Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128338882G>ACA2675117666FBN2n.256+51C>T
n.337+51C>T
c.3472+51C>T (n.3472+51C>T)
c.22+51C>T (n.22+51C>T)
c.3373+51C>T (n.3373+51C>T)
c.3469+51C>T (n.3469+51C>T)
c.3319+51C>T (n.3319+51C>T)
 gnomAD v4
5g.128338882G>CCA1581271132FBN2n.256+51C>G
n.337+51C>G
c.3472+51C>G (n.3472+51C>G)
c.22+51C>G (n.22+51C>G)
c.3373+51C>G (n.3373+51C>G)
c.3469+51C>G (n.3469+51C>G)
c.3319+51C>G (n.3319+51C>G)
 dbSNP
5g.128338882G=CA1581271131FBN2n.256+51C=
n.337+51C=
c.3472+51C= (n.3472+51C=)
c.22+51C= (n.22+51C=)
c.3373+51C= (n.3373+51C=)
c.3469+51C= (n.3469+51C=)
c.3319+51C= (n.3319+51C=)
5g.128338882G>TCA3395225FBN2n.256+51C>A
n.337+51C>A
c.3472+51C>A (n.3472+51C>A)
c.22+51C>A (n.22+51C>A)
c.3373+51C>A (n.3373+51C>A)
c.3469+51C>A (n.3469+51C>A)
c.3319+51C>A (n.3319+51C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128338883T>ACA1581271134FBN2n.256+50A>T
n.337+50A>T
c.3472+50A>T (n.3472+50A>T)
c.22+50A>T (n.22+50A>T)
c.3373+50A>T (n.3373+50A>T)
c.3469+50A>T (n.3469+50A>T)
c.3319+50A>T (n.3319+50A>T)
 dbSNP
5g.128338883T=CA1581271133FBN2n.256+50A=
n.337+50A=
c.3472+50A= (n.3472+50A=)
c.22+50A= (n.22+50A=)
c.3373+50A= (n.3373+50A=)
c.3469+50A= (n.3469+50A=)
c.3319+50A= (n.3319+50A=)
5g.128338883dupCA2675117667FBN2n.256+50dup
n.337+50dup
c.3472+50dup (n.3472+50dup)
c.22+50dup (n.22+50dup)
c.3373+50dup (n.3373+50dup)
c.3469+50dup (n.3469+50dup)
c.3319+50dup (n.3319+50dup)
 gnomAD v4
5g.128338886G>ACA2578444172FBN2n.256+47C>T
n.337+47C>T
c.3472+47C>T (n.3472+47C>T)
c.22+47C>T (n.22+47C>T)
c.3373+47C>T (n.3373+47C>T)
c.3469+47C>T (n.3469+47C>T)
c.3319+47C>T (n.3319+47C>T)
5g.128338886G>TCA2675117668FBN2n.256+47C>A
n.337+47C>A
c.3472+47C>A (n.3472+47C>A)
c.22+47C>A (n.22+47C>A)
c.3373+47C>A (n.3373+47C>A)
c.3469+47C>A (n.3469+47C>A)
c.3319+47C>A (n.3319+47C>A)
 gnomAD v4
5g.128338887T>ACA1581271135FBN2n.256+46A>T
n.337+46A>T
c.3472+46A>T (n.3472+46A>T)
c.22+46A>T (n.22+46A>T)
c.3373+46A>T (n.3373+46A>T)
c.3469+46A>T (n.3469+46A>T)
c.3319+46A>T (n.3319+46A>T)
 dbSNP
5g.128338887T=CA1581271136FBN2n.256+46A=
n.337+46A=
c.3472+46A= (n.3472+46A=)
c.22+46A= (n.22+46A=)
c.3373+46A= (n.3373+46A=)
c.3469+46A= (n.3469+46A=)
c.3319+46A= (n.3319+46A=)
5g.128338888G>ACA2675117669FBN2n.256+45C>T
n.337+45C>T
c.3472+45C>T (n.3472+45C>T)
c.22+45C>T (n.22+45C>T)
c.3373+45C>T (n.3373+45C>T)
c.3469+45C>T (n.3469+45C>T)
c.3319+45C>T (n.3319+45C>T)
 gnomAD v4
5g.128338888G>TCA2675117670FBN2n.256+45C>A
n.337+45C>A
c.3472+45C>A (n.3472+45C>A)
c.22+45C>A (n.22+45C>A)
c.3373+45C>A (n.3373+45C>A)
c.3469+45C>A (n.3469+45C>A)
c.3319+45C>A (n.3319+45C>A)
 gnomAD v4
5g.128338889C=CA1581271137FBN2n.256+44G=
n.337+44G=
c.3472+44G= (n.3472+44G=)
c.22+44G= (n.22+44G=)
c.3373+44G= (n.3373+44G=)
c.3469+44G= (n.3469+44G=)
c.3319+44G= (n.3319+44G=)
5g.128338889C>TCA3395227FBN2n.256+44G>A
n.337+44G>A
c.3472+44G>A (n.3472+44G>A)
c.22+44G>A (n.22+44G>A)
c.3373+44G>A (n.3373+44G>A)
c.3469+44G>A (n.3469+44G>A)
c.3319+44G>A (n.3319+44G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128338890T>GCA803639334FBN2n.256+43A>C
n.337+43A>C
c.3472+43A>C (n.3472+43A>C)
c.22+43A>C (n.22+43A>C)
