#chrom	chromStart	chromEnd	HbVar.ID	commonName	HGVSname	mutationType
#coordinates using UCSC numbering system (chromStart zero based)
chr11	5204767	5204769	HbVar.256	Hb Malay	HBB:c.59A>G	substitution
chr11	5204744	5204746	HbVar.281	Hb Knossos	HBB:c.82G>T	substitution
chr11	5204740	5204742	HbVar.286	Hb Chesterfield	HBB:c.86T>G	substitution
chr11	5204734	5204736	HbVar.290	Hb Monroe	HBB:c.92G>C	substitution
chr11	5204514	5204516	HbVar.352	Hb Cagliari	HBB:c.182T>A	substitution
chr11	5203514	5203516	HbVar.485	Hb Showa-Yakushiji	HBB:c.332T>C	substitution
chr11	5203499	5203501	HbVar.495	Hb Hradec Kralove (or Hb HK)	HBB:c.347C>A	substitution
chr11	5203466	5203468	HbVar.521	Hb Dhonburi	HBB:c.380T>G	substitution
chr11	5204976	5204978	HbVar.649	-101 (C->T) beta+ (silent)	HBB:c.-151C>T	substitution
chr11	5204401	5204403	HbVar.698	Hb Medicine Lake	HBB:c.[295G>A ; 98T>A]	substitution
chr11	5204598	5204600	HbVar.698	Hb Medicine Lake	HBB:c.[295G>A ; 98T>A]	substitution
chr11	5204967	5204969	HbVar.752	-92 (C->T) beta+ (mild)	HBB:c.-142C>T	substitution
chr11	5204965	5204967	HbVar.754	-90 (C->T) beta+	HBB:c.-140C>T	substitution
chr11	5204963	5204965	HbVar.755	-88 (C->A) beta+	HBB:c.-138C>A	substitution
chr11	5204963	5204965	HbVar.756	-88 (C->T) beta+	HBB:c.-138C>T	substitution
chr11	5204962	5204964	HbVar.757	-87 (C->A) beta+	HBB:c.-137C>A	substitution
chr11	5204962	5204964	HbVar.758	-87 (C->G) beta+	HBB:c.-137C>G	substitution
chr11	5204962	5204964	HbVar.759	-87 (C->T) beta+	HBB:c.-137C>T	substitution
chr11	5204961	5204963	HbVar.760	-86 (C->A) beta+	HBB:c.-136C>A	substitution
chr11	5204961	5204963	HbVar.761	-86 (C->G) beta+	HBB:c.-136C>G	substitution
chr11	5204907	5204909	HbVar.762	-32 (C->A) beta+	HBB:c.-82C>A	substitution
chr11	5204906	5204908	HbVar.763	-31 (A->C) beta+	HBB:c.-81A>C	substitution
chr11	5204906	5204908	HbVar.764	-31 (A->G) beta+	HBB:c.-81A>G	substitution
chr11	5204905	5204907	HbVar.765	-30 (T->A) beta+	HBB:c.-80T>A	substitution
chr11	5204905	5204907	HbVar.766	-30 (T->C) beta (0 or + unclear)	HBB:c.-80T>C	substitution
chr11	5204904	5204906	HbVar.767	-29 (A->G) beta+	HBB:c.-79A>G	substitution
chr11	5204903	5204905	HbVar.768	-28 (A->C) beta+	HBB:c.-78A>C	substitution
chr11	5204903	5204905	HbVar.769	-28 (A->G) beta+	HBB:c.-78A>G	substitution
chr11	5204875	5204877	HbVar.770	CAP +1 (A->C) beta+	HBB:c.-50A>C	substitution
chr11	5204866	5204868	HbVar.771	5'UTR; +10 (-T) beta+ (silent)	HBB:c.-41delT	deletions
chr11	5204854	5204856	HbVar.772	5'UTR; +22 (G->A) beta+	HBB:c.-29G>A	substitution
chr11	5204843	5204845	HbVar.773	5'UTR; +33 (C->G) beta+ (silent)	HBB:c.-18C>G	substitution
chr11	5204833	5204838	HbVar.774	5'UTR; +43 to +40 (-AAAC) beta+	HBB:c.-11_-8delAAAC	deletions
