Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.128304991G>A | CA446306361 | FBN2 | n.2550C>T n.2469C>T c.5766C>T (p.Gly1922=) c.5763C>T (p.Gly1921=) c.5613C>T (p.Gly1871=) | |
5 | g.128304991G>C | CA446306362 | FBN2 | n.2550C>G n.2469C>G c.5766C>G (p.Gly1922=) c.5763C>G (p.Gly1921=) c.5613C>G (p.Gly1871=) | |
5 | g.128304991G>T | CA446306363 | FBN2 | n.2550C>A n.2469C>A c.5766C>A (p.Gly1922=) c.5763C>A (p.Gly1921=) c.5613C>A (p.Gly1871=) | |
5 | g.128304992C>A | CA360739860 | FBN2 | n.2549G>T n.2468G>T c.5765G>T (p.Gly1922Val) c.5762G>T (p.Gly1921Val) c.5612G>T (p.Gly1871Val) | |
5 | g.128304992C>G | CA360739864 | FBN2 | n.2549G>C n.2468G>C c.5765G>C (p.Gly1922Ala) c.5762G>C (p.Gly1921Ala) c.5612G>C (p.Gly1871Ala) | |
5 | g.128304992C>T | CA360739862 | FBN2 | n.2549G>A n.2468G>A c.5765G>A (p.Gly1922Asp) c.5762G>A (p.Gly1921Asp) c.5612G>A (p.Gly1871Asp) | |
5 | g.128304993C>A | CA360739866 | FBN2 | n.2548G>T n.2467G>T c.5764G>T (p.Gly1922Cys) c.5761G>T (p.Gly1921Cys) c.5611G>T (p.Gly1871Cys) | |
5 | g.128304993C>G | CA360739867 | FBN2 | n.2548G>C n.2467G>C c.5764G>C (p.Gly1922Arg) c.5761G>C (p.Gly1921Arg) c.5611G>C (p.Gly1871Arg) | |
5 | g.128304993C>T | CA360739869 | FBN2 | n.2548G>A n.2467G>A c.5764G>A (p.Gly1922Ser) c.5761G>A (p.Gly1921Ser) c.5611G>A (p.Gly1871Ser) | gnomAD v4 |
5 | g.128304994A>C | CA360739872 | FBN2 | n.2547T>G n.2466T>G c.5763T>G (p.Asn1921Lys) c.5760T>G (p.Asn1920Lys) c.5610T>G (p.Asn1870Lys) | |
5 | g.128304994A>G | CA446306366 | FBN2 | n.2547T>C n.2466T>C c.5763T>C (p.Asn1921=) c.5760T>C (p.Asn1920=) c.5610T>C (p.Asn1870=) | gnomAD v4 |
5 | g.128304994A>T | CA360739873 | FBN2 | n.2547T>A n.2466T>A c.5763T>A (p.Asn1921Lys) c.5760T>A (p.Asn1920Lys) c.5610T>A (p.Asn1870Lys) | |
5 | g.128304995T>A | CA360739876 | FBN2 | n.2546A>T n.2465A>T c.5762A>T (p.Asn1921Ile) c.5759A>T (p.Asn1920Ile) c.5609A>T (p.Asn1870Ile) | |
5 | g.128304995T>C | CA360739877 | FBN2 | n.2546A>G n.2465A>G c.5762A>G (p.Asn1921Ser) c.5759A>G (p.Asn1920Ser) c.5609A>G (p.Asn1870Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128304995T>G | CA360739879 | FBN2 | n.2546A>C n.2465A>C c.5762A>C (p.Asn1921Thr) c.5759A>C (p.Asn1920Thr) c.5609A>C (p.Asn1870Thr) | |
5 | g.128304995T= | CA1581255392 | FBN2 | n.2546A= n.2465A= c.5762A= (p.Asn1921=) c.5759A= (p.Asn1920=) c.5609A= (p.Asn1870=) | |
5 | g.128304996_128304998dup | CA446306367 | FBN2 | n.2544_2546dup n.2463_2465dup c.5760_5762dup (p.Asn1921_Gly1922insAsn) c.5757_5759dup (p.Asn1920_Gly1921insAsn) c.5607_5609dup (p.Asn1870_Gly1871insAsn) | |
5 | g.128304996T>A | CA126983115 | FBN2 | n.2545A>T n.2464A>T c.5761A>T (p.Asn1921Tyr) c.5758A>T (p.Asn1920Tyr) c.5608A>T (p.Asn1870Tyr) | dbSNP |
5 | g.128304996T>C | CA360739884 | FBN2 | n.2545A>G n.2464A>G c.5761A>G (p.Asn1921Asp) c.5758A>G (p.Asn1920Asp) c.5608A>G (p.Asn1870Asp) | gnomAD v4 |
5 | g.128304996T>G | CA360739882 | FBN2 | n.2545A>C n.2464A>C c.5761A>C (p.Asn1921His) c.5758A>C (p.Asn1920His) c.5608A>C (p.Asn1870His) | |
5 | g.128304996T= | CA1581255393 | FBN2 | n.2545A= n.2464A= c.5761A= (p.Asn1921=) c.5758A= (p.Asn1920=) c.5608A= (p.Asn1870=) | |
5 | g.128304997G>A | CA126983116 | FBN2 | n.2544C>T n.2463C>T c.5760C>T (p.His1920=) c.5757C>T (p.His1919=) c.5607C>T (p.His1869=) | dbSNP |
5 | g.128304997G>C | CA360739886 | FBN2 | n.2544C>G n.2463C>G c.5760C>G (p.His1920Gln) c.5757C>G (p.His1919Gln) c.5607C>G (p.His1869Gln) | |
5 | g.128304997G= | CA1581255394 | FBN2 | n.2544C= n.2463C= c.5760C= (p.His1920=) c.5757C= (p.His1919=) c.5607C= (p.His1869=) | |
5 | g.128304997G>T | CA360739888 | FBN2 | n.2544C>A n.2463C>A c.5760C>A (p.His1920Gln) c.5757C>A (p.His1919Gln) c.5607C>A (p.His1869Gln) | |
5 | g.128304998T>A | CA360739889 | FBN2 | n.2543A>T n.2462A>T c.5759A>T (p.His1920Leu) c.5756A>T (p.His1919Leu) c.5606A>T (p.His1869Leu) | |
5 | g.128304998T>C | CA360739891 | FBN2 | n.2543A>G n.2462A>G c.5759A>G (p.His1920Arg) c.5756A>G (p.His1919Arg) c.5606A>G (p.His1869Arg) | ClinVar dbSNP gnomAD v4 |
5 | g.128304998T>G | CA360739893 | FBN2 | n.2543A>C n.2462A>C c.5759A>C (p.His1920Pro) c.5756A>C (p.His1919Pro) c.5606A>C (p.His1869Pro) | |
5 | g.128304998T= | CA1581255395 | FBN2 | n.2543A= n.2462A= c.5759A= (p.His1920=) c.5756A= (p.His1919=) c.5606A= (p.His1869=) | |
5 | g.128304999G>A | CA360739895 | FBN2 | n.2542C>T n.2461C>T c.5758C>T (p.His1920Tyr) c.5755C>T (p.His1919Tyr) c.5605C>T (p.His1869Tyr) | gnomAD v4 |
5 | g.128304999G>C | CA360739898 | FBN2 | n.2542C>G n.2461C>G c.5758C>G (p.His1920Asp) c.5755C>G (p.His1919Asp) c.5605C>G (p.His1869Asp) | |
5 | g.128304999G>T | CA360739896 | FBN2 | n.2542C>A n.2461C>A c.5758C>A (p.His1920Asn) c.5755C>A (p.His1919Asn) c.5605C>A (p.His1869Asn) | |
5 | g.128305000G>A | CA446306368 | FBN2 | n.2541C>T n.2460C>T c.5757C>T (p.Cys1919=) c.5754C>T (p.Cys1918=) c.5604C>T (p.Cys1868=) | gnomAD v4 |
5 | g.128305000G>C | CA360739900 | FBN2 | n.2541C>G n.2460C>G c.5757C>G (p.Cys1919Trp) c.5754C>G (p.Cys1918Trp) c.5604C>G (p.Cys1868Trp) | |
5 | g.128305000G>T | CA360739902 | FBN2 | n.2541C>A n.2460C>A c.5757C>A (p.Cys1919Ter) c.5754C>A (p.Cys1918Ter) c.5604C>A (p.Cys1868Ter) | |
5 | g.128305001C>A | CA360739904 | FBN2 | n.2540G>T n.2459G>T c.5756G>T (p.Cys1919Phe) c.5753G>T (p.Cys1918Phe) c.5603G>T (p.Cys1868Phe) | dbSNP |
5 | g.128305001C= | CA1581255396 | FBN2 | n.2540G= n.2459G= c.5756G= (p.Cys1919=) c.5753G= (p.Cys1918=) c.5603G= (p.Cys1868=) | |
5 | g.128305001C>G | CA360739906 | FBN2 | n.2540G>C n.2459G>C c.5756G>C (p.Cys1919Ser) c.5753G>C (p.Cys1918Ser) c.5603G>C (p.Cys1868Ser) | |
5 | g.128305001C>T | CA360739907 | FBN2 | n.2540G>A n.2459G>A c.5756G>A (p.Cys1919Tyr) c.5753G>A (p.Cys1918Tyr) c.5603G>A (p.Cys1868Tyr) | |
5 | g.128305002A>C | CA360739911 | FBN2 | n.2539T>G n.2458T>G c.5755T>G (p.Cys1919Gly) c.5752T>G (p.Cys1918Gly) c.5602T>G (p.Cys1868Gly) | |
5 | g.128305002A>G | CA360739913 | FBN2 | n.2539T>C n.2458T>C c.5755T>C (p.Cys1919Arg) c.5752T>C (p.Cys1918Arg) c.5602T>C (p.Cys1868Arg) | |
5 | g.128305002A>T | CA360739914 | FBN2 | n.2539T>A n.2458T>A c.5755T>A (p.Cys1919Ser) c.5752T>A (p.Cys1918Ser) c.5602T>A (p.Cys1868Ser) | |
5 | g.128305003G>A | CA446306369 | FBN2 | n.2538C>T n.2457C>T c.5754C>T (p.Ile1918=) c.5751C>T (p.Ile1917=) c.5601C>T (p.Ile1867=) | |
5 | g.128305003G>C | CA360739916 | FBN2 | n.2538C>G n.2457C>G c.5754C>G (p.Ile1918Met) c.5751C>G (p.Ile1917Met) c.5601C>G (p.Ile1867Met) | |
5 | g.128305003G= | CA1581255397 | FBN2 | n.2538C= n.2457C= c.5754C= (p.Ile1918=) c.5751C= (p.Ile1917=) c.5601C= (p.Ile1867=) | |
