Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
5-41927151-C-A | FBXO4 | c.226C>A | p.P76T | Missense | 2/7 | - |
5-41925446-C-T | FBXO4 | c.35C>T | p.S12L | Missense | 1/7 | - |
5-41925479-T-A | FBXO4 | c.68T>A | p.L23Q | Missense | 1/7 | - |
19-4117551-A-T | MAP2K2 | c.169T>A | p.F57I | Missense | 2/11 | - |
4-55592102-AG-TT | KIT | c.1426_1427delAGinsTT | p.S476F | Missense | 9/21 | - |
4-55593446-A-G | KIT | c.1603A>G | p.M535V | Missense | 10/21 | - |
4-55593591-TAT-AAG | KIT | c.1657_1659delTATinsAAG | p.Y553K | Missense | 11/21 | - |
4-55593651-C-G | KIT | c.1717C>G | p.P573A | Missense | 11/21 | - |
2-39241008-C-T | SOS1 | c.2063G>A | p.R688Q | Missense | 12/23 | - |
2-39234181-G-T | SOS1 | c.2664C>A | p.H888Q | Missense | 16/23 | - |
2-39234181-G-C | SOS1 | c.2664C>G | p.H888Q | Missense | 16/23 | - |
4-55597567-A-G | KIT | c.2215A>G | p.R739G | Missense | 15/21 | - |
4-55598055-A-G | KIT | c.2252A>G | p.D751G | Missense | 16/21 | - |
4-55598060-A-G | KIT | c.2257A>G | p.T753A | Missense | 16/21 | - |
1-115256569-C-T | NRAS | c.142G>A | p.G48S | Missense | 3/7 | - |
4-55599320-GA-TT | KIT | c.2446_2447delGAinsTT | p.D816F | Missense | 17/21 | - |
4-55595563-A-G | KIT | c.2053A>G | p.K685E | Missense | 14/21 | - |
2-39278406-C-T | SOS1 | c.743G>A | p.R248H | Missense | 6/23 | - |
4-55139774-C-G | PDGFRA | c.1435C>G | p.R479G | Missense | 10/23 | - |
4-55139775-G-T | PDGFRA | c.1436G>T | p.R479L | Missense | 10/23 | - |
4-1803664-C-T | FGFR3 | c.842C>T | p.A281V | Missense | 7/18 | - |
4-55602694-G-A | KIT | c.2515G>A | p.E839K | Missense | 18/21 | - |
4-55144547-C-T | PDGFRA | c.2021C>T | p.T674I | Missense | 15/23 | - |
7-55241678-A-T | EGFR | c.2126A>T | p.E709V | Missense | 18/28 | - |
4-55593609-G-A | KIT | c.1675G>A | p.V559I | Missense | 11/21 | - |
3-178952013-G-A | PIK3CA | c.3068G>A | p.R1023Q | Missense | 21/21 | - |
1-115258730-C-T | NRAS | c.52G>A | p.A18T | Missense | 2/7 | - |
7-55242484-TC-AT | EGFR | c.2254_2255delTCinsAT | p.S752I | Missense | 19/28 | - |
4-1807890-A-C | FGFR3 | c.1949A>C | p.K650T | Missense | 14/18 | - |
4-1807889-A-C | FGFR3 | c.1948A>C | p.K650Q | Missense | 14/18 | - |
7-55242482-C-T | EGFR | c.2252C>T | p.T751I | Missense | 19/28 | - |
4-55595518-AC-GA | KIT | c.2008_2009delACinsGA | p.T670E | Missense | 14/21 | - |
4-55599322-C-G | KIT | c.2448C>G | p.D816E | Missense | 17/21 | - |
4-55599322-C-A | KIT | c.2448C>A | p.D816E | Missense | 17/21 | - |
4-55152092-G-T | PDGFRA | c.2524G>T | p.D842Y | Missense | 18/23 | - |
4-55593448-G-C | KIT | c.1605G>C | p.M535I | Missense | 10/21 | - |
4-55593448-G-A | KIT | c.1605G>A | p.M535I | Missense | 10/21 | - |
