Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.48463878C>ACA269548231FBN1c.5065+21G>T (n.5065+21G>T)
n.3739+21G>T
c.64+21G>T (n.64+21G>T)
c.*828+21G>T (n.*828+21G>T)
c.372+21G>T
 dbSNP gnomAD v3 gnomAD v4
15g.48463878C=CA2175516079FBN1c.5065+21G= (n.5065+21G=)
n.3739+21G=
c.64+21G= (n.64+21G=)
c.*828+21G= (n.*828+21G=)
c.372+21G=
15g.48463878C>TCA054173FBN1c.5065+21G>A (n.5065+21G>A)
n.3739+21G>A
c.64+21G>A (n.64+21G>A)
c.*828+21G>A (n.*828+21G>A)
c.372+21G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48463879T>ACA2804071328FBN1c.5065+20A>T (n.5065+20A>T)
n.3739+20A>T
c.64+20A>T (n.64+20A>T)
c.*828+20A>T (n.*828+20A>T)
c.372+20A>T
15g.48463879T>CCA2628332798FBN1c.5065+20A>G (n.5065+20A>G)
n.3739+20A>G
c.64+20A>G (n.64+20A>G)
c.*828+20A>G (n.*828+20A>G)
c.372+20A>G
 gnomAD v4
15g.48463879T>GCA2575716856FBN1c.5065+20A>C (n.5065+20A>C)
n.3739+20A>C
c.64+20A>C (n.64+20A>C)
c.*828+20A>C (n.*828+20A>C)
c.372+20A>C
 gnomAD v4
15g.48463880G>ACA2804071330FBN1c.5065+19C>T (n.5065+19C>T)
n.3739+19C>T
c.64+19C>T (n.64+19C>T)
c.*828+19C>T (n.*828+19C>T)
c.372+19C>T
15g.48463880G>CCA969557688FBN1c.5065+19C>G (n.5065+19C>G)
n.3739+19C>G
c.64+19C>G (n.64+19C>G)
c.*828+19C>G (n.*828+19C>G)
c.372+19C>G
 dbSNP gnomAD v3 gnomAD v4
15g.48463880G=CA2175516082FBN1c.5065+19C= (n.5065+19C=)
n.3739+19C=
c.64+19C= (n.64+19C=)
c.*828+19C= (n.*828+19C=)
c.372+19C=
15g.48463882G>ACA713405544FBN1c.5065+17C>T (n.5065+17C>T)
n.3739+17C>T
c.64+17C>T (n.64+17C>T)
c.*828+17C>T (n.*828+17C>T)
c.372+17C>T
 dbSNP gnomAD v4
15g.48463882G=CA2175516084FBN1c.5065+17C= (n.5065+17C=)
n.3739+17C=
c.64+17C= (n.64+17C=)
c.*828+17C= (n.*828+17C=)
c.372+17C=
15g.48463882G>TCA656135855FBN1c.5065+17C>A (n.5065+17C>A)
n.3739+17C>A
c.64+17C>A (n.64+17C>A)
c.*828+17C>A (n.*828+17C>A)
c.372+17C>A
 COSMIC
15g.48463882_48463883delinsGACA2175516083FBN1c.5065+16_5065+17delinsTC (n.5065+16_5065+17delinsTC)
n.3739+16_3739+17delinsTC
c.64+16_64+17delinsTC (n.64+16_64+17delinsTC)
c.*828+16_*828+17delinsTC (n.*828+16_*828+17delinsTC)
c.372+16_372+17delinsTC
15g.48463883A=CA2175516086FBN1c.5065+16T= (n.5065+16T=)
n.3739+16T=
c.64+16T= (n.64+16T=)
c.*828+16T= (n.*828+16T=)
c.372+16T=
15g.48463883A>GCA054166FBN1c.5065+16T>C (n.5065+16T>C)
n.3739+16T>C
c.64+16T>C (n.64+16T>C)
c.*828+16T>C (n.*828+16T>C)
c.372+16T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48463886delCA617839860FBN1c.5065+16del (n.5065+16del)
n.3739+16del
c.64+16del (n.64+16del)
c.*828+16del (n.*828+16del)
c.372+16del
 dbSNP gnomAD v2 gnomAD v4
15g.48463886A=CA2175516088FBN1c.5065+13T= (n.5065+13T=)
n.3739+13T=
c.64+13T= (n.64+13T=)
c.*828+13T= (n.*828+13T=)
c.372+13T=
15g.48463886A>TCA2175516089FBN1c.5065+13T>A (n.5065+13T>A)
n.3739+13T>A
c.64+13T>A (n.64+13T>A)
c.*828+13T>A (n.*828+13T>A)
c.372+13T>A
 dbSNP
15g.48463887G>ACA2175516091FBN1c.5065+12C>T (n.5065+12C>T)
n.3739+12C>T
c.64+12C>T (n.64+12C>T)
c.*828+12C>T (n.*828+12C>T)
c.372+12C>T
 dbSNP
15g.48463887G=CA2175516090FBN1c.5065+12C= (n.5065+12C=)
n.3739+12C=
c.64+12C= (n.64+12C=)
c.*828+12C= (n.*828+12C=)
c.372+12C=
15g.48463888C>TCA2628332799FBN1c.5065+11G>A (n.5065+11G>A)
n.3739+11G>A
c.64+11G>A (n.64+11G>A)
c.*828+11G>A (n.*828+11G>A)
c.372+11G>A
 gnomAD v4
15g.48463889T>CCA015569FBN1c.5065+10A>G (n.5065+10A>G)
n.3739+10A>G
c.64+10A>G (n.64+10A>G)
c.*828+10A>G (n.*828+10A>G)
c.372+10A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48463889T=CA2175516092FBN1c.5065+10A= (n.5065+10A=)
n.3739+10A=
c.64+10A= (n.64+10A=)
c.*828+10A= (n.*828+10A=)
c.372+10A=
15g.48463890T>GCA2628332800FBN1c.5065+9A>C (n.5065+9A>C)
n.3739+9A>C
c.64+9A>C (n.64+9A>C)
c.*828+9A>C (n.*828+9A>C)
c.372+9A>C
 gnomAD v4
15g.48463891G>CCA2628332801FBN1c.5065+8C>G (n.5065+8C>G)
n.3739+8C>G
c.64+8C>G (n.64+8C>G)
c.*828+8C>G (n.*828+8C>G)
c.372+8C>G
 gnomAD v4
15g.48463892_48463896delCA2695220530FBN1c.5065+3_5065+7del (n.5065+3_5065+7del)
n.3739+3_3739+7del
c.64+3_64+7del (n.64+3_64+7del)
c.*828+3_*828+7del (n.*828+3_*828+7del)
c.372+3_372+7del
15g.48463894C>ACA2175516095FBN1c.5065+5G>T (n.5065+5G>T)
n.3739+5G>T
c.64+5G>T (n.64+5G>T)
c.*828+5G>T (n.*828+5G>T)
c.372+5G>T
 dbSNP gnomAD v4
15g.48463894C=CA2175516097FBN1c.5065+5G= (n.5065+5G=)
n.3739+5G=
c.64+5G= (n.64+5G=)
c.*828+5G= (n.*828+5G=)
c.372+5G=
15g.48463894C>TCA054212FBN1c.5065+5G>A (n.5065+5G>A)
n.3739+5G>A
c.64+5G>A (n.64+5G>A)
c.*828+5G>A (n.*828+5G>A)
c.372+5G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48463895T>ACA617839873FBN1c.5065+4A>T (n.5065+4A>T)
n.3739+4A>T
c.64+4A>T (n.64+4A>T)
c.*828+4A>T (n.*828+4A>T)
c.372+4A>T
 dbSNP gnomAD v2 gnomAD v4
15g.48463895T>CCA054198FBN1c.5065+4A>G (n.5065+4A>G)
n.3739+4A>G
c.64+4A>G (n.64+4A>G)
c.*828+4A>G (n.*828+4A>G)
c.372+4A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48463895T=CA2175516098FBN1c.5065+4A= (n.5065+4A=)
n.3739+4A=
c.64+4A= (n.64+4A=)
c.*828+4A= (n.*828+4A=)
c.372+4A=
15g.48463896T>ACA2628332804FBN1c.5065+3A>T (n.5065+3A>T)
n.3739+3A>T
c.64+3A>T (n.64+3A>T)
c.*828+3A>T (n.*828+3A>T)
c.372+3A>T
 gnomAD v4
15g.48463896T=CA2175516100FBN1c.5065+3A= (n.5065+3A=)
n.3739+3A=
c.64+3A= (n.64+3A=)
c.*828+3A= (n.*828+3A=)
c.372+3A=
15g.48463897A>CCA392349471FBN1c.5065+2T>G (n.5065+2T>G)
