Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128335444C>ACA562715420FBN2c.3847+11G>T (n.3847+11G>T)
c.397+11G>T (n.397+11G>T)
c.3748+11G>T (n.3748+11G>T)
n.3844+11G>T (n.3844+11G>T)
c.3694+11G>T (n.3694+11G>T)
gnomAD
5g.128335444C=CA1581269590FBN2c.3847+11G= (n.3847+11G=)
c.397+11G= (n.397+11G=)
c.3748+11G= (n.3748+11G=)
n.3844+11G= (n.3844+11G=)
c.3694+11G= (n.3694+11G=)
5g.128335449C=CA1581269591FBN2c.3847+6G= (n.3847+6G=)
c.397+6G= (n.397+6G=)
c.3748+6G= (n.3748+6G=)
n.3844+6G= (n.3844+6G=)
c.3694+6G= (n.3694+6G=)
5g.128335449C>TCA1581269592FBN2c.3847+6G>A (n.3847+6G>A)
c.397+6G>A (n.397+6G>A)
c.3748+6G>A (n.3748+6G>A)
n.3844+6G>A (n.3844+6G>A)
c.3694+6G>A (n.3694+6G>A)
5g.128335450T>CCA562715421FBN2c.3847+5A>G (n.3847+5A>G)
c.397+5A>G (n.397+5A>G)
c.3748+5A>G (n.3748+5A>G)
n.3844+5A>G (n.3844+5A>G)
c.3694+5A>G (n.3694+5A>G)
ClinVar gnomAD
5g.128335450T=CA1581269593FBN2c.3847+5A= (n.3847+5A=)
c.397+5A= (n.397+5A=)
c.3748+5A= (n.3748+5A=)
n.3844+5A= (n.3844+5A=)
c.3694+5A= (n.3694+5A=)
5g.128335453A>CCA360757886FBN2c.3847+2T>G (n.3847+2T>G)
c.397+2T>G (n.397+2T>G)
c.3748+2T>G (n.3748+2T>G)
n.3844+2T>G (n.3844+2T>G)
c.3694+2T>G (n.3694+2T>G)
5g.128335453A>GCA360757887FBN2c.3847+2T>C (n.3847+2T>C)
c.397+2T>C (n.397+2T>C)
c.3748+2T>C (n.3748+2T>C)
n.3844+2T>C (n.3844+2T>C)
c.3694+2T>C (n.3694+2T>C)
5g.128335453A>TCA360757888FBN2c.3847+2T>A (n.3847+2T>A)
c.397+2T>A (n.397+2T>A)
c.3748+2T>A (n.3748+2T>A)
n.3844+2T>A (n.3844+2T>A)
c.3694+2T>A (n.3694+2T>A)
5g.128335454C>ACA321134FBN2c.3847+1G>T (n.3847+1G>T)
c.397+1G>T (n.397+1G>T)
c.3748+1G>T (n.3748+1G>T)
n.3844+1G>T (n.3844+1G>T)
c.3694+1G>T (n.3694+1G>T)
ClinVar dbSNP
5g.128335454C=CA1581269594FBN2c.3847+1G= (n.3847+1G=)
c.397+1G= (n.397+1G=)
c.3748+1G= (n.3748+1G=)
n.3844+1G= (n.3844+1G=)
c.3694+1G= (n.3694+1G=)
5g.128335454C>GCA360757889FBN2c.3847+1G>C (n.3847+1G>C)
c.397+1G>C (n.397+1G>C)
c.3748+1G>C (n.3748+1G>C)
n.3844+1G>C (n.3844+1G>C)
c.3694+1G>C (n.3694+1G>C)
5g.128335454C>TCA360757890FBN2c.3847+1G>A (n.3847+1G>A)
c.397+1G>A (n.397+1G>A)
c.3748+1G>A (n.3748+1G>A)
n.3844+1G>A (n.3844+1G>A)
c.3694+1G>A (n.3694+1G>A)
5g.128335455C>ACA360757891FBN2c.3847G>T (p.Asp1283Tyr)
c.397G>T (p.Asp133Tyr)
c.3748G>T (p.Asp1250Tyr)
n.3844G>T (p.Asp1282Tyr)
c.3694G>T (p.Asp1232Tyr)
5g.128335455C>GCA360757893FBN2c.3847G>C (p.Asp1283His)
c.397G>C (p.Asp133His)
c.3748G>C (p.Asp1250His)
n.3844G>C (p.Asp1282His)
c.3694G>C (p.Asp1232His)
5g.128335455C>TCA360757892FBN2c.3847G>A (p.Asp1283Asn)
c.397G>A (p.Asp133Asn)
c.3748G>A (p.Asp1250Asn)
n.3844G>A (p.Asp1282Asn)
c.3694G>A (p.Asp1232Asn)
