Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128338001A>CCA360759082FBN2n.378T>G
n.459T>G
c.3594T>G (p.Cys1198Trp)
c.144T>G (p.Cys48Trp)
c.3495T>G (p.Cys1165Trp)
c.3591T>G (p.Cys1197Trp)
c.3441T>G (p.Cys1147Trp)
 ClinVar
5g.128338001A>GCA446310539FBN2n.378T>C
n.459T>C
c.3594T>C (p.Cys1198=)
c.144T>C (p.Cys48=)
c.3495T>C (p.Cys1165=)
c.3591T>C (p.Cys1197=)
c.3441T>C (p.Cys1147=)
 gnomAD v4
5g.128338001A>TCA360759086FBN2n.378T>A
n.459T>A
c.3594T>A (p.Cys1198Ter)
c.144T>A (p.Cys48Ter)
c.3495T>A (p.Cys1165Ter)
c.3591T>A (p.Cys1197Ter)
c.3441T>A (p.Cys1147Ter)
5g.128338002C>ACA360759092FBN2n.377G>T
n.458G>T
c.3593G>T (p.Cys1198Phe)
c.143G>T (p.Cys48Phe)
c.3494G>T (p.Cys1165Phe)
c.3590G>T (p.Cys1197Phe)
c.3440G>T (p.Cys1147Phe)
5g.128338002C=CA1581270716FBN2n.377G=
n.458G=
c.3593G= (p.Cys1198=)
c.143G= (p.Cys48=)
c.3494G= (p.Cys1165=)
c.3590G= (p.Cys1197=)
c.3440G= (p.Cys1147=)
5g.128338002C>GCA360759088FBN2n.377G>C
n.458G>C
c.3593G>C (p.Cys1198Ser)
c.143G>C (p.Cys48Ser)
c.3494G>C (p.Cys1165Ser)
c.3590G>C (p.Cys1197Ser)
c.3440G>C (p.Cys1147Ser)
5g.128338002C>TCA321818FBN2n.377G>A
n.458G>A
c.3593G>A (p.Cys1198Tyr)
c.143G>A (p.Cys48Tyr)
c.3494G>A (p.Cys1165Tyr)
c.3590G>A (p.Cys1197Tyr)
c.3440G>A (p.Cys1147Tyr)
 ClinVar dbSNP gnomAD v4
5g.128338003A=CA1581270717FBN2n.376T=
n.457T=
c.3592T= (p.Cys1198=)
c.142T= (p.Cys48=)
c.3493T= (p.Cys1165=)
c.3589T= (p.Cys1197=)
c.3439T= (p.Cys1147=)
5g.128338003A>CCA360759096FBN2n.376T>G
n.457T>G
c.3592T>G (p.Cys1198Gly)
c.142T>G (p.Cys48Gly)
c.3493T>G (p.Cys1165Gly)
c.3589T>G (p.Cys1197Gly)
c.3439T>G (p.Cys1147Gly)
5g.128338003A>GCA360759098FBN2n.376T>C
n.457T>C
c.3592T>C (p.Cys1198Arg)
c.142T>C (p.Cys48Arg)
c.3493T>C (p.Cys1165Arg)
c.3589T>C (p.Cys1197Arg)
c.3439T>C (p.Cys1147Arg)
 ClinVar dbSNP
5g.128338003A>TCA360759101FBN2n.376T>A
n.457T>A
c.3592T>A (p.Cys1198Ser)
c.142T>A (p.Cys48Ser)
c.3493T>A (p.Cys1165Ser)
c.3589T>A (p.Cys1197Ser)
c.3439T>A (p.Cys1147Ser)
5g.128338004G>ACA446310541FBN2n.375C>T
n.456C>T
c.3591C>T (p.Asp1197=)
c.141C>T (p.Asp47=)
c.3492C>T (p.Asp1164=)
c.3588C>T (p.Asp1196=)
c.3438C>T (p.Asp1146=)
 dbSNP gnomAD v2 gnomAD v4
5g.128338004G>CCA360759105FBN2n.375C>G
n.456C>G
c.3591C>G (p.Asp1197Glu)
c.141C>G (p.Asp47Glu)
c.3492C>G (p.Asp1164Glu)
c.3588C>G (p.Asp1196Glu)
c.3438C>G (p.Asp1146Glu)
5g.128338004G=CA1581270718FBN2n.375C=
n.456C=
c.3591C= (p.Asp1197=)
c.141C= (p.Asp47=)
c.3492C= (p.Asp1164=)
c.3588C= (p.Asp1196=)
c.3438C= (p.Asp1146=)
5g.128338004G>TCA360759108FBN2n.375C>A
n.456C>A
c.3591C>A (p.Asp1197Glu)
c.141C>A (p.Asp47Glu)
c.3492C>A (p.Asp1164Glu)
c.3588C>A (p.Asp1196Glu)
c.3438C>A (p.Asp1146Glu)
5g.128338005T>ACA3395195FBN2n.374A>T
n.455A>T
c.3590A>T (p.Asp1197Val)
c.140A>T (p.Asp47Val)
c.3491A>T (p.Asp1164Val)
c.3587A>T (p.Asp1196Val)
c.3437A>T (p.Asp1146Val)
 dbSNP ExAC gnomAD v4
5g.128338005T>CCA3395194FBN2n.374A>G
n.455A>G
c.3590A>G (p.Asp1197Gly)
c.140A>G (p.Asp47Gly)
c.3491A>G (p.Asp1164Gly)
c.3587A>G (p.Asp1196Gly)
c.3437A>G (p.Asp1146Gly)
 dbSNP ExAC
5g.128338005T>GCA360759115FBN2n.374A>C
n.455A>C
c.3590A>C (p.Asp1197Ala)
c.140A>C (p.Asp47Ala)
c.3491A>C (p.Asp1164Ala)
c.3587A>C (p.Asp1196Ala)
c.3437A>C (p.Asp1146Ala)
5g.128338005T=CA1581270719FBN2n.374A=
n.455A=
c.3590A= (p.Asp1197=)
c.140A= (p.Asp47=)
c.3491A= (p.Asp1164=)
c.3587A= (p.Asp1196=)
c.3437A= (p.Asp1146=)
5g.128338006C>ACA360759119FBN2n.373G>T
n.454G>T
c.3589G>T (p.Asp1197Tyr)
c.139G>T (p.Asp47Tyr)
c.3490G>T (p.Asp1164Tyr)
c.3586G>T (p.Asp1196Tyr)
c.3436G>T (p.Asp1146Tyr)
5g.128338006C>GCA360759122FBN2n.373G>C
n.454G>C
c.3589G>C (p.Asp1197His)
c.139G>C (p.Asp47His)
c.3490G>C (p.Asp1164His)
c.3586G>C (p.Asp1196His)
c.3436G>C (p.Asp1146His)
5g.128338006C>TCA360759125FBN2n.373G>A
n.454G>A
c.3589G>A (p.Asp1197Asn)
c.139G>A (p.Asp47Asn)
c.3490G>A (p.Asp1164Asn)
c.3586G>A (p.Asp1196Asn)
c.3436G>A (p.Asp1146Asn)
5g.128338007C>ACA360759128FBN2n.372G>T
n.453G>T
c.3588G>T (p.Glu1196Asp)
c.138G>T (p.Glu46Asp)
c.3489G>T (p.Glu1163Asp)
c.3585G>T (p.Glu1195Asp)
c.3435G>T (p.Glu1145Asp)
5g.128338007C=CA1581270720FBN2n.372G=
n.453G=
c.3588G= (p.Glu1196=)
c.138G= (p.Glu46=)
c.3489G= (p.Glu1163=)
c.3585G= (p.Glu1195=)
c.3435G= (p.Glu1145=)
5g.128338007C>GCA360759131FBN2n.372G>C
n.453G>C
c.3588G>C (p.Glu1196Asp)
c.138G>C (p.Glu46Asp)
c.3489G>C (p.Glu1163Asp)
c.3585G>C (p.Glu1195Asp)
c.3435G>C (p.Glu1145Asp)
5g.128338007C>TCA3395196FBN2n.372G>A
n.453G>A
c.3588G>A (p.Glu1196=)
c.138G>A (p.Glu46=)
c.3489G>A (p.Glu1163=)
c.3585G>A (p.Glu1195=)
c.3435G>A (p.Glu1145=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128338008T>ACA360759136FBN2n.371A>T
n.452A>T
c.3587A>T (p.Glu1196Val)
c.137A>T (p.Glu46Val)
c.3488A>T (p.Glu1163Val)
c.3584A>T (p.Glu1195Val)
c.3434A>T (p.Glu1145Val)
5g.128338008T>CCA360759139FBN2n.371A>G
n.452A>G
c.3587A>G (p.Glu1196Gly)
c.137A>G (p.Glu46Gly)
c.3488A>G (p.Glu1163Gly)
c.3584A>G (p.Glu1195Gly)
c.3434A>G (p.Glu1145Gly)
5g.128338008T>GCA360759144FBN2n.371A>C
n.452A>C
c.3587A>C (p.Glu1196Ala)
c.137A>C (p.Glu46Ala)
c.3488A>C (p.Glu1163Ala)
c.3584A>C (p.Glu1195Ala)
c.3434A>C (p.Glu1145Ala)
5g.128338009C>ACA360759147FBN2n.370G>T
n.451G>T
c.3586G>T (p.Glu1196Ter)
c.136G>T (p.Glu46Ter)
c.3487G>T (p.Glu1163Ter)
c.3583G>T (p.Glu1195Ter)
c.3433G>T (p.Glu1145Ter)
5g.128338009C>GCA360759149FBN2n.370G>C
n.451G>C
c.3586G>C (p.Glu1196Gln)
c.136G>C (p.Glu46Gln)
c.3487G>C (p.Glu1163Gln)
c.3583G>C (p.Glu1195Gln)
c.3433G>C (p.Glu1145Gln)
5g.128338009C>TCA360759150FBN2n.370G>A
n.451G>A
c.3586G>A (p.Glu1196Lys)
c.136G>A (p.Glu46Lys)
c.3487G>A (p.Glu1163Lys)
c.3583G>A (p.Glu1195Lys)
c.3433G>A (p.Glu1145Lys)
5g.128338010A>CCA446310544FBN2n.369T>G
n.450T>G
c.3585T>G (p.Arg1195=)
c.135T>G (p.Arg45=)
c.3486T>G (p.Arg1162=)
c.3582T>G (p.Arg1194=)
c.3432T>G (p.Arg1144=)
5g.128338010A>GCA446310545FBN2n.369T>C
n.450T>C
c.3585T>C (p.Arg1195=)
c.135T>C (p.Arg45=)
c.3486T>C (p.Arg1162=)
c.3582T>C (p.Arg1194=)
c.3432T>C (p.Arg1144=)
 gnomAD v4
5g.128338010A>TCA446310546FBN2n.369T>A
n.450T>A
c.3585T>A (p.Arg1195=)
c.135T>A (p.Arg45=)
c.3486T>A (p.Arg1162=)
c.3582T>A (p.Arg1194=)
c.3432T>A (p.Arg1144=)
5g.128338011C>ACA360759158FBN2n.368G>T
n.449G>T
c.3584G>T (p.Arg1195Leu)
c.134G>T (p.Arg45Leu)
c.3485G>T (p.Arg1162Leu)
c.3581G>T (p.Arg1194Leu)
c.3431G>T (p.Arg1144Leu)
 gnomAD v4 COSMIC COSMIC
5g.128338011C=CA1581270721FBN2n.368G=
n.449G=
c.3584G= (p.Arg1195=)
c.134G= (p.Arg45=)
c.3485G= (p.Arg1162=)
c.3581G= (p.Arg1194=)
c.3431G= (p.Arg1144=)
5g.128338011C>GCA360759161FBN2n.368G>C
n.449G>C
c.3584G>C (p.Arg1195Pro)
c.134G>C (p.Arg45Pro)
c.3485G>C (p.Arg1162Pro)
c.3581G>C (p.Arg1194Pro)
c.3431G>C (p.Arg1144Pro)
 ClinVar gnomAD v4
5g.128338011C>TCA3395197FBN2n.368G>A
n.449G>A
c.3584G>A (p.Arg1195His)
c.134G>A (p.Arg45His)
c.3485G>A (p.Arg1162His)
c.3581G>A (p.Arg1194His)
c.3431G>A (p.Arg1144His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128338012G>ACA325002FBN2n.367C>T
n.448C>T
c.3583C>T (p.Arg1195Cys)
c.133C>T (p.Arg45Cys)
c.3484C>T (p.Arg1162Cys)
c.3580C>T (p.Arg1194Cys)
c.3430C>T (p.Arg1144Cys)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
5g.128338012G>CCA360759162FBN2n.367C>G
n.448C>G
c.3583C>G (p.Arg1195Gly)
c.133C>G (p.Arg45Gly)
c.3484C>G (p.Arg1162Gly)
c.3580C>G (p.Arg1194Gly)
c.3430C>G (p.Arg1144Gly)
5g.128338012G=CA1581270722FBN2n.367C=
n.448C=
c.3583C= (p.Arg1195=)
c.133C= (p.Arg45=)
c.3484C= (p.Arg1162=)
c.3580C= (p.Arg1194=)
c.3430C= (p.Arg1144=)
5g.128338012G>TCA360759164FBN2n.367C>A
n.448C>A
c.3583C>A (p.Arg1195Ser)
c.133C>A (p.Arg45Ser)
