Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128335543A=CA1581269625FBN2c.3759T= (p.Cys1253=)
c.309T= (p.Cys103=)
c.3660T= (p.Cys1220=)
n.3756T= (p.Cys1252=)
c.3606T= (p.Cys1202=)
5g.128335543A>CCA281518FBN2c.3759T>G (p.Cys1253Trp)
c.309T>G (p.Cys103Trp)
c.3660T>G (p.Cys1220Trp)
n.3756T>G (p.Cys1252Trp)
c.3606T>G (p.Cys1202Trp)
ClinVar dbSNP
5g.128335543A>GCA446310167FBN2c.3759T>C (p.Cys1253=)
c.309T>C (p.Cys103=)
c.3660T>C (p.Cys1220=)
n.3756T>C (p.Cys1252=)
c.3606T>C (p.Cys1202=)
5g.128335543A>TCA360758088FBN2c.3759T>A (p.Cys1253Ter)
c.309T>A (p.Cys103Ter)
c.3660T>A (p.Cys1220Ter)
n.3756T>A (p.Cys1252Ter)
c.3606T>A (p.Cys1202Ter)
5g.128335544C>ACA360758089FBN2c.3758G>T (p.Cys1253Phe)
c.308G>T (p.Cys103Phe)
c.3659G>T (p.Cys1220Phe)
n.3755G>T (p.Cys1252Phe)
c.3605G>T (p.Cys1202Phe)
5g.128335544C=CA1581269626FBN2c.3758G= (p.Cys1253=)
c.308G= (p.Cys103=)
c.3659G= (p.Cys1220=)
n.3755G= (p.Cys1252=)
c.3605G= (p.Cys1202=)
5g.128335544C>GCA360758090FBN2c.3758G>C (p.Cys1253Ser)
c.308G>C (p.Cys103Ser)
c.3659G>C (p.Cys1220Ser)
n.3755G>C (p.Cys1252Ser)
c.3605G>C (p.Cys1202Ser)
5g.128335544C>TCA281512FBN2c.3758G>A (p.Cys1253Tyr)
c.308G>A (p.Cys103Tyr)
c.3659G>A (p.Cys1220Tyr)
n.3755G>A (p.Cys1252Tyr)
c.3605G>A (p.Cys1202Tyr)
ClinVar dbSNP
5g.128335545A>CCA360758091FBN2c.3757T>G (p.Cys1253Gly)
c.307T>G (p.Cys103Gly)
c.3658T>G (p.Cys1220Gly)
n.3754T>G (p.Cys1252Gly)
c.3604T>G (p.Cys1202Gly)
5g.128335545A>GCA360758092FBN2c.3757T>C (p.Cys1253Arg)
c.307T>C (p.Cys103Arg)
c.3658T>C (p.Cys1220Arg)
n.3754T>C (p.Cys1252Arg)
c.3604T>C (p.Cys1202Arg)
5g.128335545A>TCA360758093FBN2c.3757T>A (p.Cys1253Ser)
c.307T>A (p.Cys103Ser)
c.3658T>A (p.Cys1220Ser)
n.3754T>A (p.Cys1252Ser)
c.3604T>A (p.Cys1202Ser)
5g.128335546G>ACA446310168FBN2c.3756C>T (p.Gly1252=)
c.306C>T (p.Gly102=)
c.3657C>T (p.Gly1219=)
n.3753C>T (p.Gly1251=)
c.3603C>T (p.Gly1201=)
5g.128335546G>CCA446310169FBN2c.3756C>G (p.Gly1252=)
c.306C>G (p.Gly102=)
c.3657C>G (p.Gly1219=)
n.3753C>G (p.Gly1251=)
c.3603C>G (p.Gly1201=)
5g.128335546G>TCA446310170FBN2c.3756C>A (p.Gly1252=)
c.306C>A (p.Gly102=)
c.3657C>A (p.Gly1219=)
n.3753C>A (p.Gly1251=)
c.3603C>A (p.Gly1201=)
5g.128335547C>ACA360758094FBN2c.3755G>T (p.Gly1252Val)
c.305G>T (p.Gly102Val)
c.3656G>T (p.Gly1219Val)
n.3752G>T (p.Gly1251Val)
c.3602G>T (p.Gly1201Val)
5g.128335547C=CA1581269627FBN2c.3755G= (p.Gly1252=)
c.305G= (p.Gly102=)
c.3656G= (p.Gly1219=)
n.3752G= (p.Gly1251=)
c.3602G= (p.Gly1201=)
5g.128335547C>GCA360758095FBN2c.3755G>C (p.Gly1252Ala)
c.305G>C (p.Gly102Ala)
c.3656G>C (p.Gly1219Ala)
n.3752G>C (p.Gly1251Ala)
c.3602G>C (p.Gly1201Ala)
