant	NG_000007.3	70915
1011	CD 63 CAT>CGT [His>Arg] (Hb Zurich)	Hb Zürich	HBB:c.191A>G	β	Causative	β-chain variant	NG_000007.3	70915
2456	CD 63 CAT>CTT [His>Leu]	Hb Temple Street	HBB:c.191A>T	β	Causative	β-chain variant	NG_000007.3	70915
3629	CD 64 GGC>AGC [Gly>Ser]	Hb Hezhou	HBB:c.193G>A	β	Causative	β-chain variant	NG_000007.3	70917
3944	CD 64 (+G)	N/A	HBB:c.194dup	β	Causative	β-thalassaemia	NG_000007.3	70918
173	CD 64 (-G)	N/A	HBB:c.194delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70918
1012	CD 64 GGC>GCC	Hb Aubagne	HBB:c.194G>C	β	Causative	β-chain variant	NG_000007.3	70918
1013	CD 64 GGC>GAC	Hb J-Calabria	HBB:c.194G>A	β	Causative	β-chain variant	NG_000007.3	70918
2976	CD 64 GGC>GTC [Gly>Val]	Hb Calgary	HBB:c.194G>T	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70918
3559	CD 65 AAG>GAG [Lys>Glu]	Hb Guangxi	HBB:c.196A>G	β	Causative	β-chain variant	NG_000007.3	70920
1014	CD 65 AAG>CAG	Hb J-Cairo	HBB:c.196A>C	β	Causative	β-chain variant	NG_000007.3	70920
1016	CD 65 AAG>ATG	Hb J-Antakya	HBB:c.197A>T	β	Causative	β-chain variant	NG_000007.3	70921
1017	CD 65 AAG>AAC or AAT	Hb J-Sicilia	HBB:c.198G>C \| HBB:c.198G>T	β	Causative	β-chain variant	NG_000007.3	70922
174	CD 66 AAA>TAA [Lys>STOP]	N/A	HBB:c.199A>T	β	Causative	β-thalassaemia	NG_000007.3	70923
1018	CD 66 AAA>GAA	Hb I-Toulouse	HBB:c.199A>G	β	Causative	β-chain variant	NG_000007.3	70923
2525	CD 68/69 (+AAAGTGCTC)	Hb Bronx	HBB:c.199_207dupAAAGTGCTC	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70923
3854	CD 66/67 (-AAAG)	N/A	HBB:c.199_202delAAAG	β	Causative	β-thalassaemia	NG_000007.3	70923
3367	CD 66 AAA>ATA [Lys>Ile]	Hb Vigo	HBB:c.200A>T	β	Causative	β-chain variant	NG_000007.3	70924
1019	CD 66 AAA>ACA	Hb Chico	HBB:c.200A>C	β	Causative	β-chain variant	NG_000007.3	70924
1020	CD 66 AAA>AAT	Hb Ulm	HBB:c.201A>T	β	Causative	β-chain variant	NG_000007.3	70925
2188	CD 66 -A	N/A	HBB:c.201delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70925
1021	CD 67 GTG>ATG [Val>Met] (Hb Bristol-Alesha, Hb Bristol)	Hb Alesha	HBB:c.202G>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70926
175	CD 67 (-TG)	N/A	HBB:c.203_204delGT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70927
1023	CD 67 GTG>GGG [Val>Gly]	Hb Manukau	HBB:c.203T>G	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70927
1024	CD 67 GTG>GAG	Hb M-Milwaukee-I	HBB:c.203T>A	β	Causative	β-chain variant	NG_000007.3	70927
1025	CD 67 GTG>GCG	Hb Sydney	HBB:c.203T>C	β	Causative	β-chain variant	NG_000007.3	70927
1029	CD 69 (+GCTCGG)	Hb Nishinomiya	HBB:c.204_209dupGCTCGG	β	Causative	β-chain variant	NG_000007.3	70928
1026	CD 68 CTC>TTC	Hb Loves Park	HBB:c.205C>T	β	Causative	β-chain variant	NG_000007.3	70929
1027	CD 68 CTC>CAC	Hb Brisbane	HBB:c.206T>A	β	Causative	β-chain variant	NG_000007.3	70930
1028	CD 68 CTC>CCC [Leu>Pro]	Hb Mizuho	HBB:c.206T>C	β	Causative	β-chain variant	NG_000007.3	70930
3019	CD 68-70 (-7bp): (-TCGGTGC)	N/A	HBB:c.206_212delTCGGTGC	β	Causative	β-thalassaemia	NG_000007.3	70930
3798	CD 69 GGT>TGT [Gly>Cys]	Hb Miguel Servet	HBB:c.208G>T	β	Causative	β-chain variant	NG_000007.3	70932
1030	CD 69 GGT>AGT	Hb City of Hope	HBB:c.208G>A	β	Causative	β-chain variant	NG_000007.3	70932
1031	CD 69 GGT>CGT	Hb Kenitra	HBB:c.208G>C	β	Causative	β-chain variant	NG_000007.3	70932
1032	CD 69 GGT>GAT	Hb Rambam	HBB:c.209G>A	β	Causative	β-chain variant	NG_000007.3	70933
2522	CD 69 GGT>G-T	N/A	HBB:c.209delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70933
2189	CD 69 -T	N/A	HBB:c.210delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70934
1033	CD 70 GCC>CCC [Ala>Pro]	Hb Abington	HBB:c.211G>C	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70935
3799	CD 70 GCC>ACC [Ala>Thr]	Hb La Mesa	HBB:c.211G>A	β	Causative	β-chain variant	NG_000007.3	70935
1034	CD 70 GCC>GAC	Hb Seattle	HBB:c.212C>A	β	Causative	β-chain variant	NG_000007.3	70936
1035	CD 70 GCC>GGC [Ala>Gly]	Hb Hershey	HBB:c.212C>G	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70936
1036	CD 70 GCC>GTC	Hb Marineo	HBB:c.212C>T	β	Causative	β-chain variant	NG_000007.3	70936
1037	CD 71 TTT>TCT	Hb Christchurch	HBB:c.215T>C	β	Causative	β-chain variant	NG_000007.3	70939
2969	CD 71 TTT>TAT [Phe>Tyr]	Hb Saint-Clair	HBB:c.215T>A	β	Causative	β-chain variant	NG_000007.3	70939
2462	CD 71 -T	N/A	HBB:c.216delT	β	Causative	β-thalassaemia	NG_000007.3	70940
176	CD 71 (+T)	N/A	HBB:c.216dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70940
177	CD 71/72 (+A)	N/A	HBB:c.217dupA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70941
178	CD 72-73 (-AGTGA, +T)	N/A	HBB: c.217_221delAGTGAinsT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70941
2401	CD 72 AGT>ACT [Ser>Thr]	Hb Phimai	HBB:c.218G>C	β	Causative	β-chain variant	NG_000007.3	70942
2181	CD 72/73 (+T)	N/A	HBB:c.219dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70943
3374	CD 72 AGT>AGA [Ser>Arg]; CD 73 GAT>TAT [Asp>Tyr]	Hb South China	HBB:c.[219T>A;220G>T]	β	Causative	β-thalassaemia	NG_000007.3	70943, 70944
1038	CD 72 AGT>AGA	Hb Headington	HBB:c.219T>A	β	Causative	β-chain variant	NG_000007.3	70943
1039	CD 73 GAT>TAT	Hb Vancouver	HBB:c.220G>T	β	Causative	β-chain variant	NG_000007.3	70944
1040	CD 73 GAT>AAT (Hb Korle-Bu)	Hb G-Accra	HBB:c.220G>A	β	Causative	β-chain variant	NG_000007.3	70944
1043	CD 73-75 (-GATGGCCTG; + Ala-Arg-Cys-Gln)	Hb Montreal	HBB:c.220_228delinsGCTCGGTGCCAG	β	Causative	β-chain variant	NG_000007.3	70944
2478	CD 73 GAT>TAT>TTT [Asp>Phe]	Hb Meylan	HBB:c.[220G>T ;221A>T]	β	Causative	β-chain variant	NG_000007.3	70944
1041	CD 73 GAT>GGT	Hb Tilburg	HBB:c.221A>G	β	Causative	β-chain variant	NG_000007.3	70945
1042	CD 73 GAT>GTT	Hb Mobile	HBB:c.221A>T	β	Causative	β-chain variant	NG_000007.3	70945
1045	CD 74 GGC>AGC [Gly>Ser]	Hb Kokomo	HBB:c.223G>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70947
1046	CD 74 GGC>CGC [Gly>Arg]	Hb Aalborg	HBB:c.223G>C	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70947
1044	CD 74-76 (-GCCTGG)	Hb Saint-Antoine	HBB:c.224_229delGCCTGG	β	Causative	β-chain variant	NG_000007.3	70948
1047	CD 74 GGC>GTC	Hb Bushwick	HBB:c.224G>T	β	Causative	β-chain variant	NG_000007.3	70948
1048	CD 74 GGC>GAC	Hb Shepherds Bush	HBB:c.224G>A	β	Causative	β-chain variant	NG_000007.3	70948
179	CD 75 (-C)	N/A	HBB:c.226delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70950
1049	CD 75 (-CTG)	Hb Vicksburg	HBB:c.226_228delCTG	β	Causative	β-chain variant	NG_000007.3	70950
1050	CD 75 CTG>CCG; CD 141 (-CTG)	Hb Atlanta-Coventry	HBB:c.[227T>C;424_426delCTG]	β	Causative	β-chain variant	NG_000007.3	70951
1051	CD 75 CTG>CCG	Hb Atlanta	HBB:c.227T>C	β	Causative	β-chain variant	NG_000007.3	70951
1052	CD 75 CTG>CGG	Hb Pasadena	HBB:c.227T>G	β	Causative	β-chain variant	NG_000007.3	70951
4080	CD 75 CTG>CAG [Leu>Gln]	Hb Raklev	HBB:c.227T>A	β	Causative	β-chain variant	NG_000007.3	70951
180	CD 76 GCT>--T (-GC)	N/A	HBB:c.229_230delGC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70953
1053	CD 76 GCT>CCT	Hb Calais	HBB:c.229G>C	β	Causative	β-chain variant	NG_000007.3	70953
181	CD 76 (-C)	N/A	HBB:c.230delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70954
1054	CD 76 GCT>GTT [Ala>Val]	Hb Harlequin	HBB:c.230C>T	β	Causative	β-chain variant	NG_000007.3	70954
1055	CD 76 GCT>GAT	Hb J-Chicago	HBB:c.230C>A	β	Causative	β-chain variant	NG_000007.3	70954
