Unique variants in the HBA1 gene

Information The variants shown are described using the NM_000558.3 transcript reference sequence.

348 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. 1 2 c.153C>R Hb Frankfurt r.(?) p.His51Gln - VUS g.? - c.153C>R - HBA1_000063 - data from Globin Gene Server (HbVar-73), Wajcman H (D-2111-2010), PubMed: Prehu C - rs33966883 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.171G>Y Hb Belliard r.(?) p.(Lys57Asn) - VUS g.227003G>Y g.177004G>Y 171G>Y - HBA1_000071 - data from Globin Gene Server (HbVar-81), OMIM:var0161, PubMed: Wajcman H - rs281860657 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.183G>Y Hb Zambia r.(?) p.(Lys61Asn) - VUS g.227015G>Y g.177016G>Y 183G>Y - HBA1_000078 - data from Globin Gene Server (HbVar-88), OMIM:var0160, ExPASy_002780, PubMed: Barclay GP - rs281860659 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.186G>Y Hb J-Buda r.(?) p.(Lys62Asn) - VUS g.227018G>Y g.177019G>Y 186G>Y - HBA1_000080 - data from Globin Gene Server (HbVar-90), OMIM:var0008, ExPASy_002782, PubMed: Hollan SR - rs281864775 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.207C>R Hb G-Philadelphia r.(?) p.(Asn69Lys) - VUS g.227039C>R g.177040C>R 207C>R - HBA1_000087 - 1 more item - rs111033601 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.258C>R Hb AYLESBURY r.(?) p.(Asp86Glu) - VUS g.227090C>R g.177091C>R 258C>R - HBA1_001734 - data from Globin Gene Server (HbVar-2813), Henthorn J; HbVar A-2391-2010; - rs281864578 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.36G>Y Hb Albany-Suma r.(?) p.(Lys12Asn) - VUS g.226751G>Y g.176752G>Y 36G>Y - HBA1_000018 - data from Globin Gene Server (HbVar-14), OMIM:var0002, PubMed: Webber BB - rs281860646 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 3 c.384G>Y Hb Jackson r.(?) p.(Lys128Asn) - VUS g.227365G>Y g.177366G>Y 384G>Y - HBA1_000164 - 1 more item - rs63749865 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.43T>M Hb Evanston r.(?) p.(Trp15Arg) - VUS g.226758T>M g.176759T>M 43T>M - HBA1_000020 - 1 more item - rs33964317 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.51G>Y Hb Beijing r.(?) p.(Lys17Asn) - VUS g.226766G>Y g.176767G>Y 51G>Y - HBA1_000023 - data from Globin Gene Server (HbVar-20), OMIM:var0010, ExPASy_002734, PubMed: Liang CC - rs281860619 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.96G>Y Hb Prato r.spl? p.(Arg32Ser) - VUS g.226928G>Y g.176929G>Y 96G>Y - HBA1_000047 - 1 more item - rs281860652 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 31 1, 2, 3 c.? - -(BRIT), - -(CAL), - -(CANT), - -(CL), - -(FIL), - -(GEO), - -(MA), - -(MC), - -(MED-I), - -(MED-II), 18 more items r.(?), r.? -, p.?, p.Ala20Asp, p.Gln55His, p.Glu117_Phe118insHisLeuProAlaGlu, p.Leu87_His88insSerAspLeu, 7 more items - VUS g.189301_232501del, g.197600_229800del, g.199800_233300del, g.200001_230001del, g.200821_232671del, 15 more items g.139302_182502del, g.147601_179801del, g.149801_183301del, g.150002_180002del, g.150822_182672del, 14 more items g.189300_232500del, g.200000_230000del, g.200820_232670del, g.201400_238300del, g.215400_234700del, 13 more items - HBA1_000016, HBA1_000027, HBA1_000125, HBA1_000168, HBA1_000188, HBA1_000189, HBA1_000190, HBA1_000194, 23 more items 2.7 kb deletion involving the alpha1 gene alpha-Thal-2, 3.7 kb (type I) deletion alpha-2, 18 more items Hbvar-?, PubMed: van Zwieten R, data from Globin Gene Server (HbVar-1074), PubMed: Zhao JB, 29 more items - rs281864489, rs33914470 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+/. 12 _1_3_ c.-11316_*7290del - r.? p.? - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - PubMed: He 2017, Journal: He 2017 - - Germline - 1/951 individuals, 2/951 individuals, 3/951 individuals, 4/951 individuals, 75/951 individuals, 1 more item - - - Baosheng Zhu
