Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128337981G>ACA2578444149FBN2n.382+16C>T
n.463+16C>T
c.3598+16C>T (n.3598+16C>T)
c.148+16C>T (n.148+16C>T)
c.3499+16C>T (n.3499+16C>T)
c.3595+16C>T (n.3595+16C>T)
c.3445+16C>T (n.3445+16C>T)
5g.128337981G>TCA2675117523FBN2n.382+16C>A
n.463+16C>A
c.3598+16C>A (n.3598+16C>A)
c.148+16C>A (n.148+16C>A)
c.3499+16C>A (n.3499+16C>A)
c.3595+16C>A (n.3595+16C>A)
c.3445+16C>A (n.3445+16C>A)
 gnomAD v4
5g.128337983G>TCA2568632814FBN2n.382+14C>A
n.463+14C>A
c.3598+14C>A (n.3598+14C>A)
c.148+14C>A (n.148+14C>A)
c.3499+14C>A (n.3499+14C>A)
c.3595+14C>A (n.3595+14C>A)
c.3445+14C>A (n.3445+14C>A)
5g.128337985A=CA1581270710FBN2n.382+12T=
n.463+12T=
c.3598+12T= (n.3598+12T=)
c.148+12T= (n.148+12T=)
c.3499+12T= (n.3499+12T=)
c.3595+12T= (n.3595+12T=)
c.3445+12T= (n.3445+12T=)
5g.128337985A>CCA2675117524FBN2n.382+12T>G
n.463+12T>G
c.3598+12T>G (n.3598+12T>G)
c.148+12T>G (n.148+12T>G)
c.3499+12T>G (n.3499+12T>G)
c.3595+12T>G (n.3595+12T>G)
c.3445+12T>G (n.3445+12T>G)
 gnomAD v4
5g.128337985A>GCA803638567FBN2n.382+12T>C
n.463+12T>C
c.3598+12T>C (n.3598+12T>C)
c.148+12T>C (n.148+12T>C)
c.3499+12T>C (n.3499+12T>C)
c.3595+12T>C (n.3595+12T>C)
c.3445+12T>C (n.3445+12T>C)
 dbSNP
5g.128337986G>CCA1081360224FBN2n.382+11C>G
n.463+11C>G
c.3598+11C>G (n.3598+11C>G)
c.148+11C>G (n.148+11C>G)
c.3499+11C>G (n.3499+11C>G)
c.3595+11C>G (n.3595+11C>G)
c.3445+11C>G (n.3445+11C>G)
 dbSNP gnomAD v3 gnomAD v4
5g.128337986G=CA1581270711FBN2n.382+11C=
n.463+11C=
c.3598+11C= (n.3598+11C=)
c.148+11C= (n.148+11C=)
c.3499+11C= (n.3499+11C=)
c.3595+11C= (n.3595+11C=)
c.3445+11C= (n.3445+11C=)
5g.128337988T>ACA3395191FBN2n.382+9A>T
n.463+9A>T
c.3598+9A>T (n.3598+9A>T)
c.148+9A>T (n.148+9A>T)
c.3499+9A>T (n.3499+9A>T)
c.3595+9A>T (n.3595+9A>T)
c.3445+9A>T (n.3445+9A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128337988T=CA1581270712FBN2n.382+9A=
n.463+9A=
c.3598+9A= (n.3598+9A=)
c.148+9A= (n.148+9A=)
c.3499+9A= (n.3499+9A=)
c.3595+9A= (n.3595+9A=)
c.3445+9A= (n.3445+9A=)
5g.128337991A>CCA2739275020FBN2n.382+6T>G
n.463+6T>G
c.3598+6T>G (n.3598+6T>G)
c.148+6T>G (n.148+6T>G)
c.3499+6T>G (n.3499+6T>G)
c.3595+6T>G (n.3595+6T>G)
c.3445+6T>G (n.3445+6T>G)
 ClinVar
5g.128337995A>CCA360759046FBN2n.382+2T>G
n.463+2T>G
c.3598+2T>G (n.3598+2T>G)
c.148+2T>G (n.148+2T>G)
c.3499+2T>G (n.3499+2T>G)
c.3595+2T>G (n.3595+2T>G)
c.3445+2T>G (n.3445+2T>G)
5g.128337995A>GCA360759048FBN2n.382+2T>C
n.463+2T>C
c.3598+2T>C (n.3598+2T>C)
c.148+2T>C (n.148+2T>C)
c.3499+2T>C (n.3499+2T>C)
c.3595+2T>C (n.3595+2T>C)
c.3445+2T>C (n.3445+2T>C)
5g.128337995A>TCA360759050FBN2n.382+2T>A
n.463+2T>A
c.3598+2T>A (n.3598+2T>A)
c.148+2T>A (n.148+2T>A)
c.3499+2T>A (n.3499+2T>A)
c.3595+2T>A (n.3595+2T>A)
c.3445+2T>A (n.3445+2T>A)
5g.128337996C>ACA360759053FBN2n.382+1G>T
n.463+1G>T
c.3598+1G>T (n.3598+1G>T)
c.148+1G>T (n.148+1G>T)
c.3499+1G>T (n.3499+1G>T)
c.3595+1G>T (n.3595+1G>T)
c.3445+1G>T (n.3445+1G>T)
5g.128337996C>GCA360759056FBN2n.382+1G>C
n.463+1G>C
c.3598+1G>C (n.3598+1G>C)
