Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128304960T>ACA360739697FBN2n.2581A>T
n.2500A>T
c.5797A>T (p.Met1933Leu)
c.5794A>T (p.Met1932Leu)
c.5644A>T (p.Met1882Leu)
5g.128304960T>CCA360739701FBN2n.2581A>G
n.2500A>G
c.5797A>G (p.Met1933Val)
c.5794A>G (p.Met1932Val)
c.5644A>G (p.Met1882Val)
 dbSNP gnomAD v2 gnomAD v4
5g.128304960T>GCA360739699FBN2n.2581A>C
n.2500A>C
c.5797A>C (p.Met1933Leu)
c.5794A>C (p.Met1932Leu)
c.5644A>C (p.Met1882Leu)
5g.128304960T=CA1581255381FBN2n.2581A=
n.2500A=
c.5797A= (p.Met1933=)
c.5794A= (p.Met1932=)
c.5644A= (p.Met1882=)
5g.128304961G>ACA446306341FBN2n.2580C>T
n.2499C>T
c.5796C>T (p.Cys1932=)
c.5793C>T (p.Cys1931=)
c.5643C>T (p.Cys1881=)
5g.128304961G>CCA360739703FBN2n.2580C>G
n.2499C>G
c.5796C>G (p.Cys1932Trp)
c.5793C>G (p.Cys1931Trp)
c.5643C>G (p.Cys1881Trp)
5g.128304961G>TCA360739705FBN2n.2580C>A
n.2499C>A
c.5796C>A (p.Cys1932Ter)
c.5793C>A (p.Cys1931Ter)
c.5643C>A (p.Cys1881Ter)
5g.128304962C>ACA360739707FBN2n.2579G>T
n.2498G>T
c.5795G>T (p.Cys1932Phe)
c.5792G>T (p.Cys1931Phe)
c.5642G>T (p.Cys1881Phe)
5g.128304962C>GCA360739709FBN2n.2579G>C
n.2498G>C
c.5795G>C (p.Cys1932Ser)
c.5792G>C (p.Cys1931Ser)
c.5642G>C (p.Cys1881Ser)
5g.128304962C>TCA360739710FBN2n.2579G>A
n.2498G>A
c.5795G>A (p.Cys1932Tyr)
c.5792G>A (p.Cys1931Tyr)
c.5642G>A (p.Cys1881Tyr)
5g.128304963A>CCA360739712FBN2n.2578T>G
n.2497T>G
c.5794T>G (p.Cys1932Gly)
c.5791T>G (p.Cys1931Gly)
c.5641T>G (p.Cys1881Gly)
5g.128304963A>GCA360739714FBN2n.2578T>C
n.2497T>C
c.5794T>C (p.Cys1932Arg)
c.5791T>C (p.Cys1931Arg)
c.5641T>C (p.Cys1881Arg)
5g.128304963A>TCA360739716FBN2n.2578T>A
n.2497T>A
c.5794T>A (p.Cys1932Ser)
c.5791T>A (p.Cys1931Ser)
c.5641T>A (p.Cys1881Ser)
5g.128304964C>ACA360739718FBN2n.2577G>T
n.2496G>T
c.5793G>T (p.Met1931Ile)
c.5790G>T (p.Met1930Ile)
c.5640G>T (p.Met1880Ile)
5g.128304964C=CA1581255382FBN2n.2577G=
n.2496G=
c.5793G= (p.Met1931=)
c.5790G= (p.Met1930=)
c.5640G= (p.Met1880=)
5g.128304964C>GCA360739720FBN2n.2577G>C
n.2496G>C
c.5793G>C (p.Met1931Ile)
c.5790G>C (p.Met1930Ile)
c.5640G>C (p.Met1880Ile)
5g.128304964C>TCA360739722FBN2n.2577G>A
n.2496G>A
c.5793G>A (p.Met1931Ile)
c.5790G>A (p.Met1930Ile)
c.5640G>A (p.Met1880Ile)
 dbSNP gnomAD v3 gnomAD v4
5g.128304965A=CA1581255383FBN2n.2576T=
n.2495T=
c.5792T= (p.Met1931=)
c.5789T= (p.Met1930=)
c.5639T= (p.Met1880=)
5g.128304965A>CCA360739725FBN2n.2576T>G
n.2495T>G
c.5792T>G (p.Met1931Arg)
c.5789T>G (p.Met1930Arg)
c.5639T>G (p.Met1880Arg)
5g.128304965A>GCA360739734FBN2n.2576T>C
n.2495T>C
c.5792T>C (p.Met1931Thr)
c.5789T>C (p.Met1930Thr)
c.5639T>C (p.Met1880Thr)
5g.128304965A>TCA360739732FBN2n.2576T>A
n.2495T>A
c.5792T>A (p.Met1931Lys)
c.5789T>A (p.Met1930Lys)
c.5639T>A (p.Met1880Lys)
 dbSNP
5g.128304966T>ACA360739737FBN2n.2575A>T
n.2494A>T
c.5791A>T (p.Met1931Leu)
c.5788A>T (p.Met1930Leu)
c.5638A>T (p.Met1880Leu)
 gnomAD v4
5g.128304966T>CCA360739741FBN2n.2575A>G
n.2494A>G
c.5791A>G (p.Met1931Val)
c.5788A>G (p.Met1930Val)
c.5638A>G (p.Met1880Val)
5g.128304966T>GCA360739738FBN2n.2575A>C
n.2494A>C
c.5791A>C (p.Met1931Leu)
c.5788A>C (p.Met1930Leu)
c.5638A>C (p.Met1880Leu)
5g.128304967G>ACA446306344FBN2n.2574C>T
n.2493C>T
c.5790C>T (p.Thr1930=)
c.5787C>T (p.Thr1929=)
c.5637C>T (p.Thr1879=)
5g.128304967G>CCA446306345FBN2n.2574C>G
n.2493C>G
c.5790C>G (p.Thr1930=)
c.5787C>G (p.Thr1929=)
c.5637C>G (p.Thr1879=)
5g.128304967G>TCA446306346FBN2n.2574C>A
n.2493C>A
c.5790C>A (p.Thr1930=)
c.5787C>A (p.Thr1929=)
c.5637C>A (p.Thr1879=)
5g.128304968G>ACA360739743FBN2n.2573C>T
n.2492C>T
c.5789C>T (p.Thr1930Ile)
c.5786C>T (p.Thr1929Ile)
c.5636C>T (p.Thr1879Ile)
5g.128304968G>CCA360739745FBN2n.2573C>G
n.2492C>G
c.5789C>G (p.Thr1930Ser)
c.5786C>G (p.Thr1929Ser)
c.5636C>G (p.Thr1879Ser)
5g.128304968G>TCA360739747FBN2n.2573C>A
n.2492C>A
c.5789C>A (p.Thr1930Asn)
c.5786C>A (p.Thr1929Asn)
c.5636C>A (p.Thr1879Asn)
 ClinVar
5g.128304969T>ACA360739749FBN2n.2572A>T
n.2491A>T
c.5788A>T (p.Thr1930Ser)
c.5785A>T (p.Thr1929Ser)
c.5635A>T (p.Thr1879Ser)
5g.128304969T>CCA360739751FBN2n.2572A>G
n.2491A>G
c.5788A>G (p.Thr1930Ala)
c.5785A>G (p.Thr1929Ala)
c.5635A>G (p.Thr1879Ala)
5g.128304969T>GCA360739753FBN2n.2572A>C
n.2491A>C
c.5788A>C (p.Thr1930Pro)
c.5785A>C (p.Thr1929Pro)
c.5635A>C (p.Thr1879Pro)
5g.128304970C>ACA360739757FBN2n.2571G>T
n.2490G>T
c.5787G>T (p.Gln1929His)
c.5784G>T (p.Gln1928His)
c.5634G>T (p.Gln1878His)
5g.128304970C=CA1581255384FBN2n.2571G=
n.2490G=
c.5787G= (p.Gln1929=)
c.5784G= (p.Gln1928=)
c.5634G= (p.Gln1878=)
5g.128304970C>GCA360739758FBN2n.2571G>C
n.2490G>C
c.5787G>C (p.Gln1929His)
c.5784G>C (p.Gln1928His)
c.5634G>C (p.Gln1878His)
5g.128304970C>TCA3394602FBN2n.2571G>A
n.2490G>A
c.5787G>A (p.Gln1929=)
