Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.38413642_38418900dup | CA2580614557 | FGFR1 | c.1285-527_2455dup c.1273-527_2280+276dup n.1651_3348dup c.1465-527_2472+276dup c.1273-527_2443dup n.1973-527_3143dup c.1006-527_2176dup c.*931-527_*1938+276dup c.*1252-527_*2422dup n.2779-527_3949dup c.1012-527_2182dup c.1255-527_2425dup c.*335-527_*1505dup c.1018-527_2188dup c.1279-527_2449dup c.1378-527_2548dup n.3564-527_4734dup c.*180-527_*1350dup c.1285-527_2292+276dup c.1279-527_2286+276dup c.1261-527_2268+276dup c.1018-527_2025+276dup c.1012-527_2019+276dup c.1384-527_2391+276dup c.1378-527_2385+276dup c.1384-527_2554dup c.1117-527_2124+276dup c.1111-527_2118+276dup c.1111-527_2281dup c.994-527_2001+276dup c.1372-527_2379+276dup c.1372-527_2542dup c.1105-527_2275dup c.313-527_1320+276dup c.313-527_1483dup n.1533-527_2728dup n.1533-527_2565+276dup | |
8 | g.38413719_38419638dup | CA2740094990 | FGFR1 | c.1179_2378dup c.1173_2280+199dup n.913_3271dup c.1365_2472+199dup c.1173_2366dup n.1873_3066dup c.906_2099dup c.*831_*1938+199dup c.*1146_*2345dup n.2673_3872dup c.906_2105dup c.1155_2348dup c.*229_*1428dup c.912_2111dup c.1173_2372dup c.1272_2471dup n.3458_4657dup c.1179_2372dup c.*74_*1273dup c.1179_2292+199dup c.1173_2286+199dup c.1155_2268+199dup c.912_2025+199dup c.906_2019+199dup c.1278_2391+199dup c.1272_2385+199dup c.1278_2385+199dup c.1278_2477dup c.1278_2471dup c.1011_2124+199dup c.1005_2118+199dup c.1005_2204dup c.888_2001+199dup c.1272_2379+199dup c.1272_2465dup c.1179_2286+199dup c.1011_2204dup c.1005_2198dup c.213_1320+199dup c.213_1406dup n.1427_2651dup n.1427_2565+199dup | |
8 | g.38414158T>A | CA370728358 | FGFR1 | c.2180A>T (p.Asn727Ile) c.2168A>T (p.Asn723Ile) n.3073A>T n.1420A>T n.870A>T c.2360A>T (p.Asn787Ile) n.2868A>T c.1901A>T (p.Asn634Ile) c.*1826A>T (n.*1826A>T) c.*2147A>T (n.*2147A>T) n.3674A>T c.1907A>T (p.Asn636Ile) c.2150A>T (p.Asn717Ile) c.*1230A>T (n.*1230A>T) c.1913A>T (p.Asn638Ile) c.2174A>T (p.Asn725Ile) c.2273A>T (p.Asn758Ile) n.4459A>T c.380A>T (p.Asn127Ile) c.*1075A>T (n.*1075A>T) c.2156A>T (p.Asn719Ile) c.2279A>T (p.Asn760Ile) c.2012A>T (p.Asn671Ile) c.2006A>T (p.Asn669Ile) c.1889A>T (p.Asn630Ile) c.2267A>T (p.Asn756Ile) c.2000A>T (p.Asn667Ile) c.1208A>T (p.Asn403Ile) n.2453A>T | dbSNP |
8 | g.38414158T>C | CA370728360 | FGFR1 | c.2180A>G (p.Asn727Ser) c.2168A>G (p.Asn723Ser) n.3073A>G n.1420A>G n.870A>G c.2360A>G (p.Asn787Ser) n.2868A>G c.1901A>G (p.Asn634Ser) c.*1826A>G (n.*1826A>G) c.*2147A>G (n.*2147A>G) n.3674A>G c.1907A>G (p.Asn636Ser) c.2150A>G (p.Asn717Ser) c.*1230A>G (n.*1230A>G) c.1913A>G (p.Asn638Ser) c.2174A>G (p.Asn725Ser) c.2273A>G (p.Asn758Ser) n.4459A>G c.380A>G (p.Asn127Ser) c.*1075A>G (n.*1075A>G) c.2156A>G (p.Asn719Ser) c.2279A>G (p.Asn760Ser) c.2012A>G (p.Asn671Ser) c.2006A>G (p.Asn669Ser) c.1889A>G (p.Asn630Ser) c.2267A>G (p.Asn756Ser) c.2000A>G (p.Asn667Ser) c.1208A>G (p.Asn403Ser) n.2453A>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.38414158T>G | CA370728362 | FGFR1 | c.2180A>C (p.Asn727Thr) c.2168A>C (p.Asn723Thr) n.3073A>C n.1420A>C n.870A>C c.2360A>C (p.Asn787Thr) n.2868A>C c.1901A>C (p.Asn634Thr) c.*1826A>C (n.*1826A>C) c.*2147A>C (n.*2147A>C) n.3674A>C c.1907A>C (p.Asn636Thr) c.2150A>C (p.Asn717Thr) c.*1230A>C (n.*1230A>C) c.1913A>C (p.Asn638Thr) c.2174A>C (p.Asn725Thr) c.2273A>C (p.Asn758Thr) n.4459A>C c.380A>C (p.Asn127Thr) c.*1075A>C (n.*1075A>C) c.2156A>C (p.Asn719Thr) c.2279A>C (p.Asn760Thr) c.2012A>C (p.Asn671Thr) c.2006A>C (p.Asn669Thr) c.1889A>C (p.Asn630Thr) c.2267A>C (p.Asn756Thr) c.2000A>C (p.Asn667Thr) c.1208A>C (p.Asn403Thr) n.2453A>C | dbSNP |
8 | g.38414158T= | CA1777533759 | FGFR1 | c.2180A= (p.Asn727=) c.2168A= (p.Asn723=) n.3073A= n.1420A= n.870A= c.2360A= (p.Asn787=) n.2868A= c.1901A= (p.Asn634=) c.*1826A= (n.*1826A=) c.*2147A= (n.*2147A=) n.3674A= c.1907A= (p.Asn636=) c.2150A= (p.Asn717=) c.*1230A= (n.*1230A=) c.1913A= (p.Asn638=) c.2174A= (p.Asn725=) c.2273A= (p.Asn758=) n.4459A= c.380A= (p.Asn127=) c.*1075A= (n.*1075A=) c.2156A= (p.Asn719=) c.2279A= (p.Asn760=) c.2012A= (p.Asn671=) c.2006A= (p.Asn669=) c.1889A= (p.Asn630=) c.2267A= (p.Asn756=) c.2000A= (p.Asn667=) c.1208A= (p.Asn403=) n.2453A= | |
8 | g.38414159T>A | CA370728365 | FGFR1 | c.2179A>T (p.Asn727Tyr) c.2167A>T (p.Asn723Tyr) n.3072A>T n.1419A>T n.869A>T c.2359A>T (p.Asn787Tyr) n.2867A>T c.1900A>T (p.Asn634Tyr) c.*1825A>T (n.*1825A>T) c.*2146A>T (n.*2146A>T) n.3673A>T c.1906A>T (p.Asn636Tyr) c.2149A>T (p.Asn717Tyr) c.*1229A>T (n.*1229A>T) c.1912A>T (p.Asn638Tyr) c.2173A>T (p.Asn725Tyr) c.2272A>T (p.Asn758Tyr) n.4458A>T c.379A>T (p.Asn127Tyr) c.*1074A>T (n.*1074A>T) c.2155A>T (p.Asn719Tyr) c.2278A>T (p.Asn760Tyr) c.2011A>T (p.Asn671Tyr) c.2005A>T (p.Asn669Tyr) c.1888A>T (p.Asn630Tyr) c.2266A>T (p.Asn756Tyr) c.1999A>T (p.Asn667Tyr) c.1207A>T (p.Asn403Tyr) n.2452A>T | dbSNP |
8 | g.38414159T>C | CA370728368 | FGFR1 | c.2179A>G (p.Asn727Asp) c.2167A>G (p.Asn723Asp) n.3072A>G n.1419A>G n.869A>G c.2359A>G (p.Asn787Asp) n.2867A>G c.1900A>G (p.Asn634Asp) c.*1825A>G (n.*1825A>G) c.*2146A>G (n.*2146A>G) n.3673A>G c.1906A>G (p.Asn636Asp) c.2149A>G (p.Asn717Asp) c.*1229A>G (n.*1229A>G) c.1912A>G (p.Asn638Asp) c.2173A>G (p.Asn725Asp) c.2272A>G (p.Asn758Asp) n.4458A>G c.379A>G (p.Asn127Asp) c.*1074A>G (n.*1074A>G) c.2155A>G (p.Asn719Asp) c.2278A>G (p.Asn760Asp) c.2011A>G (p.Asn671Asp) c.2005A>G (p.Asn669Asp) c.1888A>G (p.Asn630Asp) c.2266A>G (p.Asn756Asp) c.1999A>G (p.Asn667Asp) c.1207A>G (p.Asn403Asp) n.2452A>G | dbSNP |
8 | g.38414159T>G | CA370728370 | FGFR1 | c.2179A>C (p.Asn727His) c.2167A>C (p.Asn723His) n.3072A>C n.1419A>C n.869A>C c.2359A>C (p.Asn787His) n.2867A>C c.1900A>C (p.Asn634His) c.*1825A>C (n.*1825A>C) c.*2146A>C (n.*2146A>C) n.3673A>C c.1906A>C (p.Asn636His) c.2149A>C (p.Asn717His) c.*1229A>C (n.*1229A>C) c.1912A>C (p.Asn638His) c.2173A>C (p.Asn725His) c.2272A>C (p.Asn758His) n.4458A>C c.379A>C (p.Asn127His) c.*1074A>C (n.*1074A>C) c.2155A>C (p.Asn719His) c.2278A>C (p.Asn760His) c.2011A>C (p.Asn671His) c.2005A>C (p.Asn669His) c.1888A>C (p.Asn630His) c.2266A>C (p.Asn756His) c.1999A>C (p.Asn667His) c.1207A>C (p.Asn403His) n.2452A>C | |
8 | g.38414160G>A | CA460499242 | FGFR1 | c.2178C>T (p.Thr726=) c.2166C>T (p.Thr722=) n.3071C>T n.1418C>T n.868C>T c.2358C>T (p.Thr786=) n.2866C>T c.1899C>T (p.Thr633=) c.*1824C>T (n.*1824C>T) c.*2145C>T (n.*2145C>T) n.3672C>T c.1905C>T (p.Thr635=) c.2148C>T (p.Thr716=) c.*1228C>T (n.*1228C>T) c.1911C>T (p.Thr637=) c.2172C>T (p.Thr724=) c.2271C>T (p.Thr757=) n.4457C>T c.378C>T (p.Thr126=) c.*1073C>T (n.*1073C>T) c.2154C>T (p.Thr718=) c.2277C>T (p.Thr759=) c.2010C>T (p.Thr670=) c.2004C>T (p.Thr668=) c.1887C>T (p.Thr629=) c.2265C>T (p.Thr755=) c.1998C>T (p.Thr666=) c.1206C>T (p.Thr402=) n.2451C>T | dbSNP |
8 | g.38414160G>C | CA460499241 | FGFR1 | c.2178C>G (p.Thr726=) c.2166C>G (p.Thr722=) n.3071C>G n.1418C>G n.868C>G c.2358C>G (p.Thr786=) n.2866C>G c.1899C>G (p.Thr633=) c.*1824C>G (n.*1824C>G) c.*2145C>G (n.*2145C>G) n.3672C>G c.1905C>G (p.Thr635=) c.2148C>G (p.Thr716=) c.*1228C>G (n.*1228C>G) c.1911C>G (p.Thr637=) c.2172C>G (p.Thr724=) c.2271C>G (p.Thr757=) n.4457C>G c.378C>G (p.Thr126=) c.*1073C>G (n.*1073C>G) c.2154C>G (p.Thr718=) c.2277C>G (p.Thr759=) c.2010C>G (p.Thr670=) c.2004C>G (p.Thr668=) c.1887C>G (p.Thr629=) c.2265C>G (p.Thr755=) c.1998C>G (p.Thr666=) c.1206C>G (p.Thr402=) n.2451C>G | |
8 | g.38414160G>T | CA460499240 | FGFR1 | c.2178C>A (p.Thr726=) c.2166C>A (p.Thr722=) n.3071C>A n.1418C>A n.868C>A c.2358C>A (p.Thr786=) n.2866C>A c.1899C>A (p.Thr633=) c.*1824C>A (n.*1824C>A) c.*2145C>A (n.*2145C>A) n.3672C>A c.1905C>A (p.Thr635=) c.2148C>A (p.Thr716=) c.*1228C>A (n.*1228C>A) c.1911C>A (p.Thr637=) c.2172C>A (p.Thr724=) c.2271C>A (p.Thr757=) n.4457C>A c.378C>A (p.Thr126=) c.*1073C>A (n.*1073C>A) c.2154C>A (p.Thr718=) c.2277C>A (p.Thr759=) c.2010C>A (p.Thr670=) c.2004C>A (p.Thr668=) c.1887C>A (p.Thr629=) c.2265C>A (p.Thr755=) c.1998C>A (p.Thr666=) c.1206C>A (p.Thr402=) n.2451C>A | dbSNP |
8 | g.38414161G>A | CA370728374 | FGFR1 | c.2177C>T (p.Thr726Ile) c.2165C>T (p.Thr722Ile) n.3070C>T n.1417C>T n.867C>T c.2357C>T (p.Thr786Ile) n.2865C>T c.1898C>T (p.Thr633Ile) c.*1823C>T (n.*1823C>T) c.*2144C>T (n.*2144C>T) n.3671C>T c.1904C>T (p.Thr635Ile) c.2147C>T (p.Thr716Ile) c.*1227C>T (n.*1227C>T) c.1910C>T (p.Thr637Ile) c.2171C>T (p.Thr724Ile) c.2270C>T (p.Thr757Ile) n.4456C>T c.377C>T (p.Thr126Ile) c.*1072C>T (n.*1072C>T) c.2153C>T (p.Thr718Ile) c.2276C>T (p.Thr759Ile) c.2009C>T (p.Thr670Ile) c.2003C>T (p.Thr668Ile) c.1886C>T (p.Thr629Ile) c.2264C>T (p.Thr755Ile) c.1997C>T (p.Thr666Ile) c.1205C>T (p.Thr402Ile) n.2450C>T | dbSNP |
8 | g.38414161G>C | CA370728375 | FGFR1 | c.2177C>G (p.Thr726Ser) c.2165C>G (p.Thr722Ser) n.3070C>G n.1417C>G n.867C>G c.2357C>G (p.Thr786Ser) n.2865C>G c.1898C>G (p.Thr633Ser) c.*1823C>G (n.*1823C>G) c.*2144C>G (n.*2144C>G) n.3671C>G c.1904C>G (p.Thr635Ser) c.2147C>G (p.Thr716Ser) c.*1227C>G (n.*1227C>G) c.1910C>G (p.Thr637Ser) c.2171C>G (p.Thr724Ser) c.2270C>G (p.Thr757Ser) n.4456C>G c.377C>G (p.Thr126Ser) c.*1072C>G (n.*1072C>G) c.2153C>G (p.Thr718Ser) c.2276C>G (p.Thr759Ser) c.2009C>G (p.Thr670Ser) c.2003C>G (p.Thr668Ser) c.1886C>G (p.Thr629Ser) c.2264C>G (p.Thr755Ser) c.1997C>G (p.Thr666Ser) c.1205C>G (p.Thr402Ser) n.2450C>G | dbSNP |
8 | g.38414161G>T | CA370728377 | FGFR1 | c.2177C>A (p.Thr726Asn) c.2165C>A (p.Thr722Asn) n.3070C>A n.1417C>A n.867C>A c.2357C>A (p.Thr786Asn) n.2865C>A c.1898C>A (p.Thr633Asn) c.*1823C>A (n.*1823C>A) c.*2144C>A (n.*2144C>A) n.3671C>A c.1904C>A (p.Thr635Asn) c.2147C>A (p.Thr716Asn) c.*1227C>A (n.*1227C>A) c.1910C>A (p.Thr637Asn) c.2171C>A (p.Thr724Asn) c.2270C>A (p.Thr757Asn) n.4456C>A c.377C>A (p.Thr126Asn) c.*1072C>A (n.*1072C>A) c.2153C>A (p.Thr718Asn) c.2276C>A (p.Thr759Asn) c.2009C>A (p.Thr670Asn) c.2003C>A (p.Thr668Asn) c.1886C>A (p.Thr629Asn) c.2264C>A (p.Thr755Asn) c.1997C>A (p.Thr666Asn) c.1205C>A (p.Thr402Asn) n.2450C>A | dbSNP |
8 | g.38414162T>A | CA370728380 | FGFR1 | c.2176A>T (p.Thr726Ser) c.2164A>T (p.Thr722Ser) n.3069A>T n.1416A>T n.866A>T c.2356A>T (p.Thr786Ser) n.2864A>T c.1897A>T (p.Thr633Ser) c.*1822A>T (n.*1822A>T) c.*2143A>T (n.*2143A>T) n.3670A>T c.1903A>T (p.Thr635Ser) c.2146A>T (p.Thr716Ser) c.*1226A>T (n.*1226A>T) c.1909A>T (p.Thr637Ser) c.2170A>T (p.Thr724Ser) c.2269A>T (p.Thr757Ser) n.4455A>T c.376A>T (p.Thr126Ser) c.*1071A>T (n.*1071A>T) c.2152A>T (p.Thr718Ser) c.2275A>T (p.Thr759Ser) c.2008A>T (p.Thr670Ser) c.2002A>T (p.Thr668Ser) c.1885A>T (p.Thr629Ser) c.2263A>T (p.Thr755Ser) c.1996A>T (p.Thr666Ser) c.1204A>T (p.Thr402Ser) n.2449A>T | dbSNP |
8 | g.38414162T>C | CA370728383 | FGFR1 | c.2176A>G (p.Thr726Ala) c.2164A>G (p.Thr722Ala) n.3069A>G n.1416A>G n.866A>G c.2356A>G (p.Thr786Ala) n.2864A>G c.1897A>G (p.Thr633Ala) c.*1822A>G (n.*1822A>G) c.*2143A>G (n.*2143A>G) n.3670A>G c.1903A>G (p.Thr635Ala) c.2146A>G (p.Thr716Ala) c.*1226A>G (n.*1226A>G) c.1909A>G (p.Thr637Ala) c.2170A>G (p.Thr724Ala) c.2269A>G (p.Thr757Ala) n.4455A>G c.376A>G (p.Thr126Ala) c.*1071A>G (n.*1071A>G) c.2152A>G (p.Thr718Ala) c.2275A>G (p.Thr759Ala) c.2008A>G (p.Thr670Ala) c.2002A>G (p.Thr668Ala) c.1885A>G (p.Thr629Ala) c.2263A>G (p.Thr755Ala) c.1996A>G (p.Thr666Ala) c.1204A>G (p.Thr402Ala) n.2449A>G | dbSNP |
8 | g.38414162T>G | CA370728381 | FGFR1 | c.2176A>C (p.Thr726Pro) c.2164A>C (p.Thr722Pro) n.3069A>C n.1416A>C n.866A>C c.2356A>C (p.Thr786Pro) n.2864A>C c.1897A>C (p.Thr633Pro) c.*1822A>C (n.*1822A>C) c.*2143A>C (n.*2143A>C) n.3670A>C c.1903A>C (p.Thr635Pro) c.2146A>C (p.Thr716Pro) c.*1226A>C (n.*1226A>C) c.1909A>C (p.Thr637Pro) c.2170A>C (p.Thr724Pro) c.2269A>C (p.Thr757Pro) n.4455A>C c.376A>C (p.Thr126Pro) c.*1071A>C (n.*1071A>C) c.2152A>C (p.Thr718Pro) c.2275A>C (p.Thr759Pro) c.2008A>C (p.Thr670Pro) c.2002A>C (p.Thr668Pro) c.1885A>C (p.Thr629Pro) c.2263A>C (p.Thr755Pro) c.1996A>C (p.Thr666Pro) c.1204A>C (p.Thr402Pro) n.2449A>C | dbSNP |
8 | g.38414162T= | CA1777533761 | FGFR1 | c.2176A= (p.Thr726=) c.2164A= (p.Thr722=) n.3069A= n.1416A= n.866A= c.2356A= (p.Thr786=) n.2864A= c.1897A= (p.Thr633=) c.*1822A= (n.*1822A=) c.*2143A= (n.*2143A=) n.3670A= c.1903A= (p.Thr635=) c.2146A= (p.Thr716=) c.*1226A= (n.*1226A=) c.1909A= (p.Thr637=) c.2170A= (p.Thr724=) c.2269A= (p.Thr757=) n.4455A= c.376A= (p.Thr126=) c.*1071A= (n.*1071A=) c.2152A= (p.Thr718=) c.2275A= (p.Thr759=) c.2008A= (p.Thr670=) c.2002A= (p.Thr668=) c.1885A= (p.Thr629=) c.2263A= (p.Thr755=) c.1996A= (p.Thr666=) c.1204A= (p.Thr402=) n.2449A= | |
8 | g.38414163G>A | CA460499250 | FGFR1 | c.2175C>T (p.Cys725=) c.2163C>T (p.Cys721=) n.3068C>T n.1415C>T n.865C>T c.2355C>T (p.Cys785=) n.2863C>T c.1896C>T (p.Cys632=) c.*1821C>T (n.*1821C>T) c.*2142C>T (n.*2142C>T) n.3669C>T c.1902C>T (p.Cys634=) c.2145C>T (p.Cys715=) c.*1225C>T (n.*1225C>T) c.1908C>T (p.Cys636=) c.2169C>T (p.Cys723=) c.2268C>T (p.Cys756=) n.4454C>T c.375C>T (p.Cys125=) c.*1070C>T (n.*1070C>T) c.2151C>T (p.Cys717=) c.2274C>T (p.Cys758=) c.2007C>T (p.Cys669=) c.2001C>T (p.Cys667=) c.1884C>T (p.Cys628=) c.2262C>T (p.Cys754=) c.1995C>T (p.Cys665=) c.1203C>T (p.Cys401=) n.2448C>T | dbSNP |
8 | g.38414163G>C | CA370728386 | FGFR1 | c.2175C>G (p.Cys725Trp) c.2163C>G (p.Cys721Trp) n.3068C>G n.1415C>G n.865C>G c.2355C>G (p.Cys785Trp) n.2863C>G c.1896C>G (p.Cys632Trp) c.*1821C>G (n.*1821C>G) c.*2142C>G (n.*2142C>G) n.3669C>G c.1902C>G (p.Cys634Trp) c.2145C>G (p.Cys715Trp) c.*1225C>G (n.*1225C>G) c.1908C>G (p.Cys636Trp) c.2169C>G (p.Cys723Trp) c.2268C>G (p.Cys756Trp) n.4454C>G c.375C>G (p.Cys125Trp) c.*1070C>G (n.*1070C>G) c.2151C>G (p.Cys717Trp) c.2274C>G (p.Cys758Trp) c.2007C>G (p.Cys669Trp) c.2001C>G (p.Cys667Trp) c.1884C>G (p.Cys628Trp) c.2262C>G (p.Cys754Trp) c.1995C>G (p.Cys665Trp) c.1203C>G (p.Cys401Trp) n.2448C>G | dbSNP |
8 | g.38414163G>T | CA370728388 | FGFR1 | c.2175C>A (p.Cys725Ter) c.2163C>A (p.Cys721Ter) n.3068C>A n.1415C>A n.865C>A c.2355C>A (p.Cys785Ter) n.2863C>A c.1896C>A (p.Cys632Ter) c.*1821C>A (n.*1821C>A) c.*2142C>A (n.*2142C>A) n.3669C>A c.1902C>A (p.Cys634Ter) c.2145C>A (p.Cys715Ter) c.*1225C>A (n.*1225C>A) c.1908C>A (p.Cys636Ter) c.2169C>A (p.Cys723Ter) c.2268C>A (p.Cys756Ter) n.4454C>A c.375C>A (p.Cys125Ter) c.*1070C>A (n.*1070C>A) c.2151C>A (p.Cys717Ter) c.2274C>A (p.Cys758Ter) c.2007C>A (p.Cys669Ter) c.2001C>A (p.Cys667Ter) c.1884C>A (p.Cys628Ter) c.2262C>A (p.Cys754Ter) c.1995C>A (p.Cys665Ter) c.1203C>A (p.Cys401Ter) n.2448C>A | |
8 | g.38414164C>A | CA370728390 | FGFR1 | c.2174G>T (p.Cys725Phe) c.2162G>T (p.Cys721Phe) n.3067G>T n.1414G>T n.864G>T c.2354G>T (p.Cys785Phe) n.2862G>T c.1895G>T (p.Cys632Phe) c.*1820G>T (n.*1820G>T) c.*2141G>T (n.*2141G>T) n.3668G>T c.1901G>T (p.Cys634Phe) c.2144G>T (p.Cys715Phe) c.*1224G>T (n.*1224G>T) c.1907G>T (p.Cys636Phe) c.2168G>T (p.Cys723Phe) c.2267G>T (p.Cys756Phe) n.4453G>T c.374G>T (p.Cys125Phe) c.*1069G>T (n.*1069G>T) c.2150G>T (p.Cys717Phe) c.2273G>T (p.Cys758Phe) c.2006G>T (p.Cys669Phe) c.2000G>T (p.Cys667Phe) c.1883G>T (p.Cys628Phe) c.2261G>T (p.Cys754Phe) c.1994G>T (p.Cys665Phe) c.1202G>T (p.Cys401Phe) n.2447G>T | dbSNP |
8 | g.38414164C= | CA1777533765 | FGFR1 | c.2174G= (p.Cys725=) c.2162G= (p.Cys721=) n.3067G= n.1414G= n.864G= c.2354G= (p.Cys785=) n.2862G= c.1895G= (p.Cys632=) c.*1820G= (n.*1820G=) c.*2141G= (n.*2141G=) n.3668G= c.1901G= (p.Cys634=) c.2144G= (p.Cys715=) c.*1224G= (n.*1224G=) c.1907G= (p.Cys636=) c.2168G= (p.Cys723=) c.2267G= (p.Cys756=) n.4453G= c.374G= (p.Cys125=) c.*1069G= (n.*1069G=) c.2150G= (p.Cys717=) c.2273G= (p.Cys758=) c.2006G= (p.Cys669=) c.2000G= (p.Cys667=) c.1883G= (p.Cys628=) c.2261G= (p.Cys754=) c.1994G= (p.Cys665=) c.1202G= (p.Cys401=) n.2447G= | |
8 | g.38414164C>G | CA370728392 | FGFR1 | c.2174G>C (p.Cys725Ser) c.2162G>C (p.Cys721Ser) n.3067G>C n.1414G>C n.864G>C c.2354G>C (p.Cys785Ser) n.2862G>C c.1895G>C (p.Cys632Ser) c.*1820G>C (n.*1820G>C) c.*2141G>C (n.*2141G>C) n.3668G>C c.1901G>C (p.Cys634Ser) c.2144G>C (p.Cys715Ser) c.*1224G>C (n.*1224G>C) c.1907G>C (p.Cys636Ser) c.2168G>C (p.Cys723Ser) c.2267G>C (p.Cys756Ser) n.4453G>C c.374G>C (p.Cys125Ser) c.*1069G>C (n.*1069G>C) c.2150G>C (p.Cys717Ser) c.2273G>C (p.Cys758Ser) c.2006G>C (p.Cys669Ser) c.2000G>C (p.Cys667Ser) c.1883G>C (p.Cys628Ser) c.2261G>C (p.Cys754Ser) c.1994G>C (p.Cys665Ser) c.1202G>C (p.Cys401Ser) n.2447G>C | dbSNP |
8 | g.38414164C>T | CA280341 | FGFR1 | c.2174G>A (p.Cys725Tyr) c.2162G>A (p.Cys721Tyr) n.3067G>A n.1414G>A n.864G>A c.2354G>A (p.Cys785Tyr) n.2862G>A c.1895G>A (p.Cys632Tyr) c.*1820G>A (n.*1820G>A) c.*2141G>A (n.*2141G>A) n.3668G>A c.1901G>A (p.Cys634Tyr) c.2144G>A (p.Cys715Tyr) c.*1224G>A (n.*1224G>A) c.1907G>A (p.Cys636Tyr) c.2168G>A (p.Cys723Tyr) c.2267G>A (p.Cys756Tyr) n.4453G>A c.374G>A (p.Cys125Tyr) c.*1069G>A (n.*1069G>A) c.2150G>A (p.Cys717Tyr) c.2273G>A (p.Cys758Tyr) c.2006G>A (p.Cys669Tyr) c.2000G>A (p.Cys667Tyr) c.1883G>A (p.Cys628Tyr) c.2261G>A (p.Cys754Tyr) c.1994G>A (p.Cys665Tyr) c.1202G>A (p.Cys401Tyr) n.2447G>A | ClinVar dbSNP |
8 | g.38414165A>C | CA370728397 | FGFR1 | c.2173T>G (p.Cys725Gly) c.2161T>G (p.Cys721Gly) n.3066T>G n.1413T>G n.863T>G c.2353T>G (p.Cys785Gly) n.2861T>G c.1894T>G (p.Cys632Gly) c.*1819T>G (n.*1819T>G) c.*2140T>G (n.*2140T>G) n.3667T>G c.1900T>G (p.Cys634Gly) c.2143T>G (p.Cys715Gly) c.*1223T>G (n.*1223T>G) c.1906T>G (p.Cys636Gly) c.2167T>G (p.Cys723Gly) c.2266T>G (p.Cys756Gly) n.4452T>G c.373T>G (p.Cys125Gly) c.*1068T>G (n.*1068T>G) c.2149T>G (p.Cys717Gly) c.2272T>G (p.Cys758Gly) c.2005T>G (p.Cys669Gly) c.1999T>G (p.Cys667Gly) c.1882T>G (p.Cys628Gly) c.2260T>G (p.Cys754Gly) c.1993T>G (p.Cys665Gly) c.1201T>G (p.Cys401Gly) n.2446T>G | |
8 | g.38414165A>G | CA370728399 | FGFR1 | c.2173T>C (p.Cys725Arg) c.2161T>C (p.Cys721Arg) n.3066T>C n.1413T>C n.863T>C c.2353T>C (p.Cys785Arg) n.2861T>C c.1894T>C (p.Cys632Arg) c.*1819T>C (n.*1819T>C) c.*2140T>C (n.*2140T>C) n.3667T>C c.1900T>C (p.Cys634Arg) c.2143T>C (p.Cys715Arg) c.*1223T>C (n.*1223T>C) c.1906T>C (p.Cys636Arg) c.2167T>C (p.Cys723Arg) c.2266T>C (p.Cys756Arg) n.4452T>C c.373T>C (p.Cys125Arg) c.*1068T>C (n.*1068T>C) c.2149T>C (p.Cys717Arg) c.2272T>C (p.Cys758Arg) c.2005T>C (p.Cys669Arg) c.1999T>C (p.Cys667Arg) c.1882T>C (p.Cys628Arg) c.2260T>C (p.Cys754Arg) c.1993T>C (p.Cys665Arg) c.1201T>C (p.Cys401Arg) n.2446T>C | dbSNP |
8 | g.38414165A>T | CA370728400 | FGFR1 | c.2173T>A (p.Cys725Ser) c.2161T>A (p.Cys721Ser) n.3066T>A n.1413T>A n.863T>A c.2353T>A (p.Cys785Ser) n.2861T>A c.1894T>A (p.Cys632Ser) c.*1819T>A (n.*1819T>A) c.*2140T>A (n.*2140T>A) n.3667T>A c.1900T>A (p.Cys634Ser) c.2143T>A (p.Cys715Ser) c.*1223T>A (n.*1223T>A) c.1906T>A (p.Cys636Ser) c.2167T>A (p.Cys723Ser) c.2266T>A (p.Cys756Ser) n.4452T>A c.373T>A (p.Cys125Ser) c.*1068T>A (n.*1068T>A) c.2149T>A (p.Cys717Ser) c.2272T>A (p.Cys758Ser) c.2005T>A (p.Cys669Ser) c.1999T>A (p.Cys667Ser) c.1882T>A (p.Cys628Ser) c.2260T>A (p.Cys754Ser) c.1993T>A (p.Cys665Ser) c.1201T>A (p.Cys401Ser) n.2446T>A | dbSNP |
8 | g.38414166G>A | CA4718166 | FGFR1 | c.2172C>T (p.Asn724=) c.2160C>T (p.Asn720=) n.3065C>T n.1412C>T n.862C>T c.2352C>T (p.Asn784=) n.2860C>T c.1893C>T (p.Asn631=) c.*1818C>T (n.*1818C>T) c.*2139C>T (n.*2139C>T) n.3666C>T c.1899C>T (p.Asn633=) c.2142C>T (p.Asn714=) c.*1222C>T (n.*1222C>T) c.1905C>T (p.Asn635=) c.2166C>T (p.Asn722=) c.2265C>T (p.Asn755=) n.4451C>T c.372C>T (p.Asn124=) c.*1067C>T (n.*1067C>T) c.2148C>T (p.Asn716=) c.2271C>T (p.Asn757=) c.2004C>T (p.Asn668=) c.1998C>T (p.Asn666=) c.1881C>T (p.Asn627=) c.2259C>T (p.Asn753=) c.1992C>T (p.Asn664=) c.1200C>T (p.Asn400=) n.2445C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38414166G>C | CA045386 | FGFR1 | c.2172C>G (p.Asn724Lys) c.2160C>G (p.Asn720Lys) n.3065C>G n.1412C>G n.862C>G c.2352C>G (p.Asn784Lys) n.2860C>G c.1893C>G (p.Asn631Lys) c.*1818C>G (n.*1818C>G) c.*2139C>G (n.*2139C>G) n.3666C>G c.1899C>G (p.Asn633Lys) c.2142C>G (p.Asn714Lys) c.*1222C>G (n.*1222C>G) c.1905C>G (p.Asn635Lys) c.2166C>G (p.Asn722Lys) c.2265C>G (p.Asn755Lys) n.4451C>G c.372C>G (p.Asn124Lys) c.*1067C>G (n.*1067C>G) c.2148C>G (p.Asn716Lys) c.2271C>G (p.Asn757Lys) c.2004C>G (p.Asn668Lys) c.1998C>G (p.Asn666Lys) c.1881C>G (p.Asn627Lys) c.2259C>G (p.Asn753Lys) c.1992C>G (p.Asn664Lys) c.1200C>G (p.Asn400Lys) n.2445C>G | ClinVar dbSNP |
8 | g.[38414166G>C;38414173G>T] | CA045397 | FGFR1 | c.[2165C>A;2172C>G] (p.[Pro722His;Asn724Lys]) c.[2153C>A;2160C>G] (p.[Pro718His;Asn720Lys]) n.[3058C>A;3065C>G] n.[1405C>A;1412C>G] n.[855C>A;862C>G] c.[2345C>A;2352C>G] (p.[Pro782His;Asn784Lys]) n.[2853C>A;2860C>G] c.[1886C>A;1893C>G] (p.[Pro629His;Asn631Lys]) c.[*1811C>A;*1818C>G] (n.[*1811C>A;*1818C>G]) c.[*2132C>A;*2139C>G] (n.[*2132C>A;*2139C>G]) n.[3659C>A;3666C>G] c.[1892C>A;1899C>G] (p.[Pro631His;Asn633Lys]) c.[2135C>A;2142C>G] (p.[Pro712His;Asn714Lys]) c.[*1215C>A;*1222C>G] (n.[*1215C>A;*1222C>G]) c.[1898C>A;1905C>G] (p.[Pro633His;Asn635Lys]) c.[2159C>A;2166C>G] (p.[Pro720His;Asn722Lys]) c.[2258C>A;2265C>G] (p.[Pro753His;Asn755Lys]) n.[4444C>A;4451C>G] c.[365C>A;372C>G] (p.[Pro122His;Asn124Lys]) c.[*1060C>A;*1067C>G] (n.[*1060C>A;*1067C>G]) c.[2141C>A;2148C>G] (p.[Pro714His;Asn716Lys]) c.[2264C>A;2271C>G] (p.[Pro755His;Asn757Lys]) c.[1997C>A;2004C>G] (p.[Pro666His;Asn668Lys]) c.[1991C>A;1998C>G] (p.[Pro664His;Asn666Lys]) c.[1874C>A;1881C>G] (p.[Pro625His;Asn627Lys]) c.[2252C>A;2259C>G] (p.[Pro751His;Asn753Lys]) c.[1985C>A;1992C>G] (p.[Pro662His;Asn664Lys]) c.[1193C>A;1200C>G] (p.[Pro398His;Asn400Lys]) n.[2438C>A;2445C>G] | |
8 | g.38414166G= | CA1777533776 | FGFR1 | c.2172C= (p.Asn724=) c.2160C= (p.Asn720=) n.3065C= n.1412C= n.862C= c.2352C= (p.Asn784=) n.2860C= c.1893C= (p.Asn631=) c.*1818C= (n.*1818C=) c.*2139C= (n.*2139C=) n.3666C= c.1899C= (p.Asn633=) c.2142C= (p.Asn714=) c.*1222C= (n.*1222C=) c.1905C= (p.Asn635=) c.2166C= (p.Asn722=) c.2265C= (p.Asn755=) n.4451C= c.372C= (p.Asn124=) c.*1067C= (n.*1067C=) c.2148C= (p.Asn716=) c.2271C= (p.Asn757=) c.2004C= (p.Asn668=) c.1998C= (p.Asn666=) c.1881C= (p.Asn627=) c.2259C= (p.Asn753=) c.1992C= (p.Asn664=) c.1200C= (p.Asn400=) n.2445C= | |
8 | g.38414166G>T | CA370728406 | FGFR1 | c.2172C>A (p.Asn724Lys) c.2160C>A (p.Asn720Lys) n.3065C>A n.1412C>A n.862C>A c.2352C>A (p.Asn784Lys) n.2860C>A c.1893C>A (p.Asn631Lys) c.*1818C>A (n.*1818C>A) c.*2139C>A (n.*2139C>A) n.3666C>A c.1899C>A (p.Asn633Lys) c.2142C>A (p.Asn714Lys) c.*1222C>A (n.*1222C>A) c.1905C>A (p.Asn635Lys) c.2166C>A (p.Asn722Lys) c.2265C>A (p.Asn755Lys) n.4451C>A c.372C>A (p.Asn124Lys) c.*1067C>A (n.*1067C>A) c.2148C>A (p.Asn716Lys) c.2271C>A (p.Asn757Lys) c.2004C>A (p.Asn668Lys) c.1998C>A (p.Asn666Lys) c.1881C>A (p.Asn627Lys) c.2259C>A (p.Asn753Lys) c.1992C>A (p.Asn664Lys) c.1200C>A (p.Asn400Lys) n.2445C>A | |
8 | g.38414166_38414173delinsCTTACTGT | CA2695209136 | FGFR1 | c.2165_2172delinsACAGTAAG (p.Pro722_Asn724delinsHisSerLys) c.2153_2160delinsACAGTAAG (p.Pro718_Asn720delinsHisSerLys) n.3058_3065delinsACAGTAAG n.1405_1412delinsACAGTAAG n.855_862delinsACAGTAAG c.2345_2352delinsACAGTAAG (p.Pro782_Asn784delinsHisSerLys) n.2853_2860delinsACAGTAAG c.1886_1893delinsACAGTAAG (p.Pro629_Asn631delinsHisSerLys) c.*1811_*1818delinsACAGTAAG (n.*1811_*1818delinsACAGTAAG) c.*2132_*2139delinsACAGTAAG (n.*2132_*2139delinsACAGTAAG) n.3659_3666delinsACAGTAAG c.1892_1899delinsACAGTAAG (p.Pro631_Asn633delinsHisSerLys) c.2135_2142delinsACAGTAAG (p.Pro712_Asn714delinsHisSerLys) c.*1215_*1222delinsACAGTAAG (n.*1215_*1222delinsACAGTAAG) c.1898_1905delinsACAGTAAG (p.Pro633_Asn635delinsHisSerLys) c.2159_2166delinsACAGTAAG (p.Pro720_Asn722delinsHisSerLys) c.2258_2265delinsACAGTAAG (p.Pro753_Asn755delinsHisSerLys) n.4444_4451delinsACAGTAAG c.365_372delinsACAGTAAG (p.Pro122_Asn124delinsHisSerLys) c.*1060_*1067delinsACAGTAAG (n.*1060_*1067delinsACAGTAAG) c.2141_2148delinsACAGTAAG (p.Pro714_Asn716delinsHisSerLys) c.2264_2271delinsACAGTAAG (p.Pro755_Asn757delinsHisSerLys) c.1997_2004delinsACAGTAAG (p.Pro666_Asn668delinsHisSerLys) c.1991_1998delinsACAGTAAG (p.Pro664_Asn666delinsHisSerLys) c.1874_1881delinsACAGTAAG (p.Pro625_Asn627delinsHisSerLys) c.2252_2259delinsACAGTAAG (p.Pro751_Asn753delinsHisSerLys) c.1985_1992delinsACAGTAAG (p.Pro662_Asn664delinsHisSerLys) c.1193_1200delinsACAGTAAG (p.Pro398_Asn400delinsHisSerLys) n.2438_2445delinsACAGTAAG | |
8 | g.38414167T>A | CA370728410 | FGFR1 | c.2171A>T (p.Asn724Ile) c.2159A>T (p.Asn720Ile) n.3064A>T n.1411A>T n.861A>T c.2351A>T (p.Asn784Ile) n.2859A>T c.1892A>T (p.Asn631Ile) c.*1817A>T (n.*1817A>T) c.*2138A>T (n.*2138A>T) n.3665A>T c.1898A>T (p.Asn633Ile) c.2141A>T (p.Asn714Ile) c.*1221A>T (n.*1221A>T) c.1904A>T (p.Asn635Ile) c.2165A>T (p.Asn722Ile) c.2264A>T (p.Asn755Ile) n.4450A>T c.371A>T (p.Asn124Ile) c.*1066A>T (n.*1066A>T) c.2147A>T (p.Asn716Ile) c.2270A>T (p.Asn757Ile) c.2003A>T (p.Asn668Ile) c.1997A>T (p.Asn666Ile) c.1880A>T (p.Asn627Ile) c.2258A>T (p.Asn753Ile) c.1991A>T (p.Asn664Ile) c.1199A>T (p.Asn400Ile) n.2444A>T | dbSNP |
8 | g.38414167T>C | CA370728407 | FGFR1 | c.2171A>G (p.Asn724Ser) c.2159A>G (p.Asn720Ser) n.3064A>G n.1411A>G n.861A>G c.2351A>G (p.Asn784Ser) n.2859A>G c.1892A>G (p.Asn631Ser) c.*1817A>G (n.*1817A>G) c.*2138A>G (n.*2138A>G) n.3665A>G c.1898A>G (p.Asn633Ser) c.2141A>G (p.Asn714Ser) c.*1221A>G (n.*1221A>G) c.1904A>G (p.Asn635Ser) c.2165A>G (p.Asn722Ser) c.2264A>G (p.Asn755Ser) n.4450A>G c.371A>G (p.Asn124Ser) c.*1066A>G (n.*1066A>G) c.2147A>G (p.Asn716Ser) c.2270A>G (p.Asn757Ser) c.2003A>G (p.Asn668Ser) c.1997A>G (p.Asn666Ser) c.1880A>G (p.Asn627Ser) c.2258A>G (p.Asn753Ser) c.1991A>G (p.Asn664Ser) c.1199A>G (p.Asn400Ser) n.2444A>G | |
8 | g.38414167T>G | CA370728408 | FGFR1 | c.2171A>C (p.Asn724Thr) c.2159A>C (p.Asn720Thr) n.3064A>C n.1411A>C n.861A>C c.2351A>C (p.Asn784Thr) n.2859A>C c.1892A>C (p.Asn631Thr) c.*1817A>C (n.*1817A>C) c.*2138A>C (n.*2138A>C) n.3665A>C c.1898A>C (p.Asn633Thr) c.2141A>C (p.Asn714Thr) c.*1221A>C (n.*1221A>C) c.1904A>C (p.Asn635Thr) c.2165A>C (p.Asn722Thr) c.2264A>C (p.Asn755Thr) n.4450A>C c.371A>C (p.Asn124Thr) c.*1066A>C (n.*1066A>C) c.2147A>C (p.Asn716Thr) c.2270A>C (p.Asn757Thr) c.2003A>C (p.Asn668Thr) c.1997A>C (p.Asn666Thr) c.1880A>C (p.Asn627Thr) c.2258A>C (p.Asn753Thr) c.1991A>C (p.Asn664Thr) c.1199A>C (p.Asn400Thr) n.2444A>C | dbSNP |
8 | g.38414168T>A | CA370728413 | FGFR1 | c.2170A>T (p.Asn724Tyr) c.2158A>T (p.Asn720Tyr) n.3063A>T n.1410A>T n.860A>T c.2350A>T (p.Asn784Tyr) n.2858A>T c.1891A>T (p.Asn631Tyr) c.*1816A>T (n.*1816A>T) c.*2137A>T (n.*2137A>T) n.3664A>T c.1897A>T (p.Asn633Tyr) c.2140A>T (p.Asn714Tyr) c.*1220A>T (n.*1220A>T) c.1903A>T (p.Asn635Tyr) c.2164A>T (p.Asn722Tyr) c.2263A>T (p.Asn755Tyr) n.4449A>T c.370A>T (p.Asn124Tyr) c.*1065A>T (n.*1065A>T) c.2146A>T (p.Asn716Tyr) c.2269A>T (p.Asn757Tyr) c.2002A>T (p.Asn668Tyr) c.1996A>T (p.Asn666Tyr) c.1879A>T (p.Asn627Tyr) c.2257A>T (p.Asn753Tyr) c.1990A>T (p.Asn664Tyr) c.1198A>T (p.Asn400Tyr) n.2443A>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.38414168T>C | CA370728417 | FGFR1 | c.2170A>G (p.Asn724Asp) c.2158A>G (p.Asn720Asp) n.3063A>G n.1410A>G n.860A>G c.2350A>G (p.Asn784Asp) n.2858A>G c.1891A>G (p.Asn631Asp) c.*1816A>G (n.*1816A>G) c.*2137A>G (n.*2137A>G) n.3664A>G c.1897A>G (p.Asn633Asp) c.2140A>G (p.Asn714Asp) c.*1220A>G (n.*1220A>G) c.1903A>G (p.Asn635Asp) c.2164A>G (p.Asn722Asp) c.2263A>G (p.Asn755Asp) n.4449A>G c.370A>G (p.Asn124Asp) c.*1065A>G (n.*1065A>G) c.2146A>G (p.Asn716Asp) c.2269A>G (p.Asn757Asp) c.2002A>G (p.Asn668Asp) c.1996A>G (p.Asn666Asp) c.1879A>G (p.Asn627Asp) c.2257A>G (p.Asn753Asp) c.1990A>G (p.Asn664Asp) c.1198A>G (p.Asn400Asp) n.2443A>G | gnomAD v4 |
8 | g.38414168T>G | CA370728419 | FGFR1 | c.2170A>C (p.Asn724His) c.2158A>C (p.Asn720His) n.3063A>C n.1410A>C n.860A>C c.2350A>C (p.Asn784His) n.2858A>C c.1891A>C (p.Asn631His) c.*1816A>C (n.*1816A>C) c.*2137A>C (n.*2137A>C) n.3664A>C c.1897A>C (p.Asn633His) c.2140A>C (p.Asn714His) c.*1220A>C (n.*1220A>C) c.1903A>C (p.Asn635His) c.2164A>C (p.Asn722His) c.2263A>C (p.Asn755His) n.4449A>C c.370A>C (p.Asn124His) c.*1065A>C (n.*1065A>C) c.2146A>C (p.Asn716His) c.2269A>C (p.Asn757His) c.2002A>C (p.Asn668His) c.1996A>C (p.Asn666His) c.1879A>C (p.Asn627His) c.2257A>C (p.Asn753His) c.1990A>C (p.Asn664His) c.1198A>C (p.Asn400His) n.2443A>C | dbSNP |
