Table 2.
| Transcriptome NGS result |
GPL3718/ GPL3720 SNP array result |
|||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| VarFreq: ratio B/A |
C666 | NPC biopsies (15) |
Control blood (5) |
|||||||||
| Gene | Function | dbSNP135 | NP460 VarFreq | HK1 VarFreq | C666 VarFreq | AA | AB | BB | AA | AB | BB | |
| CCDC99 | Exonic | rs3797713 | 1 | 0.6034 | 1 | AA | 7 | 6 | 0 | 2 | 3 | 0 |
| CEP55 | Exonic | rs2293277 | 0.4123 | 1 | 0.4487 | AB | 7 | 7 | 1 | 2 | 3 | 0 |
| PIGC | Exonic | rs1063412 | 1 | 0.5946 | 1 | AB | 0 | 13 | 1 | 0 | 2 | 1 |
| GNL3 | Exonic | rs2289247 | 0.4375 | 1 | 1 | AB | 11 | 4 | 0 | 2 | 2 | 0 |
| PPA2 | Exonic | rs13787 | 0.4058 | 1 | 0.3667 | AB | 6 | 4 | 1 | 0 | 1 | 3 |
| PDLIM5 | UTR3 | rs13141591 | 1 | 1 | ND | BB | 0 | 0 | 17 | 0 | 0 | 5 |
| SQSTM1 | UTR3 | rs1065154 | ND | ND | 0.6486 | AB | 3 | 7 | 3 | 3 | 0 | 1 |
| DUSP7 | UTR3 | rs3821841 | 0.4731 | 1 | ND | AB | 4 | 7 | 0 | 5 | 0 | 0 |
| DLX4 | UTR3 | rs1058564 | ND | ND | 0.6538 | AB | 10 | 4 | 0 | 3 | 2 | 0 |
| RAB31 | UTR3 | rs557706 | 1 | 0.4528 | ND | ND | 2 | 8 | 1 | 1 | 0 | 4 |
| CERS2 | UTR3 | rs267739 | 1 | 1 | 1 | AB | 13 | 1 | 0 | 5 | 0 | 0 |
| CANT1 | UTR5 | rs3744171 | ND | ND | 0.5 | AB | 6 | 5 | 1 | 4 | 1 | 0 |
ND: SNP not detected.