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LOVD - Variant listings for HBD

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+?/? 1 HBD:c.-105T>C - - - - HBD_01417 HbVar delta+ thal dbSNP;Papadakis M et al.; DNA SEQ -55 (T->C) delta+ 1 - D013789 -
+?/? 1 HBD:c.-115A>G - - - - HBD_01416 HbVar delta+ thal dbSNP;Papadakis M et al.; DNA SEQ -65 (A->G) delta+ 1 - D013789 -
+?/? 1 HBD:c.-126A>T - - - - HBD_01435 HbVar delta0 thal (OMIM 0044);dbSNP;Angioletti MD et al.; DNA SEQ -76 (A->T) delta0 1 - D013789 -
+?/? 1 HBD:c.-127T>C - - - - HBD_01415 HbVar delta (0 or + unclear) thal (OMIM 0030);dbSNP;Matsuda M et al.;Nakamura T et al.;Ohta Y et al.; Protein Amino -77 (T->C) delta (0 or + unclear) 1 - D013789 -
+?/? 1 HBD:c.-80T>C - - - - HBD_01438 HbVar delta+ thal dbSNP;Papachatzopoulou A (E-6551-2010);Papadakis M, (B-1874-2010); DNA SEQ -30 (T->C); delta+ 1 - D013789 -
+?/? 1 HBD:c.-81A>G - - - - HBD_01437 HbVar delta+ thal (OMIM 0046);dbSNP;Frischknecht H,; HbVar A-2391-2010;Frischknecht H et al.; Protein Amino -31 (A->G) delta+ 1 - D013789 -
+?/? 1 HBD:c.-86C>A - - - - HBD_01418 HbVar delta+ thal dbSNP;Papadakis M et al.; DNA SEQ -36 (C->A); probably delta+ 1 - D013789 -
+?/? 1 HBD:c.11T>C - p.Leu4Pro - - HBD_02011 - Hb variants Barberio G; Ivaldi G; Maffei M; Mogni M; HbVar A-2391-2010; Protein Amino Hb A2-Sile 1 - - -
+?/? 1 HBD:c.11T>C - p.Leu4Pro - - HBD_02252 - Hb variants Mogni M; Maffei M; Ivaldi G; Barberio G; HbVar A-2391-2010;Mahmud N et al.; Protein Amino Hb A2-Sile 1 - - -
+?/? 1 HBD:c.14C>G - p.Thr5Ser - - HBD_01449 HbVar Hb variants dbSNP;Dutly, F; Frischknecht, H; Troxler, H. ; HbVar A-2391-2010; DNA SEQ Hb A2-Acacias 1 - D006455 -
+?/? 1 HBD:c.14C>T - p.Thr5Ile - - HBD_01419 HbVar delta+ thal dbSNP;SwissVar VAR_018740;Trifillis P et al.; DNA SEQ Codon 4 (ACT->ATT) delta+ 1 - D013789 -
+?/? 1 HBD:c.19G>C - p.Glu7Gln - - HBD_01723 HbVar Hb variants dbSNP;Phylipsen M et al.; Protein Amino Hb A2-Ramallah 1 - D006455 -
+?/? 1 HBD:c.23A>C - p.Glu8Ala - - HBD_01448 HbVar Hb variants dbSNP; DNA SEQ Hb A2-Udine 1 - D006455 -
+?/? 1 HBD:c.24G>C - p.Glu8Asp - - HBD_01681 HbVar Hb variants dbSNP;Coviello D.; Geremia L.; Ivaldi G.; Leone D.; Moruzzi F.; Pascotto D.; Zanolli F.A.; HbVar A-2391-2010; DNA SEQ Hb A2-Pordenone 1 - D006455 -
+?/? 1 HBD:c.25A>G - p.Lys9Glu - - HBD_01430 HbVar Hb variants dbSNP;Harano T; HbVar A-2391-2010; DNA SEQ Hb A2-Toranomon 1 - C104220 -
+?/? 1 HBD:c.32C>T - p.Ala11Val - - HBD_02063 - Hb variants KARAKAYA T. (E-5674-2017) Protein Amino Hb A2-Canakkale 1 - - -
+?/? 1 HBD:c.32C>T - p.Ala11Val - - HBD_02260 - Hb variants KARAKAYA T. (E-5674-2017) Protein Amino Hb A2-Canakkale 1 - - -