1056	CD 77 CAC>TAC; CD 80 AAC>AGC	Hb Villeparisis	HBB:c.[232C>T;242A>G]	β	Causative	β-chain variant	NG_000007.3	70956
1057	CD 77 CAC>TAC	Hb Fukuyama	HBB:c.232C>T	β	Causative	β-chain variant	NG_000007.3	70956
1058	CD 77 CAC>GAC	Hb J-Iran	HBB:c.232C>G	β	Causative	β-chain variant	NG_000007.3	70956
2405	CD 77 CAC>AAC [His>Asn]	Hb Heilbronn	HBB:c.232C>A	β	Causative	β-chain variant	NG_000007.3	70956
1059	CD 77 CAC>CTC [His>Leu]	Hb St. Joseph's	HBB:c.233A>T	β	Causative	β-chain variant	NG_000007.3	70957
1060	CD 77 CAC>CGC [His>Arg]	Hb Costa Rica	HBB:c.233A>G	β	Causative	β-chain variant	NG_000007.3	70957
2533	CD 77 CAC>CCC [His>Pro]	Hb Brooklyn	HBB:c.233A>C	β	Causative	β-chain variant	NG_000007.3	70957
1061	CD 77 CAC>CAG	Hb Vienna	HBB:c.234C>G	β	Causative	β-chain variant	NG_000007.3	70958
2422	CD 78 CTG>GTG [Leu>Val]	Hb Ullevaal	HBB:c.235C>G	β	Causative	β-chain variant	NG_000007.3	70959
3299	CD 77/78 (+C)	N/A	HBB:c.235dupC	β	Causative	β-thalassaemia	NG_000007.3	70959
182	CD 78 CTG>-TG	N/A	HBB:c.235delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70959
3371	CD 78 CTG>CCG [Leu>Pro]	Hb Penang	HBB:c.236T>C	β	Causative	β-chain variant	NG_000007.3	70960
1062	CD 78 CTG>CGG	Hb Quin-Hai	HBB:c.236T>G	β	Causative	β-chain variant	NG_000007.3	70960
3225	CD 78/85 (-20bp)	N/A	HBB:c.237_256delGGACAACCTCAAGGGCACCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70961
1063	CD 79 GAC>CAC	Hb Tigraye	HBB:c.238G>C	β	Causative	β-chain variant	NG_000007.3	70962
1064	CD 79 GAC>AAC	Hb Yaizu	HBB:c.238G>A	β	Causative	β-chain variant	NG_000007.3	70962
1065	CD 79 GAC>TAC	Hb Tampa	HBB:c.238G>T	β	Causative	β-chain variant	NG_000007.3	70962
1066	CD 79 GAC>GGC [Asp>Gly]	Hb G-Hsi-Tsou	HBB:c.239A>G	β	Causative	β-chain variant	NG_000007.3	70963
3310	CD 79 GAC>GCC [Asp>Ala]	Hb Torbay	HBB:c.239A>C	β	Causative	β-chain variant	NG_000007.3	70963
3919	CD 79 GAC>GAA [Asp>Glu]	Hb Kalundborg	HBB:c.240C>A	β	Causative	β-chain variant	NG_000007.3	70964
1067	CD 80 AAC>TAC [Asn>Tyr]	Hb Hounslow	HBB:c.241A>T	β	Causative	β-chain variant	NG_000007.3	70965
2307	CD 80 AAC>CAC [Asn>His]	Hb East Timor	HBB:c.241A>C	β	Causative	β-chain variant	NG_000007.3	70965
2391	CD 80 AAC>GAC [Asn>Asp]	Hb Valley Park	HBB:c.241A>G	β	Causative	β-chain variant	NG_000007.3	70965
2445	CD 80 -AAC [-Asn]	Hb Saint-Chamond	HBB:c.241_243delAAC	β	Causative	β-chain variant	NG_000007.3	70965
3392	CD 80 AAC>AGC [Asn>Ser]	Hb Moncloa	HBB:c.242A>G	β	Causative	β-chain variant	NG_000007.3	70966
1068	CD 80 AAC>AAG [Asn>Lys] (Hb Gifu)	Hb G-Szuhu	HBB:c.243C>G	β	Causative	β-chain variant	NG_000007.3	70967
2443	CD 81 CTC>TTC [Leu>Phe]	Hb Seville	HBB:c.244C>T	β	Causative	β-chain variant	NG_000007.3	70968
183	CD 80/81 (-C)	N/A	HBB:c.244delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70968
184	CD 81-87 (-22 bp)	N/A	HBB:c.244_265del22	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70968
1069	CD 81 CTC>CGC	Hb Baylor	HBB:c.245T>G	β	Causative	β-chain variant	NG_000007.3	70969
1070	CD 81 CTC>CAC	Hb La Roche-sur-Yon	HBB:c.245T>A	β	Causative	β-chain variant	NG_000007.3	70969
1071	CD 82 AAG>CAG	Hb Tsurumai	HBB:c.247A>C	β	Causative	β-chain variant	NG_000007.3	70971
1072	CD 82 AAG>GAG	Hb Gàmbara	HBB:c.247A>G	β	Causative	β-chain variant	NG_000007.3	70971
1073	CD 82 AAG>ACG	Hb Rahere	HBB:c.248A>C	β	Causative	β-chain variant	NG_000007.3	70972
1074	CD 82 AAG>ATG	Hb Helsinki	HBB:c.248A>T	β	Causative	β-chain variant	NG_000007.3	70972
1075	CD 82 AAG>AGG	Hb Taradale	HBB:c.248A>G	β	Causative	β-chain variant	NG_000007.3	70972
1076	CD 82 AAG>AAC	Hb Providence	HBB:c.249G>C	β	Causative	β-chain variant	NG_000007.3	70973
1077	CD 83 GGC>CGC [Gly>Arg]	Hb Muskegon	HBB:c.250G>C	β	Causative	β-chain variant	NG_000007.3	70974
1078	CD 83 GGC>TGC [Gly>Cys]	Hb Ta-Li	HBB:c.250G>T	β	Causative	β-chain variant	NG_000007.3	70974
2534	CD 83 GGC>AGC [Gly>Ser]	Hb Basking Ridge	HBB:c.250G>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70974
1079	CD 83 GGC>GAC	Hb Pyrgos	HBB:c.251G>A	β	Causative	β-chain variant	NG_000007.3	70975
185	CD 82/83 (-G)	N/A	HBB:c.251delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70975
186	CD 84-86 (-8 bp): (-CACCTTTG)	N/A	HBB:c.253_260del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70977
1080	CD 84 ACC>GCC	Hb Saale	HBB:c.253A>G	β	Causative	β-chain variant	NG_000007.3	70977
1081	CD 84 ACC>AAC [Thr>Asn]	Hb Beaujolais	HBB:c.254C>A	β	Causative	β-chain variant	NG_000007.3	70978
1082	CD 84 ACC>ATC	Hb Kofu	HBB:c.254C>T	β	Causative	β-chain variant	NG_000007.3	70978
187	CD 84/85 (+C)	N/A	HBB:c.255dupC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70979
3965	CD 84-87 (-CTTTGCCACA) (+TTTTTCTCAG) (Hb Donguan-Dongcheng)	Hb Wanjiang	HBB:c.255_264delinsTTTTTCTCAG	β	Causative	β-chain variant	NG_000007.3	70979
3323	CD 85 TTT>CTT [Phe>Leu]	Hb San Martin	HBB:c.256T>C	β	Causative	β-chain variant	NG_000007.3	70980
1083	CD 85 TTT>TCT (Hb Bryn Mawr)	Hb Buenos Aires	HBB:c.257T>C	β	Causative	β-chain variant	NG_000007.3	70981
2975	CD 85 TTT>TGT [Phe>Cys]	Hb Grantham	HBB:c.257T>G	β	Causative	β-chain variant	NG_000007.3	70981
3586	CD 85 TTT>TTG [Phe>Leu]	Hb Kennisis	HBB:c.258T>G	β	Causative	β-chain variant	NG_000007.3	70982
188	CD 84-86 (+T)	N/A	HBB:c.258dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70982
1084	CD 86 GCC>CCC	Hb Cardarelli	HBB:c.259G>C	β	Causative	β-chain variant	NG_000007.3	70983
1085	CD 86 GCC>ACC>ATC [Ala>Ile]	Hb Nebraska	HBB:c.[259G>A;260C>T]	β	Causative	β-chain variant	NG_000007.3	70983
3065	CD 86 GCC>ACC [Ala>Thr]	Hb Seoul	HBB:c.259G>A	β	Causative	β-chain variant	NG_000007.3	70983
1086	CD 86 GCC>GAC	Hb Olomouc	HBB:c.260C>A	β	Causative	β-chain variant	NG_000007.3	70984
2454	CD 86 GCC>GTC [Ala>Val]	Hb Izmir	HBB:c.260C>T	β	Causative	β-chain variant	NG_000007.3	70984
3722	CD 86 GCC>GC-	N/A	HBB:c.261delC	β	Causative	β-thalassaemia	NG_000007.3	70985
1087	CD 87 (-ACA)	Hb Tours	HBB:c.262_264delACA	β	Causative	β-chain variant	NG_000007.3	70986
1088	CD 87 ACA>CCA	Hb Valletta	HBB:c.262A>C	β	Causative	β-chain variant	NG_000007.3	70986
1089	CD 87 ACA>ATA	Hb Quebec-Chori	HBB:c.263C>T	β	Causative	β-chain variant	NG_000007.3	70987
1090	CD 87 ACA>AAA	Hb D-Ibadan	HBB:c.263C>A	β	Causative	β-chain variant	NG_000007.3	70987
3377	CD 87 ACA>AGA [Thr>Arg]	Hb Saint Jean d Ardieres	HBB:c.263C>G	β	Causative	β-chain variant	NG_000007.3	70987
4044	CD 87-91 (-14 bp)	N/A	HBB:c.263_276del	β	Causative	β-thalassaemia	NG_000007.3	70987
1091	CD 88 CTG>GTG [Leu>Val]	Hb Oofuna	HBB:c.265C>G	β	Causative	β-chain variant	NG_000007.3	70989
3009	CD 88 CTG>ATG [Leu>Met]	Hb NISER	HBB:c.265C>A	β	Causative	β-chain variant	NG_000007.3	70989
3253	CD 88 CTG>--G (HBB:c.265_266delCT)	N/A	HBB:c.265_266del	β	Causative	β-thalassaemia	NG_000007.3	70989
1092	CD 88 CTG>CGG	Hb Borås	HBB:c.266T>G	β	Causative	β-chain variant	NG_000007.3	70990
1093	CD 88 CTG>CCG	Hb Santa Ana	HBB:c.266T>C	β	Causative	β-chain variant	NG_000007.3	70990
189	CD 88 (+T)	N/A	HBB:c.266dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70990
190	CD 88 (-TG)	N/A	HBB:c.266_267del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70990
3287	CD 89-93 (-14bp): (-AGTGAGCTGCACTG)	N/A	HBB:c.268_281delAGTGAGCTGCACTG	β	Causative	β-thalassaemia	NG_000007.3	70992
1095	CD 89 AGT>AAT	Hb Créteil	HBB:c.269G>A	β	Causative	β-chain variant	NG_000007.3	70993
1096	CD 89 AGT>ACT	Hb Villaverde	HBB:c.269G>C	β	Causative	β-chain variant	NG_000007.3	70993