n.3739+2T>G
c.64+2T>G (n.64+2T>G)
c.*828+2T>G (n.*828+2T>G)
c.372+2T>G
15g.48463897A>GCA392349469FBN1c.5065+2T>C (n.5065+2T>C)
n.3739+2T>C
c.64+2T>C (n.64+2T>C)
c.*828+2T>C (n.*828+2T>C)
c.372+2T>C
15g.48463897A>TCA392349468FBN1c.5065+2T>A (n.5065+2T>A)
n.3739+2T>A
c.64+2T>A (n.64+2T>A)
c.*828+2T>A (n.*828+2T>A)
c.372+2T>A
15g.48463897dupCA658798355FBN1c.5065+2dup (n.5065+2dup)
n.3739+2dup
c.64+2dup (n.64+2dup)
c.*828+2dup (n.*828+2dup)
c.372+2dup
 ClinVar dbSNP
15g.48463898C>ACA392349477FBN1c.5065+1G>T (n.5065+1G>T)
n.3739+1G>T
c.64+1G>T (n.64+1G>T)
c.*828+1G>T (n.*828+1G>T)
c.372+1G>T
 ClinVar dbSNP
15g.48463898C=CA2175516105FBN1c.5065+1G= (n.5065+1G=)
n.3739+1G=
c.64+1G= (n.64+1G=)
c.*828+1G= (n.*828+1G=)
c.372+1G=
15g.48463898C>GCA392349479FBN1c.5065+1G>C (n.5065+1G>C)
n.3739+1G>C
c.64+1G>C (n.64+1G>C)
c.*828+1G>C (n.*828+1G>C)
c.372+1G>C
 ClinVar dbSNP
15g.48463898C>TCA392349480FBN1c.5065+1G>A (n.5065+1G>A)
n.3739+1G>A
c.64+1G>A (n.64+1G>A)
c.*828+1G>A (n.*828+1G>A)
c.372+1G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.48463900dupCA2695220531FBN1c.5065+1dup
n.3739+1dup
c.64+1dup
c.*828+1dup
c.372+1dup
15g.48463899C>ACA392349484FBN1c.5065G>T (p.Asp1689Tyr)
n.3739G>T
c.64G>T (p.Asp22Tyr)
c.*828G>T (n.*828G>T)
c.372G>T
15g.48463899C>GCA392349486FBN1c.5065G>C (p.Asp1689His)
n.3739G>C
c.64G>C (p.Asp22His)
c.*828G>C (n.*828G>C)
c.372G>C
15g.48463899C>TCA392349488FBN1c.5065G>A (p.Asp1689Asn)
n.3739G>A
c.64G>A (p.Asp22Asn)
c.*828G>A (n.*828G>A)
c.372G>A
15g.48463900C>ACA392349490FBN1c.5064G>T (p.Met1688Ile)
n.3738G>T
c.63G>T (p.Met21Ile)
c.*827G>T (n.*827G>T)
c.371G>T
 ClinVar dbSNP
15g.48463900C>GCA392349496FBN1c.5064G>C (p.Met1688Ile)
n.3738G>C
c.63G>C (p.Met21Ile)
c.*827G>C (n.*827G>C)
c.371G>C
15g.48463900C>TCA392349492FBN1c.5064G>A (p.Met1688Ile)
n.3738G>A
c.63G>A (p.Met21Ile)
c.*827G>A (n.*827G>A)
c.371G>A
15g.48463901delCA2695220532FBN1c.5063del (p.Met1688ArgfsTer3)
n.3737del
c.62del (p.Met21ArgfsTer3)
c.*826del (n.*826del)
c.370del
15g.48463901A=CA2175516112FBN1c.5063T= (p.Met1688=)
n.3737T=
c.62T= (p.Met21=)
c.*826T= (n.*826T=)
c.370T=
15g.48463901A>CCA392349497FBN1c.5063T>G (p.Met1688Arg)
n.3737T>G
c.62T>G (p.Met21Arg)
c.*826T>G (n.*826T>G)
c.370T>G
15g.48463901A>GCA054155FBN1c.5063T>C (p.Met1688Thr)
n.3737T>C
c.62T>C (p.Met21Thr)
c.*826T>C (n.*826T>C)
c.370T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48463901A>TCA392349498FBN1c.5063T>A (p.Met1688Lys)
n.3737T>A
c.62T>A (p.Met21Lys)
c.*826T>A (n.*826T>A)
c.370T>A
15g.48463901_48463902delinsATCA2175516110FBN1c.5062_5063delinsAT (p.Met1688=)
n.3736_3737delinsAT
c.61_62delinsAT (p.Met21=)
c.*825_*826delinsAT (n.*825_*826delinsAT)
c.369_370delinsAT
15g.48463902delCA658798356FBN1c.5062del (p.Met1688TrpfsTer3)
n.3736del
c.61del (p.Met21TrpfsTer3)
c.*825del (n.*825del)
c.369del
 ClinVar dbSNP
15g.48463902T>ACA392349503FBN1c.5062A>T (p.Met1688Leu)
n.3736A>T
c.61A>T (p.Met21Leu)
c.*825A>T (n.*825A>T)
c.369A>T
15g.48463902T>CCA392349506FBN1c.5062A>G (p.Met1688Val)
n.3736A>G
c.61A>G (p.Met21Val)
c.*825A>G (n.*825A>G)
c.369A>G
 ClinVar dbSNP
15g.48463902T>GCA392349509FBN1c.5062A>C (p.Met1688Leu)
n.3736A>C
c.61A>C (p.Met21Leu)
c.*825A>C (n.*825A>C)
c.369A>C
15g.48463902T=CA2175516116FBN1c.5062A= (p.Met1688=)
n.3736A=
c.61A= (p.Met21=)
c.*825A= (n.*825A=)
c.369A=
15g.48463903G>ACA490025824FBN1c.5061C>T (p.Cys1687=)
n.3735C>T
c.60C>T (p.Cys20=)
c.*824C>T (n.*824C>T)
c.368C>T
15g.48463903G>CCA392349510FBN1c.5061C>G (p.Cys1687Trp)
n.3735C>G
c.60C>G (p.Cys20Trp)
c.*824C>G (n.*824C>G)
c.368C>G
15g.48463903G=CA2175516122FBN1c.5061C= (p.Cys1687=)
n.3735C=
c.60C= (p.Cys20=)
c.*824C= (n.*824C=)
c.368C=
15g.48463903G>TCA392349511FBN1c.5061C>A (p.Cys1687Ter)
n.3735C>A
c.60C>A (p.Cys20Ter)
c.*824C>A (n.*824C>A)
c.368C>A
 ClinVar dbSNP
15g.48463904C>ACA392349513FBN1c.5060G>T (p.Cys1687Phe)
n.3734G>T
c.59G>T (p.Cys20Phe)
c.*823G>T (n.*823G>T)
c.367G>T
 ClinVar
15g.48463904C>GCA392349515FBN1c.5060G>C (p.Cys1687Ser)
n.3734G>C
c.59G>C (p.Cys20Ser)
c.*823G>C (n.*823G>C)
c.367G>C
15g.48463904C>TCA392349518FBN1c.5060G>A (p.Cys1687Tyr)
n.3734G>A
c.59G>A (p.Cys20Tyr)
c.*823G>A (n.*823G>A)
c.367G>A
 ClinVar
15g.48463905A>CCA392349523FBN1c.5059T>G (p.Cys1687Gly)
n.3733T>G
c.58T>G (p.Cys20Gly)
c.*822T>G (n.*822T>G)
c.366T>G
15g.48463905A>GCA392349529FBN1c.5059T>C (p.Cys1687Arg)
n.3733T>C
c.58T>C (p.Cys20Arg)
c.*822T>C (n.*822T>C)
c.366T>C
 ClinVar dbSNP
15g.48463905A>TCA392349526FBN1c.5059T>A (p.Cys1687Ser)
n.3733T>A
c.58T>A (p.Cys20Ser)
c.*822T>A (n.*822T>A)
c.366T>A
15g.48463906A=CA2175516125FBN1c.5058T= (p.Asn1686=)
n.3732T=
c.57T= (p.Asn19=)
c.*821T= (n.*821T=)
c.365T=
15g.48463906A>CCA392349541FBN1c.5058T>G (p.Asn1686Lys)
n.3732T>G
c.57T>G (p.Asn19Lys)
c.*821T>G (n.*821T>G)
c.365T>G
15g.48463906A>GCA490025836FBN1c.5058T>C (p.Asn1686=)
n.3732T>C
c.57T>C (p.Asn19=)
c.*821T>C (n.*821T>C)
c.365T>C
 dbSNP gnomAD v2 gnomAD v4
15g.48463906A>TCA392349545FBN1c.5058T>A (p.Asn1686Lys)
n.3732T>A
c.57T>A (p.Asn19Lys)
c.*821T>A (n.*821T>A)
c.365T>A
15g.48463906_48463907delinsATCA2175516128FBN1c.5057_5058delinsAT (p.Asn1686=)
n.3731_3732delinsAT
c.56_57delinsAT (p.Asn19=)
c.*820_*821delinsAT (n.*820_*821delinsAT)