?/. 1 - c.-3828C>G - r.(?) p.(=) - VUS g.222888C>G g.172889C>G HBA2(NM_000517.6):c.-24C>G - HBA2_001842 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-3825C>T - r.(?) p.(=) - likely benign g.222891C>T g.172892C>T HBA2(NM_000517.6):c.-21C>T - HBA2_004003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-3798C>T - r.(?) p.(=) - likely benign g.222918C>T g.172919C>T HBA2(NM_000517.6):c.7C>T (p.L3=) - HBA2_004004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.-3736del - r.(?) p.(=) - pathogenic g.222980del g.172981del HBA2(NM_000517.6):c.69delC (p.E24Sfs*26) - HBA2_004005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.-3708_-3704del - r.(?) p.(=) - pathogenic g.223008_223012del g.173009_173013del HBA2(NM_000517.6):c.95+2_95+6delTGAGG - HBA2_004006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-3615C>T - r.(?) p.(=) - likely benign g.223101C>T g.173102C>T HBA2(NM_000517.6):c.96-23C>T - HBA2_004007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.-3594A>G - r.(?) p.(=) - pathogenic g.223122A>G g.173123A>G HBA2(NM_000517.4):c.96-2A>G (p.?), HBA2(NM_000517.6):c.96-2A>G - HBA2_000496 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.-3500T>G - r.(?) p.(=) - VUS g.223216T>G g.173217T>G HBA2(NM_000517.6):c.188T>G (p.V63G) - HBA2_004009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 25 _1_2 c.-3416_271del - r.? p.? - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - PubMed: He 2017, Journal: He 2017 - - Germline - 1/951 individuals, 129/951 individuals, 14/951 individuals, 2/951 individuals, 3/951 individuals, 4 more items - - - Baosheng Zhu
+/. 1 _1_2 c.-3416_271dup - r.? p.? - pathogenic g.223383_227186dup g.173384_177187dup ααα - HBA1_000000 - PubMed: He 2017, Journal: He 2017 - - Germline - 1/951 individuals - - - Baosheng Zhu
-/. 1 - c.-3274G>C - r.(?) p.(=) - benign g.223442G>C g.173443G>C HBA2(NM_000517.6):c.301-29G>C - HBA2_004010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.-3269G>C - r.(?) p.(=) - benign g.223447G>C g.173448G>C HBA2(NM_000517.6):c.301-24G>C - HBA2_004011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.-3119T>C - r.(?) p.(=) - pathogenic g.223597T>C g.173598T>C HBA2(NM_000517.6):c.427T>C (p.*143Qext*31) - HBA2_000463 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.-3025A>G - r.(?) p.(=) - pathogenic g.223691A>G - HBA2(NM_000517.4):c.*92A>G - HBA2_000499 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 3 _1_3_ c.-37-u25059_*110+d4774del - r.(?) p.? - VUS g.201620_232294del g.151621_182295del - - HBA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 1 1 c.-16T>C - r.(?) p.(=) - VUS g.226700T>C g.176701T>C alpha1 +22 T->C - HBA1_000221 - data from Globin Gene Server (HbVar-1178), - rs34702814 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.1A>G - r.(?) p.0? - VUS g.226716A>G g.176717A>G Initiation codon (A->G); ATG->GTG of the alpha1 gene alpha-Thal-2 - HBA1_000205 - data from Globin Gene Server (HbVar-1063), PubMed: Moi P - rs34220980 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.2T>A - r.(?) p.0? - VUS g.226717T>A g.176718T>A Alpha1_Initiation codon_ATG>AAG - HBA1_001965 - Hbvar-?, PubMed: Waye JS - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.4G>T Hb Baldock r.(?) p.(Val2Leu) - VUS g.226719G>T g.176720G>T - - HBA1_001573 - 1 more item - rs281864485 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.5T>A Hb Thionville r.