IthaGenes

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Showing all entries assigned as Thalassaemia (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype
301	-α4.2	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
302	-α2.4	N/A	N/A	α1	Causative	α-thalassaemia, Haemolytic anaemia
306	-α7.9	N/A	N/A	α2	Causative	α-thalassaemia, Haemolytic anaemia
307	-α18 (18 kb deletion)	N/A	N/A	α1	Causative	α-thalassaemia, Haemolytic anaemia
316	-(α)5.2	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
322	--CI (28+ kb deletion.)	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
324	--115	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
326	--YEM	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
329	--KOL	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
330	--11.1 (11.1 kb deletion)	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
331	--OH	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
332	(αα)RA	N/A	N/A	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia
333	(αα)TI	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
334	(αα)IJ	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
335	(αα)CMO	N/A	N/A	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia
336	(αα)TAT	N/A	N/A	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia
337	(αα)MB	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
338	(αα)IC	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
339	(αα)IdF	N/A	N/A	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia
2230	-α3.7 (type II)	N/A	N/A	α2, α1, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia
2231	-α3.7 (type III)	N/A	N/A	α2, α1, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia
2233	-ζ	N/A	N/A	ζ	Causative	α-thalassaemia, Haemolytic anaemia
2234	-α16.6	N/A	N/A	ζ, α2	Causative	α-thalassaemia, Haemolytic anaemia
2235	α-αΔ970 (970 bp deletion)	N/A	N/A	α1	Causative	α-thalassaemia, Haemolytic anaemia
2236	--DUTCH I	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2237	--AW	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2238	--BGS	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2239	--CAMPANIA	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2240	--FIL-2 (27.9 deletion)	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2241	--ED	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2242	--GP	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2243	(αα)AS	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
2244	(αα)JM	N/A	N/A	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia
2245	(αα)MM	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
2246	(αα)L	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
2247	(αα)SN	N/A	N/A	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia
2248	(αα)Sco	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
2249	(αα)ZW	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
2250	(αα)RSR	N/A	N/A	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia
2251	(αα)MCu	N/A	N/A	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia
2252	--BR	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2253	--ZW	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2254	--JY	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2255	--LC	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2256	--VR	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2257	--JT	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2258	--AB	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2259	--GZ	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2260	Dutch II	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2261	--MK	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2262	--80	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2263	α-ZF	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2264	--Brazil	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2265	--PV	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2266	--HN	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2267	--FT	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2268	--BA	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2269	--TN	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2270	--BO	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2271	--IM	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2272	--LIN	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2273	--GS	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2555	α12 (HBA2 gene conversion)	N/A	N/A	α2, α1	Causative	α-thalassaemia
2562	(αα)HS40del (hg19 chr16:g.(?_103625)_(163701_193676)del)	N/A	chr16:g.(?_103,625)_163,701_193,676)del	HS40	Causative	α-thalassaemia
2567	BS duplication	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia
2568	FD duplication	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia
2570	Sardinian duplication	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia
3021	--JAL	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia
3022	--LOD	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia
3067	--MEX1	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3068	--MEX2	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia
3070	αααα282	N/A	N/A	HS40, ζ, α2, α1, NPRL3	Causative	β-thalassaemia
3071	--235	N/A	N/A	HS40, ζ, α2, α1, NPRL3	Causative	α-thalassaemia, Haemolytic anaemia
3074	(αα)JX	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
3076	αααα391	N/A	N/A	HS40, ζ, α2, α1	Causative	β-thalassaemia
3142	-α6.3	N/A	NG_000006.1:g.31022_37366del6344	α2	Causative	α-thalassaemia, Haemolytic anaemia
3214	44.6 kb deletion	N/A	NC_000016.9:g.194214_238840del	ζ, α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3215	--Braz	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3244	−KOZANI	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3255	--MEX3	N/A	NC_000016.10:g.151479_182582del	ζ, α2, α1, HBM	Causative	α-thalassaemia
3258	--NFLD	N/A	NC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCA	α2, α1	Causative	α-thalassaemia
3265	α-globin cluster triplication	N/A	N/A	HS40, ζ, α2, α1, HBM	Causative	β-thalassaemia
3273	--VS	N/A	N/A	HS40, ζ, α2, α1, HBM, AXIN1	Causative	α-thalassaemia
3274	--CBR	N/A	N/A	HS40, ζ, α2, α1, HBM	Causative	α-thalassaemia
3275	(αα)ALT	N/A	N/A	HS40	Causative	α-thalassaemia
3283	--JS	N/A	N/A	α2, α1	Causative	α-thalassaemia
3284	--PG	N/A	NG_000006.1:g.93628_542759del450131	HS40, ζ, α2, α1, NPRL3, HBM, AXIN1	Causative	α-thalassaemia, Haemolytic anaemia
3292	15 kb deletion	N/A	N/A	α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3293	97 kb deletion	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
3294	22 kb deletion	N/A	N/A	α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3295	225 kb deletion	N/A	N/A	HS40, ζ, α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3296	--GB	N/A	N/A	α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3327	--GX	N/A	N/A	HS40, ζ, α2, α1, NPRL3, HBM	Causative	α-thalassaemia
3407	(αα)JS	N/A	NC_000016.9:g.96621_176318del	HS40, NPRL3	Causative	α-thalassaemia, Haemolytic anaemia
3408	--60.2	N/A	NC_000016.9:g.197577_257872del	ζ, α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