chr11	5204825	5204827	HbVar.775	Initiation codon ATG->GTG beta0	HBB:c.1A>G	substitution
chr11	5204824	5204826	HbVar.776	Initiation codon ATG->ACG beta0	HBB:c.2T>C	substitution
chr11	5204824	5204826	HbVar.777	Initiation codon ATG->AGG beta0	HBB:c.2T>G	substitution
chr11	5204823	5204825	HbVar.778	Initiation codon ATG->ATA beta0	HBB:c.3G>A	substitution
chr11	5204823	5204825	HbVar.779	Initiation codon ATG->ATC beta0	HBB:c.3G>C	substitution
chr11	5204823	5204825	HbVar.780	Initiation codon ATG->ATT beta0	HBB:c.3G>T	substitution
chr11	5204822	5204824	HbVar.781	Codon 1 (-G); GTG(Val)->-TG beta0	HBB:c.4delG	deletions
chr11	5204810	5204822	HbVar.782	Codons 2/3/4 (-9 bp; +31 bp); beta0	HBB:c.7_15delinsCCTGAGGTGAAGTCTGCCTGAGGAGAAGTCT	insertions,deletions
chr11	5204811	5204821	HbVar.782	Codons 2/3/4 (-9 bp; +31 bp); beta0	HBB:c.7_15delinsCCTGAGGTGAAGTCTGCCTGAGGAGAAGTCT	insertions,deletions
chr11	5204808	5204811	HbVar.783	Codon 5 (-CT); CCT(Pro)->C-- beta0	HBB:c.17_18delCT	deletions
chr11	5204806	5204808	HbVar.784	Codon 6 (-A); GAG(Glu)->G-G beta0	HBB:c.20delA	deletions
chr11	5204800	5204803	HbVar.785	Codon 8 (-AA); AAG(Lys)->--G beta0	HBB:c.25_26delAA	deletions
chr11	5204798	5204801	HbVar.786	Codons 8/9 (+G); AAG TCT(Lys;Ser)->AAG G TCT beta0	HBB:c.27_28insG	insertions
chr11	5204795	5204798	HbVar.787	Codons 9/10 (+T); TCT GCC(Ser;Ala)->TCT T GCC beta0	HBB:c.30_31insT	insertions
chr11	5204793	5204795	HbVar.788	Codon 10 (C->A); GCC(Ala)->GCA(Ala) beta+	HBB:c.33C>A	substitution
chr11	5204790	5204792	HbVar.789	Codon 11 (-T); GTT(Val)->GT- beta0	HBB:c.36delT	deletions
chr11	5204780	5204783	HbVar.790	Codons 14/15 (+G); CTG TGG(Leu;Trp)->CTG G TGG beta0	HBB:c.45_46insG	insertions
chr11	5204779	5204781	HbVar.791	Codon 15 (G->A); TGG(Trp)->TAG(stop codon) beta0	HBB:c.47G>A	substitution
chr11	5204778	5204780	HbVar.793	Codon 15 (G->A); TGG(Trp)->TGA(stop codon) beta0	HBB:c.48G>A	substitution
chr11	5204780	5204782	HbVar.798	Codon 15 (-T); TGG(Trp)->-GG beta0	HBB:c.46delT	deletions
chr11	5204775	5204777	HbVar.799	Codon 16 (-C); GGC(Gly)->GG- beta0	HBB:c.51delC	deletions
chr11	5204774	5204776	HbVar.800	Codon 17 (A->T); AAG(Lys)->TAG(stop codon) beta0	HBB:c.52A>T	substitution
chr11	5204759	5204761	HbVar.802	Codon 22 (G->T); GAA(Glu)->TAA(stop codon) beta0	HBB:c.67G>T	substitution
chr11	5204752	5204760	HbVar.803	Codons 22/23/24 (GAA GTT GGT; Glu Val Gly); deletion of -AAGTTGG beta0	HBB:c.68_74delAAGTTGG	deletions
chr11	5204751	5204756	HbVar.804	Codon 24; GGT(Gly); (-G; +CAC) beta0	HBB:c.74delinsCAC	insertions,deletions
chr11	5204752	5204755	HbVar.804	Codon 24; GGT(Gly); (-G; +CAC) beta0	HBB:c.74delinsCAC	insertions,deletions
chr11	5204751	5204753	HbVar.805	Codon 24 (T->A); GGT(Gly)->GGA(Gly) beta+	HBB:c.75T>A	substitution