8 | g.38414168T= | CA1777533779 | FGFR1 | c.2170A= (p.Asn724=) c.2158A= (p.Asn720=) n.3063A= n.1410A= n.860A= c.2350A= (p.Asn784=) n.2858A= c.1891A= (p.Asn631=) c.*1816A= (n.*1816A=) c.*2137A= (n.*2137A=) n.3664A= c.1897A= (p.Asn633=) c.2140A= (p.Asn714=) c.*1220A= (n.*1220A=) c.1903A= (p.Asn635=) c.2164A= (p.Asn722=) c.2263A= (p.Asn755=) n.4449A= c.370A= (p.Asn124=) c.*1065A= (n.*1065A=) c.2146A= (p.Asn716=) c.2269A= (p.Asn757=) c.2002A= (p.Asn668=) c.1996A= (p.Asn666=) c.1879A= (p.Asn627=) c.2257A= (p.Asn753=) c.1990A= (p.Asn664=) c.1198A= (p.Asn400=) n.2443A= | |
8 | g.38414169A>C | CA370728421 | FGFR1 | c.2169T>G (p.Ser723Arg) c.2157T>G (p.Ser719Arg) n.3062T>G n.1409T>G n.859T>G c.2349T>G (p.Ser783Arg) n.2857T>G c.1890T>G (p.Ser630Arg) c.*1815T>G (n.*1815T>G) c.*2136T>G (n.*2136T>G) n.3663T>G c.1896T>G (p.Ser632Arg) c.2139T>G (p.Ser713Arg) c.*1219T>G (n.*1219T>G) c.1902T>G (p.Ser634Arg) c.2163T>G (p.Ser721Arg) c.2262T>G (p.Ser754Arg) n.4448T>G c.369T>G (p.Ser123Arg) c.*1064T>G (n.*1064T>G) c.2145T>G (p.Ser715Arg) c.2268T>G (p.Ser756Arg) c.2001T>G (p.Ser667Arg) c.1995T>G (p.Ser665Arg) c.1878T>G (p.Ser626Arg) c.2256T>G (p.Ser752Arg) c.1989T>G (p.Ser663Arg) c.1197T>G (p.Ser399Arg) n.2442T>G | dbSNP |
8 | g.38414169A>G | CA460499262 | FGFR1 | c.2169T>C (p.Ser723=) c.2157T>C (p.Ser719=) n.3062T>C n.1409T>C n.859T>C c.2349T>C (p.Ser783=) n.2857T>C c.1890T>C (p.Ser630=) c.*1815T>C (n.*1815T>C) c.*2136T>C (n.*2136T>C) n.3663T>C c.1896T>C (p.Ser632=) c.2139T>C (p.Ser713=) c.*1219T>C (n.*1219T>C) c.1902T>C (p.Ser634=) c.2163T>C (p.Ser721=) c.2262T>C (p.Ser754=) n.4448T>C c.369T>C (p.Ser123=) c.*1064T>C (n.*1064T>C) c.2145T>C (p.Ser715=) c.2268T>C (p.Ser756=) c.2001T>C (p.Ser667=) c.1995T>C (p.Ser665=) c.1878T>C (p.Ser626=) c.2256T>C (p.Ser752=) c.1989T>C (p.Ser663=) c.1197T>C (p.Ser399=) n.2442T>C | |
8 | g.38414169A>T | CA370728423 | FGFR1 | c.2169T>A (p.Ser723Arg) c.2157T>A (p.Ser719Arg) n.3062T>A n.1409T>A n.859T>A c.2349T>A (p.Ser783Arg) n.2857T>A c.1890T>A (p.Ser630Arg) c.*1815T>A (n.*1815T>A) c.*2136T>A (n.*2136T>A) n.3663T>A c.1896T>A (p.Ser632Arg) c.2139T>A (p.Ser713Arg) c.*1219T>A (n.*1219T>A) c.1902T>A (p.Ser634Arg) c.2163T>A (p.Ser721Arg) c.2262T>A (p.Ser754Arg) n.4448T>A c.369T>A (p.Ser123Arg) c.*1064T>A (n.*1064T>A) c.2145T>A (p.Ser715Arg) c.2268T>A (p.Ser756Arg) c.2001T>A (p.Ser667Arg) c.1995T>A (p.Ser665Arg) c.1878T>A (p.Ser626Arg) c.2256T>A (p.Ser752Arg) c.1989T>A (p.Ser663Arg) c.1197T>A (p.Ser399Arg) n.2442T>A | dbSNP |
8 | g.38414170C>A | CA370728427 | FGFR1 | c.2168G>T (p.Ser723Ile) c.2156G>T (p.Ser719Ile) n.3061G>T n.1408G>T n.858G>T c.2348G>T (p.Ser783Ile) n.2856G>T c.1889G>T (p.Ser630Ile) c.*1814G>T (n.*1814G>T) c.*2135G>T (n.*2135G>T) n.3662G>T c.1895G>T (p.Ser632Ile) c.2138G>T (p.Ser713Ile) c.*1218G>T (n.*1218G>T) c.1901G>T (p.Ser634Ile) c.2162G>T (p.Ser721Ile) c.2261G>T (p.Ser754Ile) n.4447G>T c.368G>T (p.Ser123Ile) c.*1063G>T (n.*1063G>T) c.2144G>T (p.Ser715Ile) c.2267G>T (p.Ser756Ile) c.2000G>T (p.Ser667Ile) c.1994G>T (p.Ser665Ile) c.1877G>T (p.Ser626Ile) c.2255G>T (p.Ser752Ile) c.1988G>T (p.Ser663Ile) c.1196G>T (p.Ser399Ile) n.2441G>T | |
8 | g.38414170C= | CA1777533782 | FGFR1 | c.2168G= (p.Ser723=) c.2156G= (p.Ser719=) n.3061G= n.1408G= n.858G= c.2348G= (p.Ser783=) n.2856G= c.1889G= (p.Ser630=) c.*1814G= (n.*1814G=) c.*2135G= (n.*2135G=) n.3662G= c.1895G= (p.Ser632=) c.2138G= (p.Ser713=) c.*1218G= (n.*1218G=) c.1901G= (p.Ser634=) c.2162G= (p.Ser721=) c.2261G= (p.Ser754=) n.4447G= c.368G= (p.Ser123=) c.*1063G= (n.*1063G=) c.2144G= (p.Ser715=) c.2267G= (p.Ser756=) c.2000G= (p.Ser667=) c.1994G= (p.Ser665=) c.1877G= (p.Ser626=) c.2255G= (p.Ser752=) c.1988G= (p.Ser663=) c.1196G= (p.Ser399=) n.2441G= | |
8 | g.38414170C>G | CA370728428 | FGFR1 | c.2168G>C (p.Ser723Thr) c.2156G>C (p.Ser719Thr) n.3061G>C n.1408G>C n.858G>C c.2348G>C (p.Ser783Thr) n.2856G>C c.1889G>C (p.Ser630Thr) c.*1814G>C (n.*1814G>C) c.*2135G>C (n.*2135G>C) n.3662G>C c.1895G>C (p.Ser632Thr) c.2138G>C (p.Ser713Thr) c.*1218G>C (n.*1218G>C) c.1901G>C (p.Ser634Thr) c.2162G>C (p.Ser721Thr) c.2261G>C (p.Ser754Thr) n.4447G>C c.368G>C (p.Ser123Thr) c.*1063G>C (n.*1063G>C) c.2144G>C (p.Ser715Thr) c.2267G>C (p.Ser756Thr) c.2000G>C (p.Ser667Thr) c.1994G>C (p.Ser665Thr) c.1877G>C (p.Ser626Thr) c.2255G>C (p.Ser752Thr) c.1988G>C (p.Ser663Thr) c.1196G>C (p.Ser399Thr) n.2441G>C | dbSNP |
8 | g.38414170C>T | CA4718167 | FGFR1 | c.2168G>A (p.Ser723Asn) c.2156G>A (p.Ser719Asn) n.3061G>A n.1408G>A n.858G>A c.2348G>A (p.Ser783Asn) n.2856G>A c.1889G>A (p.Ser630Asn) c.*1814G>A (n.*1814G>A) c.*2135G>A (n.*2135G>A) n.3662G>A c.1895G>A (p.Ser632Asn) c.2138G>A (p.Ser713Asn) c.*1218G>A (n.*1218G>A) c.1901G>A (p.Ser634Asn) c.2162G>A (p.Ser721Asn) c.2261G>A (p.Ser754Asn) n.4447G>A c.368G>A (p.Ser123Asn) c.*1063G>A (n.*1063G>A) c.2144G>A (p.Ser715Asn) c.2267G>A (p.Ser756Asn) c.2000G>A (p.Ser667Asn) c.1994G>A (p.Ser665Asn) c.1877G>A (p.Ser626Asn) c.2255G>A (p.Ser752Asn) c.1988G>A (p.Ser663Asn) c.1196G>A (p.Ser399Asn) n.2441G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.38414171T>A | CA370728432 | FGFR1 | c.2167A>T (p.Ser723Cys) c.2155A>T (p.Ser719Cys) n.3060A>T n.1407A>T n.857A>T c.2347A>T (p.Ser783Cys) n.2855A>T c.1888A>T (p.Ser630Cys) c.*1813A>T (n.*1813A>T) c.*2134A>T (n.*2134A>T) n.3661A>T c.1894A>T (p.Ser632Cys) c.2137A>T (p.Ser713Cys) c.*1217A>T (n.*1217A>T) c.1900A>T (p.Ser634Cys) c.2161A>T (p.Ser721Cys) c.2260A>T (p.Ser754Cys) n.4446A>T c.367A>T (p.Ser123Cys) c.*1062A>T (n.*1062A>T) c.2143A>T (p.Ser715Cys) c.2266A>T (p.Ser756Cys) c.1999A>T (p.Ser667Cys) c.1993A>T (p.Ser665Cys) c.1876A>T (p.Ser626Cys) c.2254A>T (p.Ser752Cys) c.1987A>T (p.Ser663Cys) c.1195A>T (p.Ser399Cys) n.2440A>T | |
8 | g.38414171T>C | CA370728434 | FGFR1 | c.2167A>G (p.Ser723Gly) c.2155A>G (p.Ser719Gly) n.3060A>G n.1407A>G n.857A>G c.2347A>G (p.Ser783Gly) n.2855A>G c.1888A>G (p.Ser630Gly) c.*1813A>G (n.*1813A>G) c.*2134A>G (n.*2134A>G) n.3661A>G c.1894A>G (p.Ser632Gly) c.2137A>G (p.Ser713Gly) c.*1217A>G (n.*1217A>G) c.1900A>G (p.Ser634Gly) c.2161A>G (p.Ser721Gly) c.2260A>G (p.Ser754Gly) n.4446A>G c.367A>G (p.Ser123Gly) c.*1062A>G (n.*1062A>G) c.2143A>G (p.Ser715Gly) c.2266A>G (p.Ser756Gly) c.1999A>G (p.Ser667Gly) c.1993A>G (p.Ser665Gly) c.1876A>G (p.Ser626Gly) c.2254A>G (p.Ser752Gly) c.1987A>G (p.Ser663Gly) c.1195A>G (p.Ser399Gly) n.2440A>G | |
8 | g.38414171T>G | CA370728436 | FGFR1 | c.2167A>C (p.Ser723Arg) c.2155A>C (p.Ser719Arg) n.3060A>C n.1407A>C n.857A>C c.2347A>C (p.Ser783Arg) n.2855A>C c.1888A>C (p.Ser630Arg) c.*1813A>C (n.*1813A>C) c.*2134A>C (n.*2134A>C) n.3661A>C c.1894A>C (p.Ser632Arg) c.2137A>C (p.Ser713Arg) c.*1217A>C (n.*1217A>C) c.1900A>C (p.Ser634Arg) c.2161A>C (p.Ser721Arg) c.2260A>C (p.Ser754Arg) n.4446A>C c.367A>C (p.Ser123Arg) c.*1062A>C (n.*1062A>C) c.2143A>C (p.Ser715Arg) c.2266A>C (p.Ser756Arg) c.1999A>C (p.Ser667Arg) c.1993A>C (p.Ser665Arg) c.1876A>C (p.Ser626Arg) c.2254A>C (p.Ser752Arg) c.1987A>C (p.Ser663Arg) c.1195A>C (p.Ser399Arg) n.2440A>C | |
8 | g.38414172G>A | CA460499269 | FGFR1 | c.2166C>T (p.Pro722=) c.2154C>T (p.Pro718=) n.3059C>T n.1406C>T n.856C>T c.2346C>T (p.Pro782=) n.2854C>T c.1887C>T (p.Pro629=) c.*1812C>T (n.*1812C>T) c.*2133C>T (n.*2133C>T) n.3660C>T c.1893C>T (p.Pro631=) c.2136C>T (p.Pro712=) c.*1216C>T (n.*1216C>T) c.1899C>T (p.Pro633=) c.2160C>T (p.Pro720=) c.2259C>T (p.Pro753=) n.4445C>T c.366C>T (p.Pro122=) c.*1061C>T (n.*1061C>T) c.2142C>T (p.Pro714=) c.2265C>T (p.Pro755=) c.1998C>T (p.Pro666=) c.1992C>T (p.Pro664=) c.1875C>T (p.Pro625=) c.2253C>T (p.Pro751=) c.1986C>T (p.Pro662=) c.1194C>T (p.Pro398=) n.2439C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
8 | g.38414172G>C | CA460499270 | FGFR1 | c.2166C>G (p.Pro722=) c.2154C>G (p.Pro718=) n.3059C>G n.1406C>G n.856C>G c.2346C>G (p.Pro782=) n.2854C>G c.1887C>G (p.Pro629=) c.*1812C>G (n.*1812C>G) c.*2133C>G (n.*2133C>G) n.3660C>G c.1893C>G (p.Pro631=) c.2136C>G (p.Pro712=) c.*1216C>G (n.*1216C>G) c.1899C>G (p.Pro633=) c.2160C>G (p.Pro720=) c.2259C>G (p.Pro753=) n.4445C>G c.366C>G (p.Pro122=) c.*1061C>G (n.*1061C>G) c.2142C>G (p.Pro714=) c.2265C>G (p.Pro755=) c.1998C>G (p.Pro666=) c.1992C>G (p.Pro664=) c.1875C>G (p.Pro625=) c.2253C>G (p.Pro751=) c.1986C>G (p.Pro662=) c.1194C>G (p.Pro398=) n.2439C>G | dbSNP |
8 | g.38414172G= | CA1777533785 | FGFR1 | c.2166C= (p.Pro722=) c.2154C= (p.Pro718=) n.3059C= n.1406C= n.856C= c.2346C= (p.Pro782=) n.2854C= c.1887C= (p.Pro629=) c.*1812C= (n.*1812C=) c.*2133C= (n.*2133C=) n.3660C= c.1893C= (p.Pro631=) c.2136C= (p.Pro712=) c.*1216C= (n.*1216C=) c.1899C= (p.Pro633=) c.2160C= (p.Pro720=) c.2259C= (p.Pro753=) n.4445C= c.366C= (p.Pro122=) c.*1061C= (n.*1061C=) c.2142C= (p.Pro714=) c.2265C= (p.Pro755=) c.1998C= (p.Pro666=) c.1992C= (p.Pro664=) c.1875C= (p.Pro625=) c.2253C= (p.Pro751=) c.1986C= (p.Pro662=) c.1194C= (p.Pro398=) n.2439C= | |
8 | g.38414172G>T | CA460499272 | FGFR1 | c.2166C>A (p.Pro722=) c.2154C>A (p.Pro718=) n.3059C>A n.1406C>A n.856C>A c.2346C>A (p.Pro782=) n.2854C>A c.1887C>A (p.Pro629=) c.*1812C>A (n.*1812C>A) c.*2133C>A (n.*2133C>A) n.3660C>A c.1893C>A (p.Pro631=) c.2136C>A (p.Pro712=) c.*1216C>A (n.*1216C>A) c.1899C>A (p.Pro633=) c.2160C>A (p.Pro720=) c.2259C>A (p.Pro753=) n.4445C>A c.366C>A (p.Pro122=) c.*1061C>A (n.*1061C>A) c.2142C>A (p.Pro714=) c.2265C>A (p.Pro755=) c.1998C>A (p.Pro666=) c.1992C>A (p.Pro664=) c.1875C>A (p.Pro625=) c.2253C>A (p.Pro751=) c.1986C>A (p.Pro662=) c.1194C>A (p.Pro398=) n.2439C>A | |
8 | g.38414174del | CA2838032167 | FGFR1 | c.2166del (p.Ser723ValfsTer9) c.2154del (p.Ser719ValfsTer9) n.3059del n.1406del n.856del c.2346del (p.Ser783ValfsTer9) n.2854del c.1887del (p.Ser630ValfsTer9) c.*1812del (n.*1812del) c.*2133del (n.*2133del) n.3660del c.1893del (p.Ser632ValfsTer9) c.2136del (p.Ser713ValfsTer9) c.*1216del (n.*1216del) c.1899del (p.Ser634ValfsTer9) c.2160del (p.Ser721ValfsTer9) c.2259del (p.Ser754ValfsTer9) n.4445del c.366del (p.Ser123ValfsTer?) c.*1061del (n.*1061del) c.2142del (p.Ser715ValfsTer9) c.2265del (p.Ser756ValfsTer9) c.1998del (p.Ser667ValfsTer9) c.1992del (p.Ser665ValfsTer9) c.1875del (p.Ser626ValfsTer9) c.2253del (p.Ser752ValfsTer9) c.1986del (p.Ser663ValfsTer9) c.1194del (p.Ser399ValfsTer9) n.2439del | |
8 | g.38414173G>A | CA370728438 | FGFR1 | c.2165C>T (p.Pro722Leu) c.2153C>T (p.Pro718Leu) n.3058C>T n.1405C>T n.855C>T c.2345C>T (p.Pro782Leu) n.2853C>T c.1886C>T (p.Pro629Leu) c.*1811C>T (n.*1811C>T) c.*2132C>T (n.*2132C>T) n.3659C>T c.1892C>T (p.Pro631Leu) c.2135C>T (p.Pro712Leu) c.*1215C>T (n.*1215C>T) c.1898C>T (p.Pro633Leu) c.2159C>T (p.Pro720Leu) c.2258C>T (p.Pro753Leu) n.4444C>T c.365C>T (p.Pro122Leu) c.*1060C>T (n.*1060C>T) c.2141C>T (p.Pro714Leu) c.2264C>T (p.Pro755Leu) c.1997C>T (p.Pro666Leu) c.1991C>T (p.Pro664Leu) c.1874C>T (p.Pro625Leu) c.2252C>T (p.Pro751Leu) c.1985C>T (p.Pro662Leu) c.1193C>T (p.Pro398Leu) n.2438C>T | dbSNP |
8 | g.38414173G>C | CA370728440 | FGFR1 | c.2165C>G (p.Pro722Arg) c.2153C>G (p.Pro718Arg) n.3058C>G n.1405C>G n.855C>G c.2345C>G (p.Pro782Arg) n.2853C>G c.1886C>G (p.Pro629Arg) c.*1811C>G (n.*1811C>G) c.*2132C>G (n.*2132C>G) n.3659C>G c.1892C>G (p.Pro631Arg) c.2135C>G (p.Pro712Arg) c.*1215C>G (n.*1215C>G) c.1898C>G (p.Pro633Arg) c.2159C>G (p.Pro720Arg) c.2258C>G (p.Pro753Arg) n.4444C>G c.365C>G (p.Pro122Arg) c.*1060C>G (n.*1060C>G) c.2141C>G (p.Pro714Arg) c.2264C>G (p.Pro755Arg) c.1997C>G (p.Pro666Arg) c.1991C>G (p.Pro664Arg) c.1874C>G (p.Pro625Arg) c.2252C>G (p.Pro751Arg) c.1985C>G (p.Pro662Arg) c.1193C>G (p.Pro398Arg) n.2438C>G | dbSNP |
8 | g.38414173G= | CA1777533788 | FGFR1 | c.2165C= (p.Pro722=) c.2153C= (p.Pro718=) n.3058C= n.1405C= n.855C= c.2345C= (p.Pro782=) n.2853C= c.1886C= (p.Pro629=) c.*1811C= (n.*1811C=) c.*2132C= (n.*2132C=) n.3659C= c.1892C= (p.Pro631=) c.2135C= (p.Pro712=) c.*1215C= (n.*1215C=) c.1898C= (p.Pro633=) c.2159C= (p.Pro720=) c.2258C= (p.Pro753=) n.4444C= c.365C= (p.Pro122=) c.*1060C= (n.*1060C=) c.2141C= (p.Pro714=) c.2264C= (p.Pro755=) c.1997C= (p.Pro666=) c.1991C= (p.Pro664=) c.1874C= (p.Pro625=) c.2252C= (p.Pro751=) c.1985C= (p.Pro662=) c.1193C= (p.Pro398=) n.2438C= | |
8 | g.38414173G>T | CA045363 | FGFR1 | c.2165C>A (p.Pro722His) c.2153C>A (p.Pro718His) n.3058C>A n.1405C>A n.855C>A c.2345C>A (p.Pro782His) n.2853C>A c.1886C>A (p.Pro629His) c.*1811C>A (n.*1811C>A) c.*2132C>A (n.*2132C>A) n.3659C>A c.1892C>A (p.Pro631His) c.2135C>A (p.Pro712His) c.*1215C>A (n.*1215C>A) c.1898C>A (p.Pro633His) c.2159C>A (p.Pro720His) c.2258C>A (p.Pro753His) n.4444C>A c.365C>A (p.Pro122His) c.*1060C>A (n.*1060C>A) c.2141C>A (p.Pro714His) c.2264C>A (p.Pro755His) c.1997C>A (p.Pro666His) c.1991C>A (p.Pro664His) c.1874C>A (p.Pro625His) c.2252C>A (p.Pro751His) c.1985C>A (p.Pro662His) c.1193C>A (p.Pro398His) n.2438C>A | ClinVar dbSNP |
8 | g.38414174G>A | CA130223 | FGFR1 | c.2164C>T (p.Pro722Ser) c.2152C>T (p.Pro718Ser) n.3057C>T n.1404C>T n.854C>T c.2344C>T (p.Pro782Ser) n.2852C>T c.1885C>T (p.Pro629Ser) c.*1810C>T (n.*1810C>T) c.*2131C>T (n.*2131C>T) n.3658C>T c.1891C>T (p.Pro631Ser) c.2134C>T (p.Pro712Ser) c.*1214C>T (n.*1214C>T) c.1897C>T (p.Pro633Ser) c.2158C>T (p.Pro720Ser) c.2257C>T (p.Pro753Ser) n.4443C>T c.364C>T (p.Pro122Ser) c.*1059C>T (n.*1059C>T) c.2140C>T (p.Pro714Ser) c.2263C>T (p.Pro755Ser) c.1996C>T (p.Pro666Ser) c.1990C>T (p.Pro664Ser) c.1873C>T (p.Pro625Ser) c.2251C>T (p.Pro751Ser) c.1984C>T (p.Pro662Ser) c.1192C>T (p.Pro398Ser) n.2437C>T | ClinVar dbSNP |
8 | g.38414174G>C | CA370728443 | FGFR1 | c.2164C>G (p.Pro722Ala) c.2152C>G (p.Pro718Ala) n.3057C>G n.1404C>G n.854C>G c.2344C>G (p.Pro782Ala) n.2852C>G c.1885C>G (p.Pro629Ala) c.*1810C>G (n.*1810C>G) c.*2131C>G (n.*2131C>G) n.3658C>G c.1891C>G (p.Pro631Ala) c.2134C>G (p.Pro712Ala) c.*1214C>G (n.*1214C>G) c.1897C>G (p.Pro633Ala) c.2158C>G (p.Pro720Ala) c.2257C>G (p.Pro753Ala) n.4443C>G c.364C>G (p.Pro122Ala) c.*1059C>G (n.*1059C>G) c.2140C>G (p.Pro714Ala) c.2263C>G (p.Pro755Ala) c.1996C>G (p.Pro666Ala) c.1990C>G (p.Pro664Ala) c.1873C>G (p.Pro625Ala) c.2251C>G (p.Pro751Ala) c.1984C>G (p.Pro662Ala) c.1192C>G (p.Pro398Ala) n.2437C>G | dbSNP |
8 | g.38414174G= | CA1777533792 | FGFR1 | c.2164C= (p.Pro722=) c.2152C= (p.Pro718=) n.3057C= n.1404C= n.854C= c.2344C= (p.Pro782=) n.2852C= c.1885C= (p.Pro629=) c.*1810C= (n.*1810C=) c.*2131C= (n.*2131C=) n.3658C= c.1891C= (p.Pro631=) c.2134C= (p.Pro712=) c.*1214C= (n.*1214C=) c.1897C= (p.Pro633=) c.2158C= (p.Pro720=) c.2257C= (p.Pro753=) n.4443C= c.364C= (p.Pro122=) c.*1059C= (n.*1059C=) c.2140C= (p.Pro714=) c.2263C= (p.Pro755=) c.1996C= (p.Pro666=) c.1990C= (p.Pro664=) c.1873C= (p.Pro625=) c.2251C= (p.Pro751=) c.1984C= (p.Pro662=) c.1192C= (p.Pro398=) n.2437C= | |
8 | g.38414174G>T | CA370728445 | FGFR1 | c.2164C>A (p.Pro722Thr) c.2152C>A (p.Pro718Thr) n.3057C>A n.1404C>A n.854C>A c.2344C>A (p.Pro782Thr) n.2852C>A c.1885C>A (p.Pro629Thr) c.*1810C>A (n.*1810C>A) c.*2131C>A (n.*2131C>A) n.3658C>A c.1891C>A (p.Pro631Thr) c.2134C>A (p.Pro712Thr) c.*1214C>A (n.*1214C>A) c.1897C>A (p.Pro633Thr) c.2158C>A (p.Pro720Thr) c.2257C>A (p.Pro753Thr) n.4443C>A c.364C>A (p.Pro122Thr) c.*1059C>A (n.*1059C>A) c.2140C>A (p.Pro714Thr) c.2263C>A (p.Pro755Thr) c.1996C>A (p.Pro666Thr) c.1990C>A (p.Pro664Thr) c.1873C>A (p.Pro625Thr) c.2251C>A (p.Pro751Thr) c.1984C>A (p.Pro662Thr) c.1192C>A (p.Pro398Thr) n.2437C>A | dbSNP |
8 | g.38414175C>A | CA370728450 | FGFR1 | c.2163G>T (p.Lys721Asn) c.2151G>T (p.Lys717Asn) n.3056G>T n.1403G>T n.853G>T c.2343G>T (p.Lys781Asn) n.2851G>T c.1884G>T (p.Lys628Asn) c.*1809G>T (n.*1809G>T) c.*2130G>T (n.*2130G>T) n.3657G>T c.1890G>T (p.Lys630Asn) c.2133G>T (p.Lys711Asn) c.*1213G>T (n.*1213G>T) c.1896G>T (p.Lys632Asn) c.2157G>T (p.Lys719Asn) c.2256G>T (p.Lys752Asn) n.4442G>T c.363G>T (p.Lys121Asn) c.*1058G>T (n.*1058G>T) c.2139G>T (p.Lys713Asn) c.2262G>T (p.Lys754Asn) c.1995G>T (p.Lys665Asn) c.1989G>T (p.Lys663Asn) c.1872G>T (p.Lys624Asn) c.2250G>T (p.Lys750Asn) c.1983G>T (p.Lys661Asn) c.1191G>T (p.Lys397Asn) n.2436G>T | |
8 | g.38414175C= | CA1777533797 | FGFR1 | c.2163G= (p.Lys721=) c.2151G= (p.Lys717=) n.3056G= n.1403G= n.853G= c.2343G= (p.Lys781=) n.2851G= c.1884G= (p.Lys628=) c.*1809G= (n.*1809G=) c.*2130G= (n.*2130G=) n.3657G= c.1890G= (p.Lys630=) c.2133G= (p.Lys711=) c.*1213G= (n.*1213G=) c.1896G= (p.Lys632=) c.2157G= (p.Lys719=) c.2256G= (p.Lys752=) n.4442G= c.363G= (p.Lys121=) c.*1058G= (n.*1058G=) c.2139G= (p.Lys713=) c.2262G= (p.Lys754=) c.1995G= (p.Lys665=) c.1989G= (p.Lys663=) c.1872G= (p.Lys624=) c.2250G= (p.Lys750=) c.1983G= (p.Lys661=) c.1191G= (p.Lys397=) n.2436G= | |
8 | g.38414175C>G | CA370728452 | FGFR1 | c.2163G>C (p.Lys721Asn) c.2151G>C (p.Lys717Asn) n.3056G>C n.1403G>C n.853G>C c.2343G>C (p.Lys781Asn) n.2851G>C c.1884G>C (p.Lys628Asn) c.*1809G>C (n.*1809G>C) c.*2130G>C (n.*2130G>C) n.3657G>C c.1890G>C (p.Lys630Asn) c.2133G>C (p.Lys711Asn) c.*1213G>C (n.*1213G>C) c.1896G>C (p.Lys632Asn) c.2157G>C (p.Lys719Asn) c.2256G>C (p.Lys752Asn) n.4442G>C c.363G>C (p.Lys121Asn) c.*1058G>C (n.*1058G>C) c.2139G>C (p.Lys713Asn) c.2262G>C (p.Lys754Asn) c.1995G>C (p.Lys665Asn) c.1989G>C (p.Lys663Asn) c.1872G>C (p.Lys624Asn) c.2250G>C (p.Lys750Asn) c.1983G>C (p.Lys661Asn) c.1191G>C (p.Lys397Asn) n.2436G>C | |
8 | g.38414175C>T | CA4718168 | FGFR1 | c.2163G>A (p.Lys721=) c.2151G>A (p.Lys717=) n.3056G>A n.1403G>A n.853G>A c.2343G>A (p.Lys781=) n.2851G>A c.1884G>A (p.Lys628=) c.*1809G>A (n.*1809G>A) c.*2130G>A (n.*2130G>A) n.3657G>A c.1890G>A (p.Lys630=) c.2133G>A (p.Lys711=) c.*1213G>A (n.*1213G>A) c.1896G>A (p.Lys632=) c.2157G>A (p.Lys719=) c.2256G>A (p.Lys752=) n.4442G>A c.363G>A (p.Lys121=) c.*1058G>A (n.*1058G>A) c.2139G>A (p.Lys713=) c.2262G>A (p.Lys754=) c.1995G>A (p.Lys665=) c.1989G>A (p.Lys663=) c.1872G>A (p.Lys624=) c.2250G>A (p.Lys750=) c.1983G>A (p.Lys661=) c.1191G>A (p.Lys397=) n.2436G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.38414176T>A | CA370728455 | FGFR1 | c.2162A>T (p.Lys721Met) c.2150A>T (p.Lys717Met) n.3055A>T n.1402A>T n.852A>T c.2342A>T (p.Lys781Met) n.2850A>T c.1883A>T (p.Lys628Met) c.*1808A>T (n.*1808A>T) c.*2129A>T (n.*2129A>T) n.3656A>T c.1889A>T (p.Lys630Met) c.2132A>T (p.Lys711Met) c.*1212A>T (n.*1212A>T) c.1895A>T (p.Lys632Met) c.2156A>T (p.Lys719Met) c.2255A>T (p.Lys752Met) n.4441A>T c.362A>T (p.Lys121Met) c.*1057A>T (n.*1057A>T) c.2138A>T (p.Lys713Met) c.2261A>T (p.Lys754Met) c.1994A>T (p.Lys665Met) c.1988A>T (p.Lys663Met) c.1871A>T (p.Lys624Met) c.2249A>T (p.Lys750Met) c.1982A>T (p.Lys661Met) c.1190A>T (p.Lys397Met) n.2435A>T | dbSNP |
8 | g.38414176T>C | CA370728457 | FGFR1 | c.2162A>G (p.Lys721Arg) c.2150A>G (p.Lys717Arg) n.3055A>G n.1402A>G n.852A>G c.2342A>G (p.Lys781Arg) n.2850A>G c.1883A>G (p.Lys628Arg) c.*1808A>G (n.*1808A>G) c.*2129A>G (n.*2129A>G) n.3656A>G c.1889A>G (p.Lys630Arg) c.2132A>G (p.Lys711Arg) c.*1212A>G (n.*1212A>G) c.1895A>G (p.Lys632Arg) c.2156A>G (p.Lys719Arg) c.2255A>G (p.Lys752Arg) n.4441A>G c.362A>G (p.Lys121Arg) c.*1057A>G (n.*1057A>G) c.2138A>G (p.Lys713Arg) c.2261A>G (p.Lys754Arg) c.1994A>G (p.Lys665Arg) c.1988A>G (p.Lys663Arg) c.1871A>G (p.Lys624Arg) c.2249A>G (p.Lys750Arg) c.1982A>G (p.Lys661Arg) c.1190A>G (p.Lys397Arg) n.2435A>G | dbSNP |
8 | g.38414176T>G | CA370728459 | FGFR1 | c.2162A>C (p.Lys721Thr) c.2150A>C (p.Lys717Thr) n.3055A>C n.1402A>C n.852A>C c.2342A>C (p.Lys781Thr) n.2850A>C c.1883A>C (p.Lys628Thr) c.*1808A>C (n.*1808A>C) c.*2129A>C (n.*2129A>C) n.3656A>C c.1889A>C (p.Lys630Thr) c.2132A>C (p.Lys711Thr) c.*1212A>C (n.*1212A>C) c.1895A>C (p.Lys632Thr) c.2156A>C (p.Lys719Thr) c.2255A>C (p.Lys752Thr) n.4441A>C c.362A>C (p.Lys121Thr) c.*1057A>C (n.*1057A>C) c.2138A>C (p.Lys713Thr) c.2261A>C (p.Lys754Thr) c.1994A>C (p.Lys665Thr) c.1988A>C (p.Lys663Thr) c.1871A>C (p.Lys624Thr) c.2249A>C (p.Lys750Thr) c.1982A>C (p.Lys661Thr) c.1190A>C (p.Lys397Thr) n.2435A>C | |
8 | g.38414177T>A | CA370728463 | FGFR1 | c.2161A>T (p.Lys721Ter) c.2149A>T (p.Lys717Ter) n.3054A>T n.1401A>T n.851A>T c.2341A>T (p.Lys781Ter) n.2849A>T c.1882A>T (p.Lys628Ter) c.*1807A>T (n.*1807A>T) c.*2128A>T (n.*2128A>T) n.3655A>T c.1888A>T (p.Lys630Ter) c.2131A>T (p.Lys711Ter) c.*1211A>T (n.*1211A>T) c.1894A>T (p.Lys632Ter) c.2155A>T (p.Lys719Ter) c.2254A>T (p.Lys752Ter) n.4440A>T c.361A>T (p.Lys121Ter) c.*1056A>T (n.*1056A>T) c.2137A>T (p.Lys713Ter) c.2260A>T (p.Lys754Ter) c.1993A>T (p.Lys665Ter) c.1987A>T (p.Lys663Ter) c.1870A>T (p.Lys624Ter) c.2248A>T (p.Lys750Ter) c.1981A>T (p.Lys661Ter) c.1189A>T (p.Lys397Ter) n.2434A>T | dbSNP |
8 | g.38414177T>C | CA370728465 | FGFR1 | c.2161A>G (p.Lys721Glu) c.2149A>G (p.Lys717Glu) n.3054A>G n.1401A>G n.851A>G c.2341A>G (p.Lys781Glu) n.2849A>G c.1882A>G (p.Lys628Glu) c.*1807A>G (n.*1807A>G) c.*2128A>G (n.*2128A>G) n.3655A>G c.1888A>G (p.Lys630Glu) c.2131A>G (p.Lys711Glu) c.*1211A>G (n.*1211A>G) c.1894A>G (p.Lys632Glu) c.2155A>G (p.Lys719Glu) c.2254A>G (p.Lys752Glu) n.4440A>G c.361A>G (p.Lys121Glu) c.*1056A>G (n.*1056A>G) c.2137A>G (p.Lys713Glu) c.2260A>G (p.Lys754Glu) c.1993A>G (p.Lys665Glu) c.1987A>G (p.Lys663Glu) c.1870A>G (p.Lys624Glu) c.2248A>G (p.Lys750Glu) c.1981A>G (p.Lys661Glu) c.1189A>G (p.Lys397Glu) n.2434A>G | dbSNP |
8 | g.38414177T>G | CA4718169 | FGFR1 | c.2161A>C (p.Lys721Gln) c.2149A>C (p.Lys717Gln) n.3054A>C n.1401A>C n.851A>C c.2341A>C (p.Lys781Gln) n.2849A>C c.1882A>C (p.Lys628Gln) c.*1807A>C (n.*1807A>C) c.*2128A>C (n.*2128A>C) n.3655A>C c.1888A>C (p.Lys630Gln) c.2131A>C (p.Lys711Gln) c.*1211A>C (n.*1211A>C) c.1894A>C (p.Lys632Gln) c.2155A>C (p.Lys719Gln) c.2254A>C (p.Lys752Gln) n.4440A>C c.361A>C (p.Lys121Gln) c.*1056A>C (n.*1056A>C) c.2137A>C (p.Lys713Gln) c.2260A>C (p.Lys754Gln) c.1993A>C (p.Lys665Gln) c.1987A>C (p.Lys663Gln) c.1870A>C (p.Lys624Gln) c.2248A>C (p.Lys750Gln) c.1981A>C (p.Lys661Gln) c.1189A>C (p.Lys397Gln) n.2434A>C | dbSNP ExAC gnomAD v2 |
8 | g.38414177T= | CA1777533799 | FGFR1 | c.2161A= (p.Lys721=) c.2149A= (p.Lys717=) n.3054A= n.1401A= n.851A= c.2341A= (p.Lys781=) n.2849A= c.1882A= (p.Lys628=) c.*1807A= (n.*1807A=) c.*2128A= (n.*2128A=) n.3655A= c.1888A= (p.Lys630=) c.2131A= (p.Lys711=) c.*1211A= (n.*1211A=) c.1894A= (p.Lys632=) c.2155A= (p.Lys719=) c.2254A= (p.Lys752=) n.4440A= c.361A= (p.Lys121=) c.*1056A= (n.*1056A=) c.2137A= (p.Lys713=) c.2260A= (p.Lys754=) c.1993A= (p.Lys665=) c.1987A= (p.Lys663=) c.1870A= (p.Lys624=) c.2248A= (p.Lys750=) c.1981A= (p.Lys661=) c.1189A= (p.Lys397=) n.2434A= | |
8 | g.38414178G>A | CA4718170 | FGFR1 | c.2160C>T (p.Asp720=) c.2148C>T (p.Asp716=) n.3053C>T n.1400C>T n.850C>T c.2340C>T (p.Asp780=) n.2848C>T c.1881C>T (p.Asp627=) c.*1806C>T (n.*1806C>T) c.*2127C>T (n.*2127C>T) n.3654C>T c.1887C>T (p.Asp629=) c.2130C>T (p.Asp710=) c.*1210C>T (n.*1210C>T) c.1893C>T (p.Asp631=) c.2154C>T (p.Asp718=) c.2253C>T (p.Asp751=) n.4439C>T c.360C>T (p.Asp120=) c.*1055C>T (n.*1055C>T) c.2136C>T (p.Asp712=) c.2259C>T (p.Asp753=) c.1992C>T (p.Asp664=) c.1986C>T (p.Asp662=) c.1869C>T (p.Asp623=) c.2247C>T (p.Asp749=) c.1980C>T (p.Asp660=) c.1188C>T (p.Asp396=) n.2433C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38414178G>C | CA370728471 | FGFR1 | c.2160C>G (p.Asp720Glu) c.2148C>G (p.Asp716Glu) n.3053C>G n.1400C>G n.850C>G c.2340C>G (p.Asp780Glu) n.2848C>G c.1881C>G (p.Asp627Glu) c.*1806C>G (n.*1806C>G) c.*2127C>G (n.*2127C>G) n.3654C>G c.1887C>G (p.Asp629Glu) c.2130C>G (p.Asp710Glu) c.*1210C>G (n.*1210C>G) c.1893C>G (p.Asp631Glu) c.2154C>G (p.Asp718Glu) c.2253C>G (p.Asp751Glu) n.4439C>G c.360C>G (p.Asp120Glu) c.*1055C>G (n.*1055C>G) c.2136C>G (p.Asp712Glu) c.2259C>G (p.Asp753Glu) c.1992C>G (p.Asp664Glu) c.1986C>G (p.Asp662Glu) c.1869C>G (p.Asp623Glu) c.2247C>G (p.Asp749Glu) c.1980C>G (p.Asp660Glu) c.1188C>G (p.Asp396Glu) n.2433C>G | dbSNP gnomAD v4 |
8 | g.38414178G= | CA1777533802 | FGFR1 | c.2160C= (p.Asp720=) c.2148C= (p.Asp716=) n.3053C= n.1400C= n.850C= c.2340C= (p.Asp780=) n.2848C= c.1881C= (p.Asp627=) c.*1806C= (n.*1806C=) c.*2127C= (n.*2127C=) n.3654C= c.1887C= (p.Asp629=) c.2130C= (p.Asp710=) c.*1210C= (n.*1210C=) c.1893C= (p.Asp631=) c.2154C= (p.Asp718=) c.2253C= (p.Asp751=) n.4439C= c.360C= (p.Asp120=) c.*1055C= (n.*1055C=) c.2136C= (p.Asp712=) c.2259C= (p.Asp753=) c.1992C= (p.Asp664=) c.1986C= (p.Asp662=) c.1869C= (p.Asp623=) c.2247C= (p.Asp749=) c.1980C= (p.Asp660=) c.1188C= (p.Asp396=) n.2433C= | |
8 | g.38414178G>T | CA370728469 | FGFR1 | c.2160C>A (p.Asp720Glu) c.2148C>A (p.Asp716Glu) n.3053C>A n.1400C>A n.850C>A c.2340C>A (p.Asp780Glu) n.2848C>A c.1881C>A (p.Asp627Glu) c.*1806C>A (n.*1806C>A) c.*2127C>A (n.*2127C>A) n.3654C>A c.1887C>A (p.Asp629Glu) c.2130C>A (p.Asp710Glu) c.*1210C>A (n.*1210C>A) c.1893C>A (p.Asp631Glu) c.2154C>A (p.Asp718Glu) c.2253C>A (p.Asp751Glu) n.4439C>A c.360C>A (p.Asp120Glu) c.*1055C>A (n.*1055C>A) c.2136C>A (p.Asp712Glu) c.2259C>A (p.Asp753Glu) c.1992C>A (p.Asp664Glu) c.1986C>A (p.Asp662Glu) c.1869C>A (p.Asp623Glu) c.2247C>A (p.Asp749Glu) c.1980C>A (p.Asp660Glu) c.1188C>A (p.Asp396Glu) n.2433C>A | gnomAD v4 |
8 | g.38414179T>A | CA370728476 | FGFR1 | c.2159A>T (p.Asp720Val) c.2147A>T (p.Asp716Val) n.3052A>T n.1399A>T n.849A>T c.2339A>T (p.Asp780Val) n.2847A>T c.1880A>T (p.Asp627Val) c.*1805A>T (n.*1805A>T) c.*2126A>T (n.*2126A>T) n.3653A>T c.1886A>T (p.Asp629Val) c.2129A>T (p.Asp710Val) c.*1209A>T (n.*1209A>T) c.1892A>T (p.Asp631Val) c.2153A>T (p.Asp718Val) c.2252A>T (p.Asp751Val) n.4438A>T c.359A>T (p.Asp120Val) c.*1054A>T (n.*1054A>T) c.2135A>T (p.Asp712Val) c.2258A>T (p.Asp753Val) c.1991A>T (p.Asp664Val) c.1985A>T (p.Asp662Val) c.1868A>T (p.Asp623Val) c.2246A>T (p.Asp749Val) c.1979A>T (p.Asp660Val) c.1187A>T (p.Asp396Val) n.2432A>T | |
8 | g.38414179T>C | CA370728478 | FGFR1 | c.2159A>G (p.Asp720Gly) c.2147A>G (p.Asp716Gly) n.3052A>G n.1399A>G n.849A>G c.2339A>G (p.Asp780Gly) n.2847A>G c.1880A>G (p.Asp627Gly) c.*1805A>G (n.*1805A>G) c.*2126A>G (n.*2126A>G) n.3653A>G c.1886A>G (p.Asp629Gly) c.2129A>G (p.Asp710Gly) c.*1209A>G (n.*1209A>G) c.1892A>G (p.Asp631Gly) c.2153A>G (p.Asp718Gly) c.2252A>G (p.Asp751Gly) n.4438A>G c.359A>G (p.Asp120Gly) c.*1054A>G (n.*1054A>G) c.2135A>G (p.Asp712Gly) c.2258A>G (p.Asp753Gly) c.1991A>G (p.Asp664Gly) c.1985A>G (p.Asp662Gly) c.1868A>G (p.Asp623Gly) c.2246A>G (p.Asp749Gly) c.1979A>G (p.Asp660Gly) c.1187A>G (p.Asp396Gly) n.2432A>G | |
8 | g.38414179T>G | CA370728480 | FGFR1 | c.2159A>C (p.Asp720Ala) c.2147A>C (p.Asp716Ala) n.3052A>C n.1399A>C n.849A>C c.2339A>C (p.Asp780Ala) n.2847A>C c.1880A>C (p.Asp627Ala) c.*1805A>C (n.*1805A>C) c.*2126A>C (n.*2126A>C) n.3653A>C c.1886A>C (p.Asp629Ala) c.2129A>C (p.Asp710Ala) c.*1209A>C (n.*1209A>C) c.1892A>C (p.Asp631Ala) c.2153A>C (p.Asp718Ala) c.2252A>C (p.Asp751Ala) n.4438A>C c.359A>C (p.Asp120Ala) c.*1054A>C (n.*1054A>C) c.2135A>C (p.Asp712Ala) c.2258A>C (p.Asp753Ala) c.1991A>C (p.Asp664Ala) c.1985A>C (p.Asp662Ala) c.1868A>C (p.Asp623Ala) c.2246A>C (p.Asp749Ala) c.1979A>C (p.Asp660Ala) c.1187A>C (p.Asp396Ala) n.2432A>C | |
8 | g.38414180C>A | CA370728484 | FGFR1 | c.2158G>T (p.Asp720Tyr) c.2146G>T (p.Asp716Tyr) n.3051G>T n.1398G>T n.848G>T c.2338G>T (p.Asp780Tyr) n.2846G>T c.1879G>T (p.Asp627Tyr) c.*1804G>T (n.*1804G>T) c.*2125G>T (n.*2125G>T) n.3652G>T c.1885G>T (p.Asp629Tyr) c.2128G>T (p.Asp710Tyr) c.*1208G>T (n.*1208G>T) c.1891G>T (p.Asp631Tyr) c.2152G>T (p.Asp718Tyr) c.2251G>T (p.Asp751Tyr) n.4437G>T c.358G>T (p.Asp120Tyr) c.*1053G>T (n.*1053G>T) c.2134G>T (p.Asp712Tyr) c.2257G>T (p.Asp753Tyr) c.1990G>T (p.Asp664Tyr) c.1984G>T (p.Asp662Tyr) c.1867G>T (p.Asp623Tyr) c.2245G>T (p.Asp749Tyr) c.1978G>T (p.Asp660Tyr) c.1186G>T (p.Asp396Tyr) n.2431G>T | dbSNP |