c.5784G>A (p.Gln1928=)
c.5634G>A (p.Gln1878=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128304971T>ACA360739762FBN2n.2570A>T
n.2489A>T
c.5786A>T (p.Gln1929Leu)
c.5783A>T (p.Gln1928Leu)
c.5633A>T (p.Gln1878Leu)
5g.128304971T>CCA360739764FBN2n.2570A>G
n.2489A>G
c.5786A>G (p.Gln1929Arg)
c.5783A>G (p.Gln1928Arg)
c.5633A>G (p.Gln1878Arg)
5g.128304971T>GCA360739765FBN2n.2570A>C
n.2489A>C
c.5786A>C (p.Gln1929Pro)
c.5783A>C (p.Gln1928Pro)
c.5633A>C (p.Gln1878Pro)
5g.128304972G>ACA360739768FBN2n.2569C>T
n.2488C>T
c.5785C>T (p.Gln1929Ter)
c.5782C>T (p.Gln1928Ter)
c.5632C>T (p.Gln1878Ter)
 gnomAD v4
5g.128304972G>CCA360739771FBN2n.2569C>G
n.2488C>G
c.5785C>G (p.Gln1929Glu)
c.5782C>G (p.Gln1928Glu)
c.5632C>G (p.Gln1878Glu)
5g.128304972G>TCA360739770FBN2n.2569C>A
n.2488C>A
c.5785C>A (p.Gln1929Lys)
c.5782C>A (p.Gln1928Lys)
c.5632C>A (p.Gln1878Lys)
5g.128304973G>ACA446306351FBN2n.2568C>T
n.2487C>T
c.5784C>T (p.Asp1928=)
c.5781C>T (p.Asp1927=)
c.5631C>T (p.Asp1877=)
 dbSNP gnomAD v3 gnomAD v4
5g.128304973G>CCA360739774FBN2n.2568C>G
n.2487C>G
c.5784C>G (p.Asp1928Glu)
c.5781C>G (p.Asp1927Glu)
c.5631C>G (p.Asp1877Glu)
5g.128304973G=CA1581255385FBN2n.2568C=
n.2487C=
c.5784C= (p.Asp1928=)
c.5781C= (p.Asp1927=)
c.5631C= (p.Asp1877=)
5g.128304973G>TCA360739776FBN2n.2568C>A
n.2487C>A
c.5784C>A (p.Asp1928Glu)
c.5781C>A (p.Asp1927Glu)
c.5631C>A (p.Asp1877Glu)
5g.128304974T>ACA360739779FBN2n.2567A>T
n.2486A>T
c.5783A>T (p.Asp1928Val)
c.5780A>T (p.Asp1927Val)
c.5630A>T (p.Asp1877Val)
5g.128304974T>CCA360739781FBN2n.2567A>G
n.2486A>G
c.5783A>G (p.Asp1928Gly)
c.5780A>G (p.Asp1927Gly)
c.5630A>G (p.Asp1877Gly)
5g.128304974T>GCA360739782FBN2n.2567A>C
n.2486A>C
c.5783A>C (p.Asp1928Ala)
c.5780A>C (p.Asp1927Ala)
c.5630A>C (p.Asp1877Ala)
5g.128304975C>ACA360739785FBN2n.2566G>T
n.2485G>T
c.5782G>T (p.Asp1928Tyr)
c.5779G>T (p.Asp1927Tyr)
c.5629G>T (p.Asp1877Tyr)
5g.128304975C>GCA360739787FBN2n.2566G>C
n.2485G>C
c.5782G>C (p.Asp1928His)
c.5779G>C (p.Asp1927His)
c.5629G>C (p.Asp1877His)
5g.128304975C>TCA360739788FBN2n.2566G>A
n.2485G>A
c.5782G>A (p.Asp1928Asn)
c.5779G>A (p.Asp1927Asn)
c.5629G>A (p.Asp1877Asn)
5g.128304976C>ACA360739791FBN2n.2565G>T
n.2484G>T
c.5781G>T (p.Gln1927His)
c.5778G>T (p.Gln1926His)
c.5628G>T (p.Gln1876His)
5g.128304976C>GCA360739792FBN2n.2565G>C
n.2484G>C
c.5781G>C (p.Gln1927His)
c.5778G>C (p.Gln1926His)
c.5628G>C (p.Gln1876His)
5g.128304976C>TCA446306353FBN2n.2565G>A
n.2484G>A
c.5781G>A (p.Gln1927=)
c.5778G>A (p.Gln1926=)
c.5628G>A (p.Gln1876=)
5g.128304977T>ACA360739797FBN2n.2564A>T
n.2483A>T
c.5780A>T (p.Gln1927Leu)
c.5777A>T (p.Gln1926Leu)
c.5627A>T (p.Gln1876Leu)
5g.128304977T>CCA360739799FBN2n.2564A>G
n.2483A>G
c.5780A>G (p.Gln1927Arg)
c.5777A>G (p.Gln1926Arg)
c.5627A>G (p.Gln1876Arg)
 dbSNP gnomAD v2
5g.128304977T>GCA360739795FBN2n.2564A>C
n.2483A>C
c.5780A>C (p.Gln1927Pro)
c.5777A>C (p.Gln1926Pro)
c.5627A>C (p.Gln1876Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128304977T=CA1581255386FBN2n.2564A=
n.2483A=
c.5780A= (p.Gln1927=)
c.5777A= (p.Gln1926=)
c.5627A= (p.Gln1876=)
5g.128304978G>ACA360739801FBN2n.2563C>T
n.2482C>T
c.5779C>T (p.Gln1927Ter)
c.5776C>T (p.Gln1926Ter)
c.5626C>T (p.Gln1876Ter)
5g.128304978G>CCA360739803FBN2n.2563C>G
n.2482C>G
c.5779C>G (p.Gln1927Glu)
c.5776C>G (p.Gln1926Glu)
c.5626C>G (p.Gln1876Glu)
 gnomAD v4
5g.128304978G=CA1581255387FBN2n.2563C=
n.2482C=
c.5779C= (p.Gln1927=)
c.5776C= (p.Gln1926=)
c.5626C= (p.Gln1876=)
5g.128304978G>TCA3394603FBN2n.2563C>A
n.2482C>A
c.5779C>A (p.Gln1927Lys)
c.5776C>A (p.Gln1926Lys)
c.5626C>A (p.Gln1876Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128304979A=CA1581255388FBN2n.2562T=
n.2481T=
c.5778T= (p.Ser1926=)
c.5775T= (p.Ser1925=)
c.5625T= (p.Ser1875=)
5g.128304979A>CCA446306355FBN2n.2562T>G
n.2481T>G
c.5778T>G (p.Ser1926=)
c.5775T>G (p.Ser1925=)
c.5625T>G (p.Ser1875=)
5g.128304979A>GCA446306354FBN2n.2562T>C
n.2481T>C
c.5778T>C (p.Ser1926=)
c.5775T>C (p.Ser1925=)
c.5625T>C (p.Ser1875=)
5g.128304979A>TCA126983114FBN2n.2562T>A
n.2481T>A
c.5778T>A (p.Ser1926=)
c.5775T>A (p.Ser1925=)
c.5625T>A (p.Ser1875=)
 dbSNP
5g.128304980G>ACA360739807FBN2n.2561C>T
n.2480C>T
c.5777C>T (p.Ser1926Phe)
c.5774C>T (p.Ser1925Phe)
c.5624C>T (p.Ser1875Phe)
 gnomAD v4
5g.128304980G>CCA360739808FBN2n.2561C>G
n.2480C>G
c.5777C>G (p.Ser1926Cys)
c.5774C>G (p.Ser1925Cys)
c.5624C>G (p.Ser1875Cys)
5g.128304980G>TCA360739810FBN2n.2561C>A
n.2480C>A
c.5777C>A (p.Ser1926Tyr)
c.5774C>A (p.Ser1925Tyr)
c.5624C>A (p.Ser1875Tyr)
5g.128304981A>CCA360739812FBN2n.2560T>G
n.2479T>G
c.5776T>G (p.Ser1926Ala)
c.5773T>G (p.Ser1925Ala)
c.5623T>G (p.Ser1875Ala)
5g.128304981A>GCA360739813FBN2n.2560T>C
n.2479T>C
c.5776T>C (p.Ser1926Pro)