c.3373+43A>C (n.3373+43A>C)
c.3469+43A>C (n.3469+43A>C)
c.3319+43A>C (n.3319+43A>C)
 dbSNP
5g.128338890T=CA1581271138FBN2n.256+43A=
n.337+43A=
c.3472+43A= (n.3472+43A=)
c.22+43A= (n.22+43A=)
c.3373+43A= (n.3373+43A=)
c.3469+43A= (n.3469+43A=)
c.3319+43A= (n.3319+43A=)
5g.128338890_128338891insGGTCA3395226FBN2n.256+43_256+44insCCA
n.337+43_337+44insCCA
c.3472+43_3472+44insCCA (n.3472+43_3472+44insCCA)
c.22+43_22+44insCCA (n.22+43_22+44insCCA)
c.3373+43_3373+44insCCA (n.3373+43_3373+44insCCA)
c.3469+43_3469+44insCCA (n.3469+43_3469+44insCCA)
c.3319+43_3319+44insCCA (n.3319+43_3319+44insCCA)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128338891A=CA1581271139FBN2n.256+42T=
n.337+42T=
c.3472+42T= (n.3472+42T=)
c.22+42T= (n.22+42T=)
c.3373+42T= (n.3373+42T=)
c.3469+42T= (n.3469+42T=)
c.3319+42T= (n.3319+42T=)
5g.128338891A>GCA2675117671FBN2n.256+42T>C
n.337+42T>C
c.3472+42T>C (n.3472+42T>C)
c.22+42T>C (n.22+42T>C)
c.3373+42T>C (n.3373+42T>C)
c.3469+42T>C (n.3469+42T>C)
c.3319+42T>C (n.3319+42T>C)
 gnomAD v4
5g.128338891_128338892insTGGCA3395228FBN2n.256+41_256+42insCCA
n.337+41_337+42insCCA
c.3472+41_3472+42insCCA (n.3472+41_3472+42insCCA)
c.22+41_22+42insCCA (n.22+41_22+42insCCA)
c.3373+41_3373+42insCCA (n.3373+41_3373+42insCCA)
c.3469+41_3469+42insCCA (n.3469+41_3469+42insCCA)
c.3319+41_3319+42insCCA (n.3319+41_3319+42insCCA)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128338892delCA2675117672FBN2n.256+41del
n.337+41del
c.3472+41del (n.3472+41del)
c.22+41del (n.22+41del)
c.3373+41del (n.3373+41del)
c.3469+41del (n.3469+41del)
c.3319+41del (n.3319+41del)
 gnomAD v4
5g.128338892G>ACA2675117673FBN2n.256+41C>T
n.337+41C>T
c.3472+41C>T (n.3472+41C>T)
c.22+41C>T (n.22+41C>T)
c.3373+41C>T (n.3373+41C>T)
c.3469+41C>T (n.3469+41C>T)
c.3319+41C>T (n.3319+41C>T)
 gnomAD v4
5g.128338892G>CCA803639336FBN2n.256+41C>G
n.337+41C>G
c.3472+41C>G (n.3472+41C>G)
c.22+41C>G (n.22+41C>G)
c.3373+41C>G (n.3373+41C>G)
c.3469+41C>G (n.3469+41C>G)
c.3319+41C>G (n.3319+41C>G)
 dbSNP gnomAD v3 gnomAD v4
5g.128338892G=CA1581271140FBN2n.256+41C=
n.337+41C=
c.3472+41C= (n.3472+41C=)
c.22+41C= (n.22+41C=)
c.3373+41C= (n.3373+41C=)
c.3469+41C= (n.3469+41C=)
c.3319+41C= (n.3319+41C=)
5g.128338892G>TCA2675117674FBN2n.256+41C>A
n.337+41C>A
c.3472+41C>A (n.3472+41C>A)
c.22+41C>A (n.22+41C>A)
c.3373+41C>A (n.3373+41C>A)
c.3469+41C>A (n.3469+41C>A)
c.3319+41C>A (n.3319+41C>A)
 gnomAD v4
5g.128338893T>CCA1081360568FBN2n.256+40A>G
n.337+40A>G
c.3472+40A>G (n.3472+40A>G)
c.22+40A>G (n.22+40A>G)
c.3373+40A>G (n.3373+40A>G)
c.3469+40A>G (n.3469+40A>G)
c.3319+40A>G (n.3319+40A>G)
 dbSNP gnomAD v3 gnomAD v4
5g.128338893T=CA1581271141FBN2n.256+40A=
n.337+40A=
c.3472+40A= (n.3472+40A=)
c.22+40A= (n.22+40A=)
c.3373+40A= (n.3373+40A=)
c.3469+40A= (n.3469+40A=)
c.3319+40A= (n.3319+40A=)
5g.128338893dupCA3395229FBN2n.256+40dup
n.337+40dup
c.3472+40dup (n.3472+40dup)
c.22+40dup (n.22+40dup)
c.3373+40dup (n.3373+40dup)
c.3469+40dup (n.3469+40dup)
c.3319+40dup (n.3319+40dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128338894A=CA1581271142FBN2n.256+39T=
n.337+39T=
c.3472+39T= (n.3472+39T=)