8 | g.38414180C>G | CA370728486 | FGFR1 | c.2158G>C (p.Asp720His) c.2146G>C (p.Asp716His) n.3051G>C n.1398G>C n.848G>C c.2338G>C (p.Asp780His) n.2846G>C c.1879G>C (p.Asp627His) c.*1804G>C (n.*1804G>C) c.*2125G>C (n.*2125G>C) n.3652G>C c.1885G>C (p.Asp629His) c.2128G>C (p.Asp710His) c.*1208G>C (n.*1208G>C) c.1891G>C (p.Asp631His) c.2152G>C (p.Asp718His) c.2251G>C (p.Asp751His) n.4437G>C c.358G>C (p.Asp120His) c.*1053G>C (n.*1053G>C) c.2134G>C (p.Asp712His) c.2257G>C (p.Asp753His) c.1990G>C (p.Asp664His) c.1984G>C (p.Asp662His) c.1867G>C (p.Asp623His) c.2245G>C (p.Asp749His) c.1978G>C (p.Asp660His) c.1186G>C (p.Asp396His) n.2431G>C | dbSNP |
8 | g.38414180C>T | CA370728488 | FGFR1 | c.2158G>A (p.Asp720Asn) c.2146G>A (p.Asp716Asn) n.3051G>A n.1398G>A n.848G>A c.2338G>A (p.Asp780Asn) n.2846G>A c.1879G>A (p.Asp627Asn) c.*1804G>A (n.*1804G>A) c.*2125G>A (n.*2125G>A) n.3652G>A c.1885G>A (p.Asp629Asn) c.2128G>A (p.Asp710Asn) c.*1208G>A (n.*1208G>A) c.1891G>A (p.Asp631Asn) c.2152G>A (p.Asp718Asn) c.2251G>A (p.Asp751Asn) n.4437G>A c.358G>A (p.Asp120Asn) c.*1053G>A (n.*1053G>A) c.2134G>A (p.Asp712Asn) c.2257G>A (p.Asp753Asn) c.1990G>A (p.Asp664Asn) c.1984G>A (p.Asp662Asn) c.1867G>A (p.Asp623Asn) c.2245G>A (p.Asp749Asn) c.1978G>A (p.Asp660Asn) c.1186G>A (p.Asp396Asn) n.2431G>A | dbSNP |
8 | g.38414181C>A | CA370728491 | FGFR1 | c.2157G>T (p.Met719Ile) c.2145G>T (p.Met715Ile) n.3050G>T n.1397G>T n.847G>T c.2337G>T (p.Met779Ile) n.2845G>T c.1878G>T (p.Met626Ile) c.*1803G>T (n.*1803G>T) c.*2124G>T (n.*2124G>T) n.3651G>T c.1884G>T (p.Met628Ile) c.2127G>T (p.Met709Ile) c.*1207G>T (n.*1207G>T) c.1890G>T (p.Met630Ile) c.2151G>T (p.Met717Ile) c.2250G>T (p.Met750Ile) n.4436G>T c.357G>T (p.Met119Ile) c.*1052G>T (n.*1052G>T) c.2133G>T (p.Met711Ile) c.2256G>T (p.Met752Ile) c.1989G>T (p.Met663Ile) c.1983G>T (p.Met661Ile) c.1866G>T (p.Met622Ile) c.2244G>T (p.Met748Ile) c.1977G>T (p.Met659Ile) c.1185G>T (p.Met395Ile) n.2430G>T | |
8 | g.38414181C>G | CA370728493 | FGFR1 | c.2157G>C (p.Met719Ile) c.2145G>C (p.Met715Ile) n.3050G>C n.1397G>C n.847G>C c.2337G>C (p.Met779Ile) n.2845G>C c.1878G>C (p.Met626Ile) c.*1803G>C (n.*1803G>C) c.*2124G>C (n.*2124G>C) n.3651G>C c.1884G>C (p.Met628Ile) c.2127G>C (p.Met709Ile) c.*1207G>C (n.*1207G>C) c.1890G>C (p.Met630Ile) c.2151G>C (p.Met717Ile) c.2250G>C (p.Met750Ile) n.4436G>C c.357G>C (p.Met119Ile) c.*1052G>C (n.*1052G>C) c.2133G>C (p.Met711Ile) c.2256G>C (p.Met752Ile) c.1989G>C (p.Met663Ile) c.1983G>C (p.Met661Ile) c.1866G>C (p.Met622Ile) c.2244G>C (p.Met748Ile) c.1977G>C (p.Met659Ile) c.1185G>C (p.Met395Ile) n.2430G>C | dbSNP |
8 | g.38414181C>T | CA370728495 | FGFR1 | c.2157G>A (p.Met719Ile) c.2145G>A (p.Met715Ile) n.3050G>A n.1397G>A n.847G>A c.2337G>A (p.Met779Ile) n.2845G>A c.1878G>A (p.Met626Ile) c.*1803G>A (n.*1803G>A) c.*2124G>A (n.*2124G>A) n.3651G>A c.1884G>A (p.Met628Ile) c.2127G>A (p.Met709Ile) c.*1207G>A (n.*1207G>A) c.1890G>A (p.Met630Ile) c.2151G>A (p.Met717Ile) c.2250G>A (p.Met750Ile) n.4436G>A c.357G>A (p.Met119Ile) c.*1052G>A (n.*1052G>A) c.2133G>A (p.Met711Ile) c.2256G>A (p.Met752Ile) c.1989G>A (p.Met663Ile) c.1983G>A (p.Met661Ile) c.1866G>A (p.Met622Ile) c.2244G>A (p.Met748Ile) c.1977G>A (p.Met659Ile) c.1185G>A (p.Met395Ile) n.2430G>A | dbSNP |
8 | g.38414182A>C | CA370728497 | FGFR1 | c.2156T>G (p.Met719Arg) c.2144T>G (p.Met715Arg) n.3049T>G n.1396T>G n.846T>G c.2336T>G (p.Met779Arg) n.2844T>G c.1877T>G (p.Met626Arg) c.*1802T>G (n.*1802T>G) c.*2123T>G (n.*2123T>G) n.3650T>G c.1883T>G (p.Met628Arg) c.2126T>G (p.Met709Arg) c.*1206T>G (n.*1206T>G) c.1889T>G (p.Met630Arg) c.2150T>G (p.Met717Arg) c.2249T>G (p.Met750Arg) n.4435T>G c.356T>G (p.Met119Arg) c.*1051T>G (n.*1051T>G) c.2132T>G (p.Met711Arg) c.2255T>G (p.Met752Arg) c.1988T>G (p.Met663Arg) c.1982T>G (p.Met661Arg) c.1865T>G (p.Met622Arg) c.2243T>G (p.Met748Arg) c.1976T>G (p.Met659Arg) c.1184T>G (p.Met395Arg) n.2429T>G | dbSNP |
8 | g.38414182A>G | CA370728499 | FGFR1 | c.2156T>C (p.Met719Thr) c.2144T>C (p.Met715Thr) n.3049T>C n.1396T>C n.846T>C c.2336T>C (p.Met779Thr) n.2844T>C c.1877T>C (p.Met626Thr) c.*1802T>C (n.*1802T>C) c.*2123T>C (n.*2123T>C) n.3650T>C c.1883T>C (p.Met628Thr) c.2126T>C (p.Met709Thr) c.*1206T>C (n.*1206T>C) c.1889T>C (p.Met630Thr) c.2150T>C (p.Met717Thr) c.2249T>C (p.Met750Thr) n.4435T>C c.356T>C (p.Met119Thr) c.*1051T>C (n.*1051T>C) c.2132T>C (p.Met711Thr) c.2255T>C (p.Met752Thr) c.1988T>C (p.Met663Thr) c.1982T>C (p.Met661Thr) c.1865T>C (p.Met622Thr) c.2243T>C (p.Met748Thr) c.1976T>C (p.Met659Thr) c.1184T>C (p.Met395Thr) n.2429T>C | COSMIC |
8 | g.38414182A>T | CA370728501 | FGFR1 | c.2156T>A (p.Met719Lys) c.2144T>A (p.Met715Lys) n.3049T>A n.1396T>A n.846T>A c.2336T>A (p.Met779Lys) n.2844T>A c.1877T>A (p.Met626Lys) c.*1802T>A (n.*1802T>A) c.*2123T>A (n.*2123T>A) n.3650T>A c.1883T>A (p.Met628Lys) c.2126T>A (p.Met709Lys) c.*1206T>A (n.*1206T>A) c.1889T>A (p.Met630Lys) c.2150T>A (p.Met717Lys) c.2249T>A (p.Met750Lys) n.4435T>A c.356T>A (p.Met119Lys) c.*1051T>A (n.*1051T>A) c.2132T>A (p.Met711Lys) c.2255T>A (p.Met752Lys) c.1988T>A (p.Met663Lys) c.1982T>A (p.Met661Lys) c.1865T>A (p.Met622Lys) c.2243T>A (p.Met748Lys) c.1976T>A (p.Met659Lys) c.1184T>A (p.Met395Lys) n.2429T>A | dbSNP |
8 | g.38414183T>A | CA370728506 | FGFR1 | c.2155A>T (p.Met719Leu) c.2143A>T (p.Met715Leu) n.3048A>T n.1395A>T n.845A>T c.2335A>T (p.Met779Leu) n.2843A>T c.1876A>T (p.Met626Leu) c.*1801A>T (n.*1801A>T) c.*2122A>T (n.*2122A>T) n.3649A>T c.1882A>T (p.Met628Leu) c.2125A>T (p.Met709Leu) c.*1205A>T (n.*1205A>T) c.1888A>T (p.Met630Leu) c.2149A>T (p.Met717Leu) c.2248A>T (p.Met750Leu) n.4434A>T c.355A>T (p.Met119Leu) c.*1050A>T (n.*1050A>T) c.2131A>T (p.Met711Leu) c.2254A>T (p.Met752Leu) c.1987A>T (p.Met663Leu) c.1981A>T (p.Met661Leu) c.1864A>T (p.Met622Leu) c.2242A>T (p.Met748Leu) c.1975A>T (p.Met659Leu) c.1183A>T (p.Met395Leu) n.2428A>T | dbSNP |
8 | g.38414183T>C | CA370728508 | FGFR1 | c.2155A>G (p.Met719Val) c.2143A>G (p.Met715Val) n.3048A>G n.1395A>G n.845A>G c.2335A>G (p.Met779Val) n.2843A>G c.1876A>G (p.Met626Val) c.*1801A>G (n.*1801A>G) c.*2122A>G (n.*2122A>G) n.3649A>G c.1882A>G (p.Met628Val) c.2125A>G (p.Met709Val) c.*1205A>G (n.*1205A>G) c.1888A>G (p.Met630Val) c.2149A>G (p.Met717Val) c.2248A>G (p.Met750Val) n.4434A>G c.355A>G (p.Met119Val) c.*1050A>G (n.*1050A>G) c.2131A>G (p.Met711Val) c.2254A>G (p.Met752Val) c.1987A>G (p.Met663Val) c.1981A>G (p.Met661Val) c.1864A>G (p.Met622Val) c.2242A>G (p.Met748Val) c.1975A>G (p.Met659Val) c.1183A>G (p.Met395Val) n.2428A>G | ClinVar dbSNP |
8 | g.38414183T>G | CA370728504 | FGFR1 | c.2155A>C (p.Met719Leu) c.2143A>C (p.Met715Leu) n.3048A>C n.1395A>C n.845A>C c.2335A>C (p.Met779Leu) n.2843A>C c.1876A>C (p.Met626Leu) c.*1801A>C (n.*1801A>C) c.*2122A>C (n.*2122A>C) n.3649A>C c.1882A>C (p.Met628Leu) c.2125A>C (p.Met709Leu) c.*1205A>C (n.*1205A>C) c.1888A>C (p.Met630Leu) c.2149A>C (p.Met717Leu) c.2248A>C (p.Met750Leu) n.4434A>C c.355A>C (p.Met119Leu) c.*1050A>C (n.*1050A>C) c.2131A>C (p.Met711Leu) c.2254A>C (p.Met752Leu) c.1987A>C (p.Met663Leu) c.1981A>C (p.Met661Leu) c.1864A>C (p.Met622Leu) c.2242A>C (p.Met748Leu) c.1975A>C (p.Met659Leu) c.1183A>C (p.Met395Leu) n.2428A>C | |
8 | g.38414183T= | CA1777533806 | FGFR1 | c.2155A= (p.Met719=) c.2143A= (p.Met715=) n.3048A= n.1395A= n.845A= c.2335A= (p.Met779=) n.2843A= c.1876A= (p.Met626=) c.*1801A= (n.*1801A=) c.*2122A= (n.*2122A=) n.3649A= c.1882A= (p.Met628=) c.2125A= (p.Met709=) c.*1205A= (n.*1205A=) c.1888A= (p.Met630=) c.2149A= (p.Met717=) c.2248A= (p.Met750=) n.4434A= c.355A= (p.Met119=) c.*1050A= (n.*1050A=) c.2131A= (p.Met711=) c.2254A= (p.Met752=) c.1987A= (p.Met663=) c.1981A= (p.Met661=) c.1864A= (p.Met622=) c.2242A= (p.Met748=) c.1975A= (p.Met659=) c.1183A= (p.Met395=) n.2428A= | |
8 | g.38414184G>A | CA460499292 | FGFR1 | c.2154C>T (p.Arg718=) c.2142C>T (p.Arg714=) n.3047C>T n.1394C>T n.844C>T c.2334C>T (p.Arg778=) n.2842C>T c.1875C>T (p.Arg625=) c.*1800C>T (n.*1800C>T) c.*2121C>T (n.*2121C>T) n.3648C>T c.1881C>T (p.Arg627=) c.2124C>T (p.Arg708=) c.*1204C>T (n.*1204C>T) c.1887C>T (p.Arg629=) c.2148C>T (p.Arg716=) c.2247C>T (p.Arg749=) n.4433C>T c.354C>T (p.Arg118=) c.*1049C>T (n.*1049C>T) c.2130C>T (p.Arg710=) c.2253C>T (p.Arg751=) c.1986C>T (p.Arg662=) c.1980C>T (p.Arg660=) c.1863C>T (p.Arg621=) c.2241C>T (p.Arg747=) c.1974C>T (p.Arg658=) c.1182C>T (p.Arg394=) n.2427C>T | dbSNP |
8 | g.38414184G>C | CA460499293 | FGFR1 | c.2154C>G (p.Arg718=) c.2142C>G (p.Arg714=) n.3047C>G n.1394C>G n.844C>G c.2334C>G (p.Arg778=) n.2842C>G c.1875C>G (p.Arg625=) c.*1800C>G (n.*1800C>G) c.*2121C>G (n.*2121C>G) n.3648C>G c.1881C>G (p.Arg627=) c.2124C>G (p.Arg708=) c.*1204C>G (n.*1204C>G) c.1887C>G (p.Arg629=) c.2148C>G (p.Arg716=) c.2247C>G (p.Arg749=) n.4433C>G c.354C>G (p.Arg118=) c.*1049C>G (n.*1049C>G) c.2130C>G (p.Arg710=) c.2253C>G (p.Arg751=) c.1986C>G (p.Arg662=) c.1980C>G (p.Arg660=) c.1863C>G (p.Arg621=) c.2241C>G (p.Arg747=) c.1974C>G (p.Arg658=) c.1182C>G (p.Arg394=) n.2427C>G | dbSNP |
8 | g.38414184G>T | CA460499294 | FGFR1 | c.2154C>A (p.Arg718=) c.2142C>A (p.Arg714=) n.3047C>A n.1394C>A n.844C>A c.2334C>A (p.Arg778=) n.2842C>A c.1875C>A (p.Arg625=) c.*1800C>A (n.*1800C>A) c.*2121C>A (n.*2121C>A) n.3648C>A c.1881C>A (p.Arg627=) c.2124C>A (p.Arg708=) c.*1204C>A (n.*1204C>A) c.1887C>A (p.Arg629=) c.2148C>A (p.Arg716=) c.2247C>A (p.Arg749=) n.4433C>A c.354C>A (p.Arg118=) c.*1049C>A (n.*1049C>A) c.2130C>A (p.Arg710=) c.2253C>A (p.Arg751=) c.1986C>A (p.Arg662=) c.1980C>A (p.Arg660=) c.1863C>A (p.Arg621=) c.2241C>A (p.Arg747=) c.1974C>A (p.Arg658=) c.1182C>A (p.Arg394=) n.2427C>A | dbSNP gnomAD v4 |
8 | g.38414185C>A | CA370728511 | FGFR1 | c.2153G>T (p.Arg718Leu) c.2141G>T (p.Arg714Leu) n.3046G>T n.1393G>T n.843G>T c.2333G>T (p.Arg778Leu) n.2841G>T c.1874G>T (p.Arg625Leu) c.*1799G>T (n.*1799G>T) c.*2120G>T (n.*2120G>T) n.3647G>T c.1880G>T (p.Arg627Leu) c.2123G>T (p.Arg708Leu) c.*1203G>T (n.*1203G>T) c.1886G>T (p.Arg629Leu) c.2147G>T (p.Arg716Leu) c.2246G>T (p.Arg749Leu) n.4432G>T c.353G>T (p.Arg118Leu) c.*1048G>T (n.*1048G>T) c.2129G>T (p.Arg710Leu) c.2252G>T (p.Arg751Leu) c.1985G>T (p.Arg662Leu) c.1979G>T (p.Arg660Leu) c.1862G>T (p.Arg621Leu) c.2240G>T (p.Arg747Leu) c.1973G>T (p.Arg658Leu) c.1181G>T (p.Arg394Leu) n.2426G>T | dbSNP |
8 | g.38414185C= | CA1777533808 | FGFR1 | c.2153G= (p.Arg718=) c.2141G= (p.Arg714=) n.3046G= n.1393G= n.843G= c.2333G= (p.Arg778=) n.2841G= c.1874G= (p.Arg625=) c.*1799G= (n.*1799G=) c.*2120G= (n.*2120G=) n.3647G= c.1880G= (p.Arg627=) c.2123G= (p.Arg708=) c.*1203G= (n.*1203G=) c.1886G= (p.Arg629=) c.2147G= (p.Arg716=) c.2246G= (p.Arg749=) n.4432G= c.353G= (p.Arg118=) c.*1048G= (n.*1048G=) c.2129G= (p.Arg710=) c.2252G= (p.Arg751=) c.1985G= (p.Arg662=) c.1979G= (p.Arg660=) c.1862G= (p.Arg621=) c.2240G= (p.Arg747=) c.1973G= (p.Arg658=) c.1181G= (p.Arg394=) n.2426G= | |
8 | g.38414185C>G | CA370728513 | FGFR1 | c.2153G>C (p.Arg718Pro) c.2141G>C (p.Arg714Pro) n.3046G>C n.1393G>C n.843G>C c.2333G>C (p.Arg778Pro) n.2841G>C c.1874G>C (p.Arg625Pro) c.*1799G>C (n.*1799G>C) c.*2120G>C (n.*2120G>C) n.3647G>C c.1880G>C (p.Arg627Pro) c.2123G>C (p.Arg708Pro) c.*1203G>C (n.*1203G>C) c.1886G>C (p.Arg629Pro) c.2147G>C (p.Arg716Pro) c.2246G>C (p.Arg749Pro) n.4432G>C c.353G>C (p.Arg118Pro) c.*1048G>C (n.*1048G>C) c.2129G>C (p.Arg710Pro) c.2252G>C (p.Arg751Pro) c.1985G>C (p.Arg662Pro) c.1979G>C (p.Arg660Pro) c.1862G>C (p.Arg621Pro) c.2240G>C (p.Arg747Pro) c.1973G>C (p.Arg658Pro) c.1181G>C (p.Arg394Pro) n.2426G>C | |
8 | g.38414185C>T | CA370728515 | FGFR1 | c.2153G>A (p.Arg718His) c.2141G>A (p.Arg714His) n.3046G>A n.1393G>A n.843G>A c.2333G>A (p.Arg778His) n.2841G>A c.1874G>A (p.Arg625His) c.*1799G>A (n.*1799G>A) c.*2120G>A (n.*2120G>A) n.3647G>A c.1880G>A (p.Arg627His) c.2123G>A (p.Arg708His) c.*1203G>A (n.*1203G>A) c.1886G>A (p.Arg629His) c.2147G>A (p.Arg716His) c.2246G>A (p.Arg749His) n.4432G>A c.353G>A (p.Arg118His) c.*1048G>A (n.*1048G>A) c.2129G>A (p.Arg710His) c.2252G>A (p.Arg751His) c.1985G>A (p.Arg662His) c.1979G>A (p.Arg660His) c.1862G>A (p.Arg621His) c.2240G>A (p.Arg747His) c.1973G>A (p.Arg658His) c.1181G>A (p.Arg394His) n.2426G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
8 | g.38414186G>A | CA370728517 | FGFR1 | c.2152C>T (p.Arg718Cys) c.2140C>T (p.Arg714Cys) n.3045C>T n.1392C>T n.842C>T c.2332C>T (p.Arg778Cys) n.2840C>T c.1873C>T (p.Arg625Cys) c.*1798C>T (n.*1798C>T) c.*2119C>T (n.*2119C>T) n.3646C>T c.1879C>T (p.Arg627Cys) c.2122C>T (p.Arg708Cys) c.*1202C>T (n.*1202C>T) c.1885C>T (p.Arg629Cys) c.2146C>T (p.Arg716Cys) c.2245C>T (p.Arg749Cys) n.4431C>T c.352C>T (p.Arg118Cys) c.*1047C>T (n.*1047C>T) c.2128C>T (p.Arg710Cys) c.2251C>T (p.Arg751Cys) c.1984C>T (p.Arg662Cys) c.1978C>T (p.Arg660Cys) c.1861C>T (p.Arg621Cys) c.2239C>T (p.Arg747Cys) c.1972C>T (p.Arg658Cys) c.1180C>T (p.Arg394Cys) n.2425C>T | ClinVar dbSNP |
8 | g.38414186G>C | CA16606093 | FGFR1 | c.2152C>G (p.Arg718Gly) c.2140C>G (p.Arg714Gly) n.3045C>G n.1392C>G n.842C>G c.2332C>G (p.Arg778Gly) n.2840C>G c.1873C>G (p.Arg625Gly) c.*1798C>G (n.*1798C>G) c.*2119C>G (n.*2119C>G) n.3646C>G c.1879C>G (p.Arg627Gly) c.2122C>G (p.Arg708Gly) c.*1202C>G (n.*1202C>G) c.1885C>G (p.Arg629Gly) c.2146C>G (p.Arg716Gly) c.2245C>G (p.Arg749Gly) n.4431C>G c.352C>G (p.Arg118Gly) c.*1047C>G (n.*1047C>G) c.2128C>G (p.Arg710Gly) c.2251C>G (p.Arg751Gly) c.1984C>G (p.Arg662Gly) c.1978C>G (p.Arg660Gly) c.1861C>G (p.Arg621Gly) c.2239C>G (p.Arg747Gly) c.1972C>G (p.Arg658Gly) c.1180C>G (p.Arg394Gly) n.2425C>G | ClinVar dbSNP |
8 | g.38414186G= | CA1777533811 | FGFR1 | c.2152C= (p.Arg718=) c.2140C= (p.Arg714=) n.3045C= n.1392C= n.842C= c.2332C= (p.Arg778=) n.2840C= c.1873C= (p.Arg625=) c.*1798C= (n.*1798C=) c.*2119C= (n.*2119C=) n.3646C= c.1879C= (p.Arg627=) c.2122C= (p.Arg708=) c.*1202C= (n.*1202C=) c.1885C= (p.Arg629=) c.2146C= (p.Arg716=) c.2245C= (p.Arg749=) n.4431C= c.352C= (p.Arg118=) c.*1047C= (n.*1047C=) c.2128C= (p.Arg710=) c.2251C= (p.Arg751=) c.1984C= (p.Arg662=) c.1978C= (p.Arg660=) c.1861C= (p.Arg621=) c.2239C= (p.Arg747=) c.1972C= (p.Arg658=) c.1180C= (p.Arg394=) n.2425C= | |
8 | g.38414186G>T | CA370728520 | FGFR1 | c.2152C>A (p.Arg718Ser) c.2140C>A (p.Arg714Ser) n.3045C>A n.1392C>A n.842C>A c.2332C>A (p.Arg778Ser) n.2840C>A c.1873C>A (p.Arg625Ser) c.*1798C>A (n.*1798C>A) c.*2119C>A (n.*2119C>A) n.3646C>A c.1879C>A (p.Arg627Ser) c.2122C>A (p.Arg708Ser) c.*1202C>A (n.*1202C>A) c.1885C>A (p.Arg629Ser) c.2146C>A (p.Arg716Ser) c.2245C>A (p.Arg749Ser) n.4431C>A c.352C>A (p.Arg118Ser) c.*1047C>A (n.*1047C>A) c.2128C>A (p.Arg710Ser) c.2251C>A (p.Arg751Ser) c.1984C>A (p.Arg662Ser) c.1978C>A (p.Arg660Ser) c.1861C>A (p.Arg621Ser) c.2239C>A (p.Arg747Ser) c.1972C>A (p.Arg658Ser) c.1180C>A (p.Arg394Ser) n.2425C>A | dbSNP |
8 | g.38414187G>A | CA460499302 | FGFR1 | c.2151C>T (p.His717=) c.2139C>T (p.His713=) n.3044C>T n.1391C>T n.841C>T c.2331C>T (p.His777=) n.2839C>T c.1872C>T (p.His624=) c.*1797C>T (n.*1797C>T) c.*2118C>T (n.*2118C>T) n.3645C>T c.1878C>T (p.His626=) c.2121C>T (p.His707=) c.*1201C>T (n.*1201C>T) c.1884C>T (p.His628=) c.2145C>T (p.His715=) c.2244C>T (p.His748=) n.4430C>T c.351C>T (p.His117=) c.*1046C>T (n.*1046C>T) c.2127C>T (p.His709=) c.2250C>T (p.His750=) c.1983C>T (p.His661=) c.1977C>T (p.His659=) c.1860C>T (p.His620=) c.2238C>T (p.His746=) c.1971C>T (p.His657=) c.1179C>T (p.His393=) n.2424C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.38414187G>C | CA370728525 | FGFR1 | c.2151C>G (p.His717Gln) c.2139C>G (p.His713Gln) n.3044C>G n.1391C>G n.841C>G c.2331C>G (p.His777Gln) n.2839C>G c.1872C>G (p.His624Gln) c.*1797C>G (n.*1797C>G) c.*2118C>G (n.*2118C>G) n.3645C>G c.1878C>G (p.His626Gln) c.2121C>G (p.His707Gln) c.*1201C>G (n.*1201C>G) c.1884C>G (p.His628Gln) c.2145C>G (p.His715Gln) c.2244C>G (p.His748Gln) n.4430C>G c.351C>G (p.His117Gln) c.*1046C>G (n.*1046C>G) c.2127C>G (p.His709Gln) c.2250C>G (p.His750Gln) c.1983C>G (p.His661Gln) c.1977C>G (p.His659Gln) c.1860C>G (p.His620Gln) c.2238C>G (p.His746Gln) c.1971C>G (p.His657Gln) c.1179C>G (p.His393Gln) n.2424C>G | dbSNP |
8 | g.38414187G= | CA1777533815 | FGFR1 | c.2151C= (p.His717=) c.2139C= (p.His713=) n.3044C= n.1391C= n.841C= c.2331C= (p.His777=) n.2839C= c.1872C= (p.His624=) c.*1797C= (n.*1797C=) c.*2118C= (n.*2118C=) n.3645C= c.1878C= (p.His626=) c.2121C= (p.His707=) c.*1201C= (n.*1201C=) c.1884C= (p.His628=) c.2145C= (p.His715=) c.2244C= (p.His748=) n.4430C= c.351C= (p.His117=) c.*1046C= (n.*1046C=) c.2127C= (p.His709=) c.2250C= (p.His750=) c.1983C= (p.His661=) c.1977C= (p.His659=) c.1860C= (p.His620=) c.2238C= (p.His746=) c.1971C= (p.His657=) c.1179C= (p.His393=) n.2424C= | |
8 | g.38414187G>T | CA370728523 | FGFR1 | c.2151C>A (p.His717Gln) c.2139C>A (p.His713Gln) n.3044C>A n.1391C>A n.841C>A c.2331C>A (p.His777Gln) n.2839C>A c.1872C>A (p.His624Gln) c.*1797C>A (n.*1797C>A) c.*2118C>A (n.*2118C>A) n.3645C>A c.1878C>A (p.His626Gln) c.2121C>A (p.His707Gln) c.*1201C>A (n.*1201C>A) c.1884C>A (p.His628Gln) c.2145C>A (p.His715Gln) c.2244C>A (p.His748Gln) n.4430C>A c.351C>A (p.His117Gln) c.*1046C>A (n.*1046C>A) c.2127C>A (p.His709Gln) c.2250C>A (p.His750Gln) c.1983C>A (p.His661Gln) c.1977C>A (p.His659Gln) c.1860C>A (p.His620Gln) c.2238C>A (p.His746Gln) c.1971C>A (p.His657Gln) c.1179C>A (p.His393Gln) n.2424C>A | |
8 | g.38414188T>A | CA370728528 | FGFR1 | c.2150A>T (p.His717Leu) c.2138A>T (p.His713Leu) n.3043A>T n.1390A>T n.840A>T c.2330A>T (p.His777Leu) n.2838A>T c.1871A>T (p.His624Leu) c.*1796A>T (n.*1796A>T) c.*2117A>T (n.*2117A>T) n.3644A>T c.1877A>T (p.His626Leu) c.2120A>T (p.His707Leu) c.*1200A>T (n.*1200A>T) c.1883A>T (p.His628Leu) c.2144A>T (p.His715Leu) c.2243A>T (p.His748Leu) n.4429A>T c.350A>T (p.His117Leu) c.*1045A>T (n.*1045A>T) c.2126A>T (p.His709Leu) c.2249A>T (p.His750Leu) c.1982A>T (p.His661Leu) c.1976A>T (p.His659Leu) c.1859A>T (p.His620Leu) c.2237A>T (p.His746Leu) c.1970A>T (p.His657Leu) c.1178A>T (p.His393Leu) n.2423A>T | dbSNP |
8 | g.38414188T>C | CA370728530 | FGFR1 | c.2150A>G (p.His717Arg) c.2138A>G (p.His713Arg) n.3043A>G n.1390A>G n.840A>G c.2330A>G (p.His777Arg) n.2838A>G c.1871A>G (p.His624Arg) c.*1796A>G (n.*1796A>G) c.*2117A>G (n.*2117A>G) n.3644A>G c.1877A>G (p.His626Arg) c.2120A>G (p.His707Arg) c.*1200A>G (n.*1200A>G) c.1883A>G (p.His628Arg) c.2144A>G (p.His715Arg) c.2243A>G (p.His748Arg) n.4429A>G c.350A>G (p.His117Arg) c.*1045A>G (n.*1045A>G) c.2126A>G (p.His709Arg) c.2249A>G (p.His750Arg) c.1982A>G (p.His661Arg) c.1976A>G (p.His659Arg) c.1859A>G (p.His620Arg) c.2237A>G (p.His746Arg) c.1970A>G (p.His657Arg) c.1178A>G (p.His393Arg) n.2423A>G | dbSNP gnomAD v2 |
8 | g.38414188T>G | CA370728532 | FGFR1 | c.2150A>C (p.His717Pro) c.2138A>C (p.His713Pro) n.3043A>C n.1390A>C n.840A>C c.2330A>C (p.His777Pro) n.2838A>C c.1871A>C (p.His624Pro) c.*1796A>C (n.*1796A>C) c.*2117A>C (n.*2117A>C) n.3644A>C c.1877A>C (p.His626Pro) c.2120A>C (p.His707Pro) c.*1200A>C (n.*1200A>C) c.1883A>C (p.His628Pro) c.2144A>C (p.His715Pro) c.2243A>C (p.His748Pro) n.4429A>C c.350A>C (p.His117Pro) c.*1045A>C (n.*1045A>C) c.2126A>C (p.His709Pro) c.2249A>C (p.His750Pro) c.1982A>C (p.His661Pro) c.1976A>C (p.His659Pro) c.1859A>C (p.His620Pro) c.2237A>C (p.His746Pro) c.1970A>C (p.His657Pro) c.1178A>C (p.His393Pro) n.2423A>C | dbSNP |
8 | g.38414188T= | CA1777533819 | FGFR1 | c.2150A= (p.His717=) c.2138A= (p.His713=) n.3043A= n.1390A= n.840A= c.2330A= (p.His777=) n.2838A= c.1871A= (p.His624=) c.*1796A= (n.*1796A=) c.*2117A= (n.*2117A=) n.3644A= c.1877A= (p.His626=) c.2120A= (p.His707=) c.*1200A= (n.*1200A=) c.1883A= (p.His628=) c.2144A= (p.His715=) c.2243A= (p.His748=) n.4429A= c.350A= (p.His117=) c.*1045A= (n.*1045A=) c.2126A= (p.His709=) c.2249A= (p.His750=) c.1982A= (p.His661=) c.1976A= (p.His659=) c.1859A= (p.His620=) c.2237A= (p.His746=) c.1970A= (p.His657=) c.1178A= (p.His393=) n.2423A= | |
8 | g.38414189G>A | CA370728535 | FGFR1 | c.2149C>T (p.His717Tyr) c.2137C>T (p.His713Tyr) n.3042C>T n.1389C>T n.839C>T c.2329C>T (p.His777Tyr) n.2837C>T c.1870C>T (p.His624Tyr) c.*1795C>T (n.*1795C>T) c.*2116C>T (n.*2116C>T) n.3643C>T c.1876C>T (p.His626Tyr) c.2119C>T (p.His707Tyr) c.*1199C>T (n.*1199C>T) c.1882C>T (p.His628Tyr) c.2143C>T (p.His715Tyr) c.2242C>T (p.His748Tyr) n.4428C>T c.349C>T (p.His117Tyr) c.*1044C>T (n.*1044C>T) c.2125C>T (p.His709Tyr) c.2248C>T (p.His750Tyr) c.1981C>T (p.His661Tyr) c.1975C>T (p.His659Tyr) c.1858C>T (p.His620Tyr) c.2236C>T (p.His746Tyr) c.1969C>T (p.His657Tyr) c.1177C>T (p.His393Tyr) n.2422C>T | dbSNP |
8 | g.38414189G>C | CA370728537 | FGFR1 | c.2149C>G (p.His717Asp) c.2137C>G (p.His713Asp) n.3042C>G n.1389C>G n.839C>G c.2329C>G (p.His777Asp) n.2837C>G c.1870C>G (p.His624Asp) c.*1795C>G (n.*1795C>G) c.*2116C>G (n.*2116C>G) n.3643C>G c.1876C>G (p.His626Asp) c.2119C>G (p.His707Asp) c.*1199C>G (n.*1199C>G) c.1882C>G (p.His628Asp) c.2143C>G (p.His715Asp) c.2242C>G (p.His748Asp) n.4428C>G c.349C>G (p.His117Asp) c.*1044C>G (n.*1044C>G) c.2125C>G (p.His709Asp) c.2248C>G (p.His750Asp) c.1981C>G (p.His661Asp) c.1975C>G (p.His659Asp) c.1858C>G (p.His620Asp) c.2236C>G (p.His746Asp) c.1969C>G (p.His657Asp) c.1177C>G (p.His393Asp) n.2422C>G | dbSNP |
8 | g.38414189G>T | CA370728540 | FGFR1 | c.2149C>A (p.His717Asn) c.2137C>A (p.His713Asn) n.3042C>A n.1389C>A n.839C>A c.2329C>A (p.His777Asn) n.2837C>A c.1870C>A (p.His624Asn) c.*1795C>A (n.*1795C>A) c.*2116C>A (n.*2116C>A) n.3643C>A c.1876C>A (p.His626Asn) c.2119C>A (p.His707Asn) c.*1199C>A (n.*1199C>A) c.1882C>A (p.His628Asn) c.2143C>A (p.His715Asn) c.2242C>A (p.His748Asn) n.4428C>A c.349C>A (p.His117Asn) c.*1044C>A (n.*1044C>A) c.2125C>A (p.His709Asn) c.2248C>A (p.His750Asn) c.1981C>A (p.His661Asn) c.1975C>A (p.His659Asn) c.1858C>A (p.His620Asn) c.2236C>A (p.His746Asn) c.1969C>A (p.His657Asn) c.1177C>A (p.His393Asn) n.2422C>A | |
8 | g.38414190del | CA2739289501 | FGFR1 | c.2148del (p.His717ThrfsTer15) c.2136del (p.His713ThrfsTer15) n.3041del n.1388del n.838del c.2328del (p.His777ThrfsTer15) n.2836del c.1869del (p.His624ThrfsTer15) c.*1794del (n.*1794del) c.*2115del (n.*2115del) n.3642del c.1875del (p.His626ThrfsTer15) c.2118del (p.His707ThrfsTer15) c.*1198del (n.*1198del) c.1881del (p.His628ThrfsTer15) c.2142del (p.His715ThrfsTer15) c.2241del (p.His748ThrfsTer15) n.4427del c.348del (p.His117ThrfsTer?) c.*1043del (n.*1043del) c.2124del (p.His709ThrfsTer15) c.2247del (p.His750ThrfsTer15) c.1980del (p.His661ThrfsTer15) c.1974del (p.His659ThrfsTer15) c.1857del (p.His620ThrfsTer15) c.2235del (p.His746ThrfsTer15) c.1968del (p.His657ThrfsTer15) c.1176del (p.His393ThrfsTer15) n.2421del | |
8 | g.38414190A>C | CA460499309 | FGFR1 | c.2148T>G (p.Gly716=) c.2136T>G (p.Gly712=) n.3041T>G n.1388T>G n.838T>G c.2328T>G (p.Gly776=) n.2836T>G c.1869T>G (p.Gly623=) c.*1794T>G (n.*1794T>G) c.*2115T>G (n.*2115T>G) n.3642T>G c.1875T>G (p.Gly625=) c.2118T>G (p.Gly706=) c.*1198T>G (n.*1198T>G) c.1881T>G (p.Gly627=) c.2142T>G (p.Gly714=) c.2241T>G (p.Gly747=) n.4427T>G c.348T>G (p.Gly116=) c.*1043T>G (n.*1043T>G) c.2124T>G (p.Gly708=) c.2247T>G (p.Gly749=) c.1980T>G (p.Gly660=) c.1974T>G (p.Gly658=) c.1857T>G (p.Gly619=) c.2235T>G (p.Gly745=) c.1968T>G (p.Gly656=) c.1176T>G (p.Gly392=) n.2421T>G | dbSNP |
8 | g.38414190A>G | CA460499310 | FGFR1 | c.2148T>C (p.Gly716=) c.2136T>C (p.Gly712=) n.3041T>C n.1388T>C n.838T>C c.2328T>C (p.Gly776=) n.2836T>C c.1869T>C (p.Gly623=) c.*1794T>C (n.*1794T>C) c.*2115T>C (n.*2115T>C) n.3642T>C c.1875T>C (p.Gly625=) c.2118T>C (p.Gly706=) c.*1198T>C (n.*1198T>C) c.1881T>C (p.Gly627=) c.2142T>C (p.Gly714=) c.2241T>C (p.Gly747=) n.4427T>C c.348T>C (p.Gly116=) c.*1043T>C (n.*1043T>C) c.2124T>C (p.Gly708=) c.2247T>C (p.Gly749=) c.1980T>C (p.Gly660=) c.1974T>C (p.Gly658=) c.1857T>C (p.Gly619=) c.2235T>C (p.Gly745=) c.1968T>C (p.Gly656=) c.1176T>C (p.Gly392=) n.2421T>C | dbSNP |
8 | g.38414190A>T | CA460499313 | FGFR1 | c.2148T>A (p.Gly716=) c.2136T>A (p.Gly712=) n.3041T>A n.1388T>A n.838T>A c.2328T>A (p.Gly776=) n.2836T>A c.1869T>A (p.Gly623=) c.*1794T>A (n.*1794T>A) c.*2115T>A (n.*2115T>A) n.3642T>A c.1875T>A (p.Gly625=) c.2118T>A (p.Gly706=) c.*1198T>A (n.*1198T>A) c.1881T>A (p.Gly627=) c.2142T>A (p.Gly714=) c.2241T>A (p.Gly747=) n.4427T>A c.348T>A (p.Gly116=) c.*1043T>A (n.*1043T>A) c.2124T>A (p.Gly708=) c.2247T>A (p.Gly749=) c.1980T>A (p.Gly660=) c.1974T>A (p.Gly658=) c.1857T>A (p.Gly619=) c.2235T>A (p.Gly745=) c.1968T>A (p.Gly656=) c.1176T>A (p.Gly392=) n.2421T>A | dbSNP |
8 | g.38414191C>A | CA370728543 | FGFR1 | c.2147G>T (p.Gly716Val) c.2135G>T (p.Gly712Val) n.3040G>T n.1387G>T n.837G>T c.2327G>T (p.Gly776Val) n.2835G>T c.1868G>T (p.Gly623Val) c.*1793G>T (n.*1793G>T) c.*2114G>T (n.*2114G>T) n.3641G>T c.1874G>T (p.Gly625Val) c.2117G>T (p.Gly706Val) c.*1197G>T (n.*1197G>T) c.1880G>T (p.Gly627Val) c.2141G>T (p.Gly714Val) c.2240G>T (p.Gly747Val) n.4426G>T c.347G>T (p.Gly116Val) c.*1042G>T (n.*1042G>T) c.2123G>T (p.Gly708Val) c.2246G>T (p.Gly749Val) c.1979G>T (p.Gly660Val) c.1973G>T (p.Gly658Val) c.1856G>T (p.Gly619Val) c.2234G>T (p.Gly745Val) c.1967G>T (p.Gly656Val) c.1175G>T (p.Gly392Val) n.2420G>T | dbSNP |
8 | g.38414191C>G | CA370728547 | FGFR1 | c.2147G>C (p.Gly716Ala) c.2135G>C (p.Gly712Ala) n.3040G>C n.1387G>C n.837G>C c.2327G>C (p.Gly776Ala) n.2835G>C c.1868G>C (p.Gly623Ala) c.*1793G>C (n.*1793G>C) c.*2114G>C (n.*2114G>C) n.3641G>C c.1874G>C (p.Gly625Ala) c.2117G>C (p.Gly706Ala) c.*1197G>C (n.*1197G>C) c.1880G>C (p.Gly627Ala) c.2141G>C (p.Gly714Ala) c.2240G>C (p.Gly747Ala) n.4426G>C c.347G>C (p.Gly116Ala) c.*1042G>C (n.*1042G>C) c.2123G>C (p.Gly708Ala) c.2246G>C (p.Gly749Ala) c.1979G>C (p.Gly660Ala) c.1973G>C (p.Gly658Ala) c.1856G>C (p.Gly619Ala) c.2234G>C (p.Gly745Ala) c.1967G>C (p.Gly656Ala) c.1175G>C (p.Gly392Ala) n.2420G>C | dbSNP |
8 | g.38414191C>T | CA370728545 | FGFR1 | c.2147G>A (p.Gly716Asp) c.2135G>A (p.Gly712Asp) n.3040G>A n.1387G>A n.837G>A c.2327G>A (p.Gly776Asp) n.2835G>A c.1868G>A (p.Gly623Asp) c.*1793G>A (n.*1793G>A) c.*2114G>A (n.*2114G>A) n.3641G>A c.1874G>A (p.Gly625Asp) c.2117G>A (p.Gly706Asp) c.*1197G>A (n.*1197G>A) c.1880G>A (p.Gly627Asp) c.2141G>A (p.Gly714Asp) c.2240G>A (p.Gly747Asp) n.4426G>A c.347G>A (p.Gly116Asp) c.*1042G>A (n.*1042G>A) c.2123G>A (p.Gly708Asp) c.2246G>A (p.Gly749Asp) c.1979G>A (p.Gly660Asp) c.1973G>A (p.Gly658Asp) c.1856G>A (p.Gly619Asp) c.2234G>A (p.Gly745Asp) c.1967G>A (p.Gly656Asp) c.1175G>A (p.Gly392Asp) n.2420G>A | gnomAD v4 |
8 | g.38414192C>A | CA370728550 | FGFR1 | c.2146G>T (p.Gly716Cys) c.2134G>T (p.Gly712Cys) n.3039G>T n.1386G>T n.836G>T c.2326G>T (p.Gly776Cys) n.2834G>T c.1867G>T (p.Gly623Cys) c.*1792G>T (n.*1792G>T) c.*2113G>T (n.*2113G>T) n.3640G>T c.1873G>T (p.Gly625Cys) c.2116G>T (p.Gly706Cys) c.*1196G>T (n.*1196G>T) c.1879G>T (p.Gly627Cys) c.2140G>T (p.Gly714Cys) c.2239G>T (p.Gly747Cys) n.4425G>T c.346G>T (p.Gly116Cys) c.*1041G>T (n.*1041G>T) c.2122G>T (p.Gly708Cys) c.2245G>T (p.Gly749Cys) c.1978G>T (p.Gly660Cys) c.1972G>T (p.Gly658Cys) c.1855G>T (p.Gly619Cys) c.2233G>T (p.Gly745Cys) c.1966G>T (p.Gly656Cys) c.1174G>T (p.Gly392Cys) n.2419G>T | ClinVar dbSNP |
8 | g.38414192C>G | CA370728551 | FGFR1 | c.2146G>C (p.Gly716Arg) c.2134G>C (p.Gly712Arg) n.3039G>C n.1386G>C n.836G>C c.2326G>C (p.Gly776Arg) n.2834G>C c.1867G>C (p.Gly623Arg) c.*1792G>C (n.*1792G>C) c.*2113G>C (n.*2113G>C) n.3640G>C c.1873G>C (p.Gly625Arg) c.2116G>C (p.Gly706Arg) c.*1196G>C (n.*1196G>C) c.1879G>C (p.Gly627Arg) c.2140G>C (p.Gly714Arg) c.2239G>C (p.Gly747Arg) n.4425G>C c.346G>C (p.Gly116Arg) c.*1041G>C (n.*1041G>C) c.2122G>C (p.Gly708Arg) c.2245G>C (p.Gly749Arg) c.1978G>C (p.Gly660Arg) c.1972G>C (p.Gly658Arg) c.1855G>C (p.Gly619Arg) c.2233G>C (p.Gly745Arg) c.1966G>C (p.Gly656Arg) c.1174G>C (p.Gly392Arg) n.2419G>C | dbSNP |