c.3484C>A (p.Arg1162Ser)
c.3580C>A (p.Arg1194Ser)
c.3430C>A (p.Arg1144Ser)
5g.128338013G>ACA3395198FBN2n.366C>T
n.447C>T
c.3582C>T (p.Ser1194=)
c.132C>T (p.Ser44=)
c.3483C>T (p.Ser1161=)
c.3579C>T (p.Ser1193=)
c.3429C>T (p.Ser1143=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.128338013G>CCA446310550FBN2n.366C>G
n.447C>G
c.3582C>G (p.Ser1194=)
c.132C>G (p.Ser44=)
c.3483C>G (p.Ser1161=)
c.3579C>G (p.Ser1193=)
c.3429C>G (p.Ser1143=)
5g.128338013G=CA1581270723FBN2n.366C=
n.447C=
c.3582C= (p.Ser1194=)
c.132C= (p.Ser44=)
c.3483C= (p.Ser1161=)
c.3579C= (p.Ser1193=)
c.3429C= (p.Ser1143=)
5g.128338013G>TCA446310551FBN2n.366C>A
n.447C>A
c.3582C>A (p.Ser1194=)
c.132C>A (p.Ser44=)
c.3483C>A (p.Ser1161=)
c.3579C>A (p.Ser1193=)
c.3429C>A (p.Ser1143=)
 dbSNP gnomAD v2 gnomAD v4
5g.128338014G>ACA127014877FBN2n.365C>T
n.446C>T
c.3581C>T (p.Ser1194Phe)
c.131C>T (p.Ser44Phe)
c.3482C>T (p.Ser1161Phe)
c.3578C>T (p.Ser1193Phe)
c.3428C>T (p.Ser1143Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128338014G>CCA360759172FBN2n.365C>G
n.446C>G
c.3581C>G (p.Ser1194Cys)
c.131C>G (p.Ser44Cys)
c.3482C>G (p.Ser1161Cys)
c.3578C>G (p.Ser1193Cys)
c.3428C>G (p.Ser1143Cys)
5g.128338014G=CA1581270724FBN2n.365C=
n.446C=
c.3581C= (p.Ser1194=)
c.131C= (p.Ser44=)
c.3482C= (p.Ser1161=)
c.3578C= (p.Ser1193=)
c.3428C= (p.Ser1143=)
5g.128338014G>TCA360759174FBN2n.365C>A
n.446C>A
c.3581C>A (p.Ser1194Tyr)
c.131C>A (p.Ser44Tyr)
c.3482C>A (p.Ser1161Tyr)
c.3578C>A (p.Ser1193Tyr)
c.3428C>A (p.Ser1143Tyr)
 COSMIC COSMIC
5g.128338015A>CCA360759175FBN2n.364T>G
n.445T>G
c.3580T>G (p.Ser1194Ala)
c.130T>G (p.Ser44Ala)
c.3481T>G (p.Ser1161Ala)
c.3577T>G (p.Ser1193Ala)
c.3427T>G (p.Ser1143Ala)
5g.128338015A>GCA360759176FBN2n.364T>C
n.445T>C
c.3580T>C (p.Ser1194Pro)
c.130T>C (p.Ser44Pro)
c.3481T>C (p.Ser1161Pro)
c.3577T>C (p.Ser1193Pro)
c.3427T>C (p.Ser1143Pro)
5g.128338015A>TCA360759177FBN2n.364T>A
n.445T>A
c.3580T>A (p.Ser1194Thr)
c.130T>A (p.Ser44Thr)
c.3481T>A (p.Ser1161Thr)
c.3577T>A (p.Ser1193Thr)
c.3427T>A (p.Ser1143Thr)
 gnomAD v4
5g.128338016T>ACA446310553FBN2n.363A>T
n.444A>T
c.3579A>T (p.Pro1193=)
c.129A>T (p.Pro43=)
c.3480A>T (p.Pro1160=)
c.3576A>T (p.Pro1192=)
c.3426A>T (p.Pro1142=)
5g.128338016T>CCA446310554FBN2n.363A>G
n.444A>G
c.3579A>G (p.Pro1193=)
c.129A>G (p.Pro43=)
c.3480A>G (p.Pro1160=)
c.3576A>G (p.Pro1192=)
c.3426A>G (p.Pro1142=)
5g.128338016T>GCA446310555FBN2n.363A>C
n.444A>C
c.3579A>C (p.Pro1193=)
c.129A>C (p.Pro43=)
c.3480A>C (p.Pro1160=)
c.3576A>C (p.Pro1192=)
c.3426A>C (p.Pro1142=)
5g.128338017G>ACA360759179FBN2n.362C>T
n.443C>T
c.3578C>T (p.Pro1193Leu)
c.128C>T (p.Pro43Leu)
c.3479C>T (p.Pro1160Leu)
c.3575C>T (p.Pro1192Leu)
c.3425C>T (p.Pro1142Leu)
5g.128338017G>CCA360759180FBN2n.362C>G
n.443C>G
c.3578C>G (p.Pro1193Arg)
c.128C>G (p.Pro43Arg)
c.3479C>G (p.Pro1160Arg)
c.3575C>G (p.Pro1192Arg)
c.3425C>G (p.Pro1142Arg)
5g.128338017G>TCA360759183FBN2n.362C>A
n.443C>A
c.3578C>A (p.Pro1193Gln)
c.128C>A (p.Pro43Gln)
c.3479C>A (p.Pro1160Gln)
c.3575C>A (p.Pro1192Gln)
c.3425C>A (p.Pro1142Gln)
5g.128338018G>ACA3395199FBN2n.361C>T
n.442C>T
c.3577C>T (p.Pro1193Ser)
c.127C>T (p.Pro43Ser)
c.3478C>T (p.Pro1160Ser)
c.3574C>T (p.Pro1192Ser)
c.3424C>T (p.Pro1142Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128338018G>CCA360759190FBN2n.361C>G
n.442C>G
c.3577C>G (p.Pro1193Ala)
c.127C>G (p.Pro43Ala)
c.3478C>G (p.Pro1160Ala)
c.3574C>G (p.Pro1192Ala)
c.3424C>G (p.Pro1142Ala)
5g.128338018G=CA1581270725FBN2n.361C=
n.442C=
c.3577C= (p.Pro1193=)
c.127C= (p.Pro43=)
c.3478C= (p.Pro1160=)
c.3574C= (p.Pro1192=)
c.3424C= (p.Pro1142=)
5g.128338018G>TCA360759186FBN2n.361C>A
n.442C>A
c.3577C>A (p.Pro1193Thr)
c.127C>A (p.Pro43Thr)
c.3478C>A (p.Pro1160Thr)
c.3574C>A (p.Pro1192Thr)
c.3424C>A (p.Pro1142Thr)
5g.128338019T>ACA446310561FBN2n.360A>T
n.441A>T
c.3576A>T (p.Ser1192=)
c.126A>T (p.Ser42=)
c.3477A>T (p.Ser1159=)
c.3573A>T (p.Ser1191=)
c.3423A>T (p.Ser1141=)
5g.128338019T>CCA446310560FBN2n.360A>G
n.441A>G
c.3576A>G (p.Ser1192=)
c.126A>G (p.Ser42=)
c.3477A>G (p.Ser1159=)
c.3573A>G (p.Ser1191=)
c.3423A>G (p.Ser1141=)
 gnomAD v4
5g.128338019T>GCA446310559FBN2n.360A>C
n.441A>C
c.3576A>C (p.Ser1192=)
c.126A>C (p.Ser42=)
c.3477A>C (p.Ser1159=)
c.3573A>C (p.Ser1191=)
c.3423A>C (p.Ser1141=)
5g.128338020G>ACA360759192FBN2n.359C>T
n.440C>T
c.3575C>T (p.Ser1192Leu)
c.125C>T (p.Ser42Leu)
c.3476C>T (p.Ser1159Leu)
c.3572C>T (p.Ser1191Leu)
c.3422C>T (p.Ser1141Leu)
 dbSNP gnomAD v4
5g.128338020G>CCA360759196FBN2n.359C>G
n.440C>G
c.3575C>G (p.Ser1192Ter)
c.125C>G (p.Ser42Ter)
c.3476C>G (p.Ser1159Ter)
c.3572C>G (p.Ser1191Ter)
c.3422C>G (p.Ser1141Ter)
5g.128338020G=CA1581270726FBN2n.359C=
n.440C=
c.3575C= (p.Ser1192=)
c.125C= (p.Ser42=)
c.3476C= (p.Ser1159=)
c.3572C= (p.Ser1191=)
c.3422C= (p.Ser1141=)
5g.128338020G>TCA360759197FBN2n.359C>A
n.440C>A
c.3575C>A (p.Ser1192Ter)
c.125C>A (p.Ser42Ter)
c.3476C>A (p.Ser1159Ter)
c.3572C>A (p.Ser1191Ter)
c.3422C>A (p.Ser1141Ter)
5g.128338021A>CCA360759200FBN2n.358T>G
n.439T>G
c.3574T>G (p.Ser1192Ala)
c.124T>G (p.Ser42Ala)
c.3475T>G (p.Ser1159Ala)
c.3571T>G (p.Ser1191Ala)
c.3421T>G (p.Ser1141Ala)
5g.128338021A>GCA360759201FBN2n.358T>C
n.439T>C
c.3574T>C (p.Ser1192Pro)
c.124T>C (p.Ser42Pro)
c.3475T>C (p.Ser1159Pro)
c.3571T>C (p.Ser1191Pro)
c.3421T>C (p.Ser1141Pro)
5g.128338021A>TCA360759203FBN2n.358T>A
n.439T>A
c.3574T>A (p.Ser1192Thr)
c.124T>A (p.Ser42Thr)
c.3475T>A (p.Ser1159Thr)
c.3571T>A (p.Ser1191Thr)
c.3421T>A (p.Ser1141Thr)
5g.128338022C>ACA446310565FBN2n.357G>T
n.438G>T
c.3573G>T (p.Leu1191=)
c.123G>T (p.Leu41=)
c.3474G>T (p.Leu1158=)
c.3570G>T (p.Leu1190=)
c.3420G>T (p.Leu1140=)
5g.128338022C>GCA446310564FBN2n.357G>C
n.438G>C
c.3573G>C (p.Leu1191=)
c.123G>C (p.Leu41=)
c.3474G>C (p.Leu1158=)
c.3570G>C (p.Leu1190=)
c.3420G>C (p.Leu1140=)
5g.128338022C>TCA446310563FBN2n.357G>A
n.438G>A
c.3573G>A (p.Leu1191=)
c.123G>A (p.Leu41=)
c.3474G>A (p.Leu1158=)
c.3570G>A (p.Leu1190=)
c.3420G>A (p.Leu1140=)
 gnomAD v4
5g.128338023A>CCA360759207FBN2n.356T>G
n.437T>G
c.3572T>G (p.Leu1191Arg)
c.122T>G (p.Leu41Arg)
c.3473T>G (p.Leu1158Arg)
c.3569T>G (p.Leu1190Arg)
c.3419T>G (p.Leu1140Arg)
5g.128338023A>GCA360759215FBN2n.356T>C
n.437T>C
c.3572T>C (p.Leu1191Pro)
c.122T>C (p.Leu41Pro)
c.3473T>C (p.Leu1158Pro)
c.3569T>C (p.Leu1190Pro)
c.3419T>C (p.Leu1140Pro)
5g.128338023A>TCA360759213FBN2n.356T>A
n.437T>A
c.3572T>A (p.Leu1191Gln)
c.122T>A (p.Leu41Gln)
c.3473T>A (p.Leu1158Gln)
c.3569T>A (p.Leu1190Gln)
c.3419T>A (p.Leu1140Gln)
5g.128338024G>ACA446310566FBN2n.355C>T
n.436C>T
c.3571C>T (p.Leu1191=)
c.121C>T (p.Leu41=)
c.3472C>T (p.Leu1158=)
c.3568C>T (p.Leu1190=)
c.3418C>T (p.Leu1140=)
5g.128338024G>CCA360759218FBN2n.355C>G
n.436C>G
c.3571C>G (p.Leu1191Val)
c.121C>G (p.Leu41Val)
c.3472C>G (p.Leu1158Val)
c.3568C>G (p.Leu1190Val)
c.3418C>G (p.Leu1140Val)
5g.128338024G>TCA360759221FBN2n.355C>A
n.436C>A
c.3571C>A (p.Leu1191Met)
c.121C>A (p.Leu41Met)
c.3472C>A (p.Leu1158Met)
c.3568C>A (p.Leu1190Met)
c.3418C>A (p.Leu1140Met)
5g.128338025C>ACA360759223FBN2n.354G>T
n.435G>T
c.3570G>T (p.Glu1190Asp)
c.120G>T (p.Glu40Asp)
c.3471G>T (p.Glu1157Asp)
c.3567G>T (p.Glu1189Asp)
c.3417G>T (p.Glu1139Asp)
5g.128338025C>GCA360759228FBN2n.354G>C
n.435G>C
c.3570G>C (p.Glu1190Asp)
c.120G>C (p.Glu40Asp)
c.3471G>C (p.Glu1157Asp)
c.3567G>C (p.Glu1189Asp)
c.3417G>C (p.Glu1139Asp)
5g.128338025C>TCA446310570FBN2n.354G>A
n.435G>A
c.3570G>A (p.Glu1190=)
c.120G>A (p.Glu40=)
c.3471G>A (p.Glu1157=)
c.3567G>A (p.Glu1189=)
c.3417G>A (p.Glu1139=)
