All variants in the HBA1 gene

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

425 entries on 5 pages. Showing entries 1 - 100.
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Effect     

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     
+?/. 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 - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 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 - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 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 - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 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 - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.207C>R Hb G-Philadelphia r.(?) p.(Asn69Lys) - VUS g.227039C>R g.177040C>R 207C>R - HBA1_000087 - data from Globin Gene Server (HbVar-100), OMIM:var0268, ExPASy_002787, PubMed: Molchanova TP, PubMed: Milner PF - rs111033601 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 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 - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 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 - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 3 c.384G>Y Hb Jackson r.(?) p.(Lys128Asn) - VUS g.227365G>Y g.177366G>Y 384G>Y - HBA1_000164 - data from Globin Gene Server (HbVar-194), OMIM:var0079, ExPASy_002839, PubMed: Lam H, PubMed: Moo-Penn WF - rs63749865 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.43T>M Hb Evanston r.(?) p.(Trp15Arg) - VUS g.226758T>M g.176759T>M 43T>M - HBA1_000020 - data from Globin Gene Server (HbVar-16), OMIM:var0031, ExPASy_002731, Giordano PC (A-9724-2010), PubMed: Harteveld CL - rs33964317 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 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 - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.96G>Y Hb Prato r.spl? p.(Arg32Ser) - VUS g.226928G>Y g.176929G>Y 96G>Y - HBA1_000047 - data from Globin Gene Server (HbVar-48), OMIM:var0055, ExPASy_002752, PubMed: Shih MC, PubMed: De Marco EV - rs281860652 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.? Hb Anantharaj r.(?) p.Lys12Glu - VUS g.? - NM_000558.3:p.Lys12Glu - HBA1_000016 - data from Globin Gene Server (HbVar-12), OMIM:var0003, ExPASy_002729, PubMed: Svasti J, PubMed: Pootrakul S - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.? Hb J-Kurosh r.(?) p.Ala20Asp - VUS g.? - NM_000558.3:p.Ala20Asp - HBA1_000027 - data from Globin Gene Server (HbVar-24), OMIM:var0066, ExPASy_002737, PubMed: Rahbar S - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.? Hb J-Broussais r.(?) p.Lys91Asn - VUS g.? - HBA2:c.273G>T or HBA1:c.273G>C - HBA1_000125 - data from Globin Gene Server (HbVar-142), OMIM:var0014, PubMed: Fleming, PubMed: Braconnier, PubMed: Cassius de Linval - rs33914470 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 3 c.? Hb Val de Marne r.(?) p.Ser134Arg - VUS g.? - NM_000558.3:p.Ser134Arg - HBA1_000168 - data from Globin Gene Server (HbVar-201), OMIM:var0062, ExPASy_002844, PubMed: Ma, PubMed: Owen, PubMed: Wajcman - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 3 c.? Hb Zaïre r.(?) p.Glu117_Phe118insHisLeuProAlaGlu - VUS g.? - NM_000558.3:p.Glu117_Phe118insHisLeuProAlaGlu - HBA1_000188 - data from Globin Gene Server (HbVar-733), OMIM:var0171, PubMed: Wajcman H - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 3 c.? Hb Phnom Penh r.(?) p.Phe118_Thr119insIle - VUS g.? - NM_000558.3:p.Phe118_Thr119insI - HBA1_000189 - data from Globin Gene Server (HbVar-734), PubMed: Singha,PubMed: Wajcman,PubMed: Leung - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 3 c.? Hb Grady r.(?) p.Thr119_Pro120insGluPheThr - VUS g.? - NM_000558.3:p.Thr119_Pro120insGluPheThr - HBA1_000190 - data from Globin Gene Server (HbVar-735), OMIM:var0045, PubMed: Cleek, PubMed: Scott, PubMed: Garel, PubMed: Huisman, PubMed: Huisman - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.? Hb Neuilly-sur-Marne r.(?) p.Leu87_His88insSerAspLeu - VUS g.? - NM_000558.3:p.Leu87_His88insSerAspLeu - HBA1_000194 - data from Globin Gene Server (HbVar-902), - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - r.(?) - - VUS g.225800_228500del g.175801_178501del - - HBA1_000208 2.7 kb deletion involving the alpha1 gene alpha-Thal-2 data from Globin Gene Server (HbVar-1074), PubMed: Zhao JB - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - r.