5 | g.128305003G>T | CA446306370 | FBN2 | n.2538C>A n.2457C>A c.5754C>A (p.Ile1918=) c.5751C>A (p.Ile1917=) c.5601C>A (p.Ile1867=) | ClinVar dbSNP |
5 | g.128305004A>C | CA360739918 | FBN2 | n.2537T>G n.2456T>G c.5753T>G (p.Ile1918Ser) c.5750T>G (p.Ile1917Ser) c.5600T>G (p.Ile1867Ser) | |
5 | g.128305004A>G | CA360739920 | FBN2 | n.2537T>C n.2456T>C c.5753T>C (p.Ile1918Thr) c.5750T>C (p.Ile1917Thr) c.5600T>C (p.Ile1867Thr) | |
5 | g.128305004A>T | CA360739921 | FBN2 | n.2537T>A n.2456T>A c.5753T>A (p.Ile1918Asn) c.5750T>A (p.Ile1917Asn) c.5600T>A (p.Ile1867Asn) | |
5 | g.128305005T>A | CA3394604 | FBN2 | n.2536A>T n.2455A>T c.5752A>T (p.Ile1918Phe) c.5749A>T (p.Ile1917Phe) c.5599A>T (p.Ile1867Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128305005T>C | CA360739924 | FBN2 | n.2536A>G n.2455A>G c.5752A>G (p.Ile1918Val) c.5749A>G (p.Ile1917Val) c.5599A>G (p.Ile1867Val) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128305005T>G | CA360739926 | FBN2 | n.2536A>C n.2455A>C c.5752A>C (p.Ile1918Leu) c.5749A>C (p.Ile1917Leu) c.5599A>C (p.Ile1867Leu) | |
5 | g.128305005T= | CA1581255398 | FBN2 | n.2536A= n.2455A= c.5752A= (p.Ile1918=) c.5749A= (p.Ile1917=) c.5599A= (p.Ile1867=) | |
5 | g.128305006G>A | CA446306371 | FBN2 | n.2535C>T n.2454C>T c.5751C>T (p.Cys1917=) c.5748C>T (p.Cys1916=) c.5598C>T (p.Cys1866=) | |
5 | g.128305006G>C | CA360739928 | FBN2 | n.2535C>G n.2454C>G c.5751C>G (p.Cys1917Trp) c.5748C>G (p.Cys1916Trp) c.5598C>G (p.Cys1866Trp) | |
5 | g.128305006G>T | CA360739930 | FBN2 | n.2535C>A n.2454C>A c.5751C>A (p.Cys1917Ter) c.5748C>A (p.Cys1916Ter) c.5598C>A (p.Cys1866Ter) | |
5 | g.128305007C>A | CA360739933 | FBN2 | n.2534G>T n.2453G>T c.5750G>T (p.Cys1917Phe) c.5747G>T (p.Cys1916Phe) c.5597G>T (p.Cys1866Phe) | |
5 | g.128305007C>G | CA360739934 | FBN2 | n.2534G>C n.2453G>C c.5750G>C (p.Cys1917Ser) c.5747G>C (p.Cys1916Ser) c.5597G>C (p.Cys1866Ser) | |
5 | g.128305007C>T | CA360739936 | FBN2 | n.2534G>A n.2453G>A c.5750G>A (p.Cys1917Tyr) c.5747G>A (p.Cys1916Tyr) c.5597G>A (p.Cys1866Tyr) | ClinVar gnomAD v4 |
5 | g.128305008A>C | CA360739939 | FBN2 | n.2533T>G n.2452T>G c.5749T>G (p.Cys1917Gly) c.5746T>G (p.Cys1916Gly) c.5596T>G (p.Cys1866Gly) | |
5 | g.128305008A>G | CA360739940 | FBN2 | n.2533T>C n.2452T>C c.5749T>C (p.Cys1917Arg) c.5746T>C (p.Cys1916Arg) c.5596T>C (p.Cys1866Arg) | |
5 | g.128305008A>T | CA360739942 | FBN2 | n.2533T>A n.2452T>A c.5749T>A (p.Cys1917Ser) c.5746T>A (p.Cys1916Ser) c.5596T>A (p.Cys1866Ser) | |
5 | g.128305009C>A | CA360739945 | FBN2 | n.2532G>T n.2451G>T c.5748G>T (p.Gln1916His) c.5745G>T (p.Gln1915His) c.5595G>T (p.Gln1865His) | |
5 | g.128305009C>G | CA360739946 | FBN2 | n.2532G>C n.2451G>C c.5748G>C (p.Gln1916His) c.5745G>C (p.Gln1915His) c.5595G>C (p.Gln1865His) | |
5 | g.128305009C>T | CA446306372 | FBN2 | n.2532G>A n.2451G>A c.5748G>A (p.Gln1916=) c.5745G>A (p.Gln1915=) c.5595G>A (p.Gln1865=) | |
5 | g.128305010T>A | CA360739949 | FBN2 | n.2531A>T n.2450A>T c.5747A>T (p.Gln1916Leu) c.5744A>T (p.Gln1915Leu) c.5594A>T (p.Gln1865Leu) | |
5 | g.128305010T>C | CA360739950 | FBN2 | n.2531A>G n.2450A>G c.5747A>G (p.Gln1916Arg) c.5744A>G (p.Gln1915Arg) c.5594A>G (p.Gln1865Arg) | |
5 | g.128305010T>G | CA360739952 | FBN2 | n.2531A>C n.2450A>C c.5747A>C (p.Gln1916Pro) c.5744A>C (p.Gln1915Pro) c.5594A>C (p.Gln1865Pro) | |
5 | g.128305011G>A | CA360739958 | FBN2 | n.2530C>T n.2449C>T c.5746C>T (p.Gln1916Ter) c.5743C>T (p.Gln1915Ter) c.5593C>T (p.Gln1865Ter) | |
5 | g.128305011G>C | CA360739957 | FBN2 | n.2530C>G n.2449C>G c.5746C>G (p.Gln1916Glu) c.5743C>G (p.Gln1915Glu) c.5593C>G (p.Gln1865Glu) | |
5 | g.128305011G>T | CA360739954 | FBN2 | n.2530C>A n.2449C>A c.5746C>A (p.Gln1916Lys) c.5743C>A (p.Gln1915Lys) c.5593C>A (p.Gln1865Lys) | |
5 | g.128305012G>A | CA446306373 | FBN2 | n.2529C>T n.2448C>T c.5745C>T (p.Tyr1915=) c.5742C>T (p.Tyr1914=) c.5592C>T (p.Tyr1864=) | ClinVar COSMIC COSMIC |
5 | g.128305012G>C | CA360739959 | FBN2 | n.2529C>G n.2448C>G c.5745C>G (p.Tyr1915Ter) c.5742C>G (p.Tyr1914Ter) c.5592C>G (p.Tyr1864Ter) | |
5 | g.128305012G>T | CA360739960 | FBN2 | n.2529C>A n.2448C>A c.5745C>A (p.Tyr1915Ter) c.5742C>A (p.Tyr1914Ter) c.5592C>A (p.Tyr1864Ter) | |
5 | g.128305013T>A | CA126983124 | FBN2 | n.2528A>T n.2447A>T c.5744A>T (p.Tyr1915Phe) c.5741A>T (p.Tyr1914Phe) c.5591A>T (p.Tyr1864Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.128305013T>C | CA360739961 | FBN2 | n.2528A>G n.2447A>G c.5744A>G (p.Tyr1915Cys) c.5741A>G (p.Tyr1914Cys) c.5591A>G (p.Tyr1864Cys) | |
5 | g.128305013T>G | CA360739962 | FBN2 | n.2528A>C n.2447A>C c.5744A>C (p.Tyr1915Ser) c.5741A>C (p.Tyr1914Ser) c.5591A>C (p.Tyr1864Ser) | |
5 | g.128305013T= | CA1581255399 | FBN2 | n.2528A= n.2447A= c.5744A= (p.Tyr1915=) c.5741A= (p.Tyr1914=) c.5591A= (p.Tyr1864=) | |
5 | g.128305014A>C | CA360739963 | FBN2 | n.2527T>G n.2446T>G c.5743T>G (p.Tyr1915Asp) c.5740T>G (p.Tyr1914Asp) c.5590T>G (p.Tyr1864Asp) | |
5 | g.128305014A>G | CA360739964 | FBN2 | n.2527T>C n.2446T>C c.5743T>C (p.Tyr1915His) c.5740T>C (p.Tyr1914His) c.5590T>C (p.Tyr1864His) | |
5 | g.128305014A>T | CA360739965 | FBN2 | n.2527T>A n.2446T>A c.5743T>A (p.Tyr1915Asn) c.5740T>A (p.Tyr1914Asn) c.5590T>A (p.Tyr1864Asn) | |
5 | g.128305015A>C | CA360739966 | FBN2 | n.2526T>G n.2445T>G c.5742T>G (p.Ser1914Arg) c.5739T>G (p.Ser1913Arg) c.5589T>G (p.Ser1863Arg) | |
5 | g.128305015A>G | CA446306374 | FBN2 | n.2526T>C n.2445T>C c.5742T>C (p.Ser1914=) c.5739T>C (p.Ser1913=) c.5589T>C (p.Ser1863=) | |
5 | g.128305015A>T | CA360739967 | FBN2 | n.2526T>A n.2445T>A c.5742T>A (p.Ser1914Arg) c.5739T>A (p.Ser1913Arg) c.5589T>A (p.Ser1863Arg) | |
5 | g.128305016C>A | CA360739968 | FBN2 | n.2525G>T n.2444G>T c.5741G>T (p.Ser1914Ile) c.5738G>T (p.Ser1913Ile) c.5588G>T (p.Ser1863Ile) | |
5 | g.128305016C= | CA1581255400 | FBN2 | n.2525G= n.2444G= c.5741G= (p.Ser1914=) c.5738G= (p.Ser1913=) c.5588G= (p.Ser1863=) | |
5 | g.128305016C>G | CA360739969 | FBN2 | n.2525G>C n.2444G>C c.5741G>C (p.Ser1914Thr) c.5738G>C (p.Ser1913Thr) c.5588G>C (p.Ser1863Thr) | |
5 | g.128305016C>T | CA360739970 | FBN2 | n.2525G>A n.2444G>A c.5741G>A (p.Ser1914Asn) c.5738G>A (p.Ser1913Asn) c.5588G>A (p.Ser1863Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.128305017T>A | CA360739972 | FBN2 | n.2524A>T n.2443A>T c.5740A>T (p.Ser1914Cys) c.5737A>T (p.Ser1913Cys) c.5587A>T (p.Ser1863Cys) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128305017T>C | CA360739973 | FBN2 | n.2524A>G n.2443A>G c.5740A>G (p.Ser1914Gly) c.5737A>G (p.Ser1913Gly) c.5587A>G (p.Ser1863Gly) | |
