Gene | Accession no. | Chra | Exon | Nucleotide change | Amino acid change | Mutation type | VAF in GCT | VAF in AML |
---|---|---|---|---|---|---|---|---|
ASF1A | NM_014034 | 6 | 3 | c.T231A | p.D77E | nonsynonymous SNVb | 0.324 | 0.036 |
DLG2 | NM_001142699 | 11 | 4 | c.C140T | p.T47I | nonsynonymous SNV | 0.468 | 0.215 |
EDRF1 | NM_001202438 | 10 | 22 | c.C3172T | p.H1058Y | nonsynonymous SNV | 0.259 | 0.093 |
GOLGA8J | NM_001282472 | 15 | 12 | c.G992A | p.R331H | nonsynonymous SNV | 0.181 | 0.095 |
PCLO | NM_014510 | 7 | 13 | c.T13947G | p.H4649Q | nonsynonymous SNV | 0.243 | 0.119 |
PTEN | NM_000314 | 10 | 5 | c.492 + 1G > A | p.V85Gfs*14 | splicing | 0.476 | 0.207 |
RLF | NM_012421 | 1 | 8 | c.4563_4567del | p.I1521fs | frameshift deletion | 0.357 | 0.218 |
TP53 | NM_000546 | 17 | 8 | c.G836A | p.G279E | nonsynonymous SNV | 0.481 | 0.176 |
YY2 | NM_206923 | X | 1 | c.G813A | p.M271I | nonsynonymous SNV | 0.614 | 0.176 |