(?) - - VUS g.226600_230100del g.176601_180101del - - HBA1_000209 3.5 kb deletion involving the alpha1 gene alpha-Thal-2 data from Globin Gene Server (HbVar-1075), PubMed: Kulozik AE - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - r.? p.? - VUS g.223383_227186del g.173384_177187del g.223300_227103del - HBA1_001492 3.7 kb (type I) deletion alpha-2 data from Globin Gene Server (HbVar-1076), PubMed: Kazazian,PubMed: Baysal,PubMed: Embury - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - -(GEO) r.? p.? - VUS g.222000_231400del g.172001_181401del - - HBA1_001495 8.5 kb deletion including the alpha2- and alpha1- globin genes alpha-Thal-1 data from Globin Gene Server (HbVar-1083), PubMed: Fei YJ - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - -(SPAN) r.? p.? - VUS g.220000_230550del g.170001_180551del - - HBA1_001497 deletion of 10.5-12.0 kb including both alpha-globin genes alpha-Thal-1 data from Globin Gene Server (HbVar-1084), PubMed: Villegas A, PubMed: Villegas A - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - -(CANT) r.? p.? - VUS g.218500_231600del g.168501_181601del - - HBA1_001499 deletion of 14.0-15.4 kb removing both alpha-globin genes alpha-Thal-1 data from Globin Gene Server (HbVar-1085), PubMed: Villegas A - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - -(SEA) r.? p.? - VUS g.215401_234701del g.165402_184702del g.215400_234700del - HBA1_001501 deletion of ~20 kb including both alpha-globin genes alpha-Thal-1 data from Globin Gene Server (HbVar-1086), PubMed: Waye,PubMed: Daenen,PubMed: Bowden,PubMed: Pressley - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - -(MED-I) r.? p.? - VUS g.213800_230200del g.163801_180201del - - HBA1_001503 deletion of ~17.5 kb including both alpha-globin genes alpha-Thal-1 data from Globin Gene Server (HbVar-1087), PubMed: Baysal,PubMed: Sonati,PubMed: Bowden,PubMed: Pressley - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? -(alpha)20.5 r.? p.? - VUS g.204300_227000del g.154301_177001del - - HBA1_001506 this 20.5 kb deletion involves alpha2 and the 5' end of alpha1; alpha-Thal-1 data from Globin Gene Server (HbVar-1088), PubMed: Nicholls RD, PubMed: Bowden DK - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - -(MA) r.? p.? - VUS g.208100_229000del g.158101_179001del - - HBA1_001510 deletion of ~22 kb involving both alpha genes alpha-Thal-1 data from Globin Gene Server (HbVar-1089), PubMed: Villegas A, PubMed: Gonzalez-Redondo JM - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - -(SA) r.? p.? - VUS g.208600_232200del g.158601_182201del - - HBA1_001513 deletion of 22.8-23.7 kb involving both alpha-globin genes; alpha-Thal-1 data from Globin Gene Server (HbVar-1090), PubMed: Fei,PubMed: Vandenplas,PubMed: Mathew - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - -(BRIT) r.? p.? - VUS g.205500_234800del g.155501_184801del - - HBA1_001516 deletion of ~26 kb involving both alpha genes alpha-Thal-1 data from Globin Gene Server (HbVar-1091), PubMed: Steinberg MH - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - -(CL) r.? p.? - VUS g.202450_313800del g.152451_263801del - - HBA1_001519 deletion of at least 40 kb involving the two alpha and zeta genes alpha-Thal-1 data from Globin Gene Server (HbVar-1093), - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - -(FIL) r.? p.? - VUS g.200821_232671del g.150822_182672del g.200820_232670del - HBA1_001523 deletion of 30-34 kb involving the alpha1, alpha2, and zeta genes alpha-Thal-1 data from Globin Gene Server (HbVar-1094), PubMed: Fischel-Ghodsian N - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - -(THAI) r.? p.? - VUS g.199800_233300del g.149801_183301del - - HBA1_001527 deletion of 34-38 kb involving the alpha1, alpha2, and zeta genes alpha-Thal-1 data from Globin Gene Server (HbVar-1095), - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - -(CAL) r.? p.? - VUS g.197600_229800del g.147601_179801del - - HBA1_001531 deletion of 32 kb involving both the alpha and zeta genes alpha-Thal-1 data from Globin Gene Server (HbVar-1096), PubMed: Villegas A, PubMed: Fortina P - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - -(MED-II) r.? p.? - VUS g.200001_230001del g.150002_180002del g.200000_230000del - HBA1_001535 deletion of 26.5 kb involving the two alpha and zeta genes alpha-Thal-1 data from Globin Gene Server (HbVar-1097), PubMed: Kutlar F - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - -(RT) r.? p.? - VUS g.201402_238302del g.151403_188303del g.201400_238300del - HBA1_001539 deletion of 36.5-40 kb removing the entire alpha gene locus alpha-Thal-1 data from Globin Gene Server (HbVar-1100), PubMed: Sabath DE - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - -(MC) r.? p.? - VUS g.189301_232501del g.139302_182502del g.189300_232500del - HBA1_001543 deletion of at least 46 kb involving both alpha genes and zeta gene alpha-Thal-1 data from Globin Gene Server (HbVar-1102), PubMed: Vickers MA - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 3 c.? Hb Kenton r.(?) p.Thr135Ser - VUS g.? - NM_000558.3:c.[404C>G or 403A>T ] - HBA1_001575 - data from Globin Gene Server (HbVar-2650), Fraser L; Green B; Henthorn JS; Mantio D; HbVar A-2391-2010; - rs281864489 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.? Hb Princes Risborough r.