c.22+39T= (n.22+39T=)
c.3373+39T= (n.3373+39T=)
c.3469+39T= (n.3469+39T=)
c.3319+39T= (n.3319+39T=)
5g.128338894A>GCA3395230FBN2n.256+39T>C
n.337+39T>C
c.3472+39T>C (n.3472+39T>C)
c.22+39T>C (n.22+39T>C)
c.3373+39T>C (n.3373+39T>C)
c.3469+39T>C (n.3469+39T>C)
c.3319+39T>C (n.3319+39T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128338895T>CCA1081360569FBN2n.256+38A>G
n.337+38A>G
c.3472+38A>G (n.3472+38A>G)
c.22+38A>G (n.22+38A>G)
c.3373+38A>G (n.3373+38A>G)
c.3469+38A>G (n.3469+38A>G)
c.3319+38A>G (n.3319+38A>G)
 dbSNP gnomAD v3 gnomAD v4
5g.128338895T=CA1581271143FBN2n.256+38A=
n.337+38A=
c.3472+38A= (n.3472+38A=)
c.22+38A= (n.22+38A=)
c.3373+38A= (n.3373+38A=)
c.3469+38A= (n.3469+38A=)
c.3319+38A= (n.3319+38A=)
5g.128338897G>ACA2675117675FBN2n.256+36C>T
n.337+36C>T
c.3472+36C>T (n.3472+36C>T)
c.22+36C>T (n.22+36C>T)
c.3373+36C>T (n.3373+36C>T)
c.3469+36C>T (n.3469+36C>T)
c.3319+36C>T (n.3319+36C>T)
 gnomAD v4
5g.128338898T>GCA2604174368FBN2n.256+35A>C
n.337+35A>C
c.3472+35A>C (n.3472+35A>C)
c.22+35A>C (n.22+35A>C)
c.3373+35A>C (n.3373+35A>C)
c.3469+35A>C (n.3469+35A>C)
c.3319+35A>C (n.3319+35A>C)
 dbSNP gnomAD v3 gnomAD v4
5g.128338899T>CCA2578444173FBN2n.256+34A>G
n.337+34A>G
c.3472+34A>G (n.3472+34A>G)
c.22+34A>G (n.22+34A>G)
c.3373+34A>G (n.3373+34A>G)
c.3469+34A>G (n.3469+34A>G)
c.3319+34A>G (n.3319+34A>G)
5g.128338900T>ACA3395231FBN2n.256+33A>T
n.337+33A>T
c.3472+33A>T (n.3472+33A>T)
c.22+33A>T (n.22+33A>T)
c.3373+33A>T (n.3373+33A>T)
c.3469+33A>T (n.3469+33A>T)
c.3319+33A>T (n.3319+33A>T)
 dbSNP ExAC gnomAD v2
5g.128338900T=CA1581271144FBN2n.256+33A=
n.337+33A=
c.3472+33A= (n.3472+33A=)
c.22+33A= (n.22+33A=)
c.3373+33A= (n.3373+33A=)
c.3469+33A= (n.3469+33A=)
c.3319+33A= (n.3319+33A=)
5g.128338902_128338904delCA2563651345FBN2n.256+29_256+31del
n.337+29_337+31del
c.3472+29_3472+31del (n.3472+29_3472+31del)
c.22+29_22+31del (n.22+29_22+31del)
c.3373+29_3373+31del (n.3373+29_3373+31del)
c.3469+29_3469+31del (n.3469+29_3469+31del)
c.3319+29_3319+31del (n.3319+29_3319+31del)
5g.128338903A>CCA2578444174FBN2n.256+30T>G
n.337+30T>G
c.3472+30T>G (n.3472+30T>G)
c.22+30T>G (n.22+30T>G)
c.3373+30T>G (n.3373+30T>G)
c.3469+30T>G (n.3469+30T>G)
c.3319+30T>G (n.3319+30T>G)
 gnomAD v4
5g.128338905C>ACA2675117676FBN2n.256+28G>T
n.337+28G>T
c.3472+28G>T (n.3472+28G>T)
c.22+28G>T (n.22+28G>T)
c.3373+28G>T (n.3373+28G>T)
c.3469+28G>T (n.3469+28G>T)
c.3319+28G>T (n.3319+28G>T)
 gnomAD v4
5g.128338906T>GCA2501093467FBN2n.256+27A>C
n.337+27A>C
c.3472+27A>C (n.3472+27A>C)
c.22+27A>C (n.22+27A>C)
c.3373+27A>C (n.3373+27A>C)
c.3469+27A>C (n.3469+27A>C)
c.3319+27A>C (n.3319+27A>C)
5g.128338908G>CCA1581271146FBN2n.256+25C>G
n.337+25C>G
c.3472+25C>G (n.3472+25C>G)
c.22+25C>G (n.22+25C>G)
c.3373+25C>G (n.3373+25C>G)
c.3469+25C>G (n.3469+25C>G)
c.3319+25C>G (n.3319+25C>G)
 dbSNP gnomAD v4
5g.128338908G=CA1581271145FBN2n.256+25C=
n.337+25C=
c.3472+25C= (n.3472+25C=)
c.22+25C= (n.22+25C=)
c.3373+25C= (n.3373+25C=)
c.3469+25C= (n.3469+25C=)
c.3319+25C= (n.3319+25C=)
5g.128338909C=CA1581271147FBN2n.256+24G=
n.337+24G=
c.3472+24G= (n.3472+24G=)
c.22+24G= (n.22+24G=)
c.3373+24G= (n.3373+24G=)
