Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.38413642_38418900dupCA2580614557FGFR1c.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
8g.38415905C>ACA370731590FGFR1c.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
8g.38415905C=CA1777535497FGFR1c.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=
8g.38415905C>GCA370731589FGFR1c.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
8g.38415905C>TCA130216FGFR1c.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
8g.38415905_38415906insGTGAAGATCA4718278FGFR1c.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
8g.38415906C>ACA370731591FGFR1c.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
8g.38415906C=CA1777535498FGFR1c.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=
8g.38415906C>GCA370731592FGFR1c.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
8g.38415906C>TCA460396407FGFR1c.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
8g.38415907T>ACA370731593FGFR1c.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
8g.38415907T>CCA370731594FGFR1c.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
8g.38415907T>GCA370731595FGFR1c.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
8g.38415907T=CA1777535499FGFR1c.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=
8g.38415907_38415908insCCCACAGGAGCACCCCGAAAGACCACCTGCAAATCA4718279FGFR1c.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
8g.38415907_38415908insCCCACAGGAGCACCCCGAAAGACCACCTGCAAATGCA581431232FGFR1c.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
8g.38415908G>ACA370731596FGFR1c.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
8g.38415908G>CCA370731597FGFR1c.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
8g.38415908G>TCA370731598FGFR1c.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
8g.38415909G>ACA4718280FGFR1c.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
8g.38415909G>CCA370731599FGFR1c.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
8g.38415909G=CA1777535500FGFR1c.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=
8g.38415909G>TCA370731600FGFR1c.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
8g.38415910T>ACA370731601FGFR1c.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
8g.38415910T>CCA370731603FGFR1c.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
8g.38415910T>GCA370731602FGFR1c.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
8g.38415911A>CCA370731604FGFR1c.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
8g.38415911A>GCA370731605FGFR1c.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
8g.38415911A>TCA370731606FGFR1c.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
8g.38415912G>ACA460396408FGFR1c.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
8g.38415912G>CCA4718281FGFR1c.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
8g.38415912G=CA1777535501FGFR1c.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=
8g.38415912G>TCA460396409FGFR1c.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
8g.38415913G>ACA370731607FGFR1c.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
8g.38415913G>CCA370731608FGFR1c.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
8g.38415913G>TCA370731609FGFR1c.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
8g.38415914C>ACA370731610FGFR1c.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
8g.38415914C=CA1777535502FGFR1c.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=
8g.38415914C>GCA370731611FGFR1c.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
8g.38415914C>TCA370731612FGFR1c.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
8g.38415915G>ACA4718282FGFR1c.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
8g.38415915G>CCA370731614FGFR1c.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
8g.38415915G=CA1777535503FGFR1c.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=
8g.38415915G>TCA370731613FGFR1c.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
8g.38415916C>ACA370731617FGFR1c.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
8g.38415916C=CA1777535504FGFR1c.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=
8g.38415916C>GCA370731615FGFR1c.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
8g.38415916C>TCA370731616FGFR1c.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
8g.38415917A>CCA370731618FGFR1c.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
8g.38415917A>GCA370731619FGFR1c.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

Number of alleles fetched