Gene | c.DNA | Aa change | Conse-quence | dbSNP | ClinVar assertion/COSMIC ID | Sample | VAF (%) | Sanger |
---|---|---|---|---|---|---|---|---|
CALR | c.1092_1143del | p.Leu367Thrfs*45 | Fs del | NA | Pathogenic/COSM1738055 | 09, Overt-PMF | 10.6 | ✓ |
CALR | c.1154_1155insTTGTC | p.Lys385Asnfs*46 | Fs ins | rs765476509 | COSM1738056 | 02, ET | 15.9 | ✓ |
CALR | c.1153_1154insTATGT | p.Lys385Ilefs*46 | Fs ins | NA | COSM5985669 | 01, ET | 35.2 | ✓ |
CALR | c.1154A > C | p.Lys385Thr | nSNV | rs1024435400 | NA | 01, ET | 35.5 | ✓ |
JAK2 | c.1849G > T | p.Val617Phe | nSNV | rs77375493 | Pathogenic/COSM12600 | 07, Pre-PMF | 12.1 | ⨉ |
10, Overt-PMF | 12.2 | ⨉ | ||||||
06, PV | 19.2 | ✓ | ||||||
08, Pre-PMF | 53.7 | ✓ | ||||||
05, PV | 66.5 | ✓ | ||||||
04, PV | 72.9 | ✓ | ||||||
03, ET | 88.0 | ✓ | ||||||
ABL1 | c. 1049A > G | p.Asn350Ser | nSNV | rs144448357 | NA | 07, Pre-PMF | 48.8 | ✓ |
ASXL1 | c.1927_1928insGGGGGGGGTG GCCCGGGTGGAGGTGGCGG CGGGGCCACCGATGAGGGG GGGGGCAGAGGCAGCAGCA | p.Gly646Trpfs*10a | stopgain | rs750318549 | NA | 04, PV | 31.3 | ✓ |
ASXL1 | c.1772dupA | p.Tyr591* | stopgain | rs762036456 | COSM4169775, COSM4169776 | 10, Overt-PMF | 40.8 | ✓ |
ASXL1 | c.2190del | p.Leu731Tyrfs*12a | Fs del | NA | NA | 09, Overt-PMF | 38.5 | ✓ |
ASXL1 | c.4299A > G | p.Gln1433Glna | sSNV | NA | NA | 03, ET | 49.2 | ✓ |
DNMT3A | c.1155G > A | p.Pro385Proc | sSNV | rs368009374 | VUS/likely benign | 03, ET | 51.6 | NA |
RUNX1 | c.924G > T | p.Gln308Hisc | nSNV | rs80314254 | Benign | 08, Pre-PMF | 49.6 | ✓ |
SF3B1 | c.2098A > G | p.Lys700Glu | nSNV | rs559063155 | Likely pathogenic/ COSM84677 | 08, Pre-PMF | 45.6 | ✓ |
TET2 | c.911C > T | p.Ala304Val | nSNV | NA | COSM5610834, COSM5610835 | 10, Overt-PMF | 50.1 | ✓ |
TET2 | c.2604T > G | p.Phe868Leu | nSNV | rs147836249 | COSM87107 | 02, ET | 48.7 | ✓ |
TET2 | c.3583A > G | p.Ile1195Val | nSNV | rs568009712 | NA | 01, ET | 49.6 | ✓ |
TET2 | c.3734A > G | p.Tyr1245Cysa | nSNV | NA | NA | 08, Pre-PMF | 44.9 | ✓ |
TET2 | c.3937del | p.Asp1314Metfs*48 | Fs del | NA | COSM4383928 | 08, Pre-PMF | 46.3 | ✓ |
TET2 | c.4893T > A | p.Tyr1631*b | stopgain | NA | COSM97191 | 02, ET | 1.4 | NA |
TET2 | c.4538A > G | p.Glu1513Gly | nSNV | rs553669299 | NA | 02, ET | 51.6 | ✓ |
U2AF1 | c.470A > C | p.Gln157Pro | nSNV | rs371246226 | Likely pathogenic/ | 06, PV | 9.8 | ⨉ |
rs371246226 | COSM211534, COSM1318797 | 10, Overt-PMF | 42.5 | ✓ |