1094	CD 89 AGT>AGR [Ser>Arg]	Hb Vanderbilt	HBB:c.270T>R	β	Causative	β-chain variant	NG_000007.3	70994
2965	CD 89-90 (-TGAG)	Hb Wilde	HBB:c.270_273delTGAG	β	Causative	β-chain variant	NG_000007.3	70994
191	CD 89/90 (AGTGAG>AGAG)	N/A	HBB:c.270_271del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70994
192	CD 90 GAG>TAG	N/A	HBB:c.271G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70995
1097	CD 90 GAG>AAG	Hb Agenogi	HBB:c.271G>A	β	Causative	β-chain variant	NG_000007.3	70995
1118	CD 94/95 +15 bp [+Glu-Leu-His-Cys-Asp]	Hb Fairfax	HBB:c.271_285dupGAGCTGCACTGTGAC	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70995
2491	CD 90 GAG>CAG [Glu>Gln]	Hb Henan	HBB:c.271G>C	β	Causative	β-chain variant	NG_000007.3	70995
3044	CD 90 GAG>-AG	N/A	HBB:c.271delG	β	Causative	β-thalassaemia	NG_000007.3	70995
1098	CD 90 GAG>GGG	Hb Roseau-Pointe a Pitre	HBB:c.272A>G	β	Causative	β-chain variant	NG_000007.3	70996
3057	CD 90 (+24 bp) (+AGCTGCACTGTGACAAGCTGCACG)	N/A	HBB:c.272_295dup	β	Causative	β-thalassaemia	NG_000007.3	70996
3593	CD 90 GAG>GCG [Glu>Ala]	Hb Shenzhen	HBB:c.272A>C	β	Causative	β-chain variant	NG_000007.3	70996
1099	CD 90 GAG>GAC [Glu>Asp]	Hb Pierre-Bénite	HBB:c.273G>C	β	Causative	β-chain variant	NG_000007.3	70997
1124	CD 95/96 (+15 bp)	Hb Koriyama	HBB:c.274_288dup	β	Causative	β-chain variant	NG_000007.3	70998
3133	IVS II-1 G>A and CD 91 CTG>TTG [Leu>Leu]	N/A	HBB:c.[315+1G>A; 274C>T]	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70998, 71040
1101	CD 91 CTG>CCG	Hb Sabine	HBB:c.275T>C	β	Causative	β-chain variant	NG_000007.3	70999
1102	CD 91 CTG>CGG	Hb Caribbean	HBB:c.275T>G	β	Causative	β-chain variant	NG_000007.3	70999
193	CD 91 CTG>C-G	Hb Morgantown	HBB:c.275del	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70999
194	CD 91 (+T)	N/A	HBB:c.275dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70999
1103	CD 92 CAC>GAC	Hb J-Altgeld Gardens	HBB:c.277C>G	β	Causative	β-chain variant	NG_000007.3	71001
1104	CD 92 CAC>TAC (Hb M-Akita, Hb M-Hyde Park)	Hb M-Milwaukee-2	HBB:c.277C>T	β	Causative	β-chain variant	NG_000007.3	71001
1105	CD 92 CAC>AAC	Hb Redondo	HBB:c.277C>A	β	Causative	β-chain variant	NG_000007.3	71001
1106	CD 92 CAC>CCC	Hb Newcastle	HBB:c.278A>C	β	Causative	β-chain variant	NG_000007.3	71002
1107	CD 92 CAC>CGC	Hb Mozhaisk	HBB:c.278A>G	β	Causative	β-chain variant	NG_000007.3	71002
1108	CD 92 CAC>CCC; CD 104 AGG>AGC	Hb Duino	HBB:c.[278A>C;315G>C]	β	Causative	β-chain variant	NG_000007.3	71002, 71039
1109	CD 92 CAC>CAG [His>Gln] (Hb Istanbul)	Hb Saint Etienne	HBB:c.279C>G	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71003
1100	CD 93-97 (-15 bp)	Hb Gun Hill \| Hb GH	HBB:c.280_294delTGTGACAAGCTGCAC	β	Causative	β-chain variant	NG_000007.3	71004
1110	CD 93 TGT>CGT: CD 121 GAA>CAA	Hb Cleveland	HBB:c.[280T>C;364G>C]	β	Causative	β-chain variant	NG_000007.3	71004
1111	CD 93 TGT>CGT	Hb Okazaki	HBB:c.280T>C	β	Causative	β-chain variant	NG_000007.3	71004
1112	CD 93 TGT>TAT	Hb Fort Dodge	HBB:c.281G>A	β	Causative	β-chain variant	NG_000007.3	71005
2442	CD 93 TGT>TCT [Cys>Ser]	Hb Riesa	HBB:c.281G>C	β	Causative	β-chain variant	NG_000007.3	71005
2441	CD 93 TGT>TGG [Cys>Trp]	Hb Santa Giusta Sardegna	HBB:c.282T>G	β	Causative	β-chain variant	NG_000007.3	71006
195	CD 93/94 (+TG)	Hb Agnana	HBB:c.282_283dupTG	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71006
1114	CD 94 GAC>TAC	Hb Geldrop St Anna	HBB:c.283G>T	β	Causative	β-chain variant	NG_000007.3	71007
1115	CD 94 GAC>CAC	Hb Barcelona	HBB:c.283G>C	β	Causative	β-chain variant	NG_000007.3	71007
1116	CD 94 GAC>AAC	Hb Bunbury	HBB:c.283G>A	β	Causative	β-chain variant	NG_000007.3	71007
1117	CD 94 GAC>GGC	Hb Chandigarh	HBB:c.284A>G	β	Causative	β-chain variant	NG_000007.3	71008
1119	CD 95 AAG>GAG (Hb Hopkins-I, Hb Jenkins, Hb N-Memphis, Hb Kenwood)	Hb N-Baltimore	HBB:c.286A>G	β	Causative	β-chain variant	NG_000007.3	71010
2545	CD 95 AAG>CAG [Lys>Gln]	Hb J-Valencia	HBB:c.286A>C	β	Causative	β-chain variant	NG_000007.3	71010
1120	CD 95 AAG>ATG	Hb J-Cordoba	HBB:c.287A>T	β	Causative	β-chain variant	NG_000007.3	71011
196	CD 95 (+A)	N/A	HBB:c.287dupA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71011
1121	CD 95 AAG>AAY [Lys>Asn]	Hb Detroit	HBB:c.288G>Y	β	Causative	β-chain variant	NG_000007.3	71012
1122	CD 96 CTG>GTG	Hb Regina	HBB:c.289C>G	β	Causative	β-chain variant	NG_000007.3	71013
1123	CD 96 CTG>CCG	Hb Debrousse	HBB:c.290T>C	β	Causative	β-chain variant	NG_000007.3	71014
3876	CD 96 CTG>CGG [Leu>Arg]	Hb Laibin	HBB:c.290T>G	β	Causative	β-chain variant	NG_000007.3	71014
3888	CD 97/98 (+GCAC)	N/A	HBB:c.291_294dup	β	Causative	β-thalassaemia	NG_000007.3	71015
1126	CD 97 CAC>TAC	Hb Moriguchi	HBB:c.292C>T	β	Causative	β-chain variant	NG_000007.3	71016
1127	CD 97 CAC>AAC	Hb Santa Clara	HBB:c.292C>A	β	Causative	β-chain variant	NG_000007.3	71016
1125	CD 97/98 (-ACG)	Hb Galicia	HBB:c.293_295delACG	β	Causative	β-chain variant	NG_000007.3	71017
1128	CD 97 CAC>CTC	Hb Wood	HBB:c.293A>T	β	Causative	β-chain variant	NG_000007.3	71017
1129	CD 97 CAC>CCC	Hb Nagoya	HBB:c.293A>C	β	Causative	β-chain variant	NG_000007.3	71017
1130	CD 97 CAC>CAA, also CAC>CAG	Hb Malmö	HBB:c.294C>A \| HBB:c.294C>G	β	Causative	β-chain variant	NG_000007.3	71018
1131	CD 98 GTG>ATG [Val>Met] (Hb San Francisco (Pacific), Hb Ube-1)	Hb Köln	HBB:c.295G>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71019
2413	CD 98 GTG>CTG [Val>Leu]	Hb Phou Bia	HBB:c.295G>C	β	Causative	β-chain variant	NG_000007.3	71019
1132	CD 98 GTG>GGG	Hb Nottingham	HBB:c.296T>G	β	Causative	β-chain variant	NG_000007.3	71020
1133	CD 98 GTG>GAG [Val>Glu]	Hb Mainz	HBB:c.296T>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71020
1134	CD 98 GTG>GCG	Hb Djelfa	HBB:c.296T>C	β	Causative	β-chain variant	NG_000007.3	71020
2966	CD 98/99 (+TG)	Hb Patagonia	HBB:c.296_297dup	β	Causative	β-chain variant	NG_000007.3	71020
1135	CD 99 GAT>TAT	Hb Ypsilanti	HBB:c.298G>T	β	Causative	β-chain variant	NG_000007.3	71022
1136	CD 99 GAT>CAT	Hb Yakima	HBB:c.298G>C	β	Causative	β-chain variant	NG_000007.3	71022
1137	CD 99 GAT>AAT	Hb Kempsey	HBB:c.298G>A	β	Causative	β-chain variant	NG_000007.3	71022
1138	CD 99 GAT>GGT	Hb Hotel-Dieu	HBB:c.299A>G	β	Causative	β-chain variant	NG_000007.3	71023
1139	CD 99 GAT>GCT	Hb Radcliffe	HBB:c.299A>C	β	Causative	β-chain variant	NG_000007.3	71023
1140	CD 99 GAT>GTT	Hb Chemilly	HBB:c.299A>T	β	Causative	β-chain variant	NG_000007.3	71023
1141	CD 99 GAT>GAA [Asp>Glu]	Hb Coimbra	HBB:c.300T>A	β	Causative	β-chain variant	NG_000007.3	71024
1142	CD 100 CCT>GCT [Pro>Ala]	Hb Nice	HBB:c.301C>G	β	Causative	β-chain variant	NG_000007.3	71025
2399	CD 100 CCT>ACT [Pro>Thr]	Hb Bellevue II	HBB:c.301C>A	β	Causative	β-chain variant	NG_000007.3	71025
2412	CD 100 CCT>TCT [Pro>Ser]	Hb Niort	HBB:c.301C>T	β	Causative	β-chain variant	NG_000007.3	71025
198	CD 100 (-CC,+TCTGAGAACTT) >158aa	N/A	HBB:c.301_302delCCinsTCTGAGAACTT	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71025
1143	CD 100 CCT>CGT	Hb New Mexico	HBB:c.302C>G	β	Causative	β-chain variant	NG_000007.3	71026
1144	CD 100 CCT>CTT	Hb Brigham	HBB:c.302C>T	β	Causative	β-chain variant	NG_000007.3	71026
1145	CD 101 GAG>CAG	Hb Rush	HBB:c.304G>C	β	Causative	β-chain variant	NG_000007.3	71028
1146	CD 101 GAG>AAG	Hb British Columbia	HBB:c.304G>A	β	Causative	β-chain variant	NG_000007.3	71028