c.5773T>C (p.Ser1925Pro)
c.5623T>C (p.Ser1875Pro)
5g.128304981A>TCA360739815FBN2n.2560T>A
n.2479T>A
c.5776T>A (p.Ser1926Thr)
c.5773T>A (p.Ser1925Thr)
c.5623T>A (p.Ser1875Thr)
5g.128304982A>CCA446306356FBN2n.2559T>G
n.2478T>G
c.5775T>G (p.Ala1925=)
c.5772T>G (p.Ala1924=)
c.5622T>G (p.Ala1874=)
 gnomAD v4
5g.128304982A>GCA446306357FBN2n.2559T>C
n.2478T>C
c.5775T>C (p.Ala1925=)
c.5772T>C (p.Ala1924=)
c.5622T>C (p.Ala1874=)
 ClinVar dbSNP gnomAD v4
5g.128304982A>TCA446306358FBN2n.2559T>A
n.2478T>A
c.5775T>A (p.Ala1925=)
c.5772T>A (p.Ala1924=)
c.5622T>A (p.Ala1874=)
5g.128304983G>ACA360739818FBN2n.2558C>T
n.2477C>T
c.5774C>T (p.Ala1925Val)
c.5771C>T (p.Ala1924Val)
c.5621C>T (p.Ala1874Val)
 dbSNP
5g.128304983G>CCA360739819FBN2n.2558C>G
n.2477C>G
c.5774C>G (p.Ala1925Gly)
c.5771C>G (p.Ala1924Gly)
c.5621C>G (p.Ala1874Gly)
5g.128304983G=CA1581255389FBN2n.2558C=
n.2477C=
c.5774C= (p.Ala1925=)
c.5771C= (p.Ala1924=)
c.5621C= (p.Ala1874=)
5g.128304983G>TCA360739821FBN2n.2558C>A
n.2477C>A
c.5774C>A (p.Ala1925Asp)
c.5771C>A (p.Ala1924Asp)
c.5621C>A (p.Ala1874Asp)
5g.128304984C>ACA360739825FBN2n.2557G>T
n.2476G>T
c.5773G>T (p.Ala1925Ser)
c.5770G>T (p.Ala1924Ser)
c.5620G>T (p.Ala1874Ser)
 gnomAD v4
5g.128304984C>GCA360739826FBN2n.2557G>C
n.2476G>C
c.5773G>C (p.Ala1925Pro)
c.5770G>C (p.Ala1924Pro)
c.5620G>C (p.Ala1874Pro)
 gnomAD v4
5g.128304984C>TCA360739823FBN2n.2557G>A
n.2476G>A
c.5773G>A (p.Ala1925Thr)
c.5770G>A (p.Ala1924Thr)
c.5620G>A (p.Ala1874Thr)
5g.128304985C>ACA360739828FBN2n.2556G>T
n.2475G>T
c.5772G>T (p.Lys1924Asn)
c.5769G>T (p.Lys1923Asn)
c.5619G>T (p.Lys1873Asn)
 dbSNP gnomAD v3 gnomAD v4
5g.128304985C=CA1581255390FBN2n.2556G=
n.2475G=
c.5772G= (p.Lys1924=)
c.5769G= (p.Lys1923=)
c.5619G= (p.Lys1873=)
5g.128304985C>GCA360739830FBN2n.2556G>C
n.2475G>C
c.5772G>C (p.Lys1924Asn)
c.5769G>C (p.Lys1923Asn)
c.5619G>C (p.Lys1873Asn)
5g.128304985C>TCA446306359FBN2n.2556G>A
n.2475G>A
c.5772G>A (p.Lys1924=)
c.5769G>A (p.Lys1923=)
c.5619G>A (p.Lys1873=)
 gnomAD v4
5g.128304986T>ACA360739833FBN2n.2555A>T
n.2474A>T
c.5771A>T (p.Lys1924Met)
c.5768A>T (p.Lys1923Met)
c.5618A>T (p.Lys1873Met)
 dbSNP gnomAD v2
5g.128304986T>CCA360739835FBN2n.2555A>G
n.2474A>G
c.5771A>G (p.Lys1924Arg)
c.5768A>G (p.Lys1923Arg)
c.5618A>G (p.Lys1873Arg)
5g.128304986T>GCA360739836FBN2n.2555A>C
n.2474A>C
c.5771A>C (p.Lys1924Thr)
c.5768A>C (p.Lys1923Thr)
c.5618A>C (p.Lys1873Thr)
5g.128304986T=CA1581255391FBN2n.2555A=
n.2474A=
c.5771A= (p.Lys1924=)
c.5768A= (p.Lys1923=)
c.5618A= (p.Lys1873=)
5g.128304987T>ACA360739842FBN2n.2554A>T
n.2473A>T
c.5770A>T (p.Lys1924Ter)
c.5767A>T (p.Lys1923Ter)
c.5617A>T (p.Lys1873Ter)
5g.128304987T>CCA360739839FBN2n.2554A>G
n.2473A>G
c.5770A>G (p.Lys1924Glu)
c.5767A>G (p.Lys1923Glu)
c.5617A>G (p.Lys1873Glu)
5g.128304987T>GCA360739841FBN2n.2554A>C
n.2473A>C
c.5770A>C (p.Lys1924Gln)
c.5767A>C (p.Lys1923Gln)
c.5617A>C (p.Lys1873Gln)
5g.128304988A>CCA360739843FBN2n.2553T>G
n.2472T>G
c.5769T>G (p.Phe1923Leu)
c.5766T>G (p.Phe1922Leu)
c.5616T>G (p.Phe1872Leu)
5g.128304988A>GCA446306360FBN2n.2553T>C
n.2472T>C
c.5769T>C (p.Phe1923=)
c.5766T>C (p.Phe1922=)
c.5616T>C (p.Phe1872=)
 gnomAD v4
5g.128304988A>TCA360739845FBN2n.2553T>A
n.2472T>A
c.5769T>A (p.Phe1923Leu)
c.5766T>A (p.Phe1922Leu)
c.5616T>A (p.Phe1872Leu)
 gnomAD v4
5g.128304989A>CCA360739847FBN2n.2552T>G
n.2471T>G
c.5768T>G (p.Phe1923Cys)
c.5765T>G (p.Phe1922Cys)
c.5615T>G (p.Phe1872Cys)
5g.128304989A>GCA360739849FBN2n.2552T>C
n.2471T>C
c.5768T>C (p.Phe1923Ser)
c.5765T>C (p.Phe1922Ser)
c.5615T>C (p.Phe1872Ser)
5g.128304989A>TCA360739850FBN2n.2552T>A
n.2471T>A
c.5768T>A (p.Phe1923Tyr)
c.5765T>A (p.Phe1922Tyr)
c.5615T>A (p.Phe1872Tyr)
5g.128304990A>CCA360739853FBN2n.2551T>G
n.2470T>G
c.5767T>G (p.Phe1923Val)
c.5764T>G (p.Phe1922Val)
c.5614T>G (p.Phe1872Val)
5g.128304990A>GCA360739857FBN2n.2551T>C
n.2470T>C
c.5767T>C (p.Phe1923Leu)
c.5764T>C (p.Phe1922Leu)
c.5614T>C (p.Phe1872Leu)
5g.128304990A>TCA360739855FBN2n.2551T>A
n.2470T>A
c.5767T>A (p.Phe1923Ile)
c.5764T>A (p.Phe1922Ile)
c.5614T>A (p.Phe1872Ile)
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
5g.128305005T>CCA360739924FBN2n.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
5g.128305005T>GCA360739926FBN2n.2536A>C
n.2455A>C
c.5752A>C (p.Ile1918Leu)
c.5749A>C (p.Ile1917Leu)
c.5599A>C (p.Ile1867Leu)
5g.128305005T=CA1581255398FBN2n.2536A=
n.2455A=
c.5752A= (p.Ile1918=)
c.5749A= (p.Ile1917=)
c.5599A= (p.Ile1867=)
5g.128305006G>ACA446306371FBN2n.2535C>T
n.2454C>T
c.5751C>T (p.Cys1917=)
c.5748C>T (p.Cys1916=)
c.5598C>T (p.Cys1866=)
5g.128305006G>CCA360739928FBN2n.2535C>G
n.2454C>G
c.5751C>G (p.Cys1917Trp)
c.5748C>G (p.Cys1916Trp)
c.5598C>G (p.Cys1866Trp)
