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.38415905C>A | CA370731590 | FGFR1 | c.1819G>T (p.Val607Leu) c.1807G>T (p.Val603Leu) n.2712G>T n.641G>T n.509G>T c.1999G>T (p.Val667Leu) n.2507G>T c.1540G>T (p.Val514Leu) c.*1465G>T (n.*1465G>T) c.*1786G>T (n.*1786G>T) n.3313G>T c.1546G>T (p.Val516Leu) c.1789G>T (p.Val597Leu) c.*869G>T (n.*869G>T) c.1552G>T (p.Val518Leu) c.1813G>T (p.Val605Leu) c.1912G>T (p.Val638Leu) n.4098G>T n.1341G>T c.19G>T (p.Val7Leu) n.365G>T c.*714G>T (n.*714G>T) c.1795G>T (p.Val599Leu) c.1918G>T (p.Val640Leu) c.1651G>T (p.Val551Leu) c.1645G>T (p.Val549Leu) c.1528G>T (p.Val510Leu) c.1906G>T (p.Val636Leu) c.1639G>T (p.Val547Leu) c.847G>T (p.Val283Leu) n.2067G>T | dbSNP |
8 | g.38415905C= | CA1777535497 | FGFR1 | c.1819G= (p.Val607=) c.1807G= (p.Val603=) n.2712G= n.641G= n.509G= c.1999G= (p.Val667=) n.2507G= c.1540G= (p.Val514=) c.*1465G= (n.*1465G=) c.*1786G= (n.*1786G=) n.3313G= c.1546G= (p.Val516=) c.1789G= (p.Val597=) c.*869G= (n.*869G=) c.1552G= (p.Val518=) c.1813G= (p.Val605=) c.1912G= (p.Val638=) n.4098G= n.1341G= c.19G= (p.Val7=) n.365G= c.*714G= (n.*714G=) c.1795G= (p.Val599=) c.1918G= (p.Val640=) c.1651G= (p.Val551=) c.1645G= (p.Val549=) c.1528G= (p.Val510=) c.1906G= (p.Val636=) c.1639G= (p.Val547=) c.847G= (p.Val283=) n.2067G= | |
8 | g.38415905C>G | CA370731589 | FGFR1 | c.1819G>C (p.Val607Leu) c.1807G>C (p.Val603Leu) n.2712G>C n.641G>C n.509G>C c.1999G>C (p.Val667Leu) n.2507G>C c.1540G>C (p.Val514Leu) c.*1465G>C (n.*1465G>C) c.*1786G>C (n.*1786G>C) n.3313G>C c.1546G>C (p.Val516Leu) c.1789G>C (p.Val597Leu) c.*869G>C (n.*869G>C) c.1552G>C (p.Val518Leu) c.1813G>C (p.Val605Leu) c.1912G>C (p.Val638Leu) n.4098G>C n.1341G>C c.19G>C (p.Val7Leu) n.365G>C c.*714G>C (n.*714G>C) c.1795G>C (p.Val599Leu) c.1918G>C (p.Val640Leu) c.1651G>C (p.Val551Leu) c.1645G>C (p.Val549Leu) c.1528G>C (p.Val510Leu) c.1906G>C (p.Val636Leu) c.1639G>C (p.Val547Leu) c.847G>C (p.Val283Leu) n.2067G>C | dbSNP |
8 | g.38415905C>T | CA130216 | FGFR1 | c.1819G>A (p.Val607Met) c.1807G>A (p.Val603Met) n.2712G>A n.641G>A n.509G>A c.1999G>A (p.Val667Met) n.2507G>A c.1540G>A (p.Val514Met) c.*1465G>A (n.*1465G>A) c.*1786G>A (n.*1786G>A) n.3313G>A c.1546G>A (p.Val516Met) c.1789G>A (p.Val597Met) c.*869G>A (n.*869G>A) c.1552G>A (p.Val518Met) c.1813G>A (p.Val605Met) c.1912G>A (p.Val638Met) n.4098G>A n.1341G>A c.19G>A (p.Val7Met) n.365G>A c.*714G>A (n.*714G>A) c.1795G>A (p.Val599Met) c.1918G>A (p.Val640Met) c.1651G>A (p.Val551Met) c.1645G>A (p.Val549Met) c.1528G>A (p.Val510Met) c.1906G>A (p.Val636Met) c.1639G>A (p.Val547Met) c.847G>A (p.Val283Met) n.2067G>A | ClinVar dbSNP |
8 | g.38415905_38415906insGTGAAGAT | CA4718278 | FGFR1 | c.1818_1819insATCTTCAC (p.Val607IlefsTer28) c.1806_1807insATCTTCAC (p.Val603IlefsTer28) n.2711_2712insATCTTCAC n.640_641insATCTTCAC n.508_509insATCTTCAC c.1998_1999insATCTTCAC (p.Val667IlefsTer28) n.2506_2507insATCTTCAC c.1539_1540insATCTTCAC (p.Val514IlefsTer28) c.*1464_*1465insATCTTCAC (n.*1464_*1465insATCTTCAC) c.*1785_*1786insATCTTCAC (n.*1785_*1786insATCTTCAC) n.3312_3313insATCTTCAC c.1545_1546insATCTTCAC (p.Val516IlefsTer28) c.1788_1789insATCTTCAC (p.Val597IlefsTer28) c.*868_*869insATCTTCAC (n.*868_*869insATCTTCAC) c.1551_1552insATCTTCAC (p.Val518IlefsTer28) c.1812_1813insATCTTCAC (p.Val605IlefsTer28) c.1911_1912insATCTTCAC (p.Val638IlefsTer28) n.4097_4098insATCTTCAC n.1340_1341insATCTTCAC c.18_19insATCTTCAC (p.Val7IlefsTer28) n.364_365insATCTTCAC c.*713_*714insATCTTCAC (n.*713_*714insATCTTCAC) c.1794_1795insATCTTCAC (p.Val599IlefsTer28) c.1917_1918insATCTTCAC (p.Val640IlefsTer28) c.1650_1651insATCTTCAC (p.Val551IlefsTer28) c.1644_1645insATCTTCAC (p.Val549IlefsTer28) c.1527_1528insATCTTCAC (p.Val510IlefsTer28) c.1905_1906insATCTTCAC (p.Val636IlefsTer28) c.1638_1639insATCTTCAC (p.Val547IlefsTer28) c.846_847insATCTTCAC (p.Val283IlefsTer28) n.2066_2067insATCTTCAC | dbSNP ExAC gnomAD v2 |
8 | g.38415906C>A | CA370731591 | FGFR1 | c.1818G>T (p.Gln606His) c.1806G>T (p.Gln602His) n.2711G>T n.640G>T n.508G>T c.1998G>T (p.Gln666His) n.2506G>T c.1539G>T (p.Gln513His) c.*1464G>T (n.*1464G>T) c.*1785G>T (n.*1785G>T) n.3312G>T c.1545G>T (p.Gln515His) c.1788G>T (p.Gln596His) c.*868G>T (n.*868G>T) c.1551G>T (p.Gln517His) c.1812G>T (p.Gln604His) c.1911G>T (p.Gln637His) n.4097G>T n.1340G>T c.18G>T (p.Gln6His) n.364G>T c.*713G>T (n.*713G>T) c.1794G>T (p.Gln598His) c.1917G>T (p.Gln639His) c.1650G>T (p.Gln550His) c.1644G>T (p.Gln548His) c.1527G>T (p.Gln509His) c.1905G>T (p.Gln635His) c.1638G>T (p.Gln546His) c.846G>T (p.Gln282His) n.2066G>T | |