327	--MC	N/A	NG_000006.1:g.164_43364del43201	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2554	-α28.5	N/A	NG_000006.1g.7065_35627del28563	ζ, α2	Causative	α-thalassaemia
323	--CAL	N/A	NG_000006.1:g.8464_40664del32201	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3020	--DANE	N/A	NG_000006.1: g.8800_40007del31208	ζ, α2, α1	Causative	α-thalassaemia
2232	-α27.6	N/A	NG_000006.1:g.9079_36718del27640	ζ, α2	Causative	α-thalassaemia, Haemolytic anaemia
310	--THAI	N/A	NG_000006.1:g.10664_44164del33501	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
313	--MED II	N/A	NG_000006.1:g.10864_40864del30001	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
311	--FIL	N/A	NG_000006.1:g.11684_43534	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
325	--RT	N/A	NG_000006.1:g.12264_49164del36901	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
321	--CL	N/A	NG_000006.1:g.13314_124664del111351	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
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
314	-(α)20.5	N/A	NG_000006.1:g.15164_37864del22701	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
320	--BRIT	N/A	NG_000006.1:g.16364_45664del29301	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
319	--MA	N/A	NG_000006.1:g.18964_39864del20901	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
315	--SA	N/A	NG_000006.1:g.19464_43064del23601	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
312	--MED I	N/A	NG_000006.1:g.24664_41064del16401	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
309	--SEA	N/A	NG_000006.1:g.26264_45564del19301	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
305	-α5.3	N/A	NG_000006.1:g.28684_33930del5246	α2	Causative	α-thalassaemia, Haemolytic anaemia
318	--SPAN	N/A	NG_000006.1:g.30864_41414del10551	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
328	--CANT	N/A	NG_000006.1:g.30864_41414del10551	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3018	--NOR	N/A	NG_000006.1:g.31541_44948del13408	α2, α1	Causative	α-thalassaemia
3360	9.7 kb deletion	N/A	NG_000006.1:g.32709_42418del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
317	--GEO	N/A	NG_000006.1:g.32864_42264del9401	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3268	811 bp deletion	N/A	NG_000006.1:g.32945_33755	α2	Causative	α-thalassaemia
2988	-54 G>A	N/A	HBA2:c.-91G>A	α2	Causative	α-thalassaemia
2967	-22 C>T	N/A	HBA2:c.-59C>T	α2	Causative	α-thalassaemia
346	Init CD ACCATG>--CATG	N/A	HBA2:c.-3delAC	α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia
3051	Init CD ACCATG>-CCATG	N/A	HBA2:c.-3delA	α2	Causative	α-thalassaemia
344	Init CD ATG>-TG	N/A	HBA2:c.1delA	α2	Causative	α-thalassaemia, Haemolytic anaemia
345	Init CD ATG>GTG	N/A	HBA2:c.1A>G	α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia
3050	Init CD ATG>TTG [Met>Leu]	N/A	HBA2:c.1A>T	α2	Causative	α-thalassaemia
342	Init CD ATG>ACG [Met>Thr]	N/A	HBA2:c.2T>C	α2	Causative	α-thalassaemia, Haemolytic anaemia
343	Init CD ATG>A-G	N/A	HBA2:c.2delT	α2	Causative	α-thalassaemia, Haemolytic anaemia
2460	Init CD ATG>AGG [Met>Arg]	N/A	HBA2:c.2T>G	α2	Causative	α-thalassaemia, Haemolytic anaemia
2469	CD 7 AAG>TAG	N/A	HBA2:c.22A>T	α2	Causative	α-thalassaemia
2518	CD 14 TGG>TGA	N/A	HBA2:c.45G>A	α2	Causative	α-thalassaemia
350	CD 18 GTC>-TC	N/A	HBA2:c.56delG	α2	Causative	α-thalassaemia, Haemolytic anaemia
2465	CD 19 GCG>GC-	N/A	HBA2:c.60delG	α2	Causative	α-thalassaemia
2207	CD 21/22 +T	N/A	HBA2:c.66_67insT	α2	Causative	α-thalassaemia, Haemolytic anaemia
352	CD 22 GGC>GGT new donor consensus	N/A	HBA2:c.69C>T	α2	Causative	α-thalassaemia, Haemolytic anaemia
353	CD 22 -C	N/A	HBA2:c.69delC	α2	Causative	α-thalassaemia, Haemolytic anaemia
354	CD 23 GAG>TAG	N/A	HBA2:c.70G>T	α2	Causative	α-thalassaemia, Haemolytic anaemia
2208	CD 24 TAT>TAG	N/A	HBA2:c.75T>G	α2	Causative	α-thalassaemia, Haemolytic anaemia
2488	CD 24 TAT>TAA	N/A	HBA2:c.75T>A	α2	Causative	α-thalassaemia
357	CD 30 -GAG [-Glu]	N/A	HBA2:c.91_93delGAG	α2	Causative	α-thalassaemia, Haemolytic anaemia
2210	CD 31 AGG>CGG [Arg>Arg]	N/A	HBA2:c.94A>C	α2	Causative	α-thalassaemia, Haemolytic anaemia
366	CD 31 AGG>AAG [Arg>Lys]	N/A	HBA2:c.95G>A	α2	Causative	α-thalassaemia, Haemolytic anaemia
2483	IVS I-1 G>T	N/A	HBA2:c.95+1G>T	α2	Causative	α-thalassaemia
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
360	IVS I-5 G>A	N/A	HBA2:c.95+5 G>A	α2	Causative	α-thalassaemia, Haemolytic anaemia
362	IVS I-55 G>A	N/A	HBA2:c.95+55 G>A	α2	Causative	α-thalassaemia, Haemolytic anaemia
363	IVS I-116 GCAGGA>GCGGGA acceptor	N/A	HBA2:c.96-2A>G	α2	Causative	α-thalassaemia, Haemolytic anaemia
2957	IVS I-117 G>A	N/A	HBA2:c.96-1G>A	α2	Causative	α-thalassaemia
2211	CD 37 -C	N/A	HBA2:c.112delC	α2	Causative	α-thalassaemia, Haemolytic anaemia
3052	CD 37 CCC>CC-	N/A	HBA2:c.114delC	α2	Causative	α-thalassaemia
2493	CD 40 AAG>AA-	N/A	HBA2:c.123delG	α2	Causative	α-thalassaemia, Haemolytic anaemia
2213	CD 43 TTC>-TC	N/A	HBA2:c.130delT	α2	Causative	α-thalassaemia, Haemolytic anaemia
2214	CD 43 TTC>T-C	N/A	HBA2:c.131delT	α2	Causative	α-thalassaemia, Haemolytic anaemia
2215	CD 43/44 -C	N/A	HBA2:c.132delC	α2	Causative	α-thalassaemia, Haemolytic anaemia
3405	CD 47-53 (-24bp): (-GACCTGAGCCACGGCTCTGC)	N/A	HBA2:c.142_161delGACCTGAGCCACGGCTCTGC	α2	Causative	α-thalassaemia
2216	CD 47 -A	N/A	HBA2:c.143delA	α2	Causative	α-thalassaemia, Haemolytic anaemia
3053	CD 47/48 (-4bp): (-ACCT)	N/A	HBA2:c.143_146delACCT	α2	Causative	α-thalassaemia
374	CD 49 -GC	N/A	HBA2:c.149_150delGC	α2	Causative	α-thalassaemia, Haemolytic anaemia
2217	CD 51/52 +G	N/A	HBA2:c.156_157insG	α2	Causative	α-thalassaemia, Haemolytic anaemia
376	CD 54 (CAG>TAG)	N/A	HBA2:c.163C>T	α2	Causative	α-thalassaemia, Haemolytic anaemia
3079	CD 55 +T	N/A	HBA2:c.168dup	α2	Causative	α-thalassaemia
3054	CD 56 AAG>--G	N/A	HBA2:c.169_170delAA	α2	Causative	α-thalassaemia
3286	CD 61 AAG>TAG [Lys>STOP]	N/A	HBA2:c.184A>T	α2	Causative	α-thalassaemia, Haemolytic anaemia
2218	CD 63-76 (-42 bp)	N/A	HBA2:c.190_231del	α2	Causative	α-thalassaemia, Haemolytic anaemia
2576	CD 68 AAC>A-C	N/A	HBA2c.206delA	α2	Causative	α-thalassaemia
3055	CD 73/74 (-4bp): (-GTGG)	N/A	HBA2:c.220_223delGTGG	α2	Causative	α-thalassaemia
388	CD 90 AAG>TAG	N/A	HBA2:c.271A>T	α2	Causative	α-thalassaemia, Haemolytic anaemia
300	-α3.7 (type I) (-α3.7)	N/A	NG_000006.1:g.34164_37967del3804	α2, α1, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia
3080	CD 94 (+21 bp duplication)	Hb SKMC	HBA2:c.283_300+3dup	α2	Causative	α-thalassaemia, Haemolytic anaemia
391	IVS II-2 GT>GA donor	N/A	HBA2:c.300+2T>A	α2	Causative	α-thalassaemia, Haemolytic anaemia
2430	203 bp deletion	N/A	NG_000006.1:g.34305_34507del203	α2	Causative	α-thalassaemia
392	IVS II-142 G>A	N/A	HBA2:c.301-1G>A	α2	Causative	α-thalassaemia
398	CD 108 -C	N/A	HBA1:c.327delC	α1	Causative	α-thalassaemia, Haemolytic anaemia
402	CD 112/113 -C	N/A	HBA2:c.339delC	α2	Causative	α-thalassaemia, Haemolytic anaemia
403	CD 113/114 -C	N/A	HBA2:c.342delC	α2	Causative	α-thalassaemia, Haemolytic anaemia
3078	CD 113 +CC	N/A	HBA2:c.342_345insCC	α2	Causative	α-thalassaemia, Haemolytic anaemia
3140	CD 114 CCC>CC-	N/A	HBA2:c.345delC	α2	Causative	α-thalassaemia, Haemolytic anaemia
405	CD 116 GAG>TAG	N/A	HBA2:c.349G>T	α2	Causative	α-thalassaemia, Haemolytic anaemia