5 | g.128305017T>G | CA360739971 | FBN2 | n.2524A>C n.2443A>C c.5740A>C (p.Ser1914Arg) c.5737A>C (p.Ser1913Arg) c.5587A>C (p.Ser1863Arg) | |
5 | g.128305018T>A | CA446306375 | FBN2 | n.2523A>T n.2442A>T c.5739A>T (p.Gly1913=) c.5736A>T (p.Gly1912=) c.5586A>T (p.Gly1862=) | |
5 | g.128305018T>C | CA446306377 | FBN2 | n.2523A>G n.2442A>G c.5739A>G (p.Gly1913=) c.5736A>G (p.Gly1912=) c.5586A>G (p.Gly1862=) | |
5 | g.128305018T>G | CA446306376 | FBN2 | n.2523A>C n.2442A>C c.5739A>C (p.Gly1913=) c.5736A>C (p.Gly1912=) c.5586A>C (p.Gly1862=) | |
5 | g.128305019C>A | CA360739974 | FBN2 | n.2522G>T n.2441G>T c.5738G>T (p.Gly1913Val) c.5735G>T (p.Gly1912Val) c.5585G>T (p.Gly1862Val) | |
5 | g.128305019C>G | CA360739976 | FBN2 | n.2522G>C n.2441G>C c.5738G>C (p.Gly1913Ala) c.5735G>C (p.Gly1912Ala) c.5585G>C (p.Gly1862Ala) | |
5 | g.128305019C>T | CA360739975 | FBN2 | n.2522G>A n.2441G>A c.5738G>A (p.Gly1913Glu) c.5735G>A (p.Gly1912Glu) c.5585G>A (p.Gly1862Glu) | gnomAD v4 |
5 | g.128305020C>A | CA360739977 | FBN2 | n.2521G>T n.2440G>T c.5737G>T (p.Gly1913Ter) c.5734G>T (p.Gly1912Ter) c.5584G>T (p.Gly1862Ter) | |
5 | g.128305020C>G | CA360739978 | FBN2 | n.2521G>C n.2440G>C c.5737G>C (p.Gly1913Arg) c.5734G>C (p.Gly1912Arg) c.5584G>C (p.Gly1862Arg) | |
5 | g.128305020C>T | CA360739979 | FBN2 | n.2521G>A n.2440G>A c.5737G>A (p.Gly1913Arg) c.5734G>A (p.Gly1912Arg) c.5584G>A (p.Gly1862Arg) | |
5 | g.128305021T>A | CA360739980 | FBN2 | n.2520A>T n.2439A>T c.5736A>T (p.Gln1912His) c.5733A>T (p.Gln1911His) c.5583A>T (p.Gln1861His) | |
5 | g.128305021T>C | CA3394605 | FBN2 | n.2520A>G n.2439A>G c.5736A>G (p.Gln1912=) c.5733A>G (p.Gln1911=) c.5583A>G (p.Gln1861=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128305021T>G | CA360739981 | FBN2 | n.2520A>C n.2439A>C c.5736A>C (p.Gln1912His) c.5733A>C (p.Gln1911His) c.5583A>C (p.Gln1861His) | |
5 | g.128305021T= | CA1581255401 | FBN2 | n.2520A= n.2439A= c.5736A= (p.Gln1912=) c.5733A= (p.Gln1911=) c.5583A= (p.Gln1861=) | |
5 | g.128305022T>A | CA360739982 | FBN2 | n.2519A>T n.2438A>T c.5735A>T (p.Gln1912Leu) c.5732A>T (p.Gln1911Leu) c.5582A>T (p.Gln1861Leu) | |
5 | g.128305022T>C | CA360739983 | FBN2 | n.2519A>G n.2438A>G c.5735A>G (p.Gln1912Arg) c.5732A>G (p.Gln1911Arg) c.5582A>G (p.Gln1861Arg) | |
5 | g.128305022T>G | CA360739984 | FBN2 | n.2519A>C n.2438A>C c.5735A>C (p.Gln1912Pro) c.5732A>C (p.Gln1911Pro) c.5582A>C (p.Gln1861Pro) | |
5 | g.128305023G>A | CA360739985 | FBN2 | n.2518C>T n.2437C>T c.5734C>T (p.Gln1912Ter) c.5731C>T (p.Gln1911Ter) c.5581C>T (p.Gln1861Ter) | |
5 | g.128305023G>C | CA360739986 | FBN2 | n.2518C>G n.2437C>G c.5734C>G (p.Gln1912Glu) c.5731C>G (p.Gln1911Glu) c.5581C>G (p.Gln1861Glu) | |
5 | g.128305023G>T | CA360739987 | FBN2 | n.2518C>A n.2437C>A c.5734C>A (p.Gln1912Lys) c.5731C>A (p.Gln1911Lys) c.5581C>A (p.Gln1861Lys) | |
5 | g.128305024C>A | CA446306378 | FBN2 | n.2517G>T n.2436G>T c.5733G>T (p.Leu1911=) c.5730G>T (p.Leu1910=) c.5580G>T (p.Leu1860=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128305024C= | CA1581255402 | FBN2 | n.2517G= n.2436G= c.5733G= (p.Leu1911=) c.5730G= (p.Leu1910=) c.5580G= (p.Leu1860=) | |
5 | g.128305024C>G | CA446306379 | FBN2 | n.2517G>C n.2436G>C c.5733G>C (p.Leu1911=) c.5730G>C (p.Leu1910=) c.5580G>C (p.Leu1860=) | |
5 | g.128305024C>T | CA446306380 | FBN2 | n.2517G>A n.2436G>A c.5733G>A (p.Leu1911=) c.5730G>A (p.Leu1910=) c.5580G>A (p.Leu1860=) | gnomAD v4 |
5 | g.128305025A>C | CA360739990 | FBN2 | n.2516T>G n.2435T>G c.5732T>G (p.Leu1911Arg) c.5729T>G (p.Leu1910Arg) c.5579T>G (p.Leu1860Arg) | |
5 | g.128305025A>G | CA360739988 | FBN2 | n.2516T>C n.2435T>C c.5732T>C (p.Leu1911Pro) c.5729T>C (p.Leu1910Pro) c.5579T>C (p.Leu1860Pro) | |
5 | g.128305025A>T | CA360739989 | FBN2 | n.2516T>A n.2435T>A c.5732T>A (p.Leu1911Gln) c.5729T>A (p.Leu1910Gln) c.5579T>A (p.Leu1860Gln) | |
5 | g.128305026G>A | CA3394606 | FBN2 | n.2515C>T n.2434C>T c.5731C>T (p.Leu1911=) c.5728C>T (p.Leu1910=) c.5578C>T (p.Leu1860=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128305026G>C | CA360739991 | FBN2 | n.2515C>G n.2434C>G c.5731C>G (p.Leu1911Val) c.5728C>G (p.Leu1910Val) c.5578C>G (p.Leu1860Val) | |
5 | g.128305026G= | CA1581255403 | FBN2 | n.2515C= n.2434C= c.5731C= (p.Leu1911=) c.5728C= (p.Leu1910=) c.5578C= (p.Leu1860=) | |
5 | g.128305026G>T | CA360739992 | FBN2 | n.2515C>A n.2434C>A c.5731C>A (p.Leu1911Met) c.5728C>A (p.Leu1910Met) c.5578C>A (p.Leu1860Met) | |
5 | g.128305027A>C | CA360739993 | FBN2 | n.2514T>G n.2433T>G c.5730T>G (p.Asp1910Glu) c.5727T>G (p.Asp1909Glu) c.5577T>G (p.Asp1859Glu) | |
5 | g.128305027A>G | CA446306381 | FBN2 | n.2514T>C n.2433T>C c.5730T>C (p.Asp1910=) c.5727T>C (p.Asp1909=) c.5577T>C (p.Asp1859=) | |
5 | g.128305027A>T | CA360739994 | FBN2 | n.2514T>A n.2433T>A c.5730T>A (p.Asp1910Glu) c.5727T>A (p.Asp1909Glu) c.5577T>A (p.Asp1859Glu) | |
5 | g.128305028T>A | CA3394608 | FBN2 | n.2513A>T n.2432A>T c.5729A>T (p.Asp1910Val) c.5726A>T (p.Asp1909Val) c.5576A>T (p.Asp1859Val) | dbSNP ExAC gnomAD v2 |
5 | g.128305028T>C | CA3394607 | FBN2 | n.2513A>G n.2432A>G c.5729A>G (p.Asp1910Gly) c.5726A>G (p.Asp1909Gly) c.5576A>G (p.Asp1859Gly) | dbSNP ExAC gnomAD v2 |
5 | g.128305028T>G | CA360739995 | FBN2 | n.2513A>C n.2432A>C c.5729A>C (p.Asp1910Ala) c.5726A>C (p.Asp1909Ala) c.5576A>C (p.Asp1859Ala) | |
5 | g.128305028T= | CA1581255404 | FBN2 | n.2513A= n.2432A= c.5729A= (p.Asp1910=) c.5726A= (p.Asp1909=) c.5576A= (p.Asp1859=) | |
5 | g.128305029C>A | CA3394609 | FBN2 | n.2512G>T n.2431G>T c.5728G>T (p.Asp1910Tyr) c.5725G>T (p.Asp1909Tyr) c.5575G>T (p.Asp1859Tyr) | dbSNP ExAC |
5 | g.128305029C= | CA1581255405 | FBN2 | n.2512G= n.2431G= c.5728G= (p.Asp1910=) c.5725G= (p.Asp1909=) c.5575G= (p.Asp1859=) | |
5 | g.128305029C>G | CA360739996 | FBN2 | n.2512G>C n.2431G>C c.5728G>C (p.Asp1910His) c.5725G>C (p.Asp1909His) c.5575G>C (p.Asp1859His) | |
5 | g.128305029C>T | CA360739997 | FBN2 | n.2512G>A n.2431G>A c.5728G>A (p.Asp1910Asn) c.5725G>A (p.Asp1909Asn) c.5575G>A (p.Asp1859Asn) | |
5 | g.128305030A>C | CA446306382 | FBN2 | n.2511T>G n.2430T>G c.5727T>G (p.Val1909=) c.5724T>G (p.Val1908=) c.5574T>G (p.Val1858=) | |
5 | g.128305030A>G | CA446306383 | FBN2 | n.2511T>C n.2430T>C c.5727T>C (p.Val1909=) c.5724T>C (p.Val1908=) c.5574T>C (p.Val1858=) | gnomAD v4 |
5 | g.128305030A>T | CA446306384 | FBN2 | n.2511T>A n.2430T>A c.5727T>A (p.Val1909=) c.5724T>A (p.Val1908=) c.5574T>A (p.Val1858=) | |
5 | g.128305031A= | CA1581255407 | FBN2 | n.2510T= n.2429T= c.5726T= (p.Val1909=) c.5723T= (p.Val1908=) c.5573T= (p.Val1858=) | |