8 | g.38414192C>T | CA370728553 | FGFR1 | c.2146G>A (p.Gly716Ser) c.2134G>A (p.Gly712Ser) n.3039G>A n.1386G>A n.836G>A c.2326G>A (p.Gly776Ser) n.2834G>A c.1867G>A (p.Gly623Ser) c.*1792G>A (n.*1792G>A) c.*2113G>A (n.*2113G>A) n.3640G>A c.1873G>A (p.Gly625Ser) c.2116G>A (p.Gly706Ser) c.*1196G>A (n.*1196G>A) c.1879G>A (p.Gly627Ser) c.2140G>A (p.Gly714Ser) c.2239G>A (p.Gly747Ser) n.4425G>A c.346G>A (p.Gly116Ser) c.*1041G>A (n.*1041G>A) c.2122G>A (p.Gly708Ser) c.2245G>A (p.Gly749Ser) c.1978G>A (p.Gly660Ser) c.1972G>A (p.Gly658Ser) c.1855G>A (p.Gly619Ser) c.2233G>A (p.Gly745Ser) c.1966G>A (p.Gly656Ser) c.1174G>A (p.Gly392Ser) n.2419G>A | dbSNP gnomAD v4 |
8 | g.38414193C>A | CA4718171 | FGFR1 | c.2145G>T (p.Glu715Asp) c.2133G>T (p.Glu711Asp) n.3038G>T n.1385G>T n.835G>T c.2325G>T (p.Glu775Asp) n.2833G>T c.1866G>T (p.Glu622Asp) c.*1791G>T (n.*1791G>T) c.*2112G>T (n.*2112G>T) n.3639G>T c.1872G>T (p.Glu624Asp) c.2115G>T (p.Glu705Asp) c.*1195G>T (n.*1195G>T) c.1878G>T (p.Glu626Asp) c.2139G>T (p.Glu713Asp) c.2238G>T (p.Glu746Asp) n.4424G>T c.345G>T (p.Glu115Asp) c.*1040G>T (n.*1040G>T) c.2121G>T (p.Glu707Asp) c.2244G>T (p.Glu748Asp) c.1977G>T (p.Glu659Asp) c.1971G>T (p.Glu657Asp) c.1854G>T (p.Glu618Asp) c.2232G>T (p.Glu744Asp) c.1965G>T (p.Glu655Asp) c.1173G>T (p.Glu391Asp) n.2418G>T | dbSNP ExAC gnomAD v2 |
8 | g.38414193C= | CA1777533824 | FGFR1 | c.2145G= (p.Glu715=) c.2133G= (p.Glu711=) n.3038G= n.1385G= n.835G= c.2325G= (p.Glu775=) n.2833G= c.1866G= (p.Glu622=) c.*1791G= (n.*1791G=) c.*2112G= (n.*2112G=) n.3639G= c.1872G= (p.Glu624=) c.2115G= (p.Glu705=) c.*1195G= (n.*1195G=) c.1878G= (p.Glu626=) c.2139G= (p.Glu713=) c.2238G= (p.Glu746=) n.4424G= c.345G= (p.Glu115=) c.*1040G= (n.*1040G=) c.2121G= (p.Glu707=) c.2244G= (p.Glu748=) c.1977G= (p.Glu659=) c.1971G= (p.Glu657=) c.1854G= (p.Glu618=) c.2232G= (p.Glu744=) c.1965G= (p.Glu655=) c.1173G= (p.Glu391=) n.2418G= | |
8 | g.38414193C>G | CA370728557 | FGFR1 | c.2145G>C (p.Glu715Asp) c.2133G>C (p.Glu711Asp) n.3038G>C n.1385G>C n.835G>C c.2325G>C (p.Glu775Asp) n.2833G>C c.1866G>C (p.Glu622Asp) c.*1791G>C (n.*1791G>C) c.*2112G>C (n.*2112G>C) n.3639G>C c.1872G>C (p.Glu624Asp) c.2115G>C (p.Glu705Asp) c.*1195G>C (n.*1195G>C) c.1878G>C (p.Glu626Asp) c.2139G>C (p.Glu713Asp) c.2238G>C (p.Glu746Asp) n.4424G>C c.345G>C (p.Glu115Asp) c.*1040G>C (n.*1040G>C) c.2121G>C (p.Glu707Asp) c.2244G>C (p.Glu748Asp) c.1977G>C (p.Glu659Asp) c.1971G>C (p.Glu657Asp) c.1854G>C (p.Glu618Asp) c.2232G>C (p.Glu744Asp) c.1965G>C (p.Glu655Asp) c.1173G>C (p.Glu391Asp) n.2418G>C | dbSNP |
8 | g.38414193C>T | CA175138274 | FGFR1 | c.2145G>A (p.Glu715=) c.2133G>A (p.Glu711=) n.3038G>A n.1385G>A n.835G>A c.2325G>A (p.Glu775=) n.2833G>A c.1866G>A (p.Glu622=) c.*1791G>A (n.*1791G>A) c.*2112G>A (n.*2112G>A) n.3639G>A c.1872G>A (p.Glu624=) c.2115G>A (p.Glu705=) c.*1195G>A (n.*1195G>A) c.1878G>A (p.Glu626=) c.2139G>A (p.Glu713=) c.2238G>A (p.Glu746=) n.4424G>A c.345G>A (p.Glu115=) c.*1040G>A (n.*1040G>A) c.2121G>A (p.Glu707=) c.2244G>A (p.Glu748=) c.1977G>A (p.Glu659=) c.1971G>A (p.Glu657=) c.1854G>A (p.Glu618=) c.2232G>A (p.Glu744=) c.1965G>A (p.Glu655=) c.1173G>A (p.Glu391=) n.2418G>A | dbSNP gnomAD v4 |
8 | g.38414194T>A | CA370728560 | FGFR1 | c.2144A>T (p.Glu715Val) c.2132A>T (p.Glu711Val) n.3037A>T n.1384A>T n.834A>T c.2324A>T (p.Glu775Val) n.2832A>T c.1865A>T (p.Glu622Val) c.*1790A>T (n.*1790A>T) c.*2111A>T (n.*2111A>T) n.3638A>T c.1871A>T (p.Glu624Val) c.2114A>T (p.Glu705Val) c.*1194A>T (n.*1194A>T) c.1877A>T (p.Glu626Val) c.2138A>T (p.Glu713Val) c.2237A>T (p.Glu746Val) n.4423A>T c.344A>T (p.Glu115Val) c.*1039A>T (n.*1039A>T) c.2120A>T (p.Glu707Val) c.2243A>T (p.Glu748Val) c.1976A>T (p.Glu659Val) c.1970A>T (p.Glu657Val) c.1853A>T (p.Glu618Val) c.2231A>T (p.Glu744Val) c.1964A>T (p.Glu655Val) c.1172A>T (p.Glu391Val) n.2417A>T | dbSNP |
8 | g.38414194T>C | CA370728562 | FGFR1 | c.2144A>G (p.Glu715Gly) c.2132A>G (p.Glu711Gly) n.3037A>G n.1384A>G n.834A>G c.2324A>G (p.Glu775Gly) n.2832A>G c.1865A>G (p.Glu622Gly) c.*1790A>G (n.*1790A>G) c.*2111A>G (n.*2111A>G) n.3638A>G c.1871A>G (p.Glu624Gly) c.2114A>G (p.Glu705Gly) c.*1194A>G (n.*1194A>G) c.1877A>G (p.Glu626Gly) c.2138A>G (p.Glu713Gly) c.2237A>G (p.Glu746Gly) n.4423A>G c.344A>G (p.Glu115Gly) c.*1039A>G (n.*1039A>G) c.2120A>G (p.Glu707Gly) c.2243A>G (p.Glu748Gly) c.1976A>G (p.Glu659Gly) c.1970A>G (p.Glu657Gly) c.1853A>G (p.Glu618Gly) c.2231A>G (p.Glu744Gly) c.1964A>G (p.Glu655Gly) c.1172A>G (p.Glu391Gly) n.2417A>G | dbSNP |
8 | g.38414194T>G | CA370728564 | FGFR1 | c.2144A>C (p.Glu715Ala) c.2132A>C (p.Glu711Ala) n.3037A>C n.1384A>C n.834A>C c.2324A>C (p.Glu775Ala) n.2832A>C c.1865A>C (p.Glu622Ala) c.*1790A>C (n.*1790A>C) c.*2111A>C (n.*2111A>C) n.3638A>C c.1871A>C (p.Glu624Ala) c.2114A>C (p.Glu705Ala) c.*1194A>C (n.*1194A>C) c.1877A>C (p.Glu626Ala) c.2138A>C (p.Glu713Ala) c.2237A>C (p.Glu746Ala) n.4423A>C c.344A>C (p.Glu115Ala) c.*1039A>C (n.*1039A>C) c.2120A>C (p.Glu707Ala) c.2243A>C (p.Glu748Ala) c.1976A>C (p.Glu659Ala) c.1970A>C (p.Glu657Ala) c.1853A>C (p.Glu618Ala) c.2231A>C (p.Glu744Ala) c.1964A>C (p.Glu655Ala) c.1172A>C (p.Glu391Ala) n.2417A>C | |
8 | g.38414195C>A | CA370728567 | FGFR1 | c.2143G>T (p.Glu715Ter) c.2131G>T (p.Glu711Ter) n.3036G>T n.1383G>T n.833G>T c.2323G>T (p.Glu775Ter) n.2831G>T c.1864G>T (p.Glu622Ter) c.*1789G>T (n.*1789G>T) c.*2110G>T (n.*2110G>T) n.3637G>T c.1870G>T (p.Glu624Ter) c.2113G>T (p.Glu705Ter) c.*1193G>T (n.*1193G>T) c.1876G>T (p.Glu626Ter) c.2137G>T (p.Glu713Ter) c.2236G>T (p.Glu746Ter) n.4422G>T c.343G>T (p.Glu115Ter) c.*1038G>T (n.*1038G>T) c.2119G>T (p.Glu707Ter) c.2242G>T (p.Glu748Ter) c.1975G>T (p.Glu659Ter) c.1969G>T (p.Glu657Ter) c.1852G>T (p.Glu618Ter) c.2230G>T (p.Glu744Ter) c.1963G>T (p.Glu655Ter) c.1171G>T (p.Glu391Ter) n.2416G>T | dbSNP |
8 | g.38414195C>G | CA370728569 | FGFR1 | c.2143G>C (p.Glu715Gln) c.2131G>C (p.Glu711Gln) n.3036G>C n.1383G>C n.833G>C c.2323G>C (p.Glu775Gln) n.2831G>C c.1864G>C (p.Glu622Gln) c.*1789G>C (n.*1789G>C) c.*2110G>C (n.*2110G>C) n.3637G>C c.1870G>C (p.Glu624Gln) c.2113G>C (p.Glu705Gln) c.*1193G>C (n.*1193G>C) c.1876G>C (p.Glu626Gln) c.2137G>C (p.Glu713Gln) c.2236G>C (p.Glu746Gln) n.4422G>C c.343G>C (p.Glu115Gln) c.*1038G>C (n.*1038G>C) c.2119G>C (p.Glu707Gln) c.2242G>C (p.Glu748Gln) c.1975G>C (p.Glu659Gln) c.1969G>C (p.Glu657Gln) c.1852G>C (p.Glu618Gln) c.2230G>C (p.Glu744Gln) c.1963G>C (p.Glu655Gln) c.1171G>C (p.Glu391Gln) n.2416G>C | dbSNP |
8 | g.38414195C>T | CA370728571 | FGFR1 | c.2143G>A (p.Glu715Lys) c.2131G>A (p.Glu711Lys) n.3036G>A n.1383G>A n.833G>A c.2323G>A (p.Glu775Lys) n.2831G>A c.1864G>A (p.Glu622Lys) c.*1789G>A (n.*1789G>A) c.*2110G>A (n.*2110G>A) n.3637G>A c.1870G>A (p.Glu624Lys) c.2113G>A (p.Glu705Lys) c.*1193G>A (n.*1193G>A) c.1876G>A (p.Glu626Lys) c.2137G>A (p.Glu713Lys) c.2236G>A (p.Glu746Lys) n.4422G>A c.343G>A (p.Glu115Lys) c.*1038G>A (n.*1038G>A) c.2119G>A (p.Glu707Lys) c.2242G>A (p.Glu748Lys) c.1975G>A (p.Glu659Lys) c.1969G>A (p.Glu657Lys) c.1852G>A (p.Glu618Lys) c.2230G>A (p.Glu744Lys) c.1963G>A (p.Glu655Lys) c.1171G>A (p.Glu391Lys) n.2416G>A | dbSNP |
8 | g.38414196del | CA2695209139 | FGFR1 | c.2143del (p.Glu715ArgfsTer17) c.2131del (p.Glu711ArgfsTer17) n.3036del n.1383del n.833del c.2323del (p.Glu775ArgfsTer17) n.2831del c.1864del (p.Glu622ArgfsTer17) c.*1789del (n.*1789del) c.*2110del (n.*2110del) n.3637del c.1870del (p.Glu624ArgfsTer17) c.2113del (p.Glu705ArgfsTer17) c.*1193del (n.*1193del) c.1876del (p.Glu626ArgfsTer17) c.2137del (p.Glu713ArgfsTer17) c.2236del (p.Glu746ArgfsTer17) n.4422del c.343del (p.Glu115ArgfsTer?) c.*1038del (n.*1038del) c.2119del (p.Glu707ArgfsTer17) c.2242del (p.Glu748ArgfsTer17) c.1975del (p.Glu659ArgfsTer17) c.1969del (p.Glu657ArgfsTer17) c.1852del (p.Glu618ArgfsTer17) c.2230del (p.Glu744ArgfsTer17) c.1963del (p.Glu655ArgfsTer17) c.1171del (p.Glu391ArgfsTer17) n.2416del | |
8 | g.38414196C>A | CA370728574 | FGFR1 | c.2142G>T (p.Lys714Asn) c.2130G>T (p.Lys710Asn) n.3035G>T n.1382G>T n.832G>T c.2322G>T (p.Lys774Asn) n.2830G>T c.1863G>T (p.Lys621Asn) c.*1788G>T (n.*1788G>T) c.*2109G>T (n.*2109G>T) n.3636G>T c.1869G>T (p.Lys623Asn) c.2112G>T (p.Lys704Asn) c.*1192G>T (n.*1192G>T) c.1875G>T (p.Lys625Asn) c.2136G>T (p.Lys712Asn) c.2235G>T (p.Lys745Asn) n.4421G>T c.342G>T (p.Lys114Asn) c.*1037G>T (n.*1037G>T) c.2118G>T (p.Lys706Asn) c.2241G>T (p.Lys747Asn) c.1974G>T (p.Lys658Asn) c.1968G>T (p.Lys656Asn) c.1851G>T (p.Lys617Asn) c.2229G>T (p.Lys743Asn) c.1962G>T (p.Lys654Asn) c.1170G>T (p.Lys390Asn) n.2415G>T | dbSNP |
8 | g.38414196C>G | CA370728576 | FGFR1 | c.2142G>C (p.Lys714Asn) c.2130G>C (p.Lys710Asn) n.3035G>C n.1382G>C n.832G>C c.2322G>C (p.Lys774Asn) n.2830G>C c.1863G>C (p.Lys621Asn) c.*1788G>C (n.*1788G>C) c.*2109G>C (n.*2109G>C) n.3636G>C c.1869G>C (p.Lys623Asn) c.2112G>C (p.Lys704Asn) c.*1192G>C (n.*1192G>C) c.1875G>C (p.Lys625Asn) c.2136G>C (p.Lys712Asn) c.2235G>C (p.Lys745Asn) n.4421G>C c.342G>C (p.Lys114Asn) c.*1037G>C (n.*1037G>C) c.2118G>C (p.Lys706Asn) c.2241G>C (p.Lys747Asn) c.1974G>C (p.Lys658Asn) c.1968G>C (p.Lys656Asn) c.1851G>C (p.Lys617Asn) c.2229G>C (p.Lys743Asn) c.1962G>C (p.Lys654Asn) c.1170G>C (p.Lys390Asn) n.2415G>C | dbSNP |
8 | g.38414196C>T | CA460499324 | FGFR1 | c.2142G>A (p.Lys714=) c.2130G>A (p.Lys710=) n.3035G>A n.1382G>A n.832G>A c.2322G>A (p.Lys774=) n.2830G>A c.1863G>A (p.Lys621=) c.*1788G>A (n.*1788G>A) c.*2109G>A (n.*2109G>A) n.3636G>A c.1869G>A (p.Lys623=) c.2112G>A (p.Lys704=) c.*1192G>A (n.*1192G>A) c.1875G>A (p.Lys625=) c.2136G>A (p.Lys712=) c.2235G>A (p.Lys745=) n.4421G>A c.342G>A (p.Lys114=) c.*1037G>A (n.*1037G>A) c.2118G>A (p.Lys706=) c.2241G>A (p.Lys747=) c.1974G>A (p.Lys658=) c.1968G>A (p.Lys656=) c.1851G>A (p.Lys617=) c.2229G>A (p.Lys743=) c.1962G>A (p.Lys654=) c.1170G>A (p.Lys390=) n.2415G>A | dbSNP |
8 | g.38414197T>A | CA370728580 | FGFR1 | c.2141A>T (p.Lys714Met) c.2129A>T (p.Lys710Met) n.3034A>T n.1381A>T n.831A>T c.2321A>T (p.Lys774Met) n.2829A>T c.1862A>T (p.Lys621Met) c.*1787A>T (n.*1787A>T) c.*2108A>T (n.*2108A>T) n.3635A>T c.1868A>T (p.Lys623Met) c.2111A>T (p.Lys704Met) c.*1191A>T (n.*1191A>T) c.1874A>T (p.Lys625Met) c.2135A>T (p.Lys712Met) c.2234A>T (p.Lys745Met) n.4420A>T c.341A>T (p.Lys114Met) c.*1036A>T (n.*1036A>T) c.2117A>T (p.Lys706Met) c.2240A>T (p.Lys747Met) c.1973A>T (p.Lys658Met) c.1967A>T (p.Lys656Met) c.1850A>T (p.Lys617Met) c.2228A>T (p.Lys743Met) c.1961A>T (p.Lys654Met) c.1169A>T (p.Lys390Met) n.2414A>T | dbSNP |
8 | g.38414197T>C | CA4718172 | FGFR1 | c.2141A>G (p.Lys714Arg) c.2129A>G (p.Lys710Arg) n.3034A>G n.1381A>G n.831A>G c.2321A>G (p.Lys774Arg) n.2829A>G c.1862A>G (p.Lys621Arg) c.*1787A>G (n.*1787A>G) c.*2108A>G (n.*2108A>G) n.3635A>G c.1868A>G (p.Lys623Arg) c.2111A>G (p.Lys704Arg) c.*1191A>G (n.*1191A>G) c.1874A>G (p.Lys625Arg) c.2135A>G (p.Lys712Arg) c.2234A>G (p.Lys745Arg) n.4420A>G c.341A>G (p.Lys114Arg) c.*1036A>G (n.*1036A>G) c.2117A>G (p.Lys706Arg) c.2240A>G (p.Lys747Arg) c.1973A>G (p.Lys658Arg) c.1967A>G (p.Lys656Arg) c.1850A>G (p.Lys617Arg) c.2228A>G (p.Lys743Arg) c.1961A>G (p.Lys654Arg) c.1169A>G (p.Lys390Arg) n.2414A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38414197T>G | CA370728578 | FGFR1 | c.2141A>C (p.Lys714Thr) c.2129A>C (p.Lys710Thr) n.3034A>C n.1381A>C n.831A>C c.2321A>C (p.Lys774Thr) n.2829A>C c.1862A>C (p.Lys621Thr) c.*1787A>C (n.*1787A>C) c.*2108A>C (n.*2108A>C) n.3635A>C c.1868A>C (p.Lys623Thr) c.2111A>C (p.Lys704Thr) c.*1191A>C (n.*1191A>C) c.1874A>C (p.Lys625Thr) c.2135A>C (p.Lys712Thr) c.2234A>C (p.Lys745Thr) n.4420A>C c.341A>C (p.Lys114Thr) c.*1036A>C (n.*1036A>C) c.2117A>C (p.Lys706Thr) c.2240A>C (p.Lys747Thr) c.1973A>C (p.Lys658Thr) c.1967A>C (p.Lys656Thr) c.1850A>C (p.Lys617Thr) c.2228A>C (p.Lys743Thr) c.1961A>C (p.Lys654Thr) c.1169A>C (p.Lys390Thr) n.2414A>C | |
8 | g.38414197T= | CA1777533827 | FGFR1 | c.2141A= (p.Lys714=) c.2129A= (p.Lys710=) n.3034A= n.1381A= n.831A= c.2321A= (p.Lys774=) n.2829A= c.1862A= (p.Lys621=) c.*1787A= (n.*1787A=) c.*2108A= (n.*2108A=) n.3635A= c.1868A= (p.Lys623=) c.2111A= (p.Lys704=) c.*1191A= (n.*1191A=) c.1874A= (p.Lys625=) c.2135A= (p.Lys712=) c.2234A= (p.Lys745=) n.4420A= c.341A= (p.Lys114=) c.*1036A= (n.*1036A=) c.2117A= (p.Lys706=) c.2240A= (p.Lys747=) c.1973A= (p.Lys658=) c.1967A= (p.Lys656=) c.1850A= (p.Lys617=) c.2228A= (p.Lys743=) c.1961A= (p.Lys654=) c.1169A= (p.Lys390=) n.2414A= | |
8 | g.38414198T>A | CA370728586 | FGFR1 | c.2140A>T (p.Lys714Ter) c.2128A>T (p.Lys710Ter) n.3033A>T n.1380A>T n.830A>T c.2320A>T (p.Lys774Ter) n.2828A>T c.1861A>T (p.Lys621Ter) c.*1786A>T (n.*1786A>T) c.*2107A>T (n.*2107A>T) n.3634A>T c.1867A>T (p.Lys623Ter) c.2110A>T (p.Lys704Ter) c.*1190A>T (n.*1190A>T) c.1873A>T (p.Lys625Ter) c.2134A>T (p.Lys712Ter) c.2233A>T (p.Lys745Ter) n.4419A>T c.340A>T (p.Lys114Ter) c.*1035A>T (n.*1035A>T) c.2116A>T (p.Lys706Ter) c.2239A>T (p.Lys747Ter) c.1972A>T (p.Lys658Ter) c.1966A>T (p.Lys656Ter) c.1849A>T (p.Lys617Ter) c.2227A>T (p.Lys743Ter) c.1960A>T (p.Lys654Ter) c.1168A>T (p.Lys390Ter) n.2413A>T | dbSNP |
8 | g.38414198T>C | CA370728584 | FGFR1 | c.2140A>G (p.Lys714Glu) c.2128A>G (p.Lys710Glu) n.3033A>G n.1380A>G n.830A>G c.2320A>G (p.Lys774Glu) n.2828A>G c.1861A>G (p.Lys621Glu) c.*1786A>G (n.*1786A>G) c.*2107A>G (n.*2107A>G) n.3634A>G c.1867A>G (p.Lys623Glu) c.2110A>G (p.Lys704Glu) c.*1190A>G (n.*1190A>G) c.1873A>G (p.Lys625Glu) c.2134A>G (p.Lys712Glu) c.2233A>G (p.Lys745Glu) n.4419A>G c.340A>G (p.Lys114Glu) c.*1035A>G (n.*1035A>G) c.2116A>G (p.Lys706Glu) c.2239A>G (p.Lys747Glu) c.1972A>G (p.Lys658Glu) c.1966A>G (p.Lys656Glu) c.1849A>G (p.Lys617Glu) c.2227A>G (p.Lys743Glu) c.1960A>G (p.Lys654Glu) c.1168A>G (p.Lys390Glu) n.2413A>G | |
8 | g.38414198T>G | CA370728588 | FGFR1 | c.2140A>C (p.Lys714Gln) c.2128A>C (p.Lys710Gln) n.3033A>C n.1380A>C n.830A>C c.2320A>C (p.Lys774Gln) n.2828A>C c.1861A>C (p.Lys621Gln) c.*1786A>C (n.*1786A>C) c.*2107A>C (n.*2107A>C) n.3634A>C c.1867A>C (p.Lys623Gln) c.2110A>C (p.Lys704Gln) c.*1190A>C (n.*1190A>C) c.1873A>C (p.Lys625Gln) c.2134A>C (p.Lys712Gln) c.2233A>C (p.Lys745Gln) n.4419A>C c.340A>C (p.Lys114Gln) c.*1035A>C (n.*1035A>C) c.2116A>C (p.Lys706Gln) c.2239A>C (p.Lys747Gln) c.1972A>C (p.Lys658Gln) c.1966A>C (p.Lys656Gln) c.1849A>C (p.Lys617Gln) c.2227A>C (p.Lys743Gln) c.1960A>C (p.Lys654Gln) c.1168A>C (p.Lys390Gln) n.2413A>C | |
8 | g.38414199C>A | CA460499331 | FGFR1 | c.2139G>T (p.Leu713=) c.2127G>T (p.Leu709=) n.3032G>T n.1379G>T n.829G>T c.2319G>T (p.Leu773=) n.2827G>T c.1860G>T (p.Leu620=) c.*1785G>T (n.*1785G>T) c.*2106G>T (n.*2106G>T) n.3633G>T c.1866G>T (p.Leu622=) c.2109G>T (p.Leu703=) c.*1189G>T (n.*1189G>T) c.1872G>T (p.Leu624=) c.2133G>T (p.Leu711=) c.2232G>T (p.Leu744=) n.4418G>T c.339G>T (p.Leu113=) c.*1034G>T (n.*1034G>T) c.2115G>T (p.Leu705=) c.2238G>T (p.Leu746=) c.1971G>T (p.Leu657=) c.1965G>T (p.Leu655=) c.1848G>T (p.Leu616=) c.2226G>T (p.Leu742=) c.1959G>T (p.Leu653=) c.1167G>T (p.Leu389=) n.2412G>T | |
8 | g.38414199C>G | CA460499332 | FGFR1 | c.2139G>C (p.Leu713=) c.2127G>C (p.Leu709=) n.3032G>C n.1379G>C n.829G>C c.2319G>C (p.Leu773=) n.2827G>C c.1860G>C (p.Leu620=) c.*1785G>C (n.*1785G>C) c.*2106G>C (n.*2106G>C) n.3633G>C c.1866G>C (p.Leu622=) c.2109G>C (p.Leu703=) c.*1189G>C (n.*1189G>C) c.1872G>C (p.Leu624=) c.2133G>C (p.Leu711=) c.2232G>C (p.Leu744=) n.4418G>C c.339G>C (p.Leu113=) c.*1034G>C (n.*1034G>C) c.2115G>C (p.Leu705=) c.2238G>C (p.Leu746=) c.1971G>C (p.Leu657=) c.1965G>C (p.Leu655=) c.1848G>C (p.Leu616=) c.2226G>C (p.Leu742=) c.1959G>C (p.Leu653=) c.1167G>C (p.Leu389=) n.2412G>C | dbSNP |
8 | g.38414199C>T | CA460499333 | FGFR1 | c.2139G>A (p.Leu713=) c.2127G>A (p.Leu709=) n.3032G>A n.1379G>A n.829G>A c.2319G>A (p.Leu773=) n.2827G>A c.1860G>A (p.Leu620=) c.*1785G>A (n.*1785G>A) c.*2106G>A (n.*2106G>A) n.3633G>A c.1866G>A (p.Leu622=) c.2109G>A (p.Leu703=) c.*1189G>A (n.*1189G>A) c.1872G>A (p.Leu624=) c.2133G>A (p.Leu711=) c.2232G>A (p.Leu744=) n.4418G>A c.339G>A (p.Leu113=) c.*1034G>A (n.*1034G>A) c.2115G>A (p.Leu705=) c.2238G>A (p.Leu746=) c.1971G>A (p.Leu657=) c.1965G>A (p.Leu655=) c.1848G>A (p.Leu616=) c.2226G>A (p.Leu742=) c.1959G>A (p.Leu653=) c.1167G>A (p.Leu389=) n.2412G>A | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
8 | g.38414200A= | CA1777533833 | FGFR1 | c.2138T= (p.Leu713=) c.2126T= (p.Leu709=) n.3031T= n.1378T= n.828T= c.2318T= (p.Leu773=) n.2826T= c.1859T= (p.Leu620=) c.*1784T= (n.*1784T=) c.*2105T= (n.*2105T=) n.3632T= c.1865T= (p.Leu622=) c.2108T= (p.Leu703=) c.*1188T= (n.*1188T=) c.1871T= (p.Leu624=) c.2132T= (p.Leu711=) c.2231T= (p.Leu744=) n.4417T= c.338T= (p.Leu113=) c.*1033T= (n.*1033T=) c.2114T= (p.Leu705=) c.2237T= (p.Leu746=) c.1970T= (p.Leu657=) c.1964T= (p.Leu655=) c.1847T= (p.Leu616=) c.2225T= (p.Leu742=) c.1958T= (p.Leu653=) c.1166T= (p.Leu389=) n.2411T= | |
8 | g.38414200A>C | CA370728592 | FGFR1 | c.2138T>G (p.Leu713Arg) c.2126T>G (p.Leu709Arg) n.3031T>G n.1378T>G n.828T>G c.2318T>G (p.Leu773Arg) n.2826T>G c.1859T>G (p.Leu620Arg) c.*1784T>G (n.*1784T>G) c.*2105T>G (n.*2105T>G) n.3632T>G c.1865T>G (p.Leu622Arg) c.2108T>G (p.Leu703Arg) c.*1188T>G (n.*1188T>G) c.1871T>G (p.Leu624Arg) c.2132T>G (p.Leu711Arg) c.2231T>G (p.Leu744Arg) n.4417T>G c.338T>G (p.Leu113Arg) c.*1033T>G (n.*1033T>G) c.2114T>G (p.Leu705Arg) c.2237T>G (p.Leu746Arg) c.1970T>G (p.Leu657Arg) c.1964T>G (p.Leu655Arg) c.1847T>G (p.Leu616Arg) c.2225T>G (p.Leu742Arg) c.1958T>G (p.Leu653Arg) c.1166T>G (p.Leu389Arg) n.2411T>G | |
8 | g.38414200A>G | CA370728594 | FGFR1 | c.2138T>C (p.Leu713Pro) c.2126T>C (p.Leu709Pro) n.3031T>C n.1378T>C n.828T>C c.2318T>C (p.Leu773Pro) n.2826T>C c.1859T>C (p.Leu620Pro) c.*1784T>C (n.*1784T>C) c.*2105T>C (n.*2105T>C) n.3632T>C c.1865T>C (p.Leu622Pro) c.2108T>C (p.Leu703Pro) c.*1188T>C (n.*1188T>C) c.1871T>C (p.Leu624Pro) c.2132T>C (p.Leu711Pro) c.2231T>C (p.Leu744Pro) n.4417T>C c.338T>C (p.Leu113Pro) c.*1033T>C (n.*1033T>C) c.2114T>C (p.Leu705Pro) c.2237T>C (p.Leu746Pro) c.1970T>C (p.Leu657Pro) c.1964T>C (p.Leu655Pro) c.1847T>C (p.Leu616Pro) c.2225T>C (p.Leu742Pro) c.1958T>C (p.Leu653Pro) c.1166T>C (p.Leu389Pro) n.2411T>C | ClinVar dbSNP |
8 | g.38414200A>T | CA370728596 | FGFR1 | c.2138T>A (p.Leu713Gln) c.2126T>A (p.Leu709Gln) n.3031T>A n.1378T>A n.828T>A c.2318T>A (p.Leu773Gln) n.2826T>A c.1859T>A (p.Leu620Gln) c.*1784T>A (n.*1784T>A) c.*2105T>A (n.*2105T>A) n.3632T>A c.1865T>A (p.Leu622Gln) c.2108T>A (p.Leu703Gln) c.*1188T>A (n.*1188T>A) c.1871T>A (p.Leu624Gln) c.2132T>A (p.Leu711Gln) c.2231T>A (p.Leu744Gln) n.4417T>A c.338T>A (p.Leu113Gln) c.*1033T>A (n.*1033T>A) c.2114T>A (p.Leu705Gln) c.2237T>A (p.Leu746Gln) c.1970T>A (p.Leu657Gln) c.1964T>A (p.Leu655Gln) c.1847T>A (p.Leu616Gln) c.2225T>A (p.Leu742Gln) c.1958T>A (p.Leu653Gln) c.1166T>A (p.Leu389Gln) n.2411T>A | dbSNP |
8 | g.38414201G>A | CA460499338 | FGFR1 | c.2137C>T (p.Leu713=) c.2125C>T (p.Leu709=) n.3030C>T n.1377C>T n.827C>T c.2317C>T (p.Leu773=) n.2825C>T c.1858C>T (p.Leu620=) c.*1783C>T (n.*1783C>T) c.*2104C>T (n.*2104C>T) n.3631C>T c.1864C>T (p.Leu622=) c.2107C>T (p.Leu703=) c.*1187C>T (n.*1187C>T) c.1870C>T (p.Leu624=) c.2131C>T (p.Leu711=) c.2230C>T (p.Leu744=) n.4416C>T c.337C>T (p.Leu113=) c.*1032C>T (n.*1032C>T) c.2113C>T (p.Leu705=) c.2236C>T (p.Leu746=) c.1969C>T (p.Leu657=) c.1963C>T (p.Leu655=) c.1846C>T (p.Leu616=) c.2224C>T (p.Leu742=) c.1957C>T (p.Leu653=) c.1165C>T (p.Leu389=) n.2410C>T | dbSNP |
8 | g.38414201G>C | CA370728599 | FGFR1 | c.2137C>G (p.Leu713Val) c.2125C>G (p.Leu709Val) n.3030C>G n.1377C>G n.827C>G c.2317C>G (p.Leu773Val) n.2825C>G c.1858C>G (p.Leu620Val) c.*1783C>G (n.*1783C>G) c.*2104C>G (n.*2104C>G) n.3631C>G c.1864C>G (p.Leu622Val) c.2107C>G (p.Leu703Val) c.*1187C>G (n.*1187C>G) c.1870C>G (p.Leu624Val) c.2131C>G (p.Leu711Val) c.2230C>G (p.Leu744Val) n.4416C>G c.337C>G (p.Leu113Val) c.*1032C>G (n.*1032C>G) c.2113C>G (p.Leu705Val) c.2236C>G (p.Leu746Val) c.1969C>G (p.Leu657Val) c.1963C>G (p.Leu655Val) c.1846C>G (p.Leu616Val) c.2224C>G (p.Leu742Val) c.1957C>G (p.Leu653Val) c.1165C>G (p.Leu389Val) n.2410C>G | dbSNP gnomAD v4 |
8 | g.38414201G>T | CA370728601 | FGFR1 | c.2137C>A (p.Leu713Met) c.2125C>A (p.Leu709Met) n.3030C>A n.1377C>A n.827C>A c.2317C>A (p.Leu773Met) n.2825C>A c.1858C>A (p.Leu620Met) c.*1783C>A (n.*1783C>A) c.*2104C>A (n.*2104C>A) n.3631C>A c.1864C>A (p.Leu622Met) c.2107C>A (p.Leu703Met) c.*1187C>A (n.*1187C>A) c.1870C>A (p.Leu624Met) c.2131C>A (p.Leu711Met) c.2230C>A (p.Leu744Met) n.4416C>A c.337C>A (p.Leu113Met) c.*1032C>A (n.*1032C>A) c.2113C>A (p.Leu705Met) c.2236C>A (p.Leu746Met) c.1969C>A (p.Leu657Met) c.1963C>A (p.Leu655Met) c.1846C>A (p.Leu616Met) c.2224C>A (p.Leu742Met) c.1957C>A (p.Leu653Met) c.1165C>A (p.Leu389Met) n.2410C>A | |
8 | g.38414202C>A | CA460499340 | FGFR1 | c.2136G>T (p.Leu712=) c.2124G>T (p.Leu708=) n.3029G>T n.1376G>T n.826G>T c.2316G>T (p.Leu772=) n.2824G>T c.1857G>T (p.Leu619=) c.*1782G>T (n.*1782G>T) c.*2103G>T (n.*2103G>T) n.3630G>T c.1863G>T (p.Leu621=) c.2106G>T (p.Leu702=) c.*1186G>T (n.*1186G>T) c.1869G>T (p.Leu623=) c.2130G>T (p.Leu710=) c.2229G>T (p.Leu743=) n.4415G>T c.336G>T (p.Leu112=) c.*1031G>T (n.*1031G>T) c.2112G>T (p.Leu704=) c.2235G>T (p.Leu745=) c.1968G>T (p.Leu656=) c.1962G>T (p.Leu654=) c.1845G>T (p.Leu615=) c.2223G>T (p.Leu741=) c.1956G>T (p.Leu652=) c.1164G>T (p.Leu388=) n.2409G>T | dbSNP |
8 | g.38414202C>G | CA460499341 | FGFR1 | c.2136G>C (p.Leu712=) c.2124G>C (p.Leu708=) n.3029G>C n.1376G>C n.826G>C c.2316G>C (p.Leu772=) n.2824G>C c.1857G>C (p.Leu619=) c.*1782G>C (n.*1782G>C) c.*2103G>C (n.*2103G>C) n.3630G>C c.1863G>C (p.Leu621=) c.2106G>C (p.Leu702=) c.*1186G>C (n.*1186G>C) c.1869G>C (p.Leu623=) c.2130G>C (p.Leu710=) c.2229G>C (p.Leu743=) n.4415G>C c.336G>C (p.Leu112=) c.*1031G>C (n.*1031G>C) c.2112G>C (p.Leu704=) c.2235G>C (p.Leu745=) c.1968G>C (p.Leu656=) c.1962G>C (p.Leu654=) c.1845G>C (p.Leu615=) c.2223G>C (p.Leu741=) c.1956G>C (p.Leu652=) c.1164G>C (p.Leu388=) n.2409G>C | dbSNP |
8 | g.38414202C>T | CA460499342 | FGFR1 | c.2136G>A (p.Leu712=) c.2124G>A (p.Leu708=) n.3029G>A n.1376G>A n.826G>A c.2316G>A (p.Leu772=) n.2824G>A c.1857G>A (p.Leu619=) c.*1782G>A (n.*1782G>A) c.*2103G>A (n.*2103G>A) n.3630G>A c.1863G>A (p.Leu621=) c.2106G>A (p.Leu702=) c.*1186G>A (n.*1186G>A) c.1869G>A (p.Leu623=) c.2130G>A (p.Leu710=) c.2229G>A (p.Leu743=) n.4415G>A c.336G>A (p.Leu112=) c.*1031G>A (n.*1031G>A) c.2112G>A (p.Leu704=) c.2235G>A (p.Leu745=) c.1968G>A (p.Leu656=) c.1962G>A (p.Leu654=) c.1845G>A (p.Leu615=) c.2223G>A (p.Leu741=) c.1956G>A (p.Leu652=) c.1164G>A (p.Leu388=) n.2409G>A | dbSNP |
8 | g.38414203A>C | CA370728604 | FGFR1 | c.2135T>G (p.Leu712Arg) c.2123T>G (p.Leu708Arg) n.3028T>G n.1375T>G n.825T>G c.2315T>G (p.Leu772Arg) n.2823T>G c.1856T>G (p.Leu619Arg) c.*1781T>G (n.*1781T>G) c.*2102T>G (n.*2102T>G) n.3629T>G c.1862T>G (p.Leu621Arg) c.2105T>G (p.Leu702Arg) c.*1185T>G (n.*1185T>G) c.1868T>G (p.Leu623Arg) c.2129T>G (p.Leu710Arg) c.2228T>G (p.Leu743Arg) n.4414T>G c.335T>G (p.Leu112Arg) c.*1030T>G (n.*1030T>G) c.2111T>G (p.Leu704Arg) c.2234T>G (p.Leu745Arg) c.1967T>G (p.Leu656Arg) c.1961T>G (p.Leu654Arg) c.1844T>G (p.Leu615Arg) c.2222T>G (p.Leu741Arg) c.1955T>G (p.Leu652Arg) c.1163T>G (p.Leu388Arg) n.2408T>G | |
8 | g.38414203A>G | CA370728605 | FGFR1 | c.2135T>C (p.Leu712Pro) c.2123T>C (p.Leu708Pro) n.3028T>C n.1375T>C n.825T>C c.2315T>C (p.Leu772Pro) n.2823T>C c.1856T>C (p.Leu619Pro) c.*1781T>C (n.*1781T>C) c.*2102T>C (n.*2102T>C) n.3629T>C c.1862T>C (p.Leu621Pro) c.2105T>C (p.Leu702Pro) c.*1185T>C (n.*1185T>C) c.1868T>C (p.Leu623Pro) c.2129T>C (p.Leu710Pro) c.2228T>C (p.Leu743Pro) n.4414T>C c.335T>C (p.Leu112Pro) c.*1030T>C (n.*1030T>C) c.2111T>C (p.Leu704Pro) c.2234T>C (p.Leu745Pro) c.1967T>C (p.Leu656Pro) c.1961T>C (p.Leu654Pro) c.1844T>C (p.Leu615Pro) c.2222T>C (p.Leu741Pro) c.1955T>C (p.Leu652Pro) c.1163T>C (p.Leu388Pro) n.2408T>C | dbSNP |
8 | g.38414203A>T | CA370728608 | FGFR1 | c.2135T>A (p.Leu712Gln) c.2123T>A (p.Leu708Gln) n.3028T>A n.1375T>A n.825T>A c.2315T>A (p.Leu772Gln) n.2823T>A c.1856T>A (p.Leu619Gln) c.*1781T>A (n.*1781T>A) c.*2102T>A (n.*2102T>A) n.3629T>A c.1862T>A (p.Leu621Gln) c.2105T>A (p.Leu702Gln) c.*1185T>A (n.*1185T>A) c.1868T>A (p.Leu623Gln) c.2129T>A (p.Leu710Gln) c.2228T>A (p.Leu743Gln) n.4414T>A c.335T>A (p.Leu112Gln) c.*1030T>A (n.*1030T>A) c.2111T>A (p.Leu704Gln) c.2234T>A (p.Leu745Gln) c.1967T>A (p.Leu656Gln) c.1961T>A (p.Leu654Gln) c.1844T>A (p.Leu615Gln) c.2222T>A (p.Leu741Gln) c.1955T>A (p.Leu652Gln) c.1163T>A (p.Leu388Gln) n.2408T>A | dbSNP |
8 | g.38414204G>A | CA460499343 | FGFR1 | c.2134C>T (p.Leu712=) c.2122C>T (p.Leu708=) n.3027C>T n.1374C>T n.824C>T c.2314C>T (p.Leu772=) n.2822C>T c.1855C>T (p.Leu619=) c.*1780C>T (n.*1780C>T) c.*2101C>T (n.*2101C>T) n.3628C>T c.1861C>T (p.Leu621=) c.2104C>T (p.Leu702=) c.*1184C>T (n.*1184C>T) c.1867C>T (p.Leu623=) c.2128C>T (p.Leu710=) c.2227C>T (p.Leu743=) n.4413C>T c.334C>T (p.Leu112=) c.*1029C>T (n.*1029C>T) c.2110C>T (p.Leu704=) c.2233C>T (p.Leu745=) c.1966C>T (p.Leu656=) c.1960C>T (p.Leu654=) c.1843C>T (p.Leu615=) c.2221C>T (p.Leu741=) c.1954C>T (p.Leu652=) c.1162C>T (p.Leu388=) n.2407C>T | dbSNP |
8 | g.38414204G>C | CA370728612 | FGFR1 | c.2134C>G (p.Leu712Val) c.2122C>G (p.Leu708Val) n.3027C>G n.1374C>G n.824C>G c.2314C>G (p.Leu772Val) n.2822C>G c.1855C>G (p.Leu619Val) c.*1780C>G (n.*1780C>G) c.*2101C>G (n.*2101C>G) n.3628C>G c.1861C>G (p.Leu621Val) c.2104C>G (p.Leu702Val) c.*1184C>G (n.*1184C>G) c.1867C>G (p.Leu623Val) c.2128C>G (p.Leu710Val) c.2227C>G (p.Leu743Val) n.4413C>G c.334C>G (p.Leu112Val) c.*1029C>G (n.*1029C>G) c.2110C>G (p.Leu704Val) c.2233C>G (p.Leu745Val) c.1966C>G (p.Leu656Val) c.1960C>G (p.Leu654Val) c.1843C>G (p.Leu615Val) c.2221C>G (p.Leu741Val) c.1954C>G (p.Leu652Val) c.1162C>G (p.Leu388Val) n.2407C>G | dbSNP |
8 | g.38414204G= | CA1777533836 | FGFR1 | c.2134C= (p.Leu712=) c.2122C= (p.Leu708=) n.3027C= n.1374C= n.824C= c.2314C= (p.Leu772=) n.2822C= c.1855C= (p.Leu619=) c.*1780C= (n.*1780C=) c.*2101C= (n.*2101C=) n.3628C= c.1861C= (p.Leu621=) c.2104C= (p.Leu702=) c.*1184C= (n.*1184C=) c.1867C= (p.Leu623=) c.2128C= (p.Leu710=) c.2227C= (p.Leu743=) n.4413C= c.334C= (p.Leu112=) c.*1029C= (n.*1029C=) c.2110C= (p.Leu704=) c.2233C= (p.Leu745=) c.1966C= (p.Leu656=) c.1960C= (p.Leu654=) c.1843C= (p.Leu615=) c.2221C= (p.Leu741=) c.1954C= (p.Leu652=) c.1162C= (p.Leu388=) n.2407C= | |
8 | g.38414204G>T | CA370728613 | FGFR1 | c.2134C>A (p.Leu712Met) c.2122C>A (p.Leu708Met) n.3027C>A n.1374C>A n.824C>A c.2314C>A (p.Leu772Met) n.2822C>A c.1855C>A (p.Leu619Met) c.*1780C>A (n.*1780C>A) c.*2101C>A (n.*2101C>A) n.3628C>A c.1861C>A (p.Leu621Met) c.2104C>A (p.Leu702Met) c.*1184C>A (n.*1184C>A) c.1867C>A (p.Leu623Met) c.2128C>A (p.Leu710Met) c.2227C>A (p.Leu743Met) n.4413C>A c.334C>A (p.Leu112Met) c.*1029C>A (n.*1029C>A) c.2110C>A (p.Leu704Met) c.2233C>A (p.Leu745Met) c.1966C>A (p.Leu656Met) c.1960C>A (p.Leu654Met) c.1843C>A (p.Leu615Met) c.2221C>A (p.Leu741Met) c.1954C>A (p.Leu652Met) c.1162C>A (p.Leu388Met) n.2407C>A | |
8 | g.38414205C>A | CA370728616 | FGFR1 | c.2133G>T (p.Lys711Asn) c.2121G>T (p.Lys707Asn) n.3026G>T n.1373G>T n.823G>T c.2313G>T (p.Lys771Asn) n.2821G>T c.1854G>T (p.Lys618Asn) c.*1779G>T (n.*1779G>T) c.*2100G>T (n.*2100G>T) n.3627G>T c.1860G>T (p.Lys620Asn) c.2103G>T (p.Lys701Asn) c.*1183G>T (n.*1183G>T) c.1866G>T (p.Lys622Asn) c.2127G>T (p.Lys709Asn) c.2226G>T (p.Lys742Asn) n.4412G>T c.333G>T (p.Lys111Asn) c.*1028G>T (n.*1028G>T) c.2109G>T (p.Lys703Asn) c.2232G>T (p.Lys744Asn) c.1965G>T (p.Lys655Asn) c.1959G>T (p.Lys653Asn) c.1842G>T (p.Lys614Asn) c.2220G>T (p.Lys740Asn) c.1953G>T (p.Lys651Asn) c.1161G>T (p.Lys387Asn) n.2406G>T | |
8 | g.38414205C>G | CA370728618 | FGFR1 | c.2133G>C (p.Lys711Asn) c.2121G>C (p.Lys707Asn) n.3026G>C n.1373G>C n.823G>C c.2313G>C (p.Lys771Asn) n.2821G>C c.1854G>C (p.Lys618Asn) c.*1779G>C (n.*1779G>C) c.*2100G>C (n.*2100G>C) n.3627G>C c.1860G>C (p.Lys620Asn) c.2103G>C (p.Lys701Asn) c.*1183G>C (n.*1183G>C) c.1866G>C (p.Lys622Asn) c.2127G>C (p.Lys709Asn) c.2226G>C (p.Lys742Asn) n.4412G>C c.333G>C (p.Lys111Asn) c.*1028G>C (n.*1028G>C) c.2109G>C (p.Lys703Asn) c.2232G>C (p.Lys744Asn) c.1965G>C (p.Lys655Asn) c.1959G>C (p.Lys653Asn) c.1842G>C (p.Lys614Asn) c.2220G>C (p.Lys740Asn) c.1953G>C (p.Lys651Asn) c.1161G>C (p.Lys387Asn) n.2406G>C | |