2221	CD 115 -GAGTTCACCCC [166 aa]	N/A	HBA2:c.349_359delGAGTTCACCCC	α2	Causative	α-thalassaemia, Haemolytic anaemia
410	CD 125 CTG>CAG [Leu>Gln]	Hb Weste-Einde	HBA2:c.377T>A	α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia
3305	CD 126 GCG>-CG	N/A	HBA2:c.379delG	α2	Causative	α-thalassaemia
2519	CD 127 AAG>TAG	N/A	HBA2:c.382A>T	α2	Causative	α-thalassaemia
2226	3' UTR +46 C>A	N/A	HBA2:c.*46C>A	α2	Causative	α-thalassaemia, Haemolytic anaemia
428	3' UTR -16 bp (giving rise to CATAAA)	N/A	HBA2:c.74_89delCCTTCCTGGTCTTTGA	α2	Causative	α-thalassaemia, Haemolytic anaemia
425	Poly(A) AATAAA>AATGAA (αPolyA2)	N/A	HBA2:c.*92A>G	α2	Causative	α-thalassaemia, Haemolytic anaemia
426	Poly(A) AATAAA>AATA--	N/A	HBA2:c.93_94delAA	α2	Causative	α-thalassaemia, Haemolytic anaemia
424	Poly(A) AATAAA>AATAAG (αPolyA1 , αT-Saudi)	N/A	HBA2:c.*94A>G	α2	Causative	α-thalassaemia, Haemolytic anaemia
427	Poly(A) AATAAA>AATAAC	N/A	HBA2:c.*94A>C	α2	Causative	α-thalassaemia, Haemolytic anaemia
303	-α2.7	N/A	NG_000006.1:g.36664_39364del2701	α1	Causative	α-thalassaemia, Haemolytic anaemia
304	-α3.5	N/A	NG_000006.1:g.37464_40964del3501	α1	Causative	α-thalassaemia, Haemolytic anaemia
340	CAP +22 T>C	N/A	HBA1:c.-16T>C	α1	Causative	α-thalassaemia, Haemolytic anaemia
2203	CAP +29 (G>C)	N/A	HBA1:c.-9G>C	α1	Causative	α-thalassaemia, Haemolytic anaemia
341	Init CD ATG>GTG	N/A	HBA1:c.1A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia
3147	Init CD ATG>AAG [Met>Lys]	N/A	HBA1:c.2T>A	α1	Causative	α-thalassaemia, Haemolytic anaemia
3250	Init CD ATG>A-G	N/A	HBA1:c.2delT	α1	Causative	α-thalassaemia
349	CD 14 TGG>TAG	N/A	HBA1:c.44A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia
3395	CD 16 AAG>TAG [Lys>STOP]	N/A	HBA1:c.49A>T	α1	Causative	α-thalassaemia
3266	CD 22 GGC>GGT [Gly>Gly]	N/A	HBA1:c.69C>T	α1	Causative	α-thalassaemia, Haemolytic anaemia
3267	CD 23 GAG>TAG	N/A	HBA1:c.70G>T	α1	Causative	α-thalassaemia, Haemolytic anaemia
3032	CD 28 GCC>TCC [Ala>Ser]	N/A	HBA1:c.85G>T	α1	Causative	α-thalassaemia
3030	CD 30 GAG>TAG	N/A	HBA1:c.91G>T	α1	Causative	α-thalassaemia
365	CD 31 AGG>--G	N/A	HBA1:c.92_93delAG	α1	Causative	α-thalassaemia, Haemolytic anaemia
2417	CD 31 AGG>--G	N/A	HBA1:c.94_95delAG \| HBA2:c.94_95delAG	α3.7 hybrid	Causative	α-thalassaemia
358	IVS I-1 AGGT>AGAT donor	N/A	HBA1:c.95+1G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia
3049	IVS I-1 AGGT>AGCT donor	N/A	HBA1:c.95+1G>C	α1	Causative	α-thalassaemia
2204	IVS I-4 A>G	N/A	HBA1:c.95+4A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia
361	IVS I-5 G>A	N/A	HBA1:c.95+5 G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia
2212	IVS I-45 G>C	N/A	HBA1:c.95+45G>C	α1	Causative	α-thalassaemia, Haemolytic anaemia
2451	IVS I-116 A>G	N/A	HBA1:c.96-2A>G	α1	Causative	α-thalassaemia
364	IVS I-117 GCAGGA>GCAAGA acceptor	N/A	HBA1:c.96-1G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia
3251	IVS I-117 GCAGGA>GCACGA acceptor	N/A	HBA1:c.96-1G>C	α1	Causative	α-thalassaemia
372	CD 39-41 (-9 bp, + 8 bp duplication)	N/A	HBA1:c.108_146del9ins8	α2	Causative	α-thalassaemia, Haemolytic anaemia
3403	CD 39 +A	N/A	HBA2:c.118_119insA	α2	Causative	α-thalassaemia
2468	CD 44 +C	N/A	HBA1:c.134_135insC	α1	Causative	α-thalassaemia
375	CD 51-55 (-13 bp deletion)	N/A	HBA1:c.155_167delGCTCTGCCCAGGT	α1	Causative	α-thalassaemia, Haemolytic anaemia
3334	CD 61 AAG>TAG [Lys>STOP]	N/A	HBA1:c.184A>T	α1	Causative	α-thalassaemia
2429	CD 62 GTG>GCG [Val>Ala]	N/A	HBA1:c.188T>C	α1	Causative	α-thalassaemia
2347	CD 62 -G	N/A	HBA1:c.189delG	α1	Causative	α-thalassaemia, Haemolytic anaemia
3373	CD 67 ACC>-CC	N/A	HBA1:c.202delA	α1	Causative	α-thalassaemia
385	CD 74/75 -GAC [- Asp]	N/A	HBA1:c.212_214delGAC	α1	Causative	α-thalassaemia, Haemolytic anaemia
3326	CD 73 GTG>G-G	N/A	HBA1:c.221delT	α1	Causative	α-thalassaemia
386	CD 78 -C	N/A	HBA1:c.237delC	α1	Causative	α-thalassaemia, Haemolytic anaemia
2219	CD 81 -T	N/A	HBA2:c.244delT	α2	Causative	α-thalassaemia, Haemolytic anaemia
387	CD 82/83/84 del 5bp ins	N/A	HBA1:c.247_255delGCCCTGAGC	α2	Causative	α-thalassaemia, Haemolytic anaemia
390	CD 93-99 (+21 bp)	N/A	HBA1:c.280_300ins21	α1	Causative	α-thalassaemia, Haemolytic anaemia
2467	CD 99 AAG>TAG	N/A	HBA1:c.298A>T	α1	Causative	α-thalassaemia
3031	IVS II-1 G>A	N/A	HBA1:c.300+1G>A	α1	Causative	α-thalassaemia
2222	IVS II-147 C>G	N/A	HBA1:c.301-3C>G	α1	Causative	α-thalassaemia, Haemolytic anaemia
393	IVS II-148 A>G consensus	N/A	HBA1:c.301-2A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia
2224	CD 110-114 (-13 bp)	N/A	HBA1:c.333_345delCGCCCACCTCCCC	α1	Causative	α-thalassaemia, Haemolytic anaemia
2225	Poly A (G>A) AATAAAG>AATAAAA	N/A	HBA1:c.*96G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia
78	CD 18 (+A)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
124	IVS I [3' end] (+22bp)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
284	468 bp deletion	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
285	Black (532 bp deletion)	N/A	HBB:c.-504_28del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
290	Thai (3485 bp deletion)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
291	Czech (4237 bp deletion)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
292	Turk (~7.6 kb deletion)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
293	Cape Verdean	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
294	Asian Indian (10329 bp deletion)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
295	Australian (Anglo Saxon) (12023 bp deletion)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
299	Italian (~67 kb deletion)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
1400		Hb Lepore-Leiden	N/A	δ, β	Causative	δβ-thalassaemia
1511	East European (δβ)0	N/A	N/A	δ, β	Causative	δβ-thalassaemia
1512	Laotian (δβ)0	N/A	N/A	δ, β	Causative	δβ-thalassaemia
1513	Thai (δβ)0	N/A	N/A	δ, β	Causative	δβ-thalassaemia
1514	Macedonian/Turkish (δβ)0	N/A	N/A	δ, β	Causative	δβ-thalassaemia
1515	Turkish (δβ)0	N/A	N/A	δ, β, pseudo β	Causative	δβ-thalassaemia
1516	Leiden 7.4 kb (δβ)0	N/A	N/A	δ, β	Causative	δβ-thalassaemia
1517	Thai 11.3 (δβ)0	N/A	N/A	δ, β	Causative	δβ-thalassaemia, Hb F levels
1518	Japanese 2 (δβ)0	N/A	N/A	δ, β, pseudo β	Causative	δβ-thalassaemia
1519	Indian (Aγδβ)0 (inv)	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1521	Cantonese (Aγδβ)0	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1522	Malaysian-1 (Aγδβ)0	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1525	Belgian (Aγδβ)0	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1528	Yunnanese (Aγδβ)0	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1530	Italian (Aγδβ)0	N/A	NC_000011.9:g.(5215685_5215688)_(5270743_5270746)del55059	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1531	Canadian (Aγδβ)0	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1532	Leiden 69.5	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1533	Asian (49.3 kb deletion)	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1534	Anglo-Saxon (εγδβ)0	N/A	NC_000011.8:g.5204501_5300223del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1535	Irish (εγδβ)0	N/A	NC_000011.8:g.5110112_5312961del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1536	Canadian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1537	Scottish - Irish	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1538	English I (εγδβ)0	N/A	N/A	βLCR, ε, Gγ	Causative	εγδβ-thalassaemia