1147	CD 101 GAG>GGG	Hb Alberta	HBB:c.305A>G	β	Causative	β-chain variant	NG_000007.3	71029
1148	CD 101 GAG>GCG	Hb Youngstown \| Hb St Mary's	HBB:c.305A>C	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71029
2432	CD 101 GAG>GTG [Glu>Val]	Hb Belfort	HBB:c.305A>T	β	Causative	β-chain variant	NG_000007.3	71029
1149	CD 101 GAG>GAC or GAT	Hb Potomac	HBB:c.306G>C \| HBB:c.306G>T	β	Causative	β-chain variant	NG_000007.3	71030
1150	CD 102 AAC>TAC	Hb Saint Mandé	HBB:c.307A>T	β	Causative	β-chain variant	NG_000007.3	71031
1151	CD 102 AAC>CAC [Asn>His]	Hb Canebiere	HBB:c.307A>C	β	Causative	β-chain variant	NG_000007.3	71031
1152	CD 102 AAC>AGC	Hb Beth Israel	HBB:c.308A>G	β	Causative	β-chain variant	NG_000007.3	71032
1153	CD 102 AAC>ACC [Asn>Thr] (Hb Reissmann)	Hb Kansas	HBB:c.308A>C	β	Causative	β-chain variant	NG_000007.3	71032
2279	CD 102 AAC>ATCAC	N/A	HBB:c.308insTC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71032
1154	CD 102 AAC>AAA or AAG	Hb Richmond	HBB:c.309C>A \| HBB:c.309C>G	β	Causative	β-chain variant	NG_000007.3	71033
1155	CD 103 TTC>GTC	Hb Sparta	HBB:c.310T>G	β	Causative	β-chain variant	NG_000007.3	71034
1156	CD 103 TTC>ATC	Hb Saint Nazaire	HBB:c.310T>A	β	Causative	β-chain variant	NG_000007.3	71034
3385	CD 103 TTC>TAC [Phe>Tyr]	Hb Gavle	HBB:c.311T>A	β	Causative	β-chain variant	NG_000007.3	71035
4114	CD 103 TTC>TCC [Phe>Ser]	Hb Koskullskulle	HBB:c.311T>C	β	Causative	β-chain variant	NG_000007.3	71035
1157	CD 103 TTC>TTG	Hb Heathrow	HBB:c.312C>G	β	Causative	β-chain variant	NG_000007.3	71036
1158	CD 104 AGG>TGG	Hb Sainte Eugénie	HBB:c.313A>T	β	Causative	β-chain variant	NG_000007.3	71037
2406	CD 104 AGG>GGG [Arg>Gly]	Hb Nîmes	HBB:c.313A>G	β	Causative	β-chain variant	NG_000007.3	71037
3636	CD 104 (-A)	N/A	HBB:c.313delA	β	Causative	β-thalassaemia	NG_000007.3	71037
1159	CD 104 AGG>ACG	Hb Sherwood Forest	HBB:c.314G>C	β	Causative	β-chain variant	NG_000007.3	71038
1161	CD 104 AGG>AAG	Hb Alzette	HBB:c.314G>A	β	Causative	β-chain variant	NG_000007.3	71038
2411	CD 104 AGG>ATG [Arg>Met]	Hb Bad Salzuflen	HBB:c.314G>T	β	Causative	β-chain variant	NG_000007.3	71038
1162	CD 104 AGG>AGC [Arg>Ser]	Hb Camperdown	HBB:c.315G>C	β	Causative	β-chain variant	NG_000007.3	71039
199	IVS II-1 (-G)	N/A	HBB:c.315+1delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71040
200	IVS II-1 G>A	N/A	HBB:c.315+1G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71040
201	IVS II-1 G>C	N/A	HBB:c.315+1G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71040
202	IVS II-1 G>T	N/A	HBB:c.315+1G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71040
203	IVS II-2 T>C	N/A	HBB:c.315+2T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71041
204	IVS II-2 (T>A)	N/A	HBB:c.315+2T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71041
205	IVS II-2 (-T)	N/A	HBB:c.315+2del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71041
206	IVS II-2/3 (-2 bp, +11 bp) (IVS II-2,3 (+11/-2))	N/A	HBB:c.315+2_315+3delinsACGTTCTCTGA	β	Causative	β-thalassaemia	NG_000007.3	71041
2182	IVS II-2 -TGAGTCTATGGG	N/A	HBB:c.315+2_315+13delTGAGTCTATGGG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71041
3226	IVS II-2 T>G	N/A	HBB:c.315+2T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71041
207	IVS II 4/5 -AG	N/A	NG_000007.3:g.71043_71044delAG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71043
208	IVS II-5 (G>C)	N/A	HBB:c.315+5G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71044
3677	IVS II-15 (C>T)	N/A	HBB:c.315+15C>T	β	Causative	β-thalassaemia	NG_000007.3	71054
3678	IVS II-45 (A>G)	N/A	HBB:c.315+45A>G	β	Causative	β-thalassaemia	NG_000007.3	71084
3681	IVS II-63 (T>C)	N/A	HBB:c.315+63T>C	β	Causative	β-thalassaemia	NG_000007.3	71102
3680	IVS II-70 (G>A)	N/A	HBB:c.315+70G>A	β	Causative	β-thalassaemia	NG_000007.3	71109
3679	IVS II-129 (G>A)	N/A	HBB:c.315+129G>A	β	Causative	β-thalassaemia	NG_000007.3	71168
3977	IVS II-132 G>C	N/A	HBB:c.315+132G>C	β	Causative	β-thalassaemia	NG_000007.3	71171
4040	IVS II-143 G>A	N/A	HBB:c.315+143G>A	β	Causative	β-thalassaemia	NG_000007.3	71182
3682	IVS II-180 (T>C)	N/A	HBB:c.315+180T>C	β	Causative	β-thalassaemia	NG_000007.3	71219
3683	IVS II-308 (-A)	N/A	HBB:c.315+308delA	β	Causative	β-thalassaemia	NG_000007.3	71347
4046	IVS II-337 A>G	N/A	HBB:c.315+337A>G	β	Causative	β-thalassaemia	NG_000007.3	71376
3996	4.9 Kb deletion (NG_000007.3:g.71429_76331del)	N/A	NC_000011.10:g.5226187_5231089del	β	Causative	β-thalassaemia, Ineffective erythropoiesis	NG_000007.3	71429
3797	IVS II-509 (-A)	N/A	HBB:c.316-342delA	β	Causative	β-thalassaemia	NG_000007.3	71548
209	IVS II-535 - CD 108 (+23, -310, +28)	Hb Jambol	HBB:c.[316-300_327delinsCAGGTGCCATCTGTCACCCTTTTCTTTG;316-316_316-315insAATATATTTTTAATATACTTTTT]	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71590
286	619 bp deletion (Asian Indian)	N/A	NG_000007.3:g.71609_72227del619	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71609
210	IVS II-613 (C>T)	N/A	HBB:c.316-238C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71652
3391	IVS II-648/649 (-T)	N/A	HBB:c.316-202del	β	Causative	β-thalassaemia	NG_000007.3	71688
211	IVS II-654 C>T	N/A	HBB:c.316-197C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71693
3866	IVS II-659_664 (-GCAATA)	N/A	HBB:c.316-192_187del	β	Causative	β-thalassaemia	NG_000007.3	71698
3686	IVS II-672 (A>C)	N/A	HBB:c.316-179A>C	β	Causative	β-thalassaemia	NG_000007.3	71711
212	IVS II-705 (T>G)	N/A	HBB:c.316-146T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71744
3796	IVS II-716 (+T)	N/A	HBB:c.316-135dupT	β	Causative	β-thalassaemia	NG_000007.3	71755
213	IVS II-726 A>G	N/A	HBB:c.316-125A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71765
214	IVS II-745 C>G	N/A	HBB:c.316-106C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71784
3928	IVS II-752 T>G	N/A	HBB:c.316-99T>G	β	Causative	β-thalassaemia	NG_000007.3	71791
2200	IVS II-765 L1 insertion (+CTGCTTTTATTTT)	N/A	HBB:c.316-98_316-86dup	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71792
215	IVS II-761 A>G	N/A	HBB:c.316-90A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71800
2183	IVS II-781 C>G	N/A	HBB:c.316-70C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71820
4088	IVS II-786 T>A	N/A	HBB:c.316-65T>A	β	Causative	β-thalassaemia	NG_000007.3	71825
3687	IVS II-806 (G>C)	N/A	HBB:c.316-45G>C	β	Causative	β-thalassaemia	NG_000007.3	71845
3616	IVS II-809 (-G)	N/A	HBB:c.316-42delG	β	Causative	β-thalassaemia	NG_000007.3	71848
216	IVS II-815 (C>T)	N/A	HBB:c.316-36C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71854
3558	IVS II-821 (A>C)	N/A	HBB:c.316-30A>C	β	Causative	β-thalassaemia	NG_000007.3	71860
217	IVS II-837 (T>G)	N/A	HBB:c.316-14T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71876
218	IVS II-843 (T>G)	N/A	HBB:c.316-8T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71882
219	IVS II-844 (C>A)	N/A	HBB:c.316-7C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71883
220	IVS II-844 (C>G)	N/A	HBB:c.316-7C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71883
221	IVS II-848 (C>A)	N/A	HBB:c.316-3C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71887
222	IVS II-848 (C>G)	N/A	HBB:c.316-3C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71887
3045	IVS II-848 C>T	N/A	HBB: c.316-3C>T	β	Causative	β-thalassaemia	NG_000007.3	71887
223	IVS II-849 (A>G)	N/A	HBB:c.316-2A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71888
