WES failed to call six SNPs (marked as ‘x’) in four different genes
| Gene | Exon | SNP | TGPS | WES | ||||
|---|---|---|---|---|---|---|---|---|
| Case 1 | Case 2 | Case 3 | Case 1 | Case 2 | Case 3 | |||
| ADA | 1 | rs11555565 | het | – | – | x | – | – |
| 2 | rs394105 | hom | hom | hom | hom | hom | hom | |
| 4 | rs11555566 | – | – | het | – | – | het | |
| 5 | rs61737144 | – | – | het | – | – | het | |
| 6 | rs244076 | – | – | hom | – | – | hom | |
| CYBA | 1 | rs8053867 | hom | hom | hom | hom | x | hom |
| 4 | rs4673 | – | hom | – | – | hom | – | |
| 6 | rs1049254 | hom | hom | hom | x | x | hom | |
| HPS1 | 3 | rs11539873 | het | – | – | het | – | – |
| 5 | rs1801287 | het | het | – | het | het | – | |
| 13 | rs2296434 | het | – | – | x | – | – | |
| 16 | rs2296436 | het | – | – | het | – | – | |
| NCF1 | 3 | rs10614 | hom | het | het | x | x | x |
| 3 | rs13447 | – | het | het | – | x | x | |
For each case (1–3) TGPS and corresponding WES SNP's (hom—homozygous, het—heterozygous) are shown.
TGPS, targeted gene panel sequencing; WES, whole exome sequencing.