Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128300853delCA2578395894FBN2n.2918del
n.2837del
c.6134del (p.Pro2045GlnfsTer5)
c.6131del (p.Pro2044GlnfsTer5)
c.5981del (p.Pro1994GlnfsTer5)
5g.128300853G>ACA360766307FBN2n.2914C>T
n.2833C>T
c.6130C>T (p.Pro2044Ser)
c.6127C>T (p.Pro2043Ser)
c.5977C>T (p.Pro1993Ser)
5g.128300853G>CCA3394498FBN2n.2914C>G
n.2833C>G
c.6130C>G (p.Pro2044Ala)
c.6127C>G (p.Pro2043Ala)
c.5977C>G (p.Pro1993Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128300853G=CA1581253469FBN2n.2914C=
n.2833C=
c.6130C= (p.Pro2044=)
c.6127C= (p.Pro2043=)
c.5977C= (p.Pro1993=)
5g.128300853G>TCA360766310FBN2n.2914C>A
n.2833C>A
c.6130C>A (p.Pro2044Thr)
c.6127C>A (p.Pro2043Thr)
c.5977C>A (p.Pro1993Thr)
5g.128300854A>CCA360766314FBN2n.2913T>G
n.2832T>G
c.6129T>G (p.Cys2043Trp)
c.6126T>G (p.Cys2042Trp)
c.5976T>G (p.Cys1992Trp)
5g.128300854A>GCA446309224FBN2n.2913T>C
n.2832T>C
c.6129T>C (p.Cys2043=)
c.6126T>C (p.Cys2042=)
c.5976T>C (p.Cys1992=)
5g.128300854A>TCA360766312FBN2n.2913T>A
n.2832T>A
c.6129T>A (p.Cys2043Ter)
c.6126T>A (p.Cys2042Ter)
c.5976T>A (p.Cys1992Ter)
5g.128300855C>ACA360766315FBN2n.2912G>T
n.2831G>T
c.6128G>T (p.Cys2043Phe)
c.6125G>T (p.Cys2042Phe)
c.5975G>T (p.Cys1992Phe)
5g.128300855C>GCA360766317FBN2n.2912G>C
n.2831G>C
c.6128G>C (p.Cys2043Ser)
c.6125G>C (p.Cys2042Ser)
c.5975G>C (p.Cys1992Ser)
5g.128300855C>TCA360766320FBN2n.2912G>A
n.2831G>A
c.6128G>A (p.Cys2043Tyr)
c.6125G>A (p.Cys2042Tyr)
c.5975G>A (p.Cys1992Tyr)
5g.128300856A=CA1581253470FBN2n.2911T=
n.2830T=
c.6127T= (p.Cys2043=)
c.6124T= (p.Cys2042=)
c.5974T= (p.Cys1992=)
5g.128300856A>CCA360766322FBN2n.2911T>G
n.2830T>G
c.6127T>G (p.Cys2043Gly)
c.6124T>G (p.Cys2042Gly)
c.5974T>G (p.Cys1992Gly)
 gnomAD v4
5g.128300856A>GCA3394499FBN2n.2911T>C
n.2830T>C
c.6127T>C (p.Cys2043Arg)
c.6124T>C (p.Cys2042Arg)
c.5974T>C (p.Cys1992Arg)
 dbSNP ExAC gnomAD v2
5g.128300856A>TCA360766324FBN2n.2911T>A
n.2830T>A
c.6127T>A (p.Cys2043Ser)
c.6124T>A (p.Cys2042Ser)
c.5974T>A (p.Cys1992Ser)
5g.128300857G>ACA446309229FBN2n.2910C>T
n.2829C>T
c.6126C>T (p.Ile2042=)
c.6123C>T (p.Ile2041=)
c.5973C>T (p.Ile1991=)
5g.128300857G>CCA360766325FBN2n.2910C>G
n.2829C>G
c.6126C>G (p.Ile2042Met)
c.6123C>G (p.Ile2041Met)
c.5973C>G (p.Ile1991Met)
5g.128300857G>TCA446309228FBN2n.2910C>A
n.2829C>A
c.6126C>A (p.Ile2042=)
c.6123C>A (p.Ile2041=)
c.5973C>A (p.Ile1991=)
5g.128300858A>CCA360766328FBN2n.2909T>G
n.2828T>G
c.6125T>G (p.Ile2042Ser)
c.6122T>G (p.Ile2041Ser)
c.5972T>G (p.Ile1991Ser)
 gnomAD v4
5g.128300858A>GCA360766330FBN2n.2909T>C
n.2828T>C
c.6125T>C (p.Ile2042Thr)
c.6122T>C (p.Ile2041Thr)
c.5972T>C (p.Ile1991Thr)
 gnomAD v4
5g.128300858A>TCA360766334FBN2n.2909T>A
n.2828T>A
c.6125T>A (p.Ile2042Asn)
c.6122T>A (p.Ile2041Asn)
c.5972T>A (p.Ile1991Asn)
5g.128300859T>ACA360766337FBN2n.2908A>T
n.2827A>T
c.6124A>T (p.Ile2042Phe)
c.6121A>T (p.Ile2041Phe)
c.5971A>T (p.Ile1991Phe)
5g.128300859T>CCA360766338FBN2n.2908A>G
n.2827A>G
c.6124A>G (p.Ile2042Val)
c.6121A>G (p.Ile2041Val)
c.5971A>G (p.Ile1991Val)
5g.128300859T>GCA360766341FBN2n.2908A>C
n.2827A>C
c.6124A>C (p.Ile2042Leu)
c.6121A>C (p.Ile2041Leu)
c.5971A>C (p.Ile1991Leu)
5g.128300860G>ACA446309231FBN2n.2907C>T
n.2826C>T
c.6123C>T (p.Cys2041=)
c.6120C>T (p.Cys2040=)
c.5970C>T (p.Cys1990=)
5g.128300860G>CCA360766342FBN2n.2907C>G
n.2826C>G
c.6123C>G (p.Cys2041Trp)
c.6120C>G (p.Cys2040Trp)
c.5970C>G (p.Cys1990Trp)
5g.128300860G>TCA360766343FBN2n.2907C>A
n.2826C>A
c.6123C>A (p.Cys2041Ter)
c.6120C>A (p.Cys2040Ter)
c.5970C>A (p.Cys1990Ter)
5g.128300861C>ACA360766344FBN2n.2906G>T
n.2825G>T
c.6122G>T (p.Cys2041Phe)
c.6119G>T (p.Cys2040Phe)
c.5969G>T (p.Cys1990Phe)
 COSMIC COSMIC
5g.128300861C>GCA360766347FBN2n.2906G>C
n.2825G>C
c.6122G>C (p.Cys2041Ser)
c.6119G>C (p.Cys2040Ser)
c.5969G>C (p.Cys1990Ser)
5g.128300861C>TCA360766345FBN2n.2906G>A
n.2825G>A
c.6122G>A (p.Cys2041Tyr)
c.6119G>A (p.Cys2040Tyr)
c.5969G>A (p.Cys1990Tyr)
 ClinVar dbSNP gnomAD v4
5g.128300862A>CCA360766349FBN2n.2905T>G
n.2824T>G
c.6121T>G (p.Cys2041Gly)
c.6118T>G (p.Cys2040Gly)
c.5968T>G (p.Cys1990Gly)
5g.128300862A>GCA360766353FBN2n.2905T>C
n.2824T>C
c.6121T>C (p.Cys2041Arg)
c.6118T>C (p.Cys2040Arg)
c.5968T>C (p.Cys1990Arg)
5g.128300862A>TCA360766351FBN2n.2905T>A
n.2824T>A
c.6121T>A (p.Cys2041Ser)
c.6118T>A (p.Cys2040Ser)
c.5968T>A (p.Cys1990Ser)
5g.128300863T>ACA360766355FBN2n.2904A>T
n.2823A>T
c.6120A>T (p.Arg2040Ser)
c.6117A>T (p.Arg2039Ser)
c.5967A>T (p.Arg1989Ser)
5g.128300863T>CCA446309235FBN2n.2904A>G
n.2823A>G
c.6120A>G (p.Arg2040=)
c.6117A>G (p.Arg2039=)
c.5967A>G (p.Arg1989=)
5g.128300863T>GCA360766357FBN2n.2904A>C
n.2823A>C
c.6120A>C (p.Arg2040Ser)
c.6117A>C (p.Arg2039Ser)
c.5967A>C (p.Arg1989Ser)
5g.128300864C>ACA360766359FBN2n.2903G>T
n.2822G>T
c.6119G>T (p.Arg2040Ile)
c.6116G>T (p.Arg2039Ile)
c.5966G>T (p.Arg1989Ile)
5g.128300864C=CA1581253471FBN2n.2903G=
n.2822G=
c.6119G= (p.Arg2040=)
c.6116G= (p.Arg2039=)
c.5966G= (p.Arg1989=)
5g.128300864C>GCA360766361FBN2n.2903G>C
n.2822G>C
c.6119G>C (p.Arg2040Thr)
c.6116G>C (p.Arg2039Thr)
c.5966G>C (p.Arg1989Thr)
5g.128300864C>TCA360766363FBN2n.2903G>A
n.2822G>A
c.6119G>A (p.Arg2040Lys)