+?/? 1 HBD:c.35T>G - p.Val12Gly - - HBD_01384 HbVar Hb variants dbSNP;Drakoulakou O et al.; Protein Amino Hb A2-Pylos 1 - C106313 -
+?/? 1 HBD:c.38A>C - p.Asn13Thr - - HBD_01929 HbVar Hb variants van Zwieten R et al.; Protein Amino Hb A2-Rotterdam 1 - D006455 -
+?/? 1 HBD:c.39T>A - p.Asn13Lys - - HBD_01385 HbVar Hb variants (OMIM 0012);dbSNP;SwissVar VAR_003098;Jong WW de et al.;Ranney HM et al.;Aksoy M et al.;Vella F et al.; Protein Amino Hb A2-NYU 1 - C039470 -
+?/? 1 HBD:c.3G>A - p.Met1Ile - - HBD_01615 HbVar delta0 thal dbSNP;Dutly F; Frischknecht H; Weibel T; HbVar A-2391-2010; Protein Amino HBD c.1 G>A 1 - D013789 -
+?/? 1 HBD:c.41C>A - p.Ala14Asp - - HBD_01443 HbVar Hb variants dbSNP;Walker L et al.;Giambona A et al.; Protein Amino Hb A2-MUMC 1 - C508162 -
+?/? 1 HBD:c.44T>C - p.Leu15Pro - - HBD_01770 HbVar Hb variants FRANCINA A.; JOLY P. (E-4142-2010);HbVar A-2391-2010; Protein Amino Hb A2-Saint-Etienne 1 - D006455 -
+?/? 1 HBD:c.47G>T - p.Trp16Leu - - HBD_02015 - Hb variants Britta Landin; HbVar A-2391-2010; Protein Amino Hb A2-Stockholm 1 - - -
+?/? 1 HBD:c.47G>T - p.Trp16Leu - - HBD_02253 - Hb variants Britta Landin; HbVar A-2391-2010; Protein Amino Hb A2-Stockholm 1 - - -
+?/? 1 HBD:c.49G>C - p.Gly17Arg - - HBD_01386 HbVar Hb variants (OMIM 0001);dbSNP;SwissVar VAR_003099;Codrington JF et al.;Jones RT et al.;Ball EW et al.; Protein Amino Hb A2' or Hb B2 1 - C049102 -
+?/? 1 HBD:c.5T>C - p.Val2Ala - - HBD_01382 HbVar Hb variants (OMIM 0027);dbSNP;SwissVar VAR_003096;Harano T et al.; Protein Amino Hb A2-Niigata 1 - C072970 -
+?/? 1 HBD:c.62T>A - p.Val21Glu - - HBD_01387 HbVar Hb variants (OMIM 0013);dbSNP;SwissVar VAR_003100;Rieder RF et al.; Protein Amino Hb A2-Roosevelt 1 - D006455 -
+?/? 1 HBD:c.68C>A - p.Ala23Glu - - HBD_01388 HbVar Hb variants (OMIM 0007);dbSNP;SwissVar VAR_003101;Lee RC et al.;Ranney HM et al.;Jones RT et al.; Protein Amino Hb A2-Flatbush 1 - D006455 -
+?/? 1 HBD:c.74G>A - p.Gly25Asp - - HBD_01389 HbVar Hb variants (OMIM 0015);dbSNP;SwissVar VAR_003102;Brennan SO et al.; Protein Amino Hb A2-Victoria 1 - C042248 -
+?/? 1 HBD:c.77G>A - p.Gly26Asp - - HBD_01390 HbVar Hb variants (OMIM 0017);dbSNP;SwissVar VAR_003103;Ohba Y et al.; Protein Amino Hb A2-Yokoshima 1 - C048110 -
+?/? 1 HBD:c.7C>A - p.His3Asn - - HBD_01682 HbVar Hb variants dbSNP;Old J (E-5816-2010); Protein Amino Hb A2 codon 2 (CAT→AAT) 1 - D006455 -
+?/? 1 HBD:c.81G>C - p.Glu27Asp - - HBD_01391 HbVar Hb variants (OMIM 0034);dbSNP;SwissVar VAR_003104;Loudianos G et al.; Protein Amino Hb A2-Puglia 1 - D006455 -