224	IVS II-849 (A>C)	N/A	HBB:c.316-2A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71888
225	IVS II-850 G>C	N/A	HBB:c.316-1G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71889
226	IVS II-850 (G>A)	N/A	HBB:c.316-1G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71889
227	IVS II-850 (G>T)	N/A	HBB:c.316-1G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71889
228	IVS II-850 (-G)	N/A	HBB:c.316-1delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71889
1163	CD 105 CTC>TTC	Hb South Milwaukee	HBB:c.316C>T	β	Causative	β-chain variant	NG_000007.3	71890
4100	CD 105 CTC>GTC [Leu>Val]	Hb Odder	HBB:c.316C>G	β	Causative	β-chain variant	NG_000007.3	71890
2379	CD 6 GAG>GTG [Glu>Val] AND CD 105 CTC>CCC [Leu>Pro]	Hb S-San Martin	HBB:c.[20A>T ;317T>C]	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71891
2404	CD 105 CTC>CCC [Leu>Pro]	Hb Bellevue IV	HBB:c.317T>C	β	Causative	β-chain variant	NG_000007.3	71891
229	CD 106 (CTG >GTG) Leu to Val (Hb Federico II)	Hb L'Aquila	HBB:c.319C>G	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71893
230	CD 106 CTG>CGG [Leu>Arg]	Hb Terre Haute	HBB:c.320T>G	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71894
1166	CD 106 CTG>CCG [Leu>Pro] (Hb Casper)	Hb Southampton	HBB:c.320T>C	β	Causative	β-chain variant	NG_000007.3	71894
1167	CD 106 CTG>CAG	Hb Tübingen	HBB:c.320T>A	β	Causative	β-chain variant	NG_000007.3	71894
1168	CD 107 GGC>CGC	Hb Burke	HBB:c.322G>C	β	Causative	β-chain variant	NG_000007.3	71896
1169	CD 107 GGC>GAC	Hb Lulu Island	HBB:c.323G>A	β	Causative	β-chain variant	NG_000007.3	71897
2191	CD 107-111 (-12 bp): (-GCAACGTGCTGG)	N/A	HBB:c.323_334del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71897
3309	CD 107 GGC>GTC [Gly>Val]	Hb Nurnberg	HBB:c.323G>T	β	Causative	β-chain variant	NG_000007.3	71897
231	CD 107 (+G)	N/A	HBB:c.323dupG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71897
1170	CD 108 AAC>GAC	Hb Yoshizuka	HBB:c.325A>G	β	Causative	β-chain variant	NG_000007.3	71899
1171	CD 108 AAC>CAC [Asn>His]	Hb Shizuoka	HBB:c.325A>C	β	Causative	β-chain variant	NG_000007.3	71899
1172	CD 108 AAC>ATC	Hb Schlierbach	HBB:c.326A>T	β	Causative	β-chain variant	NG_000007.3	71900
1173	CD 108 AAC>AGC [Asn>Ser] (Hb Serres)	Hb Santa Juana	HBB:c.326A>G	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71900
232	CD 108-112 (-12 bp) Asn-Val-Leu-Val-Cys to Ser	N/A	HBB:c.326_337delACGTGCTGGTCT	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71900
1174	CD 108 AAC>AAA or AAG	Hb Presbyterian	HBB:c.327C>A \| HBB:c.327C>G	β	Causative	β-chain variant	NG_000007.3	71901
1176	CD 109 GTG>CTG or TTG	Hb Johnstown	HBB:c.328G>C \| HBB:c.328G>T	β	Causative	β-chain variant	NG_000007.3	71902
1177	CD 109 GTG>ATG	Hb San Diego	HBB:c.328G>A	β	Causative	β-chain variant	NG_000007.3	71902
233	CD 109 (-G) >156aa	Hb Manhattan	HBB:c.328delG	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71902
4064	CD109/110 (-GCT +CAGCACGATG)	N/A	HBB:c.330_332delinsCAGCACGATG	β	Causative	β-thalassaemia	NG_000007.3	71904
3384	CD 110 CTG>CGG [Leu>Arg]	Hb London-Ontario	HBB:c.332T>G	β	Causative	β-chain variant	NG_000007.3	71906
234	CD 110 CTG>CCG [Leu>Pro]	Hb Showa-Yakushiji	HBB:c.332T>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71906
1179	CD 111 GTC>CTC, CD 119 GGC>GAC	Hb Fannin-Lubbock II	HBB:c.[334G>C;359G>A]	β	Causative	β-chain variant	NG_000007.3	71908
1180	CD 111 GTC>TTC [Val>Phe]	Hb Peterborough	HBB:c.334G>T	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71908
1181	CD 111 GTC>GCC [Val>Ala]	Hb Stanmore	HBB:c.335T>C	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71909
3001	CD 111 GTC>GGC [Val>Gly]	Hb Belluno	HBB:c.335T>G	β	Causative	β-chain variant	NG_000007.3	71909
3024	CD 111-115 (-12bp): (-TCTGTGTGCTGG)	N/A	HBB:c.335_346del	β	Causative	β-thalassaemia	NG_000007.3	71909
4075	CD 111/112 (+C)	N/A	HBB:c.336dup	β	Causative	β-thalassaemia	NG_000007.3	71910
1182	CD 112 TGT>CGT [Cys>Arg]	Hb Indianapolis	HBB:c.337T>C	β	Causative	β-chain variant	NG_000007.3	71911
2434	CD 112 TGT>GGT [Cys>Gly]	Hb Saint-Marcellin	HBB:c.337T>G	β	Causative	β-chain variant	NG_000007.3	71911
1183	CD 112 TGT>TTT	Hb Canterbury	HBB:c.338G>T	β	Causative	β-chain variant	NG_000007.3	71912
1184	CD 112 TGT>TAT	Hb Yahata	HBB:c.338G>A	β	Causative	β-chain variant	NG_000007.3	71912
1195	CD 112-116 (+GTGTGCTGGCCC)	Hb Antibes-Juan-Les-Pins	HBB:c.338_349dupGTGTGCTGGCCC	β	Causative	β-chain variant	NG_000007.3	71912
4105	CD112 TGT>TCT [Cys>Ser]	Hb Jiangxi	HBB:c.338G>C	β	Causative	β-chain variant	NG_000007.3	71912
235	CD 112 (TGT>TGA)	N/A	HBB:c.339T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71913
1185	CD 112 TGT>TGG	Hb Toranomon	HBB:c.339T>G	β	Causative	β-chain variant	NG_000007.3	71913
2192	CD 114/115 (+TGTGCTG)	N/A	HBB:c.339_345dupTGTGCTG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71913
1186	CD 113 GTG>CTG or TTG [Val>Leu]	Hb Champagne	HBB:c.340G>C \| HBB:c.340G>T	β	Causative	β-chain variant	NG_000007.3	71914
236	CD 113 (-G) >156aa	N/A	HBB:c.340delG	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71914
1187	CD 113 GTG>GAG [Val>Glu] (Hb Kaohsiung)	Hb New York	HBB:c.341T>A	β	Causative	β-chain variant	NG_000007.3	71915
1188	CD 114 CTG>ATG; CD 119 GGC>GAC	Hb Masuda	HBB:c.[343C>A;359G>A]	β	Causative	β-chain variant	NG_000007.3	71917
1190	CD 114 CTG>ATG	Hb Zengcheng	HBB:c.343C>A	β	Causative	β-chain variant	NG_000007.3	71917
238	CD 114 (-CT, +G) >156aa	Hb Geneva	HBB:c.343_344delinsG	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71917
237	CD 114 CTG>CCG [Leu>Pro] (Hb Brescia)	Hb Durham-N.C.	HBB:c.344T>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71918
3750	CD 115 GCC>ACC [Ala>Thr]	N/A	HBB:c.346G>A	β	Causative	β-thalassaemia	NG_000007.3	71920
1192	CD 115 GCC>CCC	Hb Madrid	HBB:c.346G>C	β	Causative	β-chain variant	NG_000007.3	71920
1193	CD 115 GCC>GTC [Ala>Val]	Hb Roma	HBB:c.347C>T	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71921
239	CD 115 (GCC>GAC) Ala to Asp	Hb Hradec Kralove (HK)	HBB:c.347C>A	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71921
3308	CD 115-116 (-CC, +G) >156aa	Hb Grand Junction	HBB:c.348_349delinsG	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	71922
1196	CD 116 CAT>TAT	Hb Rhode Island	HBB:c.349C>T	β	Causative	β-chain variant	NG_000007.3	71923
3228	CD 116 CAT>-AT	N/A	HBB:c.349del	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71923
1197	CD 116 CAT>CCT [His>Pro]	Hb Miami	HBB:c.350A>C	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71924
1198	CD 116 CAT>CGT [His>Ala]	Hb Sfax	HBB:c.350A>G	β	Causative	β-chain variant	NG_000007.3	71924
1199	CD 116 CAT>CTT	Hb Vexin	HBB:c.350A>T	β	Causative	β-chain variant	NG_000007.3	71924
240	CD 116 (+TGAT)	N/A	HBB:c.349_350insTGAT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71924
1200	CD 116 CAT>CAA or CAG	Hb Hafnia	HBB:c.351T>A \| HBB:c.351T>G	β	Causative	β-chain variant	NG_000007.3	71925
1201	CD 117 CAC>AAC	Hb Brent	HBB:c.352C>A	β	Causative	β-chain variant	NG_000007.3	71926
1202	CD 117 CAC>TAC	Hb Tsukumi	HBB:c.352C>T	β	Causative	β-chain variant	NG_000007.3	71926
1203	CD 117 CAC>GAC [His>Asp]	Hb North York	HBB:c.352C>G	β	Causative	β-chain variant	NG_000007.3	71926
1204	CD 117 CAC>CGC	Hb P-Galveston	HBB:c.353A>G	β	Causative	β-chain variant	NG_000007.3	71927