c.6116G>A (p.Arg2039Lys)
c.5966G>A (p.Arg1989Lys)
 dbSNP gnomAD v2 gnomAD v4
5g.128300865T>ACA360766364FBN2n.2902A>T
n.2821A>T
c.6118A>T (p.Arg2040Ter)
c.6115A>T (p.Arg2039Ter)
c.5965A>T (p.Arg1989Ter)
5g.128300865T>CCA10587605FBN2n.2902A>G
n.2821A>G
c.6118A>G (p.Arg2040Gly)
c.6115A>G (p.Arg2039Gly)
c.5965A>G (p.Arg1989Gly)
 ClinVar dbSNP
5g.128300865T>GCA446309237FBN2n.2902A>C
n.2821A>C
c.6118A>C (p.Arg2040=)
c.6115A>C (p.Arg2039=)
c.5965A>C (p.Arg1989=)
5g.128300865T=CA1581253472FBN2n.2902A=
n.2821A=
c.6118A= (p.Arg2040=)
c.6115A= (p.Arg2039=)
c.5965A= (p.Arg1989=)
5g.128300866G>ACA446309238FBN2n.2901C>T
n.2820C>T
c.6117C>T (p.Phe2039=)
c.6114C>T (p.Phe2038=)
c.5964C>T (p.Phe1988=)
 dbSNP
5g.128300866G>CCA360766369FBN2n.2901C>G
n.2820C>G
c.6117C>G (p.Phe2039Leu)
c.6114C>G (p.Phe2038Leu)
c.5964C>G (p.Phe1988Leu)
5g.128300866G=CA1581253473FBN2n.2901C=
n.2820C=
c.6117C= (p.Phe2039=)
c.6114C= (p.Phe2038=)
c.5964C= (p.Phe1988=)
5g.128300866G>TCA360766371FBN2n.2901C>A
n.2820C>A
c.6117C>A (p.Phe2039Leu)
c.6114C>A (p.Phe2038Leu)
c.5964C>A (p.Phe1988Leu)
5g.128300867A>CCA360766374FBN2n.2900T>G
n.2819T>G
c.6116T>G (p.Phe2039Cys)
c.6113T>G (p.Phe2038Cys)
c.5963T>G (p.Phe1988Cys)
5g.128300867A>GCA360766376FBN2n.2900T>C
n.2819T>C
c.6116T>C (p.Phe2039Ser)
c.6113T>C (p.Phe2038Ser)
c.5963T>C (p.Phe1988Ser)
5g.128300867A>TCA360766378FBN2n.2900T>A
n.2819T>A
c.6116T>A (p.Phe2039Tyr)
c.6113T>A (p.Phe2038Tyr)
c.5963T>A (p.Phe1988Tyr)
 gnomAD v4
5g.128300868A>CCA360766380FBN2n.2899T>G
n.2818T>G
c.6115T>G (p.Phe2039Val)
c.6112T>G (p.Phe2038Val)
c.5962T>G (p.Phe1988Val)
5g.128300868A>GCA360766382FBN2n.2899T>C
n.2818T>C
c.6115T>C (p.Phe2039Leu)
c.6112T>C (p.Phe2038Leu)
c.5962T>C (p.Phe1988Leu)
5g.128300868A>TCA360766381FBN2n.2899T>A
n.2818T>A
c.6115T>A (p.Phe2039Ile)
c.6112T>A (p.Phe2038Ile)
c.5962T>A (p.Phe1988Ile)
5g.128300869G>ACA446309239FBN2n.2898C>T
n.2817C>T
c.6114C>T (p.Ser2038=)
c.6111C>T (p.Ser2037=)
c.5961C>T (p.Ser1987=)
 gnomAD v4
5g.128300869G>CCA446309241FBN2n.2898C>G
n.2817C>G
c.6114C>G (p.Ser2038=)
c.6111C>G (p.Ser2037=)
c.5961C>G (p.Ser1987=)
5g.128300869G=CA1581253474FBN2n.2898C=
n.2817C=
c.6114C= (p.Ser2038=)
c.6111C= (p.Ser2037=)
c.5961C= (p.Ser1987=)
5g.128300869G>TCA446309240FBN2n.2898C>A
n.2817C>A
c.6114C>A (p.Ser2038=)
c.6111C>A (p.Ser2037=)
c.5961C>A (p.Ser1987=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.128300870G>ACA360766385FBN2n.2897C>T
n.2816C>T
c.6113C>T (p.Ser2038Phe)
c.6110C>T (p.Ser2037Phe)
c.5960C>T (p.Ser1987Phe)
5g.128300870G>CCA360766386FBN2n.2897C>G
n.2816C>G
c.6113C>G (p.Ser2038Cys)
c.6110C>G (p.Ser2037Cys)
c.5960C>G (p.Ser1987Cys)
5g.128300870G=CA1581253475FBN2n.2897C=
n.2816C=
c.6113C= (p.Ser2038=)
c.6110C= (p.Ser2037=)
c.5960C= (p.Ser1987=)
5g.128300870G>TCA127043245FBN2n.2897C>A
n.2816C>A
c.6113C>A (p.Ser2038Tyr)
c.6110C>A (p.Ser2037Tyr)
c.5960C>A (p.Ser1987Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128300871A>CCA360766389FBN2n.2896T>G
n.2815T>G
c.6112T>G (p.Ser2038Ala)
c.6109T>G (p.Ser2037Ala)
c.5959T>G (p.Ser1987Ala)
5g.128300871A>GCA360766395FBN2n.2896T>C
n.2815T>C
c.6112T>C (p.Ser2038Pro)
c.6109T>C (p.Ser2037Pro)
c.5959T>C (p.Ser1987Pro)
5g.128300871A>TCA360766396FBN2n.2896T>A
n.2815T>A
c.6112T>A (p.Ser2038Thr)
c.6109T>A (p.Ser2037Thr)
c.5959T>A (p.Ser1987Thr)
5g.128300872T>ACA446309245FBN2n.2895A>T
n.2814A>T
c.6111A>T (p.Gly2037=)
c.6108A>T (p.Gly2036=)
c.5958A>T (p.Gly1986=)
5g.128300872T>CCA446309246FBN2n.2895A>G
n.2814A>G
c.6111A>G (p.Gly2037=)
c.6108A>G (p.Gly2036=)
c.5958A>G (p.Gly1986=)
5g.128300872T>GCA446309247FBN2n.2895A>C
n.2814A>C
c.6111A>C (p.Gly2037=)
c.6108A>C (p.Gly2036=)
c.5958A>C (p.Gly1986=)
5g.128300873C>ACA360766399FBN2n.2894G>T
n.2813G>T
c.6110G>T (p.Gly2037Val)
c.6107G>T (p.Gly2036Val)
c.5957G>T (p.Gly1986Val)
5g.128300873C>GCA360766401FBN2n.2894G>C
n.2813G>C
c.6110G>C (p.Gly2037Ala)
c.6107G>C (p.Gly2036Ala)
c.5957G>C (p.Gly1986Ala)
5g.128300873C>TCA360766403FBN2n.2894G>A
n.2813G>A
c.6110G>A (p.Gly2037Glu)
c.6107G>A (p.Gly2036Glu)
c.5957G>A (p.Gly1986Glu)
5g.128300874C>ACA360766408FBN2n.2893G>T
n.2812G>T
c.6109G>T (p.Gly2037Ter)
c.6106G>T (p.Gly2036Ter)
c.5956G>T (p.Gly1986Ter)
5g.128300874C>GCA360766410FBN2n.2893G>C
n.2812G>C
c.6109G>C (p.Gly2037Arg)
c.6106G>C (p.Gly2036Arg)
c.5956G>C (p.Gly1986Arg)
5g.128300874C>TCA360766406FBN2n.2893G>A
n.2812G>A
c.6109G>A (p.Gly2037Arg)
c.6106G>A (p.Gly2036Arg)
c.5956G>A (p.Gly1986Arg)
5g.128300875C>ACA360766412FBN2n.2892G>T
n.2811G>T
c.6108G>T (p.Glu2036Asp)
c.6105G>T (p.Glu2035Asp)
c.5955G>T (p.Glu1985Asp)
5g.128300875C>GCA360766414FBN2n.2892G>C
n.2811G>C
c.6108G>C (p.Glu2036Asp)
c.6105G>C (p.Glu2035Asp)
c.5955G>C (p.Glu1985Asp)
5g.128300875C>TCA446309249FBN2n.2892G>A
n.2811G>A
c.6108G>A (p.Glu2036=)
c.6105G>A (p.Glu2035=)
c.5955G>A (p.Glu1985=)
 gnomAD v4
5g.128300876T>ACA360766418FBN2n.2891A>T
n.2810A>T
c.6107A>T (p.Glu2036Val)
c.6104A>T (p.Glu2035Val)
c.5954A>T (p.Glu1985Val)
5g.128300876T>CCA360766419FBN2n.2891A>G
n.2810A>G
c.6107A>G (p.Glu2036Gly)
c.6104A>G (p.Glu2035Gly)
c.5954A>G (p.Glu1985Gly)
5g.128300876T>GCA360766421FBN2n.2891A>C
n.2810A>C
c.6107A>C (p.Glu2036Ala)