chr11	5204748	5204752	HbVar.806	Codons 24/25 (-GGT); GGT GGT(Gly-Gly)->---GGT(Gly); beta0	HBB:c.76_78delGGT	deletions
chr11	5204747	5204750	HbVar.807	Codons 25/26 (+T); GGT GAG(Gly-Glu)->GGT T GAG(Gly-Term) beta0	HBB:c.78_79insT	insertions
chr11	5204747	5204749	HbVar.808	Codon 26 (G->T); GAG(Glu)->TAG(stop codon) beta0	HBB:c.79G>T	substitution
chr11	5204746	5204749	HbVar.809	Codon 26 (+T); GAG(Glu)->GTAG beta0	HBB:c.79_80insT	insertions
chr11	5204741	5204744	HbVar.810	Codons 27/28 (+C); GCC CTG(Ala Ser)->GCC C CTG beta0	HBB:c.84_85insC	insertions
chr11	5204741	5204743	HbVar.811	Codon 28 (-C); CTG(Leu)->-TG beta0	HBB:c.85delC	deletions
chr11	5204738	5204740	HbVar.813	Codons 28/29 (-G); CTG GGC(Leu Gly)->CTG -GC beta0	HBB:c.88delG	deletions
chr11	5204736	5204738	HbVar.814	IVS-I (-3) or codon 29 (C->T); GGC(Gly)->GGT(Gly) beta+	HBB:c.90C>T	substitution
chr11	5204735	5204737	HbVar.815	IVS-I (-2) or codon 30 (A->G); AG^GTTGGT->GG^GTTGGT Probably beta0	HBB:c.91A>G	substitution
chr11	5204734	5204736	HbVar.816	IVS-I (-1) or codon 30 (G->A) AG^GTTGGT->AA^GTTGGT beta0	HBB:c.92G>A	substitution
chr11	5204733	5204735	HbVar.817	IVS-I-1 (G->A); AG^GTTGGT->AGATTGGT beta0	HBB:c.92+1G>A	substitution
chr11	5204733	5204735	HbVar.818	IVS-I-1 (G->T); AG^GTTGGT->AGTTTGGT beta0	HBB:c.92+1G>T	substitution
chr11	5204732	5204734	HbVar.819	IVS-I-2 (T->A); AG^GTTGGT->AGGATGGT beta0	HBB:c.92+2T>A	substitution
chr11	5204732	5204734	HbVar.820	IVS-I-2 (T->C); AG^GTTGGT->AGACTGGT beta0	HBB:c.92+2T>C	substitution
chr11	5204732	5204734	HbVar.821	IVS-I-2 (T->G); AG^GTTGGT->AGGGTGGT beta0	HBB:c.92+2T>G	substitution
chr11	5204729	5204731	HbVar.822	IVS-I-5 (G->A) beta+ (severe)	HBB:c.92+5G>A	substitution
chr11	5204729	5204731	HbVar.823	IVS-I-5 (G->A) plus the Corfu deletion (deltabeta-thal) beta+	HBB:c.92+5G>A	substitution
chr11	5204729	5204731	HbVar.824	IVS-I-5 (G->C) beta+ (severe)	HBB:c.92+5G>C	substitution
chr11	5204729	5204731	HbVar.825	IVS-I-5 (G->T) beta+ (severe)	HBB:c.92+5G>T	substitution
chr11	5204728	5204730	HbVar.826	IVS-I-6 (T->C); the Portuguese type beta+	HBB:c.92+6T>C	substitution
chr11	5204624	5204626	HbVar.827	IVS-I-110 (G->A) beta+; the mutation is 21 nucleotides 5' to the acceptor splice site AG^GC	HBB:c.93-21G>A	substitution
chr11	5204618	5204620	HbVar.828	IVS-I-116 (T->G) beta0; normal mRNA estimated at less than 1.0%	HBB:c.93-15T>G	substitution
chr11	5204606	5204608	HbVar.829	IVS-I-128 (T->G); TTAG^GCTG->TGAG^GCTG beta+	HBB:c.93-3T>G	substitution
chr11	5204604	5204606	HbVar.830	IVS-I-130 (G->A); TTAG^GCTG->TTAA GCTG beta0	HBB:c.93-1G>A	substitution
chr11	5204604	5204606	HbVar.831	IVS-I-130 (G->C); TTAG^GCTG->TTAC GCTG beta0	HBB:c.93-1G>C	substitution