(?) p.Gln55His - VUS g.? - NM_000558.3:p.Gln55His - HBA1_001733 - data from Globin Gene Server (HbVar-2812), Henthorn J; HbVar A-2391-2010; - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? -(alpha)5.2 r.? p.? - VUS g.? - NG_000006.1:g.32867_38062del - HBA1_001933 deletion of 5196 nt alpha-Thal-1 data from Globin Gene Server (HbVar-1082), PubMed: Fortina P, PubMed: Pressley L - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.? Hb Nile r.(?) p.Pro78Ser - VUS g.? - NM_000558.3:c.[232C>T (or HBA2) - HBA1_001994 - Hbvar-?, PubMed: van Zwieten R - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+/. _1_3_ c.-11316_*7290del - r.? p.? - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - PubMed: He 2017, Journal: He 2017 - - Germline - 4/951 individuals - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
+/. _1_3_ c.-11316_*7290del - r.? p.? - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - PubMed: He 2017, Journal: He 2017 - - Germline - 2/951 individuals - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
+/. _1_3_ c.-11316_*7290del - r.? p.? - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - PubMed: He 2017, Journal: He 2017 - - Germline - 8/951 individuals - 0 - Baosheng Zhu
+/. _1_3_ c.-11316_*7290del - r.? p.? - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - PubMed: He 2017, Journal: He 2017 - - Germline - 75/951 individuals - 0 - Baosheng Zhu
+/. _1_3_ c.-11316_*7290del - r.? p.? - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - PubMed: He 2017, Journal: He 2017 - - Germline - 3/951 individuals - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
+/. - 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 - - - 0 - VKGL-NL_Rotterdam
+/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
+/. - 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 - - - 0 - VKGL-NL_Rotterdam
+/. - 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
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
+/. _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 - 2/951 individuals - 0 - Baosheng Zhu
+/. _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 - 32/951 individuals - 0 - Baosheng Zhu
+/. _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 - 2/951 individuals - 0 - Baosheng Zhu
+/. _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 - 4/951 individuals - 0 - Baosheng Zhu
+/. _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 - 6/951 individuals - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
+/. _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 - 2/951 individuals - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
+/. _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 - 129/951 individuals - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
+/. _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 - 2/951 individuals - 0 - Baosheng Zhu
+/. _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 - 3/951 individuals - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
+/. _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 - 14/951 individuals - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
+/. _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 - 2/951 individuals - 0 - Baosheng Zhu
+/. _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 - 8/951 individuals - 0 - Baosheng Zhu
+/. _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 - 0 - Baosheng Zhu
-/. - 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 - - - 0 - VKGL-NL_Rotterdam
-/. - 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 - - - 0 - VKGL-NL_Rotterdam
+/. - 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 - - - 0 - VKGL-NL_Rotterdam
+/. - 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
?/. _1_3_ c.-37-u25059_*110+d4774del - r.(?) p.? - VUS g.201620_232294del g.151621_182295del - - HBA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. _1_3_ c.-37-u25059_*110+d4774del - r.(?) p.? - VUS g.201620_232294del g.151621_182295del - - HBA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. _1_3_ c.-37-u25059_*110+d4774del - r.(?) p.? - VUS g.201620_232294del g.151621_182295del - - HBA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 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 - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 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 - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 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 - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.4G>T Hb Baldock r.(?) p.(Val2Leu) - VUS g.226719G>T g.176720G>T - - HBA1_001573 - data from Globin Gene Server (HbVar-2641), Fraser L; Green B; Henthorn JS; Moradkhani K (E-4221-2010);HbVar A-2391-2010; - rs281864485 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
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