c.6104A>C (p.Glu2035Ala)
c.5954A>C (p.Glu1985Ala)
5g.128300877C>ACA360766423FBN2n.2890G>T
n.2809G>T
c.6106G>T (p.Glu2036Ter)
c.6103G>T (p.Glu2035Ter)
c.5953G>T (p.Glu1985Ter)
5g.128300877C>GCA360766425FBN2n.2890G>C
n.2809G>C
c.6106G>C (p.Glu2036Gln)
c.6103G>C (p.Glu2035Gln)
c.5953G>C (p.Glu1985Gln)
5g.128300877C>TCA360766426FBN2n.2890G>A
n.2809G>A
c.6106G>A (p.Glu2036Lys)
c.6103G>A (p.Glu2035Lys)
c.5953G>A (p.Glu1985Lys)
5g.128300878C>ACA360766428FBN2n.2889G>T
n.2808G>T
c.6105G>T (p.Leu2035Phe)
c.6102G>T (p.Leu2034Phe)
c.5952G>T (p.Leu1984Phe)
5g.128300878C>GCA360766430FBN2n.2889G>C
n.2808G>C
c.6105G>C (p.Leu2035Phe)
c.6102G>C (p.Leu2034Phe)
c.5952G>C (p.Leu1984Phe)
 ClinVar
5g.128300878C>TCA446309252FBN2n.2889G>A
n.2808G>A
c.6105G>A (p.Leu2035=)
c.6102G>A (p.Leu2034=)
c.5952G>A (p.Leu1984=)
 COSMIC COSMIC
5g.128300879A=CA1581253476FBN2n.2888T=
n.2807T=
c.6104T= (p.Leu2035=)
c.6101T= (p.Leu2034=)
c.5951T= (p.Leu1984=)
5g.128300879A>CCA360766431FBN2n.2888T>G
n.2807T>G
c.6104T>G (p.Leu2035Trp)
c.6101T>G (p.Leu2034Trp)
c.5951T>G (p.Leu1984Trp)
5g.128300879A>GCA3394500FBN2n.2888T>C
n.2807T>C
c.6104T>C (p.Leu2035Ser)
c.6101T>C (p.Leu2034Ser)
c.5951T>C (p.Leu1984Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128300879A>TCA360766434FBN2n.2888T>A
n.2807T>A
c.6104T>A (p.Leu2035Ter)
c.6101T>A (p.Leu2034Ter)
c.5951T>A (p.Leu1984Ter)
5g.128300880A>CCA360766438FBN2n.2887T>G
n.2806T>G
c.6103T>G (p.Leu2035Val)
c.6100T>G (p.Leu2034Val)
c.5950T>G (p.Leu1984Val)
5g.128300880A>GCA446309253FBN2n.2887T>C
n.2806T>C
c.6103T>C (p.Leu2035=)
c.6100T>C (p.Leu2034=)
c.5950T>C (p.Leu1984=)
5g.128300880A>TCA360766437FBN2n.2887T>A
n.2806T>A
c.6103T>A (p.Leu2035Met)
c.6100T>A (p.Leu2034Met)
c.5950T>A (p.Leu1984Met)
5g.128300881A>CCA360766440FBN2n.2886T>G
n.2805T>G
c.6102T>G (p.Asn2034Lys)
c.6099T>G (p.Asn2033Lys)
c.5949T>G (p.Asn1983Lys)
5g.128300881A>GCA446309255FBN2n.2886T>C
n.2805T>C
c.6102T>C (p.Asn2034=)
c.6099T>C (p.Asn2033=)
c.5949T>C (p.Asn1983=)
5g.128300881A>TCA360766442FBN2n.2886T>A
n.2805T>A
c.6102T>A (p.Asn2034Lys)
c.6099T>A (p.Asn2033Lys)
c.5949T>A (p.Asn1983Lys)
5g.128300882T>ACA360766444FBN2n.2885A>T
n.2804A>T
c.6101A>T (p.Asn2034Ile)
c.6098A>T (p.Asn2033Ile)
c.5948A>T (p.Asn1983Ile)
5g.128300882T>CCA360766446FBN2n.2885A>G
n.2804A>G
c.6101A>G (p.Asn2034Ser)
c.6098A>G (p.Asn2033Ser)
c.5948A>G (p.Asn1983Ser)
5g.128300882T>GCA360766447FBN2n.2885A>C
n.2804A>C
c.6101A>C (p.Asn2034Thr)
c.6098A>C (p.Asn2033Thr)
c.5948A>C (p.Asn1983Thr)
5g.128300883T>ACA360766449FBN2n.2884A>T
n.2803A>T
c.6100A>T (p.Asn2034Tyr)
c.6097A>T (p.Asn2033Tyr)
c.5947A>T (p.Asn1983Tyr)
5g.128300883T>CCA360766451FBN2n.2884A>G
n.2803A>G
c.6100A>G (p.Asn2034Asp)
c.6097A>G (p.Asn2033Asp)
c.5947A>G (p.Asn1983Asp)
5g.128300883T>GCA360766453FBN2n.2884A>C
n.2803A>C
c.6100A>C (p.Asn2034His)
c.6097A>C (p.Asn2033His)
c.5947A>C (p.Asn1983His)
5g.128300884C>ACA360766455FBN2n.2883G>T
n.2802G>T
c.6099G>T (p.Gln2033His)
c.6096G>T (p.Gln2032His)
c.5946G>T (p.Gln1982His)
5g.128300884C>GCA360766457FBN2n.2883G>C
n.2802G>C
c.6099G>C (p.Gln2033His)
c.6096G>C (p.Gln2032His)
c.5946G>C (p.Gln1982His)
5g.128300884C>TCA446309256FBN2n.2883G>A
n.2802G>A
c.6099G>A (p.Gln2033=)
c.6096G>A (p.Gln2032=)
c.5946G>A (p.Gln1982=)
5g.128300885T>ACA360766460FBN2n.2882A>T
n.2801A>T
c.6098A>T (p.Gln2033Leu)
c.6095A>T (p.Gln2032Leu)
c.5945A>T (p.Gln1982Leu)
5g.128300885T>CCA360766461FBN2n.2882A>G
n.2801A>G
c.6098A>G (p.Gln2033Arg)
c.6095A>G (p.Gln2032Arg)
c.5945A>G (p.Gln1982Arg)
5g.128300885T>GCA360766463FBN2n.2882A>C
n.2801A>C
c.6098A>C (p.Gln2033Pro)
c.6095A>C (p.Gln2032Pro)
c.5945A>C (p.Gln1982Pro)
5g.128300886G>ACA360766468FBN2n.2881C>T
n.2800C>T
c.6097C>T (p.Gln2033Ter)
c.6094C>T (p.Gln2032Ter)
c.5944C>T (p.Gln1982Ter)
5g.128300886G>CCA360766466FBN2n.2881C>G
n.2800C>G
c.6097C>G (p.Gln2033Glu)
c.6094C>G (p.Gln2032Glu)
c.5944C>G (p.Gln1982Glu)
5g.128300886G>TCA360766465FBN2n.2881C>A
n.2800C>A
c.6097C>A (p.Gln2033Lys)
c.6094C>A (p.Gln2032Lys)
c.5944C>A (p.Gln1982Lys)
5g.128300887A=CA1581253477FBN2n.2880T=
n.2799T=
c.6096T= (p.Cys2032=)
c.6093T= (p.Cys2031=)
c.5943T= (p.Cys1981=)
5g.128300887A>CCA360766470FBN2n.2880T>G
n.2799T>G
c.6096T>G (p.Cys2032Trp)
c.6093T>G (p.Cys2031Trp)
c.5943T>G (p.Cys1981Trp)
5g.128300887A>GCA3394501FBN2n.2880T>C
n.2799T>C
c.6096T>C (p.Cys2032=)
c.6093T>C (p.Cys2031=)
c.5943T>C (p.Cys1981=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128300887A>TCA360766474FBN2n.2880T>A
n.2799T>A
c.6096T>A (p.Cys2032Ter)
c.6093T>A (p.Cys2031Ter)
c.5943T>A (p.Cys1981Ter)
5g.128300888C>ACA360766476FBN2n.2879G>T
n.2798G>T
c.6095G>T (p.Cys2032Phe)
c.6092G>T (p.Cys2031Phe)
c.5942G>T (p.Cys1981Phe)
5g.128300888C>GCA360766478FBN2n.2879G>C
n.2798G>C
c.6095G>C (p.Cys2032Ser)
c.6092G>C (p.Cys2031Ser)
c.5942G>C (p.Cys1981Ser)
5g.128300888C>TCA360766480FBN2n.2879G>A
n.2798G>A
c.6095G>A (p.Cys2032Tyr)
c.6092G>A (p.Cys2031Tyr)
c.5942G>A (p.Cys1981Tyr)
 gnomAD v4
5g.128300889A>CCA360766486FBN2n.2878T>G
n.2797T>G
c.6094T>G (p.Cys2032Gly)
c.6091T>G (p.Cys2031Gly)
c.5941T>G (p.Cys1981Gly)
 gnomAD v4
5g.128300889A>GCA360766484FBN2n.2878T>C
n.2797T>C
c.6094T>C (p.Cys2032Arg)