8 | g.38415906C= | CA1777535498 | FGFR1 | c.1818G= (p.Gln606=) c.1806G= (p.Gln602=) n.2711G= n.640G= n.508G= c.1998G= (p.Gln666=) n.2506G= c.1539G= (p.Gln513=) c.*1464G= (n.*1464G=) c.*1785G= (n.*1785G=) n.3312G= c.1545G= (p.Gln515=) c.1788G= (p.Gln596=) c.*868G= (n.*868G=) c.1551G= (p.Gln517=) c.1812G= (p.Gln604=) c.1911G= (p.Gln637=) n.4097G= n.1340G= c.18G= (p.Gln6=) n.364G= c.*713G= (n.*713G=) c.1794G= (p.Gln598=) c.1917G= (p.Gln639=) c.1650G= (p.Gln550=) c.1644G= (p.Gln548=) c.1527G= (p.Gln509=) c.1905G= (p.Gln635=) c.1638G= (p.Gln546=) c.846G= (p.Gln282=) n.2066G= | |
8 | g.38415906C>G | CA370731592 | FGFR1 | c.1818G>C (p.Gln606His) c.1806G>C (p.Gln602His) n.2711G>C n.640G>C n.508G>C c.1998G>C (p.Gln666His) n.2506G>C c.1539G>C (p.Gln513His) c.*1464G>C (n.*1464G>C) c.*1785G>C (n.*1785G>C) n.3312G>C c.1545G>C (p.Gln515His) c.1788G>C (p.Gln596His) c.*868G>C (n.*868G>C) c.1551G>C (p.Gln517His) c.1812G>C (p.Gln604His) c.1911G>C (p.Gln637His) n.4097G>C n.1340G>C c.18G>C (p.Gln6His) n.364G>C c.*713G>C (n.*713G>C) c.1794G>C (p.Gln598His) c.1917G>C (p.Gln639His) c.1650G>C (p.Gln550His) c.1644G>C (p.Gln548His) c.1527G>C (p.Gln509His) c.1905G>C (p.Gln635His) c.1638G>C (p.Gln546His) c.846G>C (p.Gln282His) n.2066G>C | dbSNP |
8 | g.38415906C>T | CA460396407 | FGFR1 | c.1818G>A (p.Gln606=) c.1806G>A (p.Gln602=) n.2711G>A n.640G>A n.508G>A c.1998G>A (p.Gln666=) n.2506G>A c.1539G>A (p.Gln513=) c.*1464G>A (n.*1464G>A) c.*1785G>A (n.*1785G>A) n.3312G>A c.1545G>A (p.Gln515=) c.1788G>A (p.Gln596=) c.*868G>A (n.*868G>A) c.1551G>A (p.Gln517=) c.1812G>A (p.Gln604=) c.1911G>A (p.Gln637=) n.4097G>A n.1340G>A c.18G>A (p.Gln6=) n.364G>A c.*713G>A (n.*713G>A) c.1794G>A (p.Gln598=) c.1917G>A (p.Gln639=) c.1650G>A (p.Gln550=) c.1644G>A (p.Gln548=) c.1527G>A (p.Gln509=) c.1905G>A (p.Gln635=) c.1638G>A (p.Gln546=) c.846G>A (p.Gln282=) n.2066G>A | |
8 | g.38415907T>A | CA370731593 | FGFR1 | c.1817A>T (p.Gln606Leu) c.1805A>T (p.Gln602Leu) n.2710A>T n.639A>T n.507A>T c.1997A>T (p.Gln666Leu) n.2505A>T c.1538A>T (p.Gln513Leu) c.*1463A>T (n.*1463A>T) c.*1784A>T (n.*1784A>T) n.3311A>T c.1544A>T (p.Gln515Leu) c.1787A>T (p.Gln596Leu) c.*867A>T (n.*867A>T) c.1550A>T (p.Gln517Leu) c.1811A>T (p.Gln604Leu) c.1910A>T (p.Gln637Leu) n.4096A>T n.1339A>T c.17A>T (p.Gln6Leu) n.363A>T c.*712A>T (n.*712A>T) c.1793A>T (p.Gln598Leu) c.1916A>T (p.Gln639Leu) c.1649A>T (p.Gln550Leu) c.1643A>T (p.Gln548Leu) c.1526A>T (p.Gln509Leu) c.1904A>T (p.Gln635Leu) c.1637A>T (p.Gln546Leu) c.845A>T (p.Gln282Leu) n.2065A>T | dbSNP |
8 | g.38415907T>C | CA370731594 | FGFR1 | c.1817A>G (p.Gln606Arg) c.1805A>G (p.Gln602Arg) n.2710A>G n.639A>G n.507A>G c.1997A>G (p.Gln666Arg) n.2505A>G c.1538A>G (p.Gln513Arg) c.*1463A>G (n.*1463A>G) c.*1784A>G (n.*1784A>G) n.3311A>G c.1544A>G (p.Gln515Arg) c.1787A>G (p.Gln596Arg) c.*867A>G (n.*867A>G) c.1550A>G (p.Gln517Arg) c.1811A>G (p.Gln604Arg) c.1910A>G (p.Gln637Arg) n.4096A>G n.1339A>G c.17A>G (p.Gln6Arg) n.363A>G c.*712A>G (n.*712A>G) c.1793A>G (p.Gln598Arg) c.1916A>G (p.Gln639Arg) c.1649A>G (p.Gln550Arg) c.1643A>G (p.Gln548Arg) c.1526A>G (p.Gln509Arg) c.1904A>G (p.Gln635Arg) c.1637A>G (p.Gln546Arg) c.845A>G (p.Gln282Arg) n.2065A>G | dbSNP |
8 | g.38415907T>G | CA370731595 | FGFR1 | c.1817A>C (p.Gln606Pro) c.1805A>C (p.Gln602Pro) n.2710A>C n.639A>C n.507A>C c.1997A>C (p.Gln666Pro) n.2505A>C c.1538A>C (p.Gln513Pro) c.*1463A>C (n.*1463A>C) c.*1784A>C (n.*1784A>C) n.3311A>C c.1544A>C (p.Gln515Pro) c.1787A>C (p.Gln596Pro) c.*867A>C (n.*867A>C) c.1550A>C (p.Gln517Pro) c.1811A>C (p.Gln604Pro) c.1910A>C (p.Gln637Pro) n.4096A>C n.1339A>C c.17A>C (p.Gln6Pro) n.363A>C c.*712A>C (n.*712A>C) c.1793A>C (p.Gln598Pro) c.1916A>C (p.Gln639Pro) c.1649A>C (p.Gln550Pro) c.1643A>C (p.Gln548Pro) c.1526A>C (p.Gln509Pro) c.1904A>C (p.Gln635Pro) c.1637A>C (p.Gln546Pro) c.845A>C (p.Gln282Pro) n.2065A>C | |
8 | g.38415907T= | CA1777535499 | FGFR1 | c.1817A= (p.Gln606=) c.1805A= (p.Gln602=) n.2710A= n.639A= n.507A= c.1997A= (p.Gln666=) n.2505A= c.1538A= (p.Gln513=) c.*1463A= (n.*1463A=) c.*1784A= (n.*1784A=) n.3311A= c.1544A= (p.Gln515=) c.1787A= (p.Gln596=) c.*867A= (n.*867A=) c.1550A= (p.Gln517=) c.1811A= (p.Gln604=) c.1910A= (p.Gln637=) n.4096A= n.1339A= c.17A= (p.Gln6=) n.363A= c.*712A= (n.*712A=) c.1793A= (p.Gln598=) c.1916A= (p.Gln639=) c.1649A= (p.Gln550=) c.1643A= (p.Gln548=) c.1526A= (p.Gln509=) c.1904A= (p.Gln635=) c.1637A= (p.Gln546=) c.845A= (p.Gln282=) n.2065A= | |
