Table 1. Targeted enrichment, included genomic regions.
| Gene | Chr | Gene Cordinates | Exons | Cumulative amplicon size, basepairs |
|---|---|---|---|---|
| SDHA | 5 | 218356–256815 | 15 | 6475 |
| SDHB | 1 | 17345217–17380665 | 8 | 2625 |
| SDHC | 1 | 161284047–161332984 | 6 | 1925 |
| SDHD | 11 | 111957497–111990353 | 4 | 1400 |
| SDHAF2 | 11 | 61197514–61215001 | 5 | 1750 |
| VHL | 3 | 10182692–10193904 | 3 | 1400 |
| EPAS1 | 2 | 46520806–46613836 | 16 | 7700 |
| RET | 10 | 43572475–43625799 | 20 | 2800 |
| NF1 | 17 | 29421945–29709134 | 58 | 27300 |
| TMEM127 | 2 | 46520806–46613836 | 4 | 2100 |
| MAX | 14 | 65472892–65569413 | 5 | 1575 |
| H-RAS | 11 | 532243–535550 | 6 | 1050 |
Selected genomic regions for targeted enrichment utilized in the TruSeq Custom Amplicon assay. Sequences annotated as protein coding were selected in SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, EPAS1, RET, NF1, TMEM127, MAX and H-RAS. In RET exons 8,10–11,13–16 were selected. The design was extended with 10 base pairs at exon-intron junctions.