c.6091T>C (p.Cys2031Arg)
c.5941T>C (p.Cys1981Arg)
5g.128300889A>TCA360766482FBN2n.2878T>A
n.2797T>A
c.6094T>A (p.Cys2032Ser)
c.6091T>A (p.Cys2031Ser)
c.5941T>A (p.Cys1981Ser)
5g.128300890G>ACA446309259FBN2n.2877C>T
n.2796C>T
c.6093C>T (p.Thr2031=)
c.6090C>T (p.Thr2030=)
c.5940C>T (p.Thr1980=)
5g.128300890G>CCA446309260FBN2n.2877C>G
n.2796C>G
c.6093C>G (p.Thr2031=)
c.6090C>G (p.Thr2030=)
c.5940C>G (p.Thr1980=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128300890G=CA1581253478FBN2n.2877C=
n.2796C=
c.6093C= (p.Thr2031=)
c.6090C= (p.Thr2030=)
c.5940C= (p.Thr1980=)
5g.128300890G>TCA446309261FBN2n.2877C>A
n.2796C>A
c.6093C>A (p.Thr2031=)
c.6090C>A (p.Thr2030=)
c.5940C>A (p.Thr1980=)
5g.128300891G>ACA360766488FBN2n.2876C>T
n.2795C>T
c.6092C>T (p.Thr2031Ile)
c.6089C>T (p.Thr2030Ile)
c.5939C>T (p.Thr1980Ile)
 gnomAD v4
5g.128300891G>CCA360766490FBN2n.2876C>G
n.2795C>G
c.6092C>G (p.Thr2031Ser)
c.6089C>G (p.Thr2030Ser)
c.5939C>G (p.Thr1980Ser)
5g.128300891G>TCA360766491FBN2n.2876C>A
n.2795C>A
c.6092C>A (p.Thr2031Asn)
c.6089C>A (p.Thr2030Asn)
c.5939C>A (p.Thr1980Asn)
5g.128300892T>ACA360766494FBN2n.2875A>T
n.2794A>T
c.6091A>T (p.Thr2031Ser)
c.6088A>T (p.Thr2030Ser)
c.5938A>T (p.Thr1980Ser)
5g.128300892T>CCA360766496FBN2n.2875A>G
n.2794A>G
c.6091A>G (p.Thr2031Ala)
c.6088A>G (p.Thr2030Ala)
c.5938A>G (p.Thr1980Ala)
 gnomAD v4
5g.128300892T>GCA360766498FBN2n.2875A>C
n.2794A>C
c.6091A>C (p.Thr2031Pro)
c.6088A>C (p.Thr2030Pro)
c.5938A>C (p.Thr1980Pro)
5g.128300893A>CCA446309262FBN2n.2874T>G
n.2793T>G
c.6090T>G (p.Gly2030=)
c.6087T>G (p.Gly2029=)
c.5937T>G (p.Gly1979=)
5g.128300893A>GCA446309264FBN2n.2874T>C
n.2793T>C
c.6090T>C (p.Gly2030=)
c.6087T>C (p.Gly2029=)
c.5937T>C (p.Gly1979=)
5g.128300893A>TCA446309266FBN2n.2874T>A
n.2793T>A
c.6090T>A (p.Gly2030=)
c.6087T>A (p.Gly2029=)
c.5937T>A (p.Gly1979=)
5g.128300894C>ACA360766500FBN2n.2873G>T
n.2792G>T
c.6089G>T (p.Gly2030Val)
c.6086G>T (p.Gly2029Val)
c.5936G>T (p.Gly1979Val)
 ClinVar
5g.128300894C>GCA360766503FBN2n.2873G>C
n.2792G>C
c.6089G>C (p.Gly2030Ala)
c.6086G>C (p.Gly2029Ala)
c.5936G>C (p.Gly1979Ala)
5g.128300894C>TCA360766501FBN2n.2873G>A
n.2792G>A
c.6089G>A (p.Gly2030Asp)
c.6086G>A (p.Gly2029Asp)
c.5936G>A (p.Gly1979Asp)
5g.128300895C>ACA360766504FBN2n.2872G>T
n.2791G>T
c.6088G>T (p.Gly2030Cys)
c.6085G>T (p.Gly2029Cys)
c.5935G>T (p.Gly1979Cys)
5g.128300895C>GCA360766506FBN2n.2872G>C
n.2791G>C
c.6088G>C (p.Gly2030Arg)
c.6085G>C (p.Gly2029Arg)
c.5935G>C (p.Gly1979Arg)
5g.128300895C>TCA360766507FBN2n.2872G>A
n.2791G>A
c.6088G>A (p.Gly2030Ser)
c.6085G>A (p.Gly2029Ser)
c.5935G>A (p.Gly1979Ser)
5g.128300896A=CA1581253479FBN2n.2871T=
n.2790T=
c.6087T= (p.Pro2029=)
c.6084T= (p.Pro2028=)
c.5934T= (p.Pro1978=)
5g.128300896A>CCA446309267FBN2n.2871T>G
n.2790T>G
c.6087T>G (p.Pro2029=)
c.6084T>G (p.Pro2028=)
c.5934T>G (p.Pro1978=)
 ClinVar
5g.128300896A>GCA127043257FBN2n.2871T>C
n.2790T>C
c.6087T>C (p.Pro2029=)
c.6084T>C (p.Pro2028=)
c.5934T>C (p.Pro1978=)
 dbSNP
5g.128300896A>TCA446309269FBN2n.2871T>A
n.2790T>A
c.6087T>A (p.Pro2029=)
c.6084T>A (p.Pro2028=)
c.5934T>A (p.Pro1978=)
5g.128300897G>ACA360766510FBN2n.2870C>T
n.2789C>T
c.6086C>T (p.Pro2029Leu)
c.6083C>T (p.Pro2028Leu)
c.5933C>T (p.Pro1978Leu)
 COSMIC COSMIC
5g.128300897G>CCA360766512FBN2n.2870C>G
n.2789C>G
c.6086C>G (p.Pro2029Arg)
c.6083C>G (p.Pro2028Arg)
c.5933C>G (p.Pro1978Arg)
5g.128300897G>TCA360766514FBN2n.2870C>A
n.2789C>A
c.6086C>A (p.Pro2029His)
c.6083C>A (p.Pro2028His)
c.5933C>A (p.Pro1978His)
5g.128300898G>ACA360766516FBN2n.2869C>T
n.2788C>T
c.6085C>T (p.Pro2029Ser)
c.6082C>T (p.Pro2028Ser)
c.5932C>T (p.Pro1978Ser)
5g.128300898G>CCA360766518FBN2n.2869C>G
n.2788C>G
c.6085C>G (p.Pro2029Ala)
c.6082C>G (p.Pro2028Ala)
c.5932C>G (p.Pro1978Ala)
 gnomAD v4
5g.128300898G>TCA360766519FBN2n.2869C>A
n.2788C>A
c.6085C>A (p.Pro2029Thr)
c.6082C>A (p.Pro2028Thr)
c.5932C>A (p.Pro1978Thr)
5g.128300899A>CCA446309274FBN2n.2868T>G
n.2787T>G
c.6084T>G (p.Ser2028=)
c.6081T>G (p.Ser2027=)
c.5931T>G (p.Ser1977=)
5g.128300899A>GCA446309272FBN2n.2868T>C
n.2787T>C
c.6084T>C (p.Ser2028=)
c.6081T>C (p.Ser2027=)
c.5931T>C (p.Ser1977=)
5g.128300899A>TCA446309273FBN2n.2868T>A
n.2787T>A
c.6084T>A (p.Ser2028=)
c.6081T>A (p.Ser2027=)
c.5931T>A (p.Ser1977=)
5g.128300900G>ACA360766520FBN2n.2867C>T
n.2786C>T
c.6083C>T (p.Ser2028Phe)
c.6080C>T (p.Ser2027Phe)
c.5930C>T (p.Ser1977Phe)
 dbSNP gnomAD v4 COSMIC COSMIC
5g.128300900G>CCA360766522FBN2n.2867C>G
n.2786C>G
c.6083C>G (p.Ser2028Cys)
c.6080C>G (p.Ser2027Cys)
c.5930C>G (p.Ser1977Cys)
5g.128300900G=CA1581253480FBN2n.2867C=
n.2786C=
c.6083C= (p.Ser2028=)
c.6080C= (p.Ser2027=)
c.5930C= (p.Ser1977=)
5g.128300900G>TCA360766524FBN2n.2867C>A
n.2786C>A
c.6083C>A (p.Ser2028Tyr)
c.6080C>A (p.Ser2027Tyr)
c.5930C>A (p.Ser1977Tyr)
5g.128300901A>CCA360766526FBN2n.2866T>G
n.2785T>G
c.6082T>G (p.Ser2028Ala)
c.6079T>G (p.Ser2027Ala)
c.5929T>G (p.Ser1977Ala)
5g.128300901A>GCA360766530FBN2n.2866T>C
n.2785T>C
c.6082T>C (p.Ser2028Pro)
c.6079T>C (p.Ser2027Pro)
c.5929T>C (p.Ser1977Pro)
 gnomAD v4
5g.128300901A>TCA360766528FBN2n.2866T>A
n.2785T>A
c.6082T>A (p.Ser2028Thr)
c.6079T>A (p.Ser2027Thr)
