Table 5. Synonymous mutations found in the hemangioblastoma tumor by NGS on Ion Proton.
cDNA = coding DNA; AA = amino acid; NGS = next-generation DNA sequencing
| Gene name | Genotype | Reference | Observed allele | Allele frequency (%) | cDNA changed | AA changed | PhyloP |
| ALK | T/T | A | T | 100 | c.3753T>A | p. (Ala1251Ala) | 0.5 |
| MLH1 | T/T | G | T | 96.83 | c.1104G>T | p. (Ser368Ser) | -1.73 |
| FGFR3 | A/A | G | A | 100 | c.1953G>A | p. (Thr651Thr) | 0.06 |
| PDGFRA | G/G | A | G | 100 | c.1701A>G | p. (Pro566Pro) | -3.59 |
| PDGFRA | C/T | C | T | 51 | c.2472C>T | p. (Val824Val) | 0.64 |
| KIT | A/G | A | G | 61 | c.1638A>G | p. (Lys546Lys) | 1.33 |
| KDR | T/C | T | C | 56.52 | c.1494A>G | p. (Ile497Ile) | 2.89 |
| APC | A/A | G | A | 95.5 | c.4479G>A | p. (Thr1493Thr) | 0.09 |
| ABL1 | A/T | A | T | 58.97 | c.864A>T | p. (Ala288Ala) | -0.23 |
| RET | T/T | G | T | 100 | c.2307G>T | p. (Leu769Leu) | 1.23 |