chr11	5204603	5204605	HbVar.833	Codon 30 (AGG->AGC) [IVS-I-130 (+1)] beta0	HBB:c.93G>C	substitution
chr11	5204604	5204622	HbVar.834	IVS-I, 3' end; -17 bp beta0	HBB:c.93-17_93-1delTATTTTCCCACCCTTAG	deletions
chr11	5204602	5204604	HbVar.835	Codon 31 (-C); CTG->-TG beta0	HBB:c.94delC	deletions
chr11	5204602	5204605	HbVar.836	Codons 31/32 (+CGG) beta0 (dominant beta0-thal)	HBB:c.93_94insCGG	insertions
chr11	5204594	5204598	HbVar.837	Codons 33/34 (-GTG); GTG GTC(Val*Val)->GTC - - -(Val) beta0	HBB:c.100_102delGTG	deletions
chr11	5204588	5204590	HbVar.838	Codon 35 (C->A); TAC->TAA (Tyr->Term codon) beta0	HBB:c.108C>A	substitution
chr11	5204588	5204590	HbVar.839	Codon 35 (-C); TAC(Tyr)->TA- beta0	HBB:c.108delC	deletions
chr11	5204584	5204586	HbVar.840	Codons 36/37 (-T); CCT TGG(Pro-Trp)->CCT -GG beta0	HBB:c.112delT	deletions
chr11	5204582	5204584	HbVar.841	Codon 37 (G->A); TGG(Trp)->TGA(stop codon) beta0	HBB:c.114G>A	substitution
chr11	5204576	5204584	HbVar.842	Codons 37/38/39 (-7 nts) beta0	HBB:c.114_120delGACCCAG	deletions
chr11	5204578	5204580	HbVar.843	Codons 38/39 (-C); ACC CAG(Thr Gln)->ACC -AG beta0	HBB:c.118delC	deletions
chr11	5204579	5204582	HbVar.844	Codons 38/39 (-CC); ACC CAG(Thr-Glu)->A- - CAG beta0	HBB:c.116_117delCC	deletions
chr11	5204578	5204580	HbVar.845	Codon 39 (C->T); CAG(Gln)->TAG(stop codon) beta0	HBB:c.118C>T	substitution
chr11	5204573	5204575	HbVar.846	Codon 40 (-G); AGG(Arg)->AG- beta0	HBB:c.123delG	deletions
chr11	5204572	5204575	HbVar.847	Codons 40/41 (+T); AGG TTC(Arg-Phe)->AGG T TTC beta0	HBB:c.123_124insT	insertions
chr11	5204570	5204572	HbVar.848	Codon 41 (-C); TTC(Phe)->TT- beta0	HBB:c.126delC	deletions
chr11	5204569	5204574	HbVar.849	Codons 41/42 (-TTCT); TTCTTT(Phe-Phe)->- - - -TT beta0	HBB:c.124_127delTTCT	deletions
chr11	5204566	5204569	HbVar.850	Codons 42/43 (+G); TTT GAG(Phe Glu)->TTT G GAG beta0	HBB:c.129_130insG	insertions
chr11	5204566	5204569	HbVar.851	Codons 42/43 (+T) TTT GAG(Phe Glu)->TTT TGA G(Phe;stop codon) beta0	HBB:c.129_130insT	insertions
chr11	5204566	5204568	HbVar.853	Codon 43 (G->T); GAG(Glu)->TAG (stop codon) beta0	HBB:c.130G>T	substitution
chr11	5204561	5204563	HbVar.854	Codon 44 (-C); TCC(Ser)->TC- beta0	HBB:c.135delC	deletions
chr11	5204560	5204562	HbVar.855	Codon 45 (-T); TTT(Phe)->-TT beta0	HBB:c.136delT	deletions
chr11	5204552	5204555	HbVar.856	Codon 47 (+A); GAT(Asp)->GAA(Glu) T beta0	HBB:c.143_144insA	insertions
chr11	5204549	5204552	HbVar.857	Codons 47/48 (+ATCT); GAT CTG(Asp Leu)->GAT CTATCTG beta0	HBB:c.146_147insATCT	insertions
chr11	5204542	5204544	HbVar.858	Codon 51 (-C); CCT(Pro)->-CT beta0	HBB:c.154delC	deletions
chr11	5204533	5204536	HbVar.859	53/54 (+G); GCT GTT(Ala-Val)->GCT G GTT beta0	HBB:c.162_163insG	insertions