c.364_365delinsAT
15g.48463909_48463911delCA2580613816FBN1c.5056_5058del (p.Asn1686del)
n.3730_3732del
c.55_57del (p.Asn19del)
c.*819_*821del (n.*819_*821del)
c.363_365del
 ClinVar dbSNP
15g.48463907T>ACA392349550FBN1c.5057A>T (p.Asn1686Ile)
n.3731A>T
c.56A>T (p.Asn19Ile)
c.*820A>T (n.*820A>T)
c.364A>T
15g.48463907T>CCA392349551FBN1c.5057A>G (p.Asn1686Ser)
n.3731A>G
c.56A>G (p.Asn19Ser)
c.*820A>G (n.*820A>G)
c.364A>G
 gnomAD v4
15g.48463907T>GCA392349552FBN1c.5057A>C (p.Asn1686Thr)
n.3731A>C
c.56A>C (p.Asn19Thr)
c.*820A>C (n.*820A>C)
c.364A>C
15g.48463908delCA915945992FBN1c.5057del (p.Asn1686IlefsTer5)
n.3731del
c.56del (p.Asn19IlefsTer5)
c.*820del (n.*820del)
c.364del
 ClinVar dbSNP
15g.48463908T>ACA392349554FBN1c.5056A>T (p.Asn1686Tyr)
n.3730A>T
c.55A>T (p.Asn19Tyr)
c.*819A>T (n.*819A>T)
c.363A>T
15g.48463908T>CCA392349557FBN1c.5056A>G (p.Asn1686Asp)
n.3730A>G
c.55A>G (p.Asn19Asp)
c.*819A>G (n.*819A>G)
c.363A>G
15g.48463908T>GCA392349558FBN1c.5056A>C (p.Asn1686His)
n.3730A>C
c.55A>C (p.Asn19His)
c.*819A>C (n.*819A>C)
c.363A>C
15g.48463909A>CCA392349563FBN1c.5055T>G (p.Asn1685Lys)
n.3729T>G
c.54T>G (p.Asn18Lys)
c.*818T>G (n.*818T>G)
c.362T>G
15g.48463909A>GCA490025844FBN1c.5055T>C (p.Asn1685=)
n.3729T>C
c.54T>C (p.Asn18=)
c.*818T>C (n.*818T>C)
c.362T>C
15g.48463909A>TCA392349565FBN1c.5055T>A (p.Asn1685Lys)
n.3729T>A
c.54T>A (p.Asn18Lys)
c.*818T>A (n.*818T>A)
c.362T>A
15g.48463910T>ACA392349568FBN1c.5054A>T (p.Asn1685Ile)
n.3728A>T
c.53A>T (p.Asn18Ile)
c.*817A>T (n.*817A>T)
c.361A>T
15g.48463910T>CCA392349571FBN1c.5054A>G (p.Asn1685Ser)
n.3728A>G
c.53A>G (p.Asn18Ser)
c.*817A>G (n.*817A>G)
c.361A>G
15g.48463910T>GCA392349587FBN1c.5054A>C (p.Asn1685Thr)
n.3728A>C
c.53A>C (p.Asn18Thr)
c.*817A>C (n.*817A>C)
c.361A>C
15g.48463912delCA2740096580FBN1c.5054del (p.Asn1685IlefsTer6)
n.3728del
c.53del (p.Asn18IlefsTer6)
c.*817del (n.*817del)
c.361del
 ClinVar
15g.48463911T>ACA392349591FBN1c.5053A>T (p.Asn1685Tyr)
n.3727A>T
c.52A>T (p.Asn18Tyr)
c.*816A>T (n.*816A>T)
c.360A>T
15g.48463911T>CCA392349603FBN1c.5053A>G (p.Asn1685Asp)
n.3727A>G
c.52A>G (p.Asn18Asp)
c.*816A>G (n.*816A>G)
c.360A>G
15g.48463911T>GCA392349606FBN1c.5053A>C (p.Asn1685His)
n.3727A>C
c.52A>C (p.Asn18His)
c.*816A>C (n.*816A>C)
c.360A>C
15g.48463912T>ACA490025851FBN1c.5052A>T (p.Gly1684=)
n.3726A>T
c.51A>T (p.Gly17=)
c.*815A>T (n.*815A>T)
c.359A>T
15g.48463912T>CCA490025852FBN1c.5052A>G (p.Gly1684=)
n.3726A>G
c.51A>G (p.Gly17=)
c.*815A>G (n.*815A>G)
c.359A>G
15g.48463912T>GCA490025853FBN1c.5052A>C (p.Gly1684=)
n.3726A>C
c.51A>C (p.Gly17=)
c.*815A>C (n.*815A>C)
c.359A>C
15g.48463913C>ACA392349611FBN1c.5051G>T (p.Gly1684Val)
n.3725G>T
c.50G>T (p.Gly17Val)
c.*814G>T (n.*814G>T)
c.358G>T
15g.48463913C=CA2175516133FBN1c.5051G= (p.Gly1684=)
n.3725G=
c.50G= (p.Gly17=)
c.*814G= (n.*814G=)
c.358G=
15g.48463913C>GCA392349608FBN1c.5051G>C (p.Gly1684Ala)
n.3725G>C
c.50G>C (p.Gly17Ala)
c.*814G>C (n.*814G>C)
c.358G>C
15g.48463913C>TCA392349607FBN1c.5051G>A (p.Gly1684Glu)
n.3725G>A
c.50G>A (p.Gly17Glu)
c.*814G>A (n.*814G>A)
c.358G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.48463914C>ACA392349612FBN1c.5050G>T (p.Gly1684Ter)
n.3724G>T
c.49G>T (p.Gly17Ter)
c.*813G>T (n.*813G>T)
c.357G>T
15g.48463914C=CA2175516135FBN1c.5050G= (p.Gly1684=)
n.3724G=
c.49G= (p.Gly17=)
c.*813G= (n.*813G=)
c.357G=
15g.48463914C>GCA392349613FBN1c.5050G>C (p.Gly1684Arg)
n.3724G>C
c.49G>C (p.Gly17Arg)
c.*813G>C (n.*813G>C)
c.357G>C
15g.48463914C>TCA392349617FBN1c.5050G>A (p.Gly1684Arg)
n.3724G>A
c.49G>A (p.Gly17Arg)
c.*813G>A (n.*813G>A)
c.357G>A
 ClinVar dbSNP COSMIC
15g.48463915C>ACA490025855FBN1c.5049G>T (p.Gly1683=)
n.3723G>T
c.48G>T (p.Gly16=)
c.*812G>T (n.*812G>T)
c.356G>T
15g.48463915C=CA2175516139FBN1c.5049G= (p.Gly1683=)
n.3723G=
c.48G= (p.Gly16=)
c.*812G= (n.*812G=)
c.356G=
15g.48463915C>GCA490025856FBN1c.5049G>C (p.Gly1683=)
n.3723G>C
c.48G>C (p.Gly16=)
c.*812G>C (n.*812G>C)
c.356G>C
 dbSNP gnomAD v2 gnomAD v4
15g.48463915C>TCA490025858FBN1c.5049G>A (p.Gly1683=)
n.3723G>A
c.48G>A (p.Gly16=)
c.*812G>A (n.*812G>A)
c.356G>A
15g.48463916C>ACA392349626FBN1c.5048G>T (p.Gly1683Val)
n.3722G>T
c.47G>T (p.Gly16Val)
c.*811G>T (n.*811G>T)
c.355G>T
15g.48463916C=CA2175516141FBN1c.5048G= (p.Gly1683=)
n.3722G=
c.47G= (p.Gly16=)
c.*811G= (n.*811G=)
c.355G=
15g.48463916C>GCA392349629FBN1c.5048G>C (p.Gly1683Ala)
n.3722G>C
c.47G>C (p.Gly16Ala)
c.*811G>C (n.*811G>C)
c.355G>C
15g.48463916C>TCA392349637FBN1c.5048G>A (p.Gly1683Glu)
n.3722G>A
c.47G>A (p.Gly16Glu)
c.*811G>A (n.*811G>A)
c.355G>A
 ClinVar dbSNP gnomAD v4
15g.48463917C>ACA392349642FBN1c.5047G>T (p.Gly1683Trp)
n.3721G>T
c.46G>T (p.Gly16Trp)
c.*810G>T (n.*810G>T)
c.354G>T
15g.48463917C>GCA392349644FBN1c.5047G>C (p.Gly1683Arg)
n.3721G>C
c.46G>C (p.Gly16Arg)
c.*810G>C (n.*810G>C)
c.354G>C
15g.48463917C>TCA392349647FBN1c.5047G>A (p.Gly1683Arg)
n.3721G>A
c.46G>A (p.Gly16Arg)
c.*810G>A (n.*810G>A)
c.354G>A
 dbSNP gnomAD v3 gnomAD v4
15g.48463918A>CCA392349650FBN1c.5046T>G (p.Asn1682Lys)
n.3720T>G
c.45T>G (p.Asn15Lys)
c.*809T>G (n.*809T>G)
c.353T>G
15g.48463918A>GCA490025865FBN1c.5046T>C (p.Asn1682=)
n.3720T>C
c.45T>C (p.Asn15=)
c.*809T>C (n.*809T>C)
c.353T>C