8 | g.38415907_38415908insCCCACAGGAGCACCCCGAAAGACCACCTGCAAAT | CA4718279 | FGFR1 | c.1817_1818insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (p.Gln606HisfsTer?) c.1805_1806insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (p.Gln602HisfsTer?) n.2710_2711insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA n.639_640insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA n.507_508insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA c.1997_1998insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (p.Gln666HisfsTer?) n.2505_2506insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA c.1538_1539insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (p.Gln513HisfsTer?) c.*1463_*1464insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (n.*1463_*1464insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA) c.*1784_*1785insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (n.*1784_*1785insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA) n.3311_3312insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA c.1544_1545insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (p.Gln515HisfsTer?) c.1787_1788insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (p.Gln596HisfsTer?) c.*867_*868insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (n.*867_*868insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA) c.1550_1551insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (p.Gln517HisfsTer?) c.1811_1812insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (p.Gln604HisfsTer?) c.1910_1911insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (p.Gln637HisfsTer?) n.4096_4097insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA n.1339_1340insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA c.17_18insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (p.Gln6HisfsTer?) n.363_364insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA c.*712_*713insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (n.*712_*713insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA) c.1793_1794insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (p.Gln598HisfsTer?) c.1916_1917insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (p.Gln639HisfsTer?) c.1649_1650insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (p.Gln550HisfsTer?) c.1643_1644insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (p.Gln548HisfsTer?) c.1526_1527insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (p.Gln509HisfsTer?) c.1904_1905insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (p.Gln635HisfsTer?) c.1637_1638insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (p.Gln546HisfsTer?) c.845_846insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA (p.Gln282HisfsTer?) n.2065_2066insTTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGA | dbSNP ExAC |
8 | g.38415907_38415908insCCCACAGGAGCACCCCGAAAGACCACCTGCAAATG | CA581431232 | FGFR1 | c.1816_1817insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (p.Gln606ProfsTer38) c.1804_1805insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (p.Gln602ProfsTer38) n.2709_2710insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG n.638_639insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG n.506_507insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG c.1996_1997insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (p.Gln666ProfsTer38) n.2504_2505insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG c.1537_1538insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (p.Gln513ProfsTer38) c.*1462_*1463insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (n.*1462_*1463insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG) c.*1783_*1784insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (n.*1783_*1784insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG) n.3310_3311insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG c.1543_1544insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (p.Gln515ProfsTer38) c.1786_1787insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (p.Gln596ProfsTer38) c.*866_*867insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (n.*866_*867insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG) c.1549_1550insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (p.Gln517ProfsTer38) c.1810_1811insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (p.Gln604ProfsTer38) c.1909_1910insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (p.Gln637ProfsTer38) n.4095_4096insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG n.1338_1339insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG c.16_17insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (p.Gln6ProfsTer38) n.362_363insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG c.