Type | Gene | Start | End | Ref | Alt | Function | NC change | AA change | AF |
---|---|---|---|---|---|---|---|---|---|
First genetic test | |||||||||
Germline | BRCA2 | chr13:32913773 | chr13:32913773 | G | T | stop-gained | c.G5281T | p.G1761X | N/A |
Mutant | PIK3CA | chr3:178936094 | chr3:178936094 | C | A | missense-variant | c.C1636A | p.Q546K | 17% |
Second genetic test | |||||||||
Germline | BRCA2 | chr13:32913773 | chr13:32913773 | G | T | stop-gained | c.G5281T | p.G1761X | N/A |
Mutant | PIK3CA | chr3:178936094 | chr3:178936094 | C | A | missense-variant | c.C1636A | p.Q546K | 0.4% |
Third genetic test | |||||||||
Germline | BRCA2 | chr13:32913773 | chr13:32913773 | G | T | stop-gained | c.G5281T | p.G1761X | N/A |
Mutant | PIK3CA | chr3:178936094 | chr3:178936094 | C | A | missense-variant | c.C1636A | p.Q546K | 19.9% |
Mutant | NKX2–1 | chr14:36987087 | chr14:36987087 | G | A | missense-variant | c.C512T | p.A171V | 7.1% |
Mutant | ERBB4 | chr2:212587159 | chr2:212587159 | G | C | missense-variant | c.C842G | p.A281G | 19.6% |
Mutant | RUNX1 | chr21:36164438 | chr21:36164467 | GGGCCTCCACACGGCCTCCTCCAGGCGCGC | – | inframe-deletion | c.1408_1437delGCGCGCCTGGAGGAGGCCGTGTGGAGGCCC | p.470-479del | 17.6% |
Mutant | NF1 | chr17:29496949 | chr17:29496949 | G | A | missense-variant | c.G520A | p.V174I | 16.6% |
Mutant | MET | chr7:116412084 | chr7:116412084 | T | C | intron-variant | c.T3082 + 41C | N/A | 6.1% |
Mutant | FGFR4 | chr5:176520737 | chr5:176520737 | C | A | missense-variant | c.C1480A | p.P494T | 1.5% |
Mutant | TET2 | chr4:106157937 | chr4:106157937 | T | – | frameshift-variant | c.2838delT | p.T946 fs | 0.2% |
Mutant | TET2 | chr4:106157939 | chr4:106157939 | A | C | missense-variant | c.A2840C | p.Q947P | 0.2% |