c.3469+24G= (n.3469+24G=)
c.3319+24G= (n.3319+24G=)
5g.128338909C>TCA3395232FBN2n.256+24G>A
n.337+24G>A
c.3472+24G>A (n.3472+24G>A)
c.22+24G>A (n.22+24G>A)
c.3373+24G>A (n.3373+24G>A)
c.3469+24G>A (n.3469+24G>A)
c.3319+24G>A (n.3319+24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128338910G>ACA3395233FBN2n.256+23C>T
n.337+23C>T
c.3472+23C>T (n.3472+23C>T)
c.22+23C>T (n.22+23C>T)
c.3373+23C>T (n.3373+23C>T)
c.3469+23C>T (n.3469+23C>T)
c.3319+23C>T (n.3319+23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128338910G=CA1581271148FBN2n.256+23C=
n.337+23C=
c.3472+23C= (n.3472+23C=)
c.22+23C= (n.22+23C=)
c.3373+23C= (n.3373+23C=)
c.3469+23C= (n.3469+23C=)
c.3319+23C= (n.3319+23C=)
5g.128338911A>CCA2511525969FBN2n.256+22T>G
n.337+22T>G
c.3472+22T>G (n.3472+22T>G)
c.22+22T>G (n.22+22T>G)
c.3373+22T>G (n.3373+22T>G)
c.3469+22T>G (n.3469+22T>G)
c.3319+22T>G (n.3319+22T>G)
5g.128338911A>TCA2675117677FBN2n.256+22T>A
n.337+22T>A
c.3472+22T>A (n.3472+22T>A)
c.22+22T>A (n.22+22T>A)
c.3373+22T>A (n.3373+22T>A)
c.3469+22T>A (n.3469+22T>A)
c.3319+22T>A (n.3319+22T>A)
 gnomAD v4
5g.128338912G>ACA1581271150FBN2n.256+21C>T
n.337+21C>T
c.3472+21C>T (n.3472+21C>T)
c.22+21C>T (n.22+21C>T)
c.3373+21C>T (n.3373+21C>T)
c.3469+21C>T (n.3469+21C>T)
c.3319+21C>T (n.3319+21C>T)
 dbSNP gnomAD v4
5g.128338912G=CA1581271149FBN2n.256+21C=
n.337+21C=
c.3472+21C= (n.3472+21C=)
c.22+21C= (n.22+21C=)
c.3373+21C= (n.3373+21C=)
c.3469+21C= (n.3469+21C=)
c.3319+21C= (n.3319+21C=)
5g.128338912_128338915delinsGGAACA1581271151FBN2n.256+18_256+21delinsTTCC
n.337+18_337+21delinsTTCC
c.3472+18_3472+21delinsTTCC (n.3472+18_3472+21delinsTTCC)
c.22+18_22+21delinsTTCC (n.22+18_22+21delinsTTCC)
c.3373+18_3373+21delinsTTCC (n.3373+18_3373+21delinsTTCC)
c.3469+18_3469+21delinsTTCC (n.3469+18_3469+21delinsTTCC)
c.3319+18_3319+21delinsTTCC (n.3319+18_3319+21delinsTTCC)
5g.128338913G>TCA2768335996FBN2n.256+20C>A
n.337+20C>A
c.3472+20C>A (n.3472+20C>A)
c.22+20C>A (n.22+20C>A)
c.3373+20C>A (n.3373+20C>A)
c.3469+20C>A (n.3469+20C>A)
c.3319+20C>A (n.3319+20C>A)
5g.128338915_128338917delCA1581271152FBN2n.256+18_256+20del
n.337+18_337+20del
c.3472+18_3472+20del (n.3472+18_3472+20del)
c.22+18_22+20del (n.22+18_22+20del)
c.3373+18_3373+20del (n.3373+18_3373+20del)
c.3469+18_3469+20del (n.3469+18_3469+20del)
c.3319+18_3319+20del (n.3319+18_3319+20del)
 dbSNP gnomAD v4
5g.128338916G>ACA2675117678FBN2n.256+17C>T
n.337+17C>T
c.3472+17C>T (n.3472+17C>T)
c.22+17C>T (n.22+17C>T)
c.3373+17C>T (n.3373+17C>T)
c.3469+17C>T (n.3469+17C>T)
c.3319+17C>T (n.3319+17C>T)
 gnomAD v4
5g.128338916G>CCA803639346FBN2n.256+17C>G
n.337+17C>G
c.3472+17C>G (n.3472+17C>G)
c.22+17C>G (n.22+17C>G)
c.3373+17C>G (n.3373+17C>G)
c.3469+17C>G (n.3469+17C>G)
c.3319+17C>G (n.3319+17C>G)
 dbSNP gnomAD v3 gnomAD v4
5g.128338916G=CA1581271153FBN2n.256+17C=
n.337+17C=
c.3472+17C= (n.3472+17C=)
c.22+17C= (n.22+17C=)
c.3373+17C= (n.3373+17C=)
c.3469+17C= (n.3469+17C=)
c.3319+17C= (n.3319+17C=)
5g.128338916G>TCA3395234FBN2n.256+17C>A
n.337+17C>A
c.3472+17C>A (n.3472+17C>A)
c.22+17C>A (n.22+17C>A)
c.3373+17C>A (n.3373+17C>A)
c.3469+17C>A (n.3469+17C>A)