1539	Mexican (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1540	Hispanic (εγδβ)0	N/A	NC_000011.8:g.5257379_5297161del	βLCR	Causative	εγδβ-thalassaemia
1541	Croatian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1542	Dutch I (εγδβ)0	N/A	NC_000011.8:g.5207238_5307069del99611	βLCR, ε, Aγ, Gγ, δ, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia
1543	English II	N/A	N/A	βLCR, ε	Causative	εγδβ-thalassaemia
1544	English III	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1545	English IV	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1546	Chilean	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1547	Dutch II	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B5, OR51M1	Causative	εγδβ-thalassaemia
1548	Dutch III	N/A	N/A	βLCR, ε, Aγ, Gγ	Causative	εγδβ-thalassaemia
1549	Dutch IV	N/A	N/A	βLCR, ε, Aγ, Gγ, OR51B5, OR51B6	Causative	εγδβ-thalassaemia
1550	Dutch V	N/A	N/A	βLCR	Causative	εγδβ-thalassaemia
1551	Dutch VI	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1552	Japanese	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1553	French	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
2123	7719 bp deletion	N/A	NG_000007.3:g.71550_79270del7719	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2125	Afghan (909 bp deletion)	N/A	HBB:c.-528_251del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2126	South East Asian (SEA) deletion (27 kb deletion)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2157	Indian (4056 bp deletion)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2158	Pakistani I	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
2159	(εγδβ)0 with α triplication	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
2161	French (εγδβ)0 insertion/deletion	N/A	N/A	βLCR	Causative	εγδβ-thalassaemia
2163	Norwegian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, pseudo β	Causative	εγδβ-thalassaemia
2164	Tennessean (εγδβ)0	N/A	N/A	βLCR	Causative	εγδβ-thalassaemia
2165	Puerto Rican (εγδβ)0	N/A	N/A	βLCR	Causative	εγδβ-thalassaemia
2167	Asian Indian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
2418	Swiss (εγδβ)0	N/A	NC_000011.9:g.(4023964_4024014)_(6928943_6928993)del2904980	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia
2419	Senegalese δ(0)β(+)	N/A	NG_000007.3:g.(63154_63209)_(70570_70625)del7417	δ, β	Causative	δβ-thalassaemia, Haemolytic anaemia
2548	Inv-Del English V	N/A	NC_000011.10:g.5215690_5274684invdel5215690_5215772del5274684_5397195	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2551	Austrian I	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
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
3270	Chinese I (εγδβ)0	N/A	NC_000011.9:g.5057966_5291566del	ε, Aγ, Gγ, δ, β, pseudo β, OR51V1	Causative	εγδβ-thalassaemia
3340	Brazilian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B2	Causative	εγδβ-thalassaemia
3393	3.5 kb deletion	N/A	NC_000011.10:g.5224302-5227791del3490bp	β	Causative	β-thalassaemia, Haemolytic anaemia
3394	223 kb deletion	N/A	NC_000011.9:g.5031238_5254163del	δ, β	Causative	β-thalassaemia
2566	Caribbean	N/A	NG_000007.3:g.8510_13369del	βLCR	Causative	β-thalassaemia
1524	Turkish (Aγδβ)0	N/A	NG_000007.3:g.45410_81665del36256	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1504	SE Asian, Thai (Aγδβ)0 (HPFH-6)	N/A	NG_000007.3:g.45595_124872del79278	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia, Hb F levels
1520	German (Aγδβ)0	N/A	NG_000007.3:g.(45922_46319)_(98640_99640)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1523	Malaysian-2 (Aγδβ)0	N/A	NG_000007.3:g.(47376_47553)_(89149_90149)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1527	Chinese (Aγδβ)0	N/A	NG_000007.3:g.48795_127698del78904	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1526	Black (Aγδβ)0	N/A	NG_000007.3:g.49040_84889del35850	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia, Haemolytic anaemia
1506	Indian (δβ)0	N/A	NG_000007.3:g.50509_83170del32662	δ, β, pseudo β	Causative	δβ-thalassaemia, Haemolytic anaemia
1508	Japanese (δβ)0	N/A	NG_000007.3:g.51483_165148del113666	δ, β, pseudo β	Causative	δβ-thalassaemia
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
1497	Corfu (δ)0 (7.2kb Corfu deletion)	N/A	NG_000007.3:g.57237_64443del7207	δ	Causative	δ-thalassaemia
1509	Spanish (δβ)0	N/A	NG_000007.3:g.60375_153285del92911	δ, β	Causative	δβ-thalassaemia
1510	Black (δβ)0	N/A	NG_000007.3:g.(60530_60730)_(72351_72551)del11822	δ, β	Causative	δβ-thalassaemia
3223	CAP +48 (A>T)	N/A	HBD:c.-6A>T	δ	Causative	δ-thalassaemia
2202	CAP +53 (G>A)	N/A	HBD:c.-1G>A	δ	Causative	δ-thalassaemia
1321	-80 (G>A)	N/A	HBD:c.-130G>A	δ	Causative	δ-thalassaemia
1322	-77 (T>C)	N/A	HBD:c.-127T>C	δ	Causative	δ-thalassaemia
1323	-76 (A>T)	N/A	HBD:c.-126A>T	δ	Causative	δ-thalassaemia
1324	-68 (C>T)	N/A	HBD:c.-118C>T	δ	Causative	δ-thalassaemia, Hb levels
1325	-65 (A>G)	N/A	HBD:c.-115A>G	δ	Causative	δ-thalassaemia
1326	-55 (T>C)	N/A	HBD:c.-105T>C	δ	Causative	δ-thalassaemia
1327	-36 (C>A)	N/A	HBD:c.-86C>A	δ	Causative	δ-thalassaemia
1328	-31 (A>G)	N/A	HBD:c.-81A>G	δ	Causative	δ-thalassaemia
1329	-30 T>C	N/A	HBD:c.-80T>C	δ	Causative	δ-thalassaemia
1330	Init CD ATG>ATA [Met>Ile]	N/A	HBD:c.3G>A	δ	Causative	δ-thalassaemia
3307	N/A	Hb Lepore Rochester-MN	NG_000007.3:g.[63191_70603dup;63291_70703del]	δ, β	Causative	δβ-thalassaemia
3231	CD 7 (-3bp): (-GAG)	N/A	HBD:c.22_24delGAG	δ	Causative	δ-thalassaemia
3336	CD 7 GAG>TAG [Glu>STOP]	N/A	HBD:c.22G>T	δ	Causative	δ-thalassaemia
3232	CD 10 GCT>-CT	N/A	HBD:c.31delG	δ	Causative	δ-thalassaemia
1333	CD 30 (AGG>ACG)	N/A	HBD:c.92G>C	δ	Causative	δ-thalassaemia
1334	IVS I-2 (T>C)	N/A	HBD:c.92+2T>C	δ	Causative	δ-thalassaemia
2090	IVS I-5 G>T	N/A	HBD:c.92+5G>T	δ	Causative	δ-thalassaemia
1397		Hb Lepore-Hollandia	NG_000007.3:g.63290_70702del	δ, β	Causative	δβ-thalassaemia
2563	IVS I-1 (27 bp insertion)	N/A	HBD:c.92+83_84ins27	δ	Causative	δ-thalassaemia
3233	IVS I 3' AG>-C	N/A	HBD:c.93-2delA	δ	Causative	δ-thalassaemia
1335	IVS I 3' AG>AC	N/A	HBD:c.93-1G>C	δ	Causative	δ-thalassaemia
1336	CD 37 (TGG>TAG)	N/A	HBD:c.113G>A	δ	Causative	δ-thalassaemia
2575	CD 58 +C	N/A	HBD:c.176_177insC	δ	Causative	δ-thalassaemia
1337	CD 59 (-A)	N/A	HBD:c.178delA	δ	Causative	δ-thalassaemia
3237	CD59/60 (+GG)	N/A	HBD:c.180_181dupGG	δ	Causative	δ-thalassaemia
2092	CD 82 AAG>TAG	N/A	NG_000007.3:g.63557A>T	δ	Causative	δ-thalassaemia
1398		Hb Lepore-Baltimore	NG_000007.3:g.63564_70978del	δ, β	Causative	δβ-thalassaemia
3236	CD 87 CAG>C-G	N/A	HBD:c.263delA	δ	Causative	δ-thalassaemia
1338	CD 91 (+T)	N/A	HBD:c.286_287insT	δ	Causative	δ-thalassaemia
1340	IVS II-1 G>A	N/A	HBD:c.315+1G>A	δ	Causative	δ-thalassaemia
1341	IVS II-6 (T>A)	N/A	HBD:c.315+6T>A	δ	Causative	δ-thalassaemia
1507	Sicilian (δβ)0	N/A	NG_000007.3:g.64336_77738del13403	δ, β	Causative	δβ-thalassaemia, Haemolytic anaemia
1342	IVS II-894 C>T	N/A	HBD:c.316-5C>T	δ	Causative	δ-thalassaemia
1343	IVS II-897 A>C	N/A	HBD:c.316-2A>C	δ	Causative	δ-thalassaemia