8 | g.38414205C>T | CA460499345 | FGFR1 | c.2133G>A (p.Lys711=) c.2121G>A (p.Lys707=) n.3026G>A n.1373G>A n.823G>A c.2313G>A (p.Lys771=) n.2821G>A c.1854G>A (p.Lys618=) c.*1779G>A (n.*1779G>A) c.*2100G>A (n.*2100G>A) n.3627G>A c.1860G>A (p.Lys620=) c.2103G>A (p.Lys701=) c.*1183G>A (n.*1183G>A) c.1866G>A (p.Lys622=) c.2127G>A (p.Lys709=) c.2226G>A (p.Lys742=) n.4412G>A c.333G>A (p.Lys111=) c.*1028G>A (n.*1028G>A) c.2109G>A (p.Lys703=) c.2232G>A (p.Lys744=) c.1965G>A (p.Lys655=) c.1959G>A (p.Lys653=) c.1842G>A (p.Lys614=) c.2220G>A (p.Lys740=) c.1953G>A (p.Lys651=) c.1161G>A (p.Lys387=) n.2406G>A | |
8 | g.38414206T>A | CA370728626 | FGFR1 | c.2132A>T (p.Lys711Met) c.2120A>T (p.Lys707Met) n.3025A>T n.1372A>T n.822A>T c.2312A>T (p.Lys771Met) n.2820A>T c.1853A>T (p.Lys618Met) c.*1778A>T (n.*1778A>T) c.*2099A>T (n.*2099A>T) n.3626A>T c.1859A>T (p.Lys620Met) c.2102A>T (p.Lys701Met) c.*1182A>T (n.*1182A>T) c.1865A>T (p.Lys622Met) c.2126A>T (p.Lys709Met) c.2225A>T (p.Lys742Met) n.4411A>T c.332A>T (p.Lys111Met) c.*1027A>T (n.*1027A>T) c.2108A>T (p.Lys703Met) c.2231A>T (p.Lys744Met) c.1964A>T (p.Lys655Met) c.1958A>T (p.Lys653Met) c.1841A>T (p.Lys614Met) c.2219A>T (p.Lys740Met) c.1952A>T (p.Lys651Met) c.1160A>T (p.Lys387Met) n.2405A>T | dbSNP |
8 | g.38414206T>C | CA370728622 | FGFR1 | c.2132A>G (p.Lys711Arg) c.2120A>G (p.Lys707Arg) n.3025A>G n.1372A>G n.822A>G c.2312A>G (p.Lys771Arg) n.2820A>G c.1853A>G (p.Lys618Arg) c.*1778A>G (n.*1778A>G) c.*2099A>G (n.*2099A>G) n.3626A>G c.1859A>G (p.Lys620Arg) c.2102A>G (p.Lys701Arg) c.*1182A>G (n.*1182A>G) c.1865A>G (p.Lys622Arg) c.2126A>G (p.Lys709Arg) c.2225A>G (p.Lys742Arg) n.4411A>G c.332A>G (p.Lys111Arg) c.*1027A>G (n.*1027A>G) c.2108A>G (p.Lys703Arg) c.2231A>G (p.Lys744Arg) c.1964A>G (p.Lys655Arg) c.1958A>G (p.Lys653Arg) c.1841A>G (p.Lys614Arg) c.2219A>G (p.Lys740Arg) c.1952A>G (p.Lys651Arg) c.1160A>G (p.Lys387Arg) n.2405A>G | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
8 | g.38414206T>G | CA370728624 | FGFR1 | c.2132A>C (p.Lys711Thr) c.2120A>C (p.Lys707Thr) n.3025A>C n.1372A>C n.822A>C c.2312A>C (p.Lys771Thr) n.2820A>C c.1853A>C (p.Lys618Thr) c.*1778A>C (n.*1778A>C) c.*2099A>C (n.*2099A>C) n.3626A>C c.1859A>C (p.Lys620Thr) c.2102A>C (p.Lys701Thr) c.*1182A>C (n.*1182A>C) c.1865A>C (p.Lys622Thr) c.2126A>C (p.Lys709Thr) c.2225A>C (p.Lys742Thr) n.4411A>C c.332A>C (p.Lys111Thr) c.*1027A>C (n.*1027A>C) c.2108A>C (p.Lys703Thr) c.2231A>C (p.Lys744Thr) c.1964A>C (p.Lys655Thr) c.1958A>C (p.Lys653Thr) c.1841A>C (p.Lys614Thr) c.2219A>C (p.Lys740Thr) c.1952A>C (p.Lys651Thr) c.1160A>C (p.Lys387Thr) n.2405A>C | |
8 | g.38414207T>A | CA370728629 | FGFR1 | c.2131A>T (p.Lys711Ter) c.2119A>T (p.Lys707Ter) n.3024A>T n.1371A>T n.821A>T c.2311A>T (p.Lys771Ter) n.2819A>T c.1852A>T (p.Lys618Ter) c.*1777A>T (n.*1777A>T) c.*2098A>T (n.*2098A>T) n.3625A>T c.1858A>T (p.Lys620Ter) c.2101A>T (p.Lys701Ter) c.*1181A>T (n.*1181A>T) c.1864A>T (p.Lys622Ter) c.2125A>T (p.Lys709Ter) c.2224A>T (p.Lys742Ter) n.4410A>T c.331A>T (p.Lys111Ter) c.*1026A>T (n.*1026A>T) c.2107A>T (p.Lys703Ter) c.2230A>T (p.Lys744Ter) c.1963A>T (p.Lys655Ter) c.1957A>T (p.Lys653Ter) c.1840A>T (p.Lys614Ter) c.2218A>T (p.Lys740Ter) c.1951A>T (p.Lys651Ter) c.1159A>T (p.Lys387Ter) n.2404A>T | dbSNP |
8 | g.38414207T>C | CA370728632 | FGFR1 | c.2131A>G (p.Lys711Glu) c.2119A>G (p.Lys707Glu) n.3024A>G n.1371A>G n.821A>G c.2311A>G (p.Lys771Glu) n.2819A>G c.1852A>G (p.Lys618Glu) c.*1777A>G (n.*1777A>G) c.*2098A>G (n.*2098A>G) n.3625A>G c.1858A>G (p.Lys620Glu) c.2101A>G (p.Lys701Glu) c.*1181A>G (n.*1181A>G) c.1864A>G (p.Lys622Glu) c.2125A>G (p.Lys709Glu) c.2224A>G (p.Lys742Glu) n.4410A>G c.331A>G (p.Lys111Glu) c.*1026A>G (n.*1026A>G) c.2107A>G (p.Lys703Glu) c.2230A>G (p.Lys744Glu) c.1963A>G (p.Lys655Glu) c.1957A>G (p.Lys653Glu) c.1840A>G (p.Lys614Glu) c.2218A>G (p.Lys740Glu) c.1951A>G (p.Lys651Glu) c.1159A>G (p.Lys387Glu) n.2404A>G | dbSNP |
8 | g.38414207T>G | CA370728634 | FGFR1 | c.2131A>C (p.Lys711Gln) c.2119A>C (p.Lys707Gln) n.3024A>C n.1371A>C n.821A>C c.2311A>C (p.Lys771Gln) n.2819A>C c.1852A>C (p.Lys618Gln) c.*1777A>C (n.*1777A>C) c.*2098A>C (n.*2098A>C) n.3625A>C c.1858A>C (p.Lys620Gln) c.2101A>C (p.Lys701Gln) c.*1181A>C (n.*1181A>C) c.1864A>C (p.Lys622Gln) c.2125A>C (p.Lys709Gln) c.2224A>C (p.Lys742Gln) n.4410A>C c.331A>C (p.Lys111Gln) c.*1026A>C (n.*1026A>C) c.2107A>C (p.Lys703Gln) c.2230A>C (p.Lys744Gln) c.1963A>C (p.Lys655Gln) c.1957A>C (p.Lys653Gln) c.1840A>C (p.Lys614Gln) c.2218A>C (p.Lys740Gln) c.1951A>C (p.Lys651Gln) c.1159A>C (p.Lys387Gln) n.2404A>C | gnomAD v4 |
8 | g.38414208G>A | CA4718173 | FGFR1 | c.2130C>T (p.Phe710=) c.2118C>T (p.Phe706=) n.3023C>T n.1370C>T n.820C>T c.2310C>T (p.Phe770=) n.2818C>T c.1851C>T (p.Phe617=) c.*1776C>T (n.*1776C>T) c.*2097C>T (n.*2097C>T) n.3624C>T c.1857C>T (p.Phe619=) c.2100C>T (p.Phe700=) c.*1180C>T (n.*1180C>T) c.1863C>T (p.Phe621=) c.2124C>T (p.Phe708=) c.2223C>T (p.Phe741=) n.4409C>T c.330C>T (p.Phe110=) c.*1025C>T (n.*1025C>T) c.2106C>T (p.Phe702=) c.2229C>T (p.Phe743=) c.1962C>T (p.Phe654=) c.1956C>T (p.Phe652=) c.1839C>T (p.Phe613=) c.2217C>T (p.Phe739=) c.1950C>T (p.Phe650=) c.1158C>T (p.Phe386=) n.2403C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38414208G>C | CA370728639 | FGFR1 | c.2130C>G (p.Phe710Leu) c.2118C>G (p.Phe706Leu) n.3023C>G n.1370C>G n.820C>G c.2310C>G (p.Phe770Leu) n.2818C>G c.1851C>G (p.Phe617Leu) c.*1776C>G (n.*1776C>G) c.*2097C>G (n.*2097C>G) n.3624C>G c.1857C>G (p.Phe619Leu) c.2100C>G (p.Phe700Leu) c.*1180C>G (n.*1180C>G) c.1863C>G (p.Phe621Leu) c.2124C>G (p.Phe708Leu) c.2223C>G (p.Phe741Leu) n.4409C>G c.330C>G (p.Phe110Leu) c.*1025C>G (n.*1025C>G) c.2106C>G (p.Phe702Leu) c.2229C>G (p.Phe743Leu) c.1962C>G (p.Phe654Leu) c.1956C>G (p.Phe652Leu) c.1839C>G (p.Phe613Leu) c.2217C>G (p.Phe739Leu) c.1950C>G (p.Phe650Leu) c.1158C>G (p.Phe386Leu) n.2403C>G | |
8 | g.38414208G= | CA1777533841 | FGFR1 | c.2130C= (p.Phe710=) c.2118C= (p.Phe706=) n.3023C= n.1370C= n.820C= c.2310C= (p.Phe770=) n.2818C= c.1851C= (p.Phe617=) c.*1776C= (n.*1776C=) c.*2097C= (n.*2097C=) n.3624C= c.1857C= (p.Phe619=) c.2100C= (p.Phe700=) c.*1180C= (n.*1180C=) c.1863C= (p.Phe621=) c.2124C= (p.Phe708=) c.2223C= (p.Phe741=) n.4409C= c.330C= (p.Phe110=) c.*1025C= (n.*1025C=) c.2106C= (p.Phe702=) c.2229C= (p.Phe743=) c.1962C= (p.Phe654=) c.1956C= (p.Phe652=) c.1839C= (p.Phe613=) c.2217C= (p.Phe739=) c.1950C= (p.Phe650=) c.1158C= (p.Phe386=) n.2403C= | |
8 | g.38414208G>T | CA370728641 | FGFR1 | c.2130C>A (p.Phe710Leu) c.2118C>A (p.Phe706Leu) n.3023C>A n.1370C>A n.820C>A c.2310C>A (p.Phe770Leu) n.2818C>A c.1851C>A (p.Phe617Leu) c.*1776C>A (n.*1776C>A) c.*2097C>A (n.*2097C>A) n.3624C>A c.1857C>A (p.Phe619Leu) c.2100C>A (p.Phe700Leu) c.*1180C>A (n.*1180C>A) c.1863C>A (p.Phe621Leu) c.2124C>A (p.Phe708Leu) c.2223C>A (p.Phe741Leu) n.4409C>A c.330C>A (p.Phe110Leu) c.*1025C>A (n.*1025C>A) c.2106C>A (p.Phe702Leu) c.2229C>A (p.Phe743Leu) c.1962C>A (p.Phe654Leu) c.1956C>A (p.Phe652Leu) c.1839C>A (p.Phe613Leu) c.2217C>A (p.Phe739Leu) c.1950C>A (p.Phe650Leu) c.1158C>A (p.Phe386Leu) n.2403C>A | |
8 | g.38414209A>C | CA370728644 | FGFR1 | c.2129T>G (p.Phe710Cys) c.2117T>G (p.Phe706Cys) n.3022T>G n.1369T>G n.819T>G c.2309T>G (p.Phe770Cys) n.2817T>G c.1850T>G (p.Phe617Cys) c.*1775T>G (n.*1775T>G) c.*2096T>G (n.*2096T>G) n.3623T>G c.1856T>G (p.Phe619Cys) c.2099T>G (p.Phe700Cys) c.*1179T>G (n.*1179T>G) c.1862T>G (p.Phe621Cys) c.2123T>G (p.Phe708Cys) c.2222T>G (p.Phe741Cys) n.4408T>G c.329T>G (p.Phe110Cys) c.*1024T>G (n.*1024T>G) c.2105T>G (p.Phe702Cys) c.2228T>G (p.Phe743Cys) c.1961T>G (p.Phe654Cys) c.1955T>G (p.Phe652Cys) c.1838T>G (p.Phe613Cys) c.2216T>G (p.Phe739Cys) c.1949T>G (p.Phe650Cys) c.1157T>G (p.Phe386Cys) n.2402T>G | |
8 | g.38414209A>G | CA370728646 | FGFR1 | c.2129T>C (p.Phe710Ser) c.2117T>C (p.Phe706Ser) n.3022T>C n.1369T>C n.819T>C c.2309T>C (p.Phe770Ser) n.2817T>C c.1850T>C (p.Phe617Ser) c.*1775T>C (n.*1775T>C) c.*2096T>C (n.*2096T>C) n.3623T>C c.1856T>C (p.Phe619Ser) c.2099T>C (p.Phe700Ser) c.*1179T>C (n.*1179T>C) c.1862T>C (p.Phe621Ser) c.2123T>C (p.Phe708Ser) c.2222T>C (p.Phe741Ser) n.4408T>C c.329T>C (p.Phe110Ser) c.*1024T>C (n.*1024T>C) c.2105T>C (p.Phe702Ser) c.2228T>C (p.Phe743Ser) c.1961T>C (p.Phe654Ser) c.1955T>C (p.Phe652Ser) c.1838T>C (p.Phe613Ser) c.2216T>C (p.Phe739Ser) c.1949T>C (p.Phe650Ser) c.1157T>C (p.Phe386Ser) n.2402T>C | dbSNP |
8 | g.38414209A>T | CA370728648 | FGFR1 | c.2129T>A (p.Phe710Tyr) c.2117T>A (p.Phe706Tyr) n.3022T>A n.1369T>A n.819T>A c.2309T>A (p.Phe770Tyr) n.2817T>A c.1850T>A (p.Phe617Tyr) c.*1775T>A (n.*1775T>A) c.*2096T>A (n.*2096T>A) n.3623T>A c.1856T>A (p.Phe619Tyr) c.2099T>A (p.Phe700Tyr) c.*1179T>A (n.*1179T>A) c.1862T>A (p.Phe621Tyr) c.2123T>A (p.Phe708Tyr) c.2222T>A (p.Phe741Tyr) n.4408T>A c.329T>A (p.Phe110Tyr) c.*1024T>A (n.*1024T>A) c.2105T>A (p.Phe702Tyr) c.2228T>A (p.Phe743Tyr) c.1961T>A (p.Phe654Tyr) c.1955T>A (p.Phe652Tyr) c.1838T>A (p.Phe613Tyr) c.2216T>A (p.Phe739Tyr) c.1949T>A (p.Phe650Tyr) c.1157T>A (p.Phe386Tyr) n.2402T>A | dbSNP |
8 | g.38414210A>C | CA370728650 | FGFR1 | c.2128T>G (p.Phe710Val) c.2116T>G (p.Phe706Val) n.3021T>G n.1368T>G n.818T>G c.2308T>G (p.Phe770Val) n.2816T>G c.1849T>G (p.Phe617Val) c.*1774T>G (n.*1774T>G) c.*2095T>G (n.*2095T>G) n.3622T>G c.1855T>G (p.Phe619Val) c.2098T>G (p.Phe700Val) c.*1178T>G (n.*1178T>G) c.1861T>G (p.Phe621Val) c.2122T>G (p.Phe708Val) c.2221T>G (p.Phe741Val) n.4407T>G c.328T>G (p.Phe110Val) c.*1023T>G (n.*1023T>G) c.2104T>G (p.Phe702Val) c.2227T>G (p.Phe743Val) c.1960T>G (p.Phe654Val) c.1954T>G (p.Phe652Val) c.1837T>G (p.Phe613Val) c.2215T>G (p.Phe739Val) c.1948T>G (p.Phe650Val) c.1156T>G (p.Phe386Val) n.2401T>G | |
8 | g.38414210A>G | CA370728652 | FGFR1 | c.2128T>C (p.Phe710Leu) c.2116T>C (p.Phe706Leu) n.3021T>C n.1368T>C n.818T>C c.2308T>C (p.Phe770Leu) n.2816T>C c.1849T>C (p.Phe617Leu) c.*1774T>C (n.*1774T>C) c.*2095T>C (n.*2095T>C) n.3622T>C c.1855T>C (p.Phe619Leu) c.2098T>C (p.Phe700Leu) c.*1178T>C (n.*1178T>C) c.1861T>C (p.Phe621Leu) c.2122T>C (p.Phe708Leu) c.2221T>C (p.Phe741Leu) n.4407T>C c.328T>C (p.Phe110Leu) c.*1023T>C (n.*1023T>C) c.2104T>C (p.Phe702Leu) c.2227T>C (p.Phe743Leu) c.1960T>C (p.Phe654Leu) c.1954T>C (p.Phe652Leu) c.1837T>C (p.Phe613Leu) c.2215T>C (p.Phe739Leu) c.1948T>C (p.Phe650Leu) c.1156T>C (p.Phe386Leu) n.2401T>C | |
8 | g.38414210A>T | CA370728655 | FGFR1 | c.2128T>A (p.Phe710Ile) c.2116T>A (p.Phe706Ile) n.3021T>A n.1368T>A n.818T>A c.2308T>A (p.Phe770Ile) n.2816T>A c.1849T>A (p.Phe617Ile) c.*1774T>A (n.*1774T>A) c.*2095T>A (n.*2095T>A) n.3622T>A c.1855T>A (p.Phe619Ile) c.2098T>A (p.Phe700Ile) c.*1178T>A (n.*1178T>A) c.1861T>A (p.Phe621Ile) c.2122T>A (p.Phe708Ile) c.2221T>A (p.Phe741Ile) n.4407T>A c.328T>A (p.Phe110Ile) c.*1023T>A (n.*1023T>A) c.2104T>A (p.Phe702Ile) c.2227T>A (p.Phe743Ile) c.1960T>A (p.Phe654Ile) c.1954T>A (p.Phe652Ile) c.1837T>A (p.Phe613Ile) c.2215T>A (p.Phe739Ile) c.1948T>A (p.Phe650Ile) c.1156T>A (p.Phe386Ile) n.2401T>A | dbSNP |
8 | g.38414211A= | CA1777533842 | FGFR1 | c.2127T= (p.Leu709=) c.2115T= (p.Leu705=) n.3020T= n.1367T= n.817T= c.2307T= (p.Leu769=) n.2815T= c.1848T= (p.Leu616=) c.*1773T= (n.*1773T=) c.*2094T= (n.*2094T=) n.3621T= c.1854T= (p.Leu618=) c.2097T= (p.Leu699=) c.*1177T= (n.*1177T=) c.1860T= (p.Leu620=) c.2121T= (p.Leu707=) c.2220T= (p.Leu740=) n.4406T= c.327T= (p.Leu109=) c.*1022T= (n.*1022T=) c.2103T= (p.Leu701=) c.2226T= (p.Leu742=) c.1959T= (p.Leu653=) c.1953T= (p.Leu651=) c.1836T= (p.Leu612=) c.2214T= (p.Leu738=) c.1947T= (p.Leu649=) c.1155T= (p.Leu385=) n.2400T= | |
8 | g.38414211A>C | CA4718174 | FGFR1 | c.2127T>G (p.Leu709=) c.2115T>G (p.Leu705=) n.3020T>G n.1367T>G n.817T>G c.2307T>G (p.Leu769=) n.2815T>G c.1848T>G (p.Leu616=) c.*1773T>G (n.*1773T>G) c.*2094T>G (n.*2094T>G) n.3621T>G c.1854T>G (p.Leu618=) c.2097T>G (p.Leu699=) c.*1177T>G (n.*1177T>G) c.1860T>G (p.Leu620=) c.2121T>G (p.Leu707=) c.2220T>G (p.Leu740=) n.4406T>G c.327T>G (p.Leu109=) c.*1022T>G (n.*1022T>G) c.2103T>G (p.Leu701=) c.2226T>G (p.Leu742=) c.1959T>G (p.Leu653=) c.1953T>G (p.Leu651=) c.1836T>G (p.Leu612=) c.2214T>G (p.Leu738=) c.1947T>G (p.Leu649=) c.1155T>G (p.Leu385=) n.2400T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38414211A>G | CA460499355 | FGFR1 | c.2127T>C (p.Leu709=) c.2115T>C (p.Leu705=) n.3020T>C n.1367T>C n.817T>C c.2307T>C (p.Leu769=) n.2815T>C c.1848T>C (p.Leu616=) c.*1773T>C (n.*1773T>C) c.*2094T>C (n.*2094T>C) n.3621T>C c.1854T>C (p.Leu618=) c.2097T>C (p.Leu699=) c.*1177T>C (n.*1177T>C) c.1860T>C (p.Leu620=) c.2121T>C (p.Leu707=) c.2220T>C (p.Leu740=) n.4406T>C c.327T>C (p.Leu109=) c.*1022T>C (n.*1022T>C) c.2103T>C (p.Leu701=) c.2226T>C (p.Leu742=) c.1959T>C (p.Leu653=) c.1953T>C (p.Leu651=) c.1836T>C (p.Leu612=) c.2214T>C (p.Leu738=) c.1947T>C (p.Leu649=) c.1155T>C (p.Leu385=) n.2400T>C | |
8 | g.38414211A>T | CA460499359 | FGFR1 | c.2127T>A (p.Leu709=) c.2115T>A (p.Leu705=) n.3020T>A n.1367T>A n.817T>A c.2307T>A (p.Leu769=) n.2815T>A c.1848T>A (p.Leu616=) c.*1773T>A (n.*1773T>A) c.*2094T>A (n.*2094T>A) n.3621T>A c.1854T>A (p.Leu618=) c.2097T>A (p.Leu699=) c.*1177T>A (n.*1177T>A) c.1860T>A (p.Leu620=) c.2121T>A (p.Leu707=) c.2220T>A (p.Leu740=) n.4406T>A c.327T>A (p.Leu109=) c.*1022T>A (n.*1022T>A) c.2103T>A (p.Leu701=) c.2226T>A (p.Leu742=) c.1959T>A (p.Leu653=) c.1953T>A (p.Leu651=) c.1836T>A (p.Leu612=) c.2214T>A (p.Leu738=) c.1947T>A (p.Leu649=) c.1155T>A (p.Leu385=) n.2400T>A | |
8 | g.38414212A>C | CA370728664 | FGFR1 | c.2126T>G (p.Leu709Arg) c.2114T>G (p.Leu705Arg) n.3019T>G n.1366T>G n.816T>G c.2306T>G (p.Leu769Arg) n.2814T>G c.1847T>G (p.Leu616Arg) c.*1772T>G (n.*1772T>G) c.*2093T>G (n.*2093T>G) n.3620T>G c.1853T>G (p.Leu618Arg) c.2096T>G (p.Leu699Arg) c.*1176T>G (n.*1176T>G) c.1859T>G (p.Leu620Arg) c.2120T>G (p.Leu707Arg) c.2219T>G (p.Leu740Arg) n.4405T>G c.326T>G (p.Leu109Arg) c.*1021T>G (n.*1021T>G) c.2102T>G (p.Leu701Arg) c.2225T>G (p.Leu742Arg) c.1958T>G (p.Leu653Arg) c.1952T>G (p.Leu651Arg) c.1835T>G (p.Leu612Arg) c.2213T>G (p.Leu738Arg) c.1946T>G (p.Leu649Arg) c.1154T>G (p.Leu385Arg) n.2399T>G | |
8 | g.38414212A>G | CA370728660 | FGFR1 | c.2126T>C (p.Leu709Pro) c.2114T>C (p.Leu705Pro) n.3019T>C n.1366T>C n.816T>C c.2306T>C (p.Leu769Pro) n.2814T>C c.1847T>C (p.Leu616Pro) c.*1772T>C (n.*1772T>C) c.*2093T>C (n.*2093T>C) n.3620T>C c.1853T>C (p.Leu618Pro) c.2096T>C (p.Leu699Pro) c.*1176T>C (n.*1176T>C) c.1859T>C (p.Leu620Pro) c.2120T>C (p.Leu707Pro) c.2219T>C (p.Leu740Pro) n.4405T>C c.326T>C (p.Leu109Pro) c.*1021T>C (n.*1021T>C) c.2102T>C (p.Leu701Pro) c.2225T>C (p.Leu742Pro) c.1958T>C (p.Leu653Pro) c.1952T>C (p.Leu651Pro) c.1835T>C (p.Leu612Pro) c.2213T>C (p.Leu738Pro) c.1946T>C (p.Leu649Pro) c.1154T>C (p.Leu385Pro) n.2399T>C | dbSNP |
8 | g.38414212A>T | CA370728662 | FGFR1 | c.2126T>A (p.Leu709His) c.2114T>A (p.Leu705His) n.3019T>A n.1366T>A n.816T>A c.2306T>A (p.Leu769His) n.2814T>A c.1847T>A (p.Leu616His) c.*1772T>A (n.*1772T>A) c.*2093T>A (n.*2093T>A) n.3620T>A c.1853T>A (p.Leu618His) c.2096T>A (p.Leu699His) c.*1176T>A (n.*1176T>A) c.1859T>A (p.Leu620His) c.2120T>A (p.Leu707His) c.2219T>A (p.Leu740His) n.4405T>A c.326T>A (p.Leu109His) c.*1021T>A (n.*1021T>A) c.2102T>A (p.Leu701His) c.2225T>A (p.Leu742His) c.1958T>A (p.Leu653His) c.1952T>A (p.Leu651His) c.1835T>A (p.Leu612His) c.2213T>A (p.Leu738His) c.1946T>A (p.Leu649His) c.1154T>A (p.Leu385His) n.2399T>A | dbSNP |
8 | g.38414213G>A | CA370728667 | FGFR1 | c.2125C>T (p.Leu709Phe) c.2113C>T (p.Leu705Phe) n.3018C>T n.1365C>T n.815C>T c.2305C>T (p.Leu769Phe) n.2813C>T c.1846C>T (p.Leu616Phe) c.*1771C>T (n.*1771C>T) c.*2092C>T (n.*2092C>T) n.3619C>T c.1852C>T (p.Leu618Phe) c.2095C>T (p.Leu699Phe) c.*1175C>T (n.*1175C>T) c.1858C>T (p.Leu620Phe) c.2119C>T (p.Leu707Phe) c.2218C>T (p.Leu740Phe) n.4404C>T c.325C>T (p.Leu109Phe) c.*1020C>T (n.*1020C>T) c.2101C>T (p.Leu701Phe) c.2224C>T (p.Leu742Phe) c.1957C>T (p.Leu653Phe) c.1951C>T (p.Leu651Phe) c.1834C>T (p.Leu612Phe) c.2212C>T (p.Leu738Phe) c.1945C>T (p.Leu649Phe) c.1153C>T (p.Leu385Phe) n.2398C>T | |
8 | g.38414213G>C | CA370728669 | FGFR1 | c.2125C>G (p.Leu709Val) c.2113C>G (p.Leu705Val) n.3018C>G n.1365C>G n.815C>G c.2305C>G (p.Leu769Val) n.2813C>G c.1846C>G (p.Leu616Val) c.*1771C>G (n.*1771C>G) c.*2092C>G (n.*2092C>G) n.3619C>G c.1852C>G (p.Leu618Val) c.2095C>G (p.Leu699Val) c.*1175C>G (n.*1175C>G) c.1858C>G (p.Leu620Val) c.2119C>G (p.Leu707Val) c.2218C>G (p.Leu740Val) n.4404C>G c.325C>G (p.Leu109Val) c.*1020C>G (n.*1020C>G) c.2101C>G (p.Leu701Val) c.2224C>G (p.Leu742Val) c.1957C>G (p.Leu653Val) c.1951C>G (p.Leu651Val) c.1834C>G (p.Leu612Val) c.2212C>G (p.Leu738Val) c.1945C>G (p.Leu649Val) c.1153C>G (p.Leu385Val) n.2398C>G | dbSNP |
8 | g.38414213G>T | CA370728671 | FGFR1 | c.2125C>A (p.Leu709Ile) c.2113C>A (p.Leu705Ile) n.3018C>A n.1365C>A n.815C>A c.2305C>A (p.Leu769Ile) n.2813C>A c.1846C>A (p.Leu616Ile) c.*1771C>A (n.*1771C>A) c.*2092C>A (n.*2092C>A) n.3619C>A c.1852C>A (p.Leu618Ile) c.2095C>A (p.Leu699Ile) c.*1175C>A (n.*1175C>A) c.1858C>A (p.Leu620Ile) c.2119C>A (p.Leu707Ile) c.2218C>A (p.Leu740Ile) n.4404C>A c.325C>A (p.Leu109Ile) c.*1020C>A (n.*1020C>A) c.2101C>A (p.Leu701Ile) c.2224C>A (p.Leu742Ile) c.1957C>A (p.Leu653Ile) c.1951C>A (p.Leu651Ile) c.1834C>A (p.Leu612Ile) c.2212C>A (p.Leu738Ile) c.1945C>A (p.Leu649Ile) c.1153C>A (p.Leu385Ile) n.2398C>A | |
8 | g.38414214T>A | CA370728674 | FGFR1 | c.2124A>T (p.Glu708Asp) c.2112A>T (p.Glu704Asp) n.3017A>T n.1364A>T n.814A>T c.2304A>T (p.Glu768Asp) n.2812A>T c.1845A>T (p.Glu615Asp) c.*1770A>T (n.*1770A>T) c.*2091A>T (n.*2091A>T) n.3618A>T c.1851A>T (p.Glu617Asp) c.2094A>T (p.Glu698Asp) c.*1174A>T (n.*1174A>T) c.1857A>T (p.Glu619Asp) c.2118A>T (p.Glu706Asp) c.2217A>T (p.Glu739Asp) n.4403A>T c.324A>T (p.Glu108Asp) c.*1019A>T (n.*1019A>T) c.2100A>T (p.Glu700Asp) c.2223A>T (p.Glu741Asp) c.1956A>T (p.Glu652Asp) c.1950A>T (p.Glu650Asp) c.1833A>T (p.Glu611Asp) c.2211A>T (p.Glu737Asp) c.1944A>T (p.Glu648Asp) c.1152A>T (p.Glu384Asp) n.2397A>T | dbSNP |
8 | g.38414214T>C | CA460499368 | FGFR1 | c.2124A>G (p.Glu708=) c.2112A>G (p.Glu704=) n.3017A>G n.1364A>G n.814A>G c.2304A>G (p.Glu768=) n.2812A>G c.1845A>G (p.Glu615=) c.*1770A>G (n.*1770A>G) c.*2091A>G (n.*2091A>G) n.3618A>G c.1851A>G (p.Glu617=) c.2094A>G (p.Glu698=) c.*1174A>G (n.*1174A>G) c.1857A>G (p.Glu619=) c.2118A>G (p.Glu706=) c.2217A>G (p.Glu739=) n.4403A>G c.324A>G (p.Glu108=) c.*1019A>G (n.*1019A>G) c.2100A>G (p.Glu700=) c.2223A>G (p.Glu741=) c.1956A>G (p.Glu652=) c.1950A>G (p.Glu650=) c.1833A>G (p.Glu611=) c.2211A>G (p.Glu737=) c.1944A>G (p.Glu648=) c.1152A>G (p.Glu384=) n.2397A>G | dbSNP |
8 | g.38414214T>G | CA370728676 | FGFR1 | c.2124A>C (p.Glu708Asp) c.2112A>C (p.Glu704Asp) n.3017A>C n.1364A>C n.814A>C c.2304A>C (p.Glu768Asp) n.2812A>C c.1845A>C (p.Glu615Asp) c.*1770A>C (n.*1770A>C) c.*2091A>C (n.*2091A>C) n.3618A>C c.1851A>C (p.Glu617Asp) c.2094A>C (p.Glu698Asp) c.*1174A>C (n.*1174A>C) c.1857A>C (p.Glu619Asp) c.2118A>C (p.Glu706Asp) c.2217A>C (p.Glu739Asp) n.4403A>C c.324A>C (p.Glu108Asp) c.*1019A>C (n.*1019A>C) c.2100A>C (p.Glu700Asp) c.2223A>C (p.Glu741Asp) c.1956A>C (p.Glu652Asp) c.1950A>C (p.Glu650Asp) c.1833A>C (p.Glu611Asp) c.2211A>C (p.Glu737Asp) c.1944A>C (p.Glu648Asp) c.1152A>C (p.Glu384Asp) n.2397A>C | dbSNP gnomAD v4 |
8 | g.38414215T>A | CA370728679 | FGFR1 | c.2123A>T (p.Glu708Val) c.2111A>T (p.Glu704Val) n.3016A>T n.1363A>T n.813A>T c.2303A>T (p.Glu768Val) n.2811A>T c.1844A>T (p.Glu615Val) c.*1769A>T (n.*1769A>T) c.*2090A>T (n.*2090A>T) n.3617A>T c.1850A>T (p.Glu617Val) c.2093A>T (p.Glu698Val) c.*1173A>T (n.*1173A>T) c.1856A>T (p.Glu619Val) c.2117A>T (p.Glu706Val) c.2216A>T (p.Glu739Val) n.4402A>T c.323A>T (p.Glu108Val) c.*1018A>T (n.*1018A>T) c.2099A>T (p.Glu700Val) c.2222A>T (p.Glu741Val) c.1955A>T (p.Glu652Val) c.1949A>T (p.Glu650Val) c.1832A>T (p.Glu611Val) c.2210A>T (p.Glu737Val) c.1943A>T (p.Glu648Val) c.1151A>T (p.Glu384Val) n.2396A>T | dbSNP |
8 | g.38414215T>C | CA370728681 | FGFR1 | c.2123A>G (p.Glu708Gly) c.2111A>G (p.Glu704Gly) n.3016A>G n.1363A>G n.813A>G c.2303A>G (p.Glu768Gly) n.2811A>G c.1844A>G (p.Glu615Gly) c.*1769A>G (n.*1769A>G) c.*2090A>G (n.*2090A>G) n.3617A>G c.1850A>G (p.Glu617Gly) c.2093A>G (p.Glu698Gly) c.*1173A>G (n.*1173A>G) c.1856A>G (p.Glu619Gly) c.2117A>G (p.Glu706Gly) c.2216A>G (p.Glu739Gly) n.4402A>G c.323A>G (p.Glu108Gly) c.*1018A>G (n.*1018A>G) c.2099A>G (p.Glu700Gly) c.2222A>G (p.Glu741Gly) c.1955A>G (p.Glu652Gly) c.1949A>G (p.Glu650Gly) c.1832A>G (p.Glu611Gly) c.2210A>G (p.Glu737Gly) c.1943A>G (p.Glu648Gly) c.1151A>G (p.Glu384Gly) n.2396A>G | dbSNP |
8 | g.38414215T>G | CA370728683 | FGFR1 | c.2123A>C (p.Glu708Ala) c.2111A>C (p.Glu704Ala) n.3016A>C n.1363A>C n.813A>C c.2303A>C (p.Glu768Ala) n.2811A>C c.1844A>C (p.Glu615Ala) c.*1769A>C (n.*1769A>C) c.*2090A>C (n.*2090A>C) n.3617A>C c.1850A>C (p.Glu617Ala) c.2093A>C (p.Glu698Ala) c.*1173A>C (n.*1173A>C) c.1856A>C (p.Glu619Ala) c.2117A>C (p.Glu706Ala) c.2216A>C (p.Glu739Ala) n.4402A>C c.323A>C (p.Glu108Ala) c.*1018A>C (n.*1018A>C) c.2099A>C (p.Glu700Ala) c.2222A>C (p.Glu741Ala) c.1955A>C (p.Glu652Ala) c.1949A>C (p.Glu650Ala) c.1832A>C (p.Glu611Ala) c.2210A>C (p.Glu737Ala) c.1943A>C (p.Glu648Ala) c.1151A>C (p.Glu384Ala) n.2396A>C | |
8 | g.38414216C>A | CA370728686 | FGFR1 | c.2122G>T (p.Glu708Ter) c.2110G>T (p.Glu704Ter) n.3015G>T n.1362G>T n.812G>T c.2302G>T (p.Glu768Ter) n.2810G>T c.1843G>T (p.Glu615Ter) c.*1768G>T (n.*1768G>T) c.*2089G>T (n.*2089G>T) n.3616G>T c.1849G>T (p.Glu617Ter) c.2092G>T (p.Glu698Ter) c.*1172G>T (n.*1172G>T) c.1855G>T (p.Glu619Ter) c.2116G>T (p.Glu706Ter) c.2215G>T (p.Glu739Ter) n.4401G>T c.322G>T (p.Glu108Ter) c.*1017G>T (n.*1017G>T) c.2098G>T (p.Glu700Ter) c.2221G>T (p.Glu741Ter) c.1954G>T (p.Glu652Ter) c.1948G>T (p.Glu650Ter) c.1831G>T (p.Glu611Ter) c.2209G>T (p.Glu737Ter) c.1942G>T (p.Glu648Ter) c.1150G>T (p.Glu384Ter) n.2395G>T | ClinVar dbSNP |
8 | g.38414216C>G | CA370728688 | FGFR1 | c.2122G>C (p.Glu708Gln) c.2110G>C (p.Glu704Gln) n.3015G>C n.1362G>C n.812G>C c.2302G>C (p.Glu768Gln) n.2810G>C c.1843G>C (p.Glu615Gln) c.*1768G>C (n.*1768G>C) c.*2089G>C (n.*2089G>C) n.3616G>C c.1849G>C (p.Glu617Gln) c.2092G>C (p.Glu698Gln) c.*1172G>C (n.*1172G>C) c.1855G>C (p.Glu619Gln) c.2116G>C (p.Glu706Gln) c.2215G>C (p.Glu739Gln) n.4401G>C c.322G>C (p.Glu108Gln) c.*1017G>C (n.*1017G>C) c.2098G>C (p.Glu700Gln) c.2221G>C (p.Glu741Gln) c.1954G>C (p.Glu652Gln) c.1948G>C (p.Glu650Gln) c.1831G>C (p.Glu611Gln) c.2209G>C (p.Glu737Gln) c.1942G>C (p.Glu648Gln) c.1150G>C (p.Glu384Gln) n.2395G>C | dbSNP |
8 | g.38414216C>T | CA370728690 | FGFR1 | c.2122G>A (p.Glu708Lys) c.2110G>A (p.Glu704Lys) n.3015G>A n.1362G>A n.812G>A c.2302G>A (p.Glu768Lys) n.2810G>A c.1843G>A (p.Glu615Lys) c.*1768G>A (n.*1768G>A) c.*2089G>A (n.*2089G>A) n.3616G>A c.1849G>A (p.Glu617Lys) c.2092G>A (p.Glu698Lys) c.*1172G>A (n.*1172G>A) c.1855G>A (p.Glu619Lys) c.2116G>A (p.Glu706Lys) c.2215G>A (p.Glu739Lys) n.4401G>A c.322G>A (p.Glu108Lys) c.*1017G>A (n.*1017G>A) c.2098G>A (p.Glu700Lys) c.2221G>A (p.Glu741Lys) c.1954G>A (p.Glu652Lys) c.1948G>A (p.Glu650Lys) c.1831G>A (p.Glu611Lys) c.2209G>A (p.Glu737Lys) c.1942G>A (p.Glu648Lys) c.1150G>A (p.Glu384Lys) n.2395G>A | dbSNP |
8 | g.38414217C>A | CA370728697 | FGFR1 | c.2121G>T (p.Glu707Asp) c.2109G>T (p.Glu703Asp) n.3014G>T n.1361G>T n.811G>T c.2301G>T (p.Glu767Asp) n.2809G>T c.1842G>T (p.Glu614Asp) c.*1767G>T (n.*1767G>T) c.*2088G>T (n.*2088G>T) n.3615G>T c.1848G>T (p.Glu616Asp) c.2091G>T (p.Glu697Asp) c.*1171G>T (n.*1171G>T) c.1854G>T (p.Glu618Asp) c.2115G>T (p.Glu705Asp) c.2214G>T (p.Glu738Asp) n.4400G>T c.321G>T (p.Glu107Asp) c.*1016G>T (n.*1016G>T) c.2097G>T (p.Glu699Asp) c.2220G>T (p.Glu740Asp) c.1953G>T (p.Glu651Asp) c.1947G>T (p.Glu649Asp) c.1830G>T (p.Glu610Asp) c.2208G>T (p.Glu736Asp) c.1941G>T (p.Glu647Asp) c.1149G>T (p.Glu383Asp) n.2394G>T | dbSNP |
8 | g.38414217C= | CA1777533845 | FGFR1 | c.2121G= (p.Glu707=) c.2109G= (p.Glu703=) n.3014G= n.1361G= n.811G= c.2301G= (p.Glu767=) n.2809G= c.1842G= (p.Glu614=) c.*1767G= (n.*1767G=) c.*2088G= (n.*2088G=) n.3615G= c.1848G= (p.Glu616=) c.2091G= (p.Glu697=) c.*1171G= (n.*1171G=) c.1854G= (p.Glu618=) c.2115G= (p.Glu705=) c.2214G= (p.Glu738=) n.4400G= c.321G= (p.Glu107=) c.*1016G= (n.*1016G=) c.2097G= (p.Glu699=) c.2220G= (p.Glu740=) c.1953G= (p.Glu651=) c.1947G= (p.Glu649=) c.1830G= (p.Glu610=) c.2208G= (p.Glu736=) c.1941G= (p.Glu647=) c.1149G= (p.Glu383=) n.2394G= | |
8 | g.38414217C>G | CA370728693 | FGFR1 | c.2121G>C (p.Glu707Asp) c.2109G>C (p.Glu703Asp) n.3014G>C n.1361G>C n.811G>C c.2301G>C (p.Glu767Asp) n.2809G>C c.1842G>C (p.Glu614Asp) c.*1767G>C (n.*1767G>C) c.*2088G>C (n.*2088G>C) n.3615G>C c.1848G>C (p.Glu616Asp) c.2091G>C (p.Glu697Asp) c.*1171G>C (n.*1171G>C) c.1854G>C (p.Glu618Asp) c.2115G>C (p.Glu705Asp) c.2214G>C (p.Glu738Asp) n.4400G>C c.321G>C (p.Glu107Asp) c.*1016G>C (n.*1016G>C) c.2097G>C (p.Glu699Asp) c.2220G>C (p.Glu740Asp) c.1953G>C (p.Glu651Asp) c.1947G>C (p.Glu649Asp) c.1830G>C (p.Glu610Asp) c.2208G>C (p.Glu736Asp) c.1941G>C (p.Glu647Asp) c.1149G>C (p.Glu383Asp) n.2394G>C | dbSNP |
8 | g.38414217C>T | CA4718175 | FGFR1 | c.2121G>A (p.Glu707=) c.2109G>A (p.Glu703=) n.3014G>A n.1361G>A n.811G>A c.2301G>A (p.Glu767=) n.2809G>A c.1842G>A (p.Glu614=) c.*1767G>A (n.*1767G>A) c.*2088G>A (n.*2088G>A) n.3615G>A c.1848G>A (p.Glu616=) c.2091G>A (p.Glu697=) c.*1171G>A (n.*1171G>A) c.1854G>A (p.Glu618=) c.2115G>A (p.Glu705=) c.2214G>A (p.Glu738=) n.4400G>A c.321G>A (p.Glu107=) c.*1016G>A (n.*1016G>A) c.2097G>A (p.Glu699=) c.2220G>A (p.Glu740=) c.1953G>A (p.Glu651=) c.1947G>A (p.Glu649=) c.1830G>A (p.Glu610=) c.2208G>A (p.Glu736=) c.1941G>A (p.Glu647=) c.1149G>A (p.Glu383=) n.2394G>A | dbSNP ExAC gnomAD v4 |
8 | g.38414218T>A | CA370728699 | FGFR1 | c.2120A>T (p.Glu707Val) c.2108A>T (p.Glu703Val) n.3013A>T n.1360A>T n.810A>T c.2300A>T (p.Glu767Val) n.2808A>T c.1841A>T (p.Glu614Val) c.*1766A>T (n.*1766A>T) c.*2087A>T (n.*2087A>T) n.3614A>T c.1847A>T (p.Glu616Val) c.2090A>T (p.Glu697Val) c.*1170A>T (n.*1170A>T) c.1853A>T (p.Glu618Val) c.2114A>T (p.Glu705Val) c.2213A>T (p.Glu738Val) n.4399A>T c.320A>T (p.Glu107Val) c.*1015A>T (n.*1015A>T) c.2096A>T (p.Glu699Val) c.2219A>T (p.Glu740Val) c.1952A>T (p.Glu651Val) c.1946A>T (p.Glu649Val) c.1829A>T (p.Glu610Val) c.2207A>T (p.Glu736Val) c.1940A>T (p.Glu647Val) c.1148A>T (p.Glu383Val) n.2393A>T | |
8 | g.38414218T>C | CA370728701 | FGFR1 | c.2120A>G (p.Glu707Gly) c.2108A>G (p.Glu703Gly) n.3013A>G n.1360A>G n.810A>G c.2300A>G (p.Glu767Gly) n.2808A>G c.1841A>G (p.Glu614Gly) c.*1766A>G (n.*1766A>G) c.*2087A>G (n.*2087A>G) n.3614A>G c.1847A>G (p.Glu616Gly) c.2090A>G (p.Glu697Gly) c.*1170A>G (n.*1170A>G) c.1853A>G (p.Glu618Gly) c.2114A>G (p.Glu705Gly) c.2213A>G (p.Glu738Gly) n.4399A>G c.320A>G (p.Glu107Gly) c.*1015A>G (n.*1015A>G) c.2096A>G (p.Glu699Gly) c.2219A>G (p.Glu740Gly) c.1952A>G (p.Glu651Gly) c.1946A>G (p.Glu649Gly) c.1829A>G (p.Glu610Gly) c.2207A>G (p.Glu736Gly) c.1940A>G (p.Glu647Gly) c.1148A>G (p.Glu383Gly) n.2393A>G | |
8 | g.38414218T>G | CA370728703 | FGFR1 | c.2120A>C (p.Glu707Ala) c.2108A>C (p.Glu703Ala) n.3013A>C n.1360A>C n.810A>C c.2300A>C (p.Glu767Ala) n.2808A>C c.1841A>C (p.Glu614Ala) c.*1766A>C (n.*1766A>C) c.*2087A>C (n.*2087A>C) n.3614A>C c.1847A>C (p.Glu616Ala) c.2090A>C (p.Glu697Ala) c.*1170A>C (n.*1170A>C) c.1853A>C (p.Glu618Ala) c.2114A>C (p.Glu705Ala) c.2213A>C (p.Glu738Ala) n.4399A>C c.320A>C (p.Glu107Ala) c.*1015A>C (n.*1015A>C) c.2096A>C (p.Glu699Ala) c.2219A>C (p.Glu740Ala) c.1952A>C (p.Glu651Ala) c.1946A>C (p.Glu649Ala) c.1829A>C (p.Glu610Ala) c.2207A>C (p.Glu736Ala) c.1940A>C (p.Glu647Ala) c.1148A>C (p.Glu383Ala) n.2393A>C | |