*711_*712insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (n.*711_*712insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG) c.1792_1793insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (p.Gln598ProfsTer38) c.1915_1916insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (p.Gln639ProfsTer38) c.1648_1649insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (p.Gln550ProfsTer38) c.1642_1643insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (p.Gln548ProfsTer38) c.1525_1526insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (p.Gln509ProfsTer38) c.1903_1904insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (p.Gln635ProfsTer38) c.1636_1637insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (p.Gln546ProfsTer38) c.844_845insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG (p.Gln282ProfsTer38) n.2064_2065insCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGG | dbSNP gnomAD v2 |
8 | g.38415908G>A | CA370731596 | FGFR1 | c.1816C>T (p.Gln606Ter) c.1804C>T (p.Gln602Ter) n.2709C>T n.638C>T n.506C>T c.1996C>T (p.Gln666Ter) n.2504C>T c.1537C>T (p.Gln513Ter) c.*1462C>T (n.*1462C>T) c.*1783C>T (n.*1783C>T) n.3310C>T c.1543C>T (p.Gln515Ter) c.1786C>T (p.Gln596Ter) c.*866C>T (n.*866C>T) c.1549C>T (p.Gln517Ter) c.1810C>T (p.Gln604Ter) c.1909C>T (p.Gln637Ter) n.4095C>T n.1338C>T c.16C>T (p.Gln6Ter) n.362C>T c.*711C>T (n.*711C>T) c.1792C>T (p.Gln598Ter) c.1915C>T (p.Gln639Ter) c.1648C>T (p.Gln550Ter) c.1642C>T (p.Gln548Ter) c.1525C>T (p.Gln509Ter) c.1903C>T (p.Gln635Ter) c.1636C>T (p.Gln546Ter) c.844C>T (p.Gln282Ter) n.2064C>T | dbSNP |
8 | g.38415908G>C | CA370731597 | FGFR1 | c.1816C>G (p.Gln606Glu) c.1804C>G (p.Gln602Glu) n.2709C>G n.638C>G n.506C>G c.1996C>G (p.Gln666Glu) n.2504C>G c.1537C>G (p.Gln513Glu) c.*1462C>G (n.*1462C>G) c.*1783C>G (n.*1783C>G) n.3310C>G c.1543C>G (p.Gln515Glu) c.1786C>G (p.Gln596Glu) c.*866C>G (n.*866C>G) c.1549C>G (p.Gln517Glu) c.1810C>G (p.Gln604Glu) c.1909C>G (p.Gln637Glu) n.4095C>G n.1338C>G c.16C>G (p.Gln6Glu) n.362C>G c.*711C>G (n.*711C>G) c.1792C>G (p.Gln598Glu) c.1915C>G (p.Gln639Glu) c.1648C>G (p.Gln550Glu) c.1642C>G (p.Gln548Glu) c.1525C>G (p.Gln509Glu) c.1903C>G (p.Gln635Glu) c.1636C>G (p.Gln546Glu) c.844C>G (p.Gln282Glu) n.2064C>G | dbSNP |
8 | g.38415908G>T | CA370731598 | FGFR1 | c.1816C>A (p.Gln606Lys) c.1804C>A (p.Gln602Lys) n.2709C>A n.638C>A n.506C>A c.1996C>A (p.Gln666Lys) n.2504C>A c.1537C>A (p.Gln513Lys) c.*1462C>A (n.*1462C>A) c.*1783C>A (n.*1783C>A) n.3310C>A c.1543C>A (p.Gln515Lys) c.1786C>A (p.Gln596Lys) c.*866C>A (n.*866C>A) c.1549C>A (p.Gln517Lys) c.1810C>A (p.Gln604Lys) c.1909C>A (p.Gln637Lys) n.4095C>A n.1338C>A c.16C>A (p.Gln6Lys) n.362C>A c.*711C>A (n.*711C>A) c.1792C>A (p.Gln598Lys) c.1915C>A (p.Gln639Lys) c.1648C>A (p.Gln550Lys) c.1642C>A (p.Gln548Lys) c.1525C>A (p.Gln509Lys) c.1903C>A (p.Gln635Lys) c.1636C>A (p.Gln546Lys) c.844C>A (p.Gln282Lys) n.2064C>A | |
8 | g.38415909G>A | CA4718280 | FGFR1 | c.1815C>T (p.Tyr605=) c.1803C>T (p.Tyr601=) n.2708C>T n.637C>T n.505C>T c.1995C>T (p.Tyr665=) n.2503C>T c.1536C>T (p.Tyr512=) c.*1461C>T (n.*1461C>T) c.*1782C>T (n.*1782C>T) n.3309C>T c.1542C>T (p.Tyr514=) c.1785C>T (p.Tyr595=) c.*865C>T (n.*865C>T) c.1548C>T (p.Tyr516=) c.1809C>T (p.Tyr603=) c.1908C>T (p.Tyr636=) n.4094C>T n.1337C>T c.15C>T (p.Tyr5=) n.361C>T c.*710C>T (n.*710C>T) c.1791C>T (p.Tyr597=) c.1914C>T (p.Tyr638=) c.1647C>T (p.Tyr549=) c.1641C>T (p.Tyr547=) c.1524C>T (p.Tyr508=) c.1902C>T (p.Tyr634=) c.1635C>T (p.Tyr545=) c.843C>T (p.Tyr281=) n.2063C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38415909G>C | CA370731599 | FGFR1 | c.1815C>G (p.Tyr605Ter) c.1803C>G (p.Tyr601Ter) n.2708C>G n.637C>G n.505C>G c.1995C>G (p.Tyr665Ter) n.2503C>G c.1536C>G (p.Tyr512Ter) c.*1461C>G (n.*1461C>G) c.*1782C>G (n.*1782C>G) n.3309C>G c.1542C>G (p.Tyr514Ter) c.1785C>G (p.Tyr595Ter) c.*865C>G (n.*865C>G) c.1548C>G (p.Tyr516Ter) c.1809C>G (p.Tyr603Ter) c.1908C>G (p.Tyr636Ter) n.4094C>G n.1337C>G c.15C>G (p.Tyr5Ter) n.361C>G c.*710C>G (n.*710C>G) c.1791C>G (p.Tyr597Ter) c.1914C>G (p.Tyr638Ter) c.1647C>G (p.Tyr549Ter) c.1641C>G (p.Tyr547Ter) c.1524C>G (p.Tyr508Ter) c.1902C>G (p.Tyr634Ter) c.1635C>G (p.Tyr545Ter) c.843C>G (p.Tyr281Ter) n.2063C>G | dbSNP |
8 | g.38415909G= | CA1777535500 | FGFR1 | c.1815C= (p.Tyr605=) c.1803C= (p.Tyr601=) n.2708C= n.637C= n.505C= c.1995C= (p.Tyr665=) n.2503C= c.1536C= (p.Tyr512=) c.*1461C= (n.*1461C=) c.*1782C= (n.*1782C=) n.3309C= c.1542C= (p.Tyr514=) c.1785C= (p.Tyr595=) c.*865C= (n.*865C=) c.1548C= (p.Tyr516=) c.1809C= (p.Tyr603=) c.1908C= (p.Tyr636=) n.4094C= n.1337C= c.15C= (p.Tyr5=) n.361C= c.*710C= (n.*710C=) c.1791C= (p.Tyr597=) c.1914C= (p.Tyr638=) c.1647C= (p.Tyr549=) c.1641C= (p.Tyr547=) c.1524C= (p.Tyr508=) c.1902C= (p.Tyr634=) c.1635C= (p.Tyr545=) c.843C= (p.Tyr281=) n.2063C= | |
