A novel α Globin Gene Cluster Duplication, αααα³⁸⁰ Heterozygous β⁰-Thal Variant, Leading to a Blood Transfusion-Dependent Phenotype

Abstract

Table . S-1 The HGVS name corresponding to the abbreviated gene/allele. NameHGVS Name --THAI NC_000016.9:g.199800_233300del --SEA NC_000016.9:g.215400_234700del -α 3.7 NC_000016.9:g.223300_227103del -α 4.2 NC_000016.9:g.219817_(223755_224074)del HKαα NC_000016.9:g.220220_225884del ααα anti3.7 NC_000016.9:g.223300_227103dup ααα anti4.2 NC_000016.9:g.219817_224074dup α CS α HBA2: c.427T>C α QS α HBA2: c.377T>C α Westmead α HBA2: c.369C>G β CD41/42 HBB: c.126_129delCTTT β IVS-II-654 HBB: c.316-197C>T β CD17 HBB: c.52A>T β -28 HBB: c.-78A>G β -29 HBB: c.-79A>G β -30 HBB: c.-80T>C β -32 HBB: c.-82C>A β CD26 HBB: c.79G>A β CD71/72 HBB: c.216-217insA β CD43 HBB: c.130G>T β IVS-I-1 HBB: c.92+1G>T β CD27/28 HBB: c.84_85insC β Int CD HBB: c.2T>G β CD31HBB: c.94delC β HBB: c.-11_-8delAAAC β CD14/15 HBB: c.45_46insG β HBB: c.92+5G>C The main reference data in this table are HbVar database (http://globin.cse.psu.edu/) and reference [26].