c.5929T>A (p.Ser1977Thr)
5g.128300902G>ACA446309275FBN2n.2865C>T
n.2784C>T
c.6081C>T (p.Cys2027=)
c.6078C>T (p.Cys2026=)
c.5928C>T (p.Cys1976=)
5g.128300902G>CCA360766532FBN2n.2865C>G
n.2784C>G
c.6081C>G (p.Cys2027Trp)
c.6078C>G (p.Cys2026Trp)
c.5928C>G (p.Cys1976Trp)
5g.128300902G>TCA360766534FBN2n.2865C>A
n.2784C>A
c.6081C>A (p.Cys2027Ter)
c.6078C>A (p.Cys2026Ter)
c.5928C>A (p.Cys1976Ter)
5g.128300903C>ACA360766536FBN2n.2864G>T
n.2783G>T
c.6080G>T (p.Cys2027Phe)
c.6077G>T (p.Cys2026Phe)
c.5927G>T (p.Cys1976Phe)
5g.128300903C>GCA360766537FBN2n.2864G>C
n.2783G>C
c.6080G>C (p.Cys2027Ser)
c.6077G>C (p.Cys2026Ser)
c.5927G>C (p.Cys1976Ser)
5g.128300903C>TCA360766539FBN2n.2864G>A
n.2783G>A
c.6080G>A (p.Cys2027Tyr)
c.6077G>A (p.Cys2026Tyr)
c.5927G>A (p.Cys1976Tyr)
5g.128300904A>CCA360766541FBN2n.2863T>G
n.2782T>G
c.6079T>G (p.Cys2027Gly)
c.6076T>G (p.Cys2026Gly)
c.5926T>G (p.Cys1976Gly)
5g.128300904A>GCA360766542FBN2n.2863T>C
n.2782T>C
c.6079T>C (p.Cys2027Arg)
c.6076T>C (p.Cys2026Arg)
c.5926T>C (p.Cys1976Arg)
5g.128300904A>TCA360766545FBN2n.2863T>A
n.2782T>A
c.6079T>A (p.Cys2027Ser)
c.6076T>A (p.Cys2026Ser)
c.5926T>A (p.Cys1976Ser)
5g.128300905A>CCA446309280FBN2n.2862T>G
n.2781T>G
c.6078T>G (p.Ser2026=)
c.6075T>G (p.Ser2025=)
c.5925T>G (p.Ser1975=)
5g.128300905A>GCA446309279FBN2n.2862T>C
n.2781T>C
c.6078T>C (p.Ser2026=)
c.6075T>C (p.Ser2025=)
c.5925T>C (p.Ser1975=)
 gnomAD v4
5g.128300905A>TCA446309281FBN2n.2862T>A
n.2781T>A
c.6078T>A (p.Ser2026=)
c.6075T>A (p.Ser2025=)
c.5925T>A (p.Ser1975=)
5g.128300906G>ACA3394502FBN2n.2861C>T
n.2780C>T
c.6077C>T (p.Ser2026Phe)
c.6074C>T (p.Ser2025Phe)
c.5924C>T (p.Ser1975Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128300906G>CCA360766549FBN2n.2861C>G
n.2780C>G
c.6077C>G (p.Ser2026Cys)
c.6074C>G (p.Ser2025Cys)
c.5924C>G (p.Ser1975Cys)
5g.128300906G=CA1581253481FBN2n.2861C=
n.2780C=
c.6077C= (p.Ser2026=)
c.6074C= (p.Ser2025=)
c.5924C= (p.Ser1975=)
5g.128300906G>TCA360766551FBN2n.2861C>A
n.2780C>A
c.6077C>A (p.Ser2026Tyr)
c.6074C>A (p.Ser2025Tyr)
c.5924C>A (p.Ser1975Tyr)
5g.128300907A>CCA360766557FBN2n.2860T>G
n.2779T>G
c.6076T>G (p.Ser2026Ala)
c.6073T>G (p.Ser2025Ala)
c.5923T>G (p.Ser1975Ala)
5g.128300907A>GCA360766555FBN2n.2860T>C
n.2779T>C
c.6076T>C (p.Ser2026Pro)
c.6073T>C (p.Ser2025Pro)
c.5923T>C (p.Ser1975Pro)
5g.128300907A>TCA360766553FBN2n.2860T>A
n.2779T>A
c.6076T>A (p.Ser2026Thr)
c.6073T>A (p.Ser2025Thr)
c.5923T>A (p.Ser1975Thr)
5g.128300908G>ACA446309283FBN2n.2859C>T
n.2778C>T
c.6075C>T (p.Gly2025=)
c.6072C>T (p.Gly2024=)
c.5922C>T (p.Gly1974=)
 ClinVar gnomAD v4
5g.128300908G>CCA446309284FBN2n.2859C>G
n.2778C>G
c.6075C>G (p.Gly2025=)
c.6072C>G (p.Gly2024=)
c.5922C>G (p.Gly1974=)
5g.128300908G>TCA446309285FBN2n.2859C>A
n.2778C>A
c.6075C>A (p.Gly2025=)
c.6072C>A (p.Gly2024=)
c.5922C>A (p.Gly1974=)
 gnomAD v4 COSMIC COSMIC
5g.128300909C>ACA360766559FBN2n.2858G>T
n.2777G>T
c.6074G>T (p.Gly2025Val)
c.6071G>T (p.Gly2024Val)
c.5921G>T (p.Gly1974Val)
5g.128300909C=CA1581253482FBN2n.2858G=
n.2777G=
c.6074G= (p.Gly2025=)
c.6071G= (p.Gly2024=)
c.5921G= (p.Gly1974=)
5g.128300909C>GCA360766560FBN2n.2858G>C
n.2777G>C
c.6074G>C (p.Gly2025Ala)
c.6071G>C (p.Gly2024Ala)
c.5921G>C (p.Gly1974Ala)
5g.128300909C>TCA3394503FBN2n.2858G>A
n.2777G>A
c.6074G>A (p.Gly2025Asp)
c.6071G>A (p.Gly2024Asp)
c.5921G>A (p.Gly1974Asp)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
5g.128300910C>ACA360766563FBN2n.2857G>T
n.2776G>T
c.6073G>T (p.Gly2025Cys)
c.6070G>T (p.Gly2024Cys)
c.5920G>T (p.Gly1974Cys)
5g.128300910C=CA1581253483FBN2n.2857G=
n.2776G=
c.6073G= (p.Gly2025=)
c.6070G= (p.Gly2024=)
c.5920G= (p.Gly1974=)
5g.128300910C>GCA360766564FBN2n.2857G>C
n.2776G>C
c.6073G>C (p.Gly2025Arg)
c.6070G>C (p.Gly2024Arg)
c.5920G>C (p.Gly1974Arg)
5g.128300910C>TCA320255FBN2n.2857G>A
n.2776G>A
c.6073G>A (p.Gly2025Ser)
c.6070G>A (p.Gly2024Ser)
c.5920G>A (p.Gly1974Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128300911G>ACA3394504FBN2n.2856C>T
n.2775C>T
c.6072C>T (p.Pro2024=)
c.6069C>T (p.Pro2023=)
c.5919C>T (p.Pro1973=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128300911G>CCA446309287FBN2n.2856C>G
n.2775C>G
c.6072C>G (p.Pro2024=)
c.6069C>G (p.Pro2023=)
c.5919C>G (p.Pro1973=)
5g.128300911G=CA1581253484FBN2n.2856C=
n.2775C=
c.6072C= (p.Pro2024=)
c.6069C= (p.Pro2023=)
c.5919C= (p.Pro1973=)
5g.128300911G>TCA446309288FBN2n.2856C>A
n.2775C>A
c.6072C>A (p.Pro2024=)
c.6069C>A (p.Pro2023=)
c.5919C>A (p.Pro1973=)
5g.128300912G>ACA360766568FBN2n.2855C>T
n.2774C>T
c.6071C>T (p.Pro2024Leu)
c.6068C>T (p.Pro2023Leu)
c.5918C>T (p.Pro1973Leu)
 COSMIC COSMIC
5g.128300912G>CCA360766569FBN2n.2855C>G
n.2774C>G
c.6071C>G (p.Pro2024Arg)
c.6068C>G (p.Pro2023Arg)
c.5918C>G (p.Pro1973Arg)
5g.128300912G=CA1581253485FBN2n.2855C=
n.2774C=
c.6071C= (p.Pro2024=)
c.6068C= (p.Pro2023=)
c.5918C= (p.Pro1973=)
5g.128300912G>TCA3394505FBN2n.2855C>A
n.2774C>A
c.6071C>A (p.Pro2024His)
c.6068C>A (p.Pro2023His)
c.5918C>A (p.Pro1973His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.128300913G>ACA360766572FBN2n.2854C>T
n.2773C>T
c.6070C>T (p.Pro2024Ser)
c.6067C>T (p.Pro2023Ser)
c.5917C>T (p.Pro1973Ser)