5g.128335456T>ACA446310113FBN2c.3846A>T (p.Ala1282=)
c.396A>T (p.Ala132=)
c.3747A>T (p.Ala1249=)
n.3843A>T (p.Ala1281=)
c.3693A>T (p.Ala1231=)
5g.128335456T>CCA446310114FBN2c.3846A>G (p.Ala1282=)
c.396A>G (p.Ala132=)
c.3747A>G (p.Ala1249=)
n.3843A>G (p.Ala1281=)
c.3693A>G (p.Ala1231=)
5g.128335456T>GCA446310115FBN2c.3846A>C (p.Ala1282=)
c.396A>C (p.Ala132=)
c.3747A>C (p.Ala1249=)
n.3843A>C (p.Ala1281=)
c.3693A>C (p.Ala1231=)
5g.128335457G>ACA360757894FBN2c.3845C>T (p.Ala1282Val)
c.395C>T (p.Ala132Val)
c.3746C>T (p.Ala1249Val)
n.3842C>T (p.Ala1281Val)
c.3692C>T (p.Ala1231Val)
5g.128335457G>CCA360757895FBN2c.3845C>G (p.Ala1282Gly)
c.395C>G (p.Ala132Gly)
c.3746C>G (p.Ala1249Gly)
n.3842C>G (p.Ala1281Gly)
c.3692C>G (p.Ala1231Gly)
5g.128335457G>TCA360757896FBN2c.3845C>A (p.Ala1282Glu)
c.395C>A (p.Ala132Glu)
c.3746C>A (p.Ala1249Glu)
n.3842C>A (p.Ala1281Glu)
c.3692C>A (p.Ala1231Glu)
5g.128335458C>ACA360757897FBN2c.3844G>T (p.Ala1282Ser)
c.394G>T (p.Ala132Ser)
c.3745G>T (p.Ala1249Ser)
n.3841G>T (p.Ala1281Ser)
c.3691G>T (p.Ala1231Ser)
5g.128335458C>GCA360757898FBN2c.3844G>C (p.Ala1282Pro)
c.394G>C (p.Ala132Pro)
c.3745G>C (p.Ala1249Pro)
n.3841G>C (p.Ala1281Pro)
c.3691G>C (p.Ala1231Pro)
5g.128335458C>TCA360757899FBN2c.3844G>A (p.Ala1282Thr)
c.394G>A (p.Ala132Thr)
c.3745G>A (p.Ala1249Thr)
n.3841G>A (p.Ala1281Thr)
c.3691G>A (p.Ala1231Thr)
5g.128335459A>CCA360757900FBN2c.3843T>G (p.Cys1281Trp)
c.393T>G (p.Cys131Trp)
c.3744T>G (p.Cys1248Trp)
n.3840T>G (p.Cys1280Trp)
c.3690T>G (p.Cys1230Trp)
5g.128335459A>GCA446310117FBN2c.3843T>C (p.Cys1281=)
c.393T>C (p.Cys131=)
c.3744T>C (p.Cys1248=)
n.3840T>C (p.Cys1280=)
c.3690T>C (p.Cys1230=)
5g.128335459A>TCA360757901FBN2c.3843T>A (p.Cys1281Ter)
c.393T>A (p.Cys131Ter)
c.3744T>A (p.Cys1248Ter)
n.3840T>A (p.Cys1280Ter)
c.3690T>A (p.Cys1230Ter)
5g.128335460C>ACA360757902FBN2c.3842G>T (p.Cys1281Phe)
c.392G>T (p.Cys131Phe)
c.3743G>T (p.Cys1248Phe)
n.3839G>T (p.Cys1280Phe)
c.3689G>T (p.Cys1230Phe)
5g.128335460C>GCA360757903FBN2c.3842G>C (p.Cys1281Ser)
c.392G>C (p.Cys131Ser)
c.3743G>C (p.Cys1248Ser)
n.3839G>C (p.Cys1280Ser)
c.3689G>C (p.Cys1230Ser)
5g.128335460C>TCA360757904FBN2c.3842G>A (p.Cys1281Tyr)
c.392G>A (p.Cys131Tyr)
c.3743G>A (p.Cys1248Tyr)
n.3839G>A (p.Cys1280Tyr)
c.3689G>A (p.Cys1230Tyr)
5g.128335461A>CCA360757905FBN2c.3841T>G (p.Cys1281Gly)
c.391T>G (p.Cys131Gly)
c.3742T>G (p.Cys1248Gly)
n.3838T>G (p.Cys1280Gly)
c.3688T>G (p.Cys1230Gly)
5g.128335461A>GCA360757907FBN2c.3841T>C (p.Cys1281Arg)
c.391T>C (p.Cys131Arg)
c.3742T>C (p.Cys1248Arg)
n.3838T>C (p.Cys1280Arg)
c.3688T>C (p.Cys1230Arg)
5g.128335461A>TCA360757906FBN2c.3841T>A (p.Cys1281Ser)
