Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
7-140624470-C-T | BRAF | c.34G>A | p.A12T | Missense | 1/18 | - |
17-29496957-T-A | NF1 | c.528T>A | p.D176E | Missense | 5/58 | - |
7-140624470-C-G | BRAF | c.34G>C | p.A12P | Missense | 1/18 | - |
16-2112989-G-A | TSC2 | c.1378G>A | p.A460T | Missense | 14/42 | - |
17-29546050-C-T | NF1 | c.1555C>T | p.Q519* | Nonsense | 14/58 | - |
7-55268965-G-A | EGFR | c.3031G>A | p.V1011M | Missense | 25/28 | - |
7-140453987-T-A | BRAF | c.1741A>T | p.N581Y | Missense | 14/18 | - |
2-212566827-C-T | ERBB4 | c.1354G>A | p.E452K | Missense | 12/28 | - |
9-135786451-G-T | TSC1 | c.1079C>A | p.T360N | Missense | 11/23 | - |
17-29576033-C-T | NF1 | c.4006C>T | p.Q1336* | Nonsense | 30/58 | - |
7-140624393-CG-AA | BRAF | c.110_111delCGinsTT | p.S37F | Missense | 1/18 | - |
1-115258681-G-A | NRAS | c.101C>T | p.P34L | Missense | 2/7 | - |
7-140453185-G-A | BRAF | c.1750C>T | p.L584F | Missense | 15/18 | - |
7-140624470-C-A | BRAF | c.34G>T | p.A12S | Missense | 1/18 | - |
7-140549968-T-A | BRAF | c.183A>T | p.I61= | Synonymous | 2/18 | - |
16-2134508-G-T | TSC2 | c.4285G>T | p.A1429S | Missense | 34/42 | - |
3-12645688-G-A | RAF1 | c.781C>T | p.P261S | Missense | 7/17 | - |
7-140624393-CG-AT | BRAF | c.110_111delCGinsAT | p.S37Y | Missense | 1/18 | - |
4-55130065-C-G | PDGFRA | c.599C>G | p.T200S | Missense | 4/23 | - |
7-55241647-C-T | EGFR | c.2095C>T | p.P699S | Missense | 18/28 | - |
4-55131118-C-T | PDGFRA | c.661C>T | p.L221F | Missense | 5/23 | - |
10-89711913-T-G | PTEN | c.531T>G | p.Y177* | Nonsense | 6/9 | - |
4-55130064-A-T | PDGFRA | c.598A>T | p.T200S | Missense | 4/23 | - |
4-110902129-C-T | EGF | c.2369C>T | p.A790V | Missense | 15/24 | - |
4-55594215-G-A | KIT | c.1918G>A | p.E640K | Missense | 13/21 | - |
2-212251811-G-A | ERBB4 | c.3248C>T | p.A1083V | Missense | 27/28 | - |
9-135781200-G-A | TSC1 | c.1765C>T | p.P589S | Missense | 15/23 | - |
17-29496957-T-G | NF1 | c.528T>G | p.D176E | Missense | 5/58 | - |
5-149501578-C-T | PDGFRB | c.2209G>A | p.D737N | Missense | 16/23 | - |
2-212587251-C-T | ERBB4 | c.750G>A | p.M250I | Missense | 7/28 | - |
7-140549968-T-G | BRAF | c.183A>C | p.I61= | Synonymous | 2/18 | - |
2-212426786-G-A | ERBB4 | c.2329C>T | p.H777Y | Missense | 20/28 | - |
17-29654691-C-T | NF1 | c.5443C>T | p.Q1815* | Nonsense | 38/58 | - |
7-140624394-G-A | BRAF | c.110C>T | p.S37L | Missense | 1/18 | - |
2-212652800-T-C | ERBB4 | c.506A>G | p.N169S | Missense | 4/28 | - |
10-89711913-T-A | PTEN | c.531T>A | p.Y177* | Nonsense | 6/9 | - |
4-55143609-G-A | PDGFRA | c.1841G>A | p.G614E | Missense | 13/23 | - |
5-149501466-G-A | PDGFRB | c.2321C>T | p.P774L | Missense | 16/23 | - |
2-212288912-C-A | ERBB4 | c.2834G>T | p.C945F | Missense | 23/28 | - |
5-149505118-C-T | PDGFRB | c.1697G>A | p.W566* | Nonsense | 12/23 | - |
16-2110741-A-C | TSC2 | c.1046A>C | p.Y349S | Missense | 11/42 | - |
1-11187710-G-A | MTOR | c.6187C>T | p.Q2063* | Nonsense | 44/58 | - |
4-55161359-G-A | PDGFRA | c.3190G>A | p.D1064N | Missense | 23/23 | - |
2-212248740-T-G | ERBB4 | c.3527A>C | p.K1176T | Missense | 28/28 | - |
5-149505117-C-T | PDGFRB | c.1698G>A | p.W566* | Nonsense | 12/23 | - |
7-92355008-C-T | CDK6 | c.469G>A | p.G157R | Missense | 4/8 | - |
7-92355008-C-G | CDK6 | c.469G>C | p.G157R | Missense | 4/8 | - |
12-56495786-C-T | ERBB3 | c.3976C>T | p.P1326S | Missense | 28/28 | - |
17-37884011-G-A | ERBB2 | c.3482G>A | p.R1161Q | Missense | 27/27 | - |
X-47426634-C-G | ARAF | c.879C>G | p.N293K | Missense | 10/16 | - |
X-47426634-C-A | ARAF | c.879C>A | p.N293K | Missense | 10/16 | - |
2-212576779-G-T | ERBB4 | c.1120C>A | p.H374N | Missense | 9/28 | - |
3-12633234-G-A | RAF1 | c.1166C>T | p.A389V | Missense | 11/17 | - |
2-212615376-G-A | ERBB4 | c.610C>T | p.H204Y | Missense | 5/28 | - |
2-212288973-G-A | ERBB4 | c.2773C>T | p.P925S | Missense | 23/28 | - |
17-29546100-G-T | NF1 | c.1605G>T | p.Q535H | Missense | 14/58 | - |
17-29546100-G-C | NF1 | c.1605G>C | p.Q535H | Missense | 14/58 | - |
12-58143283-G-A | CDK4 | c.637C>T | p.L213F | Missense | 6/8 | - |
7-140624467-C-A | BRAF | c.37G>T | p.E13* | Nonsense | 1/18 | - |
7-140624394-G-T | BRAF | c.110C>A | p.S37* | Nonsense | 1/18 | - |
10-89711875-G-A | PTEN | c.493G>A | p.G165R | Missense | 6/9 | - |
10-89711875-G-C | PTEN | c.493G>C | p.G165R | Missense | 6/9 | - |
2-212488718-G-A | ERBB4 | c.2131C>T | p.R711C | Missense | 18/28 | - |
3-12633229-T-A | RAF1 | c.1171A>T | p.R391W | Missense | 11/17 | - |
4-55161380-G-A | PDGFRA | c.3211G>A | p.D1071N | Missense | 23/23 | - |
9-80409488-T-C | GNAQ | c.626A>G | p.Q209R | Missense | 5/7 | - |