5 | g.128305031A>C | CA360739999 | FBN2 | n.2510T>G n.2429T>G c.5726T>G (p.Val1909Gly) c.5723T>G (p.Val1908Gly) c.5573T>G (p.Val1858Gly) | |
5 | g.128305031A>G | CA360739998 | FBN2 | n.2510T>C n.2429T>C c.5726T>C (p.Val1909Ala) c.5723T>C (p.Val1908Ala) c.5573T>C (p.Val1858Ala) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128305031A>T | CA3394610 | FBN2 | n.2510T>A n.2429T>A c.5726T>A (p.Val1909Asp) c.5723T>A (p.Val1908Asp) c.5573T>A (p.Val1858Asp) | dbSNP ExAC |
5 | g.128305031_128305036delinsACACAC | CA1581255406 | FBN2 | n.2505_2510delinsGTGTGT n.2424_2429delinsGTGTGT c.5721_5726delinsGTGTGT (p.Leu1907=) c.5718_5723delinsGTGTGT (p.Leu1906=) c.5568_5573delinsGTGTGT (p.Leu1856=) | |
5 | g.128305032C>A | CA360740000 | FBN2 | n.2509G>T n.2428G>T c.5725G>T (p.Val1909Phe) c.5722G>T (p.Val1908Phe) c.5572G>T (p.Val1858Phe) | |
5 | g.128305032C>G | CA360740001 | FBN2 | n.2509G>C n.2428G>C c.5725G>C (p.Val1909Leu) c.5722G>C (p.Val1908Leu) c.5572G>C (p.Val1858Leu) | |
5 | g.128305032C>T | CA360740002 | FBN2 | n.2509G>A n.2428G>A c.5725G>A (p.Val1909Ile) c.5722G>A (p.Val1908Ile) c.5572G>A (p.Val1858Ile) | |
5 | g.128305032_128305036del | CA446306385 | FBN2 | n.2505_2509del n.2424_2428del c.5721_5725del (p.Leu1907PhefsTer2) c.5718_5722del (p.Leu1906PhefsTer2) c.5568_5572del (p.Leu1856PhefsTer2) | dbSNP |
5 | g.128305033A= | CA1581255408 | FBN2 | n.2508T= n.2427T= c.5724T= (p.Cys1908=) c.5721T= (p.Cys1907=) c.5571T= (p.Cys1857=) | |
5 | g.128305033A>C | CA3394611 | FBN2 | n.2508T>G n.2427T>G c.5724T>G (p.Cys1908Trp) c.5721T>G (p.Cys1907Trp) c.5571T>G (p.Cys1857Trp) | dbSNP ExAC gnomAD v2 |
5 | g.128305033A>G | CA446306386 | FBN2 | n.2508T>C n.2427T>C c.5724T>C (p.Cys1908=) c.5721T>C (p.Cys1907=) c.5571T>C (p.Cys1857=) | |
5 | g.128305033A>T | CA360740003 | FBN2 | n.2508T>A n.2427T>A c.5724T>A (p.Cys1908Ter) c.5721T>A (p.Cys1907Ter) c.5571T>A (p.Cys1857Ter) | |
5 | g.128305034_128305038del | CA360740004 | FBN2 | n.2504_2508del n.2423_2427del c.5720_5724del (p.Leu1907CysfsTer2) c.5717_5721del (p.Leu1906CysfsTer2) c.5567_5571del (p.Leu1856CysfsTer2) | |
5 | g.128305034C>A | CA3394612 | FBN2 | n.2507G>T n.2426G>T c.5723G>T (p.Cys1908Phe) c.5720G>T (p.Cys1907Phe) c.5570G>T (p.Cys1857Phe) | dbSNP ExAC gnomAD v4 |
5 | g.128305034C= | CA1581255409 | FBN2 | n.2507G= n.2426G= c.5723G= (p.Cys1908=) c.5720G= (p.Cys1907=) c.5570G= (p.Cys1857=) | |
5 | g.128305034C>G | CA360740005 | FBN2 | n.2507G>C n.2426G>C c.5723G>C (p.Cys1908Ser) c.5720G>C (p.Cys1907Ser) c.5570G>C (p.Cys1857Ser) | |
5 | g.128305034C>T | CA360740006 | FBN2 | n.2507G>A n.2426G>A c.5723G>A (p.Cys1908Tyr) c.5720G>A (p.Cys1907Tyr) c.5570G>A (p.Cys1857Tyr) | |
5 | g.128305035A>C | CA360740007 | FBN2 | n.2506T>G n.2425T>G c.5722T>G (p.Cys1908Gly) c.5719T>G (p.Cys1907Gly) c.5569T>G (p.Cys1857Gly) | |
5 | g.128305035A>G | CA360740008 | FBN2 | n.2506T>C n.2425T>C c.5722T>C (p.Cys1908Arg) c.5719T>C (p.Cys1907Arg) c.5569T>C (p.Cys1857Arg) | dbSNP |
5 | g.128305035A>T | CA360740009 | FBN2 | n.2506T>A n.2425T>A c.5722T>A (p.Cys1908Ser) c.5719T>A (p.Cys1907Ser) c.5569T>A (p.Cys1857Ser) | |
5 | g.128305036C>A | CA3394613 | FBN2 | n.2505G>T n.2424G>T c.5721G>T (p.Leu1907Phe) c.5718G>T (p.Leu1906Phe) c.5568G>T (p.Leu1856Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128305036C= | CA1581255410 | FBN2 | n.2505G= n.2424G= c.5721G= (p.Leu1907=) c.5718G= (p.Leu1906=) c.5568G= (p.Leu1856=) | |
5 | g.128305036C>G | CA360740010 | FBN2 | n.2505G>C n.2424G>C c.5721G>C (p.Leu1907Phe) c.5718G>C (p.Leu1906Phe) c.5568G>C (p.Leu1856Phe) | |
5 | g.128305036C>T | CA446306387 | FBN2 | n.2505G>A n.2424G>A c.5721G>A (p.Leu1907=) c.5718G>A (p.Leu1906=) c.5568G>A (p.Leu1856=) | gnomAD v4 |
5 | g.128305037A>C | CA360740011 | FBN2 | n.2504T>G n.2423T>G c.5720T>G (p.Leu1907Trp) c.5717T>G (p.Leu1906Trp) c.5567T>G (p.Leu1856Trp) | |
5 | g.128305037A>G | CA360740013 | FBN2 | n.2504T>C n.2423T>C c.5720T>C (p.Leu1907Ser) c.5717T>C (p.Leu1906Ser) c.5567T>C (p.Leu1856Ser) | |
5 | g.128305037A>T | CA360740012 | FBN2 | n.2504T>A n.2423T>A c.5720T>A (p.Leu1907Ter) c.5717T>A (p.Leu1906Ter) c.5567T>A (p.Leu1856Ter) | |
5 | g.128305038A>C | CA360740014 | FBN2 | n.2503T>G n.2422T>G c.5719T>G (p.Leu1907Val) c.5716T>G (p.Leu1906Val) c.5566T>G (p.Leu1856Val) | |
5 | g.128305038A>G | CA446306388 | FBN2 | n.2503T>C n.2422T>C c.5719T>C (p.Leu1907=) c.5716T>C (p.Leu1906=) c.5566T>C (p.Leu1856=) | |
5 | g.128305038A>T | CA360740015 | FBN2 | n.2503T>A n.2422T>A c.5719T>A (p.Leu1907Met) c.5716T>A (p.Leu1906Met) c.5566T>A (p.Leu1856Met) | |
5 | g.128305039G>A | CA446306389 | FBN2 | n.2502C>T n.2421C>T c.5718C>T (p.Gly1906=) c.5715C>T (p.Gly1905=) c.5565C>T (p.Gly1855=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.128305039G>C | CA446306390 | FBN2 | n.2502C>G n.2421C>G c.5718C>G (p.Gly1906=) c.5715C>G (p.Gly1905=) c.5565C>G (p.Gly1855=) | |
5 | g.128305039G= | CA1581255411 | FBN2 | n.2502C= n.2421C= c.5718C= (p.Gly1906=) c.5715C= (p.Gly1905=) c.5565C= (p.Gly1855=) | |
5 | g.128305039G>T | CA446306391 | FBN2 | n.2502C>A n.2421C>A c.5718C>A (p.Gly1906=) c.5715C>A (p.Gly1905=) c.5565C>A (p.Gly1855=) | |
5 | g.128305040C>A | CA360740016 | FBN2 | n.2501G>T n.2420G>T c.5717G>T (p.Gly1906Val) c.5714G>T (p.Gly1905Val) c.5564G>T (p.Gly1855Val) | |
5 | g.128305040C= | CA1581255412 | FBN2 | n.2501G= n.2420G= c.5717G= (p.Gly1906=) c.5714G= (p.Gly1905=) c.5564G= (p.Gly1855=) | |
5 | g.128305040C>G | CA3394614 | FBN2 | n.2501G>C n.2420G>C c.5717G>C (p.Gly1906Ala) c.5714G>C (p.Gly1905Ala) c.5564G>C (p.Gly1855Ala) | dbSNP ExAC gnomAD v2 |
5 | g.128305040C>T | CA360740017 | FBN2 | n.2501G>A n.2420G>A c.5717G>A (p.Gly1906Asp) c.5714G>A (p.Gly1905Asp) c.5564G>A (p.Gly1855Asp) | gnomAD v4 |
5 | g.128305041C>A | CA360740018 | FBN2 | n.2500G>T n.2419G>T c.5716G>T (p.Gly1906Cys) c.5713G>T (p.Gly1905Cys) c.5563G>T (p.Gly1855Cys) | |
5 | g.128305041C>G | CA360740019 | FBN2 | n.2500G>C n.2419G>C c.5716G>C (p.Gly1906Arg) c.5713G>C (p.Gly1905Arg) c.5563G>C (p.Gly1855Arg) | |
5 | g.128305041C>T | CA360740020 | FBN2 | n.2500G>A n.2419G>A c.5716G>A (p.Gly1906Ser) c.5713G>A (p.Gly1905Ser) c.5563G>A (p.Gly1855Ser) | gnomAD v4 |
5 | g.128305042A>C | CA360740021 | FBN2 | n.2499T>G n.2418T>G c.5715T>G (p.His1905Gln) c.5712T>G (p.His1904Gln) c.5562T>G (p.His1854Gln) | |
5 | g.128305042A>G | CA446306392 | FBN2 | n.2499T>C n.2418T>C c.5715T>C (p.His1905=) c.5712T>C (p.His1904=) c.5562T>C (p.His1854=) | |
5 | g.128305042A>T | CA360740022 | FBN2 | n.2499T>A n.2418T>A c.5715T>A (p.His1905Gln) c.5712T>A (p.His1904Gln) c.5562T>A (p.His1854Gln) | |