15g.48463918A>TCA392349651FBN1c.5046T>A (p.Asn1682Lys)
n.3720T>A
c.45T>A (p.Asn15Lys)
c.*809T>A (n.*809T>A)
c.353T>A
 gnomAD v4
15g.48463919T>ACA392349652FBN1c.5045A>T (p.Asn1682Ile)
n.3719A>T
c.44A>T (p.Asn15Ile)
c.*808A>T (n.*808A>T)
c.352A>T
15g.48463919T>CCA392349654FBN1c.5045A>G (p.Asn1682Ser)
n.3719A>G
c.44A>G (p.Asn15Ser)
c.*808A>G (n.*808A>G)
c.352A>G
 gnomAD v4
15g.48463919T>GCA392349657FBN1c.5045A>C (p.Asn1682Thr)
n.3719A>C
c.44A>C (p.Asn15Thr)
c.*808A>C (n.*808A>C)
c.352A>C
15g.48463920T>ACA392349674FBN1c.5044A>T (p.Asn1682Tyr)
n.3718A>T
c.43A>T (p.Asn15Tyr)
c.*807A>T (n.*807A>T)
c.351A>T
15g.48463920T>CCA392349672FBN1c.5044A>G (p.Asn1682Asp)
n.3718A>G
c.43A>G (p.Asn15Asp)
c.*807A>G (n.*807A>G)
c.351A>G
15g.48463920T>GCA392349666FBN1c.5044A>C (p.Asn1682His)
n.3718A>C
c.43A>C (p.Asn15His)
c.*807A>C (n.*807A>C)
c.351A>C
 gnomAD v4
15g.48463921C>ACA490025874FBN1c.5043G>T (p.Val1681=)
n.3717G>T
c.42G>T (p.Val14=)
c.*806G>T (n.*806G>T)
c.350G>T
15g.48463921C=CA2175516143FBN1c.5043G= (p.Val1681=)
n.3717G=
c.42G= (p.Val14=)
c.*806G= (n.*806G=)
c.350G=
15g.48463921C>GCA490025877FBN1c.5043G>C (p.Val1681=)
n.3717G>C
c.42G>C (p.Val14=)
c.*806G>C (n.*806G>C)
c.350G>C
15g.48463921C>TCA054144FBN1c.5043G>A (p.Val1681=)
n.3717G>A
c.42G>A (p.Val14=)
c.*806G>A (n.*806G>A)
c.350G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48463922A>CCA392349685FBN1c.5042T>G (p.Val1681Gly)
n.3716T>G
c.41T>G (p.Val14Gly)
c.*805T>G (n.*805T>G)
c.349T>G
15g.48463922A>GCA392349688FBN1c.5042T>C (p.Val1681Ala)
n.3716T>C
c.41T>C (p.Val14Ala)
c.*805T>C (n.*805T>C)
c.349T>C
 ClinVar gnomAD v4
15g.48463922A>TCA392349691FBN1c.5042T>A (p.Val1681Glu)
n.3716T>A
c.41T>A (p.Val14Glu)
c.*805T>A (n.*805T>A)
c.349T>A
15g.48463923C>ACA392349694FBN1c.5041G>T (p.Val1681Leu)
n.3715G>T
c.40G>T (p.Val14Leu)
c.*804G>T (n.*804G>T)
c.348G>T
15g.48463923C>GCA392349696FBN1c.5041G>C (p.Val1681Leu)
n.3715G>C
c.40G>C (p.Val14Leu)
c.*804G>C (n.*804G>C)
c.348G>C
15g.48463923C>TCA392349700FBN1c.5041G>A (p.Val1681Met)
n.3715G>A
c.40G>A (p.Val14Met)
c.*804G>A (n.*804G>A)
c.348G>A
 ClinVar
15g.48463924T>ACA392349702FBN1c.5040A>T (p.Gln1680His)
n.3714A>T
c.39A>T (p.Gln13His)
c.*803A>T (n.*803A>T)
c.347A>T
15g.48463924T>CCA490025887FBN1c.5040A>G (p.Gln1680=)
n.3714A>G
c.39A>G (p.Gln13=)
c.*803A>G (n.*803A>G)
c.347A>G
15g.48463924T>GCA392349701FBN1c.5040A>C (p.Gln1680His)
n.3714A>C
c.39A>C (p.Gln13His)
c.*803A>C (n.*803A>C)
c.347A>C
15g.48463925T>ACA392349703FBN1c.5039A>T (p.Gln1680Leu)
n.3713A>T
c.38A>T (p.Gln13Leu)
c.*802A>T (n.*802A>T)
c.346A>T
15g.48463925T>CCA392349705FBN1c.5039A>G (p.Gln1680Arg)
n.3713A>G
c.38A>G (p.Gln13Arg)
c.*802A>G (n.*802A>G)
c.346A>G
15g.48463925T>GCA392349709FBN1c.5039A>C (p.Gln1680Pro)
n.3713A>C
c.38A>C (p.Gln13Pro)
c.*802A>C (n.*802A>C)
c.346A>C
15g.48463926G>ACA10583244FBN1c.5038C>T (p.Gln1680Ter)
n.3712C>T
c.37C>T (p.Gln13Ter)
c.*801C>T (n.*801C>T)
c.345C>T
 ClinVar dbSNP
15g.48463926G>CCA392349715FBN1c.5038C>G (p.Gln1680Glu)
n.3712C>G
c.37C>G (p.Gln13Glu)
c.*801C>G (n.*801C>G)
c.345C>G
15g.48463926G=CA2175516146FBN1c.5038C= (p.Gln1680=)
n.3712C=
c.37C= (p.Gln13=)
c.*801C= (n.*801C=)
c.345C=
15g.48463926G>TCA392349717FBN1c.5038C>A (p.Gln1680Lys)
n.3712C>A
c.37C>A (p.Gln13Lys)
c.*801C>A (n.*801C>A)
c.345C>A
15g.48463927C>ACA392349721FBN1c.5037G>T (p.Met1679Ile)
n.3711G>T
c.36G>T (p.Met12Ile)
c.*800G>T (n.*800G>T)
c.344G>T
15g.48463927C>GCA392349723FBN1c.5037G>C (p.Met1679Ile)
n.3711G>C
c.36G>C (p.Met12Ile)
c.*800G>C (n.*800G>C)
c.344G>C
15g.48463927C>TCA392349722FBN1c.5037G>A (p.Met1679Ile)
n.3711G>A
c.36G>A (p.Met12Ile)
c.*800G>A (n.*800G>A)
c.344G>A
15g.48463928A>CCA392349724FBN1c.5036T>G (p.Met1679Arg)
n.3710T>G
c.35T>G (p.Met12Arg)
c.*799T>G (n.*799T>G)
c.343T>G
15g.48463928A>GCA392349726FBN1c.5036T>C (p.Met1679Thr)
n.3710T>C
c.35T>C (p.Met12Thr)
c.*799T>C (n.*799T>C)
c.343T>C
15g.48463928A>TCA392349728FBN1c.5036T>A (p.Met1679Lys)
n.3710T>A
c.35T>A (p.Met12Lys)
c.*799T>A (n.*799T>A)
c.343T>A
15g.48463929T>ACA392349732FBN1c.5035A>T (p.Met1679Leu)
n.3709A>T
c.34A>T (p.Met12Leu)
c.*798A>T (n.*798A>T)
c.342A>T
15g.48463929T>CCA392349734FBN1c.5035A>G (p.Met1679Val)
n.3709A>G
c.34A>G (p.Met12Val)
c.*798A>G (n.*798A>G)
c.342A>G
 ClinVar dbSNP
15g.48463929T>GCA054138FBN1c.5035A>C (p.Met1679Leu)
n.3709A>C
c.34A>C (p.Met12Leu)
c.*798A>C (n.*798A>C)
c.342A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.48463929T=CA2175516150FBN1c.5035A= (p.Met1679=)
n.3709A=
c.34A= (p.Met12=)
c.*798A= (n.*798A=)
c.342A=
15g.48463930G>ACA490025905FBN1c.5034C>T (p.Tyr1678=)
n.3708C>T
c.33C>T (p.Tyr11=)
c.*797C>T (n.*797C>T)
c.341C>T
 gnomAD v4
15g.48463930G>CCA392349743FBN1c.5034C>G (p.Tyr1678Ter)
n.3708C>G
c.33C>G (p.Tyr11Ter)
c.*797C>G (n.*797C>G)
c.341C>G
15g.48463930G>TCA392349751FBN1c.5034C>A (p.Tyr1678Ter)
n.3708C>A
c.33C>A (p.Tyr11Ter)
c.*797C>A (n.*797C>A)
c.341C>A
15g.48463931T>ACA392349755FBN1c.5033A>T (p.Tyr1678Phe)
n.3707A>T
c.32A>T (p.Tyr11Phe)
c.*796A>T (n.*796A>T)
c.340A>T
15g.48463931T>CCA392349756FBN1c.5033A>G (p.Tyr1678Cys)
n.3707A>G
c.32A>G (p.Tyr11Cys)
c.*796A>G (n.*796A>G)
c.340A>G
15g.48463931T>GCA392349757FBN1c.5033A>C (p.Tyr1678Ser)
n.3707A>C
c.32A>C (p.Tyr11Ser)
c.*796A>C (n.*796A>C)