4-55593448-G-T | KIT | c.1605G>T | p.M535I | Missense | 10/21 | - |
12-25380279-C-T | KRAS | c.179G>A | p.G60D | Missense | 3/5 | - |
11-533873-C-G | HRAS | c.183G>C | p.Q61H | Missense | 3/6 | - |
11-534289-C-G | HRAS | c.34G>C | p.G12R | Missense | 2/6 | - |
7-116398657-AACC-A | MET | c.2249_2251delCCA | p.T750del | InFrameDeletion | 9/21 | - |
3-178938860-A-C | PIK3CA | c.2102A>C | p.H701P | Missense | 14/21 | - |
7-140481418-C-T | BRAF | c.1390G>A | p.G464R | Missense | 11/18 | - |
7-140481418-C-G | BRAF | c.1390G>C | p.G464R | Missense | 11/18 | - |
7-140481405-A-C | BRAF | c.1403T>G | p.F468C | Missense | 11/18 | - |
9-133748403-A-G | ABL1 | c.1064A>G | p.E355G | Missense | 6/11 | - |
7-140481401-TCC-GCT | BRAF | c.1405_1407delGGAinsAGC | p.G469S | Missense | 11/18 | - |
7-55242484-TC-GA | EGFR | c.2254_2255delTCinsGA | p.S752D | Missense | 19/28 | - |
9-133748270-T-C | ABL1 | c.931T>C | p.F311L | Missense | 6/11 | - |
9-133748272-C-A | ABL1 | c.933C>A | p.F311L | Missense | 6/11 | - |
9-133748272-C-G | ABL1 | c.933C>G | p.F311L | Missense | 6/11 | - |
9-133747520-A-G | ABL1 | c.827A>G | p.D276G | Missense | 5/11 | - |
7-55242481-A-G | EGFR | c.2251A>G | p.T751A | Missense | 19/28 | - |
4-55593613-TT-AG | KIT | c.1679_1680delTTinsAG | p.V560E | Missense | 11/21 | - |
4-55593604-GGAA-G | KIT | c.1672_1674delAAG | p.K558del | InFrameDeletion | 11/21 | - |
4-55593689-C-A | KIT | c.1755C>A | p.P585= | Synonymous | 11/21 | - |
4-55593659-ACTT-A | KIT | c.1727_1729delTTC | p.L576del | InFrameDeletion | 11/21 | - |
4-55152101-CATG-C | PDGFRA | c.2536_2538delGAT | p.D846del | InFrameDeletion | 18/23 | - |
4-55593689-C-T | KIT | c.1755C>T | p.P585= | Synonymous | 11/21 | - |
4-55593689-C-G | KIT | c.1755C>G | p.P585= | Synonymous | 11/21 | - |
8-38282209-G-T | FGFR1 | c.754C>A | p.P252T | Missense | 7/18 | - |
8-38285938-G-A | FGFR1 | c.374C>T | p.S125L | Missense | 4/18 | - |
4-55593615-G-A | KIT | c.1681G>A | p.E561K | Missense | 11/21 | - |
3-178921495-C-T | PIK3CA | c.977C>T | p.S326F | Missense | 5/21 | - |
4-55593614-TGAG-T | KIT | c.1684_1686delGAG | p.E562del | InFrameDeletion | 11/21 | - |
19-4117550-A-C | MAP2K2 | c.170T>G | p.F57C | Missense | 2/11 | - |
4-55144148-C-G | PDGFRA | c.1977C>G | p.N659K | Missense | 14/23 | - |
4-55144148-C-A | PDGFRA | c.1977C>A | p.N659K | Missense | 14/23 | - |
3-178936096-G-C | PIK3CA | c.1638G>C | p.Q546H | Missense | 10/21 | - |
11-533874-T-G | HRAS | c.182A>C | p.Q61P | Missense | 3/6 | - |
4-55161380-G-A | PDGFRA | c.3211G>A | p.D1071N | Missense | 23/23 | - |
3-178952117-A-T | PIK3CA | c.3172A>T | p.I1058F | Missense | 21/21 | - |
19-4117551-A-G | MAP2K2 | c.169T>C | p.F57L | Missense | 2/11 | - |