8 | g.38415909G>T | CA370731600 | FGFR1 | c.1815C>A (p.Tyr605Ter) c.1803C>A (p.Tyr601Ter) n.2708C>A n.637C>A n.505C>A c.1995C>A (p.Tyr665Ter) n.2503C>A c.1536C>A (p.Tyr512Ter) c.*1461C>A (n.*1461C>A) c.*1782C>A (n.*1782C>A) n.3309C>A c.1542C>A (p.Tyr514Ter) c.1785C>A (p.Tyr595Ter) c.*865C>A (n.*865C>A) c.1548C>A (p.Tyr516Ter) c.1809C>A (p.Tyr603Ter) c.1908C>A (p.Tyr636Ter) n.4094C>A n.1337C>A c.15C>A (p.Tyr5Ter) n.361C>A c.*710C>A (n.*710C>A) c.1791C>A (p.Tyr597Ter) c.1914C>A (p.Tyr638Ter) c.1647C>A (p.Tyr549Ter) c.1641C>A (p.Tyr547Ter) c.1524C>A (p.Tyr508Ter) c.1902C>A (p.Tyr634Ter) c.1635C>A (p.Tyr545Ter) c.843C>A (p.Tyr281Ter) n.2063C>A | |
8 | g.38415910T>A | CA370731601 | FGFR1 | c.1814A>T (p.Tyr605Phe) c.1802A>T (p.Tyr601Phe) n.2707A>T n.636A>T n.504A>T c.1994A>T (p.Tyr665Phe) n.2502A>T c.1535A>T (p.Tyr512Phe) c.*1460A>T (n.*1460A>T) c.*1781A>T (n.*1781A>T) n.3308A>T c.1541A>T (p.Tyr514Phe) c.1784A>T (p.Tyr595Phe) c.*864A>T (n.*864A>T) c.1547A>T (p.Tyr516Phe) c.1808A>T (p.Tyr603Phe) c.1907A>T (p.Tyr636Phe) n.4093A>T n.1336A>T c.14A>T (p.Tyr5Phe) n.360A>T c.*709A>T (n.*709A>T) c.1790A>T (p.Tyr597Phe) c.1913A>T (p.Tyr638Phe) c.1646A>T (p.Tyr549Phe) c.1640A>T (p.Tyr547Phe) c.1523A>T (p.Tyr508Phe) c.1901A>T (p.Tyr634Phe) c.1634A>T (p.Tyr545Phe) c.842A>T (p.Tyr281Phe) n.2062A>T | dbSNP |
8 | g.38415910T>C | CA370731603 | FGFR1 | c.1814A>G (p.Tyr605Cys) c.1802A>G (p.Tyr601Cys) n.2707A>G n.636A>G n.504A>G c.1994A>G (p.Tyr665Cys) n.2502A>G c.1535A>G (p.Tyr512Cys) c.*1460A>G (n.*1460A>G) c.*1781A>G (n.*1781A>G) n.3308A>G c.1541A>G (p.Tyr514Cys) c.1784A>G (p.Tyr595Cys) c.*864A>G (n.*864A>G) c.1547A>G (p.Tyr516Cys) c.1808A>G (p.Tyr603Cys) c.1907A>G (p.Tyr636Cys) n.4093A>G n.1336A>G c.14A>G (p.Tyr5Cys) n.360A>G c.*709A>G (n.*709A>G) c.1790A>G (p.Tyr597Cys) c.1913A>G (p.Tyr638Cys) c.1646A>G (p.Tyr549Cys) c.1640A>G (p.Tyr547Cys) c.1523A>G (p.Tyr508Cys) c.1901A>G (p.Tyr634Cys) c.1634A>G (p.Tyr545Cys) c.842A>G (p.Tyr281Cys) n.2062A>G | dbSNP |
8 | g.38415910T>G | CA370731602 | FGFR1 | c.1814A>C (p.Tyr605Ser) c.1802A>C (p.Tyr601Ser) n.2707A>C n.636A>C n.504A>C c.1994A>C (p.Tyr665Ser) n.2502A>C c.1535A>C (p.Tyr512Ser) c.*1460A>C (n.*1460A>C) c.*1781A>C (n.*1781A>C) n.3308A>C c.1541A>C (p.Tyr514Ser) c.1784A>C (p.Tyr595Ser) c.*864A>C (n.*864A>C) c.1547A>C (p.Tyr516Ser) c.1808A>C (p.Tyr603Ser) c.1907A>C (p.Tyr636Ser) n.4093A>C n.1336A>C c.14A>C (p.Tyr5Ser) n.360A>C c.*709A>C (n.*709A>C) c.1790A>C (p.Tyr597Ser) c.1913A>C (p.Tyr638Ser) c.1646A>C (p.Tyr549Ser) c.1640A>C (p.Tyr547Ser) c.1523A>C (p.Tyr508Ser) c.1901A>C (p.Tyr634Ser) c.1634A>C (p.Tyr545Ser) c.842A>C (p.Tyr281Ser) n.2062A>C | |
8 | g.38415911A>C | CA370731604 | FGFR1 | c.1813T>G (p.Tyr605Asp) c.1801T>G (p.Tyr601Asp) n.2706T>G n.635T>G n.503T>G c.1993T>G (p.Tyr665Asp) n.2501T>G c.1534T>G (p.Tyr512Asp) c.*1459T>G (n.*1459T>G) c.*1780T>G (n.*1780T>G) n.3307T>G c.1540T>G (p.Tyr514Asp) c.1783T>G (p.Tyr595Asp) c.*863T>G (n.*863T>G) c.1546T>G (p.Tyr516Asp) c.1807T>G (p.Tyr603Asp) c.1906T>G (p.Tyr636Asp) n.4092T>G n.1335T>G c.13T>G (p.Tyr5Asp) n.359T>G c.*708T>G (n.*708T>G) c.1789T>G (p.Tyr597Asp) c.1912T>G (p.Tyr638Asp) c.1645T>G (p.Tyr549Asp) c.1639T>G (p.Tyr547Asp) c.1522T>G (p.Tyr508Asp) c.1900T>G (p.Tyr634Asp) c.1633T>G (p.Tyr545Asp) c.841T>G (p.Tyr281Asp) n.2061T>G | |
8 | g.38415911A>G | CA370731605 | FGFR1 | c.1813T>C (p.Tyr605His) c.1801T>C (p.Tyr601His) n.2706T>C n.635T>C n.503T>C c.1993T>C (p.Tyr665His) n.2501T>C c.1534T>C (p.Tyr512His) c.*1459T>C (n.*1459T>C) c.*1780T>C (n.*1780T>C) n.3307T>C c.1540T>C (p.Tyr514His) c.1783T>C (p.Tyr595His) c.*863T>C (n.*863T>C) c.1546T>C (p.Tyr516His) c.1807T>C (p.Tyr603His) c.1906T>C (p.Tyr636His) n.4092T>C n.1335T>C c.13T>C (p.Tyr5His) n.359T>C c.*708T>C (n.*708T>C) c.1789T>C (p.Tyr597His) c.1912T>C (p.Tyr638His) c.1645T>C (p.Tyr549His) c.1639T>C (p.Tyr547His) c.1522T>C (p.Tyr508His) c.1900T>C (p.Tyr634His) c.1633T>C (p.Tyr545His) c.841T>C (p.Tyr281His) n.2061T>C | dbSNP |
8 | g.38415911A>T | CA370731606 | FGFR1 | c.1813T>A (p.Tyr605Asn) c.1801T>A (p.Tyr601Asn) n.2706T>A n.635T>A n.503T>A c.1993T>A (p.Tyr665Asn) n.2501T>A c.1534T>A (p.Tyr512Asn) c.*1459T>A (n.*1459T>A) c.*1780T>A (n.*1780T>A) n.3307T>A c.1540T>A (p.Tyr514Asn) c.1783T>A (p.Tyr595Asn) c.*863T>A (n.*863T>A) c.1546T>A (p.Tyr516Asn) c.1807T>A (p.Tyr603Asn) c.1906T>A (p.Tyr636Asn) n.4092T>A n.1335T>A c.13T>A (p.Tyr5Asn) n.359T>A c.*708T>A (n.*708T>A) c.1789T>A (p.Tyr597Asn) c.1912T>A (p.Tyr638Asn) c.1645T>A (p.Tyr549Asn) c.1639T>A (p.Tyr547Asn) c.1522T>A (p.Tyr508Asn) c.1900T>A (p.Tyr634Asn) c.1633T>A (p.Tyr545Asn) c.841T>A (p.Tyr281Asn) n.2061T>A | dbSNP |