c.340A>C
15g.48463932A>CCA392349762FBN1c.5032T>G (p.Tyr1678Asp)
n.3706T>G
c.31T>G (p.Tyr11Asp)
c.*795T>G (n.*795T>G)
c.339T>G
15g.48463932A>GCA392349758FBN1c.5032T>C (p.Tyr1678His)
n.3706T>C
c.31T>C (p.Tyr11His)
c.*795T>C (n.*795T>C)
c.339T>C
15g.48463932A>TCA392349761FBN1c.5032T>A (p.Tyr1678Asn)
n.3706T>A
c.31T>A (p.Tyr11Asn)
c.*795T>A (n.*795T>A)
c.339T>A
15g.48463933G>ACA490025917FBN1c.5031C>T (p.Asp1677=)
n.3705C>T
c.30C>T (p.Asp10=)
c.*794C>T (n.*794C>T)
c.338C>T
 ClinVar dbSNP
15g.48463933G>CCA392349763FBN1c.5031C>G (p.Asp1677Glu)
n.3705C>G
c.30C>G (p.Asp10Glu)
c.*794C>G (n.*794C>G)
c.338C>G
15g.48463933G=CA2175516152FBN1c.5031C= (p.Asp1677=)
n.3705C=
c.30C= (p.Asp10=)
c.*794C= (n.*794C=)
c.338C=
15g.48463933G>TCA392349764FBN1c.5031C>A (p.Asp1677Glu)
n.3705C>A
c.30C>A (p.Asp10Glu)
c.*794C>A (n.*794C>A)
c.338C>A
15g.48463935_48463953delCA2580089542FBN1c.5013_5031del (p.Cys1672ThrfsTer4)
n.3687_3705del
c.12_30del (p.Cys5ThrfsTer4)
c.*776_*794del (n.*776_*794del)
c.320_338del
 ClinVar
15g.48463934T>ACA392349775FBN1c.5030A>T (p.Asp1677Val)
n.3704A>T
c.29A>T (p.Asp10Val)
c.*793A>T (n.*793A>T)
c.337A>T
15g.48463934T>CCA392349778FBN1c.5030A>G (p.Asp1677Gly)
n.3704A>G
c.29A>G (p.Asp10Gly)
c.*793A>G (n.*793A>G)
c.337A>G
 ClinVar
15g.48463934T>GCA392349787FBN1c.5030A>C (p.Asp1677Ala)
n.3704A>C
c.29A>C (p.Asp10Ala)
c.*793A>C (n.*793A>C)
c.337A>C
15g.48463935C>ACA392349792FBN1c.5029G>T (p.Asp1677Tyr)
n.3703G>T
c.28G>T (p.Asp10Tyr)
c.*792G>T (n.*792G>T)
c.336G>T
15g.48463935C>GCA392349800FBN1c.5029G>C (p.Asp1677His)
n.3703G>C
c.28G>C (p.Asp10His)
c.*792G>C (n.*792G>C)
c.336G>C
15g.48463935C>TCA392349803FBN1c.5029G>A (p.Asp1677Asn)
n.3703G>A
c.28G>A (p.Asp10Asn)
c.*792G>A (n.*792G>A)
c.336G>A
15g.48463936T>ACA490025925FBN1c.5028A>T (p.Pro1676=)
n.3702A>T
c.27A>T (p.Pro9=)
c.*791A>T (n.*791A>T)
c.335A>T
15g.48463936T>CCA490025927FBN1c.5028A>G (p.Pro1676=)
n.3702A>G
c.27A>G (p.Pro9=)
c.*791A>G (n.*791A>G)
c.335A>G
15g.48463936T>GCA490025928FBN1c.5028A>C (p.Pro1676=)
n.3702A>C
c.27A>C (p.Pro9=)
c.*791A>C (n.*791A>C)
c.335A>C
15g.48463937G>ACA392349817FBN1c.5027C>T (p.Pro1676Leu)
n.3701C>T
c.26C>T (p.Pro9Leu)
c.*790C>T (n.*790C>T)
c.334C>T
 dbSNP gnomAD v2
15g.48463937G>CCA392349818FBN1c.5027C>G (p.Pro1676Arg)
n.3701C>G
c.26C>G (p.Pro9Arg)
c.*790C>G (n.*790C>G)
c.334C>G
15g.48463937G=CA2175516155FBN1c.5027C= (p.Pro1676=)
n.3701C=
c.26C= (p.Pro9=)
c.*790C= (n.*790C=)
c.334C=
15g.48463937G>TCA392349820FBN1c.5027C>A (p.Pro1676Gln)
n.3701C>A
c.26C>A (p.Pro9Gln)
c.*790C>A (n.*790C>A)
c.334C>A
15g.48463938_48463945dupCA2695220533FBN1c.5020_5027dup (p.Asp1677ValfsTer8)
n.3694_3701dup
c.19_26dup (p.Asp10ValfsTer8)
c.*783_*790dup (n.*783_*790dup)
c.327_334dup
15g.48463938G>ACA392349827FBN1c.5026C>T (p.Pro1676Ser)
n.3700C>T
c.25C>T (p.Pro9Ser)
c.*789C>T (n.*789C>T)
c.333C>T
15g.48463938G>CCA392349829FBN1c.5026C>G (p.Pro1676Ala)
n.3700C>G
c.25C>G (p.Pro9Ala)
c.*789C>G (n.*789C>G)
c.333C>G
15g.48463938G>TCA392349832FBN1c.5026C>A (p.Pro1676Thr)
n.3700C>A
c.25C>A (p.Pro9Thr)
c.*789C>A (n.*789C>A)
c.333C>A
 COSMIC
15g.48463939A>CCA490025939FBN1c.5025T>G (p.Pro1675=)
n.3699T>G
c.24T>G (p.Pro8=)
c.*788T>G (n.*788T>G)
c.332T>G
15g.48463939A>GCA490025940FBN1c.5025T>C (p.Pro1675=)
n.3699T>C
c.24T>C (p.Pro8=)
c.*788T>C (n.*788T>C)
c.332T>C
15g.48463939A>TCA490025942FBN1c.5025T>A (p.Pro1675=)
n.3699T>A
c.24T>A (p.Pro8=)
c.*788T>A (n.*788T>A)
c.332T>A
15g.48463940G>ACA392349857FBN1c.5024C>T (p.Pro1675Leu)
n.3698C>T
c.23C>T (p.Pro8Leu)
c.*787C>T (n.*787C>T)
c.331C>T
 ClinVar dbSNP
15g.48463940G>CCA392349839FBN1c.5024C>G (p.Pro1675Arg)
n.3698C>G
c.23C>G (p.Pro8Arg)
c.*787C>G (n.*787C>G)
c.331C>G
 dbSNP gnomAD v2
15g.48463940G=CA2175516159FBN1c.5024C= (p.Pro1675=)
n.3698C=
c.23C= (p.Pro8=)
c.*787C= (n.*787C=)
c.331C=
15g.48463940G>TCA392349853FBN1c.5024C>A (p.Pro1675His)
n.3698C>A
c.23C>A (p.Pro8His)
c.*787C>A (n.*787C>A)
c.331C>A
15g.48463941G>ACA392349862FBN1c.5023C>T (p.Pro1675Ser)
n.3697C>T
c.22C>T (p.Pro8Ser)
c.*786C>T (n.*786C>T)
c.330C>T
15g.48463941G>CCA392349865FBN1c.5023C>G (p.Pro1675Ala)
n.3697C>G
c.22C>G (p.Pro8Ala)
c.*786C>G (n.*786C>G)
c.330C>G
15g.48463941G>TCA392349870FBN1c.5023C>A (p.Pro1675Thr)
n.3697C>A
c.22C>A (p.Pro8Thr)
c.*786C>A (n.*786C>A)
c.330C>A
15g.48463942A>CCA392349875FBN1c.5022T>G (p.Cys1674Trp)
n.3696T>G
c.21T>G (p.Cys7Trp)
c.*785T>G (n.*785T>G)
c.329T>G
15g.48463942A>GCA490025952FBN1c.5022T>C (p.Cys1674=)
n.3696T>C
c.21T>C (p.Cys7=)
c.*785T>C (n.*785T>C)
c.329T>C
15g.48463942A>TCA392349877FBN1c.5022T>A (p.Cys1674Ter)
n.3696T>A
c.21T>A (p.Cys7Ter)
c.*785T>A (n.*785T>A)
c.329T>A
15g.48463943_48463944delCA2740096581FBN1c.5021_5022del (p.Cys1674SerfsTer12)
n.3695_3696del
c.20_21del (p.Cys7SerfsTer12)
c.*784_*785del (n.*784_*785del)
c.328_329del
 ClinVar
15g.48463943C>ACA015558FBN1c.5021G>T (p.Cys1674Phe)
n.3695G>T
c.20G>T (p.Cys7Phe)
c.*784G>T (n.*784G>T)
c.328G>T
 ClinVar dbSNP
15g.48463943C=CA2175516162FBN1c.5021G= (p.Cys1674=)
n.3695G=
c.20G= (p.Cys7=)
c.*784G= (n.*784G=)
c.328G=
15g.48463943C>GCA392349889FBN1c.5021G>C (p.Cys1674Ser)
n.3695G>C
c.20G>C (p.Cys7Ser)
c.*784G>C (n.*784G>C)
c.328G>C
 ClinVar
15g.48463943C>TCA392349892FBN1c.5021G>A (p.Cys1674Tyr)