2473	IVS II-897 A>G	N/A	HBD:c.316-2A>G	δ	Causative	δ-thalassaemia
2201	CD 107 G>A [Gly>Asp]	N/A	HBB:c.323G>A	δ	Causative	δ-thalassaemia
3234	CD 113 (+TG)	N/A	HBD:c.341_342dupTG	δ	Causative	δ-thalassaemia
3230	CD 115 GCC>GTC [Ala>Val]	N/A	HBD:c.347C>T	δ	Causative	δ-thalassaemia
3229	CD 116 CGC>GGC [Arg>Gly]	N/A	HBD:c.349C>G	δ	Causative	δ-thalassaemia
3269	CD 147 TGA>CGA	N/A	HBD:c.442T>C	δ	Causative	δ-thalassaemia
1346	Poly A +69 (G>A)	N/A	HBD:c.*199G>A	δ	Causative	δ-thalassaemia
298	Filipino (~45 kb deletion)	N/A	NG_000007.3:g.66258_184734del118477	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2283	South-Italy	N/A	NG_000007.3:g.66902_133052del66151	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
296	Dutch (12620 bp deletion)	N/A	NG_000007.3:g.68071_80682del12612	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
289	Croatian (1605 bp deletion)	N/A	NG_000007.3:g.69561_71164del1604	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2150	1357 bp deletion	N/A	NG_000007.3:g.69997_71353del1357	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
288	Black, British (1393 bp deletion)	N/A	NG_000007.3:g.70060_71452del1393	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3277	538 bp deletion	N/A	HBB:c.-464_74del \| NG_000007.3:g.70131_70668del	β	Causative	β-thalassaemia
3278	1517 bp deletion	N/A	HBB:c.-390_316-169delinsA \| NG_000007.3: g.70205_ 71721delinsA	β	Causative	β-thalassaemia
3081	-223 T>C	N/A	HBB:c.-273T>C	β	Causative	β-thalassaemia
1	-190 (G>A)	N/A	HBB:c.-240G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2122	125 bp deletion	N/A	NG_000007.3:g.70360_70485del125	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2153	Kabylia deletion/insertion	N/A	U01317.1:g.62009_64049del2040insATAAG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
283	290 bp deletion	N/A	HBB:c.-176_92+25del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2	-102 (C>A)	N/A	HBB:c.-152C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3	-101 (C>T)	N/A	HBB:c.-151C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
4	-101 (C>G)	N/A	HBB:c.-151C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3059	-98 T>A	N/A	HBB:c.-148T>A	β	Causative	β-thalassaemia
5	-93 C>G	N/A	HBB:c.-143C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
6	-92 (C>T)	N/A	HBB:c.-142C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
7	-90 (C>T)	N/A	HBB:c.-140C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3224	-90 (C>G)	N/A	HBB:c.-140C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
8	-88 (C>T)	N/A	HBB:c.-138C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
9	-88 (C>A)	N/A	HBB:c.-138C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2178	-88 C>G	N/A	HBB:c.-138C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
10	-87 C>G	N/A	HBB:c.-137C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
11	-87 (C>T)	N/A	HBB:c.-137C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
12	-87 (C>A)	N/A	HBB:c.-137C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
13	-86 C>G	N/A	HBB:c.-136C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
14	-86 (C>A)	N/A	HBB:c.-136C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3077	-83 G>A	N/A	HBB:c.-133G>A	β	Causative	β-thalassaemia
3386	-76 C>A	N/A	HBB:c.-126C>A	β	Causative	β-thalassaemia
3069	-77 G>C	N/A	HBB:c.-127G>C	β	Causative	β-thalassaemia
15	-73 (A>T)	N/A	HBB:c.-123A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2997	-72 T>A	N/A	HBB:c.-122T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2171	-71 C>T	N/A	NG_000007.3:g.70474C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3043	-71 C>T	N/A	HBB:c.-121C>T	β	Causative	β-thalassaemia
16	-56 G>C	N/A	HBB:c.-106G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
17	-50 G>A	N/A	HBB:c.-100G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3060	-42 C>G	N/A	HBB:c.-92C>G	β	Causative	β-thalassaemia
2172	-41 A>T	N/A	HBB:c.-91A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
18	-32 (C>A)	N/A	HBB:c.-82C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
19	-32 (C>T)	N/A	HBB:c.-82C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
20	-31 (A>G)	N/A	HBB:c.-81A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
21	-31 (A>C)	N/A	HBB:c.-81A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
22	-30 (T>A)	N/A	HBB:c.-80T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
23	-30 (T>C)	N/A	HBB:c.-80T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2179	-30 T>G	N/A	HBB:c.-80T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3062	-30 (-T)	N/A	HBB:c.-80delT	β	Causative	β-thalassaemia
24	-29 to -26 (-AA)	N/A	HBB:c.-79_78delAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
25	-29 (A>G)	N/A	HBB:c.-79A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
26	-29 (A>C)	N/A	HBB:c.-79A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
27	-29 (G>A)	N/A	HBB:c.-79G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
28	-28 (A>C)	N/A	HBB:c.-78A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
29	-28 (A>G)	N/A	HBB:c.-78A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
30	-27 (A>T)	N/A	HBB:c.-77A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
31	-27 (-AA)	N/A	HBB:c.-77_-76delAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2175	-26 A>C	N/A	HBB:c.-76A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
32	-25 (G>C)	N/A	HBB:c.-75G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2565	-25 G>T	N/A	HBB:c.-75G>T	β	Causative	β-thalassaemia
282	105 bp deletion	N/A	HBB:c.-74_31del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
33	-23 to +23 (+45 bp duplication)	N/A	HBB:c.-73_-8del45	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
34	CAP +1 (A>C)	N/A	HBB:c.-50A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
35	CAP +8 (C>T)	N/A	HBB:c.-43C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
36	CAP +10 (-T)	N/A	HBB:c.-41delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
38	CAP +22 (G>A)	N/A	HBB:c.-29G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3345	CAP +22 (G>T)	N/A	HBB:c.-29G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2536	CAP +30 T>A	N/A	HBB:c.-21T>A	β	Causative	β-thalassaemia
39	CAP +33 (C>G)	N/A	HBB:c.-18C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2176	CAP +39 C>T	N/A	NG_000007.3:g.70583C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
40	CAP +40 to +43 (-AAAC)	N/A	HBB:c.-11_-8delAAAC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
41	CAP +45 (G>C)	N/A	HBB:c.-6G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
42	Init CD ATG>GTG	N/A	HBB:c.1A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
43	Init CD ATG>CTG	N/A	HBB:c.1A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
44	Init CD ATG>ACG	N/A	HBB:c.2T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
45	Init CD ATG>AGG	N/A	HBB:c.2T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
46	Init CD ATG>AAG	N/A	HBB:c.2T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
47	Init CD ATG>ATC	N/A	HBB:c.3G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
48	Init CD ATG>ATA	N/A	HBB:c.3G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
49	Init CD ATG>ATT	N/A	HBB:c.3G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