 ClinVar dbSNP
5g.128338026T>ACA360759236FBN2n.353A>T
n.434A>T
c.3569A>T (p.Glu1190Val)
c.119A>T (p.Glu40Val)
c.3470A>T (p.Glu1157Val)
c.3566A>T (p.Glu1189Val)
c.3416A>T (p.Glu1139Val)
5g.128338026T>CCA360759234FBN2n.353A>G
n.434A>G
c.3569A>G (p.Glu1190Gly)
c.119A>G (p.Glu40Gly)
c.3470A>G (p.Glu1157Gly)
c.3566A>G (p.Glu1189Gly)
c.3416A>G (p.Glu1139Gly)
5g.128338026T>GCA360759231FBN2n.353A>C
n.434A>C
c.3569A>C (p.Glu1190Ala)
c.119A>C (p.Glu40Ala)
c.3470A>C (p.Glu1157Ala)
c.3566A>C (p.Glu1189Ala)
c.3416A>C (p.Glu1139Ala)
5g.128338027C>ACA360759240FBN2n.352G>T
n.433G>T
c.3568G>T (p.Glu1190Ter)
c.118G>T (p.Glu40Ter)
c.3469G>T (p.Glu1157Ter)
c.3565G>T (p.Glu1189Ter)
c.3415G>T (p.Glu1139Ter)
5g.128338027C=CA1581270727FBN2n.352G=
n.433G=
c.3568G= (p.Glu1190=)
c.118G= (p.Glu40=)
c.3469G= (p.Glu1157=)
c.3565G= (p.Glu1189=)
c.3415G= (p.Glu1139=)
5g.128338027C>GCA360759243FBN2n.352G>C
n.433G>C
c.3568G>C (p.Glu1190Gln)
c.118G>C (p.Glu40Gln)
c.3469G>C (p.Glu1157Gln)
c.3565G>C (p.Glu1189Gln)
c.3415G>C (p.Glu1139Gln)
5g.128338027C>TCA3395200FBN2n.352G>A
n.433G>A
c.3568G>A (p.Glu1190Lys)
c.118G>A (p.Glu40Lys)
c.3469G>A (p.Glu1157Lys)
c.3565G>A (p.Glu1189Lys)
c.3415G>A (p.Glu1139Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128338028G>ACA127014880FBN2n.351C>T
n.432C>T
c.3567C>T (p.His1189=)
c.117C>T (p.His39=)
c.3468C>T (p.His1156=)
c.3564C>T (p.His1188=)
c.3414C>T (p.His1138=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128338028G>CCA360759246FBN2n.351C>G
n.432C>G
c.3567C>G (p.His1189Gln)
c.117C>G (p.His39Gln)
c.3468C>G (p.His1156Gln)
c.3564C>G (p.His1188Gln)
c.3414C>G (p.His1138Gln)
 gnomAD v4
5g.128338028G=CA1581270728FBN2n.351C=
n.432C=
c.3567C= (p.His1189=)
c.117C= (p.His39=)
c.3468C= (p.His1156=)
c.3564C= (p.His1188=)
c.3414C= (p.His1138=)
5g.128338028G>TCA360759248FBN2n.351C>A
n.432C>A
c.3567C>A (p.His1189Gln)
c.117C>A (p.His39Gln)
c.3468C>A (p.His1156Gln)
c.3564C>A (p.His1188Gln)
c.3414C>A (p.His1138Gln)
5g.128338029T>ACA360759267FBN2n.350A>T
n.431A>T
c.3566A>T (p.His1189Leu)
c.116A>T (p.His39Leu)
c.3467A>T (p.His1156Leu)
c.3563A>T (p.His1188Leu)
c.3413A>T (p.His1138Leu)
5g.128338029T>CCA360759264FBN2n.350A>G
n.431A>G
c.3566A>G (p.His1189Arg)
c.116A>G (p.His39Arg)
c.3467A>G (p.His1156Arg)
c.3563A>G (p.His1188Arg)
c.3413A>G (p.His1138Arg)
5g.128338029T>GCA323415FBN2n.350A>C
n.431A>C
c.3566A>C (p.His1189Pro)
c.116A>C (p.His39Pro)
c.3467A>C (p.His1156Pro)
c.3563A>C (p.His1188Pro)
c.3413A>C (p.His1138Pro)
 ClinVar dbSNP gnomAD v4
5g.128338029T=CA1581270729FBN2n.350A=
n.431A=
c.3566A= (p.His1189=)
c.116A= (p.His39=)
c.3467A= (p.His1156=)
c.3563A= (p.His1188=)
c.3413A= (p.His1138=)
5g.128338030G>ACA324034FBN2n.349C>T
n.430C>T
c.3565C>T (p.His1189Tyr)
c.115C>T (p.His39Tyr)
c.3466C>T (p.His1156Tyr)
c.3562C>T (p.His1188Tyr)
c.3412C>T (p.His1138Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128338030G>CCA360759270FBN2n.349C>G
n.430C>G
c.3565C>G (p.His1189Asp)
c.115C>G (p.His39Asp)
c.3466C>G (p.His1156Asp)
c.3562C>G (p.His1188Asp)
c.3412C>G (p.His1138Asp)
5g.128338030G=CA1581270730FBN2n.349C=
n.430C=
c.3565C= (p.His1189=)
c.115C= (p.His39=)
c.3466C= (p.His1156=)
c.3562C= (p.His1188=)
c.3412C= (p.His1138=)
5g.128338030G>TCA360759272FBN2n.349C>A
n.430C>A
c.3565C>A (p.His1189Asn)
c.115C>A (p.His39Asn)
c.3466C>A (p.His1156Asn)
c.3562C>A (p.His1188Asn)
c.3412C>A (p.His1138Asn)
5g.128338031T>ACA446310576FBN2n.348A>T
n.429A>T
c.3564A>T (p.Gly1188=)
c.114A>T (p.Gly38=)
c.3465A>T (p.Gly1155=)
c.3561A>T (p.Gly1187=)
c.3411A>T (p.Gly1137=)
5g.128338031T>CCA446310577FBN2n.348A>G
n.429A>G
c.3564A>G (p.Gly1188=)
c.114A>G (p.Gly38=)
c.3465A>G (p.Gly1155=)
c.3561A>G (p.Gly1187=)
c.3411A>G (p.Gly1137=)
5g.128338031T>GCA446310578FBN2n.348A>C
n.429A>C
c.3564A>C (p.Gly1188=)
c.114A>C (p.Gly38=)
c.3465A>C (p.Gly1155=)
c.3561A>C (p.Gly1187=)
c.3411A>C (p.Gly1137=)
5g.128338032C>ACA360759274FBN2n.347G>T
n.428G>T
c.3563G>T (p.Gly1188Val)
c.113G>T (p.Gly38Val)
c.3464G>T (p.Gly1155Val)
c.3560G>T (p.Gly1187Val)
c.3410G>T (p.Gly1137Val)
 COSMIC COSMIC
5g.128338032C=CA1581270731FBN2n.347G=
n.428G=
c.3563G= (p.Gly1188=)
c.113G= (p.Gly38=)
c.3464G= (p.Gly1155=)
c.3560G= (p.Gly1187=)
c.3410G= (p.Gly1137=)
5g.128338032C>GCA360759276FBN2n.347G>C
n.428G>C
c.3563G>C (p.Gly1188Ala)
c.113G>C (p.Gly38Ala)
c.3464G>C (p.Gly1155Ala)
c.3560G>C (p.Gly1187Ala)
c.3410G>C (p.Gly1137Ala)
5g.128338032C>TCA321793FBN2n.347G>A
n.428G>A
c.3563G>A (p.Gly1188Glu)
c.113G>A (p.Gly38Glu)
c.3464G>A (p.Gly1155Glu)
c.3560G>A (p.Gly1187Glu)
c.3410G>A (p.Gly1137Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128338033C>ACA360759279FBN2n.346G>T
n.427G>T
c.3562G>T (p.Gly1188Ter)
c.112G>T (p.Gly38Ter)
c.3463G>T (p.Gly1155Ter)
c.3559G>T (p.Gly1187Ter)
c.3409G>T (p.Gly1137Ter)
5g.128338033C=CA1581270732FBN2n.346G=
n.427G=
c.3562G= (p.Gly1188=)
c.112G= (p.Gly38=)
c.3463G= (p.Gly1155=)
c.3559G= (p.Gly1187=)
c.3409G= (p.Gly1137=)
5g.128338033C>GCA360759283FBN2n.346G>C
n.427G>C
c.3562G>C (p.Gly1188Arg)
c.112G>C (p.Gly38Arg)
c.3463G>C (p.Gly1155Arg)
c.3559G>C (p.Gly1187Arg)
c.3409G>C (p.Gly1137Arg)
5g.128338033C>TCA360759280FBN2n.346G>A
n.427G>A
c.3562G>A (p.Gly1188Arg)
c.112G>A (p.Gly38Arg)
c.3463G>A (p.Gly1155Arg)
c.3559G>A (p.Gly1187Arg)
c.3409G>A (p.Gly1137Arg)
 dbSNP gnomAD v3 gnomAD v4
5g.128338034C>ACA446310579FBN2n.345G>T
n.426G>T
c.3561G>T (p.Leu1187=)
c.111G>T (p.Leu37=)
c.3462G>T (p.Leu1154=)
c.3558G>T (p.Leu1186=)
c.3408G>T (p.Leu1136=)
5g.128338034C>GCA446310581FBN2n.345G>C
n.426G>C
c.3561G>C (p.Leu1187=)
c.111G>C (p.Leu37=)
c.3462G>C (p.Leu1154=)
c.3558G>C (p.Leu1186=)
c.3408G>C (p.Leu1136=)
5g.128338034C>TCA446310582FBN2n.345G>A
n.426G>A
c.3561G>A (p.Leu1187=)
c.111G>A (p.Leu37=)
c.3462G>A (p.Leu1154=)
c.3558G>A (p.Leu1186=)
c.3408G>A (p.Leu1136=)
5g.128338035A>CCA360759285FBN2n.344T>G
n.425T>G
c.3560T>G (p.Leu1187Arg)
c.110T>G (p.Leu37Arg)
c.3461T>G (p.Leu1154Arg)
c.3557T>G (p.Leu1186Arg)
c.3407T>G (p.Leu1136Arg)
5g.128338035A>GCA360759286FBN2n.344T>C
n.425T>C
c.3560T>C (p.Leu1187Pro)
c.110T>C (p.Leu37Pro)
c.3461T>C (p.Leu1154Pro)
c.3557T>C (p.Leu1186Pro)
c.3407T>C (p.Leu1136Pro)
5g.128338035A>TCA360759288FBN2n.344T>A
n.425T>A
c.3560T>A (p.Leu1187Gln)
c.110T>A (p.Leu37Gln)
c.3461T>A (p.Leu1154Gln)
c.3557T>A (p.Leu1186Gln)
c.3407T>A (p.Leu1136Gln)
5g.128338036G>ACA3395201FBN2n.343C>T
n.424C>T
c.3559C>T (p.Leu1187=)
c.109C>T (p.Leu37=)
c.3460C>T (p.Leu1154=)
c.3556C>T (p.Leu1186=)
c.3406C>T (p.Leu1136=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128338036G>CCA360759291FBN2n.343C>G
n.424C>G
c.3559C>G (p.Leu1187Val)
c.109C>G (p.Leu37Val)
c.3460C>G (p.Leu1154Val)
c.3556C>G (p.Leu1186Val)
c.3406C>G (p.Leu1136Val)
5g.128338036G=CA1581270733FBN2n.343C=
n.424C=
c.3559C= (p.Leu1187=)
c.109C= (p.Leu37=)
c.3460C= (p.Leu1154=)
c.3556C= (p.Leu1186=)
c.3406C= (p.Leu1136=)
5g.128338036G>TCA360759292FBN2n.343C>A
n.424C>A
c.3559C>A (p.Leu1187Met)
c.109C>A (p.Leu37Met)
c.3460C>A (p.Leu1154Met)
c.3556C>A (p.Leu1186Met)
c.3406C>A (p.Leu1136Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128338037T>ACA446310587FBN2n.342A>T
n.423A>T
c.3558A>T (p.Pro1186=)
c.108A>T (p.Pro36=)
c.3459A>T (p.Pro1153=)
c.3555A>T (p.Pro1185=)
c.3405A>T (p.Pro1135=)
5g.128338037T>CCA446310588FBN2n.342A>G
n.423A>G
c.3558A>G (p.Pro1186=)
c.108A>G (p.Pro36=)
c.3459A>G (p.Pro1153=)
c.3555A>G (p.Pro1185=)
c.3405A>G (p.Pro1135=)
5g.128338037T>GCA446310589FBN2n.342A>C
n.423A>C
c.3558A>C (p.Pro1186=)
c.108A>C (p.Pro36=)
c.3459A>C (p.Pro1153=)
c.3555A>C (p.Pro1185=)