c.3319+17C>A (n.3319+17C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128338917A=CA1581271154FBN2n.256+16T=
n.337+16T=
c.3472+16T= (n.3472+16T=)
c.22+16T= (n.22+16T=)
c.3373+16T= (n.3373+16T=)
c.3469+16T= (n.3469+16T=)
c.3319+16T= (n.3319+16T=)
5g.128338917A>GCA2675117679FBN2n.256+16T>C
n.337+16T>C
c.3472+16T>C (n.3472+16T>C)
c.22+16T>C (n.22+16T>C)
c.3373+16T>C (n.3373+16T>C)
c.3469+16T>C (n.3469+16T>C)
c.3319+16T>C (n.3319+16T>C)
 gnomAD v4
5g.128338917A>TCA1581271155FBN2n.256+16T>A
n.337+16T>A
c.3472+16T>A (n.3472+16T>A)
c.22+16T>A (n.22+16T>A)
c.3373+16T>A (n.3373+16T>A)
c.3469+16T>A (n.3469+16T>A)
c.3319+16T>A (n.3319+16T>A)
 dbSNP
5g.128338918G>ACA2675117680FBN2n.256+15C>T
n.337+15C>T
c.3472+15C>T (n.3472+15C>T)
c.22+15C>T (n.22+15C>T)
c.3373+15C>T (n.3373+15C>T)
c.3469+15C>T (n.3469+15C>T)
c.3319+15C>T (n.3319+15C>T)
 gnomAD v4
5g.128338921C=CA1581271156FBN2n.256+12G=
n.337+12G=
c.3472+12G= (n.3472+12G=)
c.22+12G= (n.22+12G=)
c.3373+12G= (n.3373+12G=)
c.3469+12G= (n.3469+12G=)
c.3319+12G= (n.3319+12G=)
5g.128338921C>TCA1581271157FBN2n.256+12G>A
n.337+12G>A
c.3472+12G>A (n.3472+12G>A)
c.22+12G>A (n.22+12G>A)
c.3373+12G>A (n.3373+12G>A)
c.3469+12G>A (n.3469+12G>A)
c.3319+12G>A (n.3319+12G>A)
 dbSNP
5g.128338922A>CCA2578444175FBN2n.256+11T>G
n.337+11T>G
c.3472+11T>G (n.3472+11T>G)
c.22+11T>G (n.22+11T>G)
c.3373+11T>G (n.3373+11T>G)
c.3469+11T>G (n.3469+11T>G)
c.3319+11T>G (n.3319+11T>G)
 gnomAD v4
5g.128338923C=CA1581271158FBN2n.256+10G=
n.337+10G=
c.3472+10G= (n.3472+10G=)
c.22+10G= (n.22+10G=)
c.3373+10G= (n.3373+10G=)
c.3469+10G= (n.3469+10G=)
c.3319+10G= (n.3319+10G=)
5g.128338923C>GCA2578444176FBN2n.256+10G>C
n.337+10G>C
c.3472+10G>C (n.3472+10G>C)
c.22+10G>C (n.22+10G>C)
c.3373+10G>C (n.3373+10G>C)
c.3469+10G>C (n.3469+10G>C)
c.3319+10G>C (n.3319+10G>C)
 gnomAD v4
5g.128338923C>TCA3395235FBN2n.256+10G>A
n.337+10G>A
c.3472+10G>A (n.3472+10G>A)
c.22+10G>A (n.22+10G>A)
c.3373+10G>A (n.3373+10G>A)
c.3469+10G>A (n.3469+10G>A)
c.3319+10G>A (n.3319+10G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128338924G>ACA127015481FBN2n.256+9C>T
n.337+9C>T
c.3472+9C>T (n.3472+9C>T)
c.22+9C>T (n.22+9C>T)
c.3373+9C>T (n.3373+9C>T)
c.3469+9C>T (n.3469+9C>T)
c.3319+9C>T (n.3319+9C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128338924G>CCA562716055FBN2n.256+9C>G
n.337+9C>G
c.3472+9C>G (n.3472+9C>G)
c.22+9C>G (n.22+9C>G)
c.3373+9C>G (n.3373+9C>G)
c.3469+9C>G (n.3469+9C>G)
c.3319+9C>G (n.3319+9C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128338924G=CA1581271159FBN2n.256+9C=
n.337+9C=
c.3472+9C= (n.3472+9C=)
c.22+9C= (n.22+9C=)
c.3373+9C= (n.3373+9C=)
c.3469+9C= (n.3469+9C=)
c.3319+9C= (n.3319+9C=)
5g.128338927G>ACA2578444177FBN2n.256+6C>T
n.337+6C>T
c.3472+6C>T (n.3472+6C>T)
c.22+6C>T (n.22+6C>T)
c.3373+6C>T (n.3373+6C>T)
c.3469+6C>T (n.3469+6C>T)
c.3319+6C>T (n.3319+6C>T)
5g.128338928C>TCA2578444178FBN2n.256+5G>A
n.337+5G>A
c.3472+5G>A (n.3472+5G>A)
c.22+5G>A (n.22+5G>A)
c.3373+5G>A (n.3373+5G>A)
c.3469+5G>A (n.3469+5G>A)
c.3319+5G>A (n.3319+5G>A)
5g.128338930T>CCA1581271161FBN2n.256+3A>G
n.337+3A>G
c.3472+3A>G (n.3472+3A>G)
c.22+3A>G (n.22+3A>G)
c.3373+3A>G (n.3373+3A>G)
