Table 3 Novel and rare SLCO1B1 variants in Saudi population
Variant | Variant type | Minor allele frequency, SA (%) | ||
|---|---|---|---|---|
NM_006446.5:exon13:c.1706 C > A:p.Ser569Ter (novel) | stop gain | 0.004 | ||
NM_006446.5:exon11:c.1423G > C:p.Gly475Arg (novel) | missense | 0.025 | ||
NM_006446.5:exon11:c.1463G > T:p.Gly488Val (novel) | missense | 0.130 | ||
NM_006446.5:c.116T > A:p.Ile39Asn (novel) | missense | 0.008 | ||
NM_006446.5:c.84 + 1G > A | splice donor | 0.004 | ||
NM_006446.5:c.226 + 1G > A | splice donor | 0.004 | ||
NM_006446.5:c.1135 + 1G > A | splice donor | 0.021 | ||
NM_006446.5:c.1865 + 1G > A | splice donor | 0.172 | ||
NM_006446.5:c.152 C > T:p.Ser51Phe | missense | 1.825 | ||
NM_006446.5:c.170G > A:p.Arg57Gln | missense | 0.008 | ||
NM_006446.5:c.703G > A:p.Val235Met | missense | 0.013 | ||
NM_006446.5:c.1457T > C:p.Leu486Pro | missense | 0.004 | ||
NM_006446.5:c.1508 A > G:p.Asn503Ser | missense | 0.004 | ||
NM_006446.5:c.1651G > A:p.Gly551Arg | missense | 0.004 | ||
NM_006446.5:c.1784T > C:p.Ile595Thr | missense | 0.004 | ||
NM_006446.5:c.1837T > C:p.Cys613Arg | missense | 0.008 | ||
NM_006446.5:c.1841G > T:p.Arg614Met | missense | 0.017 | ||