IthaGenes

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Showing all entries with α0 phenotype (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
3998	--259	N/A	N/A			,
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
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
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
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
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
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
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
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
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
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
318	--SPAN	N/A	NC_000016.10:g.(169756_170100)_(179044_181595)del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	30619
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
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
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
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
2263	α-ZF	N/A	NC_000016.10:g.174046_192396del	α1	Causative	α-thalassaemia	NG_000006.1	34909
4084	CD 133-135 (-7 bp, -GCACCGT)	N/A	HBA1:c.401_407del	α1	Causative	α-thalassaemia	NG_000006.1	38246

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