Table 3.
Resequencing of GPR161 in 384 SB infants and 190 control infants
| DNA change1 | AA change2 | rs# | SIFT | PolyPhen | Count in NTDs | Count in controls | ExAC3 MAF | gnomAD4 MAF |
|---|---|---|---|---|---|---|---|---|
| c.19G > A | p.Val7Ile | rs60383097 | Tolerated | Benign | 1/384 | ND5 | 1.72E-03 | 0.001674 |
| c.604 T > G | p.Trp202Gly | NA 6 | Damaging | Probably damaging | 1/384 | ND | Not found | Not found |
| c.1283C > T | p.Leu428Phe | NA | Tolerated | Probably damaging | 1/384 | ND | Not found | Not found |
| c.986 C > T | p.Ala329Val | NA | Tolerated | Benign | 1/384 | ND | Not found | Not found |
| c.844 T > C | p.Ser282Pro | rs576055321 | Tolerated | Benign | 1/384 | ND | 2.47E-05 | 3.25E-05 |
| c.56 T > A | p.Leu19Gln | rs200635937 | Tolerated | Probably damaging | 1/384 | 1/190 | 3.35E-03 | 2.70E-03 |
| c.126C > T | p.Gly42Gly | rs34499666 | NA | NA | ND | 1/190 | 2.09E-03 | 2.22E-03 |
| c.292G > A | p.Val98Met | rs147802262 | Tolerated | Benign | ND | 1/190 | 8.24E-05 | 4.87E-05 |
| c.720C > G | p.Arg240Arg | rs201970960 | NA | NA | ND | 1/190 | 4.95E-05 | 5.78E-05 |
| c.742G > A | p.Val248Ile | rs143799014 | Tolerated | Benign | ND | 1/190 | 4.78E-04 | 4.70E-04 |
| c.1237A > T | p.Thr413Ser | rs773362589 | Possibly damaging | Deleterious | ND | 1/190 | 8.55E-06 | 1.23E-05 |
| c.1473G > A | p.Glu491Glu | rs112752784 | NA | NA | ND | 1/190 | 1.64E-03 | 1.79E-03 |
1GPR161 nucleotide accession number: NM_001267609.
2GPR161 protein accession number: NP_001254538.
3Exome Aggregation Consortium data from http://exac.broadinstitute.org/.
4gnomAD data from http://gnomad.broadinstitute.org/.
5ND: not detected.
6NA: not available.
7The variants which were not identified in ExAC database were highlighted in bold font.