5g.128305006G>TCA360739930FBN2n.2535C>A
n.2454C>A
c.5751C>A (p.Cys1917Ter)
c.5748C>A (p.Cys1916Ter)
c.5598C>A (p.Cys1866Ter)
5g.128305007C>ACA360739933FBN2n.2534G>T
n.2453G>T
c.5750G>T (p.Cys1917Phe)
c.5747G>T (p.Cys1916Phe)
c.5597G>T (p.Cys1866Phe)
5g.128305007C>GCA360739934FBN2n.2534G>C
n.2453G>C
c.5750G>C (p.Cys1917Ser)
c.5747G>C (p.Cys1916Ser)
c.5597G>C (p.Cys1866Ser)
5g.128305007C>TCA360739936FBN2n.2534G>A
n.2453G>A
c.5750G>A (p.Cys1917Tyr)
c.5747G>A (p.Cys1916Tyr)
c.5597G>A (p.Cys1866Tyr)
 ClinVar gnomAD v4
5g.128305008A>CCA360739939FBN2n.2533T>G
n.2452T>G
c.5749T>G (p.Cys1917Gly)
c.5746T>G (p.Cys1916Gly)
c.5596T>G (p.Cys1866Gly)
5g.128305008A>GCA360739940FBN2n.2533T>C
n.2452T>C
c.5749T>C (p.Cys1917Arg)
c.5746T>C (p.Cys1916Arg)
c.5596T>C (p.Cys1866Arg)
5g.128305008A>TCA360739942FBN2n.2533T>A
n.2452T>A
c.5749T>A (p.Cys1917Ser)
c.5746T>A (p.Cys1916Ser)
c.5596T>A (p.Cys1866Ser)
5g.128305009C>ACA360739945FBN2n.2532G>T
n.2451G>T
c.5748G>T (p.Gln1916His)
c.5745G>T (p.Gln1915His)
c.5595G>T (p.Gln1865His)
5g.128305009C>GCA360739946FBN2n.2532G>C
n.2451G>C
c.5748G>C (p.Gln1916His)
c.5745G>C (p.Gln1915His)
c.5595G>C (p.Gln1865His)
5g.128305009C>TCA446306372FBN2n.2532G>A
n.2451G>A
c.5748G>A (p.Gln1916=)
c.5745G>A (p.Gln1915=)
c.5595G>A (p.Gln1865=)
5g.128305010T>ACA360739949FBN2n.2531A>T
n.2450A>T
c.5747A>T (p.Gln1916Leu)
c.5744A>T (p.Gln1915Leu)
c.5594A>T (p.Gln1865Leu)
5g.128305010T>CCA360739950FBN2n.2531A>G
n.2450A>G
c.5747A>G (p.Gln1916Arg)
c.5744A>G (p.Gln1915Arg)
c.5594A>G (p.Gln1865Arg)
5g.128305010T>GCA360739952FBN2n.2531A>C
n.2450A>C
c.5747A>C (p.Gln1916Pro)
c.5744A>C (p.Gln1915Pro)
c.5594A>C (p.Gln1865Pro)
5g.128305011G>ACA360739958FBN2n.2530C>T
n.2449C>T
c.5746C>T (p.Gln1916Ter)
c.5743C>T (p.Gln1915Ter)
c.5593C>T (p.Gln1865Ter)
5g.128305011G>CCA360739957FBN2n.2530C>G
n.2449C>G
c.5746C>G (p.Gln1916Glu)
c.5743C>G (p.Gln1915Glu)
c.5593C>G (p.Gln1865Glu)
5g.128305011G>TCA360739954FBN2n.2530C>A
n.2449C>A
c.5746C>A (p.Gln1916Lys)
c.5743C>A (p.Gln1915Lys)
c.5593C>A (p.Gln1865Lys)
5g.128305012G>ACA446306373FBN2n.2529C>T
n.2448C>T
c.5745C>T (p.Tyr1915=)
c.5742C>T (p.Tyr1914=)
c.5592C>T (p.Tyr1864=)
 ClinVar COSMIC COSMIC
5g.128305012G>CCA360739959FBN2n.2529C>G
n.2448C>G
c.5745C>G (p.Tyr1915Ter)
c.5742C>G (p.Tyr1914Ter)
c.5592C>G (p.Tyr1864Ter)
5g.128305012G>TCA360739960FBN2n.2529C>A
n.2448C>A
c.5745C>A (p.Tyr1915Ter)
c.5742C>A (p.Tyr1914Ter)
c.5592C>A (p.Tyr1864Ter)
5g.128305013T>ACA126983124FBN2n.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
5g.128305013T>CCA360739961FBN2n.2528A>G
n.2447A>G
c.5744A>G (p.Tyr1915Cys)
c.5741A>G (p.Tyr1914Cys)
c.5591A>G (p.Tyr1864Cys)
5g.128305013T>GCA360739962FBN2n.2528A>C
n.2447A>C
c.5744A>C (p.Tyr1915Ser)
c.5741A>C (p.Tyr1914Ser)
c.5591A>C (p.Tyr1864Ser)
5g.128305013T=CA1581255399FBN2n.2528A=
n.2447A=
c.5744A= (p.Tyr1915=)
c.5741A= (p.Tyr1914=)
c.5591A= (p.Tyr1864=)
5g.128305014A>CCA360739963FBN2n.2527T>G
n.2446T>G
c.5743T>G (p.Tyr1915Asp)
c.5740T>G (p.Tyr1914Asp)
c.5590T>G (p.Tyr1864Asp)
5g.128305014A>GCA360739964FBN2n.2527T>C
n.2446T>C
c.5743T>C (p.Tyr1915His)
c.5740T>C (p.Tyr1914His)
c.5590T>C (p.Tyr1864His)
5g.128305014A>TCA360739965FBN2n.2527T>A
n.2446T>A
c.5743T>A (p.Tyr1915Asn)
c.5740T>A (p.Tyr1914Asn)
c.5590T>A (p.Tyr1864Asn)
5g.128305015A>CCA360739966FBN2n.2526T>G
n.2445T>G
c.5742T>G (p.Ser1914Arg)
c.5739T>G (p.Ser1913Arg)
c.5589T>G (p.Ser1863Arg)
5g.128305015A>GCA446306374FBN2n.2526T>C
n.2445T>C
c.5742T>C (p.Ser1914=)
c.5739T>C (p.Ser1913=)
c.5589T>C (p.Ser1863=)
5g.128305015A>TCA360739967FBN2n.2526T>A
n.2445T>A
c.5742T>A (p.Ser1914Arg)
c.5739T>A (p.Ser1913Arg)
c.5589T>A (p.Ser1863Arg)
5g.128305016C>ACA360739968FBN2n.2525G>T
n.2444G>T
c.5741G>T (p.Ser1914Ile)
c.5738G>T (p.Ser1913Ile)
c.5588G>T (p.Ser1863Ile)
5g.128305016C=CA1581255400FBN2n.2525G=
n.2444G=
c.5741G= (p.Ser1914=)
c.5738G= (p.Ser1913=)
c.5588G= (p.Ser1863=)
5g.128305016C>GCA360739969FBN2n.2525G>C
n.2444G>C
c.5741G>C (p.Ser1914Thr)
c.5738G>C (p.Ser1913Thr)
c.5588G>C (p.Ser1863Thr)
5g.128305016C>TCA360739970FBN2n.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
5g.128305017T>ACA360739972FBN2n.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
5g.128305017T>CCA360739973FBN2n.2524A>G
n.2443A>G
c.5740A>G (p.Ser1914Gly)
c.5737A>G (p.Ser1913Gly)
c.5587A>G (p.Ser1863Gly)
5g.128305017T>GCA360739971FBN2n.2524A>C
n.2443A>C
c.5740A>C (p.Ser1914Arg)
c.5737A>C (p.Ser1913Arg)
c.5587A>C (p.Ser1863Arg)
5g.128305018T>ACA446306375FBN2n.2523A>T
n.2442A>T
c.5739A>T (p.Gly1913=)
c.5736A>T (p.Gly1912=)
c.5586A>T (p.Gly1862=)
5g.128305018T>CCA446306377FBN2n.2523A>G
n.2442A>G
c.5739A>G (p.Gly1913=)
c.5736A>G (p.Gly1912=)
c.5586A>G (p.Gly1862=)