5 | g.128305043T>A | CA360740023 | FBN2 | n.2498A>T n.2417A>T c.5714A>T (p.His1905Leu) c.5711A>T (p.His1904Leu) c.5561A>T (p.His1854Leu) | dbSNP gnomAD v4 |
5 | g.128305043T>C | CA126983236 | FBN2 | n.2498A>G n.2417A>G c.5714A>G (p.His1905Arg) c.5711A>G (p.His1904Arg) c.5561A>G (p.His1854Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128305043T>G | CA360740024 | FBN2 | n.2498A>C n.2417A>C c.5714A>C (p.His1905Pro) c.5711A>C (p.His1904Pro) c.5561A>C (p.His1854Pro) | |
5 | g.128305043T= | CA1581255413 | FBN2 | n.2498A= n.2417A= c.5714A= (p.His1905=) c.5711A= (p.His1904=) c.5561A= (p.His1854=) | |
5 | g.128305044G>A | CA360740025 | FBN2 | n.2497C>T n.2416C>T c.5713C>T (p.His1905Tyr) c.5710C>T (p.His1904Tyr) c.5560C>T (p.His1854Tyr) | |
5 | g.128305044G>C | CA360740027 | FBN2 | n.2497C>G n.2416C>G c.5713C>G (p.His1905Asp) c.5710C>G (p.His1904Asp) c.5560C>G (p.His1854Asp) | |
5 | g.128305044G>T | CA360740026 | FBN2 | n.2497C>A n.2416C>A c.5713C>A (p.His1905Asn) c.5710C>A (p.His1904Asn) c.5560C>A (p.His1854Asn) | |
5 | g.128305045A>C | CA360740028 | FBN2 | n.2496T>G n.2415T>G c.5712T>G (p.Ser1904Arg) c.5709T>G (p.Ser1903Arg) c.5559T>G (p.Ser1853Arg) | |
5 | g.128305045A>G | CA446306393 | FBN2 | n.2496T>C n.2415T>C c.5712T>C (p.Ser1904=) c.5709T>C (p.Ser1903=) c.5559T>C (p.Ser1853=) | |
5 | g.128305045A>T | CA360740029 | FBN2 | n.2496T>A n.2415T>A c.5712T>A (p.Ser1904Arg) c.5709T>A (p.Ser1903Arg) c.5559T>A (p.Ser1853Arg) | gnomAD v4 |
5 | g.128305046C>A | CA360740030 | FBN2 | n.2495G>T n.2414G>T c.5711G>T (p.Ser1904Ile) c.5708G>T (p.Ser1903Ile) c.5558G>T (p.Ser1853Ile) | |
5 | g.128305046C= | CA1581255414 | FBN2 | n.2495G= n.2414G= c.5711G= (p.Ser1904=) c.5708G= (p.Ser1903=) c.5558G= (p.Ser1853=) | |
5 | g.128305046C>G | CA360740031 | FBN2 | n.2495G>C n.2414G>C c.5711G>C (p.Ser1904Thr) c.5708G>C (p.Ser1903Thr) c.5558G>C (p.Ser1853Thr) | |
5 | g.128305046C>T | CA360740032 | FBN2 | n.2495G>A n.2414G>A c.5711G>A (p.Ser1904Asn) c.5708G>A (p.Ser1903Asn) c.5558G>A (p.Ser1853Asn) | dbSNP |
5 | g.128305047T>A | CA360740033 | FBN2 | n.2494A>T n.2413A>T c.5710A>T (p.Ser1904Cys) c.5707A>T (p.Ser1903Cys) c.5557A>T (p.Ser1853Cys) | |
5 | g.128305047T>C | CA360740034 | FBN2 | n.2494A>G n.2413A>G c.5710A>G (p.Ser1904Gly) c.5707A>G (p.Ser1903Gly) c.5557A>G (p.Ser1853Gly) | |
5 | g.128305047T>G | CA360740035 | FBN2 | n.2494A>C n.2413A>C c.5710A>C (p.Ser1904Arg) c.5707A>C (p.Ser1903Arg) c.5557A>C (p.Ser1853Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.128305047T= | CA1581255415 | FBN2 | n.2494A= n.2413A= c.5710A= (p.Ser1904=) c.5707A= (p.Ser1903=) c.5557A= (p.Ser1853=) | |
5 | g.128305048G>A | CA446306394 | FBN2 | n.2493C>T n.2412C>T c.5709C>T (p.Cys1903=) c.5706C>T (p.Cys1902=) c.5556C>T (p.Cys1852=) | dbSNP |
5 | g.128305048G>C | CA360740036 | FBN2 | n.2493C>G n.2412C>G c.5709C>G (p.Cys1903Trp) c.5706C>G (p.Cys1902Trp) c.5556C>G (p.Cys1852Trp) | |
5 | g.128305048G= | CA1581255416 | FBN2 | n.2493C= n.2412C= c.5709C= (p.Cys1903=) c.5706C= (p.Cys1902=) c.5556C= (p.Cys1852=) | |
5 | g.128305048G>T | CA360740037 | FBN2 | n.2493C>A n.2412C>A c.5709C>A (p.Cys1903Ter) c.5706C>A (p.Cys1902Ter) c.5556C>A (p.Cys1852Ter) | |
5 | g.128305049C>A | CA360740038 | FBN2 | n.2492G>T n.2411G>T c.5708G>T (p.Cys1903Phe) c.5705G>T (p.Cys1902Phe) c.5555G>T (p.Cys1852Phe) | |
5 | g.128305049C>G | CA360740039 | FBN2 | n.2492G>C n.2411G>C c.5708G>C (p.Cys1903Ser) c.5705G>C (p.Cys1902Ser) c.5555G>C (p.Cys1852Ser) | |
5 | g.128305049C>T | CA360740040 | FBN2 | n.2492G>A n.2411G>A c.5708G>A (p.Cys1903Tyr) c.5705G>A (p.Cys1902Tyr) c.5555G>A (p.Cys1852Tyr) | COSMIC |
5 | g.128305050A>C | CA360740043 | FBN2 | n.2491T>G n.2410T>G c.5707T>G (p.Cys1903Gly) c.5704T>G (p.Cys1902Gly) c.5554T>G (p.Cys1852Gly) | |
5 | g.128305050A>G | CA360740041 | FBN2 | n.2491T>C n.2410T>C c.5707T>C (p.Cys1903Arg) c.5704T>C (p.Cys1902Arg) c.5554T>C (p.Cys1852Arg) | |
5 | g.128305050A>T | CA360740042 | FBN2 | n.2491T>A n.2410T>A c.5707T>A (p.Cys1903Ser) c.5704T>A (p.Cys1902Ser) c.5554T>A (p.Cys1852Ser) | |
5 | g.128305051A>C | CA446306398 | FBN2 | n.2490T>G n.2409T>G c.5706T>G (p.Val1902=) c.5703T>G (p.Val1901=) c.5553T>G (p.Val1851=) | |
5 | g.128305051A>G | CA446306399 | FBN2 | n.2490T>C n.2409T>C c.5706T>C (p.Val1902=) c.5703T>C (p.Val1901=) c.5553T>C (p.Val1851=) | |
5 | g.128305051A>T | CA446306400 | FBN2 | n.2490T>A n.2409T>A c.5706T>A (p.Val1902=) c.5703T>A (p.Val1901=) c.5553T>A (p.Val1851=) | |
5 | g.128305052A>C | CA360740044 | FBN2 | n.2489T>G n.2408T>G c.5705T>G (p.Val1902Gly) c.5702T>G (p.Val1901Gly) c.5552T>G (p.Val1851Gly) | |
5 | g.128305052A>G | CA360740045 | FBN2 | n.2489T>C n.2408T>C c.5705T>C (p.Val1902Ala) c.5702T>C (p.Val1901Ala) c.5552T>C (p.Val1851Ala) | |
5 | g.128305052A>T | CA360740046 | FBN2 | n.2489T>A n.2408T>A c.5705T>A (p.Val1902Asp) c.5702T>A (p.Val1901Asp) c.5552T>A (p.Val1851Asp) | |
5 | g.128305053C>A | CA360740047 | FBN2 | n.2488G>T n.2407G>T c.5704G>T (p.Val1902Phe) c.5701G>T (p.Val1901Phe) c.5551G>T (p.Val1851Phe) | ClinVar |
5 | g.128305053C= | CA1581255417 | FBN2 | n.2488G= n.2407G= c.5704G= (p.Val1902=) c.5701G= (p.Val1901=) c.5551G= (p.Val1851=) | |
5 | g.128305053C>G | CA360740048 | FBN2 | n.2488G>C n.2407G>C c.5704G>C (p.Val1902Leu) c.5701G>C (p.Val1901Leu) c.5551G>C (p.Val1851Leu) | |
5 | g.128305053C>T | CA3394615 | FBN2 | n.2488G>A n.2407G>A c.5704G>A (p.Val1902Ile) c.5701G>A (p.Val1901Ile) c.5551G>A (p.Val1851Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.128305054G>A | CA3394616 | FBN2 | n.2487C>T n.2406C>T c.5703C>T (p.Asn1901=) c.5700C>T (p.Asn1900=) c.5550C>T (p.Asn1850=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128305054G>C | CA360740049 | FBN2 | n.2487C>G n.2406C>G c.5703C>G (p.Asn1901Lys) c.5700C>G (p.Asn1900Lys) c.5550C>G (p.Asn1850Lys) | |
5 | g.128305054G= | CA1581255418 | FBN2 | n.2487C= n.2406C= c.5703C= (p.Asn1901=) c.5700C= (p.Asn1900=) c.5550C= (p.Asn1850=) | |
5 | g.128305054G>T | CA360740050 | FBN2 | n.2487C>A n.2406C>A c.5703C>A (p.Asn1901Lys) c.5700C>A (p.Asn1900Lys) c.5550C>A (p.Asn1850Lys) | gnomAD v4 |
5 | g.128305055T>A | CA360740051 | FBN2 | n.2486A>T n.2405A>T c.5702A>T (p.Asn1901Ile) c.5699A>T (p.Asn1900Ile) c.5549A>T (p.Asn1850Ile) | |
5 | g.128305055T>C | CA360740052 | FBN2 | n.2486A>G n.2405A>G c.5702A>G (p.Asn1901Ser) c.5699A>G (p.Asn1900Ser) c.5549A>G (p.Asn1850Ser) | |
5 | g.128305055T>G | CA360740053 | FBN2 | n.2486A>C n.2405A>C c.5702A>C (p.Asn1901Thr) c.5699A>C (p.Asn1900Thr) c.5549A>C (p.Asn1850Thr) | |