+?/? 1 HBD:c.82G>T - p.Ala28Ser - - HBD_01392 HbVar Thalassemia (OMIM 0028);dbSNP;SwissVar VAR_003105;Angioletti MD et al.;Oggiano L et al.;Loudianos G et al.; DNA SEQ Hb A2-Yialousa 1 - D013789 -
+?/? 1 HBD:c.89G>A - p.Gly30Asp - - HBD_01755 HbVar Hb variants So CC et al.; Protein Amino Hb A2 Hong Kong 1 - D006455 -
+?/? 1 HBD:c.8A>G - p.His3Arg - - HBD_01383 HbVar Hb variants (OMIM 0014);dbSNP;SwissVar VAR_003097;Fairbanks VF; HbVar A-2391-2010;Vella F et al.;Jones RT et al.; Protein Amino Hb A2-Sphakiá 1 - D006455 -
+?/? 1 HBD:c.8A>T - p.His3Leu - - HBD_01444 HbVar Hb variants dbSNP;Giambona A et al.; Protein Amino Hb A2-Catania 1 - D006455 -
+?/? 1 HBD:c.90C>T - p.Gly30Val - - HBD_02265 - delta (0 or + unclear) thal Elisabeth Saller; Dutly F; HbVar A-2391-2010; DNA SEQ Codon 29 (B11 ) GGC>GGT, delta (0 or + unclear) 1 - - -
+?/? 1 HBD:c.92+2T>C - - - - HBD_01421 HbVar delta0 thal dbSNP;Moi P et al.; DNA SEQ IVS-I-2 (T->C) delta0 1 - D013789 -
+?/? 1 HBD:c.92G>C - p.Arg31Thr - - HBD_01420 HbVar delta0 thal (OMIM 0029);dbSNP;Pirastu M et al.; Protein Amino Codon 30 (AGG->ACG) delta0 1 - D013789 -
+?/? 1 HBD:c.[67G>A ;68C>A] - p.Ala23Glu - - HBD_01769 HbVar Hb variants COUPRIE N.; FRANCINA A.; JOLY P. (E-4142-2010);HbVar A-2391-2010; Protein Amino Hb A2-Marseille 1 - D006455 -
+?/? 1 NC_000011.9:g.5241853_5254462del - - - - HBD_01828 HbVar (delta-beta)0 thal PISSARD Serge (F-8621-2010);Ghedira ES et al.;Chalaow N et al.;Ghedira ES et al.;Trent RJ et al.; DNA SEQ Thai (deltabeta)0-Thal 1 - D013789 -
+?/? 1-3 NC_000011.9:g.5248185_5255597dup - - - - HBD_01460 HbVar Hb variants (OMIM 0179);Roberts AV et al.;Ohta Y et al.; Protein Amino Hb Miyada 1 - C040869 -
+?/? 1-3 NC_000011.9:g.5254403_5261609del - - - - HBD_01429 HbVar delta0 thal Ribeiro ML et al.;Galanello R et al.;Kulozik AE et al.; DNA SEQ -7.2 kb; the Corfu deletion delta0 1 - D013789 -
+?/? 1-3 NC_000011.9:g.[5248185_5255597del(;)5247861_5255275del] - - - - HBD_01458 HbVar Hb variants (OMIM 0022);Adams JG 3d et al.; Protein Amino Hb Parchman 1 - D006455 -
+?/? 1 NG_000007.3:g.63160_70572dup - - - - HBD_01973 - rare variant So CC et al.; Protein Amino Hb anti-Lepore Hong Kong 1 - - -
+?/? 1 NG_000007.3:g.63160_70572dup - - - - HBD_02271 - Thalassemia So CC et al.; Protein Amino Hb anti-Lepore Hong Kong 1 - - -
+?/? 1 NG_000007.3:g.[63191_70603dup;63291_70703del] - - - - HBD_02006 - Hb variants Jennifer Oliveira (F-7016-2010); DNA SEQ Hb Lepore Rochester-MN 1 - - -
+?/? 1 NG_000007.3:g.[63191_70603dup;63291_70703del] - - - - HBD_02269 - Hb variants Jennifer Herrick (0000-0001-7082-9920); DNA SEQ Hb Lepore Rochester-MN 1 - - -
