PCGP germline mutation   [Top]

PCGP somatic mutation   [Top]

FBN1_T1299A; chr15; 48773921

FBN1_D2285D; chr15; 48722884

FBN1_E66_UTR_3; chr15; 48701889

FBN1_P2198P; chr15; 48726813

FBN1_I2350I; chr15; 48719918

COSMIC somatic mutation   [Top]

c.5726T>C; p.I1909T;

c.8219A>G; p.N2740S;

c.8219A>G; p.N2740S;

c.6256G>T; p.A2086S;

c.6256G>T; p.A2086S;

c.7209C>G; p.I2403M;

c.2153C>A; p.T718K;

c.1915T>C; p.C639R;

c.1762A>G; p.I588V;

c.1762A>G; p.I588V;

c.8517G>T; p.K2839N;

c.1390C>T; p.R464C;

c.3455C>T; p.A1152V;

c.2371A>G; p.T791A;

c.755C>A; p.A252D;

c.6757G>T; p.E2253*;

c.2921G>A; p.R974H;

c.7231G>A; p.D2411N;

c.6152G>A; p.R2051K;

c.5518C>T; p.R1840C;

c.5251C>A; p.Q1751K;

c.6577G>A; p.E2193K;

c.3590A>G; p.D1197G;

c.39T>G; p.F13L;

c.5151G>C; p.K1717N;

c.3896C>A; p.T1299K;

c.5549G>C; p.R1850P;

c.3453C>T; p.S1151S;

c.372G>A; p.M124I;

c.2540-2A>G; p.?;

c.234T>G; p.N78K;

c.5739C>T; p.N1913N; 15:46526244-46526244

c.122G>T; p.R41L;

c.6232C>A; p.H2078N;

c.2494T>C; p.C832R;

c.8311G>A; p.V2771I;

c.7152G>A; p.V2384V;

c.6629G>T; p.C2210F;

c.4815A>C; p.E1605D;

c.6460C>T; p.P2154S;

c.7748A>C; p.N2583T;

c.1369C>T; p.R457C;

c.7142A>C; p.Q2381P;

c.2705G>T; p.R902I;

c.7204+5T>C; p.?;

c.3589+1G>A; p.?;

c.4589G>A; p.R1530H;

c.5932C>T; p.L1978F;

c.7205-1G>C; p.?;

c.5151G>C; p.K1717N;

c.6943A>G; p.T2315A;

c.434G>A; p.C145Y;

c.4663G>T; p.V1555F;

c.7070C>T; p.P2357L;

c.7071C>T; p.P2357P;

c.5743_5744insT; p.R1915fs*13;

c.1634G>T; p.R545L;

c.5605G>T; p.V1869F;

c.2854G>T; p.D952Y;

c.7531T>C; p.C2511R;

c.394G>A; p.D132N;

c.2003G>T; p.G668V;

c.5084G>A; p.C1695Y;

c.6466G>T; p.G2156C;

c.3563C>T; p.S1188L;

c.2646G>T; p.A882A;

c.4421T>C; p.I1474T;

c.7041G>T; p.M2347I;

c.1429A>T; p.N477Y;

c.5459G>C; p.R1820P;

c.5310C>T; p.C1770C;

c.3936C>A; p.S1312S;

c.311C>T; p.S104F;

c.3361C>T; p.P1121S;

c.4446C>T; p.G1482G;

c.8092G>T; p.E2698*;

c.185G>A; p.R62H;

c.7364G>T; p.C2455F;

c.5575A>T; p.I1859L;

c.5106C>T; p.D1702D;

c.6277G>A; p.G2093R;

c.2307T>A; p.C769*;

c.7858G>A; p.A2620T;

c.7605C>T; p.C2535C;

c.548C>A; p.T183K;

c.3777A>C; p.G1259G;

c.5087A>G; p.Y1696C;

c.8164G>A; p.G2722S;

c.4898G>T; p.C1633F;

c.8004C>T; p.G2668G;

c.5458C>T; p.R1820C;

c.5002G>T; p.G1668C;

c.7050C>T; p.I2350I;

c.7370T>G; p.F2457C;

c.1369C>T; p.R457C;

c.4999G>T; p.V1667F;

c.3971A>T; p.N1324I;