5 | g.128305056T>A | CA360740054 | FBN2 | n.2485A>T n.2404A>T c.5701A>T (p.Asn1901Tyr) c.5698A>T (p.Asn1900Tyr) c.5548A>T (p.Asn1850Tyr) | |
5 | g.128305056T>C | CA126983273 | FBN2 | n.2485A>G n.2404A>G c.5701A>G (p.Asn1901Asp) c.5698A>G (p.Asn1900Asp) c.5548A>G (p.Asn1850Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128305056T>G | CA360740055 | FBN2 | n.2485A>C n.2404A>C c.5701A>C (p.Asn1901His) c.5698A>C (p.Asn1900His) c.5548A>C (p.Asn1850His) | |
5 | g.128305056T= | CA1581255419 | FBN2 | n.2485A= n.2404A= c.5701A= (p.Asn1901=) c.5698A= (p.Asn1900=) c.5548A= (p.Asn1850=) | |
5 | g.128305057A= | CA1581255420 | FBN2 | n.2484T= n.2403T= c.5700T= (p.Pro1900=) c.5697T= (p.Pro1899=) c.5547T= (p.Pro1849=) | |
5 | g.128305057A>C | CA446306403 | FBN2 | n.2484T>G n.2403T>G c.5700T>G (p.Pro1900=) c.5697T>G (p.Pro1899=) c.5547T>G (p.Pro1849=) | |
5 | g.128305057A>G | CA126983282 | FBN2 | n.2484T>C n.2403T>C c.5700T>C (p.Pro1900=) c.5697T>C (p.Pro1899=) c.5547T>C (p.Pro1849=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128305057A>T | CA446306405 | FBN2 | n.2484T>A n.2403T>A c.5700T>A (p.Pro1900=) c.5697T>A (p.Pro1899=) c.5547T>A (p.Pro1849=) | |
5 | g.128305058G>A | CA3394617 | FBN2 | n.2483C>T n.2402C>T c.5699C>T (p.Pro1900Leu) c.5696C>T (p.Pro1899Leu) c.5546C>T (p.Pro1849Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128305058G>C | CA360740056 | FBN2 | n.2483C>G n.2402C>G c.5699C>G (p.Pro1900Arg) c.5696C>G (p.Pro1899Arg) c.5546C>G (p.Pro1849Arg) | gnomAD v4 |
5 | g.128305058G= | CA1581255421 | FBN2 | n.2483C= n.2402C= c.5699C= (p.Pro1900=) c.5696C= (p.Pro1899=) c.5546C= (p.Pro1849=) | |
5 | g.128305058G>T | CA360740057 | FBN2 | n.2483C>A n.2402C>A c.5699C>A (p.Pro1900His) c.5696C>A (p.Pro1899His) c.5546C>A (p.Pro1849His) | |
5 | g.128305059G>A | CA360740058 | FBN2 | n.2482C>T n.2401C>T c.5698C>T (p.Pro1900Ser) c.5695C>T (p.Pro1899Ser) c.5545C>T (p.Pro1849Ser) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128305059G>C | CA360740059 | FBN2 | n.2482C>G n.2401C>G c.5698C>G (p.Pro1900Ala) c.5695C>G (p.Pro1899Ala) c.5545C>G (p.Pro1849Ala) | |
5 | g.128305059G= | CA1581255422 | FBN2 | n.2482C= n.2401C= c.5698C= (p.Pro1900=) c.5695C= (p.Pro1899=) c.5545C= (p.Pro1849=) | |
5 | g.128305059G>T | CA360740060 | FBN2 | n.2482C>A n.2401C>A c.5698C>A (p.Pro1900Thr) c.5695C>A (p.Pro1899Thr) c.5545C>A (p.Pro1849Thr) | |
5 | g.128305060A= | CA1581255423 | FBN2 | n.2481T= n.2400T= c.5697T= (p.Ile1899=) c.5694T= (p.Ile1898=) c.5544T= (p.Ile1848=) | |
5 | g.128305060A>C | CA360740061 | FBN2 | n.2481T>G n.2400T>G c.5697T>G (p.Ile1899Met) c.5694T>G (p.Ile1898Met) c.5544T>G (p.Ile1848Met) | |
5 | g.128305060A>G | CA446306408 | FBN2 | n.2481T>C n.2400T>C c.5697T>C (p.Ile1899=) c.5694T>C (p.Ile1898=) c.5544T>C (p.Ile1848=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.128305060A>T | CA446306410 | FBN2 | n.2481T>A n.2400T>A c.5697T>A (p.Ile1899=) c.5694T>A (p.Ile1898=) c.5544T>A (p.Ile1848=) | |
5 | g.128305061A>C | CA360740062 | FBN2 | n.2480T>G n.2399T>G c.5696T>G (p.Ile1899Ser) c.5693T>G (p.Ile1898Ser) c.5543T>G (p.Ile1848Ser) | |
5 | g.128305061A>G | CA360740063 | FBN2 | n.2480T>C n.2399T>C c.5696T>C (p.Ile1899Thr) c.5693T>C (p.Ile1898Thr) c.5543T>C (p.Ile1848Thr) | |
5 | g.128305061A>T | CA360740064 | FBN2 | n.2480T>A n.2399T>A c.5696T>A (p.Ile1899Asn) c.5693T>A (p.Ile1898Asn) c.5543T>A (p.Ile1848Asn) | |
5 | g.128305062T>A | CA360740065 | FBN2 | n.2479A>T n.2398A>T c.5695A>T (p.Ile1899Phe) c.5692A>T (p.Ile1898Phe) c.5542A>T (p.Ile1848Phe) | |
5 | g.128305062T>C | CA360740066 | FBN2 | n.2479A>G n.2398A>G c.5695A>G (p.Ile1899Val) c.5692A>G (p.Ile1898Val) c.5542A>G (p.Ile1848Val) | |
5 | g.128305062T>G | CA360740067 | FBN2 | n.2479A>C n.2398A>C c.5695A>C (p.Ile1899Leu) c.5692A>C (p.Ile1898Leu) c.5542A>C (p.Ile1848Leu) | |
5 | g.128305063T>A | CA360740068 | FBN2 | n.2478A>T n.2397A>T c.5694A>T (p.Glu1898Asp) c.5691A>T (p.Glu1897Asp) c.5541A>T (p.Glu1847Asp) | |
5 | g.128305063T>C | CA446306416 | FBN2 | n.2478A>G n.2397A>G c.5694A>G (p.Glu1898=) c.5691A>G (p.Glu1897=) c.5541A>G (p.Glu1847=) | |
5 | g.128305063T>G | CA360740069 | FBN2 | n.2478A>C n.2397A>C c.5694A>C (p.Glu1898Asp) c.5691A>C (p.Glu1897Asp) c.5541A>C (p.Glu1847Asp) | |
5 | g.128305064T>A | CA360740070 | FBN2 | n.2477A>T n.2396A>T c.5693A>T (p.Glu1898Val) c.5690A>T (p.Glu1897Val) c.5540A>T (p.Glu1847Val) | |
5 | g.128305064T>C | CA360740071 | FBN2 | n.2477A>G n.2396A>G c.5693A>G (p.Glu1898Gly) c.5690A>G (p.Glu1897Gly) c.5540A>G (p.Glu1847Gly) | |
5 | g.128305064T>G | CA360740072 | FBN2 | n.2477A>C n.2396A>C c.5693A>C (p.Glu1898Ala) c.5690A>C (p.Glu1897Ala) c.5540A>C (p.Glu1847Ala) | |
5 | g.128305065C>A | CA360740073 | FBN2 | n.2476G>T n.2395G>T c.5692G>T (p.Glu1898Ter) c.5689G>T (p.Glu1897Ter) c.5539G>T (p.Glu1847Ter) | |
5 | g.128305065C= | CA1581255424 | FBN2 | n.2476G= n.2395G= c.5692G= (p.Glu1898=) c.5689G= (p.Glu1897=) c.5539G= (p.Glu1847=) | |
5 | g.128305065C>G | CA323648 | FBN2 | n.2476G>C n.2395G>C c.5692G>C (p.Glu1898Gln) c.5689G>C (p.Glu1897Gln) c.5539G>C (p.Glu1847Gln) | ClinVar dbSNP COSMIC COSMIC |
5 | g.128305065C>T | CA3394618 | FBN2 | n.2476G>A n.2395G>A c.5692G>A (p.Glu1898Lys) c.5689G>A (p.Glu1897Lys) c.5539G>A (p.Glu1847Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128305066T>A | CA360740074 | FBN2 | n.2475A>T n.2394A>T c.5691A>T (p.Leu1897Phe) c.5688A>T (p.Leu1896Phe) c.5538A>T (p.Leu1846Phe) | |
5 | g.128305066T>C | CA446306421 | FBN2 | n.2475A>G n.2394A>G c.5691A>G (p.Leu1897=) c.5688A>G (p.Leu1896=) c.5538A>G (p.Leu1846=) | |
5 | g.128305066T>G | CA360740075 | FBN2 | n.2475A>C n.2394A>C c.5691A>C (p.Leu1897Phe) c.5688A>C (p.Leu1896Phe) c.5538A>C (p.Leu1846Phe) | |
5 | g.128305067A= | CA1581255425 | FBN2 | n.2474T= n.2393T= c.5690T= (p.Leu1897=) c.5687T= (p.Leu1896=) c.5537T= (p.Leu1846=) | |
5 | g.128305067A>C | CA360740076 | FBN2 | n.2474T>G n.2393T>G c.5690T>G (p.Leu1897Ter) c.5687T>G (p.Leu1896Ter) c.5537T>G (p.Leu1846Ter) | dbSNP |
5 | g.128305067A>G | CA360740077 | FBN2 | n.2474T>C n.2393T>C c.5690T>C (p.Leu1897Ser) c.5687T>C (p.Leu1896Ser) c.5537T>C (p.Leu1846Ser) | ClinVar |
5 | g.128305067A>T | CA360740078 | FBN2 | n.2474T>A n.2393T>A c.5690T>A (p.Leu1897Ter) c.5687T>A (p.Leu1896Ter) c.5537T>A (p.Leu1846Ter) | |
5 | g.128305068A>C | CA360740080 | FBN2 | n.2473T>G n.2392T>G c.5689T>G (p.Leu1897Val) c.5686T>G (p.Leu1896Val) c.5536T>G (p.Leu1846Val) | |
5 | g.128305068A>G | CA446306425 | FBN2 | n.2473T>C n.2392T>C c.5689T>C (p.Leu1897=) c.5686T>C (p.Leu1896=) c.5536T>C (p.Leu1846=) | |