5g.128305018T>GCA446306376FBN2n.2523A>C
n.2442A>C
c.5739A>C (p.Gly1913=)
c.5736A>C (p.Gly1912=)
c.5586A>C (p.Gly1862=)
5g.128305019C>ACA360739974FBN2n.2522G>T
n.2441G>T
c.5738G>T (p.Gly1913Val)
c.5735G>T (p.Gly1912Val)
c.5585G>T (p.Gly1862Val)
5g.128305019C>GCA360739976FBN2n.2522G>C
n.2441G>C
c.5738G>C (p.Gly1913Ala)
c.5735G>C (p.Gly1912Ala)
c.5585G>C (p.Gly1862Ala)
5g.128305019C>TCA360739975FBN2n.2522G>A
n.2441G>A
c.5738G>A (p.Gly1913Glu)
c.5735G>A (p.Gly1912Glu)
c.5585G>A (p.Gly1862Glu)
 gnomAD v4
5g.128305020C>ACA360739977FBN2n.2521G>T
n.2440G>T
c.5737G>T (p.Gly1913Ter)
c.5734G>T (p.Gly1912Ter)
c.5584G>T (p.Gly1862Ter)
5g.128305020C>GCA360739978FBN2n.2521G>C
n.2440G>C
c.5737G>C (p.Gly1913Arg)
c.5734G>C (p.Gly1912Arg)
c.5584G>C (p.Gly1862Arg)
5g.128305020C>TCA360739979FBN2n.2521G>A
n.2440G>A
c.5737G>A (p.Gly1913Arg)
c.5734G>A (p.Gly1912Arg)
c.5584G>A (p.Gly1862Arg)
5g.128305021T>ACA360739980FBN2n.2520A>T
n.2439A>T
c.5736A>T (p.Gln1912His)
c.5733A>T (p.Gln1911His)
c.5583A>T (p.Gln1861His)
5g.128305021T>CCA3394605FBN2n.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
5g.128305021T>GCA360739981FBN2n.2520A>C
n.2439A>C
c.5736A>C (p.Gln1912His)
c.5733A>C (p.Gln1911His)
c.5583A>C (p.Gln1861His)
5g.128305021T=CA1581255401FBN2n.2520A=
n.2439A=
c.5736A= (p.Gln1912=)
c.5733A= (p.Gln1911=)
c.5583A= (p.Gln1861=)
5g.128305022T>ACA360739982FBN2n.2519A>T
n.2438A>T
c.5735A>T (p.Gln1912Leu)
c.5732A>T (p.Gln1911Leu)
c.5582A>T (p.Gln1861Leu)
5g.128305022T>CCA360739983FBN2n.2519A>G
n.2438A>G
c.5735A>G (p.Gln1912Arg)
c.5732A>G (p.Gln1911Arg)
c.5582A>G (p.Gln1861Arg)
5g.128305022T>GCA360739984FBN2n.2519A>C
n.2438A>C
c.5735A>C (p.Gln1912Pro)
c.5732A>C (p.Gln1911Pro)
c.5582A>C (p.Gln1861Pro)
5g.128305023G>ACA360739985FBN2n.2518C>T
n.2437C>T
c.5734C>T (p.Gln1912Ter)
c.5731C>T (p.Gln1911Ter)
c.5581C>T (p.Gln1861Ter)
5g.128305023G>CCA360739986FBN2n.2518C>G
n.2437C>G
c.5734C>G (p.Gln1912Glu)
c.5731C>G (p.Gln1911Glu)
c.5581C>G (p.Gln1861Glu)
5g.128305023G>TCA360739987FBN2n.2518C>A
n.2437C>A
c.5734C>A (p.Gln1912Lys)
c.5731C>A (p.Gln1911Lys)
c.5581C>A (p.Gln1861Lys)
5g.128305024C>ACA446306378FBN2n.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
5g.128305024C=CA1581255402FBN2n.2517G=
n.2436G=
c.5733G= (p.Leu1911=)
c.5730G= (p.Leu1910=)
c.5580G= (p.Leu1860=)
5g.128305024C>GCA446306379FBN2n.2517G>C
n.2436G>C
c.5733G>C (p.Leu1911=)
c.5730G>C (p.Leu1910=)
c.5580G>C (p.Leu1860=)
5g.128305024C>TCA446306380FBN2n.2517G>A
n.2436G>A
c.5733G>A (p.Leu1911=)
c.5730G>A (p.Leu1910=)
c.5580G>A (p.Leu1860=)
 gnomAD v4
5g.128305025A>CCA360739990FBN2n.2516T>G
n.2435T>G
c.5732T>G (p.Leu1911Arg)
c.5729T>G (p.Leu1910Arg)
c.5579T>G (p.Leu1860Arg)
5g.128305025A>GCA360739988FBN2n.2516T>C
n.2435T>C
c.5732T>C (p.Leu1911Pro)
c.5729T>C (p.Leu1910Pro)
c.5579T>C (p.Leu1860Pro)
5g.128305025A>TCA360739989FBN2n.2516T>A
n.2435T>A
c.5732T>A (p.Leu1911Gln)
c.5729T>A (p.Leu1910Gln)
c.5579T>A (p.Leu1860Gln)
5g.128305026G>ACA3394606FBN2n.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
5g.128305026G>CCA360739991FBN2n.2515C>G
n.2434C>G
c.5731C>G (p.Leu1911Val)
c.5728C>G (p.Leu1910Val)
c.5578C>G (p.Leu1860Val)
5g.128305026G=CA1581255403FBN2n.2515C=
n.2434C=
c.5731C= (p.Leu1911=)
c.5728C= (p.Leu1910=)
c.5578C= (p.Leu1860=)
5g.128305026G>TCA360739992FBN2n.2515C>A
n.2434C>A
c.5731C>A (p.Leu1911Met)
c.5728C>A (p.Leu1910Met)
c.5578C>A (p.Leu1860Met)
5g.128305027A>CCA360739993FBN2n.2514T>G
n.2433T>G
c.5730T>G (p.Asp1910Glu)
c.5727T>G (p.Asp1909Glu)
c.5577T>G (p.Asp1859Glu)
5g.128305027A>GCA446306381FBN2n.2514T>C
n.2433T>C
c.5730T>C (p.Asp1910=)
c.5727T>C (p.Asp1909=)
c.5577T>C (p.Asp1859=)
5g.128305027A>TCA360739994FBN2n.2514T>A
n.2433T>A
c.5730T>A (p.Asp1910Glu)
c.5727T>A (p.Asp1909Glu)
c.5577T>A (p.Asp1859Glu)
5g.128305028T>ACA3394608FBN2n.2513A>T
n.2432A>T
c.5729A>T (p.Asp1910Val)
c.5726A>T (p.Asp1909Val)
c.5576A>T (p.Asp1859Val)
 dbSNP ExAC gnomAD v2
5g.128305028T>CCA3394607FBN2n.2513A>G
n.2432A>G
c.5729A>G (p.Asp1910Gly)
c.5726A>G (p.Asp1909Gly)
c.5576A>G (p.Asp1859Gly)
 dbSNP ExAC gnomAD v2
5g.128305028T>GCA360739995FBN2n.2513A>C
n.2432A>C
c.5729A>C (p.Asp1910Ala)
c.5726A>C (p.Asp1909Ala)
c.5576A>C (p.Asp1859Ala)
5g.128305028T=CA1581255404FBN2n.2513A=
n.2432A=
c.5729A= (p.Asp1910=)
c.5726A= (p.Asp1909=)
c.5576A= (p.Asp1859=)
5g.128305029C>ACA3394609FBN2n.2512G>T
n.2431G>T
c.5728G>T (p.Asp1910Tyr)
c.5725G>T (p.Asp1909Tyr)
c.5575G>T (p.Asp1859Tyr)
 dbSNP ExAC
5g.128305029C=CA1581255405FBN2n.2512G=
n.2431G=
c.5728G= (p.Asp1910=)
c.5725G= (p.Asp1909=)
c.5575G= (p.Asp1859=)
5g.128305029C>GCA360739996FBN2n.2512G>C
n.2431G>C
c.5728G>C (p.Asp1910His)
c.5725G>C (p.Asp1909His)
c.5575G>C (p.Asp1859His)
