Table 3.
Coding effect | Gene | Coding DNA sequence1 | Protein sequence 1 | Transcript | Patients tumor sample no. |
---|---|---|---|---|---|
Splicing mutation | CBL | c.1096−1G>A | p. ? | NM_005188 | 5 |
Potential splicing mutations | mTOR | c.2514+3G>C | p. ? | NM_004958 | 15 |
MYH15 | c.1993−14G>A | p. ? | NM_014981 | 14 | |
NF1 | c.1392+5G>T | p. ? | NM_001042492 | 21 | |
Nonsense mutations | C11orf30 | c.3004C>T | p.Gln1002* | NM_020193 | 26 |
CEACAM5 | c.646G>T | p.Glu216* | NM_004363 | 26 | |
EPHA5 | c.2458G>T | p.Gly820* | NM_004439 | 6 | |
FBXW7 | c.1053G>A | p.Trp351* | NM_033632 | 26 | |
MLH1 | c.1630C>Tc.755C>T | p.Gln544*p.Ser252* | NM_000249 | 20 5 | |
RB1 | c.1399C>T | p.Arg467* | NM_000321 | 5 | |
Frameshift mutations | CASP8 | c.790dup | p.Val264Glyfs*13 | NM_001080125 | 5 |
CHEK2 | c.1229del | p.Thr410Metfs*15 | NM_001005735 | 11 | |
CREBBP | c.4477dup | p.Ile1493Asnfs*26 | NM_004380 | 5 | |
FGFR2 | c.962dup | p.Asn321Lysfs*21 | NM_022970 | 5 | |
FGFR4 | c.2396_2403del | p.Gly799Aspfs*12 | NM_213647 | 7 | |
NF1 | c.5907_5908delc.2033del | p.Arg1970Serfs*6p.Pro678Argfs*10 | NM_001042492 | 5 | |
NF2 | c.301del | p.Tyr101Ilefs*22 | NM_181832 | 16 | |
NOTCH2 | c.6909del | p.Ile2304Leufs*2 | NM_024408 | 5 |
Mutations are classified by mutation type.
Nomenclature according HGVS guidelines (Human Genome Variation Society).