Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
5-112102063-CT-AG | APC | c.176_177delCTinsAG | p.A59E | Missense | 3/16 | - |
12-25380231-T-A | KRAS | c.227A>T | p.E76V | Missense | 3/5 | - |
2-39239287-T-A | SOS1 | c.2370A>T | p.L790F | Missense | 14/23 | - |
2-39239287-T-G | SOS1 | c.2370A>C | p.L790F | Missense | 14/23 | - |
10-123274636-C-G | FGFR2 | c.1282G>C | p.V428L | Missense | 9/18 | - |
12-112926884-TC-AA | PTPN11 | c.1504_1505delTCinsAA | p.S502K | Missense | 13/16 | - |
10-123274634-TAC-CAT | FGFR2 | c.1282_1284delGTAinsATG | p.V428M | Missense | 9/18 | - |
10-123274636-C-A | FGFR2 | c.1282G>T | p.V428L | Missense | 9/18 | - |
10-123325110-G-A | FGFR2 | c.218C>T | p.T73I | Missense | 3/18 | - |
10-123256106-C-G | FGFR2 | c.1803G>C | p.K601N | Missense | 13/18 | - |
10-123256106-C-A | FGFR2 | c.1803G>T | p.K601N | Missense | 13/18 | - |
18-42532718-G-C | SETBP1 | c.3413G>C | p.G1138A | Missense | 4/6 | - |
12-112888202-C-T | PTPN11 | c.218C>T | p.T73I | Missense | 3/16 | - |
4-1807371-C-A | FGFR3 | c.1620C>A | p.N540K | Missense | 12/18 | - |
17-7578490-A-C | TP53 | c.440T>G | p.V147G | Missense | 5/11 | - |
4-1807371-C-G | FGFR3 | c.1620C>G | p.N540K | Missense | 12/18 | - |
10-43617415-ATG-TAT | RET | c.2752_2754delATGinsTAT | p.M918Y | Missense | 16/20 | - |
12-112888211-A-C | PTPN11 | c.227A>C | p.E76A | Missense | 3/16 | - |
10-123274803-G-C | FGFR2 | c.1115C>G | p.S372C | Missense | 9/18 | - |
17-7577144-A-C | TP53 | c.794T>G | p.L265R | Missense | 8/11 | - |
10-123276865-G-C | FGFR2 | c.1052C>G | p.S351C | Missense | 8/18 | - |
10-123276893-A-T | FGFR2 | c.1024T>A | p.C342S | Missense | 8/18 | - |
10-123276898-T-C | FGFR2 | c.1019A>G | p.Y340C | Missense | 8/18 | - |
10-123279562-C-A | FGFR2 | c.870G>T | p.W290C | Missense | 7/18 | - |
10-123279562-C-G | FGFR2 | c.870G>C | p.W290C | Missense | 7/18 | - |
10-123279566-T-G | FGFR2 | c.866A>C | p.Q289P | Missense | 7/18 | - |
10-123279677-G-A | FGFR2 | c.755C>T | p.S252L | Missense | 7/18 | - |
4-1805540-C-G | FGFR3 | c.1052C>G | p.S351C | Missense | 8/18 | - |
4-1805519-C-T | FGFR3 | c.1031C>T | p.S344F | Missense | 8/18 | - |
4-1808029-C-G | FGFR3 | c.2005C>G | p.R669G | Missense | 15/18 | - |
4-1807488-G-A | FGFR3 | c.1657G>A | p.V553M | Missense | 13/18 | - |
12-112888211-A-T | PTPN11 | c.227A>T | p.E76V | Missense | 3/16 | - |
12-112891083-G-T | PTPN11 | c.417G>T | p.E139D | Missense | 4/16 | - |
19-4110584-A-T | MAP2K2 | c.373T>A | p.C125S | Missense | 3/11 | - |
12-112888199-C-A | PTPN11 | c.215C>A | p.A72D | Missense | 3/16 | - |
10-43613906-G-C | RET | c.2370G>C | p.L790F | Missense | 13/20 | - |
10-43613906-G-T | RET | c.2370G>T | p.L790F | Missense | 13/20 | - |
