Table 2. Summary of JAK2, DNMT3 and TET2 gene mutations with sequence reads.
Gene | HGVS | Locus | Type | Mutation Frequency | Total Reads | Mutant Reads |
---|---|---|---|---|---|---|
DNMT3A | NM_022552.4(DNMT3A):c.2645G>A p.R882H | Exon 23 | SNV | 44.99131 | 3453 | 1554 |
JAK2 | NM_004972.3(JAK2):c.1849G>T p.V617F | Exon 14 | SNV | 58.78312 | 7132 | 4193 |
TET2 | NM_001127208.2(TET2):c.2746C>T p.Q916* | Exon 3 | SNV | 12.47476 | 4456 | 559 |
TET2 | NM_001127208.2(TET2):c.4111G>T p.V1371F | Exon 9 | SNV | 13.51902 | 1471 | 199 |
TET2 | NM_001127208.2(TET2):c.3854_3855insTA p.S1286fs*78 | Exon 7 | Indel | 18.27192 | 3935 | 721 |
TET2 | NM_001127208.2(TET2):c.4989_4993dupCCAAG p.D1665fs*32 | Exon 11 | Indel | 3.924171 | 5275 | 207 |