Table 1.
Candidate variants identified by RNAseq analysis
| Case | Gene | Refseq | cDNA | Protein | vaf |
|---|---|---|---|---|---|
| E166 | JAK2 | NM_004972 | c.G1849T | p.V617F | 1.00 |
| E166 | SOCS1 | NM_003745 | c.G630C | p.Q210H | 0.48 |
| E11072 | RPS19 | NM_001022 | c.C164T | p.T55M | 0.48 |
| E11072 | SOCS1 | NM_003745 | c.G630C | p.Q210H | 0.86 |
| E11075 | PRF1 | NM_001083116 | c.A755G | p.N252S | 0.39 |
| E11076 | SF3B1 | NM_012433 | c.G1998T | p.K666N | 0.32 |
| E11076 | PRF1 | NM_001083116 | c.A755G | p.N252S | 0.67 |
| E11076 | STAT5B | NM_012448 | c.A1924C | p.N642H | 0.43 |
| E11493 | STAT5B | NM_012448 | c.A1924C | p.N642H | 0.47 |
| E11500 | JAK3 | NM_000215 | c.G2164A | p.V722I | 0.56 |