5g.128300913G>CCA360766573FBN2n.2854C>G
n.2773C>G
c.6070C>G (p.Pro2024Ala)
c.6067C>G (p.Pro2023Ala)
c.5917C>G (p.Pro1973Ala)
5g.128300913G>TCA360766574FBN2n.2854C>A
n.2773C>A
c.6070C>A (p.Pro2024Thr)
c.6067C>A (p.Pro2023Thr)
c.5917C>A (p.Pro1973Thr)
5g.128300914A>CCA446309289FBN2n.2853T>G
n.2772T>G
c.6069T>G (p.Leu2023=)
c.6066T>G (p.Leu2022=)
c.5916T>G (p.Leu1972=)
5g.128300914A>GCA446309290FBN2n.2853T>C
n.2772T>C
c.6069T>C (p.Leu2023=)
c.6066T>C (p.Leu2022=)
c.5916T>C (p.Leu1972=)
5g.128300914A>TCA446309291FBN2n.2853T>A
n.2772T>A
c.6069T>A (p.Leu2023=)
c.6066T>A (p.Leu2022=)
c.5916T>A (p.Leu1972=)
5g.128300915A>CCA360766578FBN2n.2852T>G
n.2771T>G
c.6068T>G (p.Leu2023Arg)
c.6065T>G (p.Leu2022Arg)
c.5915T>G (p.Leu1972Arg)
5g.128300915A>GCA360766581FBN2n.2852T>C
n.2771T>C
c.6068T>C (p.Leu2023Pro)
c.6065T>C (p.Leu2022Pro)
c.5915T>C (p.Leu1972Pro)
5g.128300915A>TCA360766576FBN2n.2852T>A
n.2771T>A
c.6068T>A (p.Leu2023His)
c.6065T>A (p.Leu2022His)
c.5915T>A (p.Leu1972His)
5g.128300916G>ACA360766583FBN2n.2851C>T
n.2770C>T
c.6067C>T (p.Leu2023Phe)
c.6064C>T (p.Leu2022Phe)
c.5914C>T (p.Leu1972Phe)
 gnomAD v4
5g.128300916G>CCA360766582FBN2n.2851C>G
n.2770C>G
c.6067C>G (p.Leu2023Val)
c.6064C>G (p.Leu2022Val)
c.5914C>G (p.Leu1972Val)
 dbSNP gnomAD v2 gnomAD v4
5g.128300916G=CA1581253486FBN2n.2851C=
n.2770C=
c.6067C= (p.Leu2023=)
c.6064C= (p.Leu2022=)
c.5914C= (p.Leu1972=)
5g.128300916G>TCA3394506FBN2n.2851C>A
n.2770C>A
c.6067C>A (p.Leu2023Ile)
c.6064C>A (p.Leu2022Ile)
c.5914C>A (p.Leu1972Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128300917G>ACA446309296FBN2n.2850C>T
n.2769C>T
c.6066C>T (p.Ala2022=)
c.6063C>T (p.Ala2021=)
c.5913C>T (p.Ala1971=)
 dbSNP gnomAD v3 gnomAD v4
5g.128300917G>CCA446309297FBN2n.2850C>G
n.2769C>G
c.6066C>G (p.Ala2022=)
c.6063C>G (p.Ala2021=)
c.5913C>G (p.Ala1971=)
5g.128300917G=CA1581253487FBN2n.2850C=
n.2769C=
c.6066C= (p.Ala2022=)
c.6063C= (p.Ala2021=)
c.5913C= (p.Ala1971=)
5g.128300917G>TCA446309298FBN2n.2850C>A
n.2769C>A
c.6066C>A (p.Ala2022=)
c.6063C>A (p.Ala2021=)
c.5913C>A (p.Ala1971=)
 dbSNP gnomAD v3 gnomAD v4
5g.128300918G>ACA360766584FBN2n.2849C>T
n.2768C>T
c.6065C>T (p.Ala2022Val)
c.6062C>T (p.Ala2021Val)
c.5912C>T (p.Ala1971Val)
 gnomAD v4
5g.128300918G>CCA360766586FBN2n.2849C>G
n.2768C>G
c.6065C>G (p.Ala2022Gly)
c.6062C>G (p.Ala2021Gly)
c.5912C>G (p.Ala1971Gly)
5g.128300918G>TCA360766585FBN2n.2849C>A
n.2768C>A
c.6065C>A (p.Ala2022Asp)
c.6062C>A (p.Ala2021Asp)
c.5912C>A (p.Ala1971Asp)
5g.128300919C>ACA360766587FBN2n.2848G>T
n.2767G>T
c.6064G>T (p.Ala2022Ser)
c.6061G>T (p.Ala2021Ser)
c.5911G>T (p.Ala1971Ser)
5g.128300919C=CA1581253488FBN2n.2848G=
n.2767G=
c.6064G= (p.Ala2022=)
c.6061G= (p.Ala2021=)
c.5911G= (p.Ala1971=)
5g.128300919C>GCA360766588FBN2n.2848G>C
n.2767G>C
c.6064G>C (p.Ala2022Pro)
c.6061G>C (p.Ala2021Pro)
c.5911G>C (p.Ala1971Pro)
5g.128300919C>TCA3394507FBN2n.2848G>A
n.2767G>A
c.6064G>A (p.Ala2022Thr)
c.6061G>A (p.Ala2021Thr)
c.5911G>A (p.Ala1971Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128300920G>ACA321141FBN2n.2847C>T
n.2766C>T
c.6063C>T (p.Val2021=)
c.6060C>T (p.Val2020=)
c.5910C>T (p.Val1970=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128300920G>CCA446309300FBN2n.2847C>G
n.2766C>G
c.6063C>G (p.Val2021=)
c.6060C>G (p.Val2020=)
c.5910C>G (p.Val1970=)
5g.128300920G=CA1581253489FBN2n.2847C=
n.2766C=
c.6063C= (p.Val2021=)
c.6060C= (p.Val2020=)
c.5910C= (p.Val1970=)
5g.128300920G>TCA446309301FBN2n.2847C>A
n.2766C>A
c.6063C>A (p.Val2021=)
c.6060C>A (p.Val2020=)
c.5910C>A (p.Val1970=)
 dbSNP
5g.128300921A>CCA360766589FBN2n.2846T>G
n.2765T>G
c.6062T>G (p.Val2021Gly)
c.6059T>G (p.Val2020Gly)
c.5909T>G (p.Val1970Gly)
5g.128300921A>GCA360766590FBN2n.2846T>C
n.2765T>C
c.6062T>C (p.Val2021Ala)
c.6059T>C (p.Val2020Ala)
c.5909T>C (p.Val1970Ala)
5g.128300921A>TCA360766591FBN2n.2846T>A
n.2765T>A
c.6062T>A (p.Val2021Asp)
c.6059T>A (p.Val2020Asp)
c.5909T>A (p.Val1970Asp)
5g.128300922C>ACA360766592FBN2n.2845G>T
n.2764G>T
c.6061G>T (p.Val2021Phe)
c.6058G>T (p.Val2020Phe)
c.5908G>T (p.Val1970Phe)
 gnomAD v4
5g.128300922C=CA1581253490FBN2n.2845G=
n.2764G=
c.6061G= (p.Val2021=)
c.6058G= (p.Val2020=)
c.5908G= (p.Val1970=)
5g.128300922C>GCA360766593FBN2n.2845G>C
n.2764G>C
c.6061G>C (p.Val2021Leu)
c.6058G>C (p.Val2020Leu)
c.5908G>C (p.Val1970Leu)
5g.128300922C>TCA360766594FBN2n.2845G>A
n.2764G>A
c.6061G>A (p.Val2021Ile)
c.6058G>A (p.Val2020Ile)
c.5908G>A (p.Val1970Ile)
 dbSNP gnomAD v2 gnomAD v4
5g.128300923A>CCA360766595FBN2n.2844T>G
n.2763T>G
c.6060T>G (p.Cys2020Trp)
c.6057T>G (p.Cys2019Trp)
c.5907T>G (p.Cys1969Trp)
5g.128300923A>GCA446309302FBN2n.2844T>C
n.2763T>C
c.6060T>C (p.Cys2020=)
c.6057T>C (p.Cys2019=)
c.5907T>C (p.Cys1969=)
5g.128300923A>TCA360766596FBN2n.2844T>A
n.2763T>A
c.6060T>A (p.Cys2020Ter)
c.6057T>A (p.Cys2019Ter)
c.5907T>A (p.Cys1969Ter)
5g.128300924C>ACA360766599FBN2n.2843G>T
n.2762G>T
c.6059G>T (p.Cys2020Phe)
c.6056G>T (p.Cys2019Phe)
c.5906G>T (p.Cys1969Phe)
5g.128300924C>GCA360766597FBN2n.2843G>C
n.2762G>C
c.6059G>C (p.Cys2020Ser)
c.6056G>C (p.Cys2019Ser)
c.5906G>C (p.Cys1969Ser)
5g.128300924C>TCA360766598FBN2n.2843G>A