8 | g.38415912G>A | CA460396408 | FGFR1 | c.1812C>T (p.Ala604=) c.1800C>T (p.Ala600=) n.2705C>T n.634C>T n.502C>T c.1992C>T (p.Ala664=) n.2500C>T c.1533C>T (p.Ala511=) c.*1458C>T (n.*1458C>T) c.*1779C>T (n.*1779C>T) n.3306C>T c.1539C>T (p.Ala513=) c.1782C>T (p.Ala594=) c.*862C>T (n.*862C>T) c.1545C>T (p.Ala515=) c.1806C>T (p.Ala602=) c.1905C>T (p.Ala635=) n.4091C>T n.1334C>T c.12C>T (p.Ala4=) n.358C>T c.*707C>T (n.*707C>T) c.1788C>T (p.Ala596=) c.1911C>T (p.Ala637=) c.1644C>T (p.Ala548=) c.1638C>T (p.Ala546=) c.1521C>T (p.Ala507=) c.1899C>T (p.Ala633=) c.1632C>T (p.Ala544=) c.840C>T (p.Ala280=) n.2060C>T | dbSNP |
8 | g.38415912G>C | CA4718281 | FGFR1 | c.1812C>G (p.Ala604=) c.1800C>G (p.Ala600=) n.2705C>G n.634C>G n.502C>G c.1992C>G (p.Ala664=) n.2500C>G c.1533C>G (p.Ala511=) c.*1458C>G (n.*1458C>G) c.*1779C>G (n.*1779C>G) n.3306C>G c.1539C>G (p.Ala513=) c.1782C>G (p.Ala594=) c.*862C>G (n.*862C>G) c.1545C>G (p.Ala515=) c.1806C>G (p.Ala602=) c.1905C>G (p.Ala635=) n.4091C>G n.1334C>G c.12C>G (p.Ala4=) n.358C>G c.*707C>G (n.*707C>G) c.1788C>G (p.Ala596=) c.1911C>G (p.Ala637=) c.1644C>G (p.Ala548=) c.1638C>G (p.Ala546=) c.1521C>G (p.Ala507=) c.1899C>G (p.Ala633=) c.1632C>G (p.Ala544=) c.840C>G (p.Ala280=) n.2060C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38415912G= | CA1777535501 | FGFR1 | c.1812C= (p.Ala604=) c.1800C= (p.Ala600=) n.2705C= n.634C= n.502C= c.1992C= (p.Ala664=) n.2500C= c.1533C= (p.Ala511=) c.*1458C= (n.*1458C=) c.*1779C= (n.*1779C=) n.3306C= c.1539C= (p.Ala513=) c.1782C= (p.Ala594=) c.*862C= (n.*862C=) c.1545C= (p.Ala515=) c.1806C= (p.Ala602=) c.1905C= (p.Ala635=) n.4091C= n.1334C= c.12C= (p.Ala4=) n.358C= c.*707C= (n.*707C=) c.1788C= (p.Ala596=) c.1911C= (p.Ala637=) c.1644C= (p.Ala548=) c.1638C= (p.Ala546=) c.1521C= (p.Ala507=) c.1899C= (p.Ala633=) c.1632C= (p.Ala544=) c.840C= (p.Ala280=) n.2060C= | |
8 | g.38415912G>T | CA460396409 | FGFR1 | c.1812C>A (p.Ala604=) c.1800C>A (p.Ala600=) n.2705C>A n.634C>A n.502C>A c.1992C>A (p.Ala664=) n.2500C>A c.1533C>A (p.Ala511=) c.*1458C>A (n.*1458C>A) c.*1779C>A (n.*1779C>A) n.3306C>A c.1539C>A (p.Ala513=) c.1782C>A (p.Ala594=) c.*862C>A (n.*862C>A) c.1545C>A (p.Ala515=) c.1806C>A (p.Ala602=) c.1905C>A (p.Ala635=) n.4091C>A n.1334C>A c.12C>A (p.Ala4=) n.358C>A c.*707C>A (n.*707C>A) c.1788C>A (p.Ala596=) c.1911C>A (p.Ala637=) c.1644C>A (p.Ala548=) c.1638C>A (p.Ala546=) c.1521C>A (p.Ala507=) c.1899C>A (p.Ala633=) c.1632C>A (p.Ala544=) c.840C>A (p.Ala280=) n.2060C>A | |
8 | g.38415913G>A | CA370731607 | FGFR1 | c.1811C>T (p.Ala604Val) c.1799C>T (p.Ala600Val) n.2704C>T n.633C>T n.501C>T c.1991C>T (p.Ala664Val) n.2499C>T c.1532C>T (p.Ala511Val) c.*1457C>T (n.*1457C>T) c.*1778C>T (n.*1778C>T) n.3305C>T c.1538C>T (p.Ala513Val) c.1781C>T (p.Ala594Val) c.*861C>T (n.*861C>T) c.1544C>T (p.Ala515Val) c.1805C>T (p.Ala602Val) c.1904C>T (p.Ala635Val) n.4090C>T n.1333C>T c.11C>T (p.Ala4Val) n.357C>T c.*706C>T (n.*706C>T) c.1787C>T (p.Ala596Val) c.1910C>T (p.Ala637Val) c.1643C>T (p.Ala548Val) c.1637C>T (p.Ala546Val) c.1520C>T (p.Ala507Val) c.1898C>T (p.Ala633Val) c.1631C>T (p.Ala544Val) c.839C>T (p.Ala280Val) n.2059C>T | dbSNP |
8 | g.38415913G>C | CA370731608 | FGFR1 | c.1811C>G (p.Ala604Gly) c.1799C>G (p.Ala600Gly) n.2704C>G n.633C>G n.501C>G c.1991C>G (p.Ala664Gly) n.2499C>G c.1532C>G (p.Ala511Gly) c.*1457C>G (n.*1457C>G) c.*1778C>G (n.*1778C>G) n.3305C>G c.1538C>G (p.Ala513Gly) c.1781C>G (p.Ala594Gly) c.*861C>G (n.*861C>G) c.1544C>G (p.Ala515Gly) c.1805C>G (p.Ala602Gly) c.1904C>G (p.Ala635Gly) n.4090C>G n.1333C>G c.11C>G (p.Ala4Gly) n.357C>G c.*706C>G (n.*706C>G) c.1787C>G (p.Ala596Gly) c.1910C>G (p.Ala637Gly) c.1643C>G (p.Ala548Gly) c.1637C>G (p.Ala546Gly) c.1520C>G (p.Ala507Gly) c.1898C>G (p.Ala633Gly) c.1631C>G (p.Ala544Gly) c.839C>G (p.Ala280Gly) n.2059C>G | dbSNP |
8 | g.38415913G>T | CA370731609 | FGFR1 | c.1811C>A (p.Ala604Asp) c.1799C>A (p.Ala600Asp) n.2704C>A n.633C>A n.501C>A c.1991C>A (p.Ala664Asp) n.2499C>A c.1532C>A (p.Ala511Asp) c.*1457C>A (n.*1457C>A) c.*1778C>A (n.*1778C>A) n.3305C>A c.1538C>A (p.Ala513Asp) c.1781C>A (p.Ala594Asp) c.*861C>A (n.*861C>A) c.1544C>A (p.Ala515Asp) c.1805C>A (p.Ala602Asp) c.1904C>A (p.Ala635Asp) n.4090C>A n.1333C>A c.11C>A (p.Ala4Asp) n.357C>A c.*706C>A (n.*706C>A) c.1787C>A (p.Ala596Asp) c.1910C>A (p.Ala637Asp) c.1643C>A (p.Ala548Asp) c.1637C>A (p.Ala546Asp) c.1520C>A (p.Ala507Asp) c.1898C>A (p.Ala633Asp) c.1631C>A (p.Ala544Asp) c.839C>A (p.Ala280Asp) n.2059C>A | dbSNP |