c.3469+3A>G (n.3469+3A>G)
c.3319+3A>G (n.3319+3A>G)
 ClinVar dbSNP gnomAD v4
5g.128338930T=CA1581271160FBN2n.256+3A=
n.337+3A=
c.3472+3A= (n.3472+3A=)
c.22+3A= (n.22+3A=)
c.3373+3A= (n.3373+3A=)
c.3469+3A= (n.3469+3A=)
c.3319+3A= (n.3319+3A=)
5g.128338931A>CCA360759706FBN2n.256+2T>G
n.337+2T>G
c.3472+2T>G (n.3472+2T>G)
c.22+2T>G (n.22+2T>G)
c.3373+2T>G (n.3373+2T>G)
c.3469+2T>G (n.3469+2T>G)
c.3319+2T>G (n.3319+2T>G)
5g.128338931A>GCA360759709FBN2n.256+2T>C
n.337+2T>C
c.3472+2T>C (n.3472+2T>C)
c.22+2T>C (n.22+2T>C)
c.3373+2T>C (n.3373+2T>C)
c.3469+2T>C (n.3469+2T>C)
c.3319+2T>C (n.3319+2T>C)
 ClinVar dbSNP
5g.128338931A>TCA360759711FBN2n.256+2T>A
n.337+2T>A
c.3472+2T>A (n.3472+2T>A)
c.22+2T>A (n.22+2T>A)
c.3373+2T>A (n.3373+2T>A)
c.3469+2T>A (n.3469+2T>A)
c.3319+2T>A (n.3319+2T>A)
5g.128338932C>ACA360759713FBN2n.256+1G>T
n.337+1G>T
c.3472+1G>T (n.3472+1G>T)
c.22+1G>T (n.22+1G>T)
c.3373+1G>T (n.3373+1G>T)
c.3469+1G>T (n.3469+1G>T)
c.3319+1G>T (n.3319+1G>T)
5g.128338932C=CA1581271162FBN2n.256+1G=
n.337+1G=
c.3472+1G= (n.3472+1G=)
c.22+1G= (n.22+1G=)
c.3373+1G= (n.3373+1G=)
c.3469+1G= (n.3469+1G=)
c.3319+1G= (n.3319+1G=)
5g.128338932C>GCA360759715FBN2n.256+1G>C
n.337+1G>C
c.3472+1G>C (n.3472+1G>C)
c.22+1G>C (n.22+1G>C)
c.3373+1G>C (n.3373+1G>C)
c.3469+1G>C (n.3469+1G>C)
c.3319+1G>C (n.3319+1G>C)
5g.128338932C>TCA360759716FBN2n.256+1G>A
n.337+1G>A
c.3472+1G>A (n.3472+1G>A)
c.22+1G>A (n.22+1G>A)
c.3373+1G>A (n.3373+1G>A)
c.3469+1G>A (n.3469+1G>A)
c.3319+1G>A (n.3319+1G>A)
 ClinVar dbSNP
5g.128338933C>ACA360759722FBN2n.256G>T
n.337G>T
c.3472G>T (p.Asp1158Tyr)
c.22G>T (p.Asp8Tyr)
c.3373G>T (p.Asp1125Tyr)
c.3469G>T (p.Asp1157Tyr)
c.3319G>T (p.Asp1107Tyr)
5g.128338933C>GCA360759718FBN2n.256G>C
n.337G>C
c.3472G>C (p.Asp1158His)
c.22G>C (p.Asp8His)
c.3373G>C (p.Asp1125His)
c.3469G>C (p.Asp1157His)
c.3319G>C (p.Asp1107His)
5g.128338933C>TCA360759720FBN2n.256G>A
n.337G>A
c.3472G>A (p.Asp1158Asn)
c.22G>A (p.Asp8Asn)
c.3373G>A (p.Asp1125Asn)
c.3469G>A (p.Asp1157Asn)
c.3319G>A (p.Asp1107Asn)
5g.128338934C>ACA360759724FBN2n.255G>T
n.336G>T
c.3471G>T (p.Met1157Ile)
c.21G>T (p.Met7Ile)
c.3372G>T (p.Met1124Ile)
c.3468G>T (p.Met1156Ile)
c.3318G>T (p.Met1106Ile)
5g.128338934C>GCA360759726FBN2n.255G>C
n.336G>C
c.3471G>C (p.Met1157Ile)
c.21G>C (p.Met7Ile)
c.3372G>C (p.Met1124Ile)
c.3468G>C (p.Met1156Ile)
c.3318G>C (p.Met1106Ile)
5g.128338934C>TCA360759728FBN2n.255G>A
n.336G>A
c.3471G>A (p.Met1157Ile)
c.21G>A (p.Met7Ile)
c.3372G>A (p.Met1124Ile)
c.3468G>A (p.Met1156Ile)
c.3318G>A (p.Met1106Ile)
5g.128338935A>CCA360759731FBN2n.254T>G
n.335T>G
c.3470T>G (p.Met1157Arg)
c.20T>G (p.Met7Arg)
c.3371T>G (p.Met1124Arg)
c.3467T>G (p.Met1156Arg)
c.3317T>G (p.Met1106Arg)
5g.128338935A>GCA360759733FBN2n.254T>C
n.335T>C
c.3470T>C (p.Met1157Thr)
c.20T>C (p.Met7Thr)
c.3371T>C (p.Met1124Thr)
c.3467T>C (p.Met1156Thr)
c.3317T>C (p.Met1106Thr)
5g.128338935A>TCA360759735FBN2n.254T>A
n.335T>A
c.3470T>A (p.Met1157Lys)
c.20T>A (p.Met7Lys)
c.3371T>A (p.Met1124Lys)
c.3467T>A (p.Met1156Lys)
c.3317T>A (p.Met1106Lys)
5g.128338936T>ACA360759741FBN2n.253A>T
n.334A>T
c.3469A>T (p.Met1157Leu)
c.19A>T (p.Met7Leu)
