Table 6. Intronic mutations found in the hemangioblastoma tumor by NGS on Ion Proton.
cDNA = coding DNA; NGS = next-generation DNA sequencing
| Gene name | Genotype | Reference | Observed allele | Allele frequency (%) | cDNA changed | Transcript | PhyloP |
| CSDE1 | AT/AT | A | AT | 94.96 | c.*2010T>AT | NM_001242891.1 | 9.12 |
| ERBB4 | T/C | T | C | 76.47 | c.421+58A>G | NM_005235.2 | -3.34 |
| PIK3CA | A/G | A | G | 72.22 | c.352+40A>G | NM_006218.3 | 0.78 |
| PIK3CA | A/G | A | G | 66.67 | c.1252-62A>G | NM_006218.3 | 2.11 |
| KDR | C/C | G | C | 100 | c.1413-20C>G | NM_002253.2 | 0.35 |
| FBXL18 | T/T | C | T | 97.58 | c.1781+161G>A | NM_024963.5 | -1.46 |
| FBXL18 | C/C | CA | C | 100 | c.1781+130TG>G | NM_024963.5 | -2.13, -1.76 |
| EGFR | G/A | G | A | 14.5 | c.2283+5G>A | NM_005228.3 | 9.63 |
| SND1 | A/A | G | A | 100 | c.1780-63G>A | NM_014390.3 | -1.41 |
| SND1 | C/G | C | G | 36.73 | c.1780-55C>G | NM_014390.3 | -0.24 |
| SND1 | G/A | G | A | 51.02 | c.1780-50G>A | NM_014390.3 | 0.23 |
| SMO | A/A | G | A | 96.3 | c.1264+7G>A | NM_005631.4 | 2.06 |
| CDKN2B, CDKN2B-AS1 | A/A | G | A | 91.16 | c.157-18C>T | NR_047543.1, NM_004936.3 | 0.73 |
| PTEN | G/T | G | T | 81.25 | c.79+15G>T | NM_000314.6 | 0.45 |
| PTPN11 | C/C | T | C | 100 | c.1448-12T>C | NM_002834.3 | 0 |
| RB1 | A/G | A | G | 38.46 | c.1961-20A>G | NM_000321.2 | -0.2 |
| AKT1 | G/A | G | A | 61 | c.175+18C>T | NM_001014431.1 | -0.87 |
| TP53 | A/A | C | A | 100 | c.782+1G>T | NM_000546.5 | 2.22 |
| ERBB2 | A/T | A | T | 38.33 | c.2649+49A>T | NM_004448.3 | 0 |