(?) p.(Val2Glu) - VUS g.226720T>A g.176721T>A - - HBA1_000183 - data from Globin Gene Server (HbVar-711), OMIM:var0168, ExPASy_002719 - rs281864802 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.5T>G Hb Antananarivo r.(?) p.(Val2Gly) - VUS g.226720T>G g.176721T>G - - HBA1_000005 - data from Globin Gene Server (HbVar-1), OMIM:var0038, PubMed: Kister J - rs281864802 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.7_9dup Hb Pittsburgh r.(?) p.(Leu3dup) - VUS g.226722_226724dup g.176723_176725dup 9_10insCTG - HBA1_001625 - data from Globin Gene Server (HbVar-2743), Gallivan (A-9986-2010) - rs281864548 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.8T>G Hb Chongqing r.(?) p.(Leu3Arg) - VUS g.226723T>G g.176724T>G - - HBA1_000006 - data from Globin Gene Server (HbVar-2), OMIM:var0021, ExPASy_002720, PubMed: Zeng YT - rs36030576 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.10T>C Hb Central Middlesex r.(?) p.(Ser4Pro) - VUS g.226725T>C g.176726T>C - - HBA1_001567 - data from Globin Gene Server (HbVar-2635), Green B; Henthorn J; Mantio D; HbVar A-2391-2010; - rs281864479 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.11C>T Hb Douala r.(?) p.(Ser4Phe) - VUS g.226726C>T g.176727C>T - - HBA1_000212 - data from Globin Gene Server (HbVar-1112), OMIM:var0205, PubMed: Prehu C - rs35850071 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.16G>C Hb Karachi r.(?) p.(Ala6Pro) - VUS g.226731G>C g.176732G>C - - HBA1_000008 - data from Globin Gene Server (HbVar-4), OMIM:var0080, ExPASy_002722, PubMed: Ahmad A - rs34751764 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.17C>A Hb J-Toronto r.(?) p.(Ala6Asp) - VUS g.226732C>A g.176733C>A - - HBA1_000007 - 1 more item - rs34090856 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.19G>A Hb Dunn r.(?) p.(Asp7Asn) - VUS g.226734G>A g.176735G>A - - HBA1_000010 - 1 more item - rs33961916 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.19G>C Hb Galliera I r.(?) p.(Asp7His) - VUS g.226734G>C g.176735G>C - - HBA1_000242 - 1 more item - rs33961916 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.19G>T Hb Woodville r.(?) p.(Asp7Tyr) - VUS g.226734G>T g.176735G>T - - HBA1_000012 - data from Globin Gene Server (HbVar-8), OMIM:var0158, ExPASy_002727, PubMed: Como PF - rs33961916 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.19_21del Hb Boyle Heights r.(?) p.(Asp7del) - VUS g.226734_226736del g.176735_176737del 19_21delGAC - HBA1_000184 - data from Globin Gene Server (HbVar-715), OMIM:var0018, PubMed: Zhao W, PubMed: Johnson CS - rs281865565 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.20A>C Hb Sawara r.(?) p.(Asp7Ala) - VUS g.226735A>C g.176736A>C - - HBA1_000009 - 1 more item - rs33986902 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.20A>G Hb Swan River r.(?) p.(Asp7Gly) - VUS g.226735A>G g.176736A>G - - HBA1_000013 - 1 more item - rs33986902 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.20A>T Hb Ferndown r.(?) p.(Asp7Val) - VUS g.226735A>T g.176736A>T - - HBA1_000011 - data from Globin Gene Server (HbVar-7), OMIM:var0032, ExPASy_002726, PubMed: Lee-Potter JP - rs33986902 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.22A>G Hb Kurosaki r.(?) p.(Lys8Glu) - VUS g.226737A>G g.176738A>G - - HBA1_000015 - 1 more item - rs281864807 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.24G>C Hb Tatras r.(?) p.(Lys8Asn) - VUS g.226739G>C g.176740G>C - - HBA1_000014 - data from Globin Gene Server (HbVar-10), OMIM:var0187, PubMed: Wajcman H - rs34410516 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.28A>G Hb Farnborough r.(?) p.