8 | g.38415914C>A | CA370731610 | FGFR1 | c.1810G>T (p.Ala604Ser) c.1798G>T (p.Ala600Ser) n.2703G>T n.632G>T n.500G>T c.1990G>T (p.Ala664Ser) n.2498G>T c.1531G>T (p.Ala511Ser) c.*1456G>T (n.*1456G>T) c.*1777G>T (n.*1777G>T) n.3304G>T c.1537G>T (p.Ala513Ser) c.1780G>T (p.Ala594Ser) c.*860G>T (n.*860G>T) c.1543G>T (p.Ala515Ser) c.1804G>T (p.Ala602Ser) c.1903G>T (p.Ala635Ser) n.4089G>T n.1332G>T c.10G>T (p.Ala4Ser) n.356G>T c.*705G>T (n.*705G>T) c.1786G>T (p.Ala596Ser) c.1909G>T (p.Ala637Ser) c.1642G>T (p.Ala548Ser) c.1636G>T (p.Ala546Ser) c.1519G>T (p.Ala507Ser) c.1897G>T (p.Ala633Ser) c.1630G>T (p.Ala544Ser) c.838G>T (p.Ala280Ser) n.2058G>T | |
8 | g.38415914C= | CA1777535502 | FGFR1 | c.1810G= (p.Ala604=) c.1798G= (p.Ala600=) n.2703G= n.632G= n.500G= c.1990G= (p.Ala664=) n.2498G= c.1531G= (p.Ala511=) c.*1456G= (n.*1456G=) c.*1777G= (n.*1777G=) n.3304G= c.1537G= (p.Ala513=) c.1780G= (p.Ala594=) c.*860G= (n.*860G=) c.1543G= (p.Ala515=) c.1804G= (p.Ala602=) c.1903G= (p.Ala635=) n.4089G= n.1332G= c.10G= (p.Ala4=) n.356G= c.*705G= (n.*705G=) c.1786G= (p.Ala596=) c.1909G= (p.Ala637=) c.1642G= (p.Ala548=) c.1636G= (p.Ala546=) c.1519G= (p.Ala507=) c.1897G= (p.Ala633=) c.1630G= (p.Ala544=) c.838G= (p.Ala280=) n.2058G= | |
8 | g.38415914C>G | CA370731611 | FGFR1 | c.1810G>C (p.Ala604Pro) c.1798G>C (p.Ala600Pro) n.2703G>C n.632G>C n.500G>C c.1990G>C (p.Ala664Pro) n.2498G>C c.1531G>C (p.Ala511Pro) c.*1456G>C (n.*1456G>C) c.*1777G>C (n.*1777G>C) n.3304G>C c.1537G>C (p.Ala513Pro) c.1780G>C (p.Ala594Pro) c.*860G>C (n.*860G>C) c.1543G>C (p.Ala515Pro) c.1804G>C (p.Ala602Pro) c.1903G>C (p.Ala635Pro) n.4089G>C n.1332G>C c.10G>C (p.Ala4Pro) n.356G>C c.*705G>C (n.*705G>C) c.1786G>C (p.Ala596Pro) c.1909G>C (p.Ala637Pro) c.1642G>C (p.Ala548Pro) c.1636G>C (p.Ala546Pro) c.1519G>C (p.Ala507Pro) c.1897G>C (p.Ala633Pro) c.1630G>C (p.Ala544Pro) c.838G>C (p.Ala280Pro) n.2058G>C | dbSNP |
8 | g.38415914C>T | CA370731612 | FGFR1 | c.1810G>A (p.Ala604Thr) c.1798G>A (p.Ala600Thr) n.2703G>A n.632G>A n.500G>A c.1990G>A (p.Ala664Thr) n.2498G>A c.1531G>A (p.Ala511Thr) c.*1456G>A (n.*1456G>A) c.*1777G>A (n.*1777G>A) n.3304G>A c.1537G>A (p.Ala513Thr) c.1780G>A (p.Ala594Thr) c.*860G>A (n.*860G>A) c.1543G>A (p.Ala515Thr) c.1804G>A (p.Ala602Thr) c.1903G>A (p.Ala635Thr) n.4089G>A n.1332G>A c.10G>A (p.Ala4Thr) n.356G>A c.*705G>A (n.*705G>A) c.1786G>A (p.Ala596Thr) c.1909G>A (p.Ala637Thr) c.1642G>A (p.Ala548Thr) c.1636G>A (p.Ala546Thr) c.1519G>A (p.Ala507Thr) c.1897G>A (p.Ala633Thr) c.1630G>A (p.Ala544Thr) c.838G>A (p.Ala280Thr) n.2058G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
8 | g.38415915G>A | CA4718282 | FGFR1 | c.1809C>T (p.Cys603=) c.1797C>T (p.Cys599=) n.2702C>T n.631C>T n.499C>T c.1989C>T (p.Cys663=) n.2497C>T c.1530C>T (p.Cys510=) c.*1455C>T (n.*1455C>T) c.*1776C>T (n.*1776C>T) n.3303C>T c.1536C>T (p.Cys512=) c.1779C>T (p.Cys593=) c.*859C>T (n.*859C>T) c.1542C>T (p.Cys514=) c.1803C>T (p.Cys601=) c.1902C>T (p.Cys634=) n.4088C>T n.1331C>T c.9C>T (p.Cys3=) n.355C>T c.*704C>T (n.*704C>T) c.1785C>T (p.Cys595=) c.1908C>T (p.Cys636=) c.1641C>T (p.Cys547=) c.1635C>T (p.Cys545=) c.1518C>T (p.Cys506=) c.1896C>T (p.Cys632=) c.1629C>T (p.Cys543=) c.837C>T (p.Cys279=) n.2057C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
8 | g.38415915G>C | CA370731614 | FGFR1 | c.1809C>G (p.Cys603Trp) c.1797C>G (p.Cys599Trp) n.2702C>G n.631C>G n.499C>G c.1989C>G (p.Cys663Trp) n.2497C>G c.1530C>G (p.Cys510Trp) c.*1455C>G (n.*1455C>G) c.*1776C>G (n.*1776C>G) n.3303C>G c.1536C>G (p.Cys512Trp) c.1779C>G (p.Cys593Trp) c.*859C>G (n.*859C>G) c.1542C>G (p.Cys514Trp) c.1803C>G (p.Cys601Trp) c.1902C>G (p.Cys634Trp) n.4088C>G n.1331C>G c.9C>G (p.Cys3Trp) n.355C>G c.*704C>G (n.*704C>G) c.1785C>G (p.Cys595Trp) c.1908C>G (p.Cys636Trp) c.1641C>G (p.Cys547Trp) c.1635C>G (p.Cys545Trp) c.1518C>G (p.Cys506Trp) c.1896C>G (p.Cys632Trp) c.1629C>G (p.Cys543Trp) c.837C>G (p.Cys279Trp) n.2057C>G | dbSNP gnomAD v4 |
8 | g.38415915G= | CA1777535503 | FGFR1 | c.1809C= (p.Cys603=) c.1797C= (p.Cys599=) n.2702C= n.631C= n.499C= c.1989C= (p.Cys663=) n.2497C= c.1530C= (p.Cys510=) c.*1455C= (n.*1455C=) c.*1776C= (n.*1776C=) n.3303C= c.1536C= (p.Cys512=) c.1779C= (p.Cys593=) c.*859C= (n.*859C=) c.1542C= (p.Cys514=) c.1803C= (p.Cys601=) c.1902C= (p.Cys634=) n.4088C= n.1331C= c.9C= (p.Cys3=) n.355C= c.*704C= (n.*704C=) c.1785C= (p.Cys595=) c.1908C= (p.Cys636=) c.1641C= (p.Cys547=) c.1635C= (p.Cys545=) c.1518C= (p.Cys506=) c.1896C= (p.Cys632=) c.1629C= (p.Cys543=) c.837C= (p.Cys279=) n.2057C= | |