5g.128335547C>TCA360758096FBN2c.3755G>A (p.Gly1252Asp)
c.305G>A (p.Gly102Asp)
c.3656G>A (p.Gly1219Asp)
n.3752G>A (p.Gly1251Asp)
c.3602G>A (p.Gly1201Asp)
5g.128335547_128335548delinsTTCA645546436FBN2c.3754_3755delinsAA (p.Gly1252Asn)
c.304_305delinsAA (p.Gly102Asn)
c.3655_3656delinsAA (p.Gly1219Asn)
n.3751_3752delinsAA (p.Gly1251Asn)
c.3601_3602delinsAA (p.Gly1201Asn)
COSMIC COSMIC
5g.128335548C>ACA360758097FBN2c.3754G>T (p.Gly1252Cys)
c.304G>T (p.Gly102Cys)
c.3655G>T (p.Gly1219Cys)
n.3751G>T (p.Gly1251Cys)
c.3601G>T (p.Gly1201Cys)
5g.128335548C>GCA360758098FBN2c.3754G>C (p.Gly1252Arg)
c.304G>C (p.Gly102Arg)
c.3655G>C (p.Gly1219Arg)
n.3751G>C (p.Gly1251Arg)
c.3601G>C (p.Gly1201Arg)
5g.128335548C>TCA360758099FBN2c.3754G>A (p.Gly1252Ser)
c.304G>A (p.Gly102Ser)
c.3655G>A (p.Gly1219Ser)
n.3751G>A (p.Gly1251Ser)
c.3601G>A (p.Gly1201Ser)
5g.128335549T>ACA446310171FBN2c.3753A>T (p.Gly1251=)
c.303A>T (p.Gly101=)
c.3654A>T (p.Gly1218=)
n.3750A>T (p.Gly1250=)
c.3600A>T (p.Gly1200=)
5g.128335549T>CCA446310173FBN2c.3753A>G (p.Gly1251=)
c.303A>G (p.Gly101=)
c.3654A>G (p.Gly1218=)
n.3750A>G (p.Gly1250=)
c.3600A>G (p.Gly1200=)
5g.128335549T>GCA446310172FBN2c.3753A>C (p.Gly1251=)
c.303A>C (p.Gly101=)
c.3654A>C (p.Gly1218=)
n.3750A>C (p.Gly1250=)
c.3600A>C (p.Gly1200=)
5g.128335550C>ACA360758100FBN2c.3752G>T (p.Gly1251Val)
c.302G>T (p.Gly101Val)
c.3653G>T (p.Gly1218Val)
n.3749G>T (p.Gly1250Val)
c.3599G>T (p.Gly1200Val)
5g.128335550C=CA1581269628FBN2c.3752G= (p.Gly1251=)
c.302G= (p.Gly101=)
c.3653G= (p.Gly1218=)
n.3749G= (p.Gly1250=)
c.3599G= (p.Gly1200=)
5g.128335550C>GCA360758101FBN2c.3752G>C (p.Gly1251Ala)
c.302G>C (p.Gly101Ala)
c.3653G>C (p.Gly1218Ala)
n.3749G>C (p.Gly1250Ala)
c.3599G>C (p.Gly1200Ala)
5g.128335550C>TCA3395141FBN2c.3752G>A (p.Gly1251Glu)
c.302G>A (p.Gly101Glu)
c.3653G>A (p.Gly1218Glu)
n.3749G>A (p.Gly1250Glu)
c.3599G>A (p.Gly1200Glu)
ClinVar dbSNP ExAC gnomAD COSMIC COSMIC
5g.128335551C>ACA360758103FBN2c.3751G>T (p.Gly1251Ter)
c.301G>T (p.Gly101Ter)
c.3652G>T (p.Gly1218Ter)
n.3748G>T (p.Gly1250Ter)
c.3598G>T (p.Gly1200Ter)
5g.128335551C=CA1581269629FBN2c.3751G= (p.Gly1251=)
c.301G= (p.Gly101=)
c.3652G= (p.Gly1218=)
n.3748G= (p.Gly1250=)
c.3598G= (p.Gly1200=)
5g.128335551C>GCA360758102FBN2c.3751G>C (p.Gly1251Arg)
c.301G>C (p.Gly101Arg)
c.3652G>C (p.Gly1218Arg)
n.3748G>C (p.Gly1250Arg)
c.3598G>C (p.Gly1200Arg)
5g.128335551C>TCA127013871FBN2c.3751G>A (p.Gly1251Arg)
c.301G>A (p.Gly101Arg)
c.3652G>A (p.Gly1218Arg)
n.3748G>A (p.Gly1250Arg)
c.3598G>A (p.Gly1200Arg)
ClinVar dbSNP gnomAD
5g.128335552G>ACA3395142FBN2c.3750C>T (p.Asn1250=)