(Asn10Asp) - VUS g.226743A>G g.176744A>G - - HBA1_001890 - data from Globin Gene Server (HbVar-3016), - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.29A>C Hb Broomfield r.(?) p.(Asn10Thr) - VUS g.226744A>C g.176745A>C - - HBA1_000231 - data from Globin Gene Server (HbVar-1239), Wild B; HbVar A-2391-2010; - rs281860650 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.29A>G Hb Anadour r.(?) p.(Asn10Ser) - VUS g.226744A>G g.176745A>G - - HBA1_000247 - data from Globin Gene Server (HbVar-2594), Giordano P (A-9724-2010) - rs281860650 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.30C>G Hb Delfzicht r.(?) p.(Asn10Lys) - VUS g.226745C>G g.176746C>G - - HBA1_000215 - data from Globin Gene Server (HbVar-1122), OMIM:var0208, PubMed: Harteveld CL - rs28928885 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.34A>C Hb J-Wenchang-Wuming r.(?) p.(Lys12Gln) - VUS g.226749A>C g.176750A>C - - HBA1_000017 - 1 more item - rs33938574 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.38C>A Hb J-Paris-I r.(?) p.(Ala13Asp) - VUS g.226753C>A g.176754C>A - - HBA1_000019 - 1 more item - rs35615982 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.40G>A Hb Olivet r.(?) p.(Ala14Thr) - VUS g.226755G>A g.176756G>A - - HBA1_001702 - data from Globin Gene Server (HbVar-2796), Pissard S.; Prehu C; Riou J.; HbVar A-2391-2010; - rs35331909 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.40G>C Hb Ravenscourt Park r.(?) p.(Ala14Pro) - VUS g.226755G>C g.176756G>C - - HBA1_000232 - data from Globin Gene Server (HbVar-1240), Wild B; HbVar A-2391-2010; - rs35331909 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.44G>A - r.(?) p.(Trp15*) - VUS g.226759G>A g.176760G>A Codon 14 G>A - HBA1_000240 - data from Globin Gene Server (HbVar-2515), PubMed: Harteveld CL - rs63750090 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.44G>T Hb Basel r.(?) p.(Trp15Leu) - VUS g.226759G>T g.176760G>T - - HBA1_001699 - data from Globin Gene Server (HbVar-2783), PubMed: Hergersberg - rs63750090 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.46G>C Hb Ottawa r.(?) p.(Gly16Arg) - VUS g.226761G>C g.176762G>C - - HBA1_000022 - 1 more item - rs35816645 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.46G>T Hb St. Rose r.(?) p.(Gly16Cys) - VUS g.226761G>T g.176762G>T - - HBA1_001688 - data from Globin Gene Server (HbVar-2761), Hoyer JD (F-7016-2010); - rs35816645 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.47G>A Hb I-Interlaken r.(?) p.(Gly16Asp) - VUS g.226762G>A g.176763G>A - - HBA1_000021 - 1 more item - rs281865560 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.50A>T Hb Harbin r.(?) p.(Lys17Met) - VUS g.226765A>T g.176766A>T - - HBA1_000024 - data from Globin Gene Server (HbVar-21), OMIM:var0050, ExPASy_002733, PubMed: Zeng YT - rs35210126 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.55G>A Hb King Ecgbert r.(?) p.(Gly19Ser) - VUS g.226770G>A g.176771G>A - - HBA1_001895 - 1 more item - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.55G>C Hb Handsworth r.(?) p.(Gly19Arg) - VUS g.226770G>C g.176771G>C - - HBA1_000025 - 1 more item - rs34504387 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.55G>T Hb Lima r.(?) p.(Gly19Cys) - VUS g.226770G>T g.176771G>T - - HBA1_001626 - data from Globin Gene Server (HbVar-2744), Gallivan (A-9986-2010) - rs34504387 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.56G>A Hb Al-Ain Abu Dhabi r.(?) p.(Gly19Asp) - VUS g.226771G>A g.176772G>A - - HBA1_000026 - data from Globin Gene Server (HbVar-23), OMIM:var0175, ExPASy_002735, PubMed: Abbes S - rs35993097 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.59C>A Hb J-Tashikuergan r.