50	CD 1 (-G)	N/A	HBB:c.4delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
51	CD 2-4 (-9 bp, +31 bp)	N/A	HBB:c.7_15delinsCCTGAGGTGAAGTCTGCCTGAGGAGAAGTCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3014	CD 2 CAT>C-T	N/A	HBB:c.8delA	β	Causative	β-thalassaemia
52	CD 3 (+T)	N/A	HBB:c.9_10insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
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
54	CD 5 -CT	N/A	HBB:c.17_18delCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2180	CD 5/6 -TG	N/A	HBB:c.18_19delTG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
56	CD 6 (GAG>TAG)	N/A	HBB:c.19G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2184	CD 6-14 (-26 bp) (26 bp deletion)	N/A	HBB:c.20_45del26bp	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
57	CD 6 -A	N/A	HBB:c.20delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
58	CD 6 (-G)	N/A	HBB:c.20delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
59	CD 6-10 (-13 bp)	N/A	HBB:c.20_32del13	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
60	CD 7 GAG>TAG	N/A	HBB:c.22G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3288	CD7 GAG>G-G	N/A	HBB:c.23delA	β	Causative	β-thalassaemia
61	CD 8 (-AA)	N/A	HBB:c.25_26delAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2958	CD 7/8 (+G)	N/A	HBB:c.24_25insG	β	Causative	β-thalassaemia
2185	CD 8/9 +AGAA	N/A	HBB:c.27_28insAGAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
62	CD 8/9 +G	N/A	HBB:c.27_28insG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
63	CD 9 (+TA)	N/A	HBB:c.28_29insTA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
64	CD 9/10 (+T)	N/A	HBB:c.30_31insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
65	CD 10 (GCC>GCA)	N/A	HBB:c.33C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
66	CD 10 (-C)	N/A	HBB:c.33delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
67	CD 11 (-T)	N/A	HBB:c.36delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
154	CD 45/46(+A)	N/A	HBB:c.38_139insA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3248	CD 13 GCC>GTC [Ala>Val]	N/A	HBB:c.41C>T	β	Causative	β-thalassaemia
68	CD 14 (+T)	N/A	HBB:c.44_45insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2553	CD 14 CTG>C-G	N/A	HBB:c.44delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
69	CD 14/15 (+G)	N/A	HBB:c.45_46insG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
70	CD 15 (-T)	N/A	HBB:c.46delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
72	CD 15 TGG>TAG	N/A	HBB:c.47G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
71	CD 15/16 (+G)	N/A	HBB:c.48_49insG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
73	CD 15 TGG>TGA	N/A	HBB:c.48G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
74	CD 15/16 (-G)	N/A	HBB:c.49delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
75	CD 16 GGC>GG-	N/A	HBB:c.51delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
76	CD 16 GGC>GGT [Gly>Gly]	N/A	HBB:c.51C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
77	CD 17 (AAG>TAG)	N/A	HBB:c.52A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
80	CD 20/21 (-TGGA)	N/A	HBB:c.62_65delTGGA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
81	CD 20/21 (+G)	N/A	HBB:c.63_64insG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
83	CD 22 (GAA>TAA)	N/A	HBB:c.67G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
84	CD 22-24 ( -7 bp): (-AAGTTGG)	N/A	HBB:c.68_74delAAGTTGG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
85	CD 24 (-G, +CAC)	N/A	HBB:c.74delinsCAC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2174	CD 24 -G	N/A	HBB:c.74delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
86	CD 24 GGT>GGA [Gly>Gly]	N/A	HBB:c.75T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
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
87	CD 25/26 (+T)	N/A	HBB:c.78_79insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
89	CD 26 (GAG>TAG)	N/A	HBB:c.79G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
90	CD 26 (+T)	N/A	HBB:c.79_80insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
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
92	CD 27/28 (+C)	N/A	HBB:c.84_85insC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
93	CD 28 (-C)	N/A	HBB:c.85delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
95	CD 28/29 (-G)	N/A	HBB:c.88delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
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
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
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
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
101	IVS I-1 G>A	N/A	HBB:c.92+1G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
102	IVS I-1 (G>T)	N/A	HBB:c.92+1G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
103	IVS I-1 (G>C)	N/A	HBB:c.92+1G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
104	IVS I-2 (T>G)	N/A	HBB:c.92+2T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
105	IVS I-2 (T>C)	N/A	HBB:c.92+2T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
106	IVS I-2 (T>A)	N/A	HBB:c.92+2T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
107	IVS I-5 (G>C)	N/A	HBB:c.92+5G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
108	IVS I-5 (G>T)	N/A	HBB:c.92+5G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
109	IVS I-5 (G>A)	N/A	HBB:c.92+5G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
111	IVS I-6 (T>C)	N/A	HBB:c.92+6T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
112	IVS I-7 A>T	N/A	HBB:c.92+7A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3276	IVS I-7 A>G	N/A	HBB:c.92+7A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2173	IVS I-109 (-T)	N/A	HBB:c.93-22delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
113	IVS I-110 G>A	N/A	HBB:c.93-21G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
280	IVS I [3' end] (-25 bp) (25 bp deletion)	N/A	HBB:c.93-21_96del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
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
114	IVS I-116 (T>G)	N/A	HBB:c.93-15T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
115	IVS I-128 (T>G)	N/A	HBB:c.93-3T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
116	IVS I-129 (A>C)	N/A	HBB:c.93-2A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
117	IVS I-129 (A>G)	N/A	HBB:c.93-2A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
118	IVS I-130 G>C	N/A	HBB:c.93-1G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
119	IVS I-130 (G>A)	N/A	HBB:c.93-1G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
120	IVS I-130 (+1) or CD 30, (G>C); AGG>AGC (Arg>Ser)	N/A	HBB:c.93G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
126	CD 31 (-C)	N/A	HBB:c.94delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
130	CD 33-34 (-G)	N/A	HBB:c.102_103delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
132	CD 35 TAC>TGC [Tyr>Cys]	N/A	HBB:c.107A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
128	CD 35 (-C)	N/A	HBB:c.108del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
133	CD 35 TAC>TAA	N/A	HBB:c.108C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3023	CD 35 TAC>TAG	N/A	HBB:c.108C>G	β	Causative	β-thalassaemia