12-112888210-G-C | PTPN11 | c.226G>C | p.E76Q | Missense | 3/16 | - |
7-140453155-C-G | BRAF | c.1780G>C | p.D594H | Missense | 15/18 | - |
1-243668575-G-C | AKT3 | c.1416C>G | p.S472= | Synonymous | 14/14 | - |
5-112175762-T-G | APC | c.4471T>G | p.F1491V | Missense | 16/16 | - |
7-140482928-G-C | BRAF | c.1207C>G | p.P403A | Missense | 10/18 | - |
7-140449196-T-G | BRAF | c.1883A>C | p.Q628P | Missense | 16/18 | - |
7-140439614-G-T | BRAF | c.2125C>A | p.Q709K | Missense | 17/18 | - |
10-123279605-A-C | FGFR2 | c.827T>G | p.F276C | Missense | 7/18 | - |
12-25380282-G-T | KRAS | c.176C>A | p.A59E | Missense | 3/5 | - |
12-112888197-T-G | PTPN11 | c.213T>G | p.F71L | Missense | 3/16 | - |
12-112888198-G-C | PTPN11 | c.214G>C | p.A72P | Missense | 3/16 | - |
12-112924336-G-A | PTPN11 | c.1282G>A | p.V428M | Missense | 11/16 | - |
12-112924336-G-T | PTPN11 | c.1282G>T | p.V428L | Missense | 11/16 | - |
12-112926908-C-A | PTPN11 | c.1528C>A | p.Q510K | Missense | 13/16 | - |
10-43615613-G-T | RET | c.2692G>T | p.D898Y | Missense | 15/20 | - |
2-39250292-T-G | SOS1 | c.1277A>C | p.Q426P | Missense | 10/23 | - |
11-119148991-G-A | CBL | c.1211G>A | p.C404Y | Missense | 8/16 | - |
11-68115514-C-T | LRP5 | c.291C>T | p.A97= | Synonymous | 2/23 | - |
17-29554264-G-A | NF1 | c.2280G>A | p.M760I | Missense | 19/58 | - |
12-112888166-A-C | PTPN11 | c.182A>C | p.D61A | Missense | 3/16 | - |
12-112915455-T-G | PTPN11 | c.854T>G | p.F285C | Missense | 8/16 | - |
12-112926890-A-G | PTPN11 | c.1510A>G | p.M504V | Missense | 13/16 | - |
7-140453096-C-G | BRAF | c.1839G>C | p.L613F | Missense | 15/18 | - |
12-112888162-G-C | PTPN11 | c.178G>C | p.G60R | Missense | 3/16 | - |
3-12645688-G-C | RAF1 | c.781C>G | p.P261A | Missense | 7/17 | - |
3-30729984-G-T | TGFBR2 | c.1505G>T | p.S502I | Missense | 6/7 | - |
19-15303217-A-C | NOTCH3 | c.311T>G | p.F104C | Missense | 3/33 | - |
X-70349047-C-A | MED12 | c.3559C>A | p.P1187T | Missense | 25/45 | - |
5-112175173-G-A | APC | c.3882G>A | p.Q1294= | Synonymous | 16/16 | - |
7-140439679-T-G | BRAF | c.2060A>C | p.K687T | Missense | 17/18 | - |
12-112926884-T-A | PTPN11 | c.1504T>A | p.S502T | Missense | 13/16 | - |
3-129251230-T-C | RHO | c.667T>C | p.Y223H | Missense | 3/5 | - |
17-7576897-G-C | TP53 | c.949C>G | p.Q317E | Missense | 9/11 | - |
12-6646840-A-G | GAPDH | c.616A>G | p.I206V | Missense | 8/9 | - |
7-140476802-G-C | BRAF | c.1604C>G | p.S535C | Missense | 13/18 | - |
17-29533271-G-C | NF1 | c.1274G>C | p.W425S | Missense | 12/58 | - |
2-39250064-T-G | SOS1 | c.1505A>C | p.N502T | Missense | 10/23 | - |
1-120510852-A-C | NOTCH2 | c.1112T>G | p.L371R | Missense | 7/34 | - |
10-123324043-A-C | FGFR2 | c.427T>G | p.F143V | Missense | 4/18 | - |