+?/? 2 HBD:c.110C>A - p.Pro37His - - HBD_01393 HbVar Hb variants (OMIM 0039);dbSNP;Angioletti MD et al.; Protein Amino Hb A2-Metaponto 1 - D006455 -
+?/? 2 HBD:c.110C>G - p.Pro37Arg - - HBD_02038 - Hb variants Mogni M et al; HbVar A-2391-2010; Protein Amino Hb A2-Sanremo 1 - - -
+?/? 2 HBD:c.110C>G - p.Pro37Arg - - HBD_02256 - Hb variants Mogni M et al; HbVar A-2391-2010;Mahmud N et al.; Protein Amino Hb A2-Sanremo 1 - - -
+?/? 2 HBD:c.113G>A - p.Trp38Stop - - HBD_01422 HbVar delta0 thal (OMIM 0035);dbSNP;Gasperini D et al.; DNA SEQ Codon 37 (TGG->TAG) delta0 1 - D013789 -
+?/? 2 HBD:c.120G>C - p.Gln40His - - HBD_01616 HbVar Hb variants dbSNP;Francina A (E-3974-2010); DNA SEQ Hb A2-Lyon 1 - D006455 -
+?/? 2 HBD:c.130G>A - p.Glu44Lys - - HBD_01394 HbVar Hb variants (OMIM 0011);dbSNP;SwissVar VAR_003107;Sharma RS et al.; Protein Amino Hb A2-Melbourne 1 - D006455 -
+?/? 2 HBD:c.131A>G - p.Glu44Gly - - HBD_01395 HbVar Hb variants (OMIM 0037);dbSNP;SwissVar VAR_003106;Papadakis M et al.; Protein Amino Hb A2-Agrinio 1 - C097403 -
+?/? 2 HBD:c.135_145delCTTTGGGGATC - - - - HBD_02264 - delta0 thal Dutly F; Elisabeth Saller (B-1147-2010)HbVar A-2391-2010; Protein Amino Codon45(-CTTTGGGGATC) 1 - - -
+?/? 2 HBD:c.140G>A - p.Gly47Glu - - HBD_01843 HbVar Hb variants MOUMNI Imen; HbVar A-2391-2010;Moumni I et al.; Protein Amino Hb A2-Tunis 1 - D006455 -
+?/? 2 HBD:c.142G>A - p.Asp48Asn - - HBD_01971 - Hb variants Panyasai S et al.; Protein Amino Hb A2-Lampang 1 - - -
+?/? 2 HBD:c.142G>A - p.Asp48Asn - - HBD_02248 - Hb variants Panyasai S et al.; Protein Amino Hb A2-Lampang 1 - - -
+?/? 2 HBD:c.143A>T - p.Asp48Val - - HBD_01396 HbVar Hb variants (OMIM 0025);dbSNP;SwissVar VAR_003108;Leung H et al.; Protein Amino Hb A2-Parkville 1 - C073728 -
+?/? 2 HBD:c.151T>A - p.Ser51Thr - - HBD_01829 HbVar Hb variants - Protein Amino Hb Konz 1 - D006455 -
+?/? 2 HBD:c.155C>G - p.Pro52Arg - - HBD_01397 HbVar Hb variants (OMIM 0002);dbSNP;SwissVar VAR_003109;Alberti R et al.; Protein Amino Hb A2-Adria 1 - D006455 -
+?/? 2 HBD:c.157G>C - p.Asp53His - - HBD_01683 HbVar Hb variants dbSNP;Old J (E-5816-2010); Protein Amino Hb A2 codon 52 (GAT>CAT) 1 - D006455 -
+?/? 2 HBD:c.160G>C - p.Ala54Pro - - HBD_01986 - Hb variants - Protein Amino Hb A2-Edirne 1 - - -
+?/? 2 HBD:c.160G>C - p.Ala54Pro - - HBD_02249 - Hb variants - Protein Amino Hb A2-Edirne 1 - - -
+?/? 2 HBD:c.174C>A - p.Asn58Lys - - HBD_01432 HbVar Hb variants (OMIM 0040);dbSNP;Angioletti MD et al.; DNA SEQ Hb A2-Campania 1 - D006455 -
+?/? 2 HBD:c.176_177insC - - - - HBD_01931 HbVar delta0 thal HARTEVELD C. L.; HbVar A-2391-2010; Protein Amino Codon 58 (+C) delta0 1 - D013789 -