8 | g.38414219C>A | CA370728706 | FGFR1 | c.2119G>T (p.Glu707Ter) c.2107G>T (p.Glu703Ter) n.3012G>T n.1359G>T n.809G>T c.2299G>T (p.Glu767Ter) n.2807G>T c.1840G>T (p.Glu614Ter) c.*1765G>T (n.*1765G>T) c.*2086G>T (n.*2086G>T) n.3613G>T c.1846G>T (p.Glu616Ter) c.2089G>T (p.Glu697Ter) c.*1169G>T (n.*1169G>T) c.1852G>T (p.Glu618Ter) c.2113G>T (p.Glu705Ter) c.2212G>T (p.Glu738Ter) n.4398G>T c.319G>T (p.Glu107Ter) c.*1014G>T (n.*1014G>T) c.2095G>T (p.Glu699Ter) c.2218G>T (p.Glu740Ter) c.1951G>T (p.Glu651Ter) c.1945G>T (p.Glu649Ter) c.1828G>T (p.Glu610Ter) c.2206G>T (p.Glu736Ter) c.1939G>T (p.Glu647Ter) c.1147G>T (p.Glu383Ter) n.2392G>T | dbSNP |
8 | g.38414219C>G | CA370728708 | FGFR1 | c.2119G>C (p.Glu707Gln) c.2107G>C (p.Glu703Gln) n.3012G>C n.1359G>C n.809G>C c.2299G>C (p.Glu767Gln) n.2807G>C c.1840G>C (p.Glu614Gln) c.*1765G>C (n.*1765G>C) c.*2086G>C (n.*2086G>C) n.3613G>C c.1846G>C (p.Glu616Gln) c.2089G>C (p.Glu697Gln) c.*1169G>C (n.*1169G>C) c.1852G>C (p.Glu618Gln) c.2113G>C (p.Glu705Gln) c.2212G>C (p.Glu738Gln) n.4398G>C c.319G>C (p.Glu107Gln) c.*1014G>C (n.*1014G>C) c.2095G>C (p.Glu699Gln) c.2218G>C (p.Glu740Gln) c.1951G>C (p.Glu651Gln) c.1945G>C (p.Glu649Gln) c.1828G>C (p.Glu610Gln) c.2206G>C (p.Glu736Gln) c.1939G>C (p.Glu647Gln) c.1147G>C (p.Glu383Gln) n.2392G>C | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
8 | g.38414219C>T | CA370728711 | FGFR1 | c.2119G>A (p.Glu707Lys) c.2107G>A (p.Glu703Lys) n.3012G>A n.1359G>A n.809G>A c.2299G>A (p.Glu767Lys) n.2807G>A c.1840G>A (p.Glu614Lys) c.*1765G>A (n.*1765G>A) c.*2086G>A (n.*2086G>A) n.3613G>A c.1846G>A (p.Glu616Lys) c.2089G>A (p.Glu697Lys) c.*1169G>A (n.*1169G>A) c.1852G>A (p.Glu618Lys) c.2113G>A (p.Glu705Lys) c.2212G>A (p.Glu738Lys) n.4398G>A c.319G>A (p.Glu107Lys) c.*1014G>A (n.*1014G>A) c.2095G>A (p.Glu699Lys) c.2218G>A (p.Glu740Lys) c.1951G>A (p.Glu651Lys) c.1945G>A (p.Glu649Lys) c.1828G>A (p.Glu610Lys) c.2206G>A (p.Glu736Lys) c.1939G>A (p.Glu647Lys) c.1147G>A (p.Glu383Lys) n.2392G>A | dbSNP |
8 | g.38414220C>A | CA460499377 | FGFR1 | c.2118G>T (p.Val706=) c.2106G>T (p.Val702=) n.3011G>T n.1358G>T n.808G>T c.2298G>T (p.Val766=) n.2806G>T c.1839G>T (p.Val613=) c.*1764G>T (n.*1764G>T) c.*2085G>T (n.*2085G>T) n.3612G>T c.1845G>T (p.Val615=) c.2088G>T (p.Val696=) c.*1168G>T (n.*1168G>T) c.1851G>T (p.Val617=) c.2112G>T (p.Val704=) c.2211G>T (p.Val737=) n.4397G>T c.318G>T (p.Val106=) c.*1013G>T (n.*1013G>T) c.2094G>T (p.Val698=) c.2217G>T (p.Val739=) c.1950G>T (p.Val650=) c.1944G>T (p.Val648=) c.1827G>T (p.Val609=) c.2205G>T (p.Val735=) c.1938G>T (p.Val646=) c.1146G>T (p.Val382=) n.2391G>T | dbSNP |
8 | g.38414220C>G | CA460499379 | FGFR1 | c.2118G>C (p.Val706=) c.2106G>C (p.Val702=) n.3011G>C n.1358G>C n.808G>C c.2298G>C (p.Val766=) n.2806G>C c.1839G>C (p.Val613=) c.*1764G>C (n.*1764G>C) c.*2085G>C (n.*2085G>C) n.3612G>C c.1845G>C (p.Val615=) c.2088G>C (p.Val696=) c.*1168G>C (n.*1168G>C) c.1851G>C (p.Val617=) c.2112G>C (p.Val704=) c.2211G>C (p.Val737=) n.4397G>C c.318G>C (p.Val106=) c.*1013G>C (n.*1013G>C) c.2094G>C (p.Val698=) c.2217G>C (p.Val739=) c.1950G>C (p.Val650=) c.1944G>C (p.Val648=) c.1827G>C (p.Val609=) c.2205G>C (p.Val735=) c.1938G>C (p.Val646=) c.1146G>C (p.Val382=) n.2391G>C | dbSNP |
8 | g.38414220C>T | CA460499382 | FGFR1 | c.2118G>A (p.Val706=) c.2106G>A (p.Val702=) n.3011G>A n.1358G>A n.808G>A c.2298G>A (p.Val766=) n.2806G>A c.1839G>A (p.Val613=) c.*1764G>A (n.*1764G>A) c.*2085G>A (n.*2085G>A) n.3612G>A c.1845G>A (p.Val615=) c.2088G>A (p.Val696=) c.*1168G>A (n.*1168G>A) c.1851G>A (p.Val617=) c.2112G>A (p.Val704=) c.2211G>A (p.Val737=) n.4397G>A c.318G>A (p.Val106=) c.*1013G>A (n.*1013G>A) c.2094G>A (p.Val698=) c.2217G>A (p.Val739=) c.1950G>A (p.Val650=) c.1944G>A (p.Val648=) c.1827G>A (p.Val609=) c.2205G>A (p.Val735=) c.1938G>A (p.Val646=) c.1146G>A (p.Val382=) n.2391G>A | dbSNP |
8 | g.38414221A>C | CA370728716 | FGFR1 | c.2117T>G (p.Val706Gly) c.2105T>G (p.Val702Gly) n.3010T>G n.1357T>G n.807T>G c.2297T>G (p.Val766Gly) n.2805T>G c.1838T>G (p.Val613Gly) c.*1763T>G (n.*1763T>G) c.*2084T>G (n.*2084T>G) n.3611T>G c.1844T>G (p.Val615Gly) c.2087T>G (p.Val696Gly) c.*1167T>G (n.*1167T>G) c.1850T>G (p.Val617Gly) c.2111T>G (p.Val704Gly) c.2210T>G (p.Val737Gly) n.4396T>G c.317T>G (p.Val106Gly) c.*1012T>G (n.*1012T>G) c.2093T>G (p.Val698Gly) c.2216T>G (p.Val739Gly) c.1949T>G (p.Val650Gly) c.1943T>G (p.Val648Gly) c.1826T>G (p.Val609Gly) c.2204T>G (p.Val735Gly) c.1937T>G (p.Val646Gly) c.1145T>G (p.Val382Gly) n.2390T>G | dbSNP |
8 | g.38414221A>G | CA370728719 | FGFR1 | c.2117T>C (p.Val706Ala) c.2105T>C (p.Val702Ala) n.3010T>C n.1357T>C n.807T>C c.2297T>C (p.Val766Ala) n.2805T>C c.1838T>C (p.Val613Ala) c.*1763T>C (n.*1763T>C) c.*2084T>C (n.*2084T>C) n.3611T>C c.1844T>C (p.Val615Ala) c.2087T>C (p.Val696Ala) c.*1167T>C (n.*1167T>C) c.1850T>C (p.Val617Ala) c.2111T>C (p.Val704Ala) c.2210T>C (p.Val737Ala) n.4396T>C c.317T>C (p.Val106Ala) c.*1012T>C (n.*1012T>C) c.2093T>C (p.Val698Ala) c.2216T>C (p.Val739Ala) c.1949T>C (p.Val650Ala) c.1943T>C (p.Val648Ala) c.1826T>C (p.Val609Ala) c.2204T>C (p.Val735Ala) c.1937T>C (p.Val646Ala) c.1145T>C (p.Val382Ala) n.2390T>C | COSMIC COSMIC COSMIC COSMIC COSMIC |
8 | g.38414221A>T | CA370728721 | FGFR1 | c.2117T>A (p.Val706Glu) c.2105T>A (p.Val702Glu) n.3010T>A n.1357T>A n.807T>A c.2297T>A (p.Val766Glu) n.2805T>A c.1838T>A (p.Val613Glu) c.*1763T>A (n.*1763T>A) c.*2084T>A (n.*2084T>A) n.3611T>A c.1844T>A (p.Val615Glu) c.2087T>A (p.Val696Glu) c.*1167T>A (n.*1167T>A) c.1850T>A (p.Val617Glu) c.2111T>A (p.Val704Glu) c.2210T>A (p.Val737Glu) n.4396T>A c.317T>A (p.Val106Glu) c.*1012T>A (n.*1012T>A) c.2093T>A (p.Val698Glu) c.2216T>A (p.Val739Glu) c.1949T>A (p.Val650Glu) c.1943T>A (p.Val648Glu) c.1826T>A (p.Val609Glu) c.2204T>A (p.Val735Glu) c.1937T>A (p.Val646Glu) c.1145T>A (p.Val382Glu) n.2390T>A | dbSNP |
8 | g.38414222C>A | CA370728725 | FGFR1 | c.2116G>T (p.Val706Leu) c.2104G>T (p.Val702Leu) n.3009G>T n.1356G>T n.806G>T c.2296G>T (p.Val766Leu) n.2804G>T c.1837G>T (p.Val613Leu) c.*1762G>T (n.*1762G>T) c.*2083G>T (n.*2083G>T) n.3610G>T c.1843G>T (p.Val615Leu) c.2086G>T (p.Val696Leu) c.*1166G>T (n.*1166G>T) c.1849G>T (p.Val617Leu) c.2110G>T (p.Val704Leu) c.2209G>T (p.Val737Leu) n.4395G>T c.316G>T (p.Val106Leu) c.*1011G>T (n.*1011G>T) c.2092G>T (p.Val698Leu) c.2215G>T (p.Val739Leu) c.1948G>T (p.Val650Leu) c.1942G>T (p.Val648Leu) c.1825G>T (p.Val609Leu) c.2203G>T (p.Val735Leu) c.1936G>T (p.Val646Leu) c.1144G>T (p.Val382Leu) n.2389G>T | dbSNP |
8 | g.38414222C>G | CA370728728 | FGFR1 | c.2116G>C (p.Val706Leu) c.2104G>C (p.Val702Leu) n.3009G>C n.1356G>C n.806G>C c.2296G>C (p.Val766Leu) n.2804G>C c.1837G>C (p.Val613Leu) c.*1762G>C (n.*1762G>C) c.*2083G>C (n.*2083G>C) n.3610G>C c.1843G>C (p.Val615Leu) c.2086G>C (p.Val696Leu) c.*1166G>C (n.*1166G>C) c.1849G>C (p.Val617Leu) c.2110G>C (p.Val704Leu) c.2209G>C (p.Val737Leu) n.4395G>C c.316G>C (p.Val106Leu) c.*1011G>C (n.*1011G>C) c.2092G>C (p.Val698Leu) c.2215G>C (p.Val739Leu) c.1948G>C (p.Val650Leu) c.1942G>C (p.Val648Leu) c.1825G>C (p.Val609Leu) c.2203G>C (p.Val735Leu) c.1936G>C (p.Val646Leu) c.1144G>C (p.Val382Leu) n.2389G>C | dbSNP |
8 | g.38414222C>T | CA370728730 | FGFR1 | c.2116G>A (p.Val706Met) c.2104G>A (p.Val702Met) n.3009G>A n.1356G>A n.806G>A c.2296G>A (p.Val766Met) n.2804G>A c.1837G>A (p.Val613Met) c.*1762G>A (n.*1762G>A) c.*2083G>A (n.*2083G>A) n.3610G>A c.1843G>A (p.Val615Met) c.2086G>A (p.Val696Met) c.*1166G>A (n.*1166G>A) c.1849G>A (p.Val617Met) c.2110G>A (p.Val704Met) c.2209G>A (p.Val737Met) n.4395G>A c.316G>A (p.Val106Met) c.*1011G>A (n.*1011G>A) c.2092G>A (p.Val698Met) c.2215G>A (p.Val739Met) c.1948G>A (p.Val650Met) c.1942G>A (p.Val648Met) c.1825G>A (p.Val609Met) c.2203G>A (p.Val735Met) c.1936G>A (p.Val646Met) c.1144G>A (p.Val382Met) n.2389G>A | dbSNP |
8 | g.38414223A>C | CA460499387 | FGFR1 | c.2115T>G (p.Pro705=) c.2103T>G (p.Pro701=) n.3008T>G n.1355T>G n.805T>G c.2295T>G (p.Pro765=) n.2803T>G c.1836T>G (p.Pro612=) c.*1761T>G (n.*1761T>G) c.*2082T>G (n.*2082T>G) n.3609T>G c.1842T>G (p.Pro614=) c.2085T>G (p.Pro695=) c.*1165T>G (n.*1165T>G) c.1848T>G (p.Pro616=) c.2109T>G (p.Pro703=) c.2208T>G (p.Pro736=) n.4394T>G c.315T>G (p.Pro105=) c.*1010T>G (n.*1010T>G) c.2091T>G (p.Pro697=) c.2214T>G (p.Pro738=) c.1947T>G (p.Pro649=) c.1941T>G (p.Pro647=) c.1824T>G (p.Pro608=) c.2202T>G (p.Pro734=) c.1935T>G (p.Pro645=) c.1143T>G (p.Pro381=) n.2388T>G | |
8 | g.38414223A>G | CA460499386 | FGFR1 | c.2115T>C (p.Pro705=) c.2103T>C (p.Pro701=) n.3008T>C n.1355T>C n.805T>C c.2295T>C (p.Pro765=) n.2803T>C c.1836T>C (p.Pro612=) c.*1761T>C (n.*1761T>C) c.*2082T>C (n.*2082T>C) n.3609T>C c.1842T>C (p.Pro614=) c.2085T>C (p.Pro695=) c.*1165T>C (n.*1165T>C) c.1848T>C (p.Pro616=) c.2109T>C (p.Pro703=) c.2208T>C (p.Pro736=) n.4394T>C c.315T>C (p.Pro105=) c.*1010T>C (n.*1010T>C) c.2091T>C (p.Pro697=) c.2214T>C (p.Pro738=) c.1947T>C (p.Pro649=) c.1941T>C (p.Pro647=) c.1824T>C (p.Pro608=) c.2202T>C (p.Pro734=) c.1935T>C (p.Pro645=) c.1143T>C (p.Pro381=) n.2388T>C | dbSNP |
8 | g.38414223A>T | CA460499388 | FGFR1 | c.2115T>A (p.Pro705=) c.2103T>A (p.Pro701=) n.3008T>A n.1355T>A n.805T>A c.2295T>A (p.Pro765=) n.2803T>A c.1836T>A (p.Pro612=) c.*1761T>A (n.*1761T>A) c.*2082T>A (n.*2082T>A) n.3609T>A c.1842T>A (p.Pro614=) c.2085T>A (p.Pro695=) c.*1165T>A (n.*1165T>A) c.1848T>A (p.Pro616=) c.2109T>A (p.Pro703=) c.2208T>A (p.Pro736=) n.4394T>A c.315T>A (p.Pro105=) c.*1010T>A (n.*1010T>A) c.2091T>A (p.Pro697=) c.2214T>A (p.Pro738=) c.1947T>A (p.Pro649=) c.1941T>A (p.Pro647=) c.1824T>A (p.Pro608=) c.2202T>A (p.Pro734=) c.1935T>A (p.Pro645=) c.1143T>A (p.Pro381=) n.2388T>A | dbSNP |
8 | g.38414224G>A | CA370728738 | FGFR1 | c.2114C>T (p.Pro705Leu) c.2102C>T (p.Pro701Leu) n.3007C>T n.1354C>T n.804C>T c.2294C>T (p.Pro765Leu) n.2802C>T c.1835C>T (p.Pro612Leu) c.*1760C>T (n.*1760C>T) c.*2081C>T (n.*2081C>T) n.3608C>T c.1841C>T (p.Pro614Leu) c.2084C>T (p.Pro695Leu) c.*1164C>T (n.*1164C>T) c.1847C>T (p.Pro616Leu) c.2108C>T (p.Pro703Leu) c.2207C>T (p.Pro736Leu) n.4393C>T c.314C>T (p.Pro105Leu) c.*1009C>T (n.*1009C>T) c.2090C>T (p.Pro697Leu) c.2213C>T (p.Pro738Leu) c.1946C>T (p.Pro649Leu) c.1940C>T (p.Pro647Leu) c.1823C>T (p.Pro608Leu) c.2201C>T (p.Pro734Leu) c.1934C>T (p.Pro645Leu) c.1142C>T (p.Pro381Leu) n.2387C>T | dbSNP |
8 | g.38414224G>C | CA370728741 | FGFR1 | c.2114C>G (p.Pro705Arg) c.2102C>G (p.Pro701Arg) n.3007C>G n.1354C>G n.804C>G c.2294C>G (p.Pro765Arg) n.2802C>G c.1835C>G (p.Pro612Arg) c.*1760C>G (n.*1760C>G) c.*2081C>G (n.*2081C>G) n.3608C>G c.1841C>G (p.Pro614Arg) c.2084C>G (p.Pro695Arg) c.*1164C>G (n.*1164C>G) c.1847C>G (p.Pro616Arg) c.2108C>G (p.Pro703Arg) c.2207C>G (p.Pro736Arg) n.4393C>G c.314C>G (p.Pro105Arg) c.*1009C>G (n.*1009C>G) c.2090C>G (p.Pro697Arg) c.2213C>G (p.Pro738Arg) c.1946C>G (p.Pro649Arg) c.1940C>G (p.Pro647Arg) c.1823C>G (p.Pro608Arg) c.2201C>G (p.Pro734Arg) c.1934C>G (p.Pro645Arg) c.1142C>G (p.Pro381Arg) n.2387C>G | dbSNP |
8 | g.38414224G>T | CA370728736 | FGFR1 | c.2114C>A (p.Pro705His) c.2102C>A (p.Pro701His) n.3007C>A n.1354C>A n.804C>A c.2294C>A (p.Pro765His) n.2802C>A c.1835C>A (p.Pro612His) c.*1760C>A (n.*1760C>A) c.*2081C>A (n.*2081C>A) n.3608C>A c.1841C>A (p.Pro614His) c.2084C>A (p.Pro695His) c.*1164C>A (n.*1164C>A) c.1847C>A (p.Pro616His) c.2108C>A (p.Pro703His) c.2207C>A (p.Pro736His) n.4393C>A c.314C>A (p.Pro105His) c.*1009C>A (n.*1009C>A) c.2090C>A (p.Pro697His) c.2213C>A (p.Pro738His) c.1946C>A (p.Pro649His) c.1940C>A (p.Pro647His) c.1823C>A (p.Pro608His) c.2201C>A (p.Pro734His) c.1934C>A (p.Pro645His) c.1142C>A (p.Pro381His) n.2387C>A | |
8 | g.38414225G>A | CA370728746 | FGFR1 | c.2113C>T (p.Pro705Ser) c.2101C>T (p.Pro701Ser) n.3006C>T n.1353C>T n.803C>T c.2293C>T (p.Pro765Ser) n.2801C>T c.1834C>T (p.Pro612Ser) c.*1759C>T (n.*1759C>T) c.*2080C>T (n.*2080C>T) n.3607C>T c.1840C>T (p.Pro614Ser) c.2083C>T (p.Pro695Ser) c.*1163C>T (n.*1163C>T) c.1846C>T (p.Pro616Ser) c.2107C>T (p.Pro703Ser) c.2206C>T (p.Pro736Ser) n.4392C>T c.313C>T (p.Pro105Ser) c.*1008C>T (n.*1008C>T) c.2089C>T (p.Pro697Ser) c.2212C>T (p.Pro738Ser) c.1945C>T (p.Pro649Ser) c.1939C>T (p.Pro647Ser) c.1822C>T (p.Pro608Ser) c.2200C>T (p.Pro734Ser) c.1933C>T (p.Pro645Ser) c.1141C>T (p.Pro381Ser) n.2386C>T | |
8 | g.38414225G>C | CA370728748 | FGFR1 | c.2113C>G (p.Pro705Ala) c.2101C>G (p.Pro701Ala) n.3006C>G n.1353C>G n.803C>G c.2293C>G (p.Pro765Ala) n.2801C>G c.1834C>G (p.Pro612Ala) c.*1759C>G (n.*1759C>G) c.*2080C>G (n.*2080C>G) n.3607C>G c.1840C>G (p.Pro614Ala) c.2083C>G (p.Pro695Ala) c.*1163C>G (n.*1163C>G) c.1846C>G (p.Pro616Ala) c.2107C>G (p.Pro703Ala) c.2206C>G (p.Pro736Ala) n.4392C>G c.313C>G (p.Pro105Ala) c.*1008C>G (n.*1008C>G) c.2089C>G (p.Pro697Ala) c.2212C>G (p.Pro738Ala) c.1945C>G (p.Pro649Ala) c.1939C>G (p.Pro647Ala) c.1822C>G (p.Pro608Ala) c.2200C>G (p.Pro734Ala) c.1933C>G (p.Pro645Ala) c.1141C>G (p.Pro381Ala) n.2386C>G | dbSNP |
8 | g.38414225G>T | CA370728750 | FGFR1 | c.2113C>A (p.Pro705Thr) c.2101C>A (p.Pro701Thr) n.3006C>A n.1353C>A n.803C>A c.2293C>A (p.Pro765Thr) n.2801C>A c.1834C>A (p.Pro612Thr) c.*1759C>A (n.*1759C>A) c.*2080C>A (n.*2080C>A) n.3607C>A c.1840C>A (p.Pro614Thr) c.2083C>A (p.Pro695Thr) c.*1163C>A (n.*1163C>A) c.1846C>A (p.Pro616Thr) c.2107C>A (p.Pro703Thr) c.2206C>A (p.Pro736Thr) n.4392C>A c.313C>A (p.Pro105Thr) c.*1008C>A (n.*1008C>A) c.2089C>A (p.Pro697Thr) c.2212C>A (p.Pro738Thr) c.1945C>A (p.Pro649Thr) c.1939C>A (p.Pro647Thr) c.1822C>A (p.Pro608Thr) c.2200C>A (p.Pro734Thr) c.1933C>A (p.Pro645Thr) c.1141C>A (p.Pro381Thr) n.2386C>A | |
8 | g.38414226C>A | CA460499390 | FGFR1 | c.2112G>T (p.Val704=) c.2100G>T (p.Val700=) n.3005G>T n.1352G>T n.802G>T c.2292G>T (p.Val764=) n.2800G>T c.1833G>T (p.Val611=) c.*1758G>T (n.*1758G>T) c.*2079G>T (n.*2079G>T) n.3606G>T c.1839G>T (p.Val613=) c.2082G>T (p.Val694=) c.*1162G>T (n.*1162G>T) c.1845G>T (p.Val615=) c.2106G>T (p.Val702=) c.2205G>T (p.Val735=) n.4391G>T c.312G>T (p.Val104=) c.*1007G>T (n.*1007G>T) c.2088G>T (p.Val696=) c.2211G>T (p.Val737=) c.1944G>T (p.Val648=) c.1938G>T (p.Val646=) c.1821G>T (p.Val607=) c.2199G>T (p.Val733=) c.1932G>T (p.Val644=) c.1140G>T (p.Val380=) n.2385G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.38414226C= | CA1777533848 | FGFR1 | c.2112G= (p.Val704=) c.2100G= (p.Val700=) n.3005G= n.1352G= n.802G= c.2292G= (p.Val764=) n.2800G= c.1833G= (p.Val611=) c.*1758G= (n.*1758G=) c.*2079G= (n.*2079G=) n.3606G= c.1839G= (p.Val613=) c.2082G= (p.Val694=) c.*1162G= (n.*1162G=) c.1845G= (p.Val615=) c.2106G= (p.Val702=) c.2205G= (p.Val735=) n.4391G= c.312G= (p.Val104=) c.*1007G= (n.*1007G=) c.2088G= (p.Val696=) c.2211G= (p.Val737=) c.1944G= (p.Val648=) c.1938G= (p.Val646=) c.1821G= (p.Val607=) c.2199G= (p.Val733=) c.1932G= (p.Val644=) c.1140G= (p.Val380=) n.2385G= | |
8 | g.38414226C>G | CA460499391 | FGFR1 | c.2112G>C (p.Val704=) c.2100G>C (p.Val700=) n.3005G>C n.1352G>C n.802G>C c.2292G>C (p.Val764=) n.2800G>C c.1833G>C (p.Val611=) c.*1758G>C (n.*1758G>C) c.*2079G>C (n.*2079G>C) n.3606G>C c.1839G>C (p.Val613=) c.2082G>C (p.Val694=) c.*1162G>C (n.*1162G>C) c.1845G>C (p.Val615=) c.2106G>C (p.Val702=) c.2205G>C (p.Val735=) n.4391G>C c.312G>C (p.Val104=) c.*1007G>C (n.*1007G>C) c.2088G>C (p.Val696=) c.2211G>C (p.Val737=) c.1944G>C (p.Val648=) c.1938G>C (p.Val646=) c.1821G>C (p.Val607=) c.2199G>C (p.Val733=) c.1932G>C (p.Val644=) c.1140G>C (p.Val380=) n.2385G>C | dbSNP |
8 | g.38414226C>T | CA460499392 | FGFR1 | c.2112G>A (p.Val704=) c.2100G>A (p.Val700=) n.3005G>A n.1352G>A n.802G>A c.2292G>A (p.Val764=) n.2800G>A c.1833G>A (p.Val611=) c.*1758G>A (n.*1758G>A) c.*2079G>A (n.*2079G>A) n.3606G>A c.1839G>A (p.Val613=) c.2082G>A (p.Val694=) c.*1162G>A (n.*1162G>A) c.1845G>A (p.Val615=) c.2106G>A (p.Val702=) c.2205G>A (p.Val735=) n.4391G>A c.312G>A (p.Val104=) c.*1007G>A (n.*1007G>A) c.2088G>A (p.Val696=) c.2211G>A (p.Val737=) c.1944G>A (p.Val648=) c.1938G>A (p.Val646=) c.1821G>A (p.Val607=) c.2199G>A (p.Val733=) c.1932G>A (p.Val644=) c.1140G>A (p.Val380=) n.2385G>A | dbSNP |
8 | g.38414227A>C | CA370728754 | FGFR1 | c.2111T>G (p.Val704Gly) c.2099T>G (p.Val700Gly) n.3004T>G n.1351T>G n.801T>G c.2291T>G (p.Val764Gly) n.2799T>G c.1832T>G (p.Val611Gly) c.*1757T>G (n.*1757T>G) c.*2078T>G (n.*2078T>G) n.3605T>G c.1838T>G (p.Val613Gly) c.2081T>G (p.Val694Gly) c.*1161T>G (n.*1161T>G) c.1844T>G (p.Val615Gly) c.2105T>G (p.Val702Gly) c.2204T>G (p.Val735Gly) n.4390T>G c.311T>G (p.Val104Gly) c.*1006T>G (n.*1006T>G) c.2087T>G (p.Val696Gly) c.2210T>G (p.Val737Gly) c.1943T>G (p.Val648Gly) c.1937T>G (p.Val646Gly) c.1820T>G (p.Val607Gly) c.2198T>G (p.Val733Gly) c.1931T>G (p.Val644Gly) c.1139T>G (p.Val380Gly) n.2384T>G | dbSNP |
8 | g.38414227A>G | CA370728756 | FGFR1 | c.2111T>C (p.Val704Ala) c.2099T>C (p.Val700Ala) n.3004T>C n.1351T>C n.801T>C c.2291T>C (p.Val764Ala) n.2799T>C c.1832T>C (p.Val611Ala) c.*1757T>C (n.*1757T>C) c.*2078T>C (n.*2078T>C) n.3605T>C c.1838T>C (p.Val613Ala) c.2081T>C (p.Val694Ala) c.*1161T>C (n.*1161T>C) c.1844T>C (p.Val615Ala) c.2105T>C (p.Val702Ala) c.2204T>C (p.Val735Ala) n.4390T>C c.311T>C (p.Val104Ala) c.*1006T>C (n.*1006T>C) c.2087T>C (p.Val696Ala) c.2210T>C (p.Val737Ala) c.1943T>C (p.Val648Ala) c.1937T>C (p.Val646Ala) c.1820T>C (p.Val607Ala) c.2198T>C (p.Val733Ala) c.1931T>C (p.Val644Ala) c.1139T>C (p.Val380Ala) n.2384T>C | |
8 | g.38414227A>T | CA370728758 | FGFR1 | c.2111T>A (p.Val704Glu) c.2099T>A (p.Val700Glu) n.3004T>A n.1351T>A n.801T>A c.2291T>A (p.Val764Glu) n.2799T>A c.1832T>A (p.Val611Glu) c.*1757T>A (n.*1757T>A) c.*2078T>A (n.*2078T>A) n.3605T>A c.1838T>A (p.Val613Glu) c.2081T>A (p.Val694Glu) c.*1161T>A (n.*1161T>A) c.1844T>A (p.Val615Glu) c.2105T>A (p.Val702Glu) c.2204T>A (p.Val735Glu) n.4390T>A c.311T>A (p.Val104Glu) c.*1006T>A (n.*1006T>A) c.2087T>A (p.Val696Glu) c.2210T>A (p.Val737Glu) c.1943T>A (p.Val648Glu) c.1937T>A (p.Val646Glu) c.1820T>A (p.Val607Glu) c.2198T>A (p.Val733Glu) c.1931T>A (p.Val644Glu) c.1139T>A (p.Val380Glu) n.2384T>A | dbSNP |
8 | g.38414228C>A | CA370728761 | FGFR1 | c.2110G>T (p.Val704Leu) c.2098G>T (p.Val700Leu) n.3003G>T n.1350G>T n.800G>T c.2290G>T (p.Val764Leu) n.2798G>T c.1831G>T (p.Val611Leu) c.*1756G>T (n.*1756G>T) c.*2077G>T (n.*2077G>T) n.3604G>T c.1837G>T (p.Val613Leu) c.2080G>T (p.Val694Leu) c.*1160G>T (n.*1160G>T) c.1843G>T (p.Val615Leu) c.2104G>T (p.Val702Leu) c.2203G>T (p.Val735Leu) n.4389G>T c.310G>T (p.Val104Leu) c.*1005G>T (n.*1005G>T) c.2086G>T (p.Val696Leu) c.2209G>T (p.Val737Leu) c.1942G>T (p.Val648Leu) c.1936G>T (p.Val646Leu) c.1819G>T (p.Val607Leu) c.2197G>T (p.Val733Leu) c.1930G>T (p.Val644Leu) c.1138G>T (p.Val380Leu) n.2383G>T | |
8 | g.38414228C>G | CA370728763 | FGFR1 | c.2110G>C (p.Val704Leu) c.2098G>C (p.Val700Leu) n.3003G>C n.1350G>C n.800G>C c.2290G>C (p.Val764Leu) n.2798G>C c.1831G>C (p.Val611Leu) c.*1756G>C (n.*1756G>C) c.*2077G>C (n.*2077G>C) n.3604G>C c.1837G>C (p.Val613Leu) c.2080G>C (p.Val694Leu) c.*1160G>C (n.*1160G>C) c.1843G>C (p.Val615Leu) c.2104G>C (p.Val702Leu) c.2203G>C (p.Val735Leu) n.4389G>C c.310G>C (p.Val104Leu) c.*1005G>C (n.*1005G>C) c.2086G>C (p.Val696Leu) c.2209G>C (p.Val737Leu) c.1942G>C (p.Val648Leu) c.1936G>C (p.Val646Leu) c.1819G>C (p.Val607Leu) c.2197G>C (p.Val733Leu) c.1930G>C (p.Val644Leu) c.1138G>C (p.Val380Leu) n.2383G>C | dbSNP |
8 | g.38414228C>T | CA370728768 | FGFR1 | c.2110G>A (p.Val704Met) c.2098G>A (p.Val700Met) n.3003G>A n.1350G>A n.800G>A c.2290G>A (p.Val764Met) n.2798G>A c.1831G>A (p.Val611Met) c.*1756G>A (n.*1756G>A) c.*2077G>A (n.*2077G>A) n.3604G>A c.1837G>A (p.Val613Met) c.2080G>A (p.Val694Met) c.*1160G>A (n.*1160G>A) c.1843G>A (p.Val615Met) c.2104G>A (p.Val702Met) c.2203G>A (p.Val735Met) n.4389G>A c.310G>A (p.Val104Met) c.*1005G>A (n.*1005G>A) c.2086G>A (p.Val696Met) c.2209G>A (p.Val737Met) c.1942G>A (p.Val648Met) c.1936G>A (p.Val646Met) c.1819G>A (p.Val607Met) c.2197G>A (p.Val733Met) c.1930G>A (p.Val644Met) c.1138G>A (p.Val380Met) n.2383G>A | dbSNP |
8 | g.38414229A= | CA1777533851 | FGFR1 | c.2109T= (p.Gly703=) c.2097T= (p.Gly699=) n.3002T= n.1349T= n.799T= c.2289T= (p.Gly763=) n.2797T= c.1830T= (p.Gly610=) c.*1755T= (n.*1755T=) c.*2076T= (n.*2076T=) n.3603T= c.1836T= (p.Gly612=) c.2079T= (p.Gly693=) c.*1159T= (n.*1159T=) c.1842T= (p.Gly614=) c.2103T= (p.Gly701=) c.2202T= (p.Gly734=) n.4388T= c.309T= (p.Gly103=) c.*1004T= (n.*1004T=) c.2085T= (p.Gly695=) c.2208T= (p.Gly736=) c.1941T= (p.Gly647=) c.1935T= (p.Gly645=) c.1818T= (p.Gly606=) c.2196T= (p.Gly732=) c.1929T= (p.Gly643=) c.1137T= (p.Gly379=) n.2382T= | |
8 | g.38414229A>C | CA460499399 | FGFR1 | c.2109T>G (p.Gly703=) c.2097T>G (p.Gly699=) n.3002T>G n.1349T>G n.799T>G c.2289T>G (p.Gly763=) n.2797T>G c.1830T>G (p.Gly610=) c.*1755T>G (n.*1755T>G) c.*2076T>G (n.*2076T>G) n.3603T>G c.1836T>G (p.Gly612=) c.2079T>G (p.Gly693=) c.*1159T>G (n.*1159T>G) c.1842T>G (p.Gly614=) c.2103T>G (p.Gly701=) c.2202T>G (p.Gly734=) n.4388T>G c.309T>G (p.Gly103=) c.*1004T>G (n.*1004T>G) c.2085T>G (p.Gly695=) c.2208T>G (p.Gly736=) c.1941T>G (p.Gly647=) c.1935T>G (p.Gly645=) c.1818T>G (p.Gly606=) c.2196T>G (p.Gly732=) c.1929T>G (p.Gly643=) c.1137T>G (p.Gly379=) n.2382T>G | dbSNP |
8 | g.38414229A>G | CA460499403 | FGFR1 | c.2109T>C (p.Gly703=) c.2097T>C (p.Gly699=) n.3002T>C n.1349T>C n.799T>C c.2289T>C (p.Gly763=) n.2797T>C c.1830T>C (p.Gly610=) c.*1755T>C (n.*1755T>C) c.*2076T>C (n.*2076T>C) n.3603T>C c.1836T>C (p.Gly612=) c.2079T>C (p.Gly693=) c.*1159T>C (n.*1159T>C) c.1842T>C (p.Gly614=) c.2103T>C (p.Gly701=) c.2202T>C (p.Gly734=) n.4388T>C c.309T>C (p.Gly103=) c.*1004T>C (n.*1004T>C) c.2085T>C (p.Gly695=) c.2208T>C (p.Gly736=) c.1941T>C (p.Gly647=) c.1935T>C (p.Gly645=) c.1818T>C (p.Gly606=) c.2196T>C (p.Gly732=) c.1929T>C (p.Gly643=) c.1137T>C (p.Gly379=) n.2382T>C | dbSNP |
8 | g.38414229A>T | CA460499401 | FGFR1 | c.2109T>A (p.Gly703=) c.2097T>A (p.Gly699=) n.3002T>A n.1349T>A n.799T>A c.2289T>A (p.Gly763=) n.2797T>A c.1830T>A (p.Gly610=) c.*1755T>A (n.*1755T>A) c.*2076T>A (n.*2076T>A) n.3603T>A c.1836T>A (p.Gly612=) c.2079T>A (p.Gly693=) c.*1159T>A (n.*1159T>A) c.1842T>A (p.Gly614=) c.2103T>A (p.Gly701=) c.2202T>A (p.Gly734=) n.4388T>A c.309T>A (p.Gly103=) c.*1004T>A (n.*1004T>A) c.2085T>A (p.Gly695=) c.2208T>A (p.Gly736=) c.1941T>A (p.Gly647=) c.1935T>A (p.Gly645=) c.1818T>A (p.Gly606=) c.2196T>A (p.Gly732=) c.1929T>A (p.Gly643=) c.1137T>A (p.Gly379=) n.2382T>A | dbSNP |
8 | g.38414230C>A | CA370728771 | FGFR1 | c.2108G>T (p.Gly703Val) c.2096G>T (p.Gly699Val) n.3001G>T n.1348G>T n.798G>T c.2288G>T (p.Gly763Val) n.2796G>T c.1829G>T (p.Gly610Val) c.*1754G>T (n.*1754G>T) c.*2075G>T (n.*2075G>T) n.3602G>T c.1835G>T (p.Gly612Val) c.2078G>T (p.Gly693Val) c.*1158G>T (n.*1158G>T) c.1841G>T (p.Gly614Val) c.2102G>T (p.Gly701Val) c.2201G>T (p.Gly734Val) n.4387G>T c.308G>T (p.Gly103Val) c.*1003G>T (n.*1003G>T) c.2084G>T (p.Gly695Val) c.2207G>T (p.Gly736Val) c.1940G>T (p.Gly647Val) c.1934G>T (p.Gly645Val) c.1817G>T (p.Gly606Val) c.2195G>T (p.Gly732Val) c.1928G>T (p.Gly643Val) c.1136G>T (p.Gly379Val) n.2381G>T | dbSNP |
8 | g.38414230C= | CA1777533853 | FGFR1 | c.2108G= (p.Gly703=) c.2096G= (p.Gly699=) n.3001G= n.1348G= n.798G= c.2288G= (p.Gly763=) n.2796G= c.1829G= (p.Gly610=) c.*1754G= (n.*1754G=) c.*2075G= (n.*2075G=) n.3602G= c.1835G= (p.Gly612=) c.2078G= (p.Gly693=) c.*1158G= (n.*1158G=) c.1841G= (p.Gly614=) c.2102G= (p.Gly701=) c.2201G= (p.Gly734=) n.4387G= c.308G= (p.Gly103=) c.*1003G= (n.*1003G=) c.2084G= (p.Gly695=) c.2207G= (p.Gly736=) c.1940G= (p.Gly647=) c.1934G= (p.Gly645=) c.1817G= (p.Gly606=) c.2195G= (p.Gly732=) c.1928G= (p.Gly643=) c.1136G= (p.Gly379=) n.2381G= | |
8 | g.38414230C>G | CA370728773 | FGFR1 | c.2108G>C (p.Gly703Ala) c.2096G>C (p.Gly699Ala) n.3001G>C n.1348G>C n.798G>C c.2288G>C (p.Gly763Ala) n.2796G>C c.1829G>C (p.Gly610Ala) c.*1754G>C (n.*1754G>C) c.*2075G>C (n.*2075G>C) n.3602G>C c.1835G>C (p.Gly612Ala) c.2078G>C (p.Gly693Ala) c.*1158G>C (n.*1158G>C) c.1841G>C (p.Gly614Ala) c.2102G>C (p.Gly701Ala) c.2201G>C (p.Gly734Ala) n.4387G>C c.308G>C (p.Gly103Ala) c.*1003G>C (n.*1003G>C) c.2084G>C (p.Gly695Ala) c.2207G>C (p.Gly736Ala) c.1940G>C (p.Gly647Ala) c.1934G>C (p.Gly645Ala) c.1817G>C (p.Gly606Ala) c.2195G>C (p.Gly732Ala) c.1928G>C (p.Gly643Ala) c.1136G>C (p.Gly379Ala) n.2381G>C | dbSNP gnomAD v2 gnomAD v4 |
8 | g.38414230C>T | CA370728776 | FGFR1 | c.2108G>A (p.Gly703Asp) c.2096G>A (p.Gly699Asp) n.3001G>A n.1348G>A n.798G>A c.2288G>A (p.Gly763Asp) n.2796G>A c.1829G>A (p.Gly610Asp) c.*1754G>A (n.*1754G>A) c.*2075G>A (n.*2075G>A) n.3602G>A c.1835G>A (p.Gly612Asp) c.2078G>A (p.Gly693Asp) c.*1158G>A (n.*1158G>A) c.1841G>A (p.Gly614Asp) c.2102G>A (p.Gly701Asp) c.2201G>A (p.Gly734Asp) n.4387G>A c.308G>A (p.Gly103Asp) c.*1003G>A (n.*1003G>A) c.2084G>A (p.Gly695Asp) c.2207G>A (p.Gly736Asp) c.1940G>A (p.Gly647Asp) c.1934G>A (p.Gly645Asp) c.1817G>A (p.Gly606Asp) c.2195G>A (p.Gly732Asp) c.1928G>A (p.Gly643Asp) c.1136G>A (p.Gly379Asp) n.2381G>A | dbSNP |
8 | g.38414231C>A | CA370728779 | FGFR1 | c.2107G>T (p.Gly703Cys) c.2095G>T (p.Gly699Cys) n.3000G>T n.1347G>T n.797G>T c.2287G>T (p.Gly763Cys) n.2795G>T c.1828G>T (p.Gly610Cys) c.*1753G>T (n.*1753G>T) c.*2074G>T (n.*2074G>T) n.3601G>T c.1834G>T (p.Gly612Cys) c.2077G>T (p.Gly693Cys) c.*1157G>T (n.*1157G>T) c.1840G>T (p.Gly614Cys) c.2101G>T (p.Gly701Cys) c.2200G>T (p.Gly734Cys) n.4386G>T c.307G>T (p.Gly103Cys) c.*1002G>T (n.*1002G>T) c.2083G>T (p.Gly695Cys) c.2206G>T (p.Gly736Cys) c.1939G>T (p.Gly647Cys) c.1933G>T (p.Gly645Cys) c.1816G>T (p.Gly606Cys) c.2194G>T (p.Gly732Cys) c.1927G>T (p.Gly643Cys) c.1135G>T (p.Gly379Cys) n.2380G>T | dbSNP |
8 | g.38414231C= | CA1777533855 | FGFR1 | c.2107G= (p.Gly703=) c.2095G= (p.Gly699=) n.3000G= n.1347G= n.797G= c.2287G= (p.Gly763=) n.2795G= c.1828G= (p.Gly610=) c.*1753G= (n.*1753G=) c.*2074G= (n.*2074G=) n.3601G= c.1834G= (p.Gly612=) c.2077G= (p.Gly693=) c.*1157G= (n.*1157G=) c.1840G= (p.Gly614=) c.2101G= (p.Gly701=) c.2200G= (p.Gly734=) n.4386G= c.307G= (p.Gly103=) c.*1002G= (n.*1002G=) c.2083G= (p.Gly695=) c.2206G= (p.Gly736=) c.1939G= (p.Gly647=) c.1933G= (p.Gly645=) c.1816G= (p.Gly606=) c.2194G= (p.Gly732=) c.1927G= (p.Gly643=) c.1135G= (p.Gly379=) n.2380G= | |
8 | g.38414231C>G | CA370728782 | FGFR1 | c.2107G>C (p.Gly703Arg) c.2095G>C (p.Gly699Arg) n.3000G>C n.1347G>C n.797G>C c.2287G>C (p.Gly763Arg) n.2795G>C c.1828G>C (p.Gly610Arg) c.*1753G>C (n.*1753G>C) c.*2074G>C (n.*2074G>C) n.3601G>C c.1834G>C (p.Gly612Arg) c.2077G>C (p.Gly693Arg) c.*1157G>C (n.*1157G>C) c.1840G>C (p.Gly614Arg) c.2101G>C (p.Gly701Arg) c.2200G>C (p.Gly734Arg) n.4386G>C c.307G>C (p.Gly103Arg) c.*1002G>C (n.*1002G>C) c.2083G>C (p.Gly695Arg) c.2206G>C (p.Gly736Arg) c.1939G>C (p.Gly647Arg) c.1933G>C (p.Gly645Arg) c.1816G>C (p.Gly606Arg) c.2194G>C (p.Gly732Arg) c.1927G>C (p.Gly643Arg) c.1135G>C (p.Gly379Arg) n.2380G>C | ClinVar dbSNP |
8 | g.38414231C>T | CA4718176 | FGFR1 | c.2107G>A (p.Gly703Ser) c.2095G>A (p.Gly699Ser) n.3000G>A n.1347G>A n.797G>A c.2287G>A (p.Gly763Ser) n.2795G>A c.1828G>A (p.Gly610Ser) c.*1753G>A (n.*1753G>A) c.*2074G>A (n.*2074G>A) n.3601G>A c.1834G>A (p.Gly612Ser) c.2077G>A (p.Gly693Ser) c.*1157G>A (n.*1157G>A) c.1840G>A (p.Gly614Ser) c.2101G>A (p.Gly701Ser) c.2200G>A (p.Gly734Ser) n.4386G>A c.307G>A (p.Gly103Ser) c.*1002G>A (n.*1002G>A) c.2083G>A (p.Gly695Ser) c.2206G>A (p.Gly736Ser) c.1939G>A (p.Gly647Ser) c.1933G>A (p.Gly645Ser) c.1816G>A (p.Gly606Ser) c.2194G>A (p.Gly732Ser) c.1927G>A (p.Gly643Ser) c.1135G>A (p.Gly379Ser) n.2380G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