chr11	5204533	5204536	HbVar.860	53/54 (+G); GCT GTT(Ala-Val)->GCT G GTT beta0	HBB:c.162_163insG	insertions
chr11	5204531	5204533	HbVar.861	Codon 54 (-T); GTT(Val)->GT- beta0	HBB:c.165delT	deletions
chr11	5204530	5204533	HbVar.862	Codons 54/55 (+A); GTT ATG(Val Met)->GTT A ATG beta0	HBB:c.165_166insA	insertions
chr11	5204521	5204524	HbVar.864	Codons 57/58 (+C); AAC CCT(Asn Pro)->AAC C CCT beta0	HBB:c.174_175insC	insertions
chr11	5204518	5204520	HbVar.865	Codon 59 (-A); AAG(Lys)->-AG beta0	HBB:c.178delA	deletions
chr11	5204512	5204514	HbVar.866	Codon 61 (A->T); AAG(Lys)->TAG(stop codon) beta0	HBB:c.184A>T	substitution
chr11	5204503	5204505	HbVar.867	Codon 64 (-G); GGC(Gly)->-GC beta0	HBB:c.193delG	deletions
chr11	5204493	5204496	HbVar.868	Codon 67 (-TG); GTG(Val)->--G beta0	HBB:c.202_203delGT	deletions
chr11	5204479	5204482	HbVar.869	Codons 71/72 (+A); TTT AGT(Phe Ser)->TTT A AGT; beta0	HBB:c.216_217insA	insertions
chr11	5204479	5204482	HbVar.870	Codons 71/72 (+T); TTT AGT(Phe Ser)->TTT T AGT beta0	HBB:c.216_217insT	insertions
chr11	5204474	5204482	HbVar.871	Codons 72/73; -AGTGA, +T; AGT GAT(Ser-Asp)->---- TT beta0	HBB:c.217_221delinsT	insertions,deletions
chr11	5204475	5204481	HbVar.871	Codons 72/73; -AGTGA, +T; AGT GAT(Ser-Asp)->---- TT beta0	HBB:c.217_221delinsT	insertions,deletions
chr11	5204471	5204473	HbVar.873	Codons 74/75 (-C); GGC CTG(Gly Leu)->GG- CTG beta0	HBB:c.225delC	deletions
chr11	5204466	5204468	HbVar.874	Codon 76 (-C); GCT(Ala)->G-T beta0	HBB:c.230delC	deletions
chr11	5204446	5204448	HbVar.875	Codons 82/83 (-G); AAG GGC(Lys Gly)->AAG -GC beta0	HBB:c.250delG	deletions
chr11	5204440	5204443	HbVar.876	Codons 84/85 (+C); ACC TTT(Thr Phe)->ACC C TTT beta0	HBB:c.255_256insC	insertions
chr11	5204437	5204440	HbVar.877	Codons 84/85/86 (+T); ACC TTT GCC(Thr Phe Ala)->ACC TTT T GCC beta0	HBB:c.258_259insT	insertions
chr11	5204429	5204432	HbVar.878	Codon 88 (+T); CTG(Leu)->CTTG beta0	HBB:c.266_267insT	insertions
chr11	5204426	5204429	HbVar.879	Codons 89/90 (-GT); AGT GAG(Ser Glu)->A-- GAG beta0	HBB:c.269_270delGT	deletions
chr11	5204425	5204427	HbVar.880	Codon 90 (G->T); GAG(Glu)->TAG(stop codon) beta0	HBB:c.271G>T	substitution
chr11	5204412	5204415	HbVar.881	Hb Agnana	HBB:c.283_284insTG	insertions
chr11	5204408	5204411	HbVar.882	Codon 95 (+A); AAG(Lys)->AAAG beta0	HBB:c.287_288insA	insertions
chr11	5204392	5204398	HbVar.883	Codon 100; -CTT, +TCTGAGAACTT beta0 (dominant type)	HBB:c.301_303delinsTCTGAGAACTT	insertions,deletions
chr11	5204393	5204397	HbVar.883	Codon 100; -CTT, +TCTGAGAACTT beta0 (dominant type)	HBB:c.301_303delinsTCTGAGAACTT	insertions,deletions
chr11	5204380	5204382	HbVar.884	IVS-II-1 (G->A); beta0	HBB:c.315+1G>A	substitution
chr11	5204380	5204382	HbVar.885	IVS-II-1 (G->C); beta0	HBB:c.315+1G>C	substitution