135	CD 36-39 (-8 bp)	N/A	HBB:c.111_118delTTGGACCC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
134	CD 36/37 (-T)	N/A	HBB:c.112delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
138	CD 37 (TGG>TAG)	N/A	HBB:c.113G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
136	CD 37 -G	N/A	HBB:c.114delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
137	CD 37 (TGG>TGA)	N/A	HBB:c.114G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
139	CD 37-39 (-7 bp): (-GACCCAG)	N/A	HBB:c.114_120delGACCCAG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
140	CD 38/39 (-C)	N/A	HBB:c.116delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
141	CD 38/39 (-CC)	N/A	HBB:c.116_117delCC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
142	CD 39 (CAG>TAG)	N/A	HBB:c.118C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2393	CD 39 -A	N/A	HBB:c.119delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
144	CD 40 (+86 bp) (HGSA)	N/A	HBB:c.121_122ins86	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
143	CD 40 (-G)	N/A	HBB:c.123delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
145	CD 40/41 (+T)	N/A	HBB:c.123_124insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
147	CD 41/42 (-TTCT or -CTTT)	N/A	HBB:c.124_127delTTCT \| HBB:c.126_129delCTTT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
146	CD 41 (-C)	N/A	HBB:c.126delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
148	CD 42/43 (+T)	N/A	HBB:c.129_130insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
149	CD 42/43 (+G)	N/A	HBB:c.129_130insG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
150	CD 43 (GAG>TAG)	N/A	HBB:c.130G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
151	CD 44 -C	N/A	HBB:c.135delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
152	CD 45 (-T)	N/A	HBB:c.136delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
153	CD 45 (+T)	N/A	HBB:c.136_137insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2960	CD 46/47 (+G)	N/A	HBB:c.142_142dupG	β	Causative	β-thalassaemia
155	CD 47 (+A)	N/A	HBB:c.143_144insA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
156	CD 47/48 (+ATCT)	N/A	HBB:c.146_147insATCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2187	CD 48 -T	N/A	HBB:c.146delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
157	CD 49 (-C)	N/A	HBB:c.149delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
158	CD 50 (-T)	N/A	HBB:c.153delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
159	CD 51 -C	N/A	HBB:c.154delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2959	CD 52 GAT>G-T	N/A	HBB:c.158delA	β	Causative	β-thalassaemia
160	CD 53 (-T)	N/A	HBB:c.161delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
161	CD 53/54 +G	N/A	HBB:c.162_163insG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
162	CD 54 -T	N/A	HBB:c.165delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
163	CD 54/55 +A	N/A	HBB:c.165_166insA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
164	CD 54-58 (-13bp)	N/A	HBB:c.165_177delTATGGGCAACCCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
165	CD 55 (-A)	N/A	HBB:c.166delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2990	CD 55-59 (-13 bp): (-ATGGGCAACCCTA)	N/A	HBB:c.166_178delATGGGCAACCCTA	β	Causative	β-thalassaemia
166	CD 56-60 +14 bp	N/A	HBB:c.170_171insGCAACCCTAAGGTG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
167	CD 57/58 (+C)	N/A	HBB:c.174_175insC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3311	CD 58 CCT>C-T	N/A	HBB:c.176delC	β	Causative	β-thalassaemia
168	CD 59 -A	N/A	HBB:c.178delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
169	CD 59 (AAG>TAG)	N/A	HBB:c.178A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3061	CD 59 (+T)	N/A	HBB:c.178_179insT	β	Causative	β-thalassaemia
172	CD 61 (AAG>TAG)	N/A	HBB:c.184A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
171	CD 61-63 (-7 bp): (-GGCTCAT)	N/A	HBB:c.186_192delGGCTAT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2431	CD 61/62 +65 bp	N/A	HBB:c.187_251dup	β	Causative	β-thalassaemia, Haemolytic anaemia
3100	CD 62-64 (-7bp): (-TCATGGC)	N/A	HBB:c.189_195delTCATGGC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
173	CD 64 (-G)	N/A	HBB:c.193delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
174	CD 66 (AAA>TAA)	N/A	HBB:c.199A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2188	CD 66 -A	N/A	HBB:c.201delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
175	CD 67 (-TG)	N/A	HBB:c.202_203delGT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3019	CD 68-70 (-7bp): (-TCGGTGC)	N/A	HBB:c.206_212delTCGGTGC	β	Causative	β-thalassaemia
2522	CD 69 GGT>G-T	N/A	HBB:c.209delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2189	CD 69 -T	N/A	HBB:c.210delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
176	CD 71/72 +T	N/A	HBB:c.216_217insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
177	CD 71/72 +A	N/A	HBB:c.216_217insA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2462	CD 71 -T	N/A	HBB:c.216delT	β	Causative	β-thalassaemia
178	CD 72-73 (-AGTGA, +T)	N/A	HBB: c.217_221delAGTGAinsT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2181	CD 72/73 +T	N/A	HBB:c.219_220insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
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
179	CD 74/75 (-C)	N/A	HBB:c.225delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
180	CD 76 GCT>--T (-GC)	N/A	HBB:c.229_230delGC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
181	CD 76 (-C)	N/A	HBB:c.230delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
182	CD 77/78 (-C)	N/A	HBB:c.232delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3299	CD 78/77 +C	N/A	HBB:c.235_236insC	β	Causative	β-thalassaemia
3225	CD 78/85 (-20bp)	N/A	HBB:c.237_256delGGACAACCTCAAGGGCACCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
183	CD 80/81 (-C)	N/A	HBB:c.243delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
184	CD 81-87 (-22 bp)	N/A	HBB:c.244_265del22	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
185	CD 82/83 (-G)	N/A	HBB:c.250delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2190	CD 83 (+65 bp duplication)	N/A	HBB:c.251_252ins65	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
186	CD 83-86 (-8 bp): (-CACCTTTG)	N/A	HBB:c.252_259del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2484	CD 83/84 +65 bp	N/A	HBB:c.252_253insNG_000007.3:g.70911_70975	β	Causative	β-thalassaemia
187	CD 84/85 (+C)	N/A	HBB:c.255_256insC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
188	CD 84-86 +T	N/A	HBB:c.258_259insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3253	CD 88 CTG>--G (HBB:c.265_266delCT)	N/A	HBB:c.265_266del	β	Causative	β-thalassaemia
189	CD 88 +T	N/A	HBB:c.266_267insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
190	CD 88 (-TG)	N/A	HBB:c.266_267del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3287	CD 89-93 (-14bp): (-AGTGAGCTGCACTG)	N/A	HBB:c.268_281delAGTGAGCTGCACTG	β	Causative	β-thalassaemia
191	CD 89/90 -GT	N/A	HBB:c.269_270delGT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
192	CD 90 GAG>TAG	N/A	HBB:c.271G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3044	CD 90 GAG>-AG	N/A	HBB:c.271delG	β	Causative	β-thalassaemia