c.3405A>C (p.Pro1135=)
5g.128338038G>ACA360759293FBN2n.341C>T
n.422C>T
c.3557C>T (p.Pro1186Leu)
c.107C>T (p.Pro36Leu)
c.3458C>T (p.Pro1153Leu)
c.3554C>T (p.Pro1185Leu)
c.3404C>T (p.Pro1135Leu)
 gnomAD v4
5g.128338038G>CCA360759295FBN2n.341C>G
n.422C>G
c.3557C>G (p.Pro1186Arg)
c.107C>G (p.Pro36Arg)
c.3458C>G (p.Pro1153Arg)
c.3554C>G (p.Pro1185Arg)
c.3404C>G (p.Pro1135Arg)
5g.128338038G>TCA360759297FBN2n.341C>A
n.422C>A
c.3557C>A (p.Pro1186Gln)
c.107C>A (p.Pro36Gln)
c.3458C>A (p.Pro1153Gln)
c.3554C>A (p.Pro1185Gln)
c.3404C>A (p.Pro1135Gln)
5g.128338040delCA2675117525FBN2n.341del
n.422del
c.3557del (p.Pro1186HisfsTer21)
c.107del (p.Pro36HisfsTer21)
c.3458del (p.Pro1153HisfsTer21)
c.3554del (p.Pro1185HisfsTer21)
c.3404del (p.Pro1135HisfsTer21)
 gnomAD v4
5g.128338038_128338039insTGACTGCCCACTCA2675117526FBN2n.340_341insAGTGGGCAGTCA
n.421_422insAGTGGGCAGTCA
c.3556_3557insAGTGGGCAGTCA (p.Pro1186delinsGlnTrpAlaValThr)
c.106_107insAGTGGGCAGTCA (p.Pro36delinsGlnTrpAlaValThr)
c.3457_3458insAGTGGGCAGTCA (p.Pro1153delinsGlnTrpAlaValThr)
c.3553_3554insAGTGGGCAGTCA (p.Pro1185delinsGlnTrpAlaValThr)
c.3403_3404insAGTGGGCAGTCA (p.Pro1135delinsGlnTrpAlaValThr)
 gnomAD v4
5g.128338039G>ACA360759299FBN2n.340C>T
n.421C>T
c.3556C>T (p.Pro1186Ser)
c.106C>T (p.Pro36Ser)
c.3457C>T (p.Pro1153Ser)
c.3553C>T (p.Pro1185Ser)
c.3403C>T (p.Pro1135Ser)
5g.128338039G>CCA360759300FBN2n.340C>G
n.421C>G
c.3556C>G (p.Pro1186Ala)
c.106C>G (p.Pro36Ala)
c.3457C>G (p.Pro1153Ala)
c.3553C>G (p.Pro1185Ala)
c.3403C>G (p.Pro1135Ala)
5g.128338039G>TCA360759301FBN2n.340C>A
n.421C>A
c.3556C>A (p.Pro1186Thr)
c.106C>A (p.Pro36Thr)
c.3457C>A (p.Pro1153Thr)
c.3553C>A (p.Pro1185Thr)
c.3403C>A (p.Pro1135Thr)
5g.128338040G>ACA446310591FBN2n.339C>T
n.420C>T
c.3555C>T (p.Cys1185=)
c.105C>T (p.Cys35=)
c.3456C>T (p.Cys1152=)
c.3552C>T (p.Cys1184=)
c.3402C>T (p.Cys1134=)
5g.128338040G>CCA360759305FBN2n.339C>G
n.420C>G
c.3555C>G (p.Cys1185Trp)
c.105C>G (p.Cys35Trp)
c.3456C>G (p.Cys1152Trp)
c.3552C>G (p.Cys1184Trp)
c.3402C>G (p.Cys1134Trp)
5g.128338040G>TCA360759303FBN2n.339C>A
n.420C>A
c.3555C>A (p.Cys1185Ter)
c.105C>A (p.Cys35Ter)
c.3456C>A (p.Cys1152Ter)
c.3552C>A (p.Cys1184Ter)
c.3402C>A (p.Cys1134Ter)
5g.128338041C>ACA360759307FBN2n.338G>T
n.419G>T
c.3554G>T (p.Cys1185Phe)
c.104G>T (p.Cys35Phe)
c.3455G>T (p.Cys1152Phe)
c.3551G>T (p.Cys1184Phe)
c.3401G>T (p.Cys1134Phe)
5g.128338041C>GCA360759311FBN2n.338G>C
n.419G>C
c.3554G>C (p.Cys1185Ser)
c.104G>C (p.Cys35Ser)
c.3455G>C (p.Cys1152Ser)
c.3551G>C (p.Cys1184Ser)
c.3401G>C (p.Cys1134Ser)
 gnomAD v4
5g.128338041C>TCA360759309FBN2n.338G>A
n.419G>A
c.3554G>A (p.Cys1185Tyr)
c.104G>A (p.Cys35Tyr)
c.3455G>A (p.Cys1152Tyr)
c.3551G>A (p.Cys1184Tyr)
c.3401G>A (p.Cys1134Tyr)
5g.128338042A>CCA360759315FBN2n.337T>G
n.418T>G
c.3553T>G (p.Cys1185Gly)
c.103T>G (p.Cys35Gly)
c.3454T>G (p.Cys1152Gly)
c.3550T>G (p.Cys1184Gly)
c.3400T>G (p.Cys1134Gly)
5g.128338042A>GCA360759318FBN2n.337T>C
n.418T>C
c.3553T>C (p.Cys1185Arg)
c.103T>C (p.Cys35Arg)
c.3454T>C (p.Cys1152Arg)
c.3550T>C (p.Cys1184Arg)
c.3400T>C (p.Cys1134Arg)
5g.128338042A>TCA360759316FBN2n.337T>A
n.418T>A
c.3553T>A (p.Cys1185Ser)
c.103T>A (p.Cys35Ser)
c.3454T>A (p.Cys1152Ser)
c.3550T>A (p.Cys1184Ser)
c.3400T>A (p.Cys1134Ser)
5g.128338043G>ACA446310598FBN2n.336C>T
n.417C>T
c.3552C>T (p.Asp1184=)
c.102C>T (p.Asp34=)
c.3453C>T (p.Asp1151=)
c.3549C>T (p.Asp1183=)
c.3399C>T (p.Asp1133=)
5g.128338043G>CCA360759320FBN2n.336C>G
n.417C>G
c.3552C>G (p.Asp1184Glu)
c.102C>G (p.Asp34Glu)
c.3453C>G (p.Asp1151Glu)
c.3549C>G (p.Asp1183Glu)
c.3399C>G (p.Asp1133Glu)
5g.128338043G>TCA360759321FBN2n.336C>A
n.417C>A
c.3552C>A (p.Asp1184Glu)
c.102C>A (p.Asp34Glu)
c.3453C>A (p.Asp1151Glu)
c.3549C>A (p.Asp1183Glu)
c.3399C>A (p.Asp1133Glu)
5g.128338044T>ACA360759324FBN2n.335A>T
n.416A>T
c.3551A>T (p.Asp1184Val)
c.101A>T (p.Asp34Val)
c.3452A>T (p.Asp1151Val)
c.3548A>T (p.Asp1183Val)
c.3398A>T (p.Asp1133Val)
5g.128338044T>CCA360759325FBN2n.335A>G
n.416A>G
c.3551A>G (p.Asp1184Gly)
c.101A>G (p.Asp34Gly)
c.3452A>G (p.Asp1151Gly)
c.3548A>G (p.Asp1183Gly)
c.3398A>G (p.Asp1133Gly)
5g.128338044T>GCA360759326FBN2n.335A>C
n.416A>C
c.3551A>C (p.Asp1184Ala)
c.101A>C (p.Asp34Ala)
c.3452A>C (p.Asp1151Ala)
c.3548A>C (p.Asp1183Ala)
c.3398A>C (p.Asp1133Ala)
5g.128338045C>ACA360759327FBN2n.334G>T
n.415G>T
c.3550G>T (p.Asp1184Tyr)
c.100G>T (p.Asp34Tyr)
c.3451G>T (p.Asp1151Tyr)
c.3547G>T (p.Asp1183Tyr)
c.3397G>T (p.Asp1133Tyr)
5g.128338045C>GCA360759328FBN2n.334G>C
n.415G>C
c.3550G>C (p.Asp1184His)
c.100G>C (p.Asp34His)
c.3451G>C (p.Asp1151His)
c.3547G>C (p.Asp1183His)
c.3397G>C (p.Asp1133His)
5g.128338045C>TCA360759329FBN2n.334G>A
n.415G>A
c.3550G>A (p.Asp1184Asn)
c.100G>A (p.Asp34Asn)
c.3451G>A (p.Asp1151Asn)
c.3547G>A (p.Asp1183Asn)
c.3397G>A (p.Asp1133Asn)
5g.128338046A>CCA360759330FBN2n.333T>G
n.414T>G
c.3549T>G (p.Cys1183Trp)
c.99T>G (p.Cys33Trp)
c.3450T>G (p.Cys1150Trp)
c.3546T>G (p.Cys1182Trp)
c.3396T>G (p.Cys1132Trp)
5g.128338046A>GCA446310604FBN2n.333T>C
n.414T>C
c.3549T>C (p.Cys1183=)
c.99T>C (p.Cys33=)
c.3450T>C (p.Cys1150=)
c.3546T>C (p.Cys1182=)
c.3396T>C (p.Cys1132=)
5g.128338046A>TCA360759331FBN2n.333T>A
n.414T>A
c.3549T>A (p.Cys1183Ter)
c.99T>A (p.Cys33Ter)
c.3450T>A (p.Cys1150Ter)
c.3546T>A (p.Cys1182Ter)
c.3396T>A (p.Cys1132Ter)
5g.128338047C>ACA360759334FBN2n.332G>T
n.413G>T
c.3548G>T (p.Cys1183Phe)
c.98G>T (p.Cys33Phe)
c.3449G>T (p.Cys1150Phe)
c.3545G>T (p.Cys1182Phe)
c.3395G>T (p.Cys1132Phe)
5g.128338047C>GCA360759333FBN2n.332G>C
n.413G>C
c.3548G>C (p.Cys1183Ser)
c.98G>C (p.Cys33Ser)
c.3449G>C (p.Cys1150Ser)
c.3545G>C (p.Cys1182Ser)
c.3395G>C (p.Cys1132Ser)
5g.128338047C>TCA360759332FBN2n.332G>A
n.413G>A
c.3548G>A (p.Cys1183Tyr)
c.98G>A (p.Cys33Tyr)
c.3449G>A (p.Cys1150Tyr)
c.3545G>A (p.Cys1182Tyr)
c.3395G>A (p.Cys1132Tyr)
 COSMIC COSMIC
5g.128338048A>CCA360759335FBN2n.331T>G
n.412T>G
c.3547T>G (p.Cys1183Gly)
c.97T>G (p.Cys33Gly)
c.3448T>G (p.Cys1150Gly)
c.3544T>G (p.Cys1182Gly)
c.3394T>G (p.Cys1132Gly)
5g.128338048A>GCA360759336FBN2n.331T>C
n.412T>C
c.3547T>C (p.Cys1183Arg)
c.97T>C (p.Cys33Arg)
c.3448T>C (p.Cys1150Arg)
c.3544T>C (p.Cys1182Arg)
c.3394T>C (p.Cys1132Arg)
 ClinVar
5g.128338048A>TCA360759337FBN2n.331T>A
n.412T>A
c.3547T>A (p.Cys1183Ser)
c.97T>A (p.Cys33Ser)
c.3448T>A (p.Cys1150Ser)
c.3544T>A (p.Cys1182Ser)
c.3394T>A (p.Cys1132Ser)
5g.128338049C>ACA3395202FBN2n.330G>T
n.411G>T
c.3546G>T (p.Gln1182His)
c.96G>T (p.Gln32His)
c.3447G>T (p.Gln1149His)
c.3543G>T (p.Gln1181His)
c.3393G>T (p.Gln1131His)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128338049C=CA1581270734FBN2n.330G=
n.411G=
c.3546G= (p.Gln1182=)
c.96G= (p.Gln32=)
c.3447G= (p.Gln1149=)
c.3543G= (p.Gln1181=)
c.3393G= (p.Gln1131=)
5g.128338049C>GCA360759338FBN2n.330G>C
n.411G>C
c.3546G>C (p.Gln1182His)
c.96G>C (p.Gln32His)
c.3447G>C (p.Gln1149His)
c.3543G>C (p.Gln1181His)
c.3393G>C (p.Gln1131His)
5g.128338049C>TCA446310609FBN2n.330G>A
n.411G>A
c.3546G>A (p.Gln1182=)
c.96G>A (p.Gln32=)
c.3447G>A (p.Gln1149=)
c.3543G>A (p.Gln1181=)
c.3393G>A (p.Gln1131=)
 dbSNP gnomAD v3 gnomAD v4
5g.128338050T>ACA360759339FBN2n.329A>T
n.410A>T
c.3545A>T (p.Gln1182Leu)
c.95A>T (p.Gln32Leu)
c.3446A>T (p.Gln1149Leu)
c.3542A>T (p.Gln1181Leu)
c.3392A>T (p.Gln1131Leu)
5g.128338050T>CCA360759340FBN2n.329A>G
n.410A>G
c.3545A>G (p.Gln1182Arg)
c.95A>G (p.Gln32Arg)
c.3446A>G (p.Gln1149Arg)
c.3542A>G (p.Gln1181Arg)
c.3392A>G (p.Gln1131Arg)
 gnomAD v4
5g.128338050T>GCA360759341FBN2n.329A>C
n.410A>C