c.7701C>T; p.D2567D; 15:46500294-46500294

c.2513T>C; p.L838S;

c.249C>T; p.P83P;

c.2644G>T; p.A882S;

c.2022G>A; p.L674L;

c.2935G>T; p.A979S;

c.7174C>T; p.H2392Y;

c.2403T>C; p.D801D;

c.7839C>T; p.S2613S;

c.938G>C; p.C313S; 15:46605669-46605669

c.5363G>T; p.S1788I;

c.1355A>G; p.Y452C;

c.3013G>T; p.E1005*;

c.2256A>G; p.S752S;

c.4139G>A; p.C1380Y;

c.7513G>T; p.G2505C;

c.634A>G; p.T212A;

c.6613G>A; p.E2205K;

c.7419C>A; p.G2473G;

c.3644C>G; p.S1215C;

c.5666G>T; p.C1889F;

c.1837+1G>T; p.?;

c.8401G>A; p.D2801N;

c.7219A>G; p.K2407E;

c.5084G>T; p.C1695F;

c.892A>G; p.I298V;

c.5367C>T; p.F1789F;

c.7702G>T; p.V2568L;

c.1175C>T; p.P392L;

c.5784T>C; p.C1928C;

c.7230C>A; p.H2410Q;

c.3310G>A; p.G1104R;

c.8519A>G; p.K2840R;

c.765G>T; p.G255G;

c.2877C>G; p.F959L;

c.1534A>C; p.T512P;

c.7789C>T; p.L2597F;

c.8511T>A; p.Y2837*;

c.2979C>T; p.C993C;

c.5179C>T; p.R1727W;

c.1336C>T; p.P446S;

c.2664C>A; p.T888T;

c.8148C>T; p.Y2716Y;

c.6466G>T; p.G2156C;

c.7143G>A; p.Q2381Q;

c.882C>T; p.T294T;

c.6879T>A; p.N2293K;

c.2755G>A; p.G919R;

c.5744G>A; p.R1915H;

c.8002G>T; p.G2668C;

c.7918G>A; p.E2640K;

c.7487G>A; p.C2496Y;

c.3428G>A; p.G1143D;

c.2657C>T; p.P886L;

c.6916C>T; p.R2306C;

c.1735A>G; p.R579G;

c.3853G>A; p.D1285N;

c.937T>C; p.C313R;

c.4197C>T; p.G1399G;

c.5540G>A; p.C1847Y;

c.3758A>T; p.Q1253L;

c.1972C>T; p.R658W;

c.8188C>T; p.R2730W;

c.8071G>C; p.G2691R;

c.6633C>T; p.A2211A;

c.8326C>T; p.R2776*;

c.6598C>T; p.P2200S;

c.639C>T; p.V213V;

c.7366A>G; p.N2456D;

c.4616G>A; p.R1539Q;

c.1660C>A; p.H554N;

c.1547G>A; p.R516Q;

c.5821C>A; p.L1941I;

c.5125G>T; p.E1709*;

c.7050C>T; p.I2350I;

c.4645T>C; p.C1549R;

c.5382A>G; p.P1794P;

c.8038C>T; p.R2680C;

c.6453C>T; p.C2151C;

c.2290G>A; p.V764I;

c.7968G>T; p.Q2656H;

c.4108G>T; p.G1370*;

c.3929G>A; p.G1310D;

c.2886C>T; p.Y962Y;

c.8410T>C; p.F2804L;

c.1633C>T; p.R545C;

c.494G>A; p.R165Q;

c.2495G>C; p.C832S;

c.7833C>T; p.C2611C;

c.8350C>A; p.L2784I;

c.5391C>A; p.F1797L;

c.4240C>A; p.L1414I;

c.3744C>A; p.I1248I;

c.6436G>T; p.D2146Y;

c.6289G>A; p.E2097K;

c.1879C>T; p.R627C;

c.4487C>T; p.T1496M;

c.4277G>T; p.G1426V;

c.1823G>A; p.G608E;

c.3174C>T; p.G1058G;

c.1838-1G>A; p.?;

c.1547G>A; p.R516Q;

c.8004C>T; p.G2668G;

c.7373T>C; p.I2458T;

c.965C>A; p.S322Y;

c.3602G>C; p.C1201S;