7-140481477-C-T | BRAF | c.1331G>A | p.R444Q | Missense | 11/18 | - |
13-28622490-T-C | FLT3 | c.1127A>G | p.Y376C | Missense | 9/24 | - |
19-4117549-A-T | MAP2K2 | c.171T>A | p.F57L | Missense | 2/11 | - |
19-4117549-A-C | MAP2K2 | c.171T>G | p.F57L | Missense | 2/11 | - |
4-55561764-G-A | KIT | c.154G>A | p.D52N | Missense | 2/21 | - |
3-178952006-T-C | PIK3CA | c.3061T>C | p.Y1021H | Missense | 21/21 | - |
4-55593588-A-C | KIT | c.1654A>C | p.M552L | Missense | 11/21 | - |
4-55593588-A-T | KIT | c.1654A>T | p.M552L | Missense | 11/21 | - |
17-37880997-G-A | ERBB2 | c.2326G>A | p.G776S | Missense | 20/27 | - |
3-178951964-G-C | PIK3CA | c.3019G>C | p.G1007R | Missense | 21/21 | - |
13-28592634-CATG-C | FLT3 | c.2508_2510delCAT | p.I836del | InFrameDeletion | 20/24 | - |
7-140481478-G-A | BRAF | c.1330C>T | p.R444W | Missense | 11/18 | - |
4-55599348-T-C | KIT | c.2474T>C | p.V825A | Missense | 17/21 | - |
3-41266125-C-G | CTNNB1 | c.122C>G | p.T41S | Missense | 3/15 | - |
3-41266124-A-T | CTNNB1 | c.121A>T | p.T41S | Missense | 3/15 | - |
7-140453137-C-A | BRAF | c.1798G>T | p.V600L | Missense | 15/18 | - |
4-55594262-T-G | KIT | c.1965T>G | p.N655K | Missense | 13/21 | - |
4-55593652-C-T | KIT | c.1718C>T | p.P573L | Missense | 11/21 | - |
4-55594262-T-A | KIT | c.1965T>A | p.N655K | Missense | 13/21 | - |
4-55599334-T-G | KIT | c.2460T>G | p.D820E | Missense | 17/21 | - |
4-55593591-T-A | KIT | c.1657T>A | p.Y553N | Missense | 11/21 | - |
15-66729193-A-G | MAP2K1 | c.401A>G | p.Y134C | Missense | 3/11 | - |
15-66774126-G-A | MAP2K1 | c.602G>A | p.R201H | Missense | 6/11 | - |
3-178952018-A-T | PIK3CA | c.3073A>T | p.T1025S | Missense | 21/21 | - |
7-55241677-GAA-CAT | EGFR | c.2125_2127delGAAinsCAT | p.E709H | Missense | 18/28 | - |
4-55593600-ACAG-A | KIT | c.1666_1668delCAG | p.Q556del | InFrameDeletion | 11/21 | - |
4-55594197-C-T | KIT | c.1900C>T | p.R634W | Missense | 13/21 | - |
15-66774131-G-C | MAP2K1 | c.607G>C | p.E203Q | Missense | 6/11 | - |
7-140481420-A-C | BRAF | c.1388T>G | p.I463S | Missense | 11/18 | - |
7-140481423-C-A | BRAF | c.1385G>T | p.R462I | Missense | 11/18 | - |
4-55599338-A-C | KIT | c.2464A>C | p.N822H | Missense | 17/21 | - |
12-112926900-C-A | PTPN11 | c.1520C>A | p.T507K | Missense | 13/16 | - |
4-55599299-T-G | KIT | c.2425T>G | p.C809G | Missense | 17/21 | - |
4-55593640-T-G | KIT | c.1706T>G | p.V569G | Missense | 11/21 | - |
4-55599321-A-C | KIT | c.2447A>C | p.D816A | Missense | 17/21 | - |
4-55599321-A-G | KIT | c.2447A>G | p.D816G | Missense | 17/21 | - |
4-55593608-G-C | KIT | c.1674G>C | p.K558N | Missense | 11/21 | - |
4-55593608-G-T | KIT | c.1674G>T | p.K558N | Missense | 11/21 | - |