c.3545A>C (p.Gln1182Pro)
c.95A>C (p.Gln32Pro)
c.3446A>C (p.Gln1149Pro)
c.3542A>C (p.Gln1181Pro)
c.3392A>C (p.Gln1131Pro)
5g.128338051G>ACA360759342FBN2n.328C>T
n.409C>T
c.3544C>T (p.Gln1182Ter)
c.94C>T (p.Gln32Ter)
c.3445C>T (p.Gln1149Ter)
c.3541C>T (p.Gln1181Ter)
c.3391C>T (p.Gln1131Ter)
 COSMIC COSMIC
5g.128338051G>CCA360759343FBN2n.328C>G
n.409C>G
c.3544C>G (p.Gln1182Glu)
c.94C>G (p.Gln32Glu)
c.3445C>G (p.Gln1149Glu)
c.3541C>G (p.Gln1181Glu)
c.3391C>G (p.Gln1131Glu)
5g.128338051G>TCA360759344FBN2n.328C>A
n.409C>A
c.3544C>A (p.Gln1182Lys)
c.94C>A (p.Gln32Lys)
c.3445C>A (p.Gln1149Lys)
c.3541C>A (p.Gln1181Lys)
c.3391C>A (p.Gln1131Lys)
5g.128338052A>CCA360759346FBN2n.327T>G
n.408T>G
c.3543T>G (p.Phe1181Leu)
c.93T>G (p.Phe31Leu)
c.3444T>G (p.Phe1148Leu)
c.3540T>G (p.Phe1180Leu)
c.3390T>G (p.Phe1130Leu)
5g.128338052A>GCA446310619FBN2n.327T>C
n.408T>C
c.3543T>C (p.Phe1181=)
c.93T>C (p.Phe31=)
c.3444T>C (p.Phe1148=)
c.3540T>C (p.Phe1180=)
c.3390T>C (p.Phe1130=)
5g.128338052A>TCA360759345FBN2n.327T>A
n.408T>A
c.3543T>A (p.Phe1181Leu)
c.93T>A (p.Phe31Leu)
c.3444T>A (p.Phe1148Leu)
c.3540T>A (p.Phe1180Leu)
c.3390T>A (p.Phe1130Leu)
5g.128338053A>CCA360759347FBN2n.326T>G
n.407T>G
c.3542T>G (p.Phe1181Cys)
c.92T>G (p.Phe31Cys)
c.3443T>G (p.Phe1148Cys)
c.3539T>G (p.Phe1180Cys)
c.3389T>G (p.Phe1130Cys)
5g.128338053A>GCA360759348FBN2n.326T>C
n.407T>C
c.3542T>C (p.Phe1181Ser)
c.92T>C (p.Phe31Ser)
c.3443T>C (p.Phe1148Ser)
c.3539T>C (p.Phe1180Ser)
c.3389T>C (p.Phe1130Ser)
5g.128338053A>TCA360759349FBN2n.326T>A
n.407T>A
c.3542T>A (p.Phe1181Tyr)
c.92T>A (p.Phe31Tyr)
c.3443T>A (p.Phe1148Tyr)
c.3539T>A (p.Phe1180Tyr)
c.3389T>A (p.Phe1130Tyr)
5g.128338054A>CCA360759350FBN2n.325T>G
n.406T>G
c.3541T>G (p.Phe1181Val)
c.91T>G (p.Phe31Val)
c.3442T>G (p.Phe1148Val)
c.3538T>G (p.Phe1180Val)
c.3388T>G (p.Phe1130Val)
5g.128338054A>GCA360759351FBN2n.325T>C
n.406T>C
c.3541T>C (p.Phe1181Leu)
c.91T>C (p.Phe31Leu)
c.3442T>C (p.Phe1148Leu)
c.3538T>C (p.Phe1180Leu)
c.3388T>C (p.Phe1130Leu)
5g.128338054A>TCA360759352FBN2n.325T>A
n.406T>A
c.3541T>A (p.Phe1181Ile)
c.91T>A (p.Phe31Ile)
c.3442T>A (p.Phe1148Ile)
c.3538T>A (p.Phe1180Ile)
c.3388T>A (p.Phe1130Ile)
5g.128338055G>ACA446310621FBN2n.324C>T
n.405C>T
c.3540C>T (p.Ser1180=)
c.90C>T (p.Ser30=)
c.3441C>T (p.Ser1147=)
c.3537C>T (p.Ser1179=)
c.3387C>T (p.Ser1129=)
5g.128338055G>CCA360759354FBN2n.324C>G
n.405C>G
c.3540C>G (p.Ser1180Arg)
c.90C>G (p.Ser30Arg)
c.3441C>G (p.Ser1147Arg)
c.3537C>G (p.Ser1179Arg)
c.3387C>G (p.Ser1129Arg)
5g.128338055G>TCA360759353FBN2n.324C>A
n.405C>A
c.3540C>A (p.Ser1180Arg)
c.90C>A (p.Ser30Arg)
c.3441C>A (p.Ser1147Arg)
c.3537C>A (p.Ser1179Arg)
c.3387C>A (p.Ser1129Arg)
5g.128338056C>ACA360759355FBN2n.323G>T
n.404G>T
c.3539G>T (p.Ser1180Ile)
c.89G>T (p.Ser30Ile)
c.3440G>T (p.Ser1147Ile)
c.3536G>T (p.Ser1179Ile)
c.3386G>T (p.Ser1129Ile)
5g.128338056C=CA1581270735FBN2n.323G=
n.404G=
c.3539G= (p.Ser1180=)
c.89G= (p.Ser30=)
c.3440G= (p.Ser1147=)
c.3536G= (p.Ser1179=)
c.3386G= (p.Ser1129=)
5g.128338056C>GCA3395203FBN2n.323G>C
n.404G>C
c.3539G>C (p.Ser1180Thr)
c.89G>C (p.Ser30Thr)
c.3440G>C (p.Ser1147Thr)
c.3536G>C (p.Ser1179Thr)
c.3386G>C (p.Ser1129Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128338056C>TCA360759356FBN2n.323G>A
n.404G>A
c.3539G>A (p.Ser1180Asn)
c.89G>A (p.Ser30Asn)
c.3440G>A (p.Ser1147Asn)
c.3536G>A (p.Ser1179Asn)
c.3386G>A (p.Ser1129Asn)
5g.128338057T>ACA360759357FBN2n.322A>T
n.403A>T
c.3538A>T (p.Ser1180Cys)
c.88A>T (p.Ser30Cys)
c.3439A>T (p.Ser1147Cys)
c.3535A>T (p.Ser1179Cys)
c.3385A>T (p.Ser1129Cys)
5g.128338057T>CCA360759358FBN2n.322A>G
n.403A>G
c.3538A>G (p.Ser1180Gly)
c.88A>G (p.Ser30Gly)
c.3439A>G (p.Ser1147Gly)
c.3535A>G (p.Ser1179Gly)
c.3385A>G (p.Ser1129Gly)
5g.128338057T>GCA360759359FBN2n.322A>C
n.403A>C
c.3538A>C (p.Ser1180Arg)
c.88A>C (p.Ser30Arg)
c.3439A>C (p.Ser1147Arg)
c.3535A>C (p.Ser1179Arg)
c.3385A>C (p.Ser1129Arg)
5g.128338058G>ACA446310625FBN2n.321C>T
n.402C>T
c.3537C>T (p.Gly1179=)
c.87C>T (p.Gly29=)
c.3438C>T (p.Gly1146=)
c.3534C>T (p.Gly1178=)
c.3384C>T (p.Gly1128=)
5g.128338058G>CCA446310627FBN2n.321C>G
n.402C>G
c.3537C>G (p.Gly1179=)
c.87C>G (p.Gly29=)
c.3438C>G (p.Gly1146=)
c.3534C>G (p.Gly1178=)
c.3384C>G (p.Gly1128=)
5g.128338058G>TCA446310626FBN2n.321C>A
n.402C>A
c.3537C>A (p.Gly1179=)
c.87C>A (p.Gly29=)
c.3438C>A (p.Gly1146=)
c.3534C>A (p.Gly1178=)
c.3384C>A (p.Gly1128=)
5g.128338059C>ACA360759360FBN2n.320G>T
n.401G>T
c.3536G>T (p.Gly1179Val)
c.86G>T (p.Gly29Val)
c.3437G>T (p.Gly1146Val)
c.3533G>T (p.Gly1178Val)
c.3383G>T (p.Gly1128Val)
5g.128338059C>GCA360759362FBN2n.320G>C
n.401G>C
c.3536G>C (p.Gly1179Ala)
c.86G>C (p.Gly29Ala)
c.3437G>C (p.Gly1146Ala)
c.3533G>C (p.Gly1178Ala)
c.3383G>C (p.Gly1128Ala)
5g.128338059C>TCA360759361FBN2n.320G>A
n.401G>A
c.3536G>A (p.Gly1179Asp)
c.86G>A (p.Gly29Asp)
c.3437G>A (p.Gly1146Asp)
c.3533G>A (p.Gly1178Asp)
c.3383G>A (p.Gly1128Asp)
5g.128338060C>ACA360759363FBN2n.319G>T
n.400G>T
c.3535G>T (p.Gly1179Cys)
c.85G>T (p.Gly29Cys)
c.3436G>T (p.Gly1146Cys)
c.3532G>T (p.Gly1178Cys)
c.3382G>T (p.Gly1128Cys)
 ClinVar
5g.128338060C>GCA360759364FBN2n.319G>C
n.400G>C
c.3535G>C (p.Gly1179Arg)
c.85G>C (p.Gly29Arg)
c.3436G>C (p.Gly1146Arg)
c.3532G>C (p.Gly1178Arg)
c.3382G>C (p.Gly1128Arg)
5g.128338060C>TCA360759365FBN2n.319G>A
n.400G>A
c.3535G>A (p.Gly1179Ser)
c.85G>A (p.Gly29Ser)
c.3436G>A (p.Gly1146Ser)
c.3532G>A (p.Gly1178Ser)
c.3382G>A (p.Gly1128Ser)
5g.128338061C>ACA360759366FBN2n.318G>T
n.399G>T
c.3534G>T (p.Glu1178Asp)
c.84G>T (p.Glu28Asp)
c.3435G>T (p.Glu1145Asp)
c.3531G>T (p.Glu1177Asp)
c.3381G>T (p.Glu1127Asp)
5g.128338061C=CA1581270736FBN2n.318G=
n.399G=
c.3534G= (p.Glu1178=)
c.84G= (p.Glu28=)
c.3435G= (p.Glu1145=)
c.3531G= (p.Glu1177=)
c.3381G= (p.Glu1127=)
5g.128338061C>GCA3395204FBN2n.318G>C
n.399G>C
c.3534G>C (p.Glu1178Asp)
c.84G>C (p.Glu28Asp)
c.3435G>C (p.Glu1145Asp)
c.3531G>C (p.Glu1177Asp)
c.3381G>C (p.Glu1127Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.128338061C>TCA446310631FBN2n.318G>A
n.399G>A
c.3534G>A (p.Glu1178=)
c.84G>A (p.Glu28=)
c.3435G>A (p.Glu1145=)
c.3531G>A (p.Glu1177=)
c.3381G>A (p.Glu1127=)
 gnomAD v4
5g.128338062T>ACA360759367FBN2n.317A>T
n.398A>T
c.3533A>T (p.Glu1178Val)
c.83A>T (p.Glu28Val)
c.3434A>T (p.Glu1145Val)
c.3530A>T (p.Glu1177Val)
c.3380A>T (p.Glu1127Val)
5g.128338062T>CCA360759368FBN2n.317A>G
n.398A>G
c.3533A>G (p.Glu1178Gly)
c.83A>G (p.Glu28Gly)
c.3434A>G (p.Glu1145Gly)
c.3530A>G (p.Glu1177Gly)
c.3380A>G (p.Glu1127Gly)
5g.128338062T>GCA360759369FBN2n.317A>C
n.398A>C
c.3533A>C (p.Glu1178Ala)
c.83A>C (p.Glu28Ala)
c.3434A>C (p.Glu1145Ala)
c.3530A>C (p.Glu1177Ala)
c.3380A>C (p.Glu1127Ala)
5g.128338063C>ACA360759370FBN2n.316G>T
n.397G>T
c.3532G>T (p.Glu1178Ter)
c.82G>T (p.Glu28Ter)
c.3433G>T (p.Glu1145Ter)
c.3529G>T (p.Glu1177Ter)
c.3379G>T (p.Glu1127Ter)
5g.128338063C=CA1581270737FBN2n.316G=
n.397G=
c.3532G= (p.Glu1178=)
c.82G= (p.Glu28=)
c.3433G= (p.Glu1145=)
c.3529G= (p.Glu1177=)
c.3379G= (p.Glu1127=)
5g.128338063C>GCA360759371FBN2n.316G>C
n.397G>C
c.3532G>C (p.Glu1178Gln)
c.82G>C (p.Glu28Gln)
c.3433G>C (p.Glu1145Gln)
c.3529G>C (p.Glu1177Gln)
c.3379G>C (p.Glu1127Gln)
 COSMIC COSMIC
5g.128338063C>TCA360759372FBN2n.316G>A
n.397G>A
c.3532G>A (p.Glu1178Lys)
c.82G>A (p.Glu28Lys)
c.3433G>A (p.Glu1145Lys)
c.3529G>A (p.Glu1177Lys)
c.3379G>A (p.Glu1127Lys)
 dbSNP gnomAD v4 COSMIC COSMIC
5g.128338064A>CCA446310634FBN2n.315T>G
n.396T>G
c.3531T>G (p.Thr1177=)
c.81T>G (p.Thr27=)
c.3432T>G (p.Thr1144=)
c.3528T>G (p.Thr1176=)