chr11	5204377	5204382	HbVar.886	IVS-II-2,3 (+11, -2); beta0	HBB:c.315+2_315+3delinsACGTTCTCTGA	insertions,deletions
chr11	5204378	5204381	HbVar.886	IVS-II-2,3 (+11, -2); beta0	HBB:c.315+2_315+3delinsACGTTCTCTGA	insertions,deletions
chr11	5204376	5204379	HbVar.887	IVS-II-4,5 (-AG); beta (0 or + unclear)	HBB:c.315+4_315+5delAG	deletions
chr11	5204376	5204378	HbVar.888	IVS-II-5 (G->C) beta+ (severe)	HBB:c.315+5G>C	substitution
chr11	5203727	5203729	HbVar.889	IVS-II-654 (C->T); AAGGCAATA->AAG^GTAATA beta+ (severe)	HBB:c.316-197C>T	substitution
chr11	5203676	5203678	HbVar.890	IVS-II-705 (T->G); GATGTAAGA->GAG^GTAAGA beta+	HBB:c.316-146T>G	substitution
chr11	5203636	5203638	HbVar.891	IVS-II-745 (C->G); CAGCTACCAT->CAG^GTACCAT beta+	HBB:c.316-106C>G	substitution
chr11	5203544	5203546	HbVar.895	IVS-II-837 (T->G); beta+ or beta0	HBB:c.316-14T>G	substitution
chr11	5203538	5203540	HbVar.897	IVS-II-843 (T->G); beta+	HBB:c.316-8T>G	substitution
chr11	5203537	5203539	HbVar.898	IVS-II-844 (C->G); beta+	HBB:c.316-7C>G	substitution
chr11	5203533	5203535	HbVar.901	IVS-II-848 (C->A); beta+	HBB:c.316-3C>A	substitution
chr11	5203533	5203535	HbVar.938	IVS-II-848 (C->G); beta+	HBB:c.316-3C>G	substitution
chr11	5203532	5203534	HbVar.939	IVS-II-849 (A->C); beta0	HBB:c.316-2A>C	substitution
chr11	5203532	5203534	HbVar.940	IVS-II-849 (A->G); beta0	HBB:c.316-2A>G	substitution
chr11	5203531	5203533	HbVar.941	IVS-II-850 (-G); beta0	HBB:c.316-1delG	deletions
chr11	5203531	5203533	HbVar.942	IVS-II-850 (G->A); beta0	HBB:c.316-1G>A	substitution
chr11	5203531	5203533	HbVar.943	IVS-II-850 (G->C); beta0	HBB:c.316-1G>C	substitution
chr11	5203531	5203533	HbVar.944	IVS-II-850 (G->T); beta0	HBB:c.316-1G>T	substitution
chr11	5203524	5203527	HbVar.945	Codons 106/107 (+G); CTG GGC(Leu Gly)->CTG G GC beta0	HBB:c.321_322insG	insertions
chr11	5203509	5203522	HbVar.946	Codons 108/109/110/111/112 (-12 bp); beta0	HBB:c.326_337delACGTGCTGGTCT	deletions
chr11	5203518	5203520	HbVar.947	Hb Manhattan	HBB:c.328delG	deletions
chr11	5203507	5203509	HbVar.948	Codon 112 (T->A); TGT(Cys)->TGA(stop codon) beta0	HBB:c.339T>A	substitution
chr11	5203501	5203506	HbVar.949	Hb Geneva	HBB:c.343_344delinsG	insertions,deletions
chr11	5203502	5203505	HbVar.949	Hb Geneva	HBB:c.343_344delinsG	insertions,deletions
chr11	5203482	5203485	HbVar.950	Codons 120/121 (+A); AAA GAA(Lys-Glu)->AAA A GAA beta0 (mild dominant type of beta-thal)	HBB:c.363_364insA	insertions
chr11	5203482	5203484	HbVar.951	Codon 121 (G->T); GAA(Glu)->TAA(stop codon) beta0 (dominant beta-thal trait)	HBB:c.364G>T	substitution
chr11	5203476	5203478	HbVar.952	Hb Makabe	HBB:c.370delA	deletions
chr11	5203468	5203478	HbVar.953	Codons 123/124/125 (-ACCCCACC); Dominant inclusion body beta-thal trait	HBB:c.370_378delACCCCACCA	deletions
