Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128304991G>ACA446306361FBN2n.2550C>T
n.2469C>T
c.5766C>T (p.Gly1922=)
c.5763C>T (p.Gly1921=)
c.5613C>T (p.Gly1871=)
5g.128304991G>CCA446306362FBN2n.2550C>G
n.2469C>G
c.5766C>G (p.Gly1922=)
c.5763C>G (p.Gly1921=)
c.5613C>G (p.Gly1871=)
5g.128304991G>TCA446306363FBN2n.2550C>A
n.2469C>A
c.5766C>A (p.Gly1922=)
c.5763C>A (p.Gly1921=)
c.5613C>A (p.Gly1871=)
5g.128304992C>ACA360739860FBN2n.2549G>T
n.2468G>T
c.5765G>T (p.Gly1922Val)
c.5762G>T (p.Gly1921Val)
c.5612G>T (p.Gly1871Val)
5g.128304992C>GCA360739864FBN2n.2549G>C
n.2468G>C
c.5765G>C (p.Gly1922Ala)
c.5762G>C (p.Gly1921Ala)
c.5612G>C (p.Gly1871Ala)
5g.128304992C>TCA360739862FBN2n.2549G>A
n.2468G>A
c.5765G>A (p.Gly1922Asp)
c.5762G>A (p.Gly1921Asp)
c.5612G>A (p.Gly1871Asp)
5g.128304993C>ACA360739866FBN2n.2548G>T
n.2467G>T
c.5764G>T (p.Gly1922Cys)
c.5761G>T (p.Gly1921Cys)
c.5611G>T (p.Gly1871Cys)
5g.128304993C>GCA360739867FBN2n.2548G>C
n.2467G>C
c.5764G>C (p.Gly1922Arg)
c.5761G>C (p.Gly1921Arg)
c.5611G>C (p.Gly1871Arg)
5g.128304993C>TCA360739869FBN2n.2548G>A
n.2467G>A
c.5764G>A (p.Gly1922Ser)
c.5761G>A (p.Gly1921Ser)
c.5611G>A (p.Gly1871Ser)
 gnomAD v4
5g.128304994A>CCA360739872FBN2n.2547T>G
n.2466T>G
c.5763T>G (p.Asn1921Lys)
c.5760T>G (p.Asn1920Lys)
c.5610T>G (p.Asn1870Lys)
5g.128304994A>GCA446306366FBN2n.2547T>C
n.2466T>C
c.5763T>C (p.Asn1921=)
c.5760T>C (p.Asn1920=)
c.5610T>C (p.Asn1870=)
 gnomAD v4
5g.128304994A>TCA360739873FBN2n.2547T>A
n.2466T>A
c.5763T>A (p.Asn1921Lys)
c.5760T>A (p.Asn1920Lys)
c.5610T>A (p.Asn1870Lys)
5g.128304995T>ACA360739876FBN2n.2546A>T
n.2465A>T
c.5762A>T (p.Asn1921Ile)
c.5759A>T (p.Asn1920Ile)
c.5609A>T (p.Asn1870Ile)
5g.128304995T>CCA360739877FBN2n.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
5g.128304995T>GCA360739879FBN2n.2546A>C
n.2465A>C
c.5762A>C (p.Asn1921Thr)
c.5759A>C (p.Asn1920Thr)
c.5609A>C (p.Asn1870Thr)
5g.128304995T=CA1581255392FBN2n.2546A=
n.2465A=
c.5762A= (p.Asn1921=)
c.5759A= (p.Asn1920=)
c.5609A= (p.Asn1870=)
5g.128304996_128304998dupCA446306367FBN2n.2544_2546dup
n.2463_2465dup
c.5760_5762dup (p.Asn1921_Gly1922insAsn)
c.5757_5759dup (p.Asn1920_Gly1921insAsn)
c.5607_5609dup (p.Asn1870_Gly1871insAsn)
5g.128304996T>ACA126983115FBN2n.2545A>T
n.2464A>T
c.5761A>T (p.Asn1921Tyr)
c.5758A>T (p.Asn1920Tyr)
c.5608A>T (p.Asn1870Tyr)
 dbSNP
5g.128304996T>CCA360739884FBN2n.2545A>G
n.2464A>G
c.5761A>G (p.Asn1921Asp)
c.5758A>G (p.Asn1920Asp)
c.5608A>G (p.Asn1870Asp)
 gnomAD v4
5g.128304996T>GCA360739882FBN2n.2545A>C
n.2464A>C
c.5761A>C (p.Asn1921His)
c.5758A>C (p.Asn1920His)
c.5608A>C (p.Asn1870His)
5g.128304996T=CA1581255393FBN2n.2545A=
n.2464A=
c.5761A= (p.Asn1921=)
c.5758A= (p.Asn1920=)
c.5608A= (p.Asn1870=)
5g.128304997G>ACA126983116FBN2n.2544C>T
n.2463C>T
c.5760C>T (p.His1920=)
c.5757C>T (p.His1919=)
c.5607C>T (p.His1869=)
 dbSNP
5g.128304997G>CCA360739886FBN2n.2544C>G
n.2463C>G
c.5760C>G (p.His1920Gln)
c.5757C>G (p.His1919Gln)
c.5607C>G (p.His1869Gln)
5g.128304997G=CA1581255394FBN2n.2544C=
n.2463C=
c.5760C= (p.His1920=)
c.5757C= (p.His1919=)
c.5607C= (p.His1869=)
5g.128304997G>TCA360739888FBN2n.2544C>A
n.2463C>A
c.5760C>A (p.His1920Gln)
c.5757C>A (p.His1919Gln)
