Table 2.
The minor allele frequency of the variants.
| Position (Hg19) | rs ID | Amino acid change | Alleles | NSCLP-Philippine | Control-Philippine | 1000 Genome (CHB) | 1000 Genome (JPT) | Polyphen2/SIFT |
|---|---|---|---|---|---|---|---|---|
| 42866332 | T/C | 0.59% | – | – | – | |||
| 42863266 | rs79087668 | A124T | C/T | 1.79% | – | 10.80% | 5.60% | Benign/Tolerated |
| 42863262 | rs34837068 | V125A | A/G | 11.90% | – | 9.30% | 5.60% | Benign/Tolerated |
| 42859961 | rs12230583 | A/G | 10.24% | – | 23.70% | 24.20% | ||
| 42858525 | I437I | A/G | 0.41% | 0.61% | – | – | ||
| 42858698 | L380F* | G/A | 0.08% | 0.00% | – | – | Benign/Deleterious | |
| 42858137 | rs58707767 | T/G | 1.18% | – | 4.10% | 2.80% | ||
| 42854208 | rs3747563 | F633F | A/G | 12.07% | – | 30.40% | 27.00% | |
| 42854205 | rs3747562 | S634S | A/G | 32.18% | – | 45.40% | 36.50% | |
| 42853871 | rs3827522 | P746S | G/A | 0.49% | 0.46% | 10.30% | 5.60% | Benign/Tolerated |
| 42854081 | R676W* | G/A | 0.08% | 0.00% | – | – | Benign/Deleterious | |
| 42853997 | Y704D* | A/C | 0.08% | 0.31% | – | – | Benign/Tolerated | |
| 42853541 | C/T | 0.61% | – | – | – | |||
| 42853520 | rs1043652 | G/A | 10.37% | – | 30.40% | 27.00% |
*
The missense mutation was absent in 1000 Genome and NHLBI ESP.