8 | g.38414232G>A | CA4718177 | FGFR1 | c.2106C>T (p.Pro702=) c.2094C>T (p.Pro698=) n.2999C>T n.1346C>T n.796C>T c.2286C>T (p.Pro762=) n.2794C>T c.1827C>T (p.Pro609=) c.*1752C>T (n.*1752C>T) c.*2073C>T (n.*2073C>T) n.3600C>T c.1833C>T (p.Pro611=) c.2076C>T (p.Pro692=) c.*1156C>T (n.*1156C>T) c.1839C>T (p.Pro613=) c.2100C>T (p.Pro700=) c.2199C>T (p.Pro733=) n.4385C>T c.306C>T (p.Pro102=) c.*1001C>T (n.*1001C>T) c.2082C>T (p.Pro694=) c.2205C>T (p.Pro735=) c.1938C>T (p.Pro646=) c.1932C>T (p.Pro644=) c.1815C>T (p.Pro605=) c.2193C>T (p.Pro731=) c.1926C>T (p.Pro642=) c.1134C>T (p.Pro378=) n.2379C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.38414232G>C | CA460499406 | FGFR1 | c.2106C>G (p.Pro702=) c.2094C>G (p.Pro698=) n.2999C>G n.1346C>G n.796C>G c.2286C>G (p.Pro762=) n.2794C>G c.1827C>G (p.Pro609=) c.*1752C>G (n.*1752C>G) c.*2073C>G (n.*2073C>G) n.3600C>G c.1833C>G (p.Pro611=) c.2076C>G (p.Pro692=) c.*1156C>G (n.*1156C>G) c.1839C>G (p.Pro613=) c.2100C>G (p.Pro700=) c.2199C>G (p.Pro733=) n.4385C>G c.306C>G (p.Pro102=) c.*1001C>G (n.*1001C>G) c.2082C>G (p.Pro694=) c.2205C>G (p.Pro735=) c.1938C>G (p.Pro646=) c.1932C>G (p.Pro644=) c.1815C>G (p.Pro605=) c.2193C>G (p.Pro731=) c.1926C>G (p.Pro642=) c.1134C>G (p.Pro378=) n.2379C>G | dbSNP |
8 | g.38414232G= | CA1777533859 | FGFR1 | c.2106C= (p.Pro702=) c.2094C= (p.Pro698=) n.2999C= n.1346C= n.796C= c.2286C= (p.Pro762=) n.2794C= c.1827C= (p.Pro609=) c.*1752C= (n.*1752C=) c.*2073C= (n.*2073C=) n.3600C= c.1833C= (p.Pro611=) c.2076C= (p.Pro692=) c.*1156C= (n.*1156C=) c.1839C= (p.Pro613=) c.2100C= (p.Pro700=) c.2199C= (p.Pro733=) n.4385C= c.306C= (p.Pro102=) c.*1001C= (n.*1001C=) c.2082C= (p.Pro694=) c.2205C= (p.Pro735=) c.1938C= (p.Pro646=) c.1932C= (p.Pro644=) c.1815C= (p.Pro605=) c.2193C= (p.Pro731=) c.1926C= (p.Pro642=) c.1134C= (p.Pro378=) n.2379C= | |
8 | g.38414232G>T | CA460499408 | FGFR1 | c.2106C>A (p.Pro702=) c.2094C>A (p.Pro698=) n.2999C>A n.1346C>A n.796C>A c.2286C>A (p.Pro762=) n.2794C>A c.1827C>A (p.Pro609=) c.*1752C>A (n.*1752C>A) c.*2073C>A (n.*2073C>A) n.3600C>A c.1833C>A (p.Pro611=) c.2076C>A (p.Pro692=) c.*1156C>A (n.*1156C>A) c.1839C>A (p.Pro613=) c.2100C>A (p.Pro700=) c.2199C>A (p.Pro733=) n.4385C>A c.306C>A (p.Pro102=) c.*1001C>A (n.*1001C>A) c.2082C>A (p.Pro694=) c.2205C>A (p.Pro735=) c.1938C>A (p.Pro646=) c.1932C>A (p.Pro644=) c.1815C>A (p.Pro605=) c.2193C>A (p.Pro731=) c.1926C>A (p.Pro642=) c.1134C>A (p.Pro378=) n.2379C>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.38414233G>A | CA370728790 | FGFR1 | c.2105C>T (p.Pro702Leu) c.2093C>T (p.Pro698Leu) n.2998C>T n.1345C>T n.795C>T c.2285C>T (p.Pro762Leu) n.2793C>T c.1826C>T (p.Pro609Leu) c.*1751C>T (n.*1751C>T) c.*2072C>T (n.*2072C>T) n.3599C>T c.1832C>T (p.Pro611Leu) c.2075C>T (p.Pro692Leu) c.*1155C>T (n.*1155C>T) c.1838C>T (p.Pro613Leu) c.2099C>T (p.Pro700Leu) c.2198C>T (p.Pro733Leu) n.4384C>T c.305C>T (p.Pro102Leu) c.*1000C>T (n.*1000C>T) c.2081C>T (p.Pro694Leu) c.2204C>T (p.Pro735Leu) c.1937C>T (p.Pro646Leu) c.1931C>T (p.Pro644Leu) c.1814C>T (p.Pro605Leu) c.2192C>T (p.Pro731Leu) c.1925C>T (p.Pro642Leu) c.1133C>T (p.Pro378Leu) n.2378C>T | dbSNP |
8 | g.38414233G>C | CA370728792 | FGFR1 | c.2105C>G (p.Pro702Arg) c.2093C>G (p.Pro698Arg) n.2998C>G n.1345C>G n.795C>G c.2285C>G (p.Pro762Arg) n.2793C>G c.1826C>G (p.Pro609Arg) c.*1751C>G (n.*1751C>G) c.*2072C>G (n.*2072C>G) n.3599C>G c.1832C>G (p.Pro611Arg) c.2075C>G (p.Pro692Arg) c.*1155C>G (n.*1155C>G) c.1838C>G (p.Pro613Arg) c.2099C>G (p.Pro700Arg) c.2198C>G (p.Pro733Arg) n.4384C>G c.305C>G (p.Pro102Arg) c.*1000C>G (n.*1000C>G) c.2081C>G (p.Pro694Arg) c.2204C>G (p.Pro735Arg) c.1937C>G (p.Pro646Arg) c.1931C>G (p.Pro644Arg) c.1814C>G (p.Pro605Arg) c.2192C>G (p.Pro731Arg) c.1925C>G (p.Pro642Arg) c.1133C>G (p.Pro378Arg) n.2378C>G | dbSNP |
8 | g.38414233G>T | CA370728794 | FGFR1 | c.2105C>A (p.Pro702His) c.2093C>A (p.Pro698His) n.2998C>A n.1345C>A n.795C>A c.2285C>A (p.Pro762His) n.2793C>A c.1826C>A (p.Pro609His) c.*1751C>A (n.*1751C>A) c.*2072C>A (n.*2072C>A) n.3599C>A c.1832C>A (p.Pro611His) c.2075C>A (p.Pro692His) c.*1155C>A (n.*1155C>A) c.1838C>A (p.Pro613His) c.2099C>A (p.Pro700His) c.2198C>A (p.Pro733His) n.4384C>A c.305C>A (p.Pro102His) c.*1000C>A (n.*1000C>A) c.2081C>A (p.Pro694His) c.2204C>A (p.Pro735His) c.1937C>A (p.Pro646His) c.1931C>A (p.Pro644His) c.1814C>A (p.Pro605His) c.2192C>A (p.Pro731His) c.1925C>A (p.Pro642His) c.1133C>A (p.Pro378His) n.2378C>A | dbSNP |
8 | g.38414234G>A | CA370728798 | FGFR1 | c.2104C>T (p.Pro702Ser) c.2092C>T (p.Pro698Ser) n.2997C>T n.1344C>T n.794C>T c.2284C>T (p.Pro762Ser) n.2792C>T c.1825C>T (p.Pro609Ser) c.*1750C>T (n.*1750C>T) c.*2071C>T (n.*2071C>T) n.3598C>T c.1831C>T (p.Pro611Ser) c.2074C>T (p.Pro692Ser) c.*1154C>T (n.*1154C>T) c.1837C>T (p.Pro613Ser) c.2098C>T (p.Pro700Ser) c.2197C>T (p.Pro733Ser) n.4383C>T c.304C>T (p.Pro102Ser) c.*999C>T (n.*999C>T) c.2080C>T (p.Pro694Ser) c.2203C>T (p.Pro735Ser) c.1936C>T (p.Pro646Ser) c.1930C>T (p.Pro644Ser) c.1813C>T (p.Pro605Ser) c.2191C>T (p.Pro731Ser) c.1924C>T (p.Pro642Ser) c.1132C>T (p.Pro378Ser) n.2377C>T | dbSNP |
8 | g.38414234G>C | CA370728801 | FGFR1 | c.2104C>G (p.Pro702Ala) c.2092C>G (p.Pro698Ala) n.2997C>G n.1344C>G n.794C>G c.2284C>G (p.Pro762Ala) n.2792C>G c.1825C>G (p.Pro609Ala) c.*1750C>G (n.*1750C>G) c.*2071C>G (n.*2071C>G) n.3598C>G c.1831C>G (p.Pro611Ala) c.2074C>G (p.Pro692Ala) c.*1154C>G (n.*1154C>G) c.1837C>G (p.Pro613Ala) c.2098C>G (p.Pro700Ala) c.2197C>G (p.Pro733Ala) n.4383C>G c.304C>G (p.Pro102Ala) c.*999C>G (n.*999C>G) c.2080C>G (p.Pro694Ala) c.2203C>G (p.Pro735Ala) c.1936C>G (p.Pro646Ala) c.1930C>G (p.Pro644Ala) c.1813C>G (p.Pro605Ala) c.2191C>G (p.Pro731Ala) c.1924C>G (p.Pro642Ala) c.1132C>G (p.Pro378Ala) n.2377C>G | dbSNP |
8 | g.38414234G>T | CA370728805 | FGFR1 | c.2104C>A (p.Pro702Thr) c.2092C>A (p.Pro698Thr) n.2997C>A n.1344C>A n.794C>A c.2284C>A (p.Pro762Thr) n.2792C>A c.1825C>A (p.Pro609Thr) c.*1750C>A (n.*1750C>A) c.*2071C>A (n.*2071C>A) n.3598C>A c.1831C>A (p.Pro611Thr) c.2074C>A (p.Pro692Thr) c.*1154C>A (n.*1154C>A) c.1837C>A (p.Pro613Thr) c.2098C>A (p.Pro700Thr) c.2197C>A (p.Pro733Thr) n.4383C>A c.304C>A (p.Pro102Thr) c.*999C>A (n.*999C>A) c.2080C>A (p.Pro694Thr) c.2203C>A (p.Pro735Thr) c.1936C>A (p.Pro646Thr) c.1930C>A (p.Pro644Thr) c.1813C>A (p.Pro605Thr) c.2191C>A (p.Pro731Thr) c.1924C>A (p.Pro642Thr) c.1132C>A (p.Pro378Thr) n.2377C>A | gnomAD v4 |
8 | g.38414235G>A | CA460499411 | FGFR1 | c.2103C>T (p.Tyr701=) c.2091C>T (p.Tyr697=) n.2996C>T n.1343C>T n.793C>T c.2283C>T (p.Tyr761=) n.2791C>T c.1824C>T (p.Tyr608=) c.*1749C>T (n.*1749C>T) c.*2070C>T (n.*2070C>T) n.3597C>T c.1830C>T (p.Tyr610=) c.2073C>T (p.Tyr691=) c.*1153C>T (n.*1153C>T) c.1836C>T (p.Tyr612=) c.2097C>T (p.Tyr699=) c.2196C>T (p.Tyr732=) n.4382C>T c.303C>T (p.Tyr101=) c.*998C>T (n.*998C>T) c.2079C>T (p.Tyr693=) c.2202C>T (p.Tyr734=) c.1935C>T (p.Tyr645=) c.1929C>T (p.Tyr643=) c.1812C>T (p.Tyr604=) c.2190C>T (p.Tyr730=) c.1923C>T (p.Tyr641=) c.1131C>T (p.Tyr377=) n.2376C>T | dbSNP |
8 | g.38414235G>C | CA370728809 | FGFR1 | c.2103C>G (p.Tyr701Ter) c.2091C>G (p.Tyr697Ter) n.2996C>G n.1343C>G n.793C>G c.2283C>G (p.Tyr761Ter) n.2791C>G c.1824C>G (p.Tyr608Ter) c.*1749C>G (n.*1749C>G) c.*2070C>G (n.*2070C>G) n.3597C>G c.1830C>G (p.Tyr610Ter) c.2073C>G (p.Tyr691Ter) c.*1153C>G (n.*1153C>G) c.1836C>G (p.Tyr612Ter) c.2097C>G (p.Tyr699Ter) c.2196C>G (p.Tyr732Ter) n.4382C>G c.303C>G (p.Tyr101Ter) c.*998C>G (n.*998C>G) c.2079C>G (p.Tyr693Ter) c.2202C>G (p.Tyr734Ter) c.1935C>G (p.Tyr645Ter) c.1929C>G (p.Tyr643Ter) c.1812C>G (p.Tyr604Ter) c.2190C>G (p.Tyr730Ter) c.1923C>G (p.Tyr641Ter) c.1131C>G (p.Tyr377Ter) n.2376C>G | dbSNP |
8 | g.38414235G>T | CA370728814 | FGFR1 | c.2103C>A (p.Tyr701Ter) c.2091C>A (p.Tyr697Ter) n.2996C>A n.1343C>A n.793C>A c.2283C>A (p.Tyr761Ter) n.2791C>A c.1824C>A (p.Tyr608Ter) c.*1749C>A (n.*1749C>A) c.*2070C>A (n.*2070C>A) n.3597C>A c.1830C>A (p.Tyr610Ter) c.2073C>A (p.Tyr691Ter) c.*1153C>A (n.*1153C>A) c.1836C>A (p.Tyr612Ter) c.2097C>A (p.Tyr699Ter) c.2196C>A (p.Tyr732Ter) n.4382C>A c.303C>A (p.Tyr101Ter) c.*998C>A (n.*998C>A) c.2079C>A (p.Tyr693Ter) c.2202C>A (p.Tyr734Ter) c.1935C>A (p.Tyr645Ter) c.1929C>A (p.Tyr643Ter) c.1812C>A (p.Tyr604Ter) c.2190C>A (p.Tyr730Ter) c.1923C>A (p.Tyr641Ter) c.1131C>A (p.Tyr377Ter) n.2376C>A | |
8 | g.38414236T>A | CA370728817 | FGFR1 | c.2102A>T (p.Tyr701Phe) c.2090A>T (p.Tyr697Phe) n.2995A>T n.1342A>T n.792A>T c.2282A>T (p.Tyr761Phe) n.2790A>T c.1823A>T (p.Tyr608Phe) c.*1748A>T (n.*1748A>T) c.*2069A>T (n.*2069A>T) n.3596A>T c.1829A>T (p.Tyr610Phe) c.2072A>T (p.Tyr691Phe) c.*1152A>T (n.*1152A>T) c.1835A>T (p.Tyr612Phe) c.2096A>T (p.Tyr699Phe) c.2195A>T (p.Tyr732Phe) n.4381A>T c.302A>T (p.Tyr101Phe) c.*997A>T (n.*997A>T) c.2078A>T (p.Tyr693Phe) c.2201A>T (p.Tyr734Phe) c.1934A>T (p.Tyr645Phe) c.1928A>T (p.Tyr643Phe) c.1811A>T (p.Tyr604Phe) c.2189A>T (p.Tyr730Phe) c.1922A>T (p.Tyr641Phe) c.1130A>T (p.Tyr377Phe) n.2375A>T | dbSNP |
8 | g.38414236T>C | CA370728819 | FGFR1 | c.2102A>G (p.Tyr701Cys) c.2090A>G (p.Tyr697Cys) n.2995A>G n.1342A>G n.792A>G c.2282A>G (p.Tyr761Cys) n.2790A>G c.1823A>G (p.Tyr608Cys) c.*1748A>G (n.*1748A>G) c.*2069A>G (n.*2069A>G) n.3596A>G c.1829A>G (p.Tyr610Cys) c.2072A>G (p.Tyr691Cys) c.*1152A>G (n.*1152A>G) c.1835A>G (p.Tyr612Cys) c.2096A>G (p.Tyr699Cys) c.2195A>G (p.Tyr732Cys) n.4381A>G c.302A>G (p.Tyr101Cys) c.*997A>G (n.*997A>G) c.2078A>G (p.Tyr693Cys) c.2201A>G (p.Tyr734Cys) c.1934A>G (p.Tyr645Cys) c.1928A>G (p.Tyr643Cys) c.1811A>G (p.Tyr604Cys) c.2189A>G (p.Tyr730Cys) c.1922A>G (p.Tyr641Cys) c.1130A>G (p.Tyr377Cys) n.2375A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.38414236T>G | CA370728825 | FGFR1 | c.2102A>C (p.Tyr701Ser) c.2090A>C (p.Tyr697Ser) n.2995A>C n.1342A>C n.792A>C c.2282A>C (p.Tyr761Ser) n.2790A>C c.1823A>C (p.Tyr608Ser) c.*1748A>C (n.*1748A>C) c.*2069A>C (n.*2069A>C) n.3596A>C c.1829A>C (p.Tyr610Ser) c.2072A>C (p.Tyr691Ser) c.*1152A>C (n.*1152A>C) c.1835A>C (p.Tyr612Ser) c.2096A>C (p.Tyr699Ser) c.2195A>C (p.Tyr732Ser) n.4381A>C c.302A>C (p.Tyr101Ser) c.*997A>C (n.*997A>C) c.2078A>C (p.Tyr693Ser) c.2201A>C (p.Tyr734Ser) c.1934A>C (p.Tyr645Ser) c.1928A>C (p.Tyr643Ser) c.1811A>C (p.Tyr604Ser) c.2189A>C (p.Tyr730Ser) c.1922A>C (p.Tyr641Ser) c.1130A>C (p.Tyr377Ser) n.2375A>C | dbSNP |
8 | g.38414236T= | CA1777533860 | FGFR1 | c.2102A= (p.Tyr701=) c.2090A= (p.Tyr697=) n.2995A= n.1342A= n.792A= c.2282A= (p.Tyr761=) n.2790A= c.1823A= (p.Tyr608=) c.*1748A= (n.*1748A=) c.*2069A= (n.*2069A=) n.3596A= c.1829A= (p.Tyr610=) c.2072A= (p.Tyr691=) c.*1152A= (n.*1152A=) c.1835A= (p.Tyr612=) c.2096A= (p.Tyr699=) c.2195A= (p.Tyr732=) n.4381A= c.302A= (p.Tyr101=) c.*997A= (n.*997A=) c.2078A= (p.Tyr693=) c.2201A= (p.Tyr734=) c.1934A= (p.Tyr645=) c.1928A= (p.Tyr643=) c.1811A= (p.Tyr604=) c.2189A= (p.Tyr730=) c.1922A= (p.Tyr641=) c.1130A= (p.Tyr377=) n.2375A= | |
8 | g.38414237A>C | CA370728830 | FGFR1 | c.2101T>G (p.Tyr701Asp) c.2089T>G (p.Tyr697Asp) n.2994T>G n.1341T>G n.791T>G c.2281T>G (p.Tyr761Asp) n.2789T>G c.1822T>G (p.Tyr608Asp) c.*1747T>G (n.*1747T>G) c.*2068T>G (n.*2068T>G) n.3595T>G c.1828T>G (p.Tyr610Asp) c.2071T>G (p.Tyr691Asp) c.*1151T>G (n.*1151T>G) c.1834T>G (p.Tyr612Asp) c.2095T>G (p.Tyr699Asp) c.2194T>G (p.Tyr732Asp) n.4380T>G c.301T>G (p.Tyr101Asp) c.*996T>G (n.*996T>G) c.2077T>G (p.Tyr693Asp) c.2200T>G (p.Tyr734Asp) c.1933T>G (p.Tyr645Asp) c.1927T>G (p.Tyr643Asp) c.1810T>G (p.Tyr604Asp) c.2188T>G (p.Tyr730Asp) c.1921T>G (p.Tyr641Asp) c.1129T>G (p.Tyr377Asp) n.2374T>G | dbSNP |
8 | g.38414237A>G | CA370728832 | FGFR1 | c.2101T>C (p.Tyr701His) c.2089T>C (p.Tyr697His) n.2994T>C n.1341T>C n.791T>C c.2281T>C (p.Tyr761His) n.2789T>C c.1822T>C (p.Tyr608His) c.*1747T>C (n.*1747T>C) c.*2068T>C (n.*2068T>C) n.3595T>C c.1828T>C (p.Tyr610His) c.2071T>C (p.Tyr691His) c.*1151T>C (n.*1151T>C) c.1834T>C (p.Tyr612His) c.2095T>C (p.Tyr699His) c.2194T>C (p.Tyr732His) n.4380T>C c.301T>C (p.Tyr101His) c.*996T>C (n.*996T>C) c.2077T>C (p.Tyr693His) c.2200T>C (p.Tyr734His) c.1933T>C (p.Tyr645His) c.1927T>C (p.Tyr643His) c.1810T>C (p.Tyr604His) c.2188T>C (p.Tyr730His) c.1921T>C (p.Tyr641His) c.1129T>C (p.Tyr377His) n.2374T>C | dbSNP |
8 | g.38414237A>T | CA370728836 | FGFR1 | c.2101T>A (p.Tyr701Asn) c.2089T>A (p.Tyr697Asn) n.2994T>A n.1341T>A n.791T>A c.2281T>A (p.Tyr761Asn) n.2789T>A c.1822T>A (p.Tyr608Asn) c.*1747T>A (n.*1747T>A) c.*2068T>A (n.*2068T>A) n.3595T>A c.1828T>A (p.Tyr610Asn) c.2071T>A (p.Tyr691Asn) c.*1151T>A (n.*1151T>A) c.1834T>A (p.Tyr612Asn) c.2095T>A (p.Tyr699Asn) c.2194T>A (p.Tyr732Asn) n.4380T>A c.301T>A (p.Tyr101Asn) c.*996T>A (n.*996T>A) c.2077T>A (p.Tyr693Asn) c.2200T>A (p.Tyr734Asn) c.1933T>A (p.Tyr645Asn) c.1927T>A (p.Tyr643Asn) c.1810T>A (p.Tyr604Asn) c.2188T>A (p.Tyr730Asn) c.1921T>A (p.Tyr641Asn) c.1129T>A (p.Tyr377Asn) n.2374T>A | |
8 | g.38414238T>A | CA460499421 | FGFR1 | c.2100A>T (p.Pro700=) c.2088A>T (p.Pro696=) n.2993A>T n.1340A>T n.790A>T c.2280A>T (p.Pro760=) n.2788A>T c.1821A>T (p.Pro607=) c.*1746A>T (n.*1746A>T) c.*2067A>T (n.*2067A>T) n.3594A>T c.1827A>T (p.Pro609=) c.2070A>T (p.Pro690=) c.*1150A>T (n.*1150A>T) c.1833A>T (p.Pro611=) c.2094A>T (p.Pro698=) c.2193A>T (p.Pro731=) n.4379A>T c.300A>T (p.Pro100=) c.*995A>T (n.*995A>T) c.2076A>T (p.Pro692=) c.2199A>T (p.Pro733=) c.1932A>T (p.Pro644=) c.1926A>T (p.Pro642=) c.1809A>T (p.Pro603=) c.2187A>T (p.Pro729=) c.1920A>T (p.Pro640=) c.1128A>T (p.Pro376=) n.2373A>T | |
8 | g.38414238T>C | CA460499418 | FGFR1 | c.2100A>G (p.Pro700=) c.2088A>G (p.Pro696=) n.2993A>G n.1340A>G n.790A>G c.2280A>G (p.Pro760=) n.2788A>G c.1821A>G (p.Pro607=) c.*1746A>G (n.*1746A>G) c.*2067A>G (n.*2067A>G) n.3594A>G c.1827A>G (p.Pro609=) c.2070A>G (p.Pro690=) c.*1150A>G (n.*1150A>G) c.1833A>G (p.Pro611=) c.2094A>G (p.Pro698=) c.2193A>G (p.Pro731=) n.4379A>G c.300A>G (p.Pro100=) c.*995A>G (n.*995A>G) c.2076A>G (p.Pro692=) c.2199A>G (p.Pro733=) c.1932A>G (p.Pro644=) c.1926A>G (p.Pro642=) c.1809A>G (p.Pro603=) c.2187A>G (p.Pro729=) c.1920A>G (p.Pro640=) c.1128A>G (p.Pro376=) n.2373A>G | |
8 | g.38414238T>G | CA460499419 | FGFR1 | c.2100A>C (p.Pro700=) c.2088A>C (p.Pro696=) n.2993A>C n.1340A>C n.790A>C c.2280A>C (p.Pro760=) n.2788A>C c.1821A>C (p.Pro607=) c.*1746A>C (n.*1746A>C) c.*2067A>C (n.*2067A>C) n.3594A>C c.1827A>C (p.Pro609=) c.2070A>C (p.Pro690=) c.*1150A>C (n.*1150A>C) c.1833A>C (p.Pro611=) c.2094A>C (p.Pro698=) c.2193A>C (p.Pro731=) n.4379A>C c.300A>C (p.Pro100=) c.*995A>C (n.*995A>C) c.2076A>C (p.Pro692=) c.2199A>C (p.Pro733=) c.1932A>C (p.Pro644=) c.1926A>C (p.Pro642=) c.1809A>C (p.Pro603=) c.2187A>C (p.Pro729=) c.1920A>C (p.Pro640=) c.1128A>C (p.Pro376=) n.2373A>C | |
8 | g.38414239G>A | CA370728841 | FGFR1 | c.2099C>T (p.Pro700Leu) c.2087C>T (p.Pro696Leu) n.2992C>T n.1339C>T n.789C>T c.2279C>T (p.Pro760Leu) n.2787C>T c.1820C>T (p.Pro607Leu) c.*1745C>T (n.*1745C>T) c.*2066C>T (n.*2066C>T) n.3593C>T c.1826C>T (p.Pro609Leu) c.2069C>T (p.Pro690Leu) c.*1149C>T (n.*1149C>T) c.1832C>T (p.Pro611Leu) c.2093C>T (p.Pro698Leu) c.2192C>T (p.Pro731Leu) n.4378C>T c.299C>T (p.Pro100Leu) c.*994C>T (n.*994C>T) c.2075C>T (p.Pro692Leu) c.2198C>T (p.Pro733Leu) c.1931C>T (p.Pro644Leu) c.1925C>T (p.Pro642Leu) c.1808C>T (p.Pro603Leu) c.2186C>T (p.Pro729Leu) c.1919C>T (p.Pro640Leu) c.1127C>T (p.Pro376Leu) n.2372C>T | ClinVar dbSNP gnomAD v4 |
8 | g.38414239G>C | CA370728847 | FGFR1 | c.2099C>G (p.Pro700Arg) c.2087C>G (p.Pro696Arg) n.2992C>G n.1339C>G n.789C>G c.2279C>G (p.Pro760Arg) n.2787C>G c.1820C>G (p.Pro607Arg) c.*1745C>G (n.*1745C>G) c.*2066C>G (n.*2066C>G) n.3593C>G c.1826C>G (p.Pro609Arg) c.2069C>G (p.Pro690Arg) c.*1149C>G (n.*1149C>G) c.1832C>G (p.Pro611Arg) c.2093C>G (p.Pro698Arg) c.2192C>G (p.Pro731Arg) n.4378C>G c.299C>G (p.Pro100Arg) c.*994C>G (n.*994C>G) c.2075C>G (p.Pro692Arg) c.2198C>G (p.Pro733Arg) c.1931C>G (p.Pro644Arg) c.1925C>G (p.Pro642Arg) c.1808C>G (p.Pro603Arg) c.2186C>G (p.Pro729Arg) c.1919C>G (p.Pro640Arg) c.1127C>G (p.Pro376Arg) n.2372C>G | |
8 | g.38414239G>T | CA370728844 | FGFR1 | c.2099C>A (p.Pro700Gln) c.2087C>A (p.Pro696Gln) n.2992C>A n.1339C>A n.789C>A c.2279C>A (p.Pro760Gln) n.2787C>A c.1820C>A (p.Pro607Gln) c.*1745C>A (n.*1745C>A) c.*2066C>A (n.*2066C>A) n.3593C>A c.1826C>A (p.Pro609Gln) c.2069C>A (p.Pro690Gln) c.*1149C>A (n.*1149C>A) c.1832C>A (p.Pro611Gln) c.2093C>A (p.Pro698Gln) c.2192C>A (p.Pro731Gln) n.4378C>A c.299C>A (p.Pro100Gln) c.*994C>A (n.*994C>A) c.2075C>A (p.Pro692Gln) c.2198C>A (p.Pro733Gln) c.1931C>A (p.Pro644Gln) c.1925C>A (p.Pro642Gln) c.1808C>A (p.Pro603Gln) c.2186C>A (p.Pro729Gln) c.1919C>A (p.Pro640Gln) c.1127C>A (p.Pro376Gln) n.2372C>A | dbSNP |
8 | g.38414240G>A | CA370728850 | FGFR1 | c.2098C>T (p.Pro700Ser) c.2086C>T (p.Pro696Ser) n.2991C>T n.1338C>T n.788C>T c.2278C>T (p.Pro760Ser) n.2786C>T c.1819C>T (p.Pro607Ser) c.*1744C>T (n.*1744C>T) c.*2065C>T (n.*2065C>T) n.3592C>T c.1825C>T (p.Pro609Ser) c.2068C>T (p.Pro690Ser) c.*1148C>T (n.*1148C>T) c.1831C>T (p.Pro611Ser) c.2092C>T (p.Pro698Ser) c.2191C>T (p.Pro731Ser) n.4377C>T c.298C>T (p.Pro100Ser) c.*993C>T (n.*993C>T) c.2074C>T (p.Pro692Ser) c.2197C>T (p.Pro733Ser) c.1930C>T (p.Pro644Ser) c.1924C>T (p.Pro642Ser) c.1807C>T (p.Pro603Ser) c.2185C>T (p.Pro729Ser) c.1918C>T (p.Pro640Ser) c.1126C>T (p.Pro376Ser) n.2371C>T | dbSNP |
8 | g.38414240G>C | CA370728853 | FGFR1 | c.2098C>G (p.Pro700Ala) c.2086C>G (p.Pro696Ala) n.2991C>G n.1338C>G n.788C>G c.2278C>G (p.Pro760Ala) n.2786C>G c.1819C>G (p.Pro607Ala) c.*1744C>G (n.*1744C>G) c.*2065C>G (n.*2065C>G) n.3592C>G c.1825C>G (p.Pro609Ala) c.2068C>G (p.Pro690Ala) c.*1148C>G (n.*1148C>G) c.1831C>G (p.Pro611Ala) c.2092C>G (p.Pro698Ala) c.2191C>G (p.Pro731Ala) n.4377C>G c.298C>G (p.Pro100Ala) c.*993C>G (n.*993C>G) c.2074C>G (p.Pro692Ala) c.2197C>G (p.Pro733Ala) c.1930C>G (p.Pro644Ala) c.1924C>G (p.Pro642Ala) c.1807C>G (p.Pro603Ala) c.2185C>G (p.Pro729Ala) c.1918C>G (p.Pro640Ala) c.1126C>G (p.Pro376Ala) n.2371C>G | dbSNP |
8 | g.38414240G>T | CA370728856 | FGFR1 | c.2098C>A (p.Pro700Thr) c.2086C>A (p.Pro696Thr) n.2991C>A n.1338C>A n.788C>A c.2278C>A (p.Pro760Thr) n.2786C>A c.1819C>A (p.Pro607Thr) c.*1744C>A (n.*1744C>A) c.*2065C>A (n.*2065C>A) n.3592C>A c.1825C>A (p.Pro609Thr) c.2068C>A (p.Pro690Thr) c.*1148C>A (n.*1148C>A) c.1831C>A (p.Pro611Thr) c.2092C>A (p.Pro698Thr) c.2191C>A (p.Pro731Thr) n.4377C>A c.298C>A (p.Pro100Thr) c.*993C>A (n.*993C>A) c.2074C>A (p.Pro692Thr) c.2197C>A (p.Pro733Thr) c.1930C>A (p.Pro644Thr) c.1924C>A (p.Pro642Thr) c.1807C>A (p.Pro603Thr) c.2185C>A (p.Pro729Thr) c.1918C>A (p.Pro640Thr) c.1126C>A (p.Pro376Thr) n.2371C>A | dbSNP |
8 | g.38414241G>A | CA4718178 | FGFR1 | c.2097C>T (p.Ser699=) c.2085C>T (p.Ser695=) n.2990C>T n.1337C>T n.787C>T c.2277C>T (p.Ser759=) n.2785C>T c.1818C>T (p.Ser606=) c.*1743C>T (n.*1743C>T) c.*2064C>T (n.*2064C>T) n.3591C>T c.1824C>T (p.Ser608=) c.2067C>T (p.Ser689=) c.*1147C>T (n.*1147C>T) c.1830C>T (p.Ser610=) c.2091C>T (p.Ser697=) c.2190C>T (p.Ser730=) n.4376C>T c.297C>T (p.Ser99=) c.*992C>T (n.*992C>T) c.2073C>T (p.Ser691=) c.2196C>T (p.Ser732=) c.1929C>T (p.Ser643=) c.1923C>T (p.Ser641=) c.1806C>T (p.Ser602=) c.2184C>T (p.Ser728=) c.1917C>T (p.Ser639=) c.1125C>T (p.Ser375=) n.2370C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38414241G>C | CA460499428 | FGFR1 | c.2097C>G (p.Ser699=) c.2085C>G (p.Ser695=) n.2990C>G n.1337C>G n.787C>G c.2277C>G (p.Ser759=) n.2785C>G c.1818C>G (p.Ser606=) c.*1743C>G (n.*1743C>G) c.*2064C>G (n.*2064C>G) n.3591C>G c.1824C>G (p.Ser608=) c.2067C>G (p.Ser689=) c.*1147C>G (n.*1147C>G) c.1830C>G (p.Ser610=) c.2091C>G (p.Ser697=) c.2190C>G (p.Ser730=) n.4376C>G c.297C>G (p.Ser99=) c.*992C>G (n.*992C>G) c.2073C>G (p.Ser691=) c.2196C>G (p.Ser732=) c.1929C>G (p.Ser643=) c.1923C>G (p.Ser641=) c.1806C>G (p.Ser602=) c.2184C>G (p.Ser728=) c.1917C>G (p.Ser639=) c.1125C>G (p.Ser375=) n.2370C>G | |
8 | g.38414241G= | CA1777533861 | FGFR1 | c.2097C= (p.Ser699=) c.2085C= (p.Ser695=) n.2990C= n.1337C= n.787C= c.2277C= (p.Ser759=) n.2785C= c.1818C= (p.Ser606=) c.*1743C= (n.*1743C=) c.*2064C= (n.*2064C=) n.3591C= c.1824C= (p.Ser608=) c.2067C= (p.Ser689=) c.*1147C= (n.*1147C=) c.1830C= (p.Ser610=) c.2091C= (p.Ser697=) c.2190C= (p.Ser730=) n.4376C= c.297C= (p.Ser99=) c.*992C= (n.*992C=) c.2073C= (p.Ser691=) c.2196C= (p.Ser732=) c.1929C= (p.Ser643=) c.1923C= (p.Ser641=) c.1806C= (p.Ser602=) c.2184C= (p.Ser728=) c.1917C= (p.Ser639=) c.1125C= (p.Ser375=) n.2370C= | |
8 | g.38414241G>T | CA460499430 | FGFR1 | c.2097C>A (p.Ser699=) c.2085C>A (p.Ser695=) n.2990C>A n.1337C>A n.787C>A c.2277C>A (p.Ser759=) n.2785C>A c.1818C>A (p.Ser606=) c.*1743C>A (n.*1743C>A) c.*2064C>A (n.*2064C>A) n.3591C>A c.1824C>A (p.Ser608=) c.2067C>A (p.Ser689=) c.*1147C>A (n.*1147C>A) c.1830C>A (p.Ser610=) c.2091C>A (p.Ser697=) c.2190C>A (p.Ser730=) n.4376C>A c.297C>A (p.Ser99=) c.*992C>A (n.*992C>A) c.2073C>A (p.Ser691=) c.2196C>A (p.Ser732=) c.1929C>A (p.Ser643=) c.1923C>A (p.Ser641=) c.1806C>A (p.Ser602=) c.2184C>A (p.Ser728=) c.1917C>A (p.Ser639=) c.1125C>A (p.Ser375=) n.2370C>A | gnomAD v4 |
8 | g.38414242G>A | CA370728863 | FGFR1 | c.2096C>T (p.Ser699Phe) c.2084C>T (p.Ser695Phe) n.2989C>T n.1336C>T n.786C>T c.2276C>T (p.Ser759Phe) n.2784C>T c.1817C>T (p.Ser606Phe) c.*1742C>T (n.*1742C>T) c.*2063C>T (n.*2063C>T) n.3590C>T c.1823C>T (p.Ser608Phe) c.2066C>T (p.Ser689Phe) c.*1146C>T (n.*1146C>T) c.1829C>T (p.Ser610Phe) c.2090C>T (p.Ser697Phe) c.2189C>T (p.Ser730Phe) n.4375C>T c.296C>T (p.Ser99Phe) c.*991C>T (n.*991C>T) c.2072C>T (p.Ser691Phe) c.2195C>T (p.Ser732Phe) c.1928C>T (p.Ser643Phe) c.1922C>T (p.Ser641Phe) c.1805C>T (p.Ser602Phe) c.2183C>T (p.Ser728Phe) c.1916C>T (p.Ser639Phe) c.1124C>T (p.Ser375Phe) n.2369C>T | dbSNP |
8 | g.38414242G>C | CA370728865 | FGFR1 | c.2096C>G (p.Ser699Cys) c.2084C>G (p.Ser695Cys) n.2989C>G n.1336C>G n.786C>G c.2276C>G (p.Ser759Cys) n.2784C>G c.1817C>G (p.Ser606Cys) c.*1742C>G (n.*1742C>G) c.*2063C>G (n.*2063C>G) n.3590C>G c.1823C>G (p.Ser608Cys) c.2066C>G (p.Ser689Cys) c.*1146C>G (n.*1146C>G) c.1829C>G (p.Ser610Cys) c.2090C>G (p.Ser697Cys) c.2189C>G (p.Ser730Cys) n.4375C>G c.296C>G (p.Ser99Cys) c.*991C>G (n.*991C>G) c.2072C>G (p.Ser691Cys) c.2195C>G (p.Ser732Cys) c.1928C>G (p.Ser643Cys) c.1922C>G (p.Ser641Cys) c.1805C>G (p.Ser602Cys) c.2183C>G (p.Ser728Cys) c.1916C>G (p.Ser639Cys) c.1124C>G (p.Ser375Cys) n.2369C>G | dbSNP |
8 | g.38414242G>T | CA370728866 | FGFR1 | c.2096C>A (p.Ser699Tyr) c.2084C>A (p.Ser695Tyr) n.2989C>A n.1336C>A n.786C>A c.2276C>A (p.Ser759Tyr) n.2784C>A c.1817C>A (p.Ser606Tyr) c.*1742C>A (n.*1742C>A) c.*2063C>A (n.*2063C>A) n.3590C>A c.1823C>A (p.Ser608Tyr) c.2066C>A (p.Ser689Tyr) c.*1146C>A (n.*1146C>A) c.1829C>A (p.Ser610Tyr) c.2090C>A (p.Ser697Tyr) c.2189C>A (p.Ser730Tyr) n.4375C>A c.296C>A (p.Ser99Tyr) c.*991C>A (n.*991C>A) c.2072C>A (p.Ser691Tyr) c.2195C>A (p.Ser732Tyr) c.1928C>A (p.Ser643Tyr) c.1922C>A (p.Ser641Tyr) c.1805C>A (p.Ser602Tyr) c.2183C>A (p.Ser728Tyr) c.1916C>A (p.Ser639Tyr) c.1124C>A (p.Ser375Tyr) n.2369C>A | |
8 | g.38414243A>C | CA370728871 | FGFR1 | c.2095T>G (p.Ser699Ala) c.2083T>G (p.Ser695Ala) n.2988T>G n.1335T>G n.785T>G c.2275T>G (p.Ser759Ala) n.2783T>G c.1816T>G (p.Ser606Ala) c.*1741T>G (n.*1741T>G) c.*2062T>G (n.*2062T>G) n.3589T>G c.1822T>G (p.Ser608Ala) c.2065T>G (p.Ser689Ala) c.*1145T>G (n.*1145T>G) c.1828T>G (p.Ser610Ala) c.2089T>G (p.Ser697Ala) c.2188T>G (p.Ser730Ala) n.4374T>G c.295T>G (p.Ser99Ala) c.*990T>G (n.*990T>G) c.2071T>G (p.Ser691Ala) c.2194T>G (p.Ser732Ala) c.1927T>G (p.Ser643Ala) c.1921T>G (p.Ser641Ala) c.1804T>G (p.Ser602Ala) c.2182T>G (p.Ser728Ala) c.1915T>G (p.Ser639Ala) c.1123T>G (p.Ser375Ala) n.2368T>G | |
8 | g.38414243A>G | CA370728874 | FGFR1 | c.2095T>C (p.Ser699Pro) c.2083T>C (p.Ser695Pro) n.2988T>C n.1335T>C n.785T>C c.2275T>C (p.Ser759Pro) n.2783T>C c.1816T>C (p.Ser606Pro) c.*1741T>C (n.*1741T>C) c.*2062T>C (n.*2062T>C) n.3589T>C c.1822T>C (p.Ser608Pro) c.2065T>C (p.Ser689Pro) c.*1145T>C (n.*1145T>C) c.1828T>C (p.Ser610Pro) c.2089T>C (p.Ser697Pro) c.2188T>C (p.Ser730Pro) n.4374T>C c.295T>C (p.Ser99Pro) c.*990T>C (n.*990T>C) c.2071T>C (p.Ser691Pro) c.2194T>C (p.Ser732Pro) c.1927T>C (p.Ser643Pro) c.1921T>C (p.Ser641Pro) c.1804T>C (p.Ser602Pro) c.2182T>C (p.Ser728Pro) c.1915T>C (p.Ser639Pro) c.1123T>C (p.Ser375Pro) n.2368T>C | dbSNP |
8 | g.38414243A>T | CA370728873 | FGFR1 | c.2095T>A (p.Ser699Thr) c.2083T>A (p.Ser695Thr) n.2988T>A n.1335T>A n.785T>A c.2275T>A (p.Ser759Thr) n.2783T>A c.1816T>A (p.Ser606Thr) c.*1741T>A (n.*1741T>A) c.*2062T>A (n.*2062T>A) n.3589T>A c.1822T>A (p.Ser608Thr) c.2065T>A (p.Ser689Thr) c.*1145T>A (n.*1145T>A) c.1828T>A (p.Ser610Thr) c.2089T>A (p.Ser697Thr) c.2188T>A (p.Ser730Thr) n.4374T>A c.295T>A (p.Ser99Thr) c.*990T>A (n.*990T>A) c.2071T>A (p.Ser691Thr) c.2194T>A (p.Ser732Thr) c.1927T>A (p.Ser643Thr) c.1921T>A (p.Ser641Thr) c.1804T>A (p.Ser602Thr) c.2182T>A (p.Ser728Thr) c.1915T>A (p.Ser639Thr) c.1123T>A (p.Ser375Thr) n.2368T>A | dbSNP |
8 | g.38414244G>A | CA460499435 | FGFR1 | c.2094C>T (p.Gly698=) c.2082C>T (p.Gly694=) n.2987C>T n.1334C>T n.784C>T c.2274C>T (p.Gly758=) n.2782C>T c.1815C>T (p.Gly605=) c.*1740C>T (n.*1740C>T) c.*2061C>T (n.*2061C>T) n.3588C>T c.1821C>T (p.Gly607=) c.2064C>T (p.Gly688=) c.*1144C>T (n.*1144C>T) c.1827C>T (p.Gly609=) c.2088C>T (p.Gly696=) c.2187C>T (p.Gly729=) n.4373C>T c.294C>T (p.Gly98=) c.*989C>T (n.*989C>T) c.2070C>T (p.Gly690=) c.2193C>T (p.Gly731=) c.1926C>T (p.Gly642=) c.1920C>T (p.Gly640=) c.1803C>T (p.Gly601=) c.2181C>T (p.Gly727=) c.1914C>T (p.Gly638=) c.1122C>T (p.Gly374=) n.2367C>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.38414244G>C | CA4718179 | FGFR1 | c.2094C>G (p.Gly698=) c.2082C>G (p.Gly694=) n.2987C>G n.1334C>G n.784C>G c.2274C>G (p.Gly758=) n.2782C>G c.1815C>G (p.Gly605=) c.*1740C>G (n.*1740C>G) c.*2061C>G (n.*2061C>G) n.3588C>G c.1821C>G (p.Gly607=) c.2064C>G (p.Gly688=) c.*1144C>G (n.*1144C>G) c.1827C>G (p.Gly609=) c.2088C>G (p.Gly696=) c.2187C>G (p.Gly729=) n.4373C>G c.294C>G (p.Gly98=) c.*989C>G (n.*989C>G) c.2070C>G (p.Gly690=) c.2193C>G (p.Gly731=) c.1926C>G (p.Gly642=) c.1920C>G (p.Gly640=) c.1803C>G (p.Gly601=) c.2181C>G (p.Gly727=) c.1914C>G (p.Gly638=) c.1122C>G (p.Gly374=) n.2367C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38414244G= | CA1777533862 | FGFR1 | c.2094C= (p.Gly698=) c.2082C= (p.Gly694=) n.2987C= n.1334C= n.784C= c.2274C= (p.Gly758=) n.2782C= c.1815C= (p.Gly605=) c.*1740C= (n.*1740C=) c.*2061C= (n.*2061C=) n.3588C= c.1821C= (p.Gly607=) c.2064C= (p.Gly688=) c.*1144C= (n.*1144C=) c.1827C= (p.Gly609=) c.2088C= (p.Gly696=) c.2187C= (p.Gly729=) n.4373C= c.294C= (p.Gly98=) c.*989C= (n.*989C=) c.2070C= (p.Gly690=) c.2193C= (p.Gly731=) c.1926C= (p.Gly642=) c.1920C= (p.Gly640=) c.1803C= (p.Gly601=) c.2181C= (p.Gly727=) c.1914C= (p.Gly638=) c.1122C= (p.Gly374=) n.2367C= | |
8 | g.38414244G>T | CA460499434 | FGFR1 | c.2094C>A (p.Gly698=) c.2082C>A (p.Gly694=) n.2987C>A n.1334C>A n.784C>A c.2274C>A (p.Gly758=) n.2782C>A c.1815C>A (p.Gly605=) c.*1740C>A (n.*1740C>A) c.*2061C>A (n.*2061C>A) n.3588C>A c.1821C>A (p.Gly607=) c.2064C>A (p.Gly688=) c.*1144C>A (n.*1144C>A) c.1827C>A (p.Gly609=) c.2088C>A (p.Gly696=) c.2187C>A (p.Gly729=) n.4373C>A c.294C>A (p.Gly98=) c.*989C>A (n.*989C>A) c.2070C>A (p.Gly690=) c.2193C>A (p.Gly731=) c.1926C>A (p.Gly642=) c.1920C>A (p.Gly640=) c.1803C>A (p.Gly601=) c.2181C>A (p.Gly727=) c.1914C>A (p.Gly638=) c.1122C>A (p.Gly374=) n.2367C>A | dbSNP |
8 | g.38414245C>A | CA370728880 | FGFR1 | c.2093G>T (p.Gly698Val) c.2081G>T (p.Gly694Val) n.2986G>T n.1333G>T n.783G>T c.2273G>T (p.Gly758Val) n.2781G>T c.1814G>T (p.Gly605Val) c.*1739G>T (n.*1739G>T) c.*2060G>T (n.*2060G>T) n.3587G>T c.1820G>T (p.Gly607Val) c.2063G>T (p.Gly688Val) c.*1143G>T (n.*1143G>T) c.1826G>T (p.Gly609Val) c.2087G>T (p.Gly696Val) c.2186G>T (p.Gly729Val) n.4372G>T c.293G>T (p.Gly98Val) c.*988G>T (n.*988G>T) c.2069G>T (p.Gly690Val) c.2192G>T (p.Gly731Val) c.1925G>T (p.Gly642Val) c.1919G>T (p.Gly640Val) c.1802G>T (p.Gly601Val) c.2180G>T (p.Gly727Val) c.1913G>T (p.Gly638Val) c.1121G>T (p.Gly374Val) n.2366G>T | dbSNP |