c.3378T>G (p.Thr1126=)
5g.128338064A>GCA446310635FBN2n.315T>C
n.396T>C
c.3531T>C (p.Thr1177=)
c.81T>C (p.Thr27=)
c.3432T>C (p.Thr1144=)
c.3528T>C (p.Thr1176=)
c.3378T>C (p.Thr1126=)
5g.128338064A>TCA446310636FBN2n.315T>A
n.396T>A
c.3531T>A (p.Thr1177=)
c.81T>A (p.Thr27=)
c.3432T>A (p.Thr1144=)
c.3528T>A (p.Thr1176=)
c.3378T>A (p.Thr1126=)
5g.128338065G>ACA360759374FBN2n.314C>T
n.395C>T
c.3530C>T (p.Thr1177Ile)
c.80C>T (p.Thr27Ile)
c.3431C>T (p.Thr1144Ile)
c.3527C>T (p.Thr1176Ile)
c.3377C>T (p.Thr1126Ile)
5g.128338065G>CCA360759376FBN2n.314C>G
n.395C>G
c.3530C>G (p.Thr1177Ser)
c.80C>G (p.Thr27Ser)
c.3431C>G (p.Thr1144Ser)
c.3527C>G (p.Thr1176Ser)
c.3377C>G (p.Thr1126Ser)
5g.128338065G=CA1581270738FBN2n.314C=
n.395C=
c.3530C= (p.Thr1177=)
c.80C= (p.Thr27=)
c.3431C= (p.Thr1144=)
c.3527C= (p.Thr1176=)
c.3377C= (p.Thr1126=)
5g.128338065G>TCA360759373FBN2n.314C>A
n.395C>A
c.3530C>A (p.Thr1177Asn)
c.80C>A (p.Thr27Asn)
c.3431C>A (p.Thr1144Asn)
c.3527C>A (p.Thr1176Asn)
c.3377C>A (p.Thr1126Asn)
 dbSNP gnomAD v2
5g.128338066T>ACA360759380FBN2n.313A>T
n.394A>T
c.3529A>T (p.Thr1177Ser)
c.79A>T (p.Thr27Ser)
c.3430A>T (p.Thr1144Ser)
c.3526A>T (p.Thr1176Ser)
c.3376A>T (p.Thr1126Ser)
5g.128338066T>CCA127014890FBN2n.313A>G
n.394A>G
c.3529A>G (p.Thr1177Ala)
c.79A>G (p.Thr27Ala)
c.3430A>G (p.Thr1144Ala)
c.3526A>G (p.Thr1176Ala)
c.3376A>G (p.Thr1126Ala)
 dbSNP gnomAD v3 gnomAD v4
5g.128338066T>GCA360759379FBN2n.313A>C
n.394A>C
c.3529A>C (p.Thr1177Pro)
c.79A>C (p.Thr27Pro)
c.3430A>C (p.Thr1144Pro)
c.3526A>C (p.Thr1176Pro)
c.3376A>C (p.Thr1126Pro)
5g.128338066T=CA1581270739FBN2n.313A=
n.394A=
c.3529A= (p.Thr1177=)
c.79A= (p.Thr27=)
c.3430A= (p.Thr1144=)
c.3526A= (p.Thr1176=)
c.3376A= (p.Thr1126=)
5g.128338067G>ACA446310640FBN2n.312C>T
n.393C>T
c.3528C>T (p.Asn1176=)
c.78C>T (p.Asn26=)
c.3429C>T (p.Asn1143=)
c.3525C>T (p.Asn1175=)
c.3375C>T (p.Asn1125=)
5g.128338067G>CCA360759383FBN2n.312C>G
n.393C>G
c.3528C>G (p.Asn1176Lys)
c.78C>G (p.Asn26Lys)
c.3429C>G (p.Asn1143Lys)
c.3525C>G (p.Asn1175Lys)
c.3375C>G (p.Asn1125Lys)
5g.128338067G>TCA360759385FBN2n.312C>A
n.393C>A
c.3528C>A (p.Asn1176Lys)
c.78C>A (p.Asn26Lys)
c.3429C>A (p.Asn1143Lys)
c.3525C>A (p.Asn1175Lys)
c.3375C>A (p.Asn1125Lys)
5g.128338068T>ACA360759387FBN2n.311A>T
n.392A>T
c.3527A>T (p.Asn1176Ile)
c.77A>T (p.Asn26Ile)
c.3428A>T (p.Asn1143Ile)
c.3524A>T (p.Asn1175Ile)
c.3374A>T (p.Asn1125Ile)
 gnomAD v4
5g.128338068T>CCA360759388FBN2n.311A>G
n.392A>G
c.3527A>G (p.Asn1176Ser)
c.77A>G (p.Asn26Ser)
c.3428A>G (p.Asn1143Ser)
c.3524A>G (p.Asn1175Ser)
c.3374A>G (p.Asn1125Ser)
5g.128338068T>GCA360759390FBN2n.311A>C
n.392A>C
c.3527A>C (p.Asn1176Thr)
c.77A>C (p.Asn26Thr)
c.3428A>C (p.Asn1143Thr)
c.3524A>C (p.Asn1175Thr)
c.3374A>C (p.Asn1125Thr)
5g.128338069T>ACA360759392FBN2n.310A>T
n.391A>T
c.3526A>T (p.Asn1176Tyr)
c.76A>T (p.Asn26Tyr)
c.3427A>T (p.Asn1143Tyr)
c.3523A>T (p.Asn1175Tyr)
c.3373A>T (p.Asn1125Tyr)
5g.128338069T>CCA360759395FBN2n.310A>G
n.391A>G
c.3526A>G (p.Asn1176Asp)
c.76A>G (p.Asn26Asp)
c.3427A>G (p.Asn1143Asp)
c.3523A>G (p.Asn1175Asp)
c.3373A>G (p.Asn1125Asp)
 gnomAD v4
5g.128338069T>GCA360759396FBN2n.310A>C
n.391A>C
c.3526A>C (p.Asn1176His)
c.76A>C (p.Asn26His)
c.3427A>C (p.Asn1143His)
c.3523A>C (p.Asn1175His)
c.3373A>C (p.Asn1125His)
5g.128338070C>ACA446310643FBN2n.309G>T
n.390G>T
c.3525G>T (p.Val1175=)
c.75G>T (p.Val25=)
c.3426G>T (p.Val1142=)
c.3522G>T (p.Val1174=)
c.3372G>T (p.Val1124=)
5g.128338070C>GCA446310644FBN2n.309G>C
n.390G>C
c.3525G>C (p.Val1175=)
c.75G>C (p.Val25=)
c.3426G>C (p.Val1142=)
c.3522G>C (p.Val1174=)
c.3372G>C (p.Val1124=)
 COSMIC COSMIC
5g.128338070C>TCA446310645FBN2n.309G>A
n.390G>A
c.3525G>A (p.Val1175=)
c.75G>A (p.Val25=)
c.3426G>A (p.Val1142=)
c.3522G>A (p.Val1174=)
c.3372G>A (p.Val1124=)
5g.128338071A>CCA360759397FBN2n.308T>G
n.389T>G
c.3524T>G (p.Val1175Gly)
c.74T>G (p.Val25Gly)
c.3425T>G (p.Val1142Gly)
c.3521T>G (p.Val1174Gly)
c.3371T>G (p.Val1124Gly)
 gnomAD v4
5g.128338071A>GCA360759398FBN2n.308T>C
n.389T>C
c.3524T>C (p.Val1175Ala)
c.74T>C (p.Val25Ala)
c.3425T>C (p.Val1142Ala)
c.3521T>C (p.Val1174Ala)
c.3371T>C (p.Val1124Ala)
5g.128338071A>TCA360759399FBN2n.308T>A
n.389T>A
c.3524T>A (p.Val1175Glu)
c.74T>A (p.Val25Glu)
c.3425T>A (p.Val1142Glu)
c.3521T>A (p.Val1174Glu)
c.3371T>A (p.Val1124Glu)
5g.128338072C>ACA360759405FBN2n.307G>T
n.388G>T
c.3523G>T (p.Val1175Leu)
c.73G>T (p.Val25Leu)
c.3424G>T (p.Val1142Leu)
c.3520G>T (p.Val1174Leu)
c.3370G>T (p.Val1124Leu)
 gnomAD v4
5g.128338072C>GCA360759401FBN2n.307G>C
n.388G>C
c.3523G>C (p.Val1175Leu)
c.73G>C (p.Val25Leu)
c.3424G>C (p.Val1142Leu)
c.3520G>C (p.Val1174Leu)
c.3370G>C (p.Val1124Leu)
5g.128338072C>TCA360759403FBN2n.307G>A
n.388G>A
c.3523G>A (p.Val1175Met)
c.73G>A (p.Val25Met)
c.3424G>A (p.Val1142Met)
c.3520G>A (p.Val1174Met)
c.3370G>A (p.Val1124Met)
5g.128338073A>CCA360759406FBN2n.306T>G
n.387T>G
c.3522T>G (p.Cys1174Trp)
c.72T>G (p.Cys24Trp)
c.3423T>G (p.Cys1141Trp)
c.3519T>G (p.Cys1173Trp)
c.3369T>G (p.Cys1123Trp)
5g.128338073A>GCA446310649FBN2n.306T>C
n.387T>C
c.3522T>C (p.Cys1174=)
c.72T>C (p.Cys24=)
c.3423T>C (p.Cys1141=)
c.3519T>C (p.Cys1173=)
c.3369T>C (p.Cys1123=)
 dbSNP
5g.128338073A>TCA360759408FBN2n.306T>A
n.387T>A
c.3522T>A (p.Cys1174Ter)
c.72T>A (p.Cys24Ter)
c.3423T>A (p.Cys1141Ter)
c.3519T>A (p.Cys1173Ter)
c.3369T>A (p.Cys1123Ter)
5g.128338074C>ACA360759410FBN2n.305G>T
n.386G>T
c.3521G>T (p.Cys1174Phe)
c.71G>T (p.Cys24Phe)
c.3422G>T (p.Cys1141Phe)
c.3518G>T (p.Cys1173Phe)
c.3368G>T (p.Cys1123Phe)
 ClinVar dbSNP
5g.128338074C=CA1581270740FBN2n.305G=
n.386G=
c.3521G= (p.Cys1174=)
c.71G= (p.Cys24=)
c.3422G= (p.Cys1141=)
c.3518G= (p.Cys1173=)
c.3368G= (p.Cys1123=)
5g.128338074C>GCA360759411FBN2n.305G>C
n.386G>C
c.3521G>C (p.Cys1174Ser)
c.71G>C (p.Cys24Ser)
c.3422G>C (p.Cys1141Ser)
c.3518G>C (p.Cys1173Ser)
c.3368G>C (p.Cys1123Ser)
5g.128338074C>TCA360759412FBN2n.305G>A
n.386G>A
c.3521G>A (p.Cys1174Tyr)
c.71G>A (p.Cys24Tyr)
c.3422G>A (p.Cys1141Tyr)
c.3518G>A (p.Cys1173Tyr)
c.3368G>A (p.Cys1123Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128338075A=CA1581270741FBN2n.304T=
n.385T=
c.3520T= (p.Cys1174=)
c.70T= (p.Cys24=)
c.3421T= (p.Cys1141=)
c.3517T= (p.Cys1173=)
c.3367T= (p.Cys1123=)
5g.128338075A>CCA322422FBN2n.304T>G
n.385T>G
c.3520T>G (p.Cys1174Gly)
c.70T>G (p.Cys24Gly)
c.3421T>G (p.Cys1141Gly)
c.3517T>G (p.Cys1173Gly)
c.3367T>G (p.Cys1123Gly)
 dbSNP
5g.128338075A>GCA360759416FBN2n.304T>C
n.385T>C
c.3520T>C (p.Cys1174Arg)
c.70T>C (p.Cys24Arg)
c.3421T>C (p.Cys1141Arg)
c.3517T>C (p.Cys1173Arg)
c.3367T>C (p.Cys1123Arg)
 ClinVar dbSNP
5g.128338075A>TCA360759418FBN2n.304T>A
n.385T>A
c.3520T>A (p.Cys1174Ser)
c.70T>A (p.Cys24Ser)
c.3421T>A (p.Cys1141Ser)
c.3517T>A (p.Cys1173Ser)
c.3367T>A (p.Cys1123Ser)
5g.128338076G>ACA446310654FBN2n.303C>T
n.384C>T
c.3519C>T (p.Thr1173=)
c.69C>T (p.Thr23=)
c.3420C>T (p.Thr1140=)
c.3516C>T (p.Thr1172=)
c.3366C>T (p.Thr1122=)
5g.128338076G>CCA3395205FBN2n.303C>G
n.384C>G
c.3519C>G (p.Thr1173=)
c.69C>G (p.Thr23=)
c.3420C>G (p.Thr1140=)
c.3516C>G (p.Thr1172=)
c.3366C>G (p.Thr1122=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128338076G=CA1581270742FBN2n.303C=
n.384C=
c.3519C= (p.Thr1173=)
c.69C= (p.Thr23=)
c.3420C= (p.Thr1140=)
c.3516C= (p.Thr1172=)
c.3366C= (p.Thr1122=)
5g.128338076G>TCA446310655FBN2n.303C>A
n.384C>A
c.3519C>A (p.Thr1173=)
c.69C>A (p.Thr23=)
c.3420C>A (p.Thr1140=)
c.3516C>A (p.Thr1172=)
c.3366C>A (p.Thr1122=)
5g.128338077G>ACA360759421FBN2n.302C>T
n.383C>T
c.3518C>T (p.Thr1173Ile)