1205	CD 117 CAC>CCC	Hb Saitama	HBB:c.353A>C	β	Causative	β-chain variant	NG_000007.3	71927
2193	CD 117 -C	N/A	HBB:c.354delC	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71928
3651	CD 117 CAC>CAG [His>Gln]	Hb Murcia	HBB:c.354C>G	β	Causative	β-chain variant	NG_000007.3	71928
1207	CD 118 TTT>GTT	Hb Sodertalje	HBB:c.355T>G	β	Causative	β-chain variant	NG_000007.3	71929
1208	CD 118 TTT>TGT	Hb Harrow	HBB:c.356T>G	β	Causative	β-chain variant	NG_000007.3	71930
1209	CD 118 TTT>TAT	Hb Minneapolis-Laos	HBB:c.356T>A	β	Causative	β-chain variant	NG_000007.3	71930
2334	CD 118 TTT>TCT [Phe>Ser]	Hb Basingstoke	HBB:c.356T>C	β	Causative	β-chain variant	NG_000007.3	71930
3846	CD 118 (-TT)	N/A	HBB:c.356_357delTT	β	Causative	β-thalassaemia	NG_000007.3	71930
241	CD 118 (-T) > 156aa	Hb Sainte Seve	HBB:c.357delT	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71931
4113	CD 119-121 (+8 bp)	Hb Nanjing	HBB:c.358_365dup	β	Causative	β-thalassaemia	NG_000007.3	71932
2410	CD 119 GGC>CGC [Gly>Arg]	Hb Angouleme	HBB:c.358G>C	β	Causative	β-chain variant	NG_000007.3	71932
2490	CD 119 GGC>AGC [Gly>Ser]	Hb Madison-NC	HBB:c.358G>A	β	Causative	β-chain variant	NG_000007.3	71932
1210	CD 119 GGC>GAC [Gly>Asp]	Hb Fannin-Lubbock I	HBB:c.359G>A	β	Causative	β-chain variant	NG_000007.3	71933
1211	CD 119 GGC>GTC	Hb Bougardirey-Mali	HBB:c.359G>T	β	Causative	β-chain variant	NG_000007.3	71933
1212	CD 119 GGC>GCC	Hb Iowa	HBB:c.359G>C	β	Causative	β-chain variant	NG_000007.3	71933
1213	CD 120 AAA>GAA	Hb Hijiyama	HBB:c.361A>G	β	Causative	β-chain variant	NG_000007.3	71935
1214	CD 120 AAA>CAA	Hb Takamatsu	HBB:c.361A>C	β	Causative	β-chain variant	NG_000007.3	71935
1215	CD 120 AAA>ATA	Hb Jianghua	HBB:c.362A>T	β	Causative	β-chain variant	NG_000007.3	71936
1216	CD 120 AAA>AAC	Hb Riyadh	HBB:c.363A>C	β	Causative	β-chain variant	NG_000007.3	71937
2973	CD 120 AAA>AAT [Lys>Asn]	Hb Belsize Park	HBB:c.363A>T	β	Causative	β-chain variant	NG_000007.3	71937
242	CD 120 -A [156 aa] (CD 120 AAA>AA-)	Hb Filottrano	HBB:c.363delA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71937
243	CD 120/121 (+A)	N/A	HBB:c.363dupA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71937
244	CD 121 GAA>TAA (120aa)	N/A	HBB:c.364G>T	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71938
1217	CD 121 GAA>CAA [Glu>Gln] (Hb D-Chicago, Hb D-North Carolina, Hb D-Portugal, Hb D-Los Angeles, Hb Oak Ridge)	Hb D-Punjab	HBB:c.364G>C	β	Causative	β-chain variant	NG_000007.3	71938
1218	CD 121 GAA>AAA (Hb Egypt, Hb O-Thrace)	Hb O-Arab	HBB:c.364G>A	β	Causative	β-chain variant	NG_000007.3	71938
1219	CD 121 GAA>GCA	Hb D-Neath	HBB:c.365A>C	β	Causative	β-chain variant	NG_000007.3	71939
1220	CD 121 GAA>GGA	Hb St. Francis	HBB:c.365A>G	β	Causative	β-chain variant	NG_000007.3	71939
1221	CD 121 GAA>GTA	Hb Beograd	HBB:c.365A>T	β	Causative	β-chain variant	NG_000007.3	71939
3934	CD 121 GAA>GAC [Glu>Asp]	Hb Westport	HBB:c.366A>C	β	Causative	β-chain variant	NG_000007.3	71940
1015	CD 65 AAG>ATG; CD 122 TTC>CTC or TTG or TTA	Hb Casablanca	HBB:c.[367T>C ; 197A>T] \| HBB:c.[369C>A ; 197A>T] \| HBB:c.[369C>G; 197A>T]	β	Causative	β-chain variant	NG_000007.3	71941
1222	CD 122 TTC>CTC or TTG or TTA	Hb Bushey	HBB:c.367T>C \| HBB:c.369C>A \| HBB:c.369C>G	β	Causative	β-chain variant	NG_000007.3	71941
1223	CD 122 TTC>TCC [Phe>Ser]	Hb Caruaru	HBB:c.368T>C	β	Causative	β-chain variant	NG_000007.3	71942
4022	CD 122 TTC>TGC [Phe>Cys]	Hb Tanah Merah	HBB:c.368T>G	β	Causative	β-chain variant	NG_000007.3	71942
245	CD 123 (-A) >156aa	Hb Makabe	HBB:c.370delA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71944
246	CD 123-125 (-ACCCCACC) >135aa	Hb Khon Kaen	HBB:c.370_378delACCCCACCA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71944
1225	CD 123 ACC>AAC	Hb Ernz	HBB:c.371C>A	β	Causative	β-chain variant	NG_000007.3	71945
1226	CD 123 ACC>ATC	Hb Villejuif	HBB:c.371C>T	β	Causative	β-chain variant	NG_000007.3	71945
1227	CD 124 CCA>TCA	Hb Tunis	HBB:c.373C>T	β	Causative	β-chain variant	NG_000007.3	71947
3556	CD 124 CCA>ACA [Pro>Thr] (Hb Yuxi)	Hb Gibbon	HBB:c.373C>A	β	Causative	β-chain variant	NG_000007.3	71947
3555	CD 124 (+C)	N/A	HBB:c.374dup	β	Causative	β-thalassaemia, Haemolytic anaemia	NG_000007.3	71948
4065	CD 124 (-C)	N/A	HBB:c.374delC	β	Causative	α-thalassaemia	NG_000007.3	71948
1228	CD 124 CCA>CAA	Hb Ty Gard	HBB:c.374C>A	β	Causative	β-chain variant	NG_000007.3	71948
1229	CD 124 CCA>CTA	Hb Tende	HBB:c.374C>T	β	Causative	β-chain variant	NG_000007.3	71948
1230	CD 124 CCA>CGA [Pro>Arg]	Hb Khartoum	HBB:c.374C>G	β	Causative	β-chain variant	NG_000007.3	71948
2194	CD 124/125 (+A)	N/A	HBB:c.375dupA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71949
247	CD 124 (-A) >156aa	N/A	HBB:c.375delA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71949
248	CD 125 (+CCA)	N/A	HBB:c.376_378dupCCA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71950
3227	CD 125-126 (+CCAGT)	N/A	HBB:c.376_380dupCCAGT	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71950
3313	CD 125 CCA>ACA [Pro>Thr]	Hb Novara	HBB:c.376C>A	β	Causative	β-chain variant	NG_000007.3	71950
2195	CD 125-127 (-CAGTGC)	N/A	HBB:c.377_382delCAGTGC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71951
249	CD 125 (-A) >156aa	N/A	HBB:c.378delA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71952
1231	CD 126 GTG>CTG	Hb Molfetta	HBB:c.379G>C	β	Causative	β-chain variant	NG_000007.3	71953
3563	CD 126 GTG>-TG	N/A	HBB:c.379delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71953
250	CD 126 (-T) >156aa	Hb Vercelli	HBB:c.380delT	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71954
252	CD 126-131 (-17 bp)	Hb Westdale	HBB:c.380_396delTGCAGGCTGCCTATCAG	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	71954
1233	CD 126 GTG>GCG	Hb Beirut	HBB:c.380T>C	β	Causative	β-chain variant	NG_000007.3	71954
1234	CD 126 GTG>GAG	Hb Hofu	HBB:c.380T>A	β	Causative	β-chain variant	NG_000007.3	71954
1235	CD 126 GTG>GGG [Val>Gly] (Hb Neapolis)	Hb Dhonburi	HBB:c.380T>G	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71954
1236	CD 127 CAG>AAG	Hb Brest	HBB:c.382C>A	β	Causative	β-chain variant	NG_000007.3	71956
1237	CD 127 CAG>GAG	Hb Complutense	HBB:c.382C>G	β	Causative	β-chain variant	NG_000007.3	71956
4087	CD 128-134 (-21bp): (-CAGGCTGCCTATCAGAAAGTG)	N/A	HBB:c.382_402del	β	Causative	β-thalassaemia	NG_000007.3	71956
255	CD 127 CAG>TAG [Gln>STOP]	N/A	HBB:c.382C>T	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71956
253	CD 127 (CAG>CCG) Gln to Pro	Hb Houston	HBB:c.383A>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71957
254	CD 127 CAG>CGG [Gln>Arg]	Hb Dieppe	HBB:c.383A>G	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71957
256	CD 127/128 -AGG [Glu-Ala>Pro]	Hb Gunma	HBB:c.383_385delAGG	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71957
257	CD 128/129 (-4, +5, -11 bp) >153aa	N/A	HBB:c.[385_388delinsCCACA;397_407delAAAGTGGTGGC]	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71959
1241	CD 128 GCT>CCT	Hb Mont Saint Aignan	HBB:c.385G>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71959
3927	CD 128 GCT>-CT	N/A	HBB:c.385delG	β	Causative	β-thalassaemia	NG_000007.3	71959
1242	CD 128 GCT>GTT	Hb Sitia	HBB:c.386C>T	β	Causative	β-chain variant	NG_000007.3	71960
1243	CD 128 GCT>GAT [Ala>Asp]	Hb J-Guantanamo	HBB:c.386C>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71960