10-43610039-C-A | RET | c.1991C>A | p.A664D | Missense | 11/20 | - |
4-55153643-A-G | PDGFRA | c.2609A>G | p.N870S | Missense | 19/23 | - |
7-140453137-C-G | BRAF | c.1798G>C | p.V600L | Missense | 15/18 | - |
4-55593654-A-G | KIT | c.1720A>G | p.T574A | Missense | 11/21 | - |
4-55593595-AAGT-A | KIT | c.1663_1665delGTA | p.V555del | InFrameDeletion | 11/21 | - |
19-40741860-C-T | AKT2 | c.1112G>A | p.R371H | Missense | 11/14 | - |
4-55151638-T-G | PDGFRA | c.2424T>G | p.F808L | Missense | 17/23 | - |
4-55593636-T-G | KIT | c.1702T>G | p.Y568D | Missense | 11/21 | - |
4-55593685-T-C | KIT | c.1751T>C | p.F584S | Missense | 11/21 | - |
10-43609943-AGCT-A | RET | c.1897_1899delCTG | p.L633del | InFrameDeletion | 11/20 | - |
4-55152101-GCAT-G | PDGFRA | c.2533_2535delCAT | p.H845del | InFrameDeletion | 18/23 | - |
15-66727442-T-C | MAP2K1 | c.158T>C | p.F53S | Missense | 2/11 | - |
4-55152114-A-G | PDGFRA | c.2546A>G | p.Y849C | Missense | 18/23 | - |
19-40742220-T-C | AKT2 | c.904A>G | p.S302G | Missense | 10/14 | - |
4-55151636-T-C | PDGFRA | c.2422T>C | p.F808L | Missense | 17/23 | - |
4-55151638-T-A | PDGFRA | c.2424T>A | p.F808L | Missense | 17/23 | - |
3-178952049-C-T | PIK3CA | c.3104C>T | p.A1035V | Missense | 21/21 | - |
4-55599332-G-C | KIT | c.2458G>C | p.D820H | Missense | 17/21 | - |
19-4090636-C-T | MAP2K2 | c.1163G>A | p.R388Q | Missense | 11/11 | - |
3-178952048-G-A | PIK3CA | c.3103G>A | p.A1035T | Missense | 21/21 | - |
4-55597498-G-A | KIT | c.2146G>A | p.D716N | Missense | 15/21 | - |
4-55593607-A-G | KIT | c.1673A>G | p.K558R | Missense | 11/21 | - |
4-55593630-A-G | KIT | c.1696A>G | p.N566D | Missense | 11/21 | - |
7-140453091-C-T | BRAF | c.1844G>A | p.G615E | Missense | 15/18 | - |
4-55595636-CA-TT | KIT | c.2126_2127delCAinsTT | p.S709F | Missense | 14/21 | - |
7-55242485-C-T | EGFR | c.2255C>T | p.S752F | Missense | 19/28 | - |
4-55593627-G-A | KIT | c.1693G>A | p.G565R | Missense | 11/21 | - |
12-25380282-G-A | KRAS | c.176C>T | p.A59V | Missense | 3/5 | - |
3-178952139-A-T | PIK3CA | c.3194A>T | p.H1065L | Missense | 21/21 | - |
5-41925499-GG-AA | FBXO4 | c.88_89delGGinsAA | p.G30N | Missense | 1/7 | - |
5-41925435-C-G | FBXO4 | c.24C>G | p.S8R | Missense | 1/7 | - |
3-178952019-C-T | PIK3CA | c.3074C>T | p.T1025I | Missense | 21/21 | - |
4-55139775-G-A | PDGFRA | c.1436G>A | p.R479Q | Missense | 10/23 | - |
4-55592151-A-G | KIT | c.1475A>G | p.K492R | Missense | 9/21 | - |
4-55595534-A-G | KIT | c.2024A>G | p.Y675C | Missense | 14/21 | - |
4-55593447-T-C | KIT | c.1604T>C | p.M535T | Missense | 10/21 | - |
4-55593627-G-C | KIT | c.1693G>C | p.G565R | Missense | 11/21 | - |
7-140481480-C-G | BRAF | c.1328G>C | p.R443T | Missense | 11/18 | - |