Molecular spectrum of β-thalassemia identified in Seoul National University Hospital (South Korea).
| HGVS nomenclature | Amino acid change | N of alleles | % |
|---|---|---|---|
| c.-138C>A | 1 | 0.6 | |
| c.-81A>G | 2 | 1.2 | |
| c.79G>A | p.Glu27Lys | 18 | 11.0 |
| c.92G>A | p.Arg31Lys | 1 | 0.6 |
| c.92+1G>A | 2 | 1.2 | |
| c.92+1G>T | 2 | 1.2 | |
| c.92+2T>C | 1 | 0.6 | |
| c.92+5G>C | 3 | 1.8 | |
| c.93-21G>A | 3 | 1.8 | |
| c.93-1G>C | 2 | 1.2 | |
| c.315+1G>A | 12 | 7.4 | |
| c.316-197C>T | 1 | 0.6 | |
| c.316-2A>G | 1 | 0.6 | |
| c.1A>G | Start loss | 2 | 1.2 |
| c.2T>G | start loss | 25 | 15.3 |
| c.48G>A | p.Trp16* | 6 | 3.7 |
| c.52A>T | p.Lys18* | 18 | 11.0 |
| c.114G>A | p.Trp38* | 4 | 2.5 |
| c.118C>T | p.Gln40* | 1 | 0.6 |
| c.364G>T | p.Glu122* | 13 | 8.0 |
| c.394C>T | p.Gln132* | 1 | 0.6 |
| c.25_26del | p.Lys9Valfs*14 | 1 | 0.6 |
| c.27dup | p.Ser10Valfs*14 | 8 | 4.9 |
| c.126_129del | p.Phe42Leufs*19 | 15 | 9.2 |
| c.201del | p.Val68Cysfs*22 | 1 | 0.6 |
| c.217dup | p.Ser72Lysfs*2 | 2 | 1.2 |
| c.253_254del | p.Thr85Leufs*6 | 1 | 0.6 |
| c.270_271del | p.Ser90Argfs*5 | 2 | 1.2 |
| c.287dup | p.Leu97Alafs*6 | 1 | 0.6 |
| c.378_379del | p.Val127Alafs*13 | 1 | 0.6 |
| c.182T>A | p.Val61Glu | 1 | 0.6 |
| c.383A>G | p.Gln128Arg | 2 | 1.2 |
| 7 | 4.3 | ||
| Beta-globin gene cluster deletion | 1 | 0.6 | |
| 1 | 0.6 | ||
| Total | 163 |
Blood Res 2021;56:S39~S43 https://doi.org/10.5045/br.2021.2020332
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