c.148+1G>C (n.148+1G>C)
c.3499+1G>C (n.3499+1G>C)
c.3595+1G>C (n.3595+1G>C)
c.3445+1G>C (n.3445+1G>C)
5g.128337996C>TCA360759058FBN2n.382+1G>A
n.463+1G>A
c.3598+1G>A (n.3598+1G>A)
c.148+1G>A (n.148+1G>A)
c.3499+1G>A (n.3499+1G>A)
c.3595+1G>A (n.3595+1G>A)
c.3445+1G>A (n.3445+1G>A)
5g.128337997C>ACA360759062FBN2n.382G>T
n.463G>T
c.3598G>T (p.Asp1200Tyr)
c.148G>T (p.Asp50Tyr)
c.3499G>T (p.Asp1167Tyr)
c.3595G>T (p.Asp1199Tyr)
c.3445G>T (p.Asp1149Tyr)
5g.128337997C>GCA360759064FBN2n.382G>C
n.463G>C
c.3598G>C (p.Asp1200His)
c.148G>C (p.Asp50His)
c.3499G>C (p.Asp1167His)
c.3595G>C (p.Asp1199His)
c.3445G>C (p.Asp1149His)
5g.128337997C>TCA360759067FBN2n.382G>A
n.463G>A
c.3598G>A (p.Asp1200Asn)
c.148G>A (p.Asp50Asn)
c.3499G>A (p.Asp1167Asn)
c.3595G>A (p.Asp1199Asn)
c.3445G>A (p.Asp1149Asn)
5g.128337998C>ACA446310535FBN2n.381G>T
n.462G>T
c.3597G>T (p.Val1199=)
c.147G>T (p.Val49=)
c.3498G>T (p.Val1166=)
c.3594G>T (p.Val1198=)
c.3444G>T (p.Val1148=)
 dbSNP gnomAD v4
5g.128337998C=CA1581270713FBN2n.381G=
n.462G=
c.3597G= (p.Val1199=)
c.147G= (p.Val49=)
c.3498G= (p.Val1166=)
c.3594G= (p.Val1198=)
c.3444G= (p.Val1148=)
5g.128337998C>GCA446310537FBN2n.381G>C
n.462G>C
c.3597G>C (p.Val1199=)
c.147G>C (p.Val49=)
c.3498G>C (p.Val1166=)
c.3594G>C (p.Val1198=)
c.3444G>C (p.Val1148=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128337998C>TCA446310536FBN2n.381G>A
n.462G>A
c.3597G>A (p.Val1199=)
c.147G>A (p.Val49=)
c.3498G>A (p.Val1166=)
c.3594G>A (p.Val1198=)
c.3444G>A (p.Val1148=)
 dbSNP gnomAD v4
5g.128337999A=CA1581270714FBN2n.380T=
n.461T=
c.3596T= (p.Val1199=)
c.146T= (p.Val49=)
c.3497T= (p.Val1166=)
c.3593T= (p.Val1198=)
c.3443T= (p.Val1148=)
5g.128337999A>CCA360759071FBN2n.380T>G
n.461T>G
c.3596T>G (p.Val1199Gly)
c.146T>G (p.Val49Gly)
c.3497T>G (p.Val1166Gly)
c.3593T>G (p.Val1198Gly)
c.3443T>G (p.Val1148Gly)
5g.128337999A>GCA3395192FBN2n.380T>C
n.461T>C
c.3596T>C (p.Val1199Ala)
c.146T>C (p.Val49Ala)
c.3497T>C (p.Val1166Ala)
c.3593T>C (p.Val1198Ala)
c.3443T>C (p.Val1148Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128337999A>TCA360759069FBN2n.380T>A
n.461T>A
c.3596T>A (p.Val1199Glu)
c.146T>A (p.Val49Glu)
c.3497T>A (p.Val1166Glu)
c.3593T>A (p.Val1198Glu)
c.3443T>A (p.Val1148Glu)
5g.128338000C>ACA360759077FBN2n.379G>T
n.460G>T
c.3595G>T (p.Val1199Leu)
c.145G>T (p.Val49Leu)
c.3496G>T (p.Val1166Leu)
c.3592G>T (p.Val1198Leu)
c.3442G>T (p.Val1148Leu)
5g.128338000C=CA1581270715FBN2n.379G=
n.460G=
c.3595G= (p.Val1199=)
c.145G= (p.Val49=)
c.3496G= (p.Val1166=)
c.3592G= (p.Val1198=)
c.3442G= (p.Val1148=)
5g.128338000C>GCA360759080FBN2n.379G>C
n.460G>C
c.3595G>C (p.Val1199Leu)
c.145G>C (p.Val49Leu)
c.3496G>C (p.Val1166Leu)
c.3592G>C (p.Val1198Leu)
c.3442G>C (p.Val1148Leu)
5g.128338000C>TCA3395193FBN2n.379G>A
n.460G>A
c.3595G>A (p.Val1199Met)
c.145G>A (p.Val49Met)
c.3496G>A (p.Val1166Met)
c.3592G>A (p.Val1198Met)
c.3442G>A (p.Val1148Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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)

Number of alleles fetched