TABLE 1.
Designation | Nucleotide change | Protein change | CADD scorea | REVEL scoreb | MetaLR scoreb | Minor allele frequencyc | |||
---|---|---|---|---|---|---|---|---|---|
Global | Caucasian | African | East asian | ||||||
rs60113013 | c.76_84del | p.Glu26_Thr28del | 14.9 | NA | NA | 0.0293 | 0.0187 | 0.0032 | 0.1021 |
rs142693902 | c.332G>A | p.Arg111Gln | 27.8 | 0.632 | 0.436 | 0.0014 | 0.0007 | 0.0001 | 0.0000 |
rs35199625 | c.601G>A | p.Val201Met | 22.8 | 0.149 | 0.01 | 0.0198 | 0.0124 | 0.0022 | 0.0577 |
rs78825186 | c.917G>A | p.Arg306His | 9.4 | 0.111 | 0.141 | 0.0146 | 0.0226 | 0.0036 | 0.0001 |
rs12422149 | c.935G>A | p.Arg312Gln | 7.7 | 0.026 | 0 | 0.1759 | 0.1036 | 0.0910 | 0.3261 |
rs2306168 | c.1457C>T | p.Ser486Phe | 12.0 | 0.022 | 0 | 0.0826 | 0.0244 | 0.3365 | 0.2250 |
Combined Annotation Dependent Depletion (CADD) score was obtained from https://cadd.gs.washington.edu.
Rare Exome Variant Ensemble Learner (REVEL) and MetaLR score was obtained from https://m.ensembl.org.
Allele frequencies sourced from gnomAD database, https://gnomad.broadinstitute.org.
NA, not applicable.