(?) p.(Ala20Glu) - VUS g.226774C>A g.176775C>A - - HBA1_000028 - data from Globin Gene Server (HbVar-25), OMIM:var0076, ExPASy_002738, PubMed: Li HJ - rs35628685 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.61C>T Hb Necker Enfants-Malades r.(?) p.(His21Tyr) - VUS g.226776C>T g.176777C>T - - HBA1_000029 - data from Globin Gene Server (HbVar-26), OMIM:var0104, PubMed: Wajcman H - rs34708054 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.62A>C Hb Anderlecht r.(?) p.(His21Pro) - VUS g.226777A>C g.176778A>C - - HBA1_000197 - data from Globin Gene Server (HbVar-910), PubMed: Cotton F. - rs281864815 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.62A>G Hb Hobart r.(?) p.(His21Arg) - VUS g.226777A>G g.176778A>G - - HBA1_000030 - data from Globin Gene Server (HbVar-28), OMIM:var0053, ExPASy_002740, PubMed: Fleming PJ - rs33943087 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.62_63insT - r.(?) p.(Ala22Argfs*36) - VUS g.226777_226778insT g.176778_176779insT Hb alpha1 codon20(+T - HBA1_001703 - data from Globin Gene Server (HbVar-2800), Arnaud L; Cartron JP; Prehu C; HbVar A-2391-2010; - rs281864571 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.63C>A Hb Brugg r.(?) p.(His21Gln) - VUS g.226778C>A g.176779C>A - - HBA1_001604 - data from Globin Gene Server (HbVar-2673), Speer 0; Zurbriggen K; HbVar A-2391-2010, PubMed: Rizzi M - rs281864502 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.64G>C Hb Fontainebleau r.(?) p.(Ala22Pro) - VUS g.226779G>C g.176780G>C - - HBA1_000032 - data from Globin Gene Server (HbVar-30), OMIM:var0033, ExPASy_002742, PubMed: Wajcman H - rs34324664 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.65C>A Hb J-Nyanza r.(?) p.(Ala22Asp) - VUS g.226780C>A g.176781C>A - - HBA1_000031 - data from Globin Gene Server (HbVar-29), OMIM:var0068, ExPASy_002741, PubMed: Kendall AG - rs11548605 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.68G>A Hb J-Medellin r.(?) p.(Gly23Asp) - VUS g.226783G>A g.176784G>A - - HBA1_000033 - data from Globin Gene Server (HbVar-31), OMIM:var0067, ExPASy_002743 - rs34608326 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.70G>A Hb Chad r.(?) p.(Glu24Lys) - VUS g.226785G>A g.176786G>A - - HBA1_000035 - 1 more item - rs33939620 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.70G>C Hb Memphis r.(?) p.(Glu24Gln) - VUS g.226785G>C g.176786G>C - - HBA1_000034 - data from Globin Gene Server (HbVar-32), OMIM:var0096, PubMed: Cooper MR, PubMed: Kraus LM - rs33939620 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.70G>T - r.(?) p.(Glu24*) - VUS g.226785G>T g.176786G>T alpha1 cd23 GAG->TAG - HBA1_000220 - data from Globin Gene Server (HbVar-1176), OMIM:var0063, PubMed: Siala H - rs33939620 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.71A>G Hb Reims r.(?) p.(Glu24Gly) - VUS g.226786A>G g.176787A>G - - HBA1_000037 - data from Globin Gene Server (HbVar-35), OMIM:var0124, ExPASy_002744, PubMed: Bardakdjian-Michau J - rs33939421 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.71A>T Hb G-Audhali r.(?) p.(Glu24Val) - VUS g.226786A>T g.176787A>T - - HBA1_000036 - 1 more item - rs33939421 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.72G>T Hb Lisbon r.(?) p.(Glu24Asp) - VUS g.226787G>T g.176788G>T - - HBA1_000038 - data from Globin Gene Server (HbVar-36), OMIM:var0188, PubMed: Wajcman H - rs281860684 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.73T>C Hb Luxembourg r.(?) p.(Tyr25His) - VUS g.226788T>C g.176789T>C - - HBA1_000039 - 1 more item - rs34743106 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.74A>G Hb Ramona r.