n.3695G>A
c.20G>A (p.Cys7Tyr)
c.*784G>A (n.*784G>A)
c.328G>A
 ClinVar dbSNP
15g.48463944A=CA2175516165FBN1c.5020T= (p.Cys1674=)
n.3694T=
c.19T= (p.Cys7=)
c.*783T= (n.*783T=)
c.327T=
15g.48463944A>CCA392349895FBN1c.5020T>G (p.Cys1674Gly)
n.3694T>G
c.19T>G (p.Cys7Gly)
c.*783T>G (n.*783T>G)
c.327T>G
15g.48463944A>GCA392349898FBN1c.5020T>C (p.Cys1674Arg)
n.3694T>C
c.19T>C (p.Cys7Arg)
c.*783T>C (n.*783T>C)
c.327T>C
 ClinVar dbSNP
15g.48463944A>TCA392349901FBN1c.5020T>A (p.Cys1674Ser)
n.3694T>A
c.19T>A (p.Cys7Ser)
c.*783T>A (n.*783T>A)
c.327T>A
15g.48463946_48463957delCA2580089545FBN1c.5009_5020del (p.Tyr1670_Ile1673del)
n.3683_3694del
c.8_19del (p.Tyr3_Ile6del)
c.*772_*783del (n.*772_*783del)
c.316_327del
 ClinVar
15g.48463945G>ACA490025961FBN1c.5019C>T (p.Ile1673=)
n.3693C>T
c.18C>T (p.Ile6=)
c.*782C>T (n.*782C>T)
c.326C>T
15g.48463945G>CCA392349906FBN1c.5019C>G (p.Ile1673Met)
n.3693C>G
c.18C>G (p.Ile6Met)
c.*782C>G (n.*782C>G)
c.326C>G
15g.48463945G>TCA490025964FBN1c.5019C>A (p.Ile1673=)
n.3693C>A
c.18C>A (p.Ile6=)
c.*782C>A (n.*782C>A)
c.326C>A
15g.48463946A=CA2175516167FBN1c.5018T= (p.Ile1673=)
n.3692T=
c.17T= (p.Ile6=)
c.*781T= (n.*781T=)
c.325T=
15g.48463946A>CCA392349936FBN1c.5018T>G (p.Ile1673Ser)
n.3692T>G
c.17T>G (p.Ile6Ser)
c.*781T>G (n.*781T>G)
c.325T>G
15g.48463946A>GCA392349925FBN1c.5018T>C (p.Ile1673Thr)
n.3692T>C
c.17T>C (p.Ile6Thr)
c.*781T>C (n.*781T>C)
c.325T>C
 ClinVar dbSNP
15g.48463946A>TCA392349922FBN1c.5018T>A (p.Ile1673Asn)
n.3692T>A
c.17T>A (p.Ile6Asn)
c.*781T>A (n.*781T>A)
c.325T>A
 dbSNP gnomAD v4
15g.48463947T>ACA392349944FBN1c.5017A>T (p.Ile1673Phe)
n.3691A>T
c.16A>T (p.Ile6Phe)
c.*780A>T (n.*780A>T)
c.324A>T
 gnomAD v4
15g.48463947T>CCA392349939FBN1c.5017A>G (p.Ile1673Val)
n.3691A>G
c.16A>G (p.Ile6Val)
c.*780A>G (n.*780A>G)
c.324A>G
 gnomAD v4
15g.48463947T>GCA392349941FBN1c.5017A>C (p.Ile1673Leu)
n.3691A>C
c.16A>C (p.Ile6Leu)
c.*780A>C (n.*780A>C)
c.324A>C
15g.48463947T=CA2175516169FBN1c.5017A= (p.Ile1673=)
n.3691A=
c.16A= (p.Ile6=)
c.*780A= (n.*780A=)
c.324A=
15g.48463948A=CA2175516171FBN1c.5016T= (p.Cys1672=)
n.3690T=
c.15T= (p.Cys5=)
c.*779T= (n.*779T=)
c.323T=
15g.48463948A>CCA392349948FBN1c.5016T>G (p.Cys1672Trp)
n.3690T>G
c.15T>G (p.Cys5Trp)
c.*779T>G (n.*779T>G)
c.323T>G
 ClinVar dbSNP
15g.48463948A>GCA490025975FBN1c.5016T>C (p.Cys1672=)
n.3690T>C
c.15T>C (p.Cys5=)
c.*779T>C (n.*779T>C)
c.323T>C
 COSMIC
15g.48463948A>TCA392349949FBN1c.5016T>A (p.Cys1672Ter)
n.3690T>A
c.15T>A (p.Cys5Ter)
c.*779T>A (n.*779T>A)
c.323T>A
 ClinVar dbSNP
15g.48463948dupCA353693FBN1c.5016dup (p.Ile1673TyrfsTer14)
n.3690dup
c.15dup (p.Ile6TyrfsTer14)
c.*779dup (n.*779dup)
c.323dup
 ClinVar dbSNP
15g.48463949_48463950dupCA2695220534FBN1c.5015_5016dup (p.Ile1673ValfsTer10)
n.3689_3690dup
c.14_15dup (p.Ile6ValfsTer10)
c.*778_*779dup (n.*778_*779dup)
c.322_323dup
15g.48463949delCA2695220535FBN1c.5015del (p.Cys1672LeufsTer10)
n.3689del
c.14del (p.Cys5LeufsTer10)
c.*778del (n.*778del)
c.322del
15g.48463949C>ACA269548255FBN1c.5015G>T (p.Cys1672Phe)
n.3689G>T
c.14G>T (p.Cys5Phe)
c.*778G>T (n.*778G>T)
c.322G>T
 ClinVar dbSNP
15g.48463949C=CA2175516173FBN1c.5015G= (p.Cys1672=)
n.3689G=
c.14G= (p.Cys5=)
c.*778G= (n.*778G=)
c.322G=
15g.48463949C>GCA500016FBN1c.5015G>C (p.Cys1672Ser)
n.3689G>C
c.14G>C (p.Cys5Ser)
c.*778G>C (n.*778G>C)
c.322G>C
 ClinVar dbSNP
15g.48463949C>TCA015547FBN1c.5015G>A (p.Cys1672Tyr)
n.3689G>A
c.14G>A (p.Cys5Tyr)
c.*778G>A (n.*778G>A)
c.322G>A
 ClinVar dbSNP
15g.48463950A=CA2175516175FBN1c.5014T= (p.Cys1672=)
n.3688T=
c.13T= (p.Cys5=)
c.*777T= (n.*777T=)
c.321T=
15g.48463950A>CCA269548272FBN1c.5014T>G (p.Cys1672Gly)
n.3688T>G
c.13T>G (p.Cys5Gly)
c.*777T>G (n.*777T>G)
c.321T>G
 ClinVar dbSNP
15g.48463950A>GCA392349959FBN1c.5014T>C (p.Cys1672Arg)
n.3688T>C
c.13T>C (p.Cys5Arg)
c.*777T>C (n.*777T>C)
c.321T>C
 ClinVar
15g.48463950A>TCA392349962FBN1c.5014T>A (p.Cys1672Ser)
n.3688T>A
c.13T>A (p.Cys5Ser)
c.*777T>A (n.*777T>A)
c.321T>A
15g.48463951G>ACA054130FBN1c.5013C>T (p.Thr1671=)
n.3687C>T
c.12C>T (p.Thr4=)
c.*776C>T (n.*776C>T)
c.320C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.48463951G>CCA490025986FBN1c.5013C>G (p.Thr1671=)
n.3687C>G
c.12C>G (p.Thr4=)
c.*776C>G (n.*776C>G)
c.320C>G
15g.48463951G=CA2175516177FBN1c.5013C= (p.Thr1671=)
n.3687C=
c.12C= (p.Thr4=)
c.*776C= (n.*776C=)
c.320C=
15g.48463951G>TCA490025988FBN1c.5013C>A (p.Thr1671=)
n.3687C>A
c.12C>A (p.Thr4=)
c.*776C>A (n.*776C>A)
c.320C>A
15g.48463952G>ACA392349978FBN1c.5012C>T (p.Thr1671Ile)
n.3686C>T
c.11C>T (p.Thr4Ile)
c.*775C>T (n.*775C>T)
c.319C>T
 gnomAD v4
15g.48463952G>CCA392349975FBN1c.5012C>G (p.Thr1671Ser)
n.3686C>G
c.11C>G (p.Thr4Ser)
c.*775C>G (n.*775C>G)
c.319C>G
15g.48463952G>TCA392349972FBN1c.5012C>A (p.Thr1671Asn)
n.3686C>A
c.11C>A (p.Thr4Asn)
c.*775C>A (n.*775C>A)
c.319C>A
15g.48463953T>ACA392349983FBN1c.5011A>T (p.Thr1671Ser)
n.3685A>T
c.10A>T (p.Thr4Ser)
c.*774A>T (n.*774A>T)
c.318A>T
 gnomAD v4
15g.48463953T>CCA392349987FBN1c.5011A>G (p.Thr1671Ala)
n.3685A>G
c.10A>G (p.Thr4Ala)
c.*774A>G (n.*774A>G)
c.318A>G
15g.48463953T>GCA392349988FBN1c.5011A>C (p.Thr1671Pro)
n.3685A>C
c.10A>C (p.Thr4Pro)
c.*774A>C (n.*774A>C)
c.318A>C
 ClinVar
