Table I.
Sample | Gene | Transcript | Base change | Codon change | Effect | Freq % | COSMIC ID | dbSNP |
---|---|---|---|---|---|---|---|---|
CN03 | ERBB2 | NM_004448.3 | c.2524G>A | p.Val842Ile | Missense | 10 | COSM14065 | rs1057519738 |
CN11 | EGFR | NM_005228.4 | c.2227G>A | p.Ala743Thr | Missense | 22 | – | rs759256622 |
CN11 | KRAS | NM_033360.3 | c.38G>A | p.Gly13Asp | Missense | 47 | COSM532 | rs112445441 |
CN13 | FGFR3 | NM_000142.4 | c.274delC | p.Gln92Serfs*6 | Frameshift | 28 | – | – |
CN14 | ALK | NM_004304.4 | c.4061G>T | p.Cys1354Phe | Missense | 16 | – | rs963770969 |
CN15 | PIK3CA | NM_006218.3 | c.328_330delGAA | p.Glu109del | Frameshift | 41 | COSM24710 | rs1060500031 |
CN16 | PIK3CA | NM_006218.3 | c.323G>A | p.Arg108His | Missense | 27 | COSM27497 | rs886042002 |
CN23 | PIK3CA | NM_006218.3 | c.328_330delGAA | p.Glu109del | Frameshift | 20 | COSM24710 | – |
CN27 | ERBB2 | NM_004448.3 | c.2033G>A | p.Arg678Gln | Missense | 9 | COSM436498 | rs1057519862 |
CN28 | PIK3CA | NM_006218.3 | c.1633G>A | p.Glu545Lys | Missense | 8 | COSM763 | rs104886003 |
CN34 | CTNNB1 | NM_001904.3 | c.98C>T | p.Ser33Phe | Missense | 6 | COSM5669 | rs121913400 |
CN38 | FGFR1 | NM_001174067.1 | c.2359C>T | p.Arg787Cys | Missense | 20 | – | – |
CN40 | KRAS | NM_033360.3 | c.34G>A | p.Gly12Ser | Missense | 24 | COSM517 | rs121913530 |
PIK3CA | NM_006218.3 | c.1633G>A | p.Glu545Lys | Missense | 7 | COSM763 | rs104886003 | |
CN44 | FGFR3 | NM_000142.4 | c.274delC | p.Gln92Serfs*6 | Frameshift | 18 | – | – |
PIK3CA | NM_006218.3 | c.1390T>G | p.Ser464Ala | Missense | 39 | – | – | |
CN46 | PIK3CA | NM_006218.3 | c.1633G>A | p.Glu545Lys | Missense | 23 | COSM763 | rs104886003 |
CN49 | BRAF | NM_004333.4 | c.1780G>A | p.Asp594Asn | Missense | 6 | COSM27639 | rs397516896 |
dbSNP, database for single nucleotide polymorphisms; freq, mutation frequency.