c.391T>A (p.Cys131Ser)
c.3742T>A (p.Cys1248Ser)
n.3838T>A (p.Cys1280Ser)
c.3688T>A (p.Cys1230Ser)
5g.128335462C>ACA446310118FBN2c.3840G>T (p.Ser1280=)
c.390G>T (p.Ser130=)
c.3741G>T (p.Ser1247=)
n.3837G>T (p.Ser1279=)
c.3687G>T (p.Ser1229=)
5g.128335462C=CA1581269595FBN2c.3840G= (p.Ser1280=)
c.390G= (p.Ser130=)
c.3741G= (p.Ser1247=)
n.3837G= (p.Ser1279=)
c.3687G= (p.Ser1229=)
5g.128335462C>GCA446310119FBN2c.3840G>C (p.Ser1280=)
c.390G>C (p.Ser130=)
c.3741G>C (p.Ser1247=)
n.3837G>C (p.Ser1279=)
c.3687G>C (p.Ser1229=)
5g.128335462C>TCA3395131FBN2c.3840G>A (p.Ser1280=)
c.390G>A (p.Ser130=)
c.3741G>A (p.Ser1247=)
n.3837G>A (p.Ser1279=)
c.3687G>A (p.Ser1229=)
ClinVar dbSNP ExAC gnomAD
5g.128335463G>ACA324510FBN2c.3839C>T (p.Ser1280Leu)
c.389C>T (p.Ser130Leu)
c.3740C>T (p.Ser1247Leu)
n.3836C>T (p.Ser1279Leu)
c.3686C>T (p.Ser1229Leu)
ClinVar dbSNP ExAC gnomAD COSMIC COSMIC
5g.128335463G>CCA360757908FBN2c.3839C>G (p.Ser1280Trp)
c.389C>G (p.Ser130Trp)
c.3740C>G (p.Ser1247Trp)
n.3836C>G (p.Ser1279Trp)
c.3686C>G (p.Ser1229Trp)
5g.128335463G=CA1581269596FBN2c.3839C= (p.Ser1280=)
c.389C= (p.Ser130=)
c.3740C= (p.Ser1247=)
n.3836C= (p.Ser1279=)
c.3686C= (p.Ser1229=)
5g.128335463G>TCA360757909FBN2c.3839C>A (p.Ser1280Ter)
c.389C>A (p.Ser130Ter)
c.3740C>A (p.Ser1247Ter)
n.3836C>A (p.Ser1279Ter)
c.3686C>A (p.Ser1229Ter)
5g.128335464A>CCA360757910FBN2c.3838T>G (p.Ser1280Ala)
c.388T>G (p.Ser130Ala)
c.3739T>G (p.Ser1247Ala)
n.3835T>G (p.Ser1279Ala)
c.3685T>G (p.Ser1229Ala)
5g.128335464A>GCA360757911FBN2c.3838T>C (p.Ser1280Pro)
c.388T>C (p.Ser130Pro)
c.3739T>C (p.Ser1247Pro)
n.3835T>C (p.Ser1279Pro)
c.3685T>C (p.Ser1229Pro)
5g.128335464A>TCA360757912FBN2c.3838T>A (p.Ser1280Thr)
c.388T>A (p.Ser130Thr)
c.3739T>A (p.Ser1247Thr)
n.3835T>A (p.Ser1279Thr)
c.3685T>A (p.Ser1229Thr)
5g.128335465T>ACA360757913FBN2c.3837A>T (p.Arg1279Ser)
c.387A>T (p.Arg129Ser)
c.3738A>T (p.Arg1246Ser)
n.3834A>T (p.Arg1278Ser)
c.3684A>T (p.Arg1228Ser)
5g.128335465T>CCA446310120FBN2c.3837A>G (p.Arg1279=)
c.387A>G (p.Arg129=)
c.3738A>G (p.Arg1246=)
n.3834A>G (p.Arg1278=)
c.3684A>G (p.Arg1228=)
5g.128335465T>GCA360757914FBN2c.3837A>C (p.Arg1279Ser)
c.387A>C (p.Arg129Ser)
c.3738A>C (p.Arg1246Ser)
n.3834A>C (p.Arg1278Ser)
c.3684A>C (p.Arg1228Ser)
5g.128335466C>ACA360757915FBN2c.3836G>T (p.Arg1279Ile)
c.386G>T (p.Arg129Ile)
c.3737G>T (p.Arg1246Ile)
n.3833G>T (p.Arg1278Ile)
c.3683G>T (p.Arg1228Ile)
5g.128335466C>GCA360757916FBN2c.3836G>C (p.Arg1279Thr)
c.386G>C (p.Arg129Thr)
c.3737G>C (p.Arg1246Thr)
n.3833G>C (p.Arg1278Thr)
c.3683G>C (p.Arg1228Thr)

Number of alleles fetched