NM_000518.5
| c.-151C>T (-101C>T) | -- | Silent β+ variant (See Genotype-Phenotype Correlations.) |
c.-142C>T (-92C>T) | -- |
c.-140C>T (-90C>T) | -- | Mild β+ variant (See Genotype-Phenotype Correlations.) |
c.-138C>A (-88C>A) | -- |
c.-138C>T (-88C>T) | -- |
|
c.-137C>A (-87C>A) | -- | Mild β+ variant (See Genotype-Phenotype Correlations.) |
c.-137C>G (-87C>G) | -- |
c.-137C>T (-87C>T) | -- |
c.-136C>G (-86C>G) | -- |
|
c.-136C>T (-86C>T) | -- | Mild β+ variant (See Genotype-Phenotype Correlations.) |
c.-81A>G (-31A>G) | -- |
c.-80T>A (-30T>A) | -- |
c.-79A>G (-29A>G) | -- |
|
c.-78A>G (-28A>G) | -- |
|
c.-50A>C (+1A>C) | | Silent β+ variant (See Genotype-Phenotype Correlations.) |
c.-41del>T (+10delT) | -- | Mild β+ variant (See Genotype-Phenotype Correlations.) |
c.-29G>A (+22G>A) | -- |
c.-18C>G (+33C>G) | -- |
NM_000518.5
NP_000509.1
| c.20delA | p.Glu7GlyfsTer13 (Glu6GlyfsTer12) | Mild β0 variant (See Genotype-Phenotype Correlations.) |
c.25_26delAA | p.Lys9ValfsTer14 (Lys8ValfsTer13) |
|
c.27dupG | p.Ser10ValfsTer14 (Ser9ValfsTer13) | One of 6 common pathogenic variants in Middle Eastern population 4 |
c.52A>T | p.Lys18Ter (Lys17Ter) |
|
c.59A>G | p.Asn20Ser (Asn19Ser) |
|
NM_000518.5
| c.75T>A (IVS1-18T>A) | See footnote 5. |
|
NM_000518.5
NP_000509.1
| c.82G>T | p.Ala28Ser (Ala27Ser) |
|
NM_000518.5
| c.93-21G>A (IVS1-21G>A) | -- | One of 6 common pathogenic variants in Mediterranean population 4 |
c.92+1G>A (IVS1+1G>A) | -- |
c.92+5G>C (IVS1+5G>C) | -- |
|
c.92+6T>C (IVS1+6T>C) | -- |
|
NM_000518.5
NP_000509.1
| c.118C>T | p.Gln40Ter (Gln39Ter) | One of 6 common pathogenic variants in Mediterranean & Middle Eastern populations 4 |
c.126_129delCTTT | p.Phe42LeufsTer19 |
|
c.135delC | p.Phe46LeufsTer16 (Phe45LeufsTer15) | One of 6 common pathogenic variants in Middle Eastern population 4 |
NM_000518.5
| c.316-197C>T (IVS2+654C>T) | -- |
|
c.316-106C>G (IVS2+745C>G) | -- | One of 6 common pathogenic variants in Mediterranean population 4 |
c.316-7C>G (IVS2-7C>G) | | Mild β+ variant (See Genotype-Phenotype Correlations.) |
c.316-2A>G (IVS2-2A>G) | -- | One of 6 common pathogenic variants in African & African American populations 3 |
c.316-2A>C (IVS2-2A>C) | -- |
c.315+1G>A (IVS2+1G>A) | -- | One of 6 common pathogenic variants in Middle Eastern population 4 |
c.*6C>G | -- | Silent β+ variant (See Genotype-Phenotype Correlations.) |
c.*110T>C | -- | Mild β+ variant (See Genotype-Phenotype Correlations.) |
c.*111A>G | -- |
c.*113A>G | -- | Silent β+ variant (See Genotype-Phenotype Correlations.) |