+?/? 2 HBD:c.179A>T - p.Lys60Met - - HBD_01450 HbVar Hb variants dbSNP;Couprie N.; Francina A (E-3974-2010);Joly P (E-4142-2010);HbVar A-2391-2010; DNA SEQ Hb A2-North Africa 1 - D006455 -
+?/? 2 HBD:c.179delA - - - - HBD_01423 HbVar delta0 thal (OMIM 0023);dbSNP;Olds RJ et al.; Protein Amino Codon 59 (-A); AAG(Lys)->-AG delta0 1 - D013789 -
+?/? 2 HBD:c.180G>C - p.Lys60Asn - - HBD_01442 HbVar Hb variants dbSNP;Moumni I et al.; DNA SEQ Hb A2-Pasteur-Tunis 1 - D006455 -
+?/? 2 HBD:c.193G>A - p.Gly65Ser - - HBD_01930 HbVar Hb variants van Zwieten R et al.; Protein Amino Hb A2-Venlo 1 - D006455 -
+?/? 2 HBD:c.198G>T - p.Lys66Asn - - HBD_02062 - Hb variants Zhang J et al.; Protein Amino Hb A2-Yunnan 1 - - -
+?/? 2 HBD:c.198G>T - p.Lys66Asn - - HBD_02259 - Hb variants Zhang J et al.; Protein Amino Hb A2-Yunnan 1 - - -
+?/? 2 HBD:c.208G>C - p.Gly70Arg - - HBD_01398 HbVar Hb variants (OMIM 0009);dbSNP;SwissVar VAR_003110;Ganesan J et al.;Eng LI et al.;Lie-Injo LE et al.; Protein Amino Hb A2-Indonesia 1 - D006455 -
+?/? 2 HBD:c.209G>A - p.Gly70Asp - - HBD_02048 - Hb variants Dutly F; Saller E; HbVar A-2391-2010; Protein Amino Hb A2-Gebenstorf 1 - - -
+?/? 2 HBD:c.209G>A - p.Gly70Asp - - HBD_02257 - Hb variants Elisabeth Saller; Dutly F; HbVar A-2391-2010; Protein Amino Hb A2-Gebenstorf 1 - - -
+?/? 2 HBD:c.212C>G - p.Ala71Gly - - HBD_01445 HbVar Hb variants dbSNP;Giambona A et al.; Protein Amino Hb A2-Ventimiglia 1 - D006455 -
+?/? 2 HBD:c.224G>A - p.Gly75Asp - - HBD_01680 HbVar Hb variants dbSNP;Coviello D.; Ivaldi G. ; Leone D; Moruzzi F.; Pascotto D.; Paventa R.; HbVar A-2391-2010; Protein Amino Hb A2-Asti 1 - D006455 -
+?/? 2 HBD:c.226C>G - p.Leu76Val - - HBD_01399 HbVar Hb variants (OMIM 0033);dbSNP;SwissVar VAR_003111;Molchanova TP et al.; Protein Amino Hb A2-Grovetown 1 - C082239 -
+?/? 2 HBD:c.230C>A - p.Ala77Asp - - HBD_02274 - Hb variants P. JOLY (E-4142-2010) Protein Amino Hb A2-Moyen-Orient 1 - - -
+?/? 2 HBD:c.233A>G - p.His78Arg - - HBD_01972 - Hb variants Nuinoon M et al.; Protein Amino Hb A2-Kiriwong 1 - - -
+?/? 2 HBD:c.233A>G - p.His78Arg - - HBD_02251 - Hb variants Nuinoon M et al.; Protein Amino Hb A2-Kiriwong 1 - - -
+?/? 2 HBD:c.239A>G - p.Asp80Gly - - HBD_01837 HbVar Hb variants COUPRIE, N.; JOLY, P. (E-4142-2010);HbVar A-2391-2010; Protein Amino Hb A2-Turkish 1 - D006455 -
+?/? 2 HBD:c.244C>T - p.Leu82Phe - - HBD_01684 HbVar Hb variants dbSNP;JOLY Philippe (E-4142-2010);Old J (E-5816-2010); Protein Amino Hb A2 Saint-Denis 1 - D006455 -
+?/? 2 HBD:c.247A>T - p.Lys83Stop - - HBD_01722 HbVar delta (0 or + unclear) thal dbSNP;Gallivan (A-9986-2010); Protein Amino Codon 82 (AAG->TAG) delta0 1 - D013789 -