chr11	5203471	5203473	HbVar.954	Codon 124 (-A); CCA(Pro)->CC- Dominant, inclusion body beta-thal trait	HBB:c.375delA	deletions
chr11	5203468	5203470	HbVar.955	Codon 125 (-A); CCA(Pro)->CC- Dominant inclusion body beta-thal trait	HBB:c.378delA	deletions
chr11	5203467	5203470	HbVar.956	Codons 124-126 (+CCA); Dominant inclusion body beta-thal trait	HBB:c.378_379insCCA	insertions
chr11	5203466	5203468	HbVar.957	Hb Vercelli	HBB:c.380delT	deletions
chr11	5203450	5203468	HbVar.958	Codons 126-131 (Val-Gln-Ala-Ala-Thr-Gln) (-17 bp); GTG CAG GCT GCC TAT CAG->G beta0	HBB:c.380_396delTGCAGGCTGCCTATCAG	deletions
chr11	5203463	5203465	HbVar.959	Codon 127 (A->C); CAG(Gln)->CCG(Pro) Dominant inclusion body beta-thal trait	HBB:c.383A>C	substitution
chr11	5203463	5203465	HbVar.960	Codon 127 (A->G); CAG(Gln)->CGG(Arg) Dominant inclusion body beta-thal trait	HBB:c.383A>G	substitution
chr11	5203464	5203466	HbVar.961	Codon 127 (C->T); CAG(Gln)->TAG(stop codon) beta0 (dominant, inclusion body, beta-thal trait)	HBB:c.382C>T	substitution
chr11	5203461	5203465	HbVar.962	Codons 127/128 (-AGG); CAG GCT(Gln Ala)->C--- CT(Pro) beta0	HBB:c.383_385delAGG	deletions
chr11	5203439	5203451	HbVar.963	Codons 128/129 (-4, -GCTG; +5, +CCACA) Codons 132-135 (-11, -AAAGTGGTGGC) Dominant inclusion body beta-thal trait	HBB:c.[385_388delinsCCACA; 397_407delAAAGTGGTGGC]	insertions,deletions
chr11	5203458	5203463	HbVar.963	Codons 128/129 (-4, -GCTG; +5, +CCACA) Codons 132-135 (-11, -AAAGTGGTGGC) Dominant inclusion body beta-thal trait	HBB:c.[385_388delinsCCACA; 397_407delAAAGTGGTGGC]	insertions,deletions
chr11	5203458	5203464	HbVar.963	Codons 128/129 (-4, -GCTG; +5, +CCACA) Codons 132-135 (-11, -AAAGTGGTGGC) Dominant inclusion body beta-thal trait	HBB:c.[385_388delinsCCACA; 397_407delAAAGTGGTGGC]	insertions,deletions
chr11	5203432	5203445	HbVar.964	Codons 134-137 [-(G)TGGCTGGTGT(G) and +(G)GCAG(G)]; Dominant inclusion body beta-thal trait	HBB:c.404_413delinsGCAG	insertions,deletions
chr11	5203433	5203444	HbVar.964	Codons 134-137 [-(G)TGGCTGGTGT(G) and +(G)GCAG(G)]; Dominant inclusion body beta-thal trait	HBB:c.404_413delinsGCAG	insertions,deletions
chr11	5203396	5203398	HbVar.965	+1480 (C->G); beta+ (silent; only expressed in compound heterozygotes)	HBB:c.*+6C>G	substitution
chr11	5203299	5203313	HbVar.966	3'UTR (-GCATCTGGATTCT) beta (0 or + unclear)	HBB:c.*+91_*+103delGCATCTGGATTCT	deletions
chr11	5203306	5203308	HbVar.967	T->C; 12 nts 5' to the poly A site or +1570 (the number is relative to the Cap site) beta+	HBB:c.*+96T>C	substitution
chr11	5203292	5203294	HbVar.968	Poly A (T->C); AATAAA->AACAAA beta+	HBB:c.*+110T>C	substitution
