Table 2.
All missense variants identified in TBL1XR1 overlapping the WD40 domain of TBLR1 (June 2015; see also Fig. 4)
| Variation | Source (allele count) | Location (GRCh37) | Ref/alt | Predicted amino acid change |
|---|---|---|---|---|
| Population | ExAC (1) | chr3:176768368 | C/T | Gly153Glu |
| Population | dbSNP | chr3:176768338 | A/G | Val163Ala |
| Population | ExAC (1) | chr3:176768288 | C/T | Val180Ile |
| Population | ExAC (1) | chr3:176767892 | T/A | Ser199Cys |
| Population | ExAC (1) | chr3:176767879 | G/C | Thr203Ser |
| Diagnostic | DDD | chr3:176767848 | A/T | His213Gln |
| Population | ExAC (1) | chr3:176765173 | C/T | Ser260Asn |
| Population | dbSNP | chr3:176765158 | T/C | His265Arg |
| Diagnostic | O'Roak et al. (25) | chr3:176765107 | A/G | Leu282Pro |
| Population | ExAC (1) | chr3:176756189 | T/C | Asn320Ser |
| Population | dbSNP | chr3:176756189 | T/G | Asn320Thr |
| Population | EVA | chr3:176756187 | T/C | Thr321Ala |
| Diagnostic | DDD | chr3:176756165 | T/C | Asp328Gly |
| Population | ExAC (1) | chr3:176756102 | G/T | Thr349Lys |
| Population | ExAC (2) | chr3:176755930 | T/C | Thr360Ala |
| Population | dnSNP | chr3:176755930 | T/A | Thr360Ser |
| Population | ExAC (1) | chr3:176755923 | T/G | Asn362Thr |
| Diagnostic | DDD | chr3:176755900 | C/A | Asp370Tyr |
| Population | ExAC (1) | chr3:176752065 | T/C | Asn391Asp |
| Population | ExAC (2) | chr3:176752022 | C/T | Gly405Glu |
| Population | ExAC (5) | chr3:176752016 | T/C | Asn407Ser |
| Population | dbSNP | chr3:176752017 | T/C | Asn407Asp |
| Population | ExAC (1) | chr3:176752014 | T/C | Asn408Asp |
| Population | ExAC (1) | chr3:176750916 | A/C | Phe420Cys |
| Population | ExAC (1) | chr3:176750908 | T/C | Thr423Ala |
| Population | ExAC (1) | chr3:176750905 | C/G | Val424Leu |
| Population | ExAC (1) | chr3:176750884 | G/C | Arg431Gly |
| Population | dbSNP | chr3:176750883 | C/T | Arg431Gln |
| Population | dbSNP | chr3:176750860 | T/C | Thr439Ala |
| Population | dbSNP | chr3:176750855 | T/G | Lys440Asn |
| Diagnostic | DDD | chr3:176750853 | T/C | His441Arg |
| Diagnostic | DDD | chr3:176750844 | G/C | Pro444Arg |
| Population | ExAC (1) | chr3:176750817 | T/C | Asp453Gly |
| Population | ExAC (2) | chr3:176750811 | C/T | Arg455Lys |
| Population | ExAC (27) | chr3:176744255 | G/A | Ala475Val |
| Population | ExAC (1) | chr3:176744247 | G/C | His478Asp |
| Population | ExAC (1) | chr3:176744189 | T/C | Lys497Arg |
| Population | dbSNP | chr3:176743294 | G/A | Arg513Trp |
| Population | ExAC (1) | chr3:176743291 | T/G | Lys514Gln |