5 | g.128305068A>T | CA360740079 | FBN2 | n.2473T>A n.2392T>A c.5689T>A (p.Leu1897Ile) c.5686T>A (p.Leu1896Ile) c.5536T>A (p.Leu1846Ile) | |
5 | g.128305069A>C | CA360740081 | FBN2 | n.2472T>G n.2391T>G c.5688T>G (p.Cys1896Trp) c.5685T>G (p.Cys1895Trp) c.5535T>G (p.Cys1845Trp) | |
5 | g.128305069A>G | CA446306426 | FBN2 | n.2472T>C n.2391T>C c.5688T>C (p.Cys1896=) c.5685T>C (p.Cys1895=) c.5535T>C (p.Cys1845=) | |
5 | g.128305069A>T | CA360740082 | FBN2 | n.2472T>A n.2391T>A c.5688T>A (p.Cys1896Ter) c.5685T>A (p.Cys1895Ter) c.5535T>A (p.Cys1845Ter) | |
5 | g.128305070C>A | CA360740083 | FBN2 | n.2471G>T n.2390G>T c.5687G>T (p.Cys1896Phe) c.5684G>T (p.Cys1895Phe) c.5534G>T (p.Cys1845Phe) | gnomAD v3 gnomAD v4 |
5 | g.128305070C>G | CA360740084 | FBN2 | n.2471G>C n.2390G>C c.5687G>C (p.Cys1896Ser) c.5684G>C (p.Cys1895Ser) c.5534G>C (p.Cys1845Ser) | |
5 | g.128305070C>T | CA360740085 | FBN2 | n.2471G>A n.2390G>A c.5687G>A (p.Cys1896Tyr) c.5684G>A (p.Cys1895Tyr) c.5534G>A (p.Cys1845Tyr) | |
5 | g.128305071A>C | CA360740086 | FBN2 | n.2470T>G n.2389T>G c.5686T>G (p.Cys1896Gly) c.5683T>G (p.Cys1895Gly) c.5533T>G (p.Cys1845Gly) | |
5 | g.128305071A>G | CA360740087 | FBN2 | n.2470T>C n.2389T>C c.5686T>C (p.Cys1896Arg) c.5683T>C (p.Cys1895Arg) c.5533T>C (p.Cys1845Arg) | |
5 | g.128305071A>T | CA360740088 | FBN2 | n.2470T>A n.2389T>A c.5686T>A (p.Cys1896Ser) c.5683T>A (p.Cys1895Ser) c.5533T>A (p.Cys1845Ser) | |
5 | g.128305072T>A | CA360740089 | FBN2 | n.2469A>T n.2388A>T c.5685A>T (p.Glu1895Asp) c.5682A>T (p.Glu1894Asp) c.5532A>T (p.Glu1844Asp) | |
5 | g.128305072T>C | CA446306494 | FBN2 | n.2469A>G n.2388A>G c.5685A>G (p.Glu1895=) c.5682A>G (p.Glu1894=) c.5532A>G (p.Glu1844=) | |
5 | g.128305072T>G | CA360740090 | FBN2 | n.2469A>C n.2388A>C c.5685A>C (p.Glu1895Asp) c.5682A>C (p.Glu1894Asp) c.5532A>C (p.Glu1844Asp) | |
5 | g.128305073T>A | CA360740091 | FBN2 | n.2468A>T n.2387A>T c.5684A>T (p.Glu1895Val) c.5681A>T (p.Glu1894Val) c.5531A>T (p.Glu1844Val) | |
5 | g.128305073T>C | CA360740092 | FBN2 | n.2468A>G n.2387A>G c.5684A>G (p.Glu1895Gly) c.5681A>G (p.Glu1894Gly) c.5531A>G (p.Glu1844Gly) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128305073T>G | CA360740093 | FBN2 | n.2468A>C n.2387A>C c.5684A>C (p.Glu1895Ala) c.5681A>C (p.Glu1894Ala) c.5531A>C (p.Glu1844Ala) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128305073T= | CA1581255426 | FBN2 | n.2468A= n.2387A= c.5684A= (p.Glu1895=) c.5681A= (p.Glu1894=) c.5531A= (p.Glu1844=) | |
5 | g.128305074C>A | CA360740094 | FBN2 | n.2467G>T n.2386G>T c.5683G>T (p.Glu1895Ter) c.5680G>T (p.Glu1894Ter) c.5530G>T (p.Glu1844Ter) | |
5 | g.128305074C>G | CA360740095 | FBN2 | n.2467G>C n.2386G>C c.5683G>C (p.Glu1895Gln) c.5680G>C (p.Glu1894Gln) c.5530G>C (p.Glu1844Gln) | |
5 | g.128305074C>T | CA360740096 | FBN2 | n.2467G>A n.2386G>A c.5683G>A (p.Glu1895Lys) c.5680G>A (p.Glu1894Lys) c.5530G>A (p.Glu1844Lys) | gnomAD v4 |
5 | g.128305075A= | CA1581255427 | FBN2 | n.2466T= n.2385T= c.5682T= (p.Asn1894=) c.5679T= (p.Asn1893=) c.5529T= (p.Asn1843=) | |
5 | g.128305075A>C | CA360740097 | FBN2 | n.2466T>G n.2385T>G c.5682T>G (p.Asn1894Lys) c.5679T>G (p.Asn1893Lys) c.5529T>G (p.Asn1843Lys) | |
5 | g.128305075A>G | CA126983294 | FBN2 | n.2466T>C n.2385T>C c.5682T>C (p.Asn1894=) c.5679T>C (p.Asn1893=) c.5529T>C (p.Asn1843=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.128305075A>T | CA360740098 | FBN2 | n.2466T>A n.2385T>A c.5682T>A (p.Asn1894Lys) c.5679T>A (p.Asn1893Lys) c.5529T>A (p.Asn1843Lys) | |
5 | g.128305076T>A | CA360740099 | FBN2 | n.2465A>T n.2384A>T c.5681A>T (p.Asn1894Ile) c.5678A>T (p.Asn1893Ile) c.5528A>T (p.Asn1843Ile) | |
5 | g.128305076T>C | CA3394619 | FBN2 | n.2465A>G n.2384A>G c.5681A>G (p.Asn1894Ser) c.5678A>G (p.Asn1893Ser) c.5528A>G (p.Asn1843Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128305076T>G | CA360740100 | FBN2 | n.2465A>C n.2384A>C c.5681A>C (p.Asn1894Thr) c.5678A>C (p.Asn1893Thr) c.5528A>C (p.Asn1843Thr) | |
5 | g.128305076T= | CA1581255428 | FBN2 | n.2465A= n.2384A= c.5681A= (p.Asn1894=) c.5678A= (p.Asn1893=) c.5528A= (p.Asn1843=) | |
5 | g.128305077T>A | CA360740101 | FBN2 | n.2464A>T n.2383A>T c.5680A>T (p.Asn1894Tyr) c.5677A>T (p.Asn1893Tyr) c.5527A>T (p.Asn1843Tyr) | |
5 | g.128305077T>C | CA360740102 | FBN2 | n.2464A>G n.2383A>G c.5680A>G (p.Asn1894Asp) c.5677A>G (p.Asn1893Asp) c.5527A>G (p.Asn1843Asp) | |
5 | g.128305077T>G | CA360740103 | FBN2 | n.2464A>C n.2383A>C c.5680A>C (p.Asn1894His) c.5677A>C (p.Asn1893His) c.5527A>C (p.Asn1843His) | |
5 | g.128305078G>A | CA446306495 | FBN2 | n.2463C>T n.2382C>T c.5679C>T (p.Arg1893=) c.5676C>T (p.Arg1892=) c.5526C>T (p.Arg1842=) | gnomAD v4 |
5 | g.128305078G>C | CA446306496 | FBN2 | n.2463C>G n.2382C>G c.5679C>G (p.Arg1893=) c.5676C>G (p.Arg1892=) c.5526C>G (p.Arg1842=) | |
5 | g.128305078G>T | CA446306497 | FBN2 | n.2463C>A n.2382C>A c.5679C>A (p.Arg1893=) c.5676C>A (p.Arg1892=) c.5526C>A (p.Arg1842=) | gnomAD v4 |
5 | g.128305079C>A | CA360740104 | FBN2 | n.2462G>T n.2381G>T c.5678G>T (p.Arg1893Leu) c.5675G>T (p.Arg1892Leu) c.5525G>T (p.Arg1842Leu) | gnomAD v3 gnomAD v4 |
5 | g.128305079C= | CA1581255429 | FBN2 | n.2462G= n.2381G= c.5678G= (p.Arg1893=) c.5675G= (p.Arg1892=) c.5525G= (p.Arg1842=) | |
5 | g.128305079C>G | CA360740105 | FBN2 | n.2462G>C n.2381G>C c.5678G>C (p.Arg1893Pro) c.5675G>C (p.Arg1892Pro) c.5525G>C (p.Arg1842Pro) | |
5 | g.128305079C>T | CA3394620 | FBN2 | n.2462G>A n.2381G>A c.5678G>A (p.Arg1893His) c.5675G>A (p.Arg1892His) c.5525G>A (p.Arg1842His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128305080G>A | CA360740106 | FBN2 | n.2461C>T n.2380C>T c.5677C>T (p.Arg1893Cys) c.5674C>T (p.Arg1892Cys) c.5524C>T (p.Arg1842Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.128305080G>C | CA360740107 | FBN2 | n.2461C>G n.2380C>G c.5677C>G (p.Arg1893Gly) c.5674C>G (p.Arg1892Gly) c.5524C>G (p.Arg1842Gly) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128305080G= | CA1581255430 | FBN2 | n.2461C= n.2380C= c.5677C= (p.Arg1893=) c.5674C= (p.Arg1892=) c.5524C= (p.Arg1842=) | |
5 | g.128305080G>T | CA360740108 | FBN2 | n.2461C>A n.2380C>A c.5677C>A (p.Arg1893Ser) c.5674C>A (p.Arg1892Ser) c.5524C>A (p.Arg1842Ser) | gnomAD v4 |
5 | g.128305081A>C | CA360740110 | FBN2 | n.2460T>G n.2379T>G c.5676T>G (p.Asp1892Glu) c.5673T>G (p.Asp1891Glu) c.5523T>G (p.Asp1841Glu) | |
5 | g.128305081A>G | CA446306498 | FBN2 | n.2460T>C n.2379T>C c.5676T>C (p.Asp1892=) c.5673T>C (p.Asp1891=) c.5523T>C (p.Asp1841=) | |