c.7072G>A; p.V2358I;

c.6164-1G>T; p.?;

c.5016T>C; p.C1672C;

c.4861A>C; p.K1621Q;

c.6010T>C; p.Y2004H;

c.8521G>T; p.E2841*;

c.7161G>T; p.K2387N;

c.4567C>T; p.R1523*;

c.3717C>T; p.I1239I;

c.3052G>T; p.E1018*;

c.2455G>T; p.G819*;

c.2227C>T; p.R743C;

c.5476A>G; p.N1826D;

c.2309T>C; p.V770A;

c.7241G>A; p.R2414Q;

c.4469A>C; p.E1490A;

c.3382G>T; p.V1128F;

c.2400T>C; p.P800P;

c.8257C>A; p.L2753I;

c.6397G>T; p.E2133*;

c.5856G>A; p.G1952G;

c.4429G>A; p.E1477K;

c.4230G>T; p.E1410D;

c.4038C>A; p.F1346L;

c.3704C>A; p.S1235*;

c.2720A>C; p.Q907P;

c.2165G>A; p.S722N;

c.6697C>T; p.P2233S;

c.5599G>A; p.D1867N;

c.5563G>T; p.E1855*;

c.4204_4205insT; p.C1402fs*5;

c.6170G>A; p.R2057Q;

c.4181G>T; p.G1394V;

c.4933G>A; p.V1645M;

c.2313G>T; p.L771L;

c.7276C>A; p.H2426N;

c.803C>T; p.S268F;

c.6011A>G; p.Y2004C;

c.3468C>T; p.I1156I;

c.3013G>T; p.E1005*;

c.6872-1G>T; p.?;

c.4257G>A; p.Q1419Q;

c.6546G>T; p.K2182N;

c.3571G>A; p.D1191N;

c.3223C>T; p.R1075C;

c.3926T>C; p.M1309T;

c.4337-1G>T; p.?;

c.5609G>A; p.G1870E;

c.2860C>T; p.R954C;

c.2419+2T>C; p.?;

c.6358G>A; p.G2120R;

c.5343G>T; p.V1781V;

c.4184A>G; p.Y1395C;

c.2433C>T; p.C811C;

c.7230C>T; p.H2410H;

c.938G>A; p.C313Y;

c.8500A>G; p.T2834A;

c.608T>C; p.V203A;

c.7605C>T; p.C2535C;

c.2288G>T; p.C763F;

c.5219G>A; p.S1740N;

c.4405C>T; p.R1469C;

c.4094A>G; p.D1365G;

c.7207A>C; p.I2403L;

c.5391C>A; p.F1797L;

c.3972T>C; p.N1324N;

c.1838-1G>A; p.?;

c.6397G>T; p.E2133*;

c.2708T>A; p.I903N;

c.8202C>T; p.N2734N;

c.5197T>A; p.C1733S;

c.7192A>C; p.T2398P;

c.355T>G; p.C119G;

c.6953G>A; p.C2318Y;

c.3095G>A; p.C1032Y;

c.2425G>A; p.D809N;

c.5283C>G; p.T1761T;

c.3768T>A; p.N1256K;

c.7240C>T; p.R2414*;

c.8536G>A; p.E2846K;

c.4259G>T; p.C1420F;

c.2645C>T; p.A882V;

c.4024A>G; p.T1342A;

c.5999G>T; p.C2000F;

c.2393A>G; p.Y798C;

c.2044G>A; p.E682K;

c.1838-1G>A; p.?;

c.4290A>C; p.E1430D;

c.3478G>A; p.E1160K;

c.470G>C; p.G157A;

c.3920G>A; p.C1307Y;

c.7851C>T; p.C2617C;

c.6596G>A; p.G2199D;

c.1077C>A; p.C359*;

c.5360G>A; p.G1787D;

c.209G>C; p.G70A;

c.8133C>T; p.S2711S;

c.3937G>C; p.G1313R;

c.4480C>T; p.P1494S;

c.2092C>T; p.P698S;

c.689C>T; p.P230L;

c.6761G>A; p.G2254E;

c.6266G>A; p.G2089E;

c.4615C>T; p.R1539*;

c.4682C>T; p.S1561F;

c.2729-9delt; p.?;

c.6191A>T; p.K2064M;