3057	CD 90 (+24 bp duplication)	N/A	HBB:c.271_294dup	β	Causative	β-thalassaemia
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
194	CD 91 (+T)	N/A	HBB:c.275_276insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
196	CD 95 +A	N/A	HBB:c.287_288insA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2279	CD 102 AAC>ATCAC	N/A	HBB:c.308insTC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
200	IVS II-1 G>A	N/A	HBB:c.315+1G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
201	IVS II-1 G>C	N/A	HBB:c.315+1G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
202	IVS II-1 G>T	N/A	HBB:c.315+1G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
203	IVS II-2 T>C	N/A	HBB:c.315+2T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
204	IVS II-2 (T>A)	N/A	HBB:c.315+2T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
205	IVS II-2 (-T)	N/A	HBB:c.315+2del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2182	IVS II-2 -TGAGTCTATGGG	N/A	HBB:c.315+2_315+13delTGAGTCTATGGG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3226	IVS II-2 T>G	N/A	HBB:c.315+2T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
207	IVS II 4/5 -AG	N/A	NG_000007.3:g.71043_71044delAG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
208	IVS II-5 (G>C)	N/A	HBB:c.315+5G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
286	Asian Indian (619 bp deletion)	N/A	NG_000007.3:g.71609_72227del619	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
210	IVS II-613 C>T	N/A	HBB:c.316-238C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3391	IVS-II-648/649 (-T)	N/A	HBB:c.316-202del	β	Causative	β-thalassaemia
211	IVS II-654 C>T	N/A	HBB:c.316-197C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
212	IVS II-705 (T>G)	N/A	HBB:c.316-146T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
213	IVS II-726 A>G	N/A	HBB:c.316-125A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
214	IVS II-745 C>G	N/A	HBB:c.316-106C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
215	IVS II-761 A>G	N/A	HBB:c.316-90A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2200	IVS II-765 L1 insertion	N/A	HBB:c.316-86_316-85insCTGCTTTTATTTT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2183	IVS II-781 C>G	N/A	HBB:c.316-70C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
216	IVS II-815 (C>T)	N/A	HBB:c.316-36C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
217	IVS II-837 (T>G)	N/A	HBB:c.316-14T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
218	IVS II-843 (T>G)	N/A	HBB:c.316-8T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
219	IVS II-844 (C>A)	N/A	HBB:c.316-7C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
220	IVS II-844 (C>G)	N/A	HBB:c.316-7C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
221	IVS II-848 (C>A)	N/A	HBB:c.316-3C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
222	IVS II-848 (C>G)	N/A	HBB:c.316-3C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3045	IVS II-848 C>T	N/A	HBB: c.316-3C>T	β	Causative	β-thalassaemia
223	IVS II-849 (A>G)	N/A	HBB:c.316-2A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
224	IVS II-849 (A>C)	N/A	HBB:c.316-2A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
225	IVS II-850 G>C	N/A	HBB:c.316-1G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
226	IVS II-850 (G>A)	N/A	HBB:c.316-1G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
227	IVS II-850 (G>T)	N/A	HBB:c.316-1G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
228	IVS II-850 (-G)	N/A	HBB:c.316-1delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2191	CD 106 -12 bp [-Leu-Gly-Asn-Val]	N/A	HBB:c.319_330delCTGGGCAACGTG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
231	CD 106/107 (+G)	N/A	HBB:c.321_322insG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3344	CD 107 +G	N/A	HBB:c.323dupG	β	Causative	β-thalassaemia
3024	CD 111-115 (-12bp): (-TCTGTGTGCTGG)	N/A	HBB:c.335-346del12bp	β	Causative	β-thalassaemia
235	CD 112 (TGT>TGA)	N/A	HBB:c.339T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2192	CD 114 +TGTGCTG	N/A	HBB:c.345_346insTGTGCTG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
240	CD 116 +TGAT	N/A	NG_000007.3:g.71923_71924insTGAT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2194	CD 124-125 +A	N/A	HBB:c.375_376insA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2195	CD 125 -CCAGTG [-Pro-Val]	N/A	HBB:c.376_381delCCAGTG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2196	CD 130 TAT>TAA	N/A	HBB:c.393T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
258	CD 131 (CAG>TAG)	N/A	HBB:c.394C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2197	CD 131 +A	N/A	HBB:c.394_395insA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
259	CD 131/132 (+GCCT)	N/A	HBB:c.396_397insGCCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
262	CD 132 (AAA>TAA)	N/A	HBB:c.397A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3289	CD138 (+T)	N/A	HBB:c.416_417insT	β	Causative	β-thalassaemia
3361	CD 138/139 (+T)	N/A	HBB:c.417_418insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
266	CD 142 (-CC)	N/A	HBB:c.428_429delCC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
267	Terminal CD +6 C>G [CAP +1480]	N/A	HBB:c.*6C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2177	Terminal CD +32 A>C	N/A	HBB:*32A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
268	Terminal CD +47 C>G	N/A	HBB:c.*47C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
269	Terminal CD +90 -13 bp [CAP +1565 to +1577]	N/A	HBB:c.91_103delGCATCTGGATTCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3048	3' UTR, +C, -TGGATTCT	N/A	HBB:c.96_103delTGGATTCTinsC	β	Causative	β-thalassaemia
270	Poly A (A>C) AATAAA>CATAAA	N/A	HBB:c.*108A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
271	Poly A (A>G) AATAAA>GATAAA	N/A	HBB:c.*108A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
278	Poly A (-AATAA) AATAAA> -----A	N/A	HBB:c.108_112delAATAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
279	Poly A (-AATAAA) AATAAA > ------	N/A	HBB:c.108_112delAATAAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
277	Poly A -AT	N/A	HBB:c.109_110delAT \| HBB:c.110_111delTA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
272	Poly A (T>C) AATAAA>AACAAA	N/A	HBB:c.*110T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
273	Poly A (T>A) AATAAA>AAAAAA	N/A	HBB:c.*110A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
274	Poly A (A>G) AATAAA>AATGAA	N/A	HBB:c.*111A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2199	Poly A (-AA) AATAAA>AAT--A	N/A	NG_000007.3:g.72129_72130delAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3046	Poly(A) AATAAA>AAT--A	N/A	HBB:c.111_112delAA	β	Causative	β-thalassaemia
275	Poly A (A>G) AATAAA>AATAGA	N/A	HBB:c.*112A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2198	Poly A (A>T) AATAAA>AATATA	N/A	HBB:c.*112A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
276	Poly A (A>G) AATAAA>AATAAG	N/A	HBB:c.*113A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2564	3'UTR +1592 (A>G)	N/A	HBB:c.*118A>G	β	Causative	β-thalassaemia
2463	3' UTR +101 G>C	N/A	HBB:c.*233G>C	β	Causative	β-thalassaemia

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