5g.128305029C>TCA360739997FBN2n.2512G>A
n.2431G>A
c.5728G>A (p.Asp1910Asn)
c.5725G>A (p.Asp1909Asn)
c.5575G>A (p.Asp1859Asn)
5g.128305030A>CCA446306382FBN2n.2511T>G
n.2430T>G
c.5727T>G (p.Val1909=)
c.5724T>G (p.Val1908=)
c.5574T>G (p.Val1858=)
5g.128305030A>GCA446306383FBN2n.2511T>C
n.2430T>C
c.5727T>C (p.Val1909=)
c.5724T>C (p.Val1908=)
c.5574T>C (p.Val1858=)
 gnomAD v4
5g.128305030A>TCA446306384FBN2n.2511T>A
n.2430T>A
c.5727T>A (p.Val1909=)
c.5724T>A (p.Val1908=)
c.5574T>A (p.Val1858=)
5g.128305031A=CA1581255407FBN2n.2510T=
n.2429T=
c.5726T= (p.Val1909=)
c.5723T= (p.Val1908=)
c.5573T= (p.Val1858=)
5g.128305031A>CCA360739999FBN2n.2510T>G
n.2429T>G
c.5726T>G (p.Val1909Gly)
c.5723T>G (p.Val1908Gly)
c.5573T>G (p.Val1858Gly)
5g.128305031A>GCA360739998FBN2n.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
5g.128305031A>TCA3394610FBN2n.2510T>A
n.2429T>A
c.5726T>A (p.Val1909Asp)
c.5723T>A (p.Val1908Asp)
c.5573T>A (p.Val1858Asp)
 dbSNP ExAC
5g.128305031_128305036delinsACACACCA1581255406FBN2n.2505_2510delinsGTGTGT
n.2424_2429delinsGTGTGT
c.5721_5726delinsGTGTGT (p.Leu1907=)
c.5718_5723delinsGTGTGT (p.Leu1906=)
c.5568_5573delinsGTGTGT (p.Leu1856=)
5g.128305032C>ACA360740000FBN2n.2509G>T
n.2428G>T
c.5725G>T (p.Val1909Phe)
c.5722G>T (p.Val1908Phe)
c.5572G>T (p.Val1858Phe)
5g.128305032C>GCA360740001FBN2n.2509G>C
n.2428G>C
c.5725G>C (p.Val1909Leu)
c.5722G>C (p.Val1908Leu)
c.5572G>C (p.Val1858Leu)
5g.128305032C>TCA360740002FBN2n.2509G>A
n.2428G>A
c.5725G>A (p.Val1909Ile)
c.5722G>A (p.Val1908Ile)
c.5572G>A (p.Val1858Ile)
5g.128305032_128305036delCA446306385FBN2n.2505_2509del
n.2424_2428del
c.5721_5725del (p.Leu1907PhefsTer2)
c.5718_5722del (p.Leu1906PhefsTer2)
c.5568_5572del (p.Leu1856PhefsTer2)
 dbSNP
5g.128305033A=CA1581255408FBN2n.2508T=
n.2427T=
c.5724T= (p.Cys1908=)
c.5721T= (p.Cys1907=)
c.5571T= (p.Cys1857=)
5g.128305033A>CCA3394611FBN2n.2508T>G
n.2427T>G
c.5724T>G (p.Cys1908Trp)
c.5721T>G (p.Cys1907Trp)
c.5571T>G (p.Cys1857Trp)
 dbSNP ExAC gnomAD v2
5g.128305033A>GCA446306386FBN2n.2508T>C
n.2427T>C
c.5724T>C (p.Cys1908=)
c.5721T>C (p.Cys1907=)
c.5571T>C (p.Cys1857=)
5g.128305033A>TCA360740003FBN2n.2508T>A
n.2427T>A
c.5724T>A (p.Cys1908Ter)
c.5721T>A (p.Cys1907Ter)
c.5571T>A (p.Cys1857Ter)
5g.128305034_128305038delCA360740004FBN2n.2504_2508del
n.2423_2427del
c.5720_5724del (p.Leu1907CysfsTer2)
c.5717_5721del (p.Leu1906CysfsTer2)
c.5567_5571del (p.Leu1856CysfsTer2)
5g.128305034C>ACA3394612FBN2n.2507G>T
n.2426G>T
c.5723G>T (p.Cys1908Phe)
c.5720G>T (p.Cys1907Phe)
c.5570G>T (p.Cys1857Phe)
 dbSNP ExAC gnomAD v4
5g.128305034C=CA1581255409FBN2n.2507G=
n.2426G=
c.5723G= (p.Cys1908=)
c.5720G= (p.Cys1907=)
c.5570G= (p.Cys1857=)
5g.128305034C>GCA360740005FBN2n.2507G>C
n.2426G>C
c.5723G>C (p.Cys1908Ser)
c.5720G>C (p.Cys1907Ser)
c.5570G>C (p.Cys1857Ser)
5g.128305034C>TCA360740006FBN2n.2507G>A
n.2426G>A
c.5723G>A (p.Cys1908Tyr)
c.5720G>A (p.Cys1907Tyr)
c.5570G>A (p.Cys1857Tyr)
5g.128305035A>CCA360740007FBN2n.2506T>G
n.2425T>G
c.5722T>G (p.Cys1908Gly)
c.5719T>G (p.Cys1907Gly)
c.5569T>G (p.Cys1857Gly)
5g.128305035A>GCA360740008FBN2n.2506T>C
n.2425T>C
c.5722T>C (p.Cys1908Arg)
c.5719T>C (p.Cys1907Arg)
c.5569T>C (p.Cys1857Arg)
 dbSNP
5g.128305035A>TCA360740009FBN2n.2506T>A
n.2425T>A
c.5722T>A (p.Cys1908Ser)
c.5719T>A (p.Cys1907Ser)
c.5569T>A (p.Cys1857Ser)
5g.128305036C>ACA3394613FBN2n.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
5g.128305036C=CA1581255410FBN2n.2505G=
n.2424G=
c.5721G= (p.Leu1907=)
c.5718G= (p.Leu1906=)
c.5568G= (p.Leu1856=)
5g.128305036C>GCA360740010FBN2n.2505G>C
n.2424G>C
c.5721G>C (p.Leu1907Phe)
c.5718G>C (p.Leu1906Phe)
c.5568G>C (p.Leu1856Phe)
5g.128305036C>TCA446306387FBN2n.2505G>A
n.2424G>A
c.5721G>A (p.Leu1907=)
c.5718G>A (p.Leu1906=)
c.5568G>A (p.Leu1856=)
 gnomAD v4
5g.128305037A>CCA360740011FBN2n.2504T>G
n.2423T>G
c.5720T>G (p.Leu1907Trp)
c.5717T>G (p.Leu1906Trp)
c.5567T>G (p.Leu1856Trp)
5g.128305037A>GCA360740013FBN2n.2504T>C
n.2423T>C
c.5720T>C (p.Leu1907Ser)
c.5717T>C (p.Leu1906Ser)
c.5567T>C (p.Leu1856Ser)
5g.128305037A>TCA360740012FBN2n.2504T>A
n.2423T>A
c.5720T>A (p.Leu1907Ter)
c.5717T>A (p.Leu1906Ter)
c.5567T>A (p.Leu1856Ter)
5g.128305038A>CCA360740014FBN2n.2503T>G
n.2422T>G
c.5719T>G (p.Leu1907Val)
c.5716T>G (p.Leu1906Val)
c.5566T>G (p.Leu1856Val)
5g.128305038A>GCA446306388FBN2n.2503T>C
n.2422T>C
c.5719T>C (p.Leu1907=)
c.5716T>C (p.Leu1906=)
c.5566T>C (p.Leu1856=)
5g.128305038A>TCA360740015FBN2n.2503T>A
n.2422T>A
c.5719T>A (p.Leu1907Met)
c.5716T>A (p.Leu1906Met)
c.5566T>A (p.Leu1856Met)
5g.128305039G>ACA446306389FBN2n.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
5g.128305039G>CCA446306390FBN2n.2502C>G
n.2421C>G
c.5718C>G (p.Gly1906=)
