Table 2.
Other coding variants present in normal liver, PNF, and MPNST.
| Variant allele frequency (VAF) | |||||||
|---|---|---|---|---|---|---|---|
| Chr:Pos | Base change | Gene | AA-change | Pathogenicity | Normal liver | PNF | MPNST |
| Chr7:6022480 | C>T | PMS2 | p.V717M | VUS | 28.02 | 33.25 | 26.12 |
| Chr15:91295059 | A>C | BLM | p.H281P | VUS | 48.41 | 47.81 | 48.99 |
| Chr9:22008767 | C>G | CDKN2A | p.Q62H | Pathogenic | 48.73 | 44.26 | 42.22 |
| Chr19:10940910 | C>T | DNM2 | p.A800V | VUS | 49.64 | 44.07 | 46.84 |
| Chr12:12022450 | A>G | ETV6 | p.I186V | VUS | 48.20 | 50 | 49.59 |
| Chr15:99451976 | G>A | IGFIR | p.R437H | Nonpathogenic | 47.84 | 48.81 | 51.28 |
| Chr19:36223217 | C>T | KMT2B | p.P1923S | VUS | 48.98 | 49.23 | 50.68 |
| Chr17:5456827 | C>T | NLRP1 | p.V803I | Nonpathogenic | 48.51 | 44.51 | 78.97 |
| Chr14:103342015 | C>7 | TRAF3 | p.R118W | Nonpathogenic | 47.36 | 46.76 | 48.38 |
| Chr19:10478847 | G>A | TYK2 | p.P117S | VUS | 50.26 | 47.78 | 49.09 |
| Chr6:112382222 | C>T | WISP3 | p.P26L | Nonpathogenic | 45.01 | 45.92 | 45.36 |
| Chr6:112382236 | C>A | WISP3 | p.P31T | Nonpathogenic | 45.06 | 45.74 | 44.74 |
AA-change, change that occurred in the peptide sequence; Chr:Pos, chromosome: position; VAF, variant allele frequency.