15g.48463954G>ACA490025997FBN1c.5010C>T (p.Tyr1670=)
n.3684C>T
c.9C>T (p.Tyr3=)
c.*773C>T (n.*773C>T)
c.317C>T
 gnomAD v4
15g.48463954G>CCA392349992FBN1c.5010C>G (p.Tyr1670Ter)
n.3684C>G
c.9C>G (p.Tyr3Ter)
c.*773C>G (n.*773C>G)
c.317C>G
15g.48463954G>TCA392349994FBN1c.5010C>A (p.Tyr1670Ter)
n.3684C>A
c.9C>A (p.Tyr3Ter)
c.*773C>A (n.*773C>A)
c.317C>A
15g.48463955T>ACA392349997FBN1c.5009A>T (p.Tyr1670Phe)
n.3683A>T
c.8A>T (p.Tyr3Phe)
c.*772A>T (n.*772A>T)
c.316A>T
15g.48463955T>CCA392350001FBN1c.5009A>G (p.Tyr1670Cys)
n.3683A>G
c.8A>G (p.Tyr3Cys)
c.*772A>G (n.*772A>G)
c.316A>G
 ClinVar dbSNP
15g.48463955T>GCA392350004FBN1c.5009A>C (p.Tyr1670Ser)
n.3683A>C
c.8A>C (p.Tyr3Ser)
c.*772A>C (n.*772A>C)
c.316A>C
15g.48463955T=CA2175516179FBN1c.5009A= (p.Tyr1670=)
n.3683A=
c.8A= (p.Tyr3=)
c.*772A= (n.*772A=)
c.316A=
15g.48463956A=CA2175516181FBN1c.5008T= (p.Tyr1670=)
n.3682T=
c.7T= (p.Tyr3=)
c.*771T= (n.*771T=)
c.315T=
15g.48463956A>CCA392350010FBN1c.5008T>G (p.Tyr1670Asp)
n.3682T>G
c.7T>G (p.Tyr3Asp)
c.*771T>G (n.*771T>G)
c.315T>G
15g.48463956A>GCA392350015FBN1c.5008T>C (p.Tyr1670His)
n.3682T>C
c.7T>C (p.Tyr3His)
c.*771T>C (n.*771T>C)
c.315T>C
 dbSNP gnomAD v2 gnomAD v4
15g.48463956A>TCA392350017FBN1c.5008T>A (p.Tyr1670Asn)
n.3682T>A
c.7T>A (p.Tyr3Asn)
c.*771T>A (n.*771T>A)
c.315T>A
15g.48463957G>ACA490026010FBN1c.5007C>T (p.Asn1669=)
n.3681C>T
c.6C>T (p.Asn2=)
c.*770C>T (n.*770C>T)
c.314C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48463957G>CCA392350026FBN1c.5007C>G (p.Asn1669Lys)
n.3681C>G
c.6C>G (p.Asn2Lys)
c.*770C>G (n.*770C>G)
c.314C>G
15g.48463957G=CA2175516182FBN1c.5007C= (p.Asn1669=)
n.3681C=
c.6C= (p.Asn2=)
c.*770C= (n.*770C=)
c.314C=
15g.48463957G>TCA392350032FBN1c.5007C>A (p.Asn1669Lys)
n.3681C>A
c.6C>A (p.Asn2Lys)
c.*770C>A (n.*770C>A)
c.314C>A
15g.48463961_48463972delCA2573150766FBN1c.4996_5007del (p.Thr1666_Asn1669del)
n.3670_3681del
c.*759_*770del (n.*759_*770del)
c.303_314del
 ClinVar dbSNP
15g.48463957_48463958insACACTTAGAAGTACAGTTCACCAGCTGAACACAGAGCAATTCA2741424790FBN1c.5006_5007insAATTGCTCTGTGTTCAGCTGGTGAACTGTACTTCTAAGTGT (p.Asn1669LysfsTer13)
n.3680_3681insAATTGCTCTGTGTTCAGCTGGTGAACTGTACTTCTAAGTGT
c.5_6insAATTGCTCTGTGTTCAGCTGGTGAACTGTACTTCTAAGTGT (p.Asn2LysfsTer13)
c.*769_*770insAATTGCTCTGTGTTCAGCTGGTGAACTGTACTTCTAAGTGT (n.*769_*770insAATTGCTCTGTGTTCAGCTGGTGAACTGTACTTCTAAGTGT)
c.313_314insAATTGCTCTGTGTTCAGCTGGTGAACTGTACTTCTAAGTGT
15g.48463958T>ACA392350040FBN1c.5006A>T (p.Asn1669Ile)
n.3680A>T
c.5A>T (p.Asn2Ile)
c.*769A>T (n.*769A>T)
c.313A>T
15g.48463958T>CCA392350043FBN1c.5006A>G (p.Asn1669Ser)
n.3680A>G
c.5A>G (p.Asn2Ser)
c.*769A>G (n.*769A>G)
c.313A>G
15g.48463958T>GCA392350036FBN1c.5006A>C (p.Asn1669Thr)
n.3680A>C
c.5A>C (p.Asn2Thr)
c.*769A>C (n.*769A>C)
c.313A>C
15g.48463959T>ACA392350046FBN1c.5005A>T (p.Asn1669Tyr)
n.3679A>T
c.4A>T (p.Asn2Tyr)
c.*768A>T (n.*768A>T)
c.312A>T
15g.48463959T>CCA392350048FBN1c.5005A>G (p.Asn1669Asp)
n.3679A>G
c.4A>G (p.Asn2Asp)
c.*768A>G (n.*768A>G)
c.312A>G
15g.48463959T>GCA392350047FBN1c.5005A>C (p.Asn1669His)
n.3679A>C
c.4A>C (p.Asn2His)
c.*768A>C (n.*768A>C)
c.312A>C
15g.48463960G>ACA490026017FBN1c.5004C>T (p.Gly1668=)
n.3678C>T
c.3C>T (p.Gly1=)
c.*767C>T (n.*767C>T)
c.311C>T
 gnomAD v4
15g.48463960G>CCA490026019FBN1c.5004C>G (p.Gly1668=)
n.3678C>G
c.3C>G (p.Gly1=)
c.*767C>G (n.*767C>G)
c.311C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.48463960G=CA2175516184FBN1c.5004C= (p.Gly1668=)
n.3678C=
c.3C= (p.Gly1=)
c.*767C= (n.*767C=)
c.311C=
15g.48463960G>TCA490026021FBN1c.5004C>A (p.Gly1668=)
n.3678C>A
c.3C>A (p.Gly1=)
c.*767C>A (n.*767C>A)
c.311C>A
15g.48463961C>ACA392350053FBN1c.5003G>T (p.Gly1668Val)
n.3677G>T
c.2G>T (p.Gly1Val)
c.*766G>T (n.*766G>T)
c.310G>T
15g.48463961C=CA2175516185FBN1c.5003G= (p.Gly1668=)
n.3677G=
c.2G= (p.Gly1=)
c.*766G= (n.*766G=)
c.310G=
15g.48463961C>GCA392350060FBN1c.5003G>C (p.Gly1668Ala)
n.3677G>C
c.2G>C (p.Gly1Ala)
c.*766G>C (n.*766G>C)
c.310G>C
15g.48463961C>TCA269548276FBN1c.5003G>A (p.Gly1668Asp)
n.3677G>A
c.2G>A (p.Gly1Asp)
c.*766G>A (n.*766G>A)
c.310G>A
 dbSNP gnomAD v4
15g.48463962C>ACA392350065FBN1c.5002G>T (p.Gly1668Cys)
n.3676G>T
c.1G>T (p.Gly1Cys)
c.*765G>T (n.*765G>T)
c.309G>T
 COSMIC
15g.48463962C=CA2175516187FBN1c.5002G= (p.Gly1668=)
n.3676G=
c.1G= (p.Gly1=)
c.*765G= (n.*765G=)
c.309G=
15g.48463962C>GCA392350069FBN1c.5002G>C (p.Gly1668Arg)
n.3676G>C
c.1G>C (p.Gly1Arg)
c.*765G>C (n.*765G>C)
c.309G>C
15g.48463962C>TCA392350073FBN1c.5002G>A (p.Gly1668Ser)
n.3676G>A
c.1G>A (p.Gly1Ser)
c.*765G>A (n.*765G>A)
c.309G>A
 dbSNP gnomAD v3 gnomAD v4
15g.48463962_48463963insCTGTACTGTACACTGTCATGCA2499222984FBN1c.5001_5002insCATGACAGTGTACAGTACAG (p.Gly1668HisfsTer21)
n.3675_3676insCATGACAGTGTACAGTACAG
c.*764_*765insCATGACAGTGTACAGTACAG (n.*764_*765insCATGACAGTGTACAGTACAG)
c.308_309insCATGACAGTGTACAGTACAG
 dbSNP
15g.48463963A=CA2175516189FBN1c.5001T= (p.Val1667=)
n.3675T=
c.*764T= (n.*764T=)
c.308T=
15g.48463963A>CCA490026036FBN1c.5001T>G (p.Val1667=)
n.3675T>G
c.*764T>G (n.*764T>G)
c.308T>G
15g.48463963A>GCA490026038FBN1c.5001T>C (p.Val1667=)
n.3675T>C
c.*764T>C (n.*764T>C)
c.308T>C
 ClinVar dbSNP
15g.48463963A>TCA490026039FBN1c.5001T>A (p.Val1667=)