1244	CD 129 GCC>CCC	Hb Crete	HBB:c.388G>C	β	Causative	β-chain variant	NG_000007.3	71962
1245	CD 129 GCC>GTC [Ala>Val]	Hb La Desirade	HBB:c.389C>T	β	Causative	β-chain variant	NG_000007.3	71963
1246	CD 129 GCC>GAC [Ala>Asp] (Hb K-Cameroon)	Hb J-Taichung	HBB:c.389C>A	β	Causative	β-chain variant	NG_000007.3	71963
3951	CD 129-133 (-CCTATCAGAAAGT)	Hb Phoenix	HBB:c.389_401del	β	Causative	β-chain variant	NG_000007.3	71963
1248	CD 130 TAT>GAT	Hb Wien	HBB:c.391T>G	β	Causative	β-chain variant	NG_000007.3	71965
1249	CD 130 TAT>TGT [Tyr>Cys]	Hb Montfermeil	HBB:c.392A>G	β	Causative	β-chain variant	NG_000007.3	71966
1250	CD 130 TAT>TCT	Hb Nevers	HBB:c.392A>C	β	Causative	β-chain variant	NG_000007.3	71966
2196	CD 130 TAT>TAA [Tyr>STOP]	N/A	HBB:c.393T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71967
3860	CD 130 TAT>TAG [Tyr>STOP]	N/A	HBB:c.393T>G	β	Causative	β-thalassaemia	NG_000007.3	71967
258	CD 131 (CAG>TAG)	N/A	HBB:c.394C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71968
1251	CD 131 CAG>GAG	Hb Camden	HBB:c.394C>G	β	Causative	β-chain variant	NG_000007.3	71968
1252	CD 131 CAG>AAG	Hb Shelby	HBB:c.394C>A	β	Causative	β-chain variant	NG_000007.3	71968
1253	CD 131 CAG>CGG	Hb Sarrebourg	HBB:c.395A>G	β	Causative	β-chain variant	NG_000007.3	71969
1254	CD 131 CAG>CCG	Hb Shanghai	HBB:c.395A>C	β	Causative	β-chain variant	NG_000007.3	71969
2197	CD 131 (+A)	N/A	HBB:c.395dupA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71969
1255	CD 131 CAG>CAC	Hb Silver Springs	HBB:c.396G>C	β	Causative	β-chain variant	NG_000007.3	71970
259	CD 131/132 (+GCCT)	N/A	HBB:c.396_397insGCCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71970
260	CD 131-132 (-GA) >138aa	N/A	HBB:c.396_397delGA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71970
261	CD 131-134 (-11bp) >134aa	N/A	HBB:c.396_406del	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71970
262	CD 132 (AAA>TAA)	N/A	HBB:c.397A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71971
1256	CD 132 AAA>GAA [Lys>Glu]	Hb Takasago	HBB:c.397A>G	β	Causative	β-chain variant	NG_000007.3	71971
1257	CD 132 AAA>CAA [Lys>Gln]	Hb K Woolwich	HBB:c.397A>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71971
1258	CD 132 AAA>ACA	Hb Cook	HBB:c.398A>C	β	Causative	β-chain variant	NG_000007.3	71972
1259	CD 132 AAA>AAC, also AAA>AAT	Hb Yamagata	HBB:c.399A>C \| HBB:c.399A>T	β	Causative	β-chain variant	NG_000007.3	71973
3896	CD 132 (AAA>AA-)	N/A	HBB:c.399del	β	Causative	β-thalassaemia	NG_000007.3	71973
3375	CD 133 GTG>TTG [Val>Leu]	Hb Miringa	HBB:c.400G>T	β	Causative	β-chain variant	NG_000007.3	71974
1260	CD 133 GTG>CTG	Hb Extremadura	HBB:c.400G>C	β	Causative	β-chain variant	NG_000007.3	71974
1261	CD 133 GTG>ATG [Val>Met]	Hb La Pommeraie	HBB:c.400G>A	β	Causative	β-chain variant	NG_000007.3	71974
1262	CD 133 GTG>GCG	Hb Renert	HBB:c.401T>C	β	Causative	β-chain variant	NG_000007.3	71975
1263	CD 134 GTG>GCG	Hb Yaounde	HBB:c.404T>C	β	Causative	β-chain variant	NG_000007.3	71978
1264	CD 134 GTG>GAG	Hb North Shore	HBB:c.404T>A	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71978
2389	CD 134 GTG>GGG [Val>Gly]	Hb Olupona	HBB:c.404T>G	β	Causative	β-chain variant	NG_000007.3	71978
263	CD 134-137 (-12, +6 bp) Val-Ala-Gly-Val to Gly-Arg	N/A	HBB:c.404_413delinsGCAG	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71978
1265	CD 135 GCT>CCT [Ala>Pro]	Hb Altdorf	HBB:c.406G>C	β	Causative	β-chain variant	NG_000007.3	71980
2537	CD 135 GCT>ACT [Ala>Thr]	Hb Calvino	HBB:c.406G>A	β	Causative	β-chain variant	NG_000007.3	71980
1266	CD 135 GCT>GAT [Ala>Asp]	Hb Beckman	HBB:c.407C>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71981
1267	CD 135 GCT>GTT [Ala>Val]	Hb Alperton	HBB:c.407C>T	β	Causative	β-chain variant	NG_000007.3	71981
3249	CD 135 GCT>GC-	Hb Urumqi	HBB:c.408delT	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71982
1268	CD 136 GGT>TGT [Gly>Cys]	Hb Visayan	HBB:c.409G>T	β	Causative	β-chain variant	NG_000007.3	71983
1269	CD 136 GGT>AGT [Gly>Ser]	Hb Perpignan	HBB:c.409G>A	β	Causative	β-chain variant	NG_000007.3	71983
1270	CD 136 GGT>CGT	Hb 'tlangeland	HBB:c.409G>C	β	Causative	β-chain variant	NG_000007.3	71983
1271	CD 136 GGT>GCT [Gly>Ala]	Hb Petit Bourg	HBB:c.410G>C	β	Causative	β-chain variant	NG_000007.3	71984
1272	CD 136 GGT>GAT	Hb Hope	HBB:c.410G>A	β	Causative	β-chain variant	NG_000007.3	71984
3847	CD 136 GGT>GTT [Gly>Val]	Hb Bourg-en-Bresse	HBB:c.410G>T	β	Causative	β-chain variant	NG_000007.3	71984
3034	CD 137 GTG>TGG [Val>Trp]	Hb Allentown	HBB:c.412_413delinsTG	β	Causative	β-chain variant	NG_000007.3	71986
264	CD 137-139 (-TGGCTA) Val-Ala-Asn to Asp	Hb Stara Zagora	HBB:c.413_418delTGGCTA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71987
1274	CD 138 GCT>CCT [Ala>Pro]	Hb Brockton	HBB:c.415G>C	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71989
1275	CD 138 GCT>ACT	Hb Buzen	HBB:c.415G>A	β	Causative	β-chain variant	NG_000007.3	71989
1276	CD 138 GCT>GTT [Ala>Val]	Hb Cutlerville	HBB:c.416C>T	β	Causative	β-chain variant	NG_000007.3	71990
3361	CD 138/139 (+T)	N/A	HBB:c.417dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71991
3370	CD 140 GCC>ACC [Ala>Thr] AND CD 139 (-AAT)	Hb Templeuve	HBB:c.[421G>A;418_420delAAT]	β	Causative	β-chain variant	NG_000007.3	71992, 71995
1277	CD 139 AAT>TAT	Hb Aurora	HBB:c.418A>T	β	Causative	β-chain variant	NG_000007.3	71992
1278	CD 139 AAT>GAT	Hb Geelong	HBB:c.418A>G	β	Causative	β-chain variant	NG_000007.3	71992
1279	CD 139 AAT>TAT [Asn>Tyr]; CD 138 (-GCT) [-Ala] (Hb Nykerk)	Hb Nijkerk	HBB:c.[418A>T;415_417delGCT]	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71992
2994	CD 139 AAT>CAT [Asn>His]	Hb Bermondsey	HBB:c.418A>C	β	Causative	β-chain variant	NG_000007.3	71992
1280	CD 139 AAT>ACT	Hb Sagami	HBB:c.419A>C	β	Causative	β-chain variant	NG_000007.3	71993
3388	CD 139 AAT>AGT [Asn>Ser]	Hb Emilia	HBB:c.419A>G	β	Causative	β-chain variant	NG_000007.3	71993
1281	CD 139 AAT>AAR [Asn>Lys]	Hb Hinsdale	HBB:c.420T>R	β	Causative	β-chain variant	NG_000007.3	71994
2282	CD 139/140 +T [163 aa]	Hb Boston-Kuwait	HBB:c.420dupT	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71994
1282	CD 140 GCC>ACC	Hb Saint-Jacques	HBB:c.421G>A	β	Causative	β-chain variant	NG_000007.3	71995
1283	CD 140 GCC>GAC [Ala>Asp]	Hb Himeji	HBB:c.422C>A	β	Causative	β-chain variant	NG_000007.3	71996
1284	CD 140 GCC>GTC	Hb Puttelange	HBB:c.422C>T	β	Causative	β-chain variant	NG_000007.3	71996
1285	CD 141 CTG>GTG; CD 144 AAG>TAG	Hb Kochi	HBB:c.[424C>G;433A>T]	β	Causative	β-chain variant	NG_000007.3	71998
1287	CD 141 (-CTG)	Hb Coventry	HBB:c.424_426delCTG	β	Causative	β-chain variant	NG_000007.3	71998
2284	CD 141 CTG>GGG	Hb Aurillac	HBB:c.424C>G	β	Causative	β-chain variant	NG_000007.3	71998
265	CD 141 (-C) >156aa	Hb Florida	HBB:c.424delC	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71998
3980	CD 141 CTG>CCG [Leu>Pro]	Hb Yoshkar-Ola	HBB:c.425T>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia	NG_000007.3	71999
1288	CD 141-144 (-TGGCCCACA)	Hb Birmingham	HBB:c.425_433delTGGCCCACA	β	Causative	β-chain variant	NG_000007.3	71999
1289	CD 141 CTG>CGG	Hb Olmsted	HBB:c.425T>G	β	Causative	β-chain variant	NG_000007.3	71999
1291	CD 142 GCC>ACC	Hb Inglewood	HBB:c.427G>A	β	Causative	β-chain variant	NG_000007.3	72001
1292	CD 142 GCC>CCC	Hb Toyoake	HBB:c.427G>C	β	Causative	β-chain variant	NG_000007.3	72001