8 | g.38415915G>T | CA370731613 | FGFR1 | c.1809C>A (p.Cys603Ter) c.1797C>A (p.Cys599Ter) n.2702C>A n.631C>A n.499C>A c.1989C>A (p.Cys663Ter) n.2497C>A c.1530C>A (p.Cys510Ter) c.*1455C>A (n.*1455C>A) c.*1776C>A (n.*1776C>A) n.3303C>A c.1536C>A (p.Cys512Ter) c.1779C>A (p.Cys593Ter) c.*859C>A (n.*859C>A) c.1542C>A (p.Cys514Ter) c.1803C>A (p.Cys601Ter) c.1902C>A (p.Cys634Ter) n.4088C>A n.1331C>A c.9C>A (p.Cys3Ter) n.355C>A c.*704C>A (n.*704C>A) c.1785C>A (p.Cys595Ter) c.1908C>A (p.Cys636Ter) c.1641C>A (p.Cys547Ter) c.1635C>A (p.Cys545Ter) c.1518C>A (p.Cys506Ter) c.1896C>A (p.Cys632Ter) c.1629C>A (p.Cys543Ter) c.837C>A (p.Cys279Ter) n.2057C>A | dbSNP |
8 | g.38415916C>A | CA370731617 | FGFR1 | c.1808G>T (p.Cys603Phe) c.1796G>T (p.Cys599Phe) n.2701G>T n.630G>T n.498G>T c.1988G>T (p.Cys663Phe) n.2496G>T c.1529G>T (p.Cys510Phe) c.*1454G>T (n.*1454G>T) c.*1775G>T (n.*1775G>T) n.3302G>T c.1535G>T (p.Cys512Phe) c.1778G>T (p.Cys593Phe) c.*858G>T (n.*858G>T) c.1541G>T (p.Cys514Phe) c.1802G>T (p.Cys601Phe) c.1901G>T (p.Cys634Phe) n.4087G>T n.1330G>T c.8G>T (p.Cys3Phe) n.354G>T c.*703G>T (n.*703G>T) c.1784G>T (p.Cys595Phe) c.1907G>T (p.Cys636Phe) c.1640G>T (p.Cys547Phe) c.1634G>T (p.Cys545Phe) c.1517G>T (p.Cys506Phe) c.1895G>T (p.Cys632Phe) c.1628G>T (p.Cys543Phe) c.836G>T (p.Cys279Phe) n.2056G>T | |
8 | g.38415916C= | CA1777535504 | FGFR1 | c.1808G= (p.Cys603=) c.1796G= (p.Cys599=) n.2701G= n.630G= n.498G= c.1988G= (p.Cys663=) n.2496G= c.1529G= (p.Cys510=) c.*1454G= (n.*1454G=) c.*1775G= (n.*1775G=) n.3302G= c.1535G= (p.Cys512=) c.1778G= (p.Cys593=) c.*858G= (n.*858G=) c.1541G= (p.Cys514=) c.1802G= (p.Cys601=) c.1901G= (p.Cys634=) n.4087G= n.1330G= c.8G= (p.Cys3=) n.354G= c.*703G= (n.*703G=) c.1784G= (p.Cys595=) c.1907G= (p.Cys636=) c.1640G= (p.Cys547=) c.1634G= (p.Cys545=) c.1517G= (p.Cys506=) c.1895G= (p.Cys632=) c.1628G= (p.Cys543=) c.836G= (p.Cys279=) n.2056G= | |
8 | g.38415916C>G | CA370731615 | FGFR1 | c.1808G>C (p.Cys603Ser) c.1796G>C (p.Cys599Ser) n.2701G>C n.630G>C n.498G>C c.1988G>C (p.Cys663Ser) n.2496G>C c.1529G>C (p.Cys510Ser) c.*1454G>C (n.*1454G>C) c.*1775G>C (n.*1775G>C) n.3302G>C c.1535G>C (p.Cys512Ser) c.1778G>C (p.Cys593Ser) c.*858G>C (n.*858G>C) c.1541G>C (p.Cys514Ser) c.1802G>C (p.Cys601Ser) c.1901G>C (p.Cys634Ser) n.4087G>C n.1330G>C c.8G>C (p.Cys3Ser) n.354G>C c.*703G>C (n.*703G>C) c.1784G>C (p.Cys595Ser) c.1907G>C (p.Cys636Ser) c.1640G>C (p.Cys547Ser) c.1634G>C (p.Cys545Ser) c.1517G>C (p.Cys506Ser) c.1895G>C (p.Cys632Ser) c.1628G>C (p.Cys543Ser) c.836G>C (p.Cys279Ser) n.2056G>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.38415916C>T | CA370731616 | FGFR1 | c.1808G>A (p.Cys603Tyr) c.1796G>A (p.Cys599Tyr) n.2701G>A n.630G>A n.498G>A c.1988G>A (p.Cys663Tyr) n.2496G>A c.1529G>A (p.Cys510Tyr) c.*1454G>A (n.*1454G>A) c.*1775G>A (n.*1775G>A) n.3302G>A c.1535G>A (p.Cys512Tyr) c.1778G>A (p.Cys593Tyr) c.*858G>A (n.*858G>A) c.1541G>A (p.Cys514Tyr) c.1802G>A (p.Cys601Tyr) c.1901G>A (p.Cys634Tyr) n.4087G>A n.1330G>A c.8G>A (p.Cys3Tyr) n.354G>A c.*703G>A (n.*703G>A) c.1784G>A (p.Cys595Tyr) c.1907G>A (p.Cys636Tyr) c.1640G>A (p.Cys547Tyr) c.1634G>A (p.Cys545Tyr) c.1517G>A (p.Cys506Tyr) c.1895G>A (p.Cys632Tyr) c.1628G>A (p.Cys543Tyr) c.836G>A (p.Cys279Tyr) n.2056G>A | dbSNP |
8 | g.38415917A>C | CA370731618 | FGFR1 | c.1807T>G (p.Cys603Gly) c.1795T>G (p.Cys599Gly) n.2700T>G n.629T>G n.497T>G c.1987T>G (p.Cys663Gly) n.2495T>G c.1528T>G (p.Cys510Gly) c.*1453T>G (n.*1453T>G) c.*1774T>G (n.*1774T>G) n.3301T>G c.1534T>G (p.Cys512Gly) c.1777T>G (p.Cys593Gly) c.*857T>G (n.*857T>G) c.1540T>G (p.Cys514Gly) c.1801T>G (p.Cys601Gly) c.1900T>G (p.Cys634Gly) n.4086T>G n.1329T>G c.7T>G (p.Cys3Gly) n.353T>G c.*702T>G (n.*702T>G) c.1783T>G (p.Cys595Gly) c.1906T>G (p.Cys636Gly) c.1639T>G (p.Cys547Gly) c.1633T>G (p.Cys545Gly) c.1516T>G (p.Cys506Gly) c.1894T>G (p.Cys632Gly) c.1627T>G (p.Cys543Gly) c.835T>G (p.Cys279Gly) n.2055T>G | dbSNP |
8 | g.38415917A>G | CA370731619 | FGFR1 | c.1807T>C (p.Cys603Arg) c.1795T>C (p.Cys599Arg) n.2700T>C n.629T>C n.497T>C c.1987T>C (p.Cys663Arg) n.2495T>C c.1528T>C (p.Cys510Arg) c.*1453T>C (n.*1453T>C) c.*1774T>C (n.*1774T>C) n.3301T>C c.1534T>C (p.Cys512Arg) c.1777T>C (p.Cys593Arg) c.*857T>C (n.*857T>C) c.1540T>C (p.Cys514Arg) c.1801T>C (p.Cys601Arg) c.1900T>C (p.Cys634Arg) n.4086T>C n.1329T>C c.7T>C (p.Cys3Arg) n.353T>C c.*702T>C (n.*702T>C) c.1783T>C (p.Cys595Arg) c.1906T>C (p.Cys636Arg) c.1639T>C (p.Cys547Arg) c.1633T>C (p.Cys545Arg) c.1516T>C (p.Cys506Arg) c.1894T>C (p.Cys632Arg) c.1627T>C (p.Cys543Arg) c.835T>C (p.Cys279Arg) n.2055T>C | dbSNP |