IthaGenes

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Showing all Deletions (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
3998	--259	N/A	N/A			,
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
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
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
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
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
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
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
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
3595	--CR	Hb Chiang Rai	NC_000016.10:g.144215_188843del	ζ, α2, α1, HBM	Causative	α-thalassaemia	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
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
2430	203 bp deletion	N/A	NG_000006.1:g.34305_34507del203	α2	Causative	α-thalassaemia	NG_000006.1	34305
4041	3.8 kb deletion	N/A	NC_000016.10:g.173682_177493del	α2, α1	Causative	α-thalassaemia	NG_000006.1	34545
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
3072	125 bp deletion	N/A	NG_000006.1: g.37040_37164del	α1	Neutral	N/A	NG_000006.1	37040
304	-α3.5	N/A	NG_000006.1:g.37464_40964del3501	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37464
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
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
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
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
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
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
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
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
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
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
3936	Italian HS1	N/A	NG_000007.3:g.21088_24120del	βLCR	Neutral	N/A	NG_000007.3	21088
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
3959	HBG1-HBG2 deletion	N/A	NG_000007.3:g.43348_48271del	Aγ, Gγ	Neutral	N/A	NG_000007.3	43348
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
1530	Italian (Aγδβ)0	N/A	NC_000011.10:g.5194458_5249516del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	48100
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
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
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
1497	Corfu (δ)0 (7.2kb Corfu deletion)	N/A	NG_000007.3:g.57237_64443del7207	δ	Causative	δ-thalassaemia	NG_000007.3	57237
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
3964	Hb Anti-Lepore Liuzhou	N/A	NG_000007.3:g.63154_70565dup	δ, β	Causative	δ-chain variant	NG_000007.3	63154
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
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
3394	223 kb deletion	N/A	NC_000011.10:g.5010012_5232933del	δ, β	Causative	β-thalassaemia	NG_000007.3	64683
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
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
282	105 bp deletion	N/A	HBB:c.-74_31del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70521
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
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
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

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