c.5715C>G (p.Gly1905=)
c.5565C>G (p.Gly1855=)
5g.128305039G=CA1581255411FBN2n.2502C=
n.2421C=
c.5718C= (p.Gly1906=)
c.5715C= (p.Gly1905=)
c.5565C= (p.Gly1855=)
5g.128305039G>TCA446306391FBN2n.2502C>A
n.2421C>A
c.5718C>A (p.Gly1906=)
c.5715C>A (p.Gly1905=)
c.5565C>A (p.Gly1855=)
5g.128305040C>ACA360740016FBN2n.2501G>T
n.2420G>T
c.5717G>T (p.Gly1906Val)
c.5714G>T (p.Gly1905Val)
c.5564G>T (p.Gly1855Val)
5g.128305040C=CA1581255412FBN2n.2501G=
n.2420G=
c.5717G= (p.Gly1906=)
c.5714G= (p.Gly1905=)
c.5564G= (p.Gly1855=)
5g.128305040C>GCA3394614FBN2n.2501G>C
n.2420G>C
c.5717G>C (p.Gly1906Ala)
c.5714G>C (p.Gly1905Ala)
c.5564G>C (p.Gly1855Ala)
 dbSNP ExAC gnomAD v2
5g.128305040C>TCA360740017FBN2n.2501G>A
n.2420G>A
c.5717G>A (p.Gly1906Asp)
c.5714G>A (p.Gly1905Asp)
c.5564G>A (p.Gly1855Asp)
 gnomAD v4
5g.128305041C>ACA360740018FBN2n.2500G>T
n.2419G>T
c.5716G>T (p.Gly1906Cys)
c.5713G>T (p.Gly1905Cys)
c.5563G>T (p.Gly1855Cys)
5g.128305041C>GCA360740019FBN2n.2500G>C
n.2419G>C
c.5716G>C (p.Gly1906Arg)
c.5713G>C (p.Gly1905Arg)
c.5563G>C (p.Gly1855Arg)
5g.128305041C>TCA360740020FBN2n.2500G>A
n.2419G>A
c.5716G>A (p.Gly1906Ser)
c.5713G>A (p.Gly1905Ser)
c.5563G>A (p.Gly1855Ser)
 gnomAD v4
5g.128305042A>CCA360740021FBN2n.2499T>G
n.2418T>G
c.5715T>G (p.His1905Gln)
c.5712T>G (p.His1904Gln)
c.5562T>G (p.His1854Gln)
5g.128305042A>GCA446306392FBN2n.2499T>C
n.2418T>C
c.5715T>C (p.His1905=)
c.5712T>C (p.His1904=)
c.5562T>C (p.His1854=)
5g.128305042A>TCA360740022FBN2n.2499T>A
n.2418T>A
c.5715T>A (p.His1905Gln)
c.5712T>A (p.His1904Gln)
c.5562T>A (p.His1854Gln)
5g.128305043T>ACA360740023FBN2n.2498A>T
n.2417A>T
c.5714A>T (p.His1905Leu)
c.5711A>T (p.His1904Leu)
c.5561A>T (p.His1854Leu)
 dbSNP gnomAD v4
5g.128305043T>CCA126983236FBN2n.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
5g.128305043T>GCA360740024FBN2n.2498A>C
n.2417A>C
c.5714A>C (p.His1905Pro)
c.5711A>C (p.His1904Pro)
c.5561A>C (p.His1854Pro)
5g.128305043T=CA1581255413FBN2n.2498A=
n.2417A=
c.5714A= (p.His1905=)
c.5711A= (p.His1904=)
c.5561A= (p.His1854=)
5g.128305044G>ACA360740025FBN2n.2497C>T
n.2416C>T
c.5713C>T (p.His1905Tyr)
c.5710C>T (p.His1904Tyr)
c.5560C>T (p.His1854Tyr)
5g.128305044G>CCA360740027FBN2n.2497C>G
n.2416C>G
c.5713C>G (p.His1905Asp)
c.5710C>G (p.His1904Asp)
c.5560C>G (p.His1854Asp)
5g.128305044G>TCA360740026FBN2n.2497C>A
n.2416C>A
c.5713C>A (p.His1905Asn)
c.5710C>A (p.His1904Asn)
c.5560C>A (p.His1854Asn)
5g.128305045A>CCA360740028FBN2n.2496T>G
n.2415T>G
c.5712T>G (p.Ser1904Arg)
c.5709T>G (p.Ser1903Arg)
c.5559T>G (p.Ser1853Arg)
5g.128305045A>GCA446306393FBN2n.2496T>C
n.2415T>C
c.5712T>C (p.Ser1904=)
c.5709T>C (p.Ser1903=)
c.5559T>C (p.Ser1853=)
5g.128305045A>TCA360740029FBN2n.2496T>A
n.2415T>A
c.5712T>A (p.Ser1904Arg)
c.5709T>A (p.Ser1903Arg)
c.5559T>A (p.Ser1853Arg)
 gnomAD v4
5g.128305046C>ACA360740030FBN2n.2495G>T
n.2414G>T
c.5711G>T (p.Ser1904Ile)
c.5708G>T (p.Ser1903Ile)
c.5558G>T (p.Ser1853Ile)
5g.128305046C=CA1581255414FBN2n.2495G=
n.2414G=
c.5711G= (p.Ser1904=)
c.5708G= (p.Ser1903=)
c.5558G= (p.Ser1853=)
5g.128305046C>GCA360740031FBN2n.2495G>C
n.2414G>C
c.5711G>C (p.Ser1904Thr)
c.5708G>C (p.Ser1903Thr)
c.5558G>C (p.Ser1853Thr)
5g.128305046C>TCA360740032FBN2n.2495G>A
n.2414G>A
c.5711G>A (p.Ser1904Asn)
c.5708G>A (p.Ser1903Asn)
c.5558G>A (p.Ser1853Asn)
 dbSNP
5g.128305047T>ACA360740033FBN2n.2494A>T
n.2413A>T
c.5710A>T (p.Ser1904Cys)
c.5707A>T (p.Ser1903Cys)
c.5557A>T (p.Ser1853Cys)
5g.128305047T>CCA360740034FBN2n.2494A>G
n.2413A>G
c.5710A>G (p.Ser1904Gly)
c.5707A>G (p.Ser1903Gly)
c.5557A>G (p.Ser1853Gly)
5g.128305047T>GCA360740035FBN2n.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
5g.128305047T=CA1581255415FBN2n.2494A=
n.2413A=
c.5710A= (p.Ser1904=)
c.5707A= (p.Ser1903=)
c.5557A= (p.Ser1853=)
5g.128305048G>ACA446306394FBN2n.2493C>T
n.2412C>T
c.5709C>T (p.Cys1903=)
c.5706C>T (p.Cys1902=)
c.5556C>T (p.Cys1852=)
 dbSNP
5g.128305048G>CCA360740036FBN2n.2493C>G
n.2412C>G
c.5709C>G (p.Cys1903Trp)
c.5706C>G (p.Cys1902Trp)
c.5556C>G (p.Cys1852Trp)
5g.128305048G=CA1581255416FBN2n.2493C=
n.2412C=
c.5709C= (p.Cys1903=)
c.5706C= (p.Cys1902=)
c.5556C= (p.Cys1852=)
5g.128305048G>TCA360740037FBN2n.2493C>A
n.2412C>A
c.5709C>A (p.Cys1903Ter)
c.5706C>A (p.Cys1902Ter)
c.5556C>A (p.Cys1852Ter)
5g.128305049C>ACA360740038FBN2n.2492G>T
n.2411G>T
c.5708G>T (p.Cys1903Phe)
c.5705G>T (p.Cys1902Phe)
c.5555G>T (p.Cys1852Phe)
5g.128305049C>GCA360740039FBN2n.2492G>C
n.2411G>C
c.5708G>C (p.Cys1903Ser)
c.5705G>C (p.Cys1902Ser)
c.5555G>C (p.Cys1852Ser)
5g.128305049C>TCA360740040FBN2n.2492G>A
n.2411G>A
c.5708G>A (p.Cys1903Tyr)
c.5705G>A (p.Cys1902Tyr)
c.5555G>A (p.Cys1852Tyr)
 COSMIC
5g.128305050A>CCA360740043FBN2n.2491T>G