10-89720716-A-T | PTEN | c.867A>T | p.K289N | Missense | 8/9 | - |
2-39285879-T-G | SOS1 | c.280A>C | p.I94L | Missense | 3/23 | - |
2-39262566-G-T | SOS1 | c.940C>A | p.Q314K | Missense | 7/23 | - |
2-29432719-A-C | ALK | c.3769T>G | p.L1257V | Missense | 25/29 | - |
9-139399372-G-C | NOTCH1 | c.4771C>G | p.H1591D | Missense | 26/34 | - |
3-133118979-A-C | BFSP2 | c.52A>C | p.M18L | Missense | 1/7 | - |
11-113934757-G-C | ZBTB16 | c.735G>C | p.M245I | Missense | 2/7 | - |
12-6645897-C-G | GAPDH | c.177C>G | p.T59= | Synonymous | 4/9 | - |
17-7577502-G-T | TP53 | c.779C>A | p.S260Y | Missense | 7/11 | - |
11-113934759-T-G | ZBTB16 | c.737T>G | p.M246R | Missense | 2/7 | - |
5-137802578-A-T | EGR1 | c.440A>T | p.N147I | Missense | 2/2 | - |
11-114027124-T-A | ZBTB16 | c.1334T>A | p.L445* | Nonsense | 3/7 | - |
17-37881377-A-C | ERBB2 | c.2569A>C | p.N857H | Missense | 21/27 | - |
3-178941885-T-G | PIK3CA | c.2204T>G | p.L735* | Nonsense | 15/21 | - |
11-119155691-C-G | CBL | c.1444C>G | p.P482A | Missense | 10/16 | - |
10-43610089-C-G | RET | c.2041C>G | p.Q681E | Missense | 11/20 | - |
19-42474682-A-C | ATP1A3 | c.2276T>G | p.F759C | Missense | 17/23 | - |
3-12645662-G-C | RAF1 | c.807C>G | p.T269= | Synonymous | 7/17 | - |
11-119149260-T-A | CBL | c.1268T>A | p.I423N | Missense | 9/16 | - |
1-243668564-C-G | AKT3 | c.1427G>C | p.S476T | Missense | 14/14 | - |
19-49993814-C-G | RPL13A | c.237C>G | p.I79M | Missense | 4/8 | - |
7-116340333-A-C | MET | c.1195A>C | p.N399H | Missense | 2/21 | - |
1-120510087-C-A | NOTCH2 | c.1422G>T | p.K474N | Missense | 8/34 | - |
1-120510197-C-G | NOTCH2 | c.1312G>C | p.G438R | Missense | 8/34 | - |
7-55249124-A-C | EGFR | c.2422A>C | p.N808H | Missense | 20/28 | - |
7-148506475-C-G | EZH2 | c.2037G>C | p.V679= | Synonymous | 18/20 | - |
1-120458186-G-C | NOTCH2 | c.7159C>G | p.P2387A | Missense | 34/34 | - |
12-6646310-C-G | GAPDH | c.371C>G | p.P124R | Missense | 6/9 | - |
1-120458731-T-G | NOTCH2 | c.6614A>C | p.H2205P | Missense | 34/34 | - |
11-113935088-C-G | ZBTB16 | c.1066C>G | p.L356V | Missense | 2/7 | - |
7-148525970-A-C | EZH2 | c.487T>G | p.C163G | Missense | 6/20 | - |
3-178947133-A-C | PIK3CA | c.2569A>C | p.I857L | Missense | 18/21 | - |
3-140123411-A-T | CLSTN2 | c.440A>T | p.H147L | Missense | 4/17 | - |
3-12650359-A-C | RAF1 | c.487T>G | p.F163V | Missense | 5/17 | - |
4-1803135-C-G | FGFR3 | c.487C>G | p.L163V | Missense | 5/18 | - |
12-112888199-C-G | PTPN11 | c.215C>G | p.A72G | Missense | 3/16 | - |
12-112884102-G-C | PTPN11 | c.37G>C | p.G13R | Missense | 2/16 | - |
5-112102063-C-G | APC | c.176C>G | p.A59G | Missense | 3/16 | - |
12-25380231-T-G | KRAS | c.227A>C | p.E76A | Missense | 3/5 | - |