c.300C>T (p.Asn100=)
c.3651C>T (p.Asn1217=)
n.3747C>T (p.Asn1249=)
c.3597C>T (p.Asn1199=)
ClinVar dbSNP ExAC gnomAD COSMIC COSMIC
5g.128335552G>CCA360758104FBN2c.3750C>G (p.Asn1250Lys)
c.300C>G (p.Asn100Lys)
c.3651C>G (p.Asn1217Lys)
n.3747C>G (p.Asn1249Lys)
c.3597C>G (p.Asn1199Lys)
5g.128335552G=CA1581269630FBN2c.3750C= (p.Asn1250=)
c.300C= (p.Asn100=)
c.3651C= (p.Asn1217=)
n.3747C= (p.Asn1249=)
c.3597C= (p.Asn1199=)
5g.128335552G>TCA360758105FBN2c.3750C>A (p.Asn1250Lys)
c.300C>A (p.Asn100Lys)
c.3651C>A (p.Asn1217Lys)
n.3747C>A (p.Asn1249Lys)
c.3597C>A (p.Asn1199Lys)
5g.128335553T>ACA360758106FBN2c.3749A>T (p.Asn1250Ile)
c.299A>T (p.Asn100Ile)
c.3650A>T (p.Asn1217Ile)
n.3746A>T (p.Asn1249Ile)
c.3596A>T (p.Asn1199Ile)
5g.128335553T>CCA360758108FBN2c.3749A>G (p.Asn1250Ser)
c.299A>G (p.Asn100Ser)
c.3650A>G (p.Asn1217Ser)
n.3746A>G (p.Asn1249Ser)
c.3596A>G (p.Asn1199Ser)
COSMIC COSMIC
5g.128335553T>GCA360758107FBN2c.3749A>C (p.Asn1250Thr)
c.299A>C (p.Asn100Thr)
c.3650A>C (p.Asn1217Thr)
n.3746A>C (p.Asn1249Thr)
c.3596A>C (p.Asn1199Thr)
5g.128335554T>ACA360758109FBN2c.3748A>T (p.Asn1250Tyr)
c.298A>T (p.Asn100Tyr)
c.3649A>T (p.Asn1217Tyr)
n.3745A>T (p.Asn1249Tyr)
c.3595A>T (p.Asn1199Tyr)
5g.128335554T>CCA3395143FBN2c.3748A>G (p.Asn1250Asp)
c.298A>G (p.Asn100Asp)
c.3649A>G (p.Asn1217Asp)
n.3745A>G (p.Asn1249Asp)
c.3595A>G (p.Asn1199Asp)
dbSNP ExAC gnomAD
5g.128335554T>GCA360758110FBN2c.3748A>C (p.Asn1250His)
c.298A>C (p.Asn100His)
c.3649A>C (p.Asn1217His)
n.3745A>C (p.Asn1249His)
c.3595A>C (p.Asn1199His)
5g.128335554T=CA1581269631FBN2c.3748A= (p.Asn1250=)
c.298A= (p.Asn100=)
c.3649A= (p.Asn1217=)
n.3745A= (p.Asn1249=)
c.3595A= (p.Asn1199=)
5g.128335555C>ACA360758111FBN2c.3747G>T (p.Met1249Ile)
c.297G>T (p.Met99Ile)
c.3648G>T (p.Met1216Ile)
n.3744G>T (p.Met1248Ile)
c.3594G>T (p.Met1198Ile)
5g.128335555C>GCA360758112FBN2c.3747G>C (p.Met1249Ile)
c.297G>C (p.Met99Ile)
c.3648G>C (p.Met1216Ile)
n.3744G>C (p.Met1248Ile)
c.3594G>C (p.Met1198Ile)
5g.128335555C>TCA360758113FBN2c.3747G>A (p.Met1249Ile)
c.297G>A (p.Met99Ile)
c.3648G>A (p.Met1216Ile)
n.3744G>A (p.Met1248Ile)
c.3594G>A (p.Met1198Ile)
COSMIC COSMIC
5g.128335556A=CA1581269632FBN2c.3746T= (p.Met1249=)
c.296T= (p.Met99=)
c.3647T= (p.Met1216=)
n.3743T= (p.Met1248=)
c.3593T= (p.Met1198=)
5g.128335556A>CCA360758114FBN2c.3746T>G (p.Met1249Arg)
c.296T>G (p.Met99Arg)
c.3647T>G (p.Met1216Arg)
n.3743T>G (p.Met1248Arg)
c.3593T>G (p.Met1198Arg)
5g.128335556A>GCA360758115FBN2c.3746T>C (p.Met1249Thr)
c.296T>C (p.Met99Thr)
c.3647T>C (p.Met1216Thr)
n.3743T>C (p.Met1248Thr)
c.3593T>C (p.Met1198Thr)

Number of alleles fetched