8 | g.38414245C>G | CA370728881 | FGFR1 | c.2093G>C (p.Gly698Ala) c.2081G>C (p.Gly694Ala) n.2986G>C n.1333G>C n.783G>C c.2273G>C (p.Gly758Ala) n.2781G>C c.1814G>C (p.Gly605Ala) c.*1739G>C (n.*1739G>C) c.*2060G>C (n.*2060G>C) n.3587G>C c.1820G>C (p.Gly607Ala) c.2063G>C (p.Gly688Ala) c.*1143G>C (n.*1143G>C) c.1826G>C (p.Gly609Ala) c.2087G>C (p.Gly696Ala) c.2186G>C (p.Gly729Ala) n.4372G>C c.293G>C (p.Gly98Ala) c.*988G>C (n.*988G>C) c.2069G>C (p.Gly690Ala) c.2192G>C (p.Gly731Ala) c.1925G>C (p.Gly642Ala) c.1919G>C (p.Gly640Ala) c.1802G>C (p.Gly601Ala) c.2180G>C (p.Gly727Ala) c.1913G>C (p.Gly638Ala) c.1121G>C (p.Gly374Ala) n.2366G>C | dbSNP |
8 | g.38414245C>T | CA370728882 | FGFR1 | c.2093G>A (p.Gly698Asp) c.2081G>A (p.Gly694Asp) n.2986G>A n.1333G>A n.783G>A c.2273G>A (p.Gly758Asp) n.2781G>A c.1814G>A (p.Gly605Asp) c.*1739G>A (n.*1739G>A) c.*2060G>A (n.*2060G>A) n.3587G>A c.1820G>A (p.Gly607Asp) c.2063G>A (p.Gly688Asp) c.*1143G>A (n.*1143G>A) c.1826G>A (p.Gly609Asp) c.2087G>A (p.Gly696Asp) c.2186G>A (p.Gly729Asp) n.4372G>A c.293G>A (p.Gly98Asp) c.*988G>A (n.*988G>A) c.2069G>A (p.Gly690Asp) c.2192G>A (p.Gly731Asp) c.1925G>A (p.Gly642Asp) c.1919G>A (p.Gly640Asp) c.1802G>A (p.Gly601Asp) c.2180G>A (p.Gly727Asp) c.1913G>A (p.Gly638Asp) c.1121G>A (p.Gly374Asp) n.2366G>A | dbSNP |
8 | g.38414246C>A | CA370728886 | FGFR1 | c.2092G>T (p.Gly698Cys) c.2080G>T (p.Gly694Cys) n.2985G>T n.1332G>T n.782G>T c.2272G>T (p.Gly758Cys) n.2780G>T c.1813G>T (p.Gly605Cys) c.*1738G>T (n.*1738G>T) c.*2059G>T (n.*2059G>T) n.3586G>T c.1819G>T (p.Gly607Cys) c.2062G>T (p.Gly688Cys) c.*1142G>T (n.*1142G>T) c.1825G>T (p.Gly609Cys) c.2086G>T (p.Gly696Cys) c.2185G>T (p.Gly729Cys) n.4371G>T c.292G>T (p.Gly98Cys) c.*987G>T (n.*987G>T) c.2068G>T (p.Gly690Cys) c.2191G>T (p.Gly731Cys) c.1924G>T (p.Gly642Cys) c.1918G>T (p.Gly640Cys) c.1801G>T (p.Gly601Cys) c.2179G>T (p.Gly727Cys) c.1912G>T (p.Gly638Cys) c.1120G>T (p.Gly374Cys) n.2365G>T | dbSNP |
8 | g.38414246C>G | CA370728895 | FGFR1 | c.2092G>C (p.Gly698Arg) c.2080G>C (p.Gly694Arg) n.2985G>C n.1332G>C n.782G>C c.2272G>C (p.Gly758Arg) n.2780G>C c.1813G>C (p.Gly605Arg) c.*1738G>C (n.*1738G>C) c.*2059G>C (n.*2059G>C) n.3586G>C c.1819G>C (p.Gly607Arg) c.2062G>C (p.Gly688Arg) c.*1142G>C (n.*1142G>C) c.1825G>C (p.Gly609Arg) c.2086G>C (p.Gly696Arg) c.2185G>C (p.Gly729Arg) n.4371G>C c.292G>C (p.Gly98Arg) c.*987G>C (n.*987G>C) c.2068G>C (p.Gly690Arg) c.2191G>C (p.Gly731Arg) c.1924G>C (p.Gly642Arg) c.1918G>C (p.Gly640Arg) c.1801G>C (p.Gly601Arg) c.2179G>C (p.Gly727Arg) c.1912G>C (p.Gly638Arg) c.1120G>C (p.Gly374Arg) n.2365G>C | dbSNP |
8 | g.38414246C>T | CA370728890 | FGFR1 | c.2092G>A (p.Gly698Ser) c.2080G>A (p.Gly694Ser) n.2985G>A n.1332G>A n.782G>A c.2272G>A (p.Gly758Ser) n.2780G>A c.1813G>A (p.Gly605Ser) c.*1738G>A (n.*1738G>A) c.*2059G>A (n.*2059G>A) n.3586G>A c.1819G>A (p.Gly607Ser) c.2062G>A (p.Gly688Ser) c.*1142G>A (n.*1142G>A) c.1825G>A (p.Gly609Ser) c.2086G>A (p.Gly696Ser) c.2185G>A (p.Gly729Ser) n.4371G>A c.292G>A (p.Gly98Ser) c.*987G>A (n.*987G>A) c.2068G>A (p.Gly690Ser) c.2191G>A (p.Gly731Ser) c.1924G>A (p.Gly642Ser) c.1918G>A (p.Gly640Ser) c.1801G>A (p.Gly601Ser) c.2179G>A (p.Gly727Ser) c.1912G>A (p.Gly638Ser) c.1120G>A (p.Gly374Ser) n.2365G>A | dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
8 | g.38414247G>A | CA4718180 | FGFR1 | c.2091C>T (p.Gly697=) c.2079C>T (p.Gly693=) n.2984C>T n.1331C>T n.781C>T c.2271C>T (p.Gly757=) n.2779C>T c.1812C>T (p.Gly604=) c.*1737C>T (n.*1737C>T) c.*2058C>T (n.*2058C>T) n.3585C>T c.1818C>T (p.Gly606=) c.2061C>T (p.Gly687=) c.*1141C>T (n.*1141C>T) c.1824C>T (p.Gly608=) c.2085C>T (p.Gly695=) c.2184C>T (p.Gly728=) n.4370C>T c.291C>T (p.Gly97=) c.*986C>T (n.*986C>T) c.2067C>T (p.Gly689=) c.2190C>T (p.Gly730=) c.1923C>T (p.Gly641=) c.1917C>T (p.Gly639=) c.1800C>T (p.Gly600=) c.2178C>T (p.Gly726=) c.1911C>T (p.Gly637=) c.1119C>T (p.Gly373=) n.2364C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
8 | g.38414247G>C | CA460499437 | FGFR1 | c.2091C>G (p.Gly697=) c.2079C>G (p.Gly693=) n.2984C>G n.1331C>G n.781C>G c.2271C>G (p.Gly757=) n.2779C>G c.1812C>G (p.Gly604=) c.*1737C>G (n.*1737C>G) c.*2058C>G (n.*2058C>G) n.3585C>G c.1818C>G (p.Gly606=) c.2061C>G (p.Gly687=) c.*1141C>G (n.*1141C>G) c.1824C>G (p.Gly608=) c.2085C>G (p.Gly695=) c.2184C>G (p.Gly728=) n.4370C>G c.291C>G (p.Gly97=) c.*986C>G (n.*986C>G) c.2067C>G (p.Gly689=) c.2190C>G (p.Gly730=) c.1923C>G (p.Gly641=) c.1917C>G (p.Gly639=) c.1800C>G (p.Gly600=) c.2178C>G (p.Gly726=) c.1911C>G (p.Gly637=) c.1119C>G (p.Gly373=) n.2364C>G | |
8 | g.38414247G= | CA1777533863 | FGFR1 | c.2091C= (p.Gly697=) c.2079C= (p.Gly693=) n.2984C= n.1331C= n.781C= c.2271C= (p.Gly757=) n.2779C= c.1812C= (p.Gly604=) c.*1737C= (n.*1737C=) c.*2058C= (n.*2058C=) n.3585C= c.1818C= (p.Gly606=) c.2061C= (p.Gly687=) c.*1141C= (n.*1141C=) c.1824C= (p.Gly608=) c.2085C= (p.Gly695=) c.2184C= (p.Gly728=) n.4370C= c.291C= (p.Gly97=) c.*986C= (n.*986C=) c.2067C= (p.Gly689=) c.2190C= (p.Gly730=) c.1923C= (p.Gly641=) c.1917C= (p.Gly639=) c.1800C= (p.Gly600=) c.2178C= (p.Gly726=) c.1911C= (p.Gly637=) c.1119C= (p.Gly373=) n.2364C= | |
8 | g.38414247G>T | CA460499439 | FGFR1 | c.2091C>A (p.Gly697=) c.2079C>A (p.Gly693=) n.2984C>A n.1331C>A n.781C>A c.2271C>A (p.Gly757=) n.2779C>A c.1812C>A (p.Gly604=) c.*1737C>A (n.*1737C>A) c.*2058C>A (n.*2058C>A) n.3585C>A c.1818C>A (p.Gly606=) c.2061C>A (p.Gly687=) c.*1141C>A (n.*1141C>A) c.1824C>A (p.Gly608=) c.2085C>A (p.Gly695=) c.2184C>A (p.Gly728=) n.4370C>A c.291C>A (p.Gly97=) c.*986C>A (n.*986C>A) c.2067C>A (p.Gly689=) c.2190C>A (p.Gly730=) c.1923C>A (p.Gly641=) c.1917C>A (p.Gly639=) c.1800C>A (p.Gly600=) c.2178C>A (p.Gly726=) c.1911C>A (p.Gly637=) c.1119C>A (p.Gly373=) n.2364C>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
8 | g.38414248C>A | CA370728903 | FGFR1 | c.2090G>T (p.Gly697Val) c.2078G>T (p.Gly693Val) n.2983G>T n.1330G>T n.780G>T c.2270G>T (p.Gly757Val) n.2778G>T c.1811G>T (p.Gly604Val) c.*1736G>T (n.*1736G>T) c.*2057G>T (n.*2057G>T) n.3584G>T c.1817G>T (p.Gly606Val) c.2060G>T (p.Gly687Val) c.*1140G>T (n.*1140G>T) c.1823G>T (p.Gly608Val) c.2084G>T (p.Gly695Val) c.2183G>T (p.Gly728Val) n.4369G>T c.290G>T (p.Gly97Val) c.*985G>T (n.*985G>T) c.2066G>T (p.Gly689Val) c.2189G>T (p.Gly730Val) c.1922G>T (p.Gly641Val) c.1916G>T (p.Gly639Val) c.1799G>T (p.Gly600Val) c.2177G>T (p.Gly726Val) c.1910G>T (p.Gly637Val) c.1118G>T (p.Gly373Val) n.2363G>T | ClinVar |
8 | g.38414248C>G | CA370728906 | FGFR1 | c.2090G>C (p.Gly697Ala) c.2078G>C (p.Gly693Ala) n.2983G>C n.1330G>C n.780G>C c.2270G>C (p.Gly757Ala) n.2778G>C c.1811G>C (p.Gly604Ala) c.*1736G>C (n.*1736G>C) c.*2057G>C (n.*2057G>C) n.3584G>C c.1817G>C (p.Gly606Ala) c.2060G>C (p.Gly687Ala) c.*1140G>C (n.*1140G>C) c.1823G>C (p.Gly608Ala) c.2084G>C (p.Gly695Ala) c.2183G>C (p.Gly728Ala) n.4369G>C c.290G>C (p.Gly97Ala) c.*985G>C (n.*985G>C) c.2066G>C (p.Gly689Ala) c.2189G>C (p.Gly730Ala) c.1922G>C (p.Gly641Ala) c.1916G>C (p.Gly639Ala) c.1799G>C (p.Gly600Ala) c.2177G>C (p.Gly726Ala) c.1910G>C (p.Gly637Ala) c.1118G>C (p.Gly373Ala) n.2363G>C | dbSNP |
8 | g.38414248C>T | CA370728907 | FGFR1 | c.2090G>A (p.Gly697Asp) c.2078G>A (p.Gly693Asp) n.2983G>A n.1330G>A n.780G>A c.2270G>A (p.Gly757Asp) n.2778G>A c.1811G>A (p.Gly604Asp) c.*1736G>A (n.*1736G>A) c.*2057G>A (n.*2057G>A) n.3584G>A c.1817G>A (p.Gly606Asp) c.2060G>A (p.Gly687Asp) c.*1140G>A (n.*1140G>A) c.1823G>A (p.Gly608Asp) c.2084G>A (p.Gly695Asp) c.2183G>A (p.Gly728Asp) n.4369G>A c.290G>A (p.Gly97Asp) c.*985G>A (n.*985G>A) c.2066G>A (p.Gly689Asp) c.2189G>A (p.Gly730Asp) c.1922G>A (p.Gly641Asp) c.1916G>A (p.Gly639Asp) c.1799G>A (p.Gly600Asp) c.2177G>A (p.Gly726Asp) c.1910G>A (p.Gly637Asp) c.1118G>A (p.Gly373Asp) n.2363G>A | dbSNP |
8 | g.38414249C>A | CA370728911 | FGFR1 | c.2089G>T (p.Gly697Cys) c.2077G>T (p.Gly693Cys) n.2982G>T n.1329G>T n.779G>T c.2269G>T (p.Gly757Cys) n.2777G>T c.1810G>T (p.Gly604Cys) c.*1735G>T (n.*1735G>T) c.*2056G>T (n.*2056G>T) n.3583G>T c.1816G>T (p.Gly606Cys) c.2059G>T (p.Gly687Cys) c.*1139G>T (n.*1139G>T) c.1822G>T (p.Gly608Cys) c.2083G>T (p.Gly695Cys) c.2182G>T (p.Gly728Cys) n.4368G>T c.289G>T (p.Gly97Cys) c.*984G>T (n.*984G>T) c.2065G>T (p.Gly689Cys) c.2188G>T (p.Gly730Cys) c.1921G>T (p.Gly641Cys) c.1915G>T (p.Gly639Cys) c.1798G>T (p.Gly600Cys) c.2176G>T (p.Gly726Cys) c.1909G>T (p.Gly637Cys) c.1117G>T (p.Gly373Cys) n.2362G>T | |
8 | g.38414249C>G | CA370728912 | FGFR1 | c.2089G>C (p.Gly697Arg) c.2077G>C (p.Gly693Arg) n.2982G>C n.1329G>C n.779G>C c.2269G>C (p.Gly757Arg) n.2777G>C c.1810G>C (p.Gly604Arg) c.*1735G>C (n.*1735G>C) c.*2056G>C (n.*2056G>C) n.3583G>C c.1816G>C (p.Gly606Arg) c.2059G>C (p.Gly687Arg) c.*1139G>C (n.*1139G>C) c.1822G>C (p.Gly608Arg) c.2083G>C (p.Gly695Arg) c.2182G>C (p.Gly728Arg) n.4368G>C c.289G>C (p.Gly97Arg) c.*984G>C (n.*984G>C) c.2065G>C (p.Gly689Arg) c.2188G>C (p.Gly730Arg) c.1921G>C (p.Gly641Arg) c.1915G>C (p.Gly639Arg) c.1798G>C (p.Gly600Arg) c.2176G>C (p.Gly726Arg) c.1909G>C (p.Gly637Arg) c.1117G>C (p.Gly373Arg) n.2362G>C | ClinVar |
8 | g.38414249C>T | CA370728914 | FGFR1 | c.2089G>A (p.Gly697Ser) c.2077G>A (p.Gly693Ser) n.2982G>A n.1329G>A n.779G>A c.2269G>A (p.Gly757Ser) n.2777G>A c.1810G>A (p.Gly604Ser) c.*1735G>A (n.*1735G>A) c.*2056G>A (n.*2056G>A) n.3583G>A c.1816G>A (p.Gly606Ser) c.2059G>A (p.Gly687Ser) c.*1139G>A (n.*1139G>A) c.1822G>A (p.Gly608Ser) c.2083G>A (p.Gly695Ser) c.2182G>A (p.Gly728Ser) n.4368G>A c.289G>A (p.Gly97Ser) c.*984G>A (n.*984G>A) c.2065G>A (p.Gly689Ser) c.2188G>A (p.Gly730Ser) c.1921G>A (p.Gly641Ser) c.1915G>A (p.Gly639Ser) c.1798G>A (p.Gly600Ser) c.2176G>A (p.Gly726Ser) c.1909G>A (p.Gly637Ser) c.1117G>A (p.Gly373Ser) n.2362G>A | |
8 | g.38414250C>A | CA460499447 | FGFR1 | c.2088G>T (p.Leu696=) c.2076G>T (p.Leu692=) n.2981G>T n.1328G>T n.778G>T c.2268G>T (p.Leu756=) n.2776G>T c.1809G>T (p.Leu603=) c.*1734G>T (n.*1734G>T) c.*2055G>T (n.*2055G>T) n.3582G>T c.1815G>T (p.Leu605=) c.2058G>T (p.Leu686=) c.*1138G>T (n.*1138G>T) c.1821G>T (p.Leu607=) c.2082G>T (p.Leu694=) c.2181G>T (p.Leu727=) n.4367G>T c.288G>T (p.Leu96=) c.*983G>T (n.*983G>T) c.2064G>T (p.Leu688=) c.2187G>T (p.Leu729=) c.1920G>T (p.Leu640=) c.1914G>T (p.Leu638=) c.1797G>T (p.Leu599=) c.2175G>T (p.Leu725=) c.1908G>T (p.Leu636=) c.1116G>T (p.Leu372=) n.2361G>T | dbSNP |
8 | g.38414250C>G | CA460499450 | FGFR1 | c.2088G>C (p.Leu696=) c.2076G>C (p.Leu692=) n.2981G>C n.1328G>C n.778G>C c.2268G>C (p.Leu756=) n.2776G>C c.1809G>C (p.Leu603=) c.*1734G>C (n.*1734G>C) c.*2055G>C (n.*2055G>C) n.3582G>C c.1815G>C (p.Leu605=) c.2058G>C (p.Leu686=) c.*1138G>C (n.*1138G>C) c.1821G>C (p.Leu607=) c.2082G>C (p.Leu694=) c.2181G>C (p.Leu727=) n.4367G>C c.288G>C (p.Leu96=) c.*983G>C (n.*983G>C) c.2064G>C (p.Leu688=) c.2187G>C (p.Leu729=) c.1920G>C (p.Leu640=) c.1914G>C (p.Leu638=) c.1797G>C (p.Leu599=) c.2175G>C (p.Leu725=) c.1908G>C (p.Leu636=) c.1116G>C (p.Leu372=) n.2361G>C | dbSNP |
8 | g.38414250C>T | CA460499452 | FGFR1 | c.2088G>A (p.Leu696=) c.2076G>A (p.Leu692=) n.2981G>A n.1328G>A n.778G>A c.2268G>A (p.Leu756=) n.2776G>A c.1809G>A (p.Leu603=) c.*1734G>A (n.*1734G>A) c.*2055G>A (n.*2055G>A) n.3582G>A c.1815G>A (p.Leu605=) c.2058G>A (p.Leu686=) c.*1138G>A (n.*1138G>A) c.1821G>A (p.Leu607=) c.2082G>A (p.Leu694=) c.2181G>A (p.Leu727=) n.4367G>A c.288G>A (p.Leu96=) c.*983G>A (n.*983G>A) c.2064G>A (p.Leu688=) c.2187G>A (p.Leu729=) c.1920G>A (p.Leu640=) c.1914G>A (p.Leu638=) c.1797G>A (p.Leu599=) c.2175G>A (p.Leu725=) c.1908G>A (p.Leu636=) c.1116G>A (p.Leu372=) n.2361G>A | dbSNP |
8 | g.38414251A>C | CA370728919 | FGFR1 | c.2087T>G (p.Leu696Arg) c.2075T>G (p.Leu692Arg) n.2980T>G n.1327T>G n.777T>G c.2267T>G (p.Leu756Arg) n.2775T>G c.1808T>G (p.Leu603Arg) c.*1733T>G (n.*1733T>G) c.*2054T>G (n.*2054T>G) n.3581T>G c.1814T>G (p.Leu605Arg) c.2057T>G (p.Leu686Arg) c.*1137T>G (n.*1137T>G) c.1820T>G (p.Leu607Arg) c.2081T>G (p.Leu694Arg) c.2180T>G (p.Leu727Arg) n.4366T>G c.287T>G (p.Leu96Arg) c.*982T>G (n.*982T>G) c.2063T>G (p.Leu688Arg) c.2186T>G (p.Leu729Arg) c.1919T>G (p.Leu640Arg) c.1913T>G (p.Leu638Arg) c.1796T>G (p.Leu599Arg) c.2174T>G (p.Leu725Arg) c.1907T>G (p.Leu636Arg) c.1115T>G (p.Leu372Arg) n.2360T>G | |
8 | g.38414251A>G | CA370728922 | FGFR1 | c.2087T>C (p.Leu696Pro) c.2075T>C (p.Leu692Pro) n.2980T>C n.1327T>C n.777T>C c.2267T>C (p.Leu756Pro) n.2775T>C c.1808T>C (p.Leu603Pro) c.*1733T>C (n.*1733T>C) c.*2054T>C (n.*2054T>C) n.3581T>C c.1814T>C (p.Leu605Pro) c.2057T>C (p.Leu686Pro) c.*1137T>C (n.*1137T>C) c.1820T>C (p.Leu607Pro) c.2081T>C (p.Leu694Pro) c.2180T>C (p.Leu727Pro) n.4366T>C c.287T>C (p.Leu96Pro) c.*982T>C (n.*982T>C) c.2063T>C (p.Leu688Pro) c.2186T>C (p.Leu729Pro) c.1919T>C (p.Leu640Pro) c.1913T>C (p.Leu638Pro) c.1796T>C (p.Leu599Pro) c.2174T>C (p.Leu725Pro) c.1907T>C (p.Leu636Pro) c.1115T>C (p.Leu372Pro) n.2360T>C | |
8 | g.38414251A>T | CA370728924 | FGFR1 | c.2087T>A (p.Leu696Gln) c.2075T>A (p.Leu692Gln) n.2980T>A n.1327T>A n.777T>A c.2267T>A (p.Leu756Gln) n.2775T>A c.1808T>A (p.Leu603Gln) c.*1733T>A (n.*1733T>A) c.*2054T>A (n.*2054T>A) n.3581T>A c.1814T>A (p.Leu605Gln) c.2057T>A (p.Leu686Gln) c.*1137T>A (n.*1137T>A) c.1820T>A (p.Leu607Gln) c.2081T>A (p.Leu694Gln) c.2180T>A (p.Leu727Gln) n.4366T>A c.287T>A (p.Leu96Gln) c.*982T>A (n.*982T>A) c.2063T>A (p.Leu688Gln) c.2186T>A (p.Leu729Gln) c.1919T>A (p.Leu640Gln) c.1913T>A (p.Leu638Gln) c.1796T>A (p.Leu599Gln) c.2174T>A (p.Leu725Gln) c.1907T>A (p.Leu636Gln) c.1115T>A (p.Leu372Gln) n.2360T>A | dbSNP |
8 | g.38414252G>A | CA460499455 | FGFR1 | c.2086C>T (p.Leu696=) c.2074C>T (p.Leu692=) n.2979C>T n.1326C>T n.776C>T c.2266C>T (p.Leu756=) n.2774C>T c.1807C>T (p.Leu603=) c.*1732C>T (n.*1732C>T) c.*2053C>T (n.*2053C>T) n.3580C>T c.1813C>T (p.Leu605=) c.2056C>T (p.Leu686=) c.*1136C>T (n.*1136C>T) c.1819C>T (p.Leu607=) c.2080C>T (p.Leu694=) c.2179C>T (p.Leu727=) n.4365C>T c.286C>T (p.Leu96=) c.*981C>T (n.*981C>T) c.2062C>T (p.Leu688=) c.2185C>T (p.Leu729=) c.1918C>T (p.Leu640=) c.1912C>T (p.Leu638=) c.1795C>T (p.Leu599=) c.2173C>T (p.Leu725=) c.1906C>T (p.Leu636=) c.1114C>T (p.Leu372=) n.2359C>T | ClinVar dbSNP gnomAD v4 |
8 | g.38414252G>C | CA370728926 | FGFR1 | c.2086C>G (p.Leu696Val) c.2074C>G (p.Leu692Val) n.2979C>G n.1326C>G n.776C>G c.2266C>G (p.Leu756Val) n.2774C>G c.1807C>G (p.Leu603Val) c.*1732C>G (n.*1732C>G) c.*2053C>G (n.*2053C>G) n.3580C>G c.1813C>G (p.Leu605Val) c.2056C>G (p.Leu686Val) c.*1136C>G (n.*1136C>G) c.1819C>G (p.Leu607Val) c.2080C>G (p.Leu694Val) c.2179C>G (p.Leu727Val) n.4365C>G c.286C>G (p.Leu96Val) c.*981C>G (n.*981C>G) c.2062C>G (p.Leu688Val) c.2185C>G (p.Leu729Val) c.1918C>G (p.Leu640Val) c.1912C>G (p.Leu638Val) c.1795C>G (p.Leu599Val) c.2173C>G (p.Leu725Val) c.1906C>G (p.Leu636Val) c.1114C>G (p.Leu372Val) n.2359C>G | dbSNP |
8 | g.38414252G>T | CA370728929 | FGFR1 | c.2086C>A (p.Leu696Met) c.2074C>A (p.Leu692Met) n.2979C>A n.1326C>A n.776C>A c.2266C>A (p.Leu756Met) n.2774C>A c.1807C>A (p.Leu603Met) c.*1732C>A (n.*1732C>A) c.*2053C>A (n.*2053C>A) n.3580C>A c.1813C>A (p.Leu605Met) c.2056C>A (p.Leu686Met) c.*1136C>A (n.*1136C>A) c.1819C>A (p.Leu607Met) c.2080C>A (p.Leu694Met) c.2179C>A (p.Leu727Met) n.4365C>A c.286C>A (p.Leu96Met) c.*981C>A (n.*981C>A) c.2062C>A (p.Leu688Met) c.2185C>A (p.Leu729Met) c.1918C>A (p.Leu640Met) c.1912C>A (p.Leu638Met) c.1795C>A (p.Leu599Met) c.2173C>A (p.Leu725Met) c.1906C>A (p.Leu636Met) c.1114C>A (p.Leu372Met) n.2359C>A | dbSNP |
8 | g.38414253A>C | CA460499462 | FGFR1 | c.2085T>G (p.Thr695=) c.2073T>G (p.Thr691=) n.2978T>G n.1325T>G n.775T>G c.2265T>G (p.Thr755=) n.2773T>G c.1806T>G (p.Thr602=) c.*1731T>G (n.*1731T>G) c.*2052T>G (n.*2052T>G) n.3579T>G c.1812T>G (p.Thr604=) c.2055T>G (p.Thr685=) c.*1135T>G (n.*1135T>G) c.1818T>G (p.Thr606=) c.2079T>G (p.Thr693=) c.2178T>G (p.Thr726=) n.4364T>G c.285T>G (p.Thr95=) c.*980T>G (n.*980T>G) c.2061T>G (p.Thr687=) c.2184T>G (p.Thr728=) c.1917T>G (p.Thr639=) c.1911T>G (p.Thr637=) c.1794T>G (p.Thr598=) c.2172T>G (p.Thr724=) c.1905T>G (p.Thr635=) c.1113T>G (p.Thr371=) n.2358T>G | |
8 | g.38414253A>G | CA460499466 | FGFR1 | c.2085T>C (p.Thr695=) c.2073T>C (p.Thr691=) n.2978T>C n.1325T>C n.775T>C c.2265T>C (p.Thr755=) n.2773T>C c.1806T>C (p.Thr602=) c.*1731T>C (n.*1731T>C) c.*2052T>C (n.*2052T>C) n.3579T>C c.1812T>C (p.Thr604=) c.2055T>C (p.Thr685=) c.*1135T>C (n.*1135T>C) c.1818T>C (p.Thr606=) c.2079T>C (p.Thr693=) c.2178T>C (p.Thr726=) n.4364T>C c.285T>C (p.Thr95=) c.*980T>C (n.*980T>C) c.2061T>C (p.Thr687=) c.2184T>C (p.Thr728=) c.1917T>C (p.Thr639=) c.1911T>C (p.Thr637=) c.1794T>C (p.Thr598=) c.2172T>C (p.Thr724=) c.1905T>C (p.Thr635=) c.1113T>C (p.Thr371=) n.2358T>C | |
8 | g.38414253A>T | CA460499458 | FGFR1 | c.2085T>A (p.Thr695=) c.2073T>A (p.Thr691=) n.2978T>A n.1325T>A n.775T>A c.2265T>A (p.Thr755=) n.2773T>A c.1806T>A (p.Thr602=) c.*1731T>A (n.*1731T>A) c.*2052T>A (n.*2052T>A) n.3579T>A c.1812T>A (p.Thr604=) c.2055T>A (p.Thr685=) c.*1135T>A (n.*1135T>A) c.1818T>A (p.Thr606=) c.2079T>A (p.Thr693=) c.2178T>A (p.Thr726=) n.4364T>A c.285T>A (p.Thr95=) c.*980T>A (n.*980T>A) c.2061T>A (p.Thr687=) c.2184T>A (p.Thr728=) c.1917T>A (p.Thr639=) c.1911T>A (p.Thr637=) c.1794T>A (p.Thr598=) c.2172T>A (p.Thr724=) c.1905T>A (p.Thr635=) c.1113T>A (p.Thr371=) n.2358T>A | dbSNP |
8 | g.38414254G>A | CA269809 | FGFR1 | c.2084C>T (p.Thr695Ile) c.2072C>T (p.Thr691Ile) n.2977C>T n.1324C>T n.774C>T c.2264C>T (p.Thr755Ile) n.2772C>T c.1805C>T (p.Thr602Ile) c.*1730C>T (n.*1730C>T) c.*2051C>T (n.*2051C>T) n.3578C>T c.1811C>T (p.Thr604Ile) c.2054C>T (p.Thr685Ile) c.*1134C>T (n.*1134C>T) c.1817C>T (p.Thr606Ile) c.2078C>T (p.Thr693Ile) c.2177C>T (p.Thr726Ile) n.4363C>T c.284C>T (p.Thr95Ile) c.*979C>T (n.*979C>T) c.2060C>T (p.Thr687Ile) c.2183C>T (p.Thr728Ile) c.1916C>T (p.Thr639Ile) c.1910C>T (p.Thr637Ile) c.1793C>T (p.Thr598Ile) c.2171C>T (p.Thr724Ile) c.1904C>T (p.Thr635Ile) c.1112C>T (p.Thr371Ile) n.2357C>T | ClinVar dbSNP |
8 | g.38414254G>C | CA370728939 | FGFR1 | c.2084C>G (p.Thr695Ser) c.2072C>G (p.Thr691Ser) n.2977C>G n.1324C>G n.774C>G c.2264C>G (p.Thr755Ser) n.2772C>G c.1805C>G (p.Thr602Ser) c.*1730C>G (n.*1730C>G) c.*2051C>G (n.*2051C>G) n.3578C>G c.1811C>G (p.Thr604Ser) c.2054C>G (p.Thr685Ser) c.*1134C>G (n.*1134C>G) c.1817C>G (p.Thr606Ser) c.2078C>G (p.Thr693Ser) c.2177C>G (p.Thr726Ser) n.4363C>G c.284C>G (p.Thr95Ser) c.*979C>G (n.*979C>G) c.2060C>G (p.Thr687Ser) c.2183C>G (p.Thr728Ser) c.1916C>G (p.Thr639Ser) c.1910C>G (p.Thr637Ser) c.1793C>G (p.Thr598Ser) c.2171C>G (p.Thr724Ser) c.1904C>G (p.Thr635Ser) c.1112C>G (p.Thr371Ser) n.2357C>G | dbSNP |
8 | g.38414254G= | CA1777533962 | FGFR1 | c.2084C= (p.Thr695=) c.2072C= (p.Thr691=) n.2977C= n.1324C= n.774C= c.2264C= (p.Thr755=) n.2772C= c.1805C= (p.Thr602=) c.*1730C= (n.*1730C=) c.*2051C= (n.*2051C=) n.3578C= c.1811C= (p.Thr604=) c.2054C= (p.Thr685=) c.*1134C= (n.*1134C=) c.1817C= (p.Thr606=) c.2078C= (p.Thr693=) c.2177C= (p.Thr726=) n.4363C= c.284C= (p.Thr95=) c.*979C= (n.*979C=) c.2060C= (p.Thr687=) c.2183C= (p.Thr728=) c.1916C= (p.Thr639=) c.1910C= (p.Thr637=) c.1793C= (p.Thr598=) c.2171C= (p.Thr724=) c.1904C= (p.Thr635=) c.1112C= (p.Thr371=) n.2357C= | |
8 | g.38414254G>T | CA370728934 | FGFR1 | c.2084C>A (p.Thr695Asn) c.2072C>A (p.Thr691Asn) n.2977C>A n.1324C>A n.774C>A c.2264C>A (p.Thr755Asn) n.2772C>A c.1805C>A (p.Thr602Asn) c.*1730C>A (n.*1730C>A) c.*2051C>A (n.*2051C>A) n.3578C>A c.1811C>A (p.Thr604Asn) c.2054C>A (p.Thr685Asn) c.*1134C>A (n.*1134C>A) c.1817C>A (p.Thr606Asn) c.2078C>A (p.Thr693Asn) c.2177C>A (p.Thr726Asn) n.4363C>A c.284C>A (p.Thr95Asn) c.*979C>A (n.*979C>A) c.2060C>A (p.Thr687Asn) c.2183C>A (p.Thr728Asn) c.1916C>A (p.Thr639Asn) c.1910C>A (p.Thr637Asn) c.1793C>A (p.Thr598Asn) c.2171C>A (p.Thr724Asn) c.1904C>A (p.Thr635Asn) c.1112C>A (p.Thr371Asn) n.2357C>A | |
8 | g.38414257_38414317del | CA2686966080 | FGFR1 | c.2049-25_2084del c.2037-25_2072del n.2942-25_2977del n.1264_1324del n.739-25_774del c.2229-25_2264del n.2737-25_2772del c.1770-25_1805del c.*1695-25_*1730del c.*2016-25_*2051del n.3543-25_3578del c.1776-25_1811del c.2019-25_2054del c.*1099-25_*1134del c.1782-25_1817del c.2043-25_2078del c.2142-25_2177del n.4328-25_4363del c.249-25_284del c.*944-25_*979del c.2025-25_2060del c.2148-25_2183del c.1881-25_1916del c.1875-25_1910del c.1758-25_1793del c.2136-25_2171del c.1869-25_1904del c.1077-25_1112del n.2322-25_2357del | gnomAD v4 |
8 | g.38414255T>A | CA370728947 | FGFR1 | c.2083A>T (p.Thr695Ser) c.2071A>T (p.Thr691Ser) n.2976A>T n.1323A>T n.773A>T c.2263A>T (p.Thr755Ser) n.2771A>T c.1804A>T (p.Thr602Ser) c.*1729A>T (n.*1729A>T) c.*2050A>T (n.*2050A>T) n.3577A>T c.1810A>T (p.Thr604Ser) c.2053A>T (p.Thr685Ser) c.*1133A>T (n.*1133A>T) c.1816A>T (p.Thr606Ser) c.2077A>T (p.Thr693Ser) c.2176A>T (p.Thr726Ser) n.4362A>T c.283A>T (p.Thr95Ser) c.*978A>T (n.*978A>T) c.2059A>T (p.Thr687Ser) c.2182A>T (p.Thr728Ser) c.1915A>T (p.Thr639Ser) c.1909A>T (p.Thr637Ser) c.1792A>T (p.Thr598Ser) c.2170A>T (p.Thr724Ser) c.1903A>T (p.Thr635Ser) c.1111A>T (p.Thr371Ser) n.2356A>T | dbSNP |
8 | g.38414255T>C | CA370728942 | FGFR1 | c.2083A>G (p.Thr695Ala) c.2071A>G (p.Thr691Ala) n.2976A>G n.1323A>G n.773A>G c.2263A>G (p.Thr755Ala) n.2771A>G c.1804A>G (p.Thr602Ala) c.*1729A>G (n.*1729A>G) c.*2050A>G (n.*2050A>G) n.3577A>G c.1810A>G (p.Thr604Ala) c.2053A>G (p.Thr685Ala) c.*1133A>G (n.*1133A>G) c.1816A>G (p.Thr606Ala) c.2077A>G (p.Thr693Ala) c.2176A>G (p.Thr726Ala) n.4362A>G c.283A>G (p.Thr95Ala) c.*978A>G (n.*978A>G) c.2059A>G (p.Thr687Ala) c.2182A>G (p.Thr728Ala) c.1915A>G (p.Thr639Ala) c.1909A>G (p.Thr637Ala) c.1792A>G (p.Thr598Ala) c.2170A>G (p.Thr724Ala) c.1903A>G (p.Thr635Ala) c.1111A>G (p.Thr371Ala) n.2356A>G | |
8 | g.38414255T>G | CA370728949 | FGFR1 | c.2083A>C (p.Thr695Pro) c.2071A>C (p.Thr691Pro) n.2976A>C n.1323A>C n.773A>C c.2263A>C (p.Thr755Pro) n.2771A>C c.1804A>C (p.Thr602Pro) c.*1729A>C (n.*1729A>C) c.*2050A>C (n.*2050A>C) n.3577A>C c.1810A>C (p.Thr604Pro) c.2053A>C (p.Thr685Pro) c.*1133A>C (n.*1133A>C) c.1816A>C (p.Thr606Pro) c.2077A>C (p.Thr693Pro) c.2176A>C (p.Thr726Pro) n.4362A>C c.283A>C (p.Thr95Pro) c.*978A>C (n.*978A>C) c.2059A>C (p.Thr687Pro) c.2182A>C (p.Thr728Pro) c.1915A>C (p.Thr639Pro) c.1909A>C (p.Thr637Pro) c.1792A>C (p.Thr598Pro) c.2170A>C (p.Thr724Pro) c.1903A>C (p.Thr635Pro) c.1111A>C (p.Thr371Pro) n.2356A>C | dbSNP |
8 | g.38414256G>A | CA460499471 | FGFR1 | c.2082C>T (p.Phe694=) c.2070C>T (p.Phe690=) n.2975C>T n.1322C>T n.772C>T c.2262C>T (p.Phe754=) n.2770C>T c.1803C>T (p.Phe601=) c.*1728C>T (n.*1728C>T) c.*2049C>T (n.*2049C>T) n.3576C>T c.1809C>T (p.Phe603=) c.2052C>T (p.Phe684=) c.*1132C>T (n.*1132C>T) c.1815C>T (p.Phe605=) c.2076C>T (p.Phe692=) c.2175C>T (p.Phe725=) n.4361C>T c.282C>T (p.Phe94=) c.*977C>T (n.*977C>T) c.2058C>T (p.Phe686=) c.2181C>T (p.Phe727=) c.1914C>T (p.Phe638=) c.1908C>T (p.Phe636=) c.1791C>T (p.Phe597=) c.2169C>T (p.Phe723=) c.1902C>T (p.Phe634=) c.1110C>T (p.Phe370=) n.2355C>T | dbSNP |
8 | g.38414256G>C | CA370728952 | FGFR1 | c.2082C>G (p.Phe694Leu) c.2070C>G (p.Phe690Leu) n.2975C>G n.1322C>G n.772C>G c.2262C>G (p.Phe754Leu) n.2770C>G c.1803C>G (p.Phe601Leu) c.*1728C>G (n.*1728C>G) c.*2049C>G (n.*2049C>G) n.3576C>G c.1809C>G (p.Phe603Leu) c.2052C>G (p.Phe684Leu) c.*1132C>G (n.*1132C>G) c.1815C>G (p.Phe605Leu) c.2076C>G (p.Phe692Leu) c.2175C>G (p.Phe725Leu) n.4361C>G c.282C>G (p.Phe94Leu) c.*977C>G (n.*977C>G) c.2058C>G (p.Phe686Leu) c.2181C>G (p.Phe727Leu) c.1914C>G (p.Phe638Leu) c.1908C>G (p.Phe636Leu) c.1791C>G (p.Phe597Leu) c.2169C>G (p.Phe723Leu) c.1902C>G (p.Phe634Leu) c.1110C>G (p.Phe370Leu) n.2355C>G | dbSNP |
8 | g.38414256G>T | CA370728955 | FGFR1 | c.2082C>A (p.Phe694Leu) c.2070C>A (p.Phe690Leu) n.2975C>A n.1322C>A n.772C>A c.2262C>A (p.Phe754Leu) n.2770C>A c.1803C>A (p.Phe601Leu) c.*1728C>A (n.*1728C>A) c.*2049C>A (n.*2049C>A) n.3576C>A c.1809C>A (p.Phe603Leu) c.2052C>A (p.Phe684Leu) c.*1132C>A (n.*1132C>A) c.1815C>A (p.Phe605Leu) c.2076C>A (p.Phe692Leu) c.2175C>A (p.Phe725Leu) n.4361C>A c.282C>A (p.Phe94Leu) c.*977C>A (n.*977C>A) c.2058C>A (p.Phe686Leu) c.2181C>A (p.Phe727Leu) c.1914C>A (p.Phe638Leu) c.1908C>A (p.Phe636Leu) c.1791C>A (p.Phe597Leu) c.2169C>A (p.Phe723Leu) c.1902C>A (p.Phe634Leu) c.1110C>A (p.Phe370Leu) n.2355C>A | |
8 | g.38414257A>C | CA370728959 | FGFR1 | c.2081T>G (p.Phe694Cys) c.2069T>G (p.Phe690Cys) n.2974T>G n.1321T>G n.771T>G c.2261T>G (p.Phe754Cys) n.2769T>G c.1802T>G (p.Phe601Cys) c.*1727T>G (n.*1727T>G) c.*2048T>G (n.*2048T>G) n.3575T>G c.1808T>G (p.Phe603Cys) c.2051T>G (p.Phe684Cys) c.*1131T>G (n.*1131T>G) c.1814T>G (p.Phe605Cys) c.2075T>G (p.Phe692Cys) c.2174T>G (p.Phe725Cys) n.4360T>G c.281T>G (p.Phe94Cys) c.*976T>G (n.*976T>G) c.2057T>G (p.Phe686Cys) c.2180T>G (p.Phe727Cys) c.1913T>G (p.Phe638Cys) c.1907T>G (p.Phe636Cys) c.1790T>G (p.Phe597Cys) c.2168T>G (p.Phe723Cys) c.1901T>G (p.Phe634Cys) c.1109T>G (p.Phe370Cys) n.2354T>G | |
8 | g.38414257A>G | CA370728963 | FGFR1 | c.2081T>C (p.Phe694Ser) c.2069T>C (p.Phe690Ser) n.2974T>C n.1321T>C n.771T>C c.2261T>C (p.Phe754Ser) n.2769T>C c.1802T>C (p.Phe601Ser) c.*1727T>C (n.*1727T>C) c.*2048T>C (n.*2048T>C) n.3575T>C c.1808T>C (p.Phe603Ser) c.2051T>C (p.Phe684Ser) c.*1131T>C (n.*1131T>C) c.1814T>C (p.Phe605Ser) c.2075T>C (p.Phe692Ser) c.2174T>C (p.Phe725Ser) n.4360T>C c.281T>C (p.Phe94Ser) c.*976T>C (n.*976T>C) c.2057T>C (p.Phe686Ser) c.2180T>C (p.Phe727Ser) c.1913T>C (p.Phe638Ser) c.1907T>C (p.Phe636Ser) c.1790T>C (p.Phe597Ser) c.2168T>C (p.Phe723Ser) c.1901T>C (p.Phe634Ser) c.1109T>C (p.Phe370Ser) n.2354T>C | dbSNP |
8 | g.38414257A>T | CA370728966 | FGFR1 | c.2081T>A (p.Phe694Tyr) c.2069T>A (p.Phe690Tyr) n.2974T>A n.1321T>A n.771T>A c.2261T>A (p.Phe754Tyr) n.2769T>A c.1802T>A (p.Phe601Tyr) c.*1727T>A (n.*1727T>A) c.*2048T>A (n.*2048T>A) n.3575T>A c.1808T>A (p.Phe603Tyr) c.2051T>A (p.Phe684Tyr) c.*1131T>A (n.*1131T>A) c.1814T>A (p.Phe605Tyr) c.2075T>A (p.Phe692Tyr) c.2174T>A (p.Phe725Tyr) n.4360T>A c.281T>A (p.Phe94Tyr) c.*976T>A (n.*976T>A) c.2057T>A (p.Phe686Tyr) c.2180T>A (p.Phe727Tyr) c.1913T>A (p.Phe638Tyr) c.1907T>A (p.Phe636Tyr) c.1790T>A (p.Phe597Tyr) c.2168T>A (p.Phe723Tyr) c.1901T>A (p.Phe634Tyr) c.1109T>A (p.Phe370Tyr) n.2354T>A | |
8 | g.38414258A>C | CA370728970 | FGFR1 | c.2080T>G (p.Phe694Val) c.2068T>G (p.Phe690Val) n.2973T>G n.1320T>G n.770T>G c.2260T>G (p.Phe754Val) n.2768T>G c.1801T>G (p.Phe601Val) c.*1726T>G (n.*1726T>G) c.*2047T>G (n.*2047T>G) n.3574T>G c.1807T>G (p.Phe603Val) c.2050T>G (p.Phe684Val) c.*1130T>G (n.*1130T>G) c.1813T>G (p.Phe605Val) c.2074T>G (p.Phe692Val) c.2173T>G (p.Phe725Val) n.4359T>G c.280T>G (p.Phe94Val) c.*975T>G (n.*975T>G) c.2056T>G (p.Phe686Val) c.2179T>G (p.Phe727Val) c.1912T>G (p.Phe638Val) c.1906T>G (p.Phe636Val) c.1789T>G (p.Phe597Val) c.2167T>G (p.Phe723Val) c.1900T>G (p.Phe634Val) c.1108T>G (p.Phe370Val) n.2353T>G | dbSNP |
8 | g.38414258A>G | CA370728972 | FGFR1 | c.2080T>C (p.Phe694Leu) c.2068T>C (p.Phe690Leu) n.2973T>C n.1320T>C n.770T>C c.2260T>C (p.Phe754Leu) n.2768T>C c.1801T>C (p.Phe601Leu) c.*1726T>C (n.*1726T>C) c.*2047T>C (n.*2047T>C) n.3574T>C c.1807T>C (p.Phe603Leu) c.2050T>C (p.Phe684Leu) c.*1130T>C (n.*1130T>C) c.1813T>C (p.Phe605Leu) c.2074T>C (p.Phe692Leu) c.2173T>C (p.Phe725Leu) n.4359T>C c.280T>C (p.Phe94Leu) c.*975T>C (n.*975T>C) c.2056T>C (p.Phe686Leu) c.2179T>C (p.Phe727Leu) c.1912T>C (p.Phe638Leu) c.1906T>C (p.Phe636Leu) c.1789T>C (p.Phe597Leu) c.2167T>C (p.Phe723Leu) c.1900T>C (p.Phe634Leu) c.1108T>C (p.Phe370Leu) n.2353T>C | dbSNP |
8 | g.38414258A>T | CA370728975 | FGFR1 | c.2080T>A (p.Phe694Ile) c.2068T>A (p.Phe690Ile) n.2973T>A n.1320T>A n.770T>A c.2260T>A (p.Phe754Ile) n.2768T>A c.1801T>A (p.Phe601Ile) c.*1726T>A (n.*1726T>A) c.*2047T>A (n.*2047T>A) n.3574T>A c.1807T>A (p.Phe603Ile) c.2050T>A (p.Phe684Ile) c.*1130T>A (n.*1130T>A) c.1813T>A (p.Phe605Ile) c.2074T>A (p.Phe692Ile) c.2173T>A (p.Phe725Ile) n.4359T>A c.280T>A (p.Phe94Ile) c.*975T>A (n.*975T>A) c.2056T>A (p.Phe686Ile) c.2179T>A (p.Phe727Ile) c.1912T>A (p.Phe638Ile) c.1906T>A (p.Phe636Ile) c.1789T>A (p.Phe597Ile) c.2167T>A (p.Phe723Ile) c.1900T>A (p.Phe634Ile) c.1108T>A (p.Phe370Ile) n.2353T>A | dbSNP |