n.2410T>G
c.5707T>G (p.Cys1903Gly)
c.5704T>G (p.Cys1902Gly)
c.5554T>G (p.Cys1852Gly)
5g.128305050A>GCA360740041FBN2n.2491T>C
n.2410T>C
c.5707T>C (p.Cys1903Arg)
c.5704T>C (p.Cys1902Arg)
c.5554T>C (p.Cys1852Arg)
5g.128305050A>TCA360740042FBN2n.2491T>A
n.2410T>A
c.5707T>A (p.Cys1903Ser)
c.5704T>A (p.Cys1902Ser)
c.5554T>A (p.Cys1852Ser)
5g.128305051A>CCA446306398FBN2n.2490T>G
n.2409T>G
c.5706T>G (p.Val1902=)
c.5703T>G (p.Val1901=)
c.5553T>G (p.Val1851=)
5g.128305051A>GCA446306399FBN2n.2490T>C
n.2409T>C
c.5706T>C (p.Val1902=)
c.5703T>C (p.Val1901=)
c.5553T>C (p.Val1851=)
5g.128305051A>TCA446306400FBN2n.2490T>A
n.2409T>A
c.5706T>A (p.Val1902=)
c.5703T>A (p.Val1901=)
c.5553T>A (p.Val1851=)
5g.128305052A>CCA360740044FBN2n.2489T>G
n.2408T>G
c.5705T>G (p.Val1902Gly)
c.5702T>G (p.Val1901Gly)
c.5552T>G (p.Val1851Gly)
5g.128305052A>GCA360740045FBN2n.2489T>C
n.2408T>C
c.5705T>C (p.Val1902Ala)
c.5702T>C (p.Val1901Ala)
c.5552T>C (p.Val1851Ala)
5g.128305052A>TCA360740046FBN2n.2489T>A
n.2408T>A
c.5705T>A (p.Val1902Asp)
c.5702T>A (p.Val1901Asp)
c.5552T>A (p.Val1851Asp)
5g.128305053C>ACA360740047FBN2n.2488G>T
n.2407G>T
c.5704G>T (p.Val1902Phe)
c.5701G>T (p.Val1901Phe)
c.5551G>T (p.Val1851Phe)
 ClinVar
5g.128305053C=CA1581255417FBN2n.2488G=
n.2407G=
c.5704G= (p.Val1902=)
c.5701G= (p.Val1901=)
c.5551G= (p.Val1851=)
5g.128305053C>GCA360740048FBN2n.2488G>C
n.2407G>C
c.5704G>C (p.Val1902Leu)
c.5701G>C (p.Val1901Leu)
c.5551G>C (p.Val1851Leu)
5g.128305053C>TCA3394615FBN2n.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
5g.128305054G>ACA3394616FBN2n.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
5g.128305054G>CCA360740049FBN2n.2487C>G
n.2406C>G
c.5703C>G (p.Asn1901Lys)
c.5700C>G (p.Asn1900Lys)
c.5550C>G (p.Asn1850Lys)
5g.128305054G=CA1581255418FBN2n.2487C=
n.2406C=
c.5703C= (p.Asn1901=)
c.5700C= (p.Asn1900=)
c.5550C= (p.Asn1850=)
5g.128305054G>TCA360740050FBN2n.2487C>A
n.2406C>A
c.5703C>A (p.Asn1901Lys)
c.5700C>A (p.Asn1900Lys)
c.5550C>A (p.Asn1850Lys)
 gnomAD v4
5g.128305055T>ACA360740051FBN2n.2486A>T
n.2405A>T
c.5702A>T (p.Asn1901Ile)
c.5699A>T (p.Asn1900Ile)
c.5549A>T (p.Asn1850Ile)
5g.128305055T>CCA360740052FBN2n.2486A>G
n.2405A>G
c.5702A>G (p.Asn1901Ser)
c.5699A>G (p.Asn1900Ser)
c.5549A>G (p.Asn1850Ser)
5g.128305055T>GCA360740053FBN2n.2486A>C
n.2405A>C
c.5702A>C (p.Asn1901Thr)
c.5699A>C (p.Asn1900Thr)
c.5549A>C (p.Asn1850Thr)
5g.128305056T>ACA360740054FBN2n.2485A>T
n.2404A>T
c.5701A>T (p.Asn1901Tyr)
c.5698A>T (p.Asn1900Tyr)
c.5548A>T (p.Asn1850Tyr)
5g.128305056T>CCA126983273FBN2n.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
5g.128305056T>GCA360740055FBN2n.2485A>C
n.2404A>C
c.5701A>C (p.Asn1901His)
c.5698A>C (p.Asn1900His)
c.5548A>C (p.Asn1850His)
5g.128305056T=CA1581255419FBN2n.2485A=
n.2404A=
c.5701A= (p.Asn1901=)
c.5698A= (p.Asn1900=)
c.5548A= (p.Asn1850=)
5g.128305057A=CA1581255420FBN2n.2484T=
n.2403T=
c.5700T= (p.Pro1900=)
c.5697T= (p.Pro1899=)
c.5547T= (p.Pro1849=)
5g.128305057A>CCA446306403FBN2n.2484T>G
n.2403T>G
c.5700T>G (p.Pro1900=)
c.5697T>G (p.Pro1899=)
c.5547T>G (p.Pro1849=)
5g.128305057A>GCA126983282FBN2n.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
5g.128305057A>TCA446306405FBN2n.2484T>A
n.2403T>A
c.5700T>A (p.Pro1900=)
c.5697T>A (p.Pro1899=)
c.5547T>A (p.Pro1849=)
5g.128305058G>ACA3394617FBN2n.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
5g.128305058G>CCA360740056FBN2n.2483C>G
n.2402C>G
c.5699C>G (p.Pro1900Arg)
c.5696C>G (p.Pro1899Arg)
c.5546C>G (p.Pro1849Arg)
 gnomAD v4
5g.128305058G=CA1581255421FBN2n.2483C=
n.2402C=
c.5699C= (p.Pro1900=)
c.5696C= (p.Pro1899=)
c.5546C= (p.Pro1849=)
5g.128305058G>TCA360740057FBN2n.2483C>A
n.2402C>A
c.5699C>A (p.Pro1900His)
c.5696C>A (p.Pro1899His)
c.5546C>A (p.Pro1849His)
5g.128305059G>ACA360740058FBN2n.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
5g.128305059G>CCA360740059FBN2n.2482C>G
n.2401C>G
c.5698C>G (p.Pro1900Ala)
c.5695C>G (p.Pro1899Ala)
c.5545C>G (p.Pro1849Ala)
5g.128305059G=CA1581255422FBN2n.2482C=
n.2401C=
c.5698C= (p.Pro1900=)
c.5695C= (p.Pro1899=)
c.5545C= (p.Pro1849=)
5g.128305059G>TCA360740060FBN2n.2482C>A
n.2401C>A
c.5698C>A (p.Pro1900Thr)
c.5695C>A (p.Pro1899Thr)
c.5545C>A (p.Pro1849Thr)
5g.128305060A=CA1581255423FBN2n.2481T=
n.2400T=
c.5697T= (p.Ile1899=)
c.5694T= (p.Ile1898=)
c.5544T= (p.Ile1848=)
5g.128305060A>CCA360740061FBN2n.2481T>G
n.2400T>G
c.5697T>G (p.Ile1899Met)
c.5694T>G (p.Ile1898Met)
c.5544T>G (p.Ile1848Met)
5g.128305060A>GCA446306408FBN2n.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
5g.128305060A>TCA446306410FBN2n.2481T>A
n.2400T>A
c.5697T>A (p.Ile1899=)
c.5694T>A (p.Ile1898=)
c.5544T>A (p.Ile1848=)

Number of alleles fetched