n.2762G>A
c.6059G>A (p.Cys2020Tyr)
c.6056G>A (p.Cys2019Tyr)
c.5906G>A (p.Cys1969Tyr)
5g.128300925A>CCA360766600FBN2n.2842T>G
n.2761T>G
c.6058T>G (p.Cys2020Gly)
c.6055T>G (p.Cys2019Gly)
c.5905T>G (p.Cys1969Gly)
5g.128300925A>GCA360766601FBN2n.2842T>C
n.2761T>C
c.6058T>C (p.Cys2020Arg)
c.6055T>C (p.Cys2019Arg)
c.5905T>C (p.Cys1969Arg)
5g.128300925A>TCA360766602FBN2n.2842T>A
n.2761T>A
c.6058T>A (p.Cys2020Ser)
c.6055T>A (p.Cys2019Ser)
c.5905T>A (p.Cys1969Ser)
5g.128300926C>ACA360766603FBN2n.2841G>T
n.2760G>T
c.6057G>T (p.Glu2019Asp)
c.6054G>T (p.Glu2018Asp)
c.5904G>T (p.Glu1968Asp)
5g.128300926C=CA1581253491FBN2n.2841G=
n.2760G=
c.6057G= (p.Glu2019=)
c.6054G= (p.Glu2018=)
c.5904G= (p.Glu1968=)
5g.128300926C>GCA360766604FBN2n.2841G>C
n.2760G>C
c.6057G>C (p.Glu2019Asp)
c.6054G>C (p.Glu2018Asp)
c.5904G>C (p.Glu1968Asp)
5g.128300926C>TCA3394508FBN2n.2841G>A
n.2760G>A
c.6057G>A (p.Glu2019=)
c.6054G>A (p.Glu2018=)
c.5904G>A (p.Glu1968=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128300927T>ACA360766605FBN2n.2840A>T
n.2759A>T
c.6056A>T (p.Glu2019Val)
c.6053A>T (p.Glu2018Val)
c.5903A>T (p.Glu1968Val)
5g.128300927T>CCA360766606FBN2n.2840A>G
n.2759A>G
c.6056A>G (p.Glu2019Gly)
c.6053A>G (p.Glu2018Gly)
c.5903A>G (p.Glu1968Gly)
 ClinVar dbSNP
5g.128300927T>GCA360766607FBN2n.2840A>C
n.2759A>C
c.6056A>C (p.Glu2019Ala)
c.6053A>C (p.Glu2018Ala)
c.5903A>C (p.Glu1968Ala)
5g.128300927T=CA1581253492FBN2n.2840A=
n.2759A=
c.6056A= (p.Glu2019=)
c.6053A= (p.Glu2018=)
c.5903A= (p.Glu1968=)
5g.128300928C>ACA360766608FBN2n.2839G>T
n.2758G>T
c.6055G>T (p.Glu2019Ter)
c.6052G>T (p.Glu2018Ter)
c.5902G>T (p.Glu1968Ter)
5g.128300928C=CA1581253493FBN2n.2839G=
n.2758G=
c.6055G= (p.Glu2019=)
c.6052G= (p.Glu2018=)
c.5902G= (p.Glu1968=)
5g.128300928C>GCA360766609FBN2n.2839G>C
n.2758G>C
c.6055G>C (p.Glu2019Gln)
c.6052G>C (p.Glu2018Gln)
c.5902G>C (p.Glu1968Gln)
5g.128300928C>TCA360766610FBN2n.2839G>A
n.2758G>A
c.6055G>A (p.Glu2019Lys)
c.6052G>A (p.Glu2018Lys)
c.5902G>A (p.Glu1968Lys)
 ClinVar dbSNP gnomAD v4
5g.128300929A>CCA360766611FBN2n.2838T>G
n.2757T>G
c.6054T>G (p.Asn2018Lys)
c.6051T>G (p.Asn2017Lys)
c.5901T>G (p.Asn1967Lys)
5g.128300929A>GCA446309303FBN2n.2838T>C
n.2757T>C
c.6054T>C (p.Asn2018=)
c.6051T>C (p.Asn2017=)
c.5901T>C (p.Asn1967=)
5g.128300929A>TCA360766612FBN2n.2838T>A
n.2757T>A
c.6054T>A (p.Asn2018Lys)
c.6051T>A (p.Asn2017Lys)
c.5901T>A (p.Asn1967Lys)
5g.128300930T>ACA360766613FBN2n.2837A>T
n.2756A>T
c.6053A>T (p.Asn2018Ile)
c.6050A>T (p.Asn2017Ile)
c.5900A>T (p.Asn1967Ile)
5g.128300930T>CCA360766614FBN2n.2837A>G
n.2756A>G
c.6053A>G (p.Asn2018Ser)
c.6050A>G (p.Asn2017Ser)
c.5900A>G (p.Asn1967Ser)
 ClinVar gnomAD v4
5g.128300930T>GCA360766615FBN2n.2837A>C
n.2756A>C
c.6053A>C (p.Asn2018Thr)
c.6050A>C (p.Asn2017Thr)
c.5900A>C (p.Asn1967Thr)
5g.128300931T>ACA360766616FBN2n.2836A>T
n.2755A>T
c.6052A>T (p.Asn2018Tyr)
c.6049A>T (p.Asn2017Tyr)
c.5899A>T (p.Asn1967Tyr)
5g.128300931T>CCA360766617FBN2n.2836A>G
n.2755A>G
c.6052A>G (p.Asn2018Asp)
c.6049A>G (p.Asn2017Asp)
c.5899A>G (p.Asn1967Asp)
5g.128300931T>GCA360766618FBN2n.2836A>C
n.2755A>C
c.6052A>C (p.Asn2018His)
c.6049A>C (p.Asn2017His)
c.5899A>C (p.Asn1967His)
5g.128300932A>CCA446309304FBN2n.2835T>G
n.2754T>G
c.6051T>G (p.Thr2017=)
c.6048T>G (p.Thr2016=)
c.5898T>G (p.Thr1966=)
5g.128300932A>GCA446309306FBN2n.2835T>C
n.2754T>C
c.6051T>C (p.Thr2017=)
c.6048T>C (p.Thr2016=)
c.5898T>C (p.Thr1966=)
5g.128300932A>TCA446309305FBN2n.2835T>A
n.2754T>A
c.6051T>A (p.Thr2017=)
c.6048T>A (p.Thr2016=)
c.5898T>A (p.Thr1966=)
5g.128300933G>ACA3394509FBN2n.2834C>T
n.2753C>T
c.6050C>T (p.Thr2017Ile)
c.6047C>T (p.Thr2016Ile)
c.5897C>T (p.Thr1966Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128300933G>CCA360766619FBN2n.2834C>G
n.2753C>G
c.6050C>G (p.Thr2017Ser)
c.6047C>G (p.Thr2016Ser)
c.5897C>G (p.Thr1966Ser)
 gnomAD v4
5g.128300933G=CA1581253494FBN2n.2834C=
n.2753C=
c.6050C= (p.Thr2017=)
c.6047C= (p.Thr2016=)
c.5897C= (p.Thr1966=)
5g.128300933G>TCA360766620FBN2n.2834C>A
n.2753C>A
c.6050C>A (p.Thr2017Asn)
c.6047C>A (p.Thr2016Asn)
c.5897C>A (p.Thr1966Asn)
5g.128300934T>ACA360766621FBN2n.2833A>T
n.2752A>T
c.6049A>T (p.Thr2017Ser)
c.6046A>T (p.Thr2016Ser)
c.5896A>T (p.Thr1966Ser)
5g.128300934T>CCA127043366FBN2n.2833A>G
n.2752A>G
c.6049A>G (p.Thr2017Ala)
c.6046A>G (p.Thr2016Ala)
c.5896A>G (p.Thr1966Ala)
 dbSNP gnomAD v3 gnomAD v4
5g.128300934T>GCA360766622FBN2n.2833A>C
n.2752A>C
c.6049A>C (p.Thr2017Pro)
c.6046A>C (p.Thr2016Pro)
c.5896A>C (p.Thr1966Pro)
5g.128300934T=CA1581253495FBN2n.2833A=
n.2752A=
c.6049A= (p.Thr2017=)
c.6046A= (p.Thr2016=)
c.5896A= (p.Thr1966=)
5g.128300935G>ACA446309307FBN2n.2832C>T
n.2751C>T
c.6048C>T (p.Asp2016=)
c.6045C>T (p.Asp2015=)
c.5895C>T (p.Asp1965=)
 dbSNP gnomAD v4
5g.128300935G>CCA360766623FBN2n.2832C>G
n.2751C>G
c.6048C>G (p.Asp2016Glu)
c.6045C>G (p.Asp2015Glu)
c.5895C>G (p.Asp1965Glu)
5g.128300935G=CA1581253496FBN2n.2832C=
n.2751C=
c.6048C= (p.Asp2016=)
c.6045C= (p.Asp2015=)
c.5895C= (p.Asp1965=)
5g.128300935G>TCA360766624FBN2n.2832C>A
n.2751C>A
c.6048C>A (p.Asp2016Glu)
c.6045C>A (p.Asp2015Glu)
c.5895C>A (p.Asp1965Glu)