c.68C>T (p.Thr23Ile)
c.3419C>T (p.Thr1140Ile)
c.3515C>T (p.Thr1172Ile)
c.3365C>T (p.Thr1122Ile)
 dbSNP gnomAD v2
5g.128338077G>CCA323111FBN2n.302C>G
n.383C>G
c.3518C>G (p.Thr1173Ser)
c.68C>G (p.Thr23Ser)
c.3419C>G (p.Thr1140Ser)
c.3515C>G (p.Thr1172Ser)
c.3365C>G (p.Thr1122Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128338077G=CA1581270743FBN2n.302C=
n.383C=
c.3518C= (p.Thr1173=)
c.68C= (p.Thr23=)
c.3419C= (p.Thr1140=)
c.3515C= (p.Thr1172=)
c.3365C= (p.Thr1122=)
5g.128338077G>TCA360759424FBN2n.302C>A
n.383C>A
c.3518C>A (p.Thr1173Asn)
c.68C>A (p.Thr23Asn)
c.3419C>A (p.Thr1140Asn)
c.3515C>A (p.Thr1172Asn)
c.3365C>A (p.Thr1122Asn)
5g.128338078T>ACA360759430FBN2n.301A>T
n.382A>T
c.3517A>T (p.Thr1173Ser)
c.67A>T (p.Thr23Ser)
c.3418A>T (p.Thr1140Ser)
c.3514A>T (p.Thr1172Ser)
c.3364A>T (p.Thr1122Ser)
 ClinVar dbSNP
5g.128338078T>CCA360759428FBN2n.301A>G
n.382A>G
c.3517A>G (p.Thr1173Ala)
c.67A>G (p.Thr23Ala)
c.3418A>G (p.Thr1140Ala)
c.3514A>G (p.Thr1172Ala)
c.3364A>G (p.Thr1122Ala)
5g.128338078T>GCA360759426FBN2n.301A>C
n.382A>C
c.3517A>C (p.Thr1173Pro)
c.67A>C (p.Thr23Pro)
c.3418A>C (p.Thr1140Pro)
c.3514A>C (p.Thr1172Pro)
c.3364A>C (p.Thr1122Pro)
5g.128338078T=CA1581270744FBN2n.301A=
n.382A=
c.3517A= (p.Thr1173=)
c.67A= (p.Thr23=)
c.3418A= (p.Thr1140=)
c.3514A= (p.Thr1172=)
c.3364A= (p.Thr1122=)
5g.128338079G>ACA446310662FBN2n.300C>T
n.381C>T
c.3516C>T (p.Gly1172=)
c.66C>T (p.Gly22=)
c.3417C>T (p.Gly1139=)
c.3513C>T (p.Gly1171=)
c.3363C>T (p.Gly1121=)
5g.128338079G>CCA446310663FBN2n.300C>G
n.381C>G
c.3516C>G (p.Gly1172=)
c.66C>G (p.Gly22=)
c.3417C>G (p.Gly1139=)
c.3513C>G (p.Gly1171=)
c.3363C>G (p.Gly1121=)
5g.128338079G>TCA446310664FBN2n.300C>A
n.381C>A
c.3516C>A (p.Gly1172=)
c.66C>A (p.Gly22=)
c.3417C>A (p.Gly1139=)
c.3513C>A (p.Gly1171=)
c.3363C>A (p.Gly1121=)
5g.128338080C>ACA360759432FBN2n.299G>T
n.380G>T
c.3515G>T (p.Gly1172Val)
c.65G>T (p.Gly22Val)
c.3416G>T (p.Gly1139Val)
c.3512G>T (p.Gly1171Val)
c.3362G>T (p.Gly1121Val)
5g.128338080C=CA1581270745FBN2n.299G=
n.380G=
c.3515G= (p.Gly1172=)
c.65G= (p.Gly22=)
c.3416G= (p.Gly1139=)
c.3512G= (p.Gly1171=)
c.3362G= (p.Gly1121=)
5g.128338080C>GCA127014906FBN2n.299G>C
n.380G>C
c.3515G>C (p.Gly1172Ala)
c.65G>C (p.Gly22Ala)
c.3416G>C (p.Gly1139Ala)
c.3512G>C (p.Gly1171Ala)
c.3362G>C (p.Gly1121Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.128338080C>TCA16611897FBN2n.299G>A
n.380G>A
c.3515G>A (p.Gly1172Asp)
c.65G>A (p.Gly22Asp)
c.3416G>A (p.Gly1139Asp)
c.3512G>A (p.Gly1171Asp)
c.3362G>A (p.Gly1121Asp)
 ClinVar dbSNP
5g.128338081C>ACA360759437FBN2n.298G>T
n.379G>T
c.3514G>T (p.Gly1172Cys)
c.64G>T (p.Gly22Cys)
c.3415G>T (p.Gly1139Cys)
c.3511G>T (p.Gly1171Cys)
c.3361G>T (p.Gly1121Cys)
 ClinVar dbSNP
5g.128338081C=CA1581270746FBN2n.298G=
n.379G=
c.3514G= (p.Gly1172=)
c.64G= (p.Gly22=)
c.3415G= (p.Gly1139=)
c.3511G= (p.Gly1171=)
c.3361G= (p.Gly1121=)
5g.128338081C>GCA360759439FBN2n.298G>C
n.379G>C
c.3514G>C (p.Gly1172Arg)
c.64G>C (p.Gly22Arg)
c.3415G>C (p.Gly1139Arg)
c.3511G>C (p.Gly1171Arg)
c.3361G>C (p.Gly1121Arg)
5g.128338081C>TCA3395206FBN2n.298G>A
n.379G>A
c.3514G>A (p.Gly1172Ser)
c.64G>A (p.Gly22Ser)
c.3415G>A (p.Gly1139Ser)
c.3511G>A (p.Gly1171Ser)
c.3361G>A (p.Gly1121Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128338082A>CCA446310670FBN2n.297T>G
n.378T>G
c.3513T>G (p.Gly1171=)
c.63T>G (p.Gly21=)
c.3414T>G (p.Gly1138=)
c.3510T>G (p.Gly1170=)
c.3360T>G (p.Gly1120=)
5g.128338082A>GCA446310671FBN2n.297T>C
n.378T>C
c.3513T>C (p.Gly1171=)
c.63T>C (p.Gly21=)
c.3414T>C (p.Gly1138=)
c.3510T>C (p.Gly1170=)
c.3360T>C (p.Gly1120=)
5g.128338082A>TCA446310672FBN2n.297T>A
n.378T>A
c.3513T>A (p.Gly1171=)
c.63T>A (p.Gly21=)
c.3414T>A (p.Gly1138=)
c.3510T>A (p.Gly1170=)
c.3360T>A (p.Gly1120=)
5g.128338083C>ACA360759445FBN2n.296G>T
n.377G>T
c.3512G>T (p.Gly1171Val)
c.62G>T (p.Gly21Val)
c.3413G>T (p.Gly1138Val)
c.3509G>T (p.Gly1170Val)
c.3359G>T (p.Gly1120Val)
 dbSNP gnomAD v2 gnomAD v4
5g.128338083C=CA1581270747FBN2n.296G=
n.377G=
c.3512G= (p.Gly1171=)
c.62G= (p.Gly21=)
c.3413G= (p.Gly1138=)
c.3509G= (p.Gly1170=)
c.3359G= (p.Gly1120=)
5g.128338083C>GCA360759447FBN2n.296G>C
n.377G>C
c.3512G>C (p.Gly1171Ala)
c.62G>C (p.Gly21Ala)
c.3413G>C (p.Gly1138Ala)
c.3509G>C (p.Gly1170Ala)
c.3359G>C (p.Gly1120Ala)
 dbSNP
5g.128338083C>TCA360759449FBN2n.296G>A
n.377G>A
c.3512G>A (p.Gly1171Asp)
c.62G>A (p.Gly21Asp)
c.3413G>A (p.Gly1138Asp)
c.3509G>A (p.Gly1170Asp)
c.3359G>A (p.Gly1120Asp)
 gnomAD v4
5g.128338084C>ACA360759451FBN2n.295G>T
n.376G>T
c.3511G>T (p.Gly1171Cys)
c.61G>T (p.Gly21Cys)
c.3412G>T (p.Gly1138Cys)
c.3508G>T (p.Gly1170Cys)
c.3358G>T (p.Gly1120Cys)
5g.128338084C=CA1581270748FBN2n.295G=
n.376G=
c.3511G= (p.Gly1171=)
c.61G= (p.Gly21=)
c.3412G= (p.Gly1138=)
c.3508G= (p.Gly1170=)
c.3358G= (p.Gly1120=)
5g.128338084C>GCA360759453FBN2n.295G>C
n.376G>C
c.3511G>C (p.Gly1171Arg)
c.61G>C (p.Gly21Arg)
c.3412G>C (p.Gly1138Arg)
c.3508G>C (p.Gly1170Arg)
c.3358G>C (p.Gly1120Arg)
5g.128338084C>TCA3395207FBN2n.295G>A
n.376G>A
c.3511G>A (p.Gly1171Ser)
c.61G>A (p.Gly21Ser)
c.3412G>A (p.Gly1138Ser)
c.3508G>A (p.Gly1170Ser)
c.3358G>A (p.Gly1120Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128338085C>ACA360759456FBN2n.294G>T
n.375G>T
c.3510G>T (p.Arg1170Ser)
c.60G>T (p.Arg20Ser)
c.3411G>T (p.Arg1137Ser)
c.3507G>T (p.Arg1169Ser)
c.3357G>T (p.Arg1119Ser)
 gnomAD v4
5g.128338085C>GCA360759458FBN2n.294G>C
n.375G>C
c.3510G>C (p.Arg1170Ser)
c.60G>C (p.Arg20Ser)
c.3411G>C (p.Arg1137Ser)
c.3507G>C (p.Arg1169Ser)
c.3357G>C (p.Arg1119Ser)
5g.128338085C>TCA446310678FBN2n.294G>A
n.375G>A
c.3510G>A (p.Arg1170=)
c.60G>A (p.Arg20=)
c.3411G>A (p.Arg1137=)
c.3507G>A (p.Arg1169=)
c.3357G>A (p.Arg1119=)
5g.128338086C>ACA360759463FBN2n.293G>T
n.374G>T
c.3509G>T (p.Arg1170Met)
c.59G>T (p.Arg20Met)
c.3410G>T (p.Arg1137Met)
c.3506G>T (p.Arg1169Met)
c.3356G>T (p.Arg1119Met)
 COSMIC COSMIC
5g.128338086C=CA1581270749FBN2n.293G=
n.374G=
c.3509G= (p.Arg1170=)
c.59G= (p.Arg20=)
c.3410G= (p.Arg1137=)
c.3506G= (p.Arg1169=)
c.3356G= (p.Arg1119=)
5g.128338086C>GCA360759462FBN2n.293G>C
n.374G>C
c.3509G>C (p.Arg1170Thr)
c.59G>C (p.Arg20Thr)
c.3410G>C (p.Arg1137Thr)
c.3506G>C (p.Arg1169Thr)
c.3356G>C (p.Arg1119Thr)
 dbSNP gnomAD v4
5g.128338086C>TCA360759461FBN2n.293G>A
n.374G>A
c.3509G>A (p.Arg1170Lys)
c.59G>A (p.Arg20Lys)
c.3410G>A (p.Arg1137Lys)
c.3506G>A (p.Arg1169Lys)
c.3356G>A (p.Arg1119Lys)
5g.128338087T>ACA360759465FBN2n.292A>T
n.373A>T
c.3508A>T (p.Arg1170Trp)
c.58A>T (p.Arg20Trp)
c.3409A>T (p.Arg1137Trp)
c.3505A>T (p.Arg1169Trp)
c.3355A>T (p.Arg1119Trp)
 COSMIC COSMIC
5g.128338087T>CCA360759467FBN2n.292A>G
n.373A>G
c.3508A>G (p.Arg1170Gly)
c.58A>G (p.Arg20Gly)
c.3409A>G (p.Arg1137Gly)
c.3505A>G (p.Arg1169Gly)
c.3355A>G (p.Arg1119Gly)
5g.128338087T>GCA446310683FBN2n.292A>C
n.373A>C
c.3508A>C (p.Arg1170=)
c.58A>C (p.Arg20=)
c.3409A>C (p.Arg1137=)
c.3505A>C (p.Arg1169=)
c.3355A>C (p.Arg1119=)
5g.128338088A=CA1581270750FBN2n.291T=
n.372T=
c.3507T= (p.Cys1169=)
c.57T= (p.Cys19=)
c.3408T= (p.Cys1136=)
c.3504T= (p.Cys1168=)
c.3354T= (p.Cys1118=)
5g.128338088A>CCA360759469FBN2n.291T>G
n.372T>G
c.3507T>G (p.Cys1169Trp)
c.57T>G (p.Cys19Trp)
c.3408T>G (p.Cys1136Trp)
c.3504T>G (p.Cys1168Trp)
c.3354T>G (p.Cys1118Trp)
5g.128338088A>GCA446310684FBN2n.291T>C
n.372T>C
c.3507T>C (p.Cys1169=)
c.57T>C (p.Cys19=)
c.3408T>C (p.Cys1136=)
c.3504T>C (p.Cys1168=)
c.3354T>C (p.Cys1118=)
 ClinVar dbSNP
5g.128338088A>TCA360759470FBN2n.291T>A
n.372T>A
c.3507T>A (p.Cys1169Ter)
c.57T>A (p.Cys19Ter)