c.3370A>T (p.Met1124Leu)
c.3466A>T (p.Met1156Leu)
c.3316A>T (p.Met1106Leu)
5g.128338936T>CCA10577322FBN2n.253A>G
n.334A>G
c.3469A>G (p.Met1157Val)
c.19A>G (p.Met7Val)
c.3370A>G (p.Met1124Val)
c.3466A>G (p.Met1156Val)
c.3316A>G (p.Met1106Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.128338936T>GCA360759739FBN2n.253A>C
n.334A>C
c.3469A>C (p.Met1157Leu)
c.19A>C (p.Met7Leu)
c.3370A>C (p.Met1124Leu)
c.3466A>C (p.Met1156Leu)
c.3316A>C (p.Met1106Leu)
5g.128338936T=CA1581271163FBN2n.253A=
n.334A=
c.3469A= (p.Met1157=)
c.19A= (p.Met7=)
c.3370A= (p.Met1124=)
c.3466A= (p.Met1156=)
c.3316A= (p.Met1106=)
5g.128338937G>ACA446310809FBN2n.252C>T
n.333C>T
c.3468C>T (p.Cys1156=)
c.18C>T (p.Cys6=)
c.3369C>T (p.Cys1123=)
c.3465C>T (p.Cys1155=)
c.3315C>T (p.Cys1105=)
5g.128338937G>CCA360759743FBN2n.252C>G
n.333C>G
c.3468C>G (p.Cys1156Trp)
c.18C>G (p.Cys6Trp)
c.3369C>G (p.Cys1123Trp)
c.3465C>G (p.Cys1155Trp)
c.3315C>G (p.Cys1105Trp)
5g.128338937G>TCA360759744FBN2n.252C>A
n.333C>A
c.3468C>A (p.Cys1156Ter)
c.18C>A (p.Cys6Ter)
c.3369C>A (p.Cys1123Ter)
c.3465C>A (p.Cys1155Ter)
c.3315C>A (p.Cys1105Ter)
5g.128338938C>ACA360759746FBN2n.251G>T
n.332G>T
c.3467G>T (p.Cys1156Phe)
c.17G>T (p.Cys6Phe)
c.3368G>T (p.Cys1123Phe)
c.3464G>T (p.Cys1155Phe)
c.3314G>T (p.Cys1105Phe)
 ClinVar dbSNP gnomAD v2
5g.128338938C=CA1581271164FBN2n.251G=
n.332G=
c.3467G= (p.Cys1156=)
c.17G= (p.Cys6=)
c.3368G= (p.Cys1123=)
c.3464G= (p.Cys1155=)
c.3314G= (p.Cys1105=)
5g.128338938C>GCA360759747FBN2n.251G>C
n.332G>C
c.3467G>C (p.Cys1156Ser)
c.17G>C (p.Cys6Ser)
c.3368G>C (p.Cys1123Ser)
c.3464G>C (p.Cys1155Ser)
c.3314G>C (p.Cys1105Ser)
5g.128338938C>TCA360759749FBN2n.251G>A
n.332G>A
c.3467G>A (p.Cys1156Tyr)
c.17G>A (p.Cys6Tyr)
c.3368G>A (p.Cys1123Tyr)
c.3464G>A (p.Cys1155Tyr)
c.3314G>A (p.Cys1105Tyr)
5g.128338939A=CA1581271165FBN2n.250T=
n.331T=
c.3466T= (p.Cys1156=)
c.16T= (p.Cys6=)
c.3367T= (p.Cys1123=)
c.3463T= (p.Cys1155=)
c.3313T= (p.Cys1105=)
5g.128338939A>CCA360759752FBN2n.250T>G
n.331T>G
c.3466T>G (p.Cys1156Gly)
c.16T>G (p.Cys6Gly)
c.3367T>G (p.Cys1123Gly)
c.3463T>G (p.Cys1155Gly)
c.3313T>G (p.Cys1105Gly)
5g.128338939A>GCA360759755FBN2n.250T>C
n.331T>C
c.3466T>C (p.Cys1156Arg)
c.16T>C (p.Cys6Arg)
c.3367T>C (p.Cys1123Arg)
c.3463T>C (p.Cys1155Arg)
c.3313T>C (p.Cys1105Arg)
 ClinVar dbSNP
5g.128338939A>TCA360759753FBN2n.250T>A
n.331T>A
c.3466T>A (p.Cys1156Ser)
c.16T>A (p.Cys6Ser)
c.3367T>A (p.Cys1123Ser)
c.3463T>A (p.Cys1155Ser)
c.3313T>A (p.Cys1105Ser)
5g.128338940G>ACA446310810FBN2n.249C>T
n.330C>T
c.3465C>T (p.Asn1155=)
c.15C>T (p.Asn5=)
c.3366C>T (p.Asn1122=)
c.3462C>T (p.Asn1154=)
c.3312C>T (p.Asn1104=)
5g.128338940G>CCA360759757FBN2n.249C>G
n.330C>G
c.3465C>G (p.Asn1155Lys)
c.15C>G (p.Asn5Lys)
c.3366C>G (p.Asn1122Lys)
c.3462C>G (p.Asn1154Lys)
c.3312C>G (p.Asn1104Lys)
5g.128338940G>TCA360759759FBN2n.249C>A
n.330C>A
c.3465C>A (p.Asn1155Lys)
c.15C>A (p.Asn5Lys)
c.3366C>A (p.Asn1122Lys)
c.3462C>A (p.Asn1154Lys)
c.3312C>A (p.Asn1104Lys)
5g.128338940_128338943delinsGTTCCA1581271166FBN2n.246_249delinsGAAC
n.327_330delinsGAAC
c.3462_3465delinsGAAC (p.Lys1154=)
c.12_15delinsGAAC (p.Lys4=)
c.3363_3366delinsGAAC (p.Lys1121=)