chr11	5203291	5203293	HbVar.969	Poly A (A->G); AATAAA->AATGAA beta+	HBB:c.*+111A>G	substitution
chr11	5203290	5203292	HbVar.970	Poly A (A->G); AATAAA->AATAGA beta+	HBB:c.*+112A>G	substitution
chr11	5203289	5203291	HbVar.971	Poly A (A->G); AATAAA->AATAAG beta+	HBB:c.*+113A>G	substitution
chr11	5203291	5203294	HbVar.972	Poly A (-AT or -TA); AATAAA->A--AAA beta+	HBB:c.[*+109_*+110delAT or *+110_*+111delTA]	deletions
chr11	5203292	5203295	HbVar.972	Poly A (-AT or -TA); AATAAA->A--AAA beta+	HBB:c.[*+109_*+110delAT or *+110_*+111delTA]	deletions
chr11	5203290	5203296	HbVar.973	Poly A (-AATAA); AATAAA->-----A beta+	HBB:c.*+108_*+112delAATAA	deletions
chr11	5204600	5204626	HbVar.974	25 bp deletion beta0	HBB:c.93-21_96del	deletions
chr11	5204707	5204752	HbVar.975	44 bp deletion beta0	HBB:c.76_92+27del	deletions
chr11	5204795	5204902	HbVar.976	105 bp deletion beta0	HBB:c.-74_31del	deletions
chr11	5204709	5205003	HbVar.977	290 bp deletion beta0	HBB:c.-176_92+25del	deletions
chr11	5204798	5205331	HbVar.978	532 bp deletion beta0	HBB:c.-504_28del	deletions
chr11	5203193	5203813	HbVar.979	619 bp deletion beta0	U01317.1:g.63201_63819del619	deletions
chr11	5203968	5205362	HbVar.980	1,393 bp deletion beta0	U01317.1:g.61652_63044del1393	deletions
chr11	5204256	5205861	HbVar.981	1,605 bp deletion the Croatian deletion beta0	U01317.1:g.61153_62756del1605	deletions
chr11	5194738	5207351	HbVar.987	12,620 bp deletion; the Dutch deletion beta0	U01317.1:g.59664_72285del12622	deletions
chr11	5266881	5266884	HbVar.1200	Codon 116 (+TGAT)	HBB:c.-61837_-61836insTGAT	insertions
chr11	5203620	5203622	HbVar.2508	IVS II-761 A>G	HBB:c.316-90A>G	substitution
chr11	5204856	5204858	HbVar.2509	5'UTR; +20 (C>T) beta+ 	HBB:c.-31C>T	substitution
chr11	5203449	5203452	HbVar.2510	Codons 131/132 (-GA)	HBB:c.396_397delGA	deletions
chr11	5204421	5204423	HbVar.2511	Hb MorganTown	HBB:c.275delT	deletions
chr11	5204968	5204970	HbVar.2517	-93 C>G	HBB:c.-143C>G	substitution
chr11	5204605	5204607	HbVar.2527	IVS-I-129 (A>G)	HBB:c.93-2A>G	substitution
chr11	5204518	5204520	HbVar.2528	Cd59 (AAG>TAG)	HBB:c.178A>T	substitution
chr11	5204583	5204585	HbVar.2529	Cd37 (TGG>TAG)	HBB:c.113G>A	substitution
chr11	5204824	5204826	HbVar.2530	Initiation codon T>A	HBB:c.2T>A	substitution
chr11	5204464	5204466	HbVar.2533	Cd77/78 (-C)	HBB:c.232delC	deletions
chr11	5204379	5204381	HbVar.2534	IVS-II-2 (T>A)	HBB:c.315+2T>A	substitution
chr11	5204900	5204902	HbVar.2535	-25 (G>C)	HBB:c.-75G>C	substitution
chr11	5204907	5204909	HbVar.2536	-32 (C>T)	HBB:c.-82C>T	substitution
chr11	5204901	5204904	HbVar.2537	-27 (-AA)	HBB:c.-77_-76delAA	deletions
chr11	5204466	5204469	HbVar.2538	Cd76 (-GC)	HBB:c.229_230delGC	deletions
chr11	5203449	5203451	HbVar.2548	Cd132A>T	HBB c.397A>T	substitution