5g.128300936T>ACA360766625FBN2n.2831A>T
n.2750A>T
c.6047A>T (p.Asp2016Val)
c.6044A>T (p.Asp2015Val)
c.5894A>T (p.Asp1965Val)
 gnomAD v4
5g.128300936T>CCA360766627FBN2n.2831A>G
n.2750A>G
c.6047A>G (p.Asp2016Gly)
c.6044A>G (p.Asp2015Gly)
c.5894A>G (p.Asp1965Gly)
5g.128300936T>GCA360766626FBN2n.2831A>C
n.2750A>C
c.6047A>C (p.Asp2016Ala)
c.6044A>C (p.Asp2015Ala)
c.5894A>C (p.Asp1965Ala)
5g.128300937C>ACA360766628FBN2n.2831-1G>T
n.2750-1G>T
c.6047-1G>T (n.6047-1G>T)
c.6044-1G>T (n.6044-1G>T)
c.5894-1G>T (n.5894-1G>T)
5g.128300937C=CA1581253497FBN2n.2831-1G=
n.2750-1G=
c.6047-1G= (n.6047-1G=)
c.6044-1G= (n.6044-1G=)
c.5894-1G= (n.5894-1G=)
5g.128300937C>GCA360766629FBN2n.2831-1G>C
n.2750-1G>C
c.6047-1G>C (n.6047-1G>C)
c.6044-1G>C (n.6044-1G>C)
c.5894-1G>C (n.5894-1G>C)
5g.128300937C>TCA360766630FBN2n.2831-1G>A
n.2750-1G>A
c.6047-1G>A (n.6047-1G>A)
c.6044-1G>A (n.6044-1G>A)
c.5894-1G>A (n.5894-1G>A)
 dbSNP gnomAD v3 gnomAD v4
5g.128300938T>ACA360766631FBN2n.2831-2A>T
n.2750-2A>T
c.6047-2A>T (n.6047-2A>T)
c.6044-2A>T (n.6044-2A>T)
c.5894-2A>T (n.5894-2A>T)
5g.128300938T>CCA360766632FBN2n.2831-2A>G
n.2750-2A>G
c.6047-2A>G (n.6047-2A>G)
c.6044-2A>G (n.6044-2A>G)
c.5894-2A>G (n.5894-2A>G)
5g.128300938T>GCA360766633FBN2n.2831-2A>C
n.2750-2A>C
c.6047-2A>C (n.6047-2A>C)
c.6044-2A>C (n.6044-2A>C)
c.5894-2A>C (n.5894-2A>C)
5g.128300939T>GCA1581253499FBN2n.2831-3A>C
n.2750-3A>C
c.6047-3A>C (n.6047-3A>C)
c.6044-3A>C (n.6044-3A>C)
c.5894-3A>C (n.5894-3A>C)
 dbSNP
5g.128300939T=CA1581253498FBN2n.2831-3A=
n.2750-3A=
c.6047-3A= (n.6047-3A=)
c.6044-3A= (n.6044-3A=)
c.5894-3A= (n.5894-3A=)
5g.128300940T>CCA562717116FBN2n.2831-4A>G
n.2750-4A>G
c.6047-4A>G (n.6047-4A>G)
c.6044-4A>G (n.6044-4A>G)
c.5894-4A>G (n.5894-4A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.128300940T=CA1581253501FBN2n.2831-4A=
n.2750-4A=
c.6047-4A= (n.6047-4A=)
c.6044-4A= (n.6044-4A=)
c.5894-4A= (n.5894-4A=)
5g.128300940_128300951delinsTAGAGAAAAAGACA1581253500FBN2n.2831-15_2831-4delinsTCTTTTTCTCTA
n.2750-15_2750-4delinsTCTTTTTCTCTA
c.6047-15_6047-4delinsTCTTTTTCTCTA (n.6047-15_6047-4delinsTCTTTTTCTCTA)
c.6044-15_6044-4delinsTCTTTTTCTCTA (n.6044-15_6044-4delinsTCTTTTTCTCTA)
c.5894-15_5894-4delinsTCTTTTTCTCTA (n.5894-15_5894-4delinsTCTTTTTCTCTA)
5g.128300941_128300942insAACA2556331933FBN2n.2831-5_2831-4insTT
n.2750-5_2750-4insTT
c.6047-5_6047-4insTT (n.6047-5_6047-4insTT)
c.6044-5_6044-4insTT (n.6044-5_6044-4insTT)
c.5894-5_5894-4insTT (n.5894-5_5894-4insTT)
5g.128300950_128300960delCA3394510FBN2n.2831-15_2831-5del
n.2750-15_2750-5del
c.6047-15_6047-5del (n.6047-15_6047-5del)
c.6044-15_6044-5del (n.6044-15_6044-5del)
c.5894-15_5894-5del (n.5894-15_5894-5del)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128300944G>CCA2768335082FBN2n.2831-8C>G
n.2750-8C>G
c.6047-8C>G (n.6047-8C>G)
c.6044-8C>G (n.6044-8C>G)
c.5894-8C>G (n.5894-8C>G)
5g.128300944_128300945delinsGACA1581253502FBN2n.2831-9_2831-8delinsTC
n.2750-9_2750-8delinsTC
c.6047-9_6047-8delinsTC (n.6047-9_6047-8delinsTC)
c.6044-9_6044-8delinsTC (n.6044-9_6044-8delinsTC)
c.5894-9_5894-8delinsTC (n.5894-9_5894-8delinsTC)
5g.128300945A=CA1581253503FBN2n.2831-9T=
n.2750-9T=
c.6047-9T= (n.6047-9T=)
c.6044-9T= (n.6044-9T=)
c.5894-9T= (n.5894-9T=)
5g.128300945A>GCA127043385FBN2n.2831-9T>C
n.2750-9T>C
c.6047-9T>C (n.6047-9T>C)
c.6044-9T>C (n.6044-9T>C)
c.5894-9T>C (n.5894-9T>C)
 dbSNP
5g.128300949delCA803626887FBN2n.2831-9del
n.2750-9del
c.6047-9del (n.6047-9del)
c.6044-9del (n.6044-9del)
c.5894-9del (n.5894-9del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128300948A=CA1581253504FBN2n.2831-12T=
n.2750-12T=
c.6047-12T= (n.6047-12T=)
c.6044-12T= (n.6044-12T=)
c.5894-12T= (n.5894-12T=)
5g.128300948A>CCA1581253505FBN2n.2831-12T>G
n.2750-12T>G
c.6047-12T>G (n.6047-12T>G)
c.6044-12T>G (n.6044-12T>G)
c.5894-12T>G (n.5894-12T>G)
 dbSNP
5g.128300949A=CA1581253506FBN2n.2831-13T=
n.2750-13T=
c.6047-13T= (n.6047-13T=)
c.6044-13T= (n.6044-13T=)
c.5894-13T= (n.5894-13T=)
5g.128300949A>GCA3394511FBN2n.2831-13T>C
n.2750-13T>C
c.6047-13T>C (n.6047-13T>C)
c.6044-13T>C (n.6044-13T>C)
c.5894-13T>C (n.5894-13T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.128300950_128300953delCA2558107312FBN2n.2831-17_2831-14del
n.2750-17_2750-14del
c.6047-17_6047-14del (n.6047-17_6047-14del)
c.6044-17_6044-14del (n.6044-17_6044-14del)
c.5894-17_5894-14del (n.5894-17_5894-14del)
5g.128300952A=CA1581253507FBN2n.2831-16T=
n.2750-16T=
c.6047-16T= (n.6047-16T=)
c.6044-16T= (n.6044-16T=)
c.5894-16T= (n.5894-16T=)
5g.128300952A>GCA1581253508FBN2n.2831-16T>C
n.2750-16T>C
c.6047-16T>C (n.6047-16T>C)
c.6044-16T>C (n.6044-16T>C)
c.5894-16T>C (n.5894-16T>C)
 dbSNP
5g.128300953G>ACA2551673456FBN2n.2831-17C>T
n.2750-17C>T
c.6047-17C>T (n.6047-17C>T)
c.6044-17C>T (n.6044-17C>T)
c.5894-17C>T (n.5894-17C>T)
 gnomAD v4
5g.128300953G>CCA562717117FBN2n.2831-17C>G
n.2750-17C>G
c.6047-17C>G (n.6047-17C>G)
c.6044-17C>G (n.6044-17C>G)
c.5894-17C>G (n.5894-17C>G)
 dbSNP gnomAD v2 gnomAD v4
5g.128300953G=CA1581253509FBN2n.2831-17C=
n.2750-17C=
c.6047-17C= (n.6047-17C=)
c.6044-17C= (n.6044-17C=)
c.5894-17C= (n.5894-17C=)

Number of alleles fetched