1293	CD 142 GCC>GAC	Hb Ohio	HBB:c.428C>A	β	Causative	β-chain variant	NG_000007.3	72002
2297	CD 142 GCC>GTC (Ala>Val)	Hb Waterland	HBB:c.428C>T	β	Causative	β-chain variant	NG_000007.3	72002
1290	CD 142 (-CC)	Hb Uzes	HBB:c.429_430delCC	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72003
1295	CD 143 CAC>GAC	Hb Rancho Mirage	HBB:c.430C>G	β	Causative	β-chain variant	NG_000007.3	72004
1296	CD 143 CAC>AAC [His>Asn]	Hb Sapporo	HBB:c.430C>A	β	Causative	β-chain variant	NG_000007.3	72004
1297	CD 143 CAC>TAC	Hb Old Dominion/Burton-upon-Trent (OD/BuT)	HBB:c.430C>T	β	Causative	β-chain variant	NG_000007.3	72004
2024	CD 143 (-C)	Hb Montreal II	HBB:c.430delC	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72004
1294	CD 143 (-A)	Hb Saverne	HBB:c.431delA	β	Causative	β-chain variant	NG_000007.3	72005
1298	CD 143 CAC>CTC [His>Leu]	Hb Vancleave	HBB:c.431A>T	β	Causative	β-chain variant	NG_000007.3	72005
1299	CD 143 CAC>CGC	Hb Abruzzo	HBB:c.431A>G	β	Causative	β-chain variant	NG_000007.3	72005
1300	CD 143 CAC>CCC	Hb Syracuse	HBB:c.431A>C	β	Causative	β-chain variant	NG_000007.3	72005
1301	CD 143 CAC>CAA or CAG [His>Gln]	Hb Little Rock	HBB:c.432C>A \| HBB:c.432C>G	β	Causative	β-chain variant	NG_000007.3	72006
1303	CD 144 AAG>GAG	Hb Mito	HBB:c.433A>G	β	Causative	β-chain variant	NG_000007.3	72007
2364	CD 144 AAG>TAG	Hb Cambridge-MA	HBB:c.433A>T	β	Causative	β-chain variant	NG_000007.3	72007
1302	CD 144 (-A)	Hb Trento	HBB:c.434delA	β	Causative	β-chain variant	NG_000007.3	72008
1304	CD 144 AAG>ATG	Hb Barbizon	HBB:c.434A>T	β	Causative	β-chain variant	NG_000007.3	72008
2961	CD 144 AAG>ACG [Lys>Thr]	Hb San Cataldo	HBB:c.434A>C	β	Causative	β-chain variant	NG_000007.3	72008
3325	CD 144 AAG>AGG [Lys>Arg]	Hb Heze	HBB:c.434A>G	β	Causative	β-chain variant	NG_000007.3	72008
1305	CD 144 AAG>AAT or AAC	Hb Andrew-Minneapolis	HBB:c.435G>C \| HBB:c.435G>T	β	Causative	β-chain variant	NG_000007.3	72009
1306	CD 145 (+CT)	Hb Cranston	HBB:c.436_437insCT	β	Causative	β-chain variant	NG_000007.3	72010
1307	CD 145 TAT>AAT	Hb Osler	HBB:c.436T>A	β	Causative	β-chain variant	NG_000007.3	72010
1308	CD 145 TAT>CAT	Hb Bethesda	HBB:c.436T>C	β	Causative	β-chain variant	NG_000007.3	72010
1309	CD 145 TAT>GAT	Hb Nancy	HBB:c.436T>G	β	Causative	β-chain variant	NG_000007.3	72010
1310	CD 145 TAT>TGT	Hb Rainier	HBB:c.437A>G	β	Causative	β-chain variant	NG_000007.3	72011
1311	CD 145 TAT>TAA	Hb McKees Rocks	HBB:c.438T>A	β	Causative	β-chain variant	NG_000007.3	72012
1312	CD 146 CAC>GAC	Hb Hiroshima	HBB:c.439C>G	β	Causative	β-chain variant	NG_000007.3	72013
1313	CD 146 CAC>TAC	Hb Bologna-St.Orsola	HBB:c.439C>T	β	Causative	β-chain variant	NG_000007.3	72013
3398	CD 146 CAC>AAC [His>Asn]	Hb Pusan	HBB:c.439C>A	β	Causative	β-chain variant	NG_000007.3	72013
1314	CD 146 CAC>CCC	Hb York	HBB:c.440A>C	β	Causative	β-chain variant	NG_000007.3	72014
1315	CD 146 CAC>CTC	Hb Cowtown	HBB:c.440A>T	β	Causative	β-chain variant	NG_000007.3	72014
1316	CD 146 CAC>CGC	Hb Cochin-Port Royal	HBB:c.440A>G	β	Causative	β-chain variant	NG_000007.3	72014
1319	CD 146/147 (+AC)	Hb Tak	HBB:c.440_441dupAC	β	Causative	β-chain variant	NG_000007.3	72014
1317	CD 146 CAC>CAG	Hb Kodaira II	HBB:c.441C>G	β	Causative	β-chain variant	NG_000007.3	72015
1318	CD 146 CAC>CAA	Hb Kodaira	HBB:c.441C>A	β	Causative	β-chain variant	NG_000007.3	72015
1320	CD 147 (+TA)	Hb Monplaisir	HBB:c.442_443dupTA	β	Causative	β-chain variant	NG_000007.3	72016
3400	CD 147 TAA>CAA [Stop>Gln]	Hb Zunyi	HBB:c.442T>C	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	72016
3697	CD 147 TAA>ΑAA [Stop>Lys]	Hb Mokum	HBB:c.442T>A	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	72016
3444	CD 147 TAA>TCA [Stop>Ser]	Hb Kanagawa	HBB:c.443A>C	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	72017
4104	CD 147 TAA>ΑAC [Stop>Tyr]	N/A	HBB:c.444A>C	β	Causative	β-thalassaemia	NG_000007.3	72018
3863	3'UTR +1 G>A	N/A	HBB:c.*1G>A	β	Causative	β-thalassaemia	NG_000007.3	72019
267	3'UTR +6 C>G (Terminal CD +6 C>G, CAP +1480, β nt 1480 C>G)	N/A	HBB:c.*6C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72024
3688	3'UTR +21 A>G	N/A	HBB:c.*21A>G	β	Causative	β-thalassaemia	NG_000007.3	72039
2177	3'UTR +32 A>C (3'UTR +1506 (A>C), Terminal CD +32 A>C)	N/A	HBB:c.*32A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72050
268	3'UTR +47 C>G (Terminal CD +47 C>G)	N/A	HBB:c.*47C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72065
3180	3'UTR +62 A>G	N/A	HBB:c.*62A>G	β	Causative	β-thalassaemia	NG_000007.3	72080
269	3'UTR -13 bp [CAP +1567 to +1579]	N/A	HBB:c.93_105delATCTGGATTCTGC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72111
3048	3'UTR, +C, -TGGATTCT	N/A	HBB:c.96_103delTGGATTCTinsC	β	Causative	β-thalassaemia	NG_000007.3	72113
3443	Cap +1570 (T>C)	N/A	HBB:c.*96T>C	β	Causative	β-thalassaemia	NG_000007.3	72114
4076	Cap +1570 (T>G)	N/A	HBB:c.*96T>G	β	Causative	β-thalassaemia	NG_000007.3	72114
270	Poly A (A>C) AATAAA>CATAAA	N/A	HBB:c.*108A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72126
271	Poly A (A>G) AATAAA>GATAAA	N/A	HBB:c.*108A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72126
272	Poly A (T>C) AATAAA>AACAAA	N/A	HBB:c.*110T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72128
273	Poly A (T>A) AATAAA>AAAAAA	N/A	HBB:c.*110T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72128
277	Poly A (-TA); (AATAAA>AAAA)	N/A	HBB:c.110_111delTA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72128
278	Poly A (-AATAA) (polyA (-TAAAA))	N/A	HBB:c.110_114del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72128
4025	Poly A (-T) AATAAA>AA-AAA	N/A	HBB:c.*110del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72128
274	Poly A (A>G) AATAAA>AATGAA	N/A	HBB:c.*111A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72129
275	Poly A (A>G) AATAAA>AATAGA	N/A	HBB:c.*112A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72130
2198	Poly A (A>T) AATAAA>AATATA	N/A	HBB:c.*112A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72130
276	Poly A (A>G) AATAAA>AATAAG	N/A	HBB:c.*113A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72131
3046	3'UTR +115-+116 (-AA) (Poly A (-AA))	N/A	HBB:c.115_116del	β	Causative	β-thalassaemia	NG_000007.3	72133
3933	3'UTR +116 (+A) (β nt + 1590 (+A))	N/A	HBB:c.*116dup	β	Causative	β-thalassaemia	NG_000007.3	72134
2564	3'UTR +118 (A>G) (3'UTR +1592 (A>G))	N/A	HBB:c.*118A>G	β	Causative	β-thalassaemia	NG_000007.3	72136
3786	3'UTR +129 T>A	N/A	HBB:c.*129T>A	β	Causative	β-thalassaemia	NG_000007.3	72147
3605	3'UTR +132 C>T	N/A	HBB:c.*132C>T	β	Causative	β-thalassaemia	NG_000007.3	72150
4018	3'UTR +132 C>G	N/A	HBB:c.*132C>G	β	Causative	β-thalassaemia	NG_000007.3	72150
3932	TTS +8 T>C (β nt +1616 T>C)	N/A	HBB:c.*142T>C	β	Causative	β-thalassaemia	NG_000007.3	72160
3931	TTS +22 G>C (β nt +1630 G>C)	N/A	HBB:c.*156G>C	β	Causative	β-thalassaemia	NG_000007.3	72174
3930	TTS +43 (+A) (β nt +1651 (+A))	N/A	HBB:c.*177dup	β	Causative	β-thalassaemia	NG_000007.3	72195
2496	TTS +48 G>A (CAP +1656 G>A)	N/A	HBB:c.*182G>A	β	Causative	β-thalassaemia	NG_000007.3	72200
2463	TTS +99 C>C	N/A	HBB:c.*233G>C	β	Causative	β-thalassaemia	NG_000007.3	72251
3929	TTS +113 T>C (β nt + 1721 T>C)	N/A	HBB:c.*247T>C	β	Causative	β-thalassaemia	NG_000007.3	72265
3689	TTS +127 T>C	N/A	HBB:c.*261T>C	β	Causative	β-thalassaemia	NG_000007.3	72279

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