n.3675T>A
c.*764T>A (n.*764T>A)
c.308T>A
15g.48463964A>CCA392350085FBN1c.5000T>G (p.Val1667Gly)
n.3674T>G
c.*763T>G (n.*763T>G)
c.307T>G
15g.48463964A>GCA392350088FBN1c.5000T>C (p.Val1667Ala)
n.3674T>C
c.*763T>C (n.*763T>C)
c.307T>C
 ClinVar gnomAD v4
15g.48463964A>TCA392350092FBN1c.5000T>A (p.Val1667Asp)
n.3674T>A
c.*763T>A (n.*763T>A)
c.307T>A
15g.48463965C>ACA392350099FBN1c.4999G>T (p.Val1667Phe)
n.3673G>T
c.*762G>T (n.*762G>T)
c.306G>T
 gnomAD v4 COSMIC
15g.48463965C=CA2175516190FBN1c.4999G= (p.Val1667=)
n.3673G=
c.*762G= (n.*762G=)
c.306G=
15g.48463965C>GCA269548278FBN1c.4999G>C (p.Val1667Leu)
n.3673G>C
c.*762G>C (n.*762G>C)
c.306G>C
 ClinVar dbSNP gnomAD v4
15g.48463965C>TCA054126FBN1c.4999G>A (p.Val1667Ile)
n.3673G>A
c.*762G>A (n.*762G>A)
c.306G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.48463966G>ACA054123FBN1c.4998C>T (p.Thr1666=)
n.3672C>T
c.*761C>T (n.*761C>T)
c.305C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48463966G>CCA054115FBN1c.4998C>G (p.Thr1666=)
n.3672C>G
c.*761C>G (n.*761C>G)
c.305C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48463966G=CA2175516192FBN1c.4998C= (p.Thr1666=)
n.3672C=
c.*761C= (n.*761C=)
c.305C=
15g.48463966G>TCA490026051FBN1c.4998C>A (p.Thr1666=)
n.3672C>A
c.*761C>A (n.*761C>A)
c.305C>A
15g.48463967G>ACA392350132FBN1c.4997C>T (p.Thr1666Ile)
n.3671C>T
c.*760C>T (n.*760C>T)
c.304C>T
15g.48463967G>CCA392350123FBN1c.4997C>G (p.Thr1666Ser)
n.3671C>G
c.*760C>G (n.*760C>G)
c.304C>G
15g.48463967G>TCA392350126FBN1c.4997C>A (p.Thr1666Asn)
n.3671C>A
c.*760C>A (n.*760C>A)
c.304C>A
15g.48463968T>ACA392350137FBN1c.4996A>T (p.Thr1666Ser)
n.3670A>T
c.*759A>T (n.*759A>T)
c.303A>T
15g.48463968T>CCA392350139FBN1c.4996A>G (p.Thr1666Ala)
n.3670A>G
c.*759A>G (n.*759A>G)
c.303A>G
15g.48463968T>GCA392350143FBN1c.4996A>C (p.Thr1666Pro)
n.3670A>C
c.*759A>C (n.*759A>C)
c.303A>C
15g.48463969G>ACA490026059FBN1c.4995C>T (p.Asn1665=)
n.3669C>T
c.*758C>T (n.*758C>T)
c.302C>T
 dbSNP
15g.48463969G>CCA392350145FBN1c.4995C>G (p.Asn1665Lys)
n.3669C>G
c.*758C>G (n.*758C>G)
c.302C>G
15g.48463969G=CA2175516194FBN1c.4995C= (p.Asn1665=)
n.3669C=
c.*758C= (n.*758C=)
c.302C=
15g.48463969G>TCA392350147FBN1c.4995C>A (p.Asn1665Lys)
n.3669C>A
c.*758C>A (n.*758C>A)
c.302C>A
15g.48463970T>ACA392350152FBN1c.4994A>T (p.Asn1665Ile)
n.3668A>T
c.*757A>T (n.*757A>T)
c.301A>T
15g.48463970T>CCA392350154FBN1c.4994A>G (p.Asn1665Ser)
n.3668A>G
c.*757A>G (n.*757A>G)
c.301A>G
 gnomAD v4
15g.48463970T>GCA392350155FBN1c.4994A>C (p.Asn1665Thr)
n.3668A>C
c.*757A>C (n.*757A>C)
c.301A>C
 ClinVar
15g.48463971T>ACA392350156FBN1c.4993A>T (p.Asn1665Tyr)
n.3667A>T
c.*756A>T (n.*756A>T)
c.300A>T
15g.48463971T>CCA392350157FBN1c.4993A>G (p.Asn1665Asp)
n.3667A>G
c.*756A>G (n.*756A>G)
c.300A>G
15g.48463971T>GCA392350159FBN1c.4993A>C (p.Asn1665His)
n.3667A>C
c.*756A>C (n.*756A>C)
c.300A>C
15g.48463972G>ACA490026068FBN1c.4992C>T (p.Tyr1664=)
n.3666C>T
c.*755C>T (n.*755C>T)
c.299C>T
15g.48463972G>CCA392350171FBN1c.4992C>G (p.Tyr1664Ter)
n.3666C>G
c.*755C>G (n.*755C>G)
c.299C>G
15g.48463972G>TCA392350166FBN1c.4992C>A (p.Tyr1664Ter)
n.3666C>A
c.*755C>A (n.*755C>A)
c.299C>A
15g.48463973T>ACA392350177FBN1c.4991A>T (p.Tyr1664Phe)
n.3665A>T
c.*754A>T (n.*754A>T)
c.298A>T
15g.48463973T>CCA392350179FBN1c.4991A>G (p.Tyr1664Cys)
n.3665A>G
c.*754A>G (n.*754A>G)
c.298A>G
15g.48463973T>GCA392350182FBN1c.4991A>C (p.Tyr1664Ser)
n.3665A>C
c.*754A>C (n.*754A>C)
c.298A>C
15g.48463974A>CCA392350186FBN1c.4990T>G (p.Tyr1664Asp)
n.3664T>G
c.*753T>G (n.*753T>G)
c.297T>G
15g.48463974A>GCA392350190FBN1c.4990T>C (p.Tyr1664His)
n.3664T>C
c.*753T>C (n.*753T>C)
c.297T>C
15g.48463974A>TCA392350194FBN1c.4990T>A (p.Tyr1664Asn)
n.3664T>A
c.*753T>A (n.*753T>A)
c.297T>A
15g.48463975A>CCA392350199FBN1c.4989T>G (p.Cys1663Trp)
n.3663T>G
c.*752T>G (n.*752T>G)
c.296T>G
15g.48463975A>GCA490026078FBN1c.4989T>C (p.Cys1663=)
n.3663T>C
c.*752T>C (n.*752T>C)
c.296T>C
 gnomAD v4 COSMIC
15g.48463975A>TCA392350204FBN1c.4989T>A (p.Cys1663Ter)
n.3663T>A
c.*752T>A (n.*752T>A)
c.296T>A
15g.48463976_48463977insCTGGACCACAGATTCCAGGACCCTGGACCACCA2740096582FBN1c.4989_4990insGGTCCAGGGTCCTGGAATCTGTGGTCCAGGT (p.Tyr1664GlyfsTer33)
n.3663_3664insGGTCCAGGGTCCTGGAATCTGTGGTCCAGGT
c.*752_*753insGGTCCAGGGTCCTGGAATCTGTGGTCCAGGT (n.*752_*753insGGTCCAGGGTCCTGGAATCTGTGGTCCAGGT)
c.296_297insGGTCCAGGGTCCTGGAATCTGTGGTCCAGGT
 ClinVar
15g.48463976C>ACA392350208FBN1c.4988G>T (p.Cys1663Phe)
n.3662G>T
c.*751G>T (n.*751G>T)
c.295G>T
 ClinVar dbSNP
15g.48463976C=CA2175516195FBN1c.4988G= (p.Cys1663=)
n.3662G=
c.*751G= (n.*751G=)
c.295G=
15g.48463976C>GCA392350212FBN1c.4988G>C (p.Cys1663Ser)
n.3662G>C
c.*751G>C (n.*751G>C)
c.295G>C
 ClinVar dbSNP
15g.48463976C>TCA392350215FBN1c.4988G>A (p.Cys1663Tyr)
n.3662G>A
c.*751G>A (n.*751G>A)
c.295G>A
15g.48463977A=CA2175516197FBN1c.4987T= (p.Cys1663=)
n.3661T=
c.*750T= (n.*750T=)
c.294T=
15g.48463977A>CCA392350218FBN1c.4987T>G (p.Cys1663Gly)
n.3661T>G
c.*750T>G (n.*750T>G)
c.294T>G
15g.48463977A>GCA015538FBN1c.4987T>C (p.Cys1663Arg)
n.3661T>C
c.*750T>C (n.*750T>C)
c.294T>C
 ClinVar dbSNP
15g.48463977A>TCA392350224FBN1c.4987T>A (p.Cys1663Ser)
n.3661T>A
c.*750T>A (n.*750T>A)
c.294T>A

Number of alleles fetched