c.5607C>A (p.His1869Gln)
5g.128304998T>ACA360739889FBN2n.2543A>T
n.2462A>T
c.5759A>T (p.His1920Leu)
c.5756A>T (p.His1919Leu)
c.5606A>T (p.His1869Leu)
5g.128304998T>CCA360739891FBN2n.2543A>G
n.2462A>G
c.5759A>G (p.His1920Arg)
c.5756A>G (p.His1919Arg)
c.5606A>G (p.His1869Arg)
 ClinVar dbSNP gnomAD v4
5g.128304998T>GCA360739893FBN2n.2543A>C
n.2462A>C
c.5759A>C (p.His1920Pro)
c.5756A>C (p.His1919Pro)
c.5606A>C (p.His1869Pro)
5g.128304998T=CA1581255395FBN2n.2543A=
n.2462A=
c.5759A= (p.His1920=)
c.5756A= (p.His1919=)
c.5606A= (p.His1869=)
5g.128304999G>ACA360739895FBN2n.2542C>T
n.2461C>T
c.5758C>T (p.His1920Tyr)
c.5755C>T (p.His1919Tyr)
c.5605C>T (p.His1869Tyr)
 gnomAD v4
5g.128304999G>CCA360739898FBN2n.2542C>G
n.2461C>G
c.5758C>G (p.His1920Asp)
c.5755C>G (p.His1919Asp)
c.5605C>G (p.His1869Asp)
5g.128304999G>TCA360739896FBN2n.2542C>A
n.2461C>A
c.5758C>A (p.His1920Asn)
c.5755C>A (p.His1919Asn)
c.5605C>A (p.His1869Asn)
5g.128305000G>ACA446306368FBN2n.2541C>T
n.2460C>T
c.5757C>T (p.Cys1919=)
c.5754C>T (p.Cys1918=)
c.5604C>T (p.Cys1868=)
 gnomAD v4
5g.128305000G>CCA360739900FBN2n.2541C>G
n.2460C>G
c.5757C>G (p.Cys1919Trp)
c.5754C>G (p.Cys1918Trp)
c.5604C>G (p.Cys1868Trp)
5g.128305000G>TCA360739902FBN2n.2541C>A
n.2460C>A
c.5757C>A (p.Cys1919Ter)
c.5754C>A (p.Cys1918Ter)
c.5604C>A (p.Cys1868Ter)
5g.128305001C>ACA360739904FBN2n.2540G>T
n.2459G>T
c.5756G>T (p.Cys1919Phe)
c.5753G>T (p.Cys1918Phe)
c.5603G>T (p.Cys1868Phe)
 dbSNP
5g.128305001C=CA1581255396FBN2n.2540G=
n.2459G=
c.5756G= (p.Cys1919=)
c.5753G= (p.Cys1918=)
c.5603G= (p.Cys1868=)
5g.128305001C>GCA360739906FBN2n.2540G>C
n.2459G>C
c.5756G>C (p.Cys1919Ser)
c.5753G>C (p.Cys1918Ser)
c.5603G>C (p.Cys1868Ser)
5g.128305001C>TCA360739907FBN2n.2540G>A
n.2459G>A
c.5756G>A (p.Cys1919Tyr)
c.5753G>A (p.Cys1918Tyr)
c.5603G>A (p.Cys1868Tyr)
5g.128305002A>CCA360739911FBN2n.2539T>G
n.2458T>G
c.5755T>G (p.Cys1919Gly)
c.5752T>G (p.Cys1918Gly)
c.5602T>G (p.Cys1868Gly)
5g.128305002A>GCA360739913FBN2n.2539T>C
n.2458T>C
c.5755T>C (p.Cys1919Arg)
c.5752T>C (p.Cys1918Arg)
c.5602T>C (p.Cys1868Arg)
5g.128305002A>TCA360739914FBN2n.2539T>A
n.2458T>A
c.5755T>A (p.Cys1919Ser)
c.5752T>A (p.Cys1918Ser)
c.5602T>A (p.Cys1868Ser)
5g.128305003G>ACA446306369FBN2n.2538C>T
n.2457C>T
c.5754C>T (p.Ile1918=)
c.5751C>T (p.Ile1917=)
c.5601C>T (p.Ile1867=)
5g.128305003G>CCA360739916FBN2n.2538C>G
n.2457C>G
c.5754C>G (p.Ile1918Met)
c.5751C>G (p.Ile1917Met)
c.5601C>G (p.Ile1867Met)
5g.128305003G=CA1581255397FBN2n.2538C=
n.2457C=
c.5754C= (p.Ile1918=)
c.5751C= (p.Ile1917=)
c.5601C= (p.Ile1867=)
5g.128305003G>TCA446306370FBN2n.2538C>A
n.2457C>A
c.5754C>A (p.Ile1918=)
c.5751C>A (p.Ile1917=)
c.5601C>A (p.Ile1867=)
 ClinVar dbSNP
5g.128305004A>CCA360739918FBN2n.2537T>G
n.2456T>G
c.5753T>G (p.Ile1918Ser)
c.5750T>G (p.Ile1917Ser)
c.5600T>G (p.Ile1867Ser)
5g.128305004A>GCA360739920FBN2n.2537T>C
n.2456T>C
c.5753T>C (p.Ile1918Thr)
c.5750T>C (p.Ile1917Thr)
c.5600T>C (p.Ile1867Thr)
5g.128305004A>TCA360739921FBN2n.2537T>A
n.2456T>A
c.5753T>A (p.Ile1918Asn)
c.5750T>A (p.Ile1917Asn)
c.5600T>A (p.Ile1867Asn)
5g.128305005T>ACA3394604FBN2n.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

Number of alleles fetched