5 | g.128305081A>T | CA360740111 | FBN2 | n.2460T>A n.2379T>A c.5676T>A (p.Asp1892Glu) c.5673T>A (p.Asp1891Glu) c.5523T>A (p.Asp1841Glu) | |
5 | g.128305082T>A | CA360740112 | FBN2 | n.2459A>T n.2378A>T c.5675A>T (p.Asp1892Val) c.5672A>T (p.Asp1891Val) c.5522A>T (p.Asp1841Val) | gnomAD v3 gnomAD v4 |
5 | g.128305082T>C | CA360740113 | FBN2 | n.2459A>G n.2378A>G c.5675A>G (p.Asp1892Gly) c.5672A>G (p.Asp1891Gly) c.5522A>G (p.Asp1841Gly) | gnomAD v4 |
5 | g.128305082T>G | CA360740114 | FBN2 | n.2459A>C n.2378A>C c.5675A>C (p.Asp1892Ala) c.5672A>C (p.Asp1891Ala) c.5522A>C (p.Asp1841Ala) | |
5 | g.128305082_128305084del | CA2675114516 | FBN2 | n.2459-2_2459del n.2378-2_2378del c.5675-2_5675del c.5672-2_5672del c.5522-2_5522del | gnomAD v4 |
5 | g.128305083C>A | CA360740115 | FBN2 | n.2459-1G>T n.2378-1G>T c.5675-1G>T (n.5675-1G>T) c.5672-1G>T (n.5672-1G>T) c.5522-1G>T (n.5522-1G>T) | gnomAD v3 gnomAD v4 |
5 | g.128305083C>G | CA360740116 | FBN2 | n.2459-1G>C n.2378-1G>C c.5675-1G>C (n.5675-1G>C) c.5672-1G>C (n.5672-1G>C) c.5522-1G>C (n.5522-1G>C) | |
5 | g.128305083C>T | CA360740117 | FBN2 | n.2459-1G>A n.2378-1G>A c.5675-1G>A (n.5675-1G>A) c.5672-1G>A (n.5672-1G>A) c.5522-1G>A (n.5522-1G>A) | |
5 | g.128305084T>A | CA3394621 | FBN2 | n.2459-2A>T n.2378-2A>T c.5675-2A>T (n.5675-2A>T) c.5672-2A>T (n.5672-2A>T) c.5522-2A>T (n.5522-2A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128305084T>C | CA360740118 | FBN2 | n.2459-2A>G n.2378-2A>G c.5675-2A>G (n.5675-2A>G) c.5672-2A>G (n.5672-2A>G) c.5522-2A>G (n.5522-2A>G) | gnomAD v4 |
5 | g.128305084T>G | CA360740119 | FBN2 | n.2459-2A>C n.2378-2A>C c.5675-2A>C (n.5675-2A>C) c.5672-2A>C (n.5672-2A>C) c.5522-2A>C (n.5522-2A>C) | |
5 | g.128305084T= | CA1581255431 | FBN2 | n.2459-2A= n.2378-2A= c.5675-2A= (n.5675-2A=) c.5672-2A= (n.5672-2A=) c.5522-2A= (n.5522-2A=) | |
5 | g.128305085A= | CA1581255432 | FBN2 | n.2459-3T= n.2378-3T= c.5675-3T= (n.5675-3T=) c.5672-3T= (n.5672-3T=) c.5522-3T= (n.5522-3T=) | |
5 | g.128305085A>G | CA3394622 | FBN2 | n.2459-3T>C n.2378-3T>C c.5675-3T>C (n.5675-3T>C) c.5672-3T>C (n.5672-3T>C) c.5522-3T>C (n.5522-3T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128305088del | CA2675114517 | FBN2 | n.2459-3del n.2378-3del c.5675-3del (n.5675-3del) c.5672-3del (n.5672-3del) c.5522-3del (n.5522-3del) | gnomAD v4 |
5 | g.128305087_128305088del | CA2675114518 | FBN2 | n.2459-4_2459-3del n.2378-4_2378-3del c.5675-4_5675-3del (n.5675-4_5675-3del) c.5672-4_5672-3del (n.5672-4_5672-3del) c.5522-4_5522-3del (n.5522-4_5522-3del) | gnomAD v4 |
5 | g.128305088A= | CA1581255433 | FBN2 | n.2459-6T= n.2378-6T= c.5675-6T= (n.5675-6T=) c.5672-6T= (n.5672-6T=) c.5522-6T= (n.5522-6T=) | |
5 | g.128305088A>G | CA562709851 | FBN2 | n.2459-6T>C n.2378-6T>C c.5675-6T>C (n.5675-6T>C) c.5672-6T>C (n.5672-6T>C) c.5522-6T>C (n.5522-6T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128305089C>A | CA1081359215 | FBN2 | n.2459-7G>T n.2378-7G>T c.5675-7G>T (n.5675-7G>T) c.5672-7G>T (n.5672-7G>T) c.5522-7G>T (n.5522-7G>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128305089C= | CA1581255434 | FBN2 | n.2459-7G= n.2378-7G= c.5675-7G= (n.5675-7G=) c.5672-7G= (n.5672-7G=) c.5522-7G= (n.5522-7G=) | |
5 | g.128305089C>T | CA3394624 | FBN2 | n.2459-7G>A n.2378-7G>A c.5675-7G>A (n.5675-7G>A) c.5672-7G>A (n.5672-7G>A) c.5522-7G>A (n.5522-7G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128305090del | CA2675114520 | FBN2 | n.2459-8del n.2378-8del c.5675-8del (n.5675-8del) c.5672-8del (n.5672-8del) c.5522-8del (n.5522-8del) | gnomAD v4 |
5 | g.128305090A= | CA1581255435 | FBN2 | n.2459-8T= n.2378-8T= c.5675-8T= (n.5675-8T=) c.5672-8T= (n.5672-8T=) c.5522-8T= (n.5522-8T=) | |
5 | g.128305090A>C | CA126983381 | FBN2 | n.2459-8T>G n.2378-8T>G c.5675-8T>G (n.5675-8T>G) c.5672-8T>G (n.5672-8T>G) c.5522-8T>G (n.5522-8T>G) | dbSNP |
5 | g.128305090A>T | CA3394625 | FBN2 | n.2459-8T>A n.2378-8T>A c.5675-8T>A (n.5675-8T>A) c.5672-8T>A (n.5672-8T>A) c.5522-8T>A (n.5522-8T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128305090_128305091insAA | CA2675114521 | FBN2 | n.2459-8_2459-7insTT n.2378-8_2378-7insTT c.5675-8_5675-7insTT (n.5675-8_5675-7insTT) c.5672-8_5672-7insTT (n.5672-8_5672-7insTT) c.5522-8_5522-7insTT (n.5522-8_5522-7insTT) | gnomAD v4 |
5 | g.128305090dup | CA3394623 | FBN2 | n.2459-8dup n.2378-8dup c.5675-8dup (n.5675-8dup) c.5672-8dup (n.5672-8dup) c.5522-8dup (n.5522-8dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128305090_128305091delinsAG | CA1581255436 | FBN2 | n.2459-9_2459-8delinsCT n.2378-9_2378-8delinsCT c.5675-9_5675-8delinsCT (n.5675-9_5675-8delinsCT) c.5672-9_5672-8delinsCT (n.5672-9_5672-8delinsCT) c.5522-9_5522-8delinsCT (n.5522-9_5522-8delinsCT) | |
5 | g.128305091_128305092del | CA2675114519 | FBN2 | n.2459-9_2459-8del n.2378-9_2378-8del c.5675-9_5675-8del (n.5675-9_5675-8del) c.5672-9_5672-8del (n.5672-9_5672-8del) c.5522-9_5522-8del (n.5522-9_5522-8del) | gnomAD v4 |
5 | g.128305090_128305091insAAAC | CA2675114522 | FBN2 | n.2459-9_2459-8insGTTT n.2378-9_2378-8insGTTT c.5675-9_5675-8insGTTT (n.5675-9_5675-8insGTTT) c.5672-9_5672-8insGTTT (n.5672-9_5672-8insGTTT) c.5522-9_5522-8insGTTT (n.5522-9_5522-8insGTTT) | gnomAD v4 |
5 | g.128305091del | CA320382 | FBN2 | n.2459-9del n.2378-9del c.5675-9del (n.5675-9del) c.5672-9del (n.5672-9del) c.5522-9del (n.5522-9del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128305091G>A | CA288826 | FBN2 | n.2459-9C>T n.2378-9C>T c.5675-9C>T (n.5675-9C>T) c.5672-9C>T (n.5672-9C>T) c.5522-9C>T (n.5522-9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128305091G>C | CA1581255439 | FBN2 | n.2459-9C>G n.2378-9C>G c.5675-9C>G (n.5675-9C>G) c.5672-9C>G (n.5672-9C>G) c.5522-9C>G (n.5522-9C>G) | dbSNP gnomAD v4 |
5 | g.128305091G= | CA1581255440 | FBN2 | n.2459-9C= n.2378-9C= c.5675-9C= (n.5675-9C=) c.5672-9C= (n.5672-9C=) c.5522-9C= (n.5522-9C=) | |
5 | g.128305091G>T | CA1581255437 | FBN2 | n.2459-9C>A n.2378-9C>A c.5675-9C>A (n.5675-9C>A) c.5672-9C>A (n.5672-9C>A) c.5522-9C>A (n.5522-9C>A) | dbSNP gnomAD v4 |
5 | g.128305091delinsAA | CA2499217539 | FBN2 | n.2459-9delinsTT n.2378-9delinsTT c.5675-9delinsTT (n.5675-9delinsTT) c.5672-9delinsTT (n.5672-9delinsTT) c.5522-9delinsTT (n.5522-9delinsTT) | ClinVar dbSNP |
5 | g.128305091_128305092delinsGA | CA1581255438 | FBN2 | n.2459-10_2459-9delinsTC n.2378-10_2378-9delinsTC c.5675-10_5675-9delinsTC (n.5675-10_5675-9delinsTC) c.5672-10_5672-9delinsTC (n.5672-10_5672-9delinsTC) c.5522-10_5522-9delinsTC (n.5522-10_5522-9delinsTC) |