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. 2015 Jul 8;4(10):1484–1493. doi: 10.1002/cam4.492

Table 3.

Inactivating mutations

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.

¹

Nomenclature according HGVS guidelines (Human Genome Variation Society).