(?) p.(Tyr25Cys) - VUS g.226789A>G g.176790A>G - - HBA1_000040 - data from Globin Gene Server (HbVar-38), OMIM:var0186, PubMed: Pobedimskaya DD - rs28928880 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.80C>A Hb Shenyang r.(?) p.(Ala27Glu) - VUS g.226795C>A g.176796C>A - - HBA1_000041 - data from Globin Gene Server (HbVar-39), OMIM:var0132, ExPASy_002747, PubMed: Yi CH, PubMed: Zeng YT - rs35477770 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.82G>A Hb Shuangfeng r.(?) p.(Glu28Lys) - VUS g.226797G>A g.176798G>A - - HBA1_000044 - 1 more item - rs34776279 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.83A>C Hb Hackney r.(?) p.(Glu28Ala) - VUS g.226798A>C g.176799A>C - - HBA1_000233 - data from Globin Gene Server (HbVar-1241), PubMed: Wild BJ - rs281864823 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.83A>G Hb Fort Worth r.(?) p.(Glu28Gly) - VUS g.226798A>G g.176799A>G - - HBA1_000042 - 1 more item - rs33964507 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.83A>T Hb Spanish Town r.(?) p.(Glu28Val) - VUS g.226798A>T g.176799A>T - - HBA1_000043 - 1 more item - rs33964507 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.84G>T Hb Hekinan II r.(?) p.(Glu28Asp) - VUS g.226799G>T g.176800G>T - - HBA1_001886 - data from Globin Gene Server (HbVar-3011), - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.85G>A Hb Bramall Lane r.(?) p.(Ala29Thr) - VUS g.226800G>A g.176801G>A - - HBA1_001893 - 1 more item - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.86C>T Hb Nedlands r.(?) p.(Ala29Val) - VUS g.226801C>T g.176802C>T - - HBA1_001600 - data from Globin Gene Server (HbVar-2667), PubMed: Phylipsen M - rs281864500 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.88C>G Hb Kosovo r.(?) p.(Leu30Val) - VUS g.226803C>G g.176804C>G - - HBA1_000252 - data from Globin Gene Server (HbVar-2611), Gallivan (A-9986-2010) - rs63749791 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.91G>A Hb O-Padova r.(?) p.(Glu31Lys) - VUS g.226806G>A g.176807G>A - - HBA1_000045 - 1 more item - rs33993166 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.91G>C Hb G-Honolulu r.(?) p.(Glu31Gln) - VUS g.226806G>C g.176807G>C - - HBA1_000046 - data from Globin Gene Server (HbVar-47), PubMed: Paleari,PubMed: Blackwell,PubMed: Liu,PubMed: Chang - rs33993166 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.92A>C Hb Bom Jesus da Lapa r.(?) p.(Glu31Ala) - VUS g.226807A>C g.176808A>C - - HBA1_000228 - data from Globin Gene Server (HbVar-1216), PubMed: Jorge - rs33946121 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.92A>T Hb Itapira r.(?) p.(Glu31Val) - VUS g.226807A>T g.176808A>T - - HBA1_000227 - data from Globin Gene Server (HbVar-1215), PubMed: Jorge - rs33946121 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.94_95del Alpha-3.7KbAllele:c.94_95delAG r.spl? p.(Arg32Aspfs*25) - VUS g.226809_226810del g.176810_176811del Alpha-3.7KbAllele:c.94_95delAG - HBA1_001789 - data from Globin Gene Server (HbVar-2871), PubMed: Zhao P - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.95G>C Hb Mao r.spl? p.(Arg32Thr) - VUS g.226810G>C g.176811G>C - - HBA1_001739 - data from Globin Gene Server (HbVar-2817), Curcio C (D-3898-2011); - rs281864580 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+/. 4 1i c.95+1G>A - r.spl? p.? - pathogenic g.226811G>A g.176812G>A HBA1:c.95+1G>A - HBA1_003000 - PubMed: He 2017, Journal: He 2017 - - Germline - 1/951 individuals, 2/951 individuals, 3/951 individuals - - - Baosheng Zhu
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