+?/? 2 HBD:c.251G>A - p.Gly84Asp - - HBD_01400 HbVar Hb variants dbSNP;Harano T; HbVar A-2391-2010; Protein Amino Hb A2-Nishishinbashi 1 - D006455 -
+?/? 2 HBD:c.257T>C - p.Phe86Ser - - HBD_01401 HbVar Hb variants dbSNP;Drakoulakou O et al.; Protein Amino Hb A2-Etolia 1 - C106312 -
+?/? 2 HBD:c.262C>A - p.Gln88Lys - - HBD_01446 HbVar Hb variants dbSNP;Giambona A et al.; Protein Amino Hb A2-Montechiaro 1 - D006455 -
+?/? 2 HBD:c.263A>G - p.Gln88Arg - - HBD_02267 - Hb variants Ivaldi G; Mercadanti M.; Caleffi A; HbVar A-2391-2010;Mahmud N et al.; Protein Amino Hb A2 Cremona 1 - - -
+?/? 2 HBD:c.265C>G - p.Leu89Val - - HBD_01433 HbVar Hb variants (OMIM 0041);dbSNP;Angioletti MD et al.; DNA SEQ Hb A2-Lucania 1 - D006455 -
+?/? 2 HBD:c.269G>A - p.Ser90Asn - - HBD_02065 - Hb variants COVIELLO Domenico; MAFFEI Massimo; IVALDI Giovanni; SANTONI Fabiano; RIZZI Leonardo; GUASTINI Adriana; MOGNI Massimo; HbVar A-2391-2010; Protein Amino Hb A2 Pistoia 1 - - -
+?/? 2 HBD:c.269G>A - p.Ser90Asn - - HBD_02261 - Hb variants Domenico Coviello; MAFFEI Massimo; IVALDI Giovanni; SANTONI Fabiano; RIZZI Leonardo; GUASTINI Adriana; MOGNI Massimo; HbVar A-2391-2010;Guastini A et al.; Protein Amino Hb A2 Pistoia 1 - - -
+?/? 2 HBD:c.270_271insT - - - - HBD_01424 HbVar delta0 thal dbSNP;Losekoot M et al.; DNA SEQ Codon 91 (+T) delta0 1 - D013789 -
+?/? 2 HBD:c.271G>A - p.Glu91Lys - - HBD_01836 HbVar Hb variants COUPRIE, N.; JOLY, P. (E-4142-2010);HbVar A-2391-2010; Protein Amino Hb A2-Canebière 1 - D006455 -
+?/? 2 HBD:c.272A>G - p.Glu91Gly - - HBD_01686 HbVar Hb variants dbSNP;Gallivan M (A-9986-2010); Protein Amino Hb A2-India 1 - D006455 -
+?/? 2 HBD:c.272A>T - p.Glu91Val - - HBD_01402 HbVar Hb variants (OMIM 0008);dbSNP;SwissVar VAR_003112;Fujita S et al.; Protein Amino Hb A2-Honai 1 - C048109 -
+?/? 2 HBD:c.275T>C - p.Leu92Pro - - HBD_02029 - Hb variants JOLY Philippe; HbVar A-2391-2010; Protein Amino Hb A2-Courbevoie 1 - - -
+?/? 2 HBD:c.275T>C - p.Leu92Pro - - HBD_02255 - Hb variants Dr. Philippe JOLY (0000-0002-2351-9441) Protein Amino Hb A2-Courbevoie 1 - - -
+?/? 2 HBD:c.280T>G - p.Cys94Gly - - HBD_01403 HbVar Hb variants (OMIM 0036);dbSNP;SwissVar VAR_014277;Galanello R et al.; Protein Amino Hb A2-Sant' Antioco 1 - C093040 -
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Legend: [ HBD full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. HBD DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. HbVar link: HbVar link Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported Ethnic origin: Ethnic origin of patient Disease Mesh ID: Mesh ID Geographic origin: Geographic origin of patient

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