Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
7-140453136-A-T | BRAF | c.1799T>A | p.V600E | Missense | 15/18 | - |
7-55259524-T-A | EGFR | c.2582T>A | p.L861Q | Missense | 21/28 | - |
7-55221822-C-T | EGFR | c.866C>T | p.A289V | Missense | 7/28 | - |
7-55233043-G-T | EGFR | c.1793G>T | p.G598V | Missense | 15/28 | - |
7-55221821-G-A | EGFR | c.865G>A | p.A289T | Missense | 7/28 | - |
17-7578406-C-T | TP53 | c.524G>A | p.R175H | Missense | 5/11 | - |
12-25398284-C-T | KRAS | c.35G>A | p.G12D | Missense | 2/5 | - |
17-7577121-G-A | TP53 | c.817C>T | p.R273C | Missense | 8/11 | - |
17-7578526-C-A | TP53 | c.404G>T | p.C135F | Missense | 5/11 | - |
12-112888210-G-A | PTPN11 | c.226G>A | p.E76K | Missense | 3/16 | - |
17-7578517-G-A | TP53 | c.413C>T | p.A138V | Missense | 5/11 | - |
10-89717730-A-G | PTEN | c.755A>G | p.D252G | Missense | 7/9 | - |
7-55240690-C-G | EGFR | c.1934C>G | p.S645C | Missense | 17/28 | - |
2-209113112-C-T | IDH1 | c.395G>A | p.R132H | Missense | 4/10 | - |
17-7577565-T-C | TP53 | c.716A>G | p.N239S | Missense | 7/11 | - |
12-112888172-A-G | PTPN11 | c.188A>G | p.Y63C | Missense | 3/16 | - |
12-112888199-C-T | PTPN11 | c.215C>T | p.A72V | Missense | 3/16 | - |
7-86394514-G-A | GRM3 | c.53G>A | p.G18E | Missense | 2/6 | - |
10-89692896-G-A | PTEN | c.380G>A | p.G127E | Missense | 5/9 | - |
3-178952006-T-C | PIK3CA | c.3061T>C | p.Y1021H | Missense | 21/21 | - |
3-178951964-G-C | PIK3CA | c.3019G>C | p.G1007R | Missense | 21/21 | - |
10-89692923-G-T | PTEN | c.407G>T | p.C136F | Missense | 5/9 | - |
17-7578479-G-C | TP53 | c.451C>G | p.P151A | Missense | 5/11 | - |
5-56177843-C-G | MAP3K1 | c.2816C>G | p.S939C | Missense | 14/20 | - |
7-55268968-G-C | EGFR | c.3034G>C | p.D1012H | Missense | 25/28 | - |
17-7578262-C-T | TP53 | c.587G>A | p.R196Q | Missense | 6/11 | - |
10-89692851-T-C | PTEN | c.335T>C | p.L112P | Missense | 5/9 | - |
17-29508736-G-A | NF1 | c.663G>A | p.W221* | Nonsense | 7/58 | - |
5-1294065-CC-AT | TERT | c.935_936delGGinsAT | p.R312H | Missense | 2/16 | - |
9-5081828-G-C | JAK2 | c.2538G>C | p.E846D | Missense | 19/25 | - |
9-5081828-G-T | JAK2 | c.2538G>T | p.E846D | Missense | 19/25 | - |
X-76939492-G-A | ATRX | c.1256C>T | p.A419V | Missense | 9/35 | - |
5-38962438-T-C | RICTOR | c.1694A>G | p.Y565C | Missense | 19/38 | - |
2-29754929-G-A | ALK | c.1006C>T | p.P336S | Missense | 4/29 | - |
10-89720693-G-T | PTEN | c.844G>T | p.G282* | Nonsense | 8/9 | - |
17-29508735-G-A | NF1 | c.662G>A | p.W221* | Nonsense | 7/58 | - |
3-178916920-TGAA-T | PIK3CA | c.307_309delGAA | p.E103del | InFrameDeletion | 2/21 | - |
10-89653809-G-T | PTEN | c.107G>T | p.G36V | Missense | 2/9 | - |
10-89720826-A-G | PTEN | c.977A>G | p.D326G | Missense | 8/9 | - |
17-78867557-G-A | RPTOR | c.2293G>A | p.A765T | Missense | 20/34 | - |
17-29559092-G-T | NF1 | c.3199G>T | p.D1067Y | Missense | 25/58 | - |
7-55229201-G-C | EGFR | c.1508G>C | p.G503A | Missense | 13/28 | - |
1-27056271-CGGG-C | ARID1A | c.1267_1269delGGG | p.G423del | InFrameDeletion | 2/20 | - |
13-110437267-CGCG-C | IRS2 | c.1131_1133delCGC | p.A378del | InFrameDeletion | 1/2 | - |
12-1042189-CACG-C | RAD52 | c.34_36delCGT | p.R12del | InFrameDeletion | 2/12 | - |
20-57466818-CGC-TGG | GNAS | c.37_39delCGCinsTGG | p.R13W | Missense | 1/13 | - |
1-43803901-C-T | MPL | c.211C>T | p.R71W | Missense | 2/12 | - |
6-49421400-TCT-ATG | MMUT | c.979_981delAGAinsCAT | p.R327H | Missense | 5/13 | - |
19-11098425-C-T | SMARCA4 | c.943C>T | p.P315S | Missense | 6/35 | - |
9-5080644-AGA-TGG | JAK2 | c.2395_2397delAGAinsTGG | p.R799W | Missense | 18/25 | - |
2-29416173-C-G | ALK | c.4780G>C | p.E1594Q | Missense | 29/29 | - |