c.3408T>A (p.Cys1136Ter)
c.3504T>A (p.Cys1168Ter)
c.3354T>A (p.Cys1118Ter)
5g.128338089C>ACA360759472FBN2n.290G>T
n.371G>T
c.3506G>T (p.Cys1169Phe)
c.56G>T (p.Cys19Phe)
c.3407G>T (p.Cys1136Phe)
c.3503G>T (p.Cys1168Phe)
c.3353G>T (p.Cys1118Phe)
5g.128338089C>GCA360759474FBN2n.290G>C
n.371G>C
c.3506G>C (p.Cys1169Ser)
c.56G>C (p.Cys19Ser)
c.3407G>C (p.Cys1136Ser)
c.3503G>C (p.Cys1168Ser)
c.3353G>C (p.Cys1118Ser)
5g.128338089C>TCA360759476FBN2n.290G>A
n.371G>A
c.3506G>A (p.Cys1169Tyr)
c.56G>A (p.Cys19Tyr)
c.3407G>A (p.Cys1136Tyr)
c.3503G>A (p.Cys1168Tyr)
c.3353G>A (p.Cys1118Tyr)
5g.128338090A>CCA360759478FBN2n.289T>G
n.370T>G
c.3505T>G (p.Cys1169Gly)
c.55T>G (p.Cys19Gly)
c.3406T>G (p.Cys1136Gly)
c.3502T>G (p.Cys1168Gly)
c.3352T>G (p.Cys1118Gly)
5g.128338090A>GCA360759480FBN2n.289T>C
n.370T>C
c.3505T>C (p.Cys1169Arg)
c.55T>C (p.Cys19Arg)
c.3406T>C (p.Cys1136Arg)
c.3502T>C (p.Cys1168Arg)
c.3352T>C (p.Cys1118Arg)
 ClinVar
5g.128338090A>TCA360759481FBN2n.289T>A
n.370T>A
c.3505T>A (p.Cys1169Ser)
c.55T>A (p.Cys19Ser)
c.3406T>A (p.Cys1136Ser)
c.3502T>A (p.Cys1168Ser)
c.3352T>A (p.Cys1118Ser)
5g.128338091A>CCA446310690FBN2n.288T>G
n.369T>G
c.3504T>G (p.Leu1168=)
c.54T>G (p.Leu18=)
c.3405T>G (p.Leu1135=)
c.3501T>G (p.Leu1167=)
c.3351T>G (p.Leu1117=)
5g.128338091A>GCA446310691FBN2n.288T>C
n.369T>C
c.3504T>C (p.Leu1168=)
c.54T>C (p.Leu18=)
c.3405T>C (p.Leu1135=)
c.3501T>C (p.Leu1167=)
c.3351T>C (p.Leu1117=)
5g.128338091A>TCA446310692FBN2n.288T>A
n.369T>A
c.3504T>A (p.Leu1168=)
c.54T>A (p.Leu18=)
c.3405T>A (p.Leu1135=)
c.3501T>A (p.Leu1167=)
c.3351T>A (p.Leu1117=)
5g.128338092A=CA1581270751FBN2n.287T=
n.368T=
c.3503T= (p.Leu1168=)
c.53T= (p.Leu18=)
c.3404T= (p.Leu1135=)
c.3500T= (p.Leu1167=)
c.3350T= (p.Leu1117=)
5g.128338092A>CCA360759483FBN2n.287T>G
n.368T>G
c.3503T>G (p.Leu1168Arg)
c.53T>G (p.Leu18Arg)
c.3404T>G (p.Leu1135Arg)
c.3500T>G (p.Leu1167Arg)
c.3350T>G (p.Leu1117Arg)
5g.128338092A>GCA3395208FBN2n.287T>C
n.368T>C
c.3503T>C (p.Leu1168Pro)
c.53T>C (p.Leu18Pro)
c.3404T>C (p.Leu1135Pro)
c.3500T>C (p.Leu1167Pro)
c.3350T>C (p.Leu1117Pro)
 dbSNP ExAC
5g.128338092A>TCA360759485FBN2n.287T>A
n.368T>A
c.3503T>A (p.Leu1168His)
c.53T>A (p.Leu18His)
c.3404T>A (p.Leu1135His)
c.3500T>A (p.Leu1167His)
c.3350T>A (p.Leu1117His)
5g.128338093G>ACA360759491FBN2n.286C>T
n.367C>T
c.3502C>T (p.Leu1168Phe)
c.52C>T (p.Leu18Phe)
c.3403C>T (p.Leu1135Phe)
c.3499C>T (p.Leu1167Phe)
c.3349C>T (p.Leu1117Phe)
5g.128338093G>CCA360759490FBN2n.286C>G
n.367C>G
c.3502C>G (p.Leu1168Val)
c.52C>G (p.Leu18Val)
c.3403C>G (p.Leu1135Val)
c.3499C>G (p.Leu1167Val)
c.3349C>G (p.Leu1117Val)
5g.128338093G>TCA360759488FBN2n.286C>A
n.367C>A
c.3502C>A (p.Leu1168Ile)
c.52C>A (p.Leu18Ile)
c.3403C>A (p.Leu1135Ile)
c.3499C>A (p.Leu1167Ile)
c.3349C>A (p.Leu1117Ile)
5g.128338094G>ACA446310696FBN2n.285C>T
n.366C>T
c.3501C>T (p.Leu1167=)
c.51C>T (p.Leu17=)
c.3402C>T (p.Leu1134=)
c.3498C>T (p.Leu1166=)
c.3348C>T (p.Leu1116=)
5g.128338094G>CCA446310695FBN2n.285C>G
n.366C>G
c.3501C>G (p.Leu1167=)
c.51C>G (p.Leu17=)
c.3402C>G (p.Leu1134=)
c.3498C>G (p.Leu1166=)
c.3348C>G (p.Leu1116=)
 ClinVar dbSNP gnomAD v4
5g.128338094G>TCA446310698FBN2n.285C>A
n.366C>A
c.3501C>A (p.Leu1167=)
c.51C>A (p.Leu17=)
c.3402C>A (p.Leu1134=)
c.3498C>A (p.Leu1166=)
c.3348C>A (p.Leu1116=)
5g.128338095A>CCA360759497FBN2n.284T>G
n.365T>G
c.3500T>G (p.Leu1167Arg)
c.50T>G (p.Leu17Arg)
c.3401T>G (p.Leu1134Arg)
c.3497T>G (p.Leu1166Arg)
c.3347T>G (p.Leu1116Arg)
5g.128338095A>GCA360759495FBN2n.284T>C
n.365T>C
c.3500T>C (p.Leu1167Pro)
c.50T>C (p.Leu17Pro)
c.3401T>C (p.Leu1134Pro)
c.3497T>C (p.Leu1166Pro)
c.3347T>C (p.Leu1116Pro)
5g.128338095A>TCA360759498FBN2n.284T>A
n.365T>A
c.3500T>A (p.Leu1167His)
c.50T>A (p.Leu17His)
c.3401T>A (p.Leu1134His)
c.3497T>A (p.Leu1166His)
c.3347T>A (p.Leu1116His)
5g.128338096G>ACA360759499FBN2n.283C>T
n.364C>T
c.3499C>T (p.Leu1167Phe)
c.49C>T (p.Leu17Phe)
c.3400C>T (p.Leu1134Phe)
c.3496C>T (p.Leu1166Phe)
c.3346C>T (p.Leu1116Phe)
5g.128338096G>CCA3395209FBN2n.283C>G
n.364C>G
c.3499C>G (p.Leu1167Val)
c.49C>G (p.Leu17Val)
c.3400C>G (p.Leu1134Val)
c.3496C>G (p.Leu1166Val)
c.3346C>G (p.Leu1116Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128338096G=CA1581270752FBN2n.283C=
n.364C=
c.3499C= (p.Leu1167=)
c.49C= (p.Leu17=)
c.3400C= (p.Leu1134=)
c.3496C= (p.Leu1166=)
c.3346C= (p.Leu1116=)
5g.128338096G>TCA360759500FBN2n.283C>A
n.364C>A
c.3499C>A (p.Leu1167Ile)
c.49C>A (p.Leu17Ile)
c.3400C>A (p.Leu1134Ile)
c.3496C>A (p.Leu1166Ile)
c.3346C>A (p.Leu1116Ile)
5g.128338097A>CCA446310704FBN2n.282T>G
n.363T>G
c.3498T>G (p.Pro1166=)
c.48T>G (p.Pro16=)
c.3399T>G (p.Pro1133=)
c.3495T>G (p.Pro1165=)
c.3345T>G (p.Pro1115=)
5g.128338097A>GCA446310705FBN2n.282T>C
n.363T>C
c.3498T>C (p.Pro1166=)
c.48T>C (p.Pro16=)
c.3399T>C (p.Pro1133=)
c.3495T>C (p.Pro1165=)
c.3345T>C (p.Pro1115=)
 gnomAD v4
5g.128338097A>TCA446310707FBN2n.282T>A
n.363T>A
c.3498T>A (p.Pro1166=)
c.48T>A (p.Pro16=)
c.3399T>A (p.Pro1133=)
c.3495T>A (p.Pro1165=)
c.3345T>A (p.Pro1115=)
5g.128338098G>ACA360759504FBN2n.281C>T
n.362C>T
c.3497C>T (p.Pro1166Leu)
c.47C>T (p.Pro16Leu)
c.3398C>T (p.Pro1133Leu)
c.3494C>T (p.Pro1165Leu)
c.3344C>T (p.Pro1115Leu)
 gnomAD v4
5g.128338098G>CCA360759508FBN2n.281C>G
n.362C>G
c.3497C>G (p.Pro1166Arg)
c.47C>G (p.Pro16Arg)
c.3398C>G (p.Pro1133Arg)
c.3494C>G (p.Pro1165Arg)
c.3344C>G (p.Pro1115Arg)
5g.128338098G>TCA360759506FBN2n.281C>A
n.362C>A
c.3497C>A (p.Pro1166His)
c.47C>A (p.Pro16His)
c.3398C>A (p.Pro1133His)
c.3494C>A (p.Pro1165His)
c.3344C>A (p.Pro1115His)
5g.128338099G>ACA360759510FBN2n.280C>T
n.361C>T
c.3496C>T (p.Pro1166Ser)
c.46C>T (p.Pro16Ser)
c.3397C>T (p.Pro1133Ser)
c.3493C>T (p.Pro1165Ser)
c.3343C>T (p.Pro1115Ser)
5g.128338099G>CCA360759519FBN2n.280C>G
n.361C>G
c.3496C>G (p.Pro1166Ala)
c.46C>G (p.Pro16Ala)
c.3397C>G (p.Pro1133Ala)
c.3493C>G (p.Pro1165Ala)
c.3343C>G (p.Pro1115Ala)
5g.128338099G=CA1581270753FBN2n.280C=
n.361C=
c.3496C= (p.Pro1166=)
c.46C= (p.Pro16=)
c.3397C= (p.Pro1133=)
c.3493C= (p.Pro1165=)
c.3343C= (p.Pro1115=)
5g.128338099G>TCA360759518FBN2n.280C>A
n.361C>A
c.3496C>A (p.Pro1166Thr)
c.46C>A (p.Pro16Thr)
c.3397C>A (p.Pro1133Thr)
c.3493C>A (p.Pro1165Thr)
c.3343C>A (p.Pro1115Thr)
 dbSNP gnomAD v4
5g.128338100G>ACA446310712FBN2n.279C>T
n.360C>T
c.3495C>T (p.Asn1165=)
c.45C>T (p.Asn15=)
c.3396C>T (p.Asn1132=)
c.3492C>T (p.Asn1164=)
c.3342C>T (p.Asn1114=)
 dbSNP
5g.128338100G>CCA360759522FBN2n.279C>G
n.360C>G
c.3495C>G (p.Asn1165Lys)
c.45C>G (p.Asn15Lys)
c.3396C>G (p.Asn1132Lys)
c.3492C>G (p.Asn1164Lys)
c.3342C>G (p.Asn1114Lys)
 ClinVar dbSNP
5g.128338100G=CA1581270754FBN2n.279C=
n.360C=
c.3495C= (p.Asn1165=)
c.45C= (p.Asn15=)
c.3396C= (p.Asn1132=)
c.3492C= (p.Asn1164=)
c.3342C= (p.Asn1114=)
5g.128338100G>TCA3395210FBN2n.279C>A
n.360C>A
c.3495C>A (p.Asn1165Lys)
c.45C>A (p.Asn15Lys)
c.3396C>A (p.Asn1132Lys)
c.3492C>A (p.Asn1164Lys)
c.3342C>A (p.Asn1114Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.128338101T>ACA360759526FBN2n.278A>T
n.359A>T
c.3494A>T (p.Asn1165Ile)
c.44A>T (p.Asn15Ile)
c.3395A>T (p.Asn1132Ile)
c.3491A>T (p.Asn1164Ile)
c.3341A>T (p.Asn1114Ile)
5g.128338101T>CCA360759527FBN2n.278A>G
n.359A>G
c.3494A>G (p.Asn1165Ser)
c.44A>G (p.Asn15Ser)
c.3395A>G (p.Asn1132Ser)
c.3491A>G (p.Asn1164Ser)
c.3341A>G (p.Asn1114Ser)
 gnomAD v4
5g.128338101T>GCA360759529FBN2n.278A>C
n.359A>C
c.3494A>C (p.Asn1165Thr)
c.44A>C (p.Asn15Thr)
c.3395A>C (p.Asn1132Thr)
c.3491A>C (p.Asn1164Thr)
c.3341A>C (p.Asn1114Thr)

Number of alleles fetched