c.3459_3462delinsGAAC (p.Lys1153=)
c.3309_3312delinsGAAC (p.Lys1103=)
5g.128338941T>ACA360759761FBN2n.248A>T
n.329A>T
c.3464A>T (p.Asn1155Ile)
c.14A>T (p.Asn5Ile)
c.3365A>T (p.Asn1122Ile)
c.3461A>T (p.Asn1154Ile)
c.3311A>T (p.Asn1104Ile)
5g.128338941T>CCA3395236FBN2n.248A>G
n.329A>G
c.3464A>G (p.Asn1155Ser)
c.14A>G (p.Asn5Ser)
c.3365A>G (p.Asn1122Ser)
c.3461A>G (p.Asn1154Ser)
c.3311A>G (p.Asn1104Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128338941T>GCA360759763FBN2n.248A>C
n.329A>C
c.3464A>C (p.Asn1155Thr)
c.14A>C (p.Asn5Thr)
c.3365A>C (p.Asn1122Thr)
c.3461A>C (p.Asn1154Thr)
c.3311A>C (p.Asn1104Thr)
5g.128338941T=CA1581271167FBN2n.248A=
n.329A=
c.3464A= (p.Asn1155=)
c.14A= (p.Asn5=)
c.3365A= (p.Asn1122=)
c.3461A= (p.Asn1154=)
c.3311A= (p.Asn1104=)
5g.128338944_128338946delCA658822466FBN2n.246_248del
n.327_329del
c.3462_3464del (p.Lys1154del)
c.12_14del (p.Lys4del)
c.3363_3365del (p.Lys1121del)
c.3459_3461del (p.Lys1153del)
c.3309_3311del (p.Lys1103del)
 ClinVar dbSNP
5g.128338942T>ACA360759765FBN2n.247A>T
n.328A>T
c.3463A>T (p.Asn1155Tyr)
c.13A>T (p.Asn5Tyr)
c.3364A>T (p.Asn1122Tyr)
c.3460A>T (p.Asn1154Tyr)
c.3310A>T (p.Asn1104Tyr)
5g.128338942T>CCA360759767FBN2n.247A>G
n.328A>G
c.3463A>G (p.Asn1155Asp)
c.13A>G (p.Asn5Asp)
c.3364A>G (p.Asn1122Asp)
c.3460A>G (p.Asn1154Asp)
c.3310A>G (p.Asn1104Asp)
5g.128338942T>GCA360759769FBN2n.247A>C
n.328A>C
c.3463A>C (p.Asn1155His)
c.13A>C (p.Asn5His)
c.3364A>C (p.Asn1122His)
c.3460A>C (p.Asn1154His)
c.3310A>C (p.Asn1104His)
5g.128338943C>ACA360759771FBN2n.246G>T
n.327G>T
c.3462G>T (p.Lys1154Asn)
c.12G>T (p.Lys4Asn)
c.3363G>T (p.Lys1121Asn)
c.3459G>T (p.Lys1153Asn)
c.3309G>T (p.Lys1103Asn)
5g.128338943C=CA1581271168FBN2n.246G=
n.327G=
c.3462G= (p.Lys1154=)
c.12G= (p.Lys4=)
c.3363G= (p.Lys1121=)
c.3459G= (p.Lys1153=)
c.3309G= (p.Lys1103=)
5g.128338943C>GCA360759773FBN2n.246G>C
n.327G>C
c.3462G>C (p.Lys1154Asn)
c.12G>C (p.Lys4Asn)
c.3363G>C (p.Lys1121Asn)
c.3459G>C (p.Lys1153Asn)
c.3309G>C (p.Lys1103Asn)
5g.128338943C>TCA446310811FBN2n.246G>A
n.327G>A
c.3462G>A (p.Lys1154=)
c.12G>A (p.Lys4=)
c.3363G>A (p.Lys1121=)
c.3459G>A (p.Lys1153=)
c.3309G>A (p.Lys1103=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128338944T>ACA360759775FBN2n.245A>T
n.326A>T
c.3461A>T (p.Lys1154Met)
c.11A>T (p.Lys4Met)
c.3362A>T (p.Lys1121Met)
c.3458A>T (p.Lys1153Met)
c.3308A>T (p.Lys1103Met)
5g.128338944T>CCA360759776FBN2n.245A>G
n.326A>G
c.3461A>G (p.Lys1154Arg)
c.11A>G (p.Lys4Arg)
c.3362A>G (p.Lys1121Arg)
c.3458A>G (p.Lys1153Arg)
c.3308A>G (p.Lys1103Arg)
5g.128338944T>GCA360759777FBN2n.245A>C
n.326A>C
c.3461A>C (p.Lys1154Thr)
c.11A>C (p.Lys4Thr)
c.3362A>C (p.Lys1121Thr)
c.3458A>C (p.Lys1153Thr)
c.3308A>C (p.Lys1103Thr)
5g.128338945T>ACA360759784FBN2n.244A>T
n.325A>T
c.3460A>T (p.Lys1154Ter)
c.10A>T (p.Lys4Ter)
c.3361A>T (p.Lys1121Ter)
c.3457A>T (p.Lys1153Ter)
c.3307A>T (p.Lys1103Ter)
5g.128338945T>CCA360759780FBN2n.244A>G
n.325A>G
c.3460A>G (p.Lys1154Glu)
c.10A>G (p.Lys4Glu)
c.3361A>G (p.Lys1121Glu)
c.3457A>G (p.Lys1153Glu)
c.3307A>G (p.Lys1103Glu)
5g.128338945T>GCA360759782FBN2n.244A>C
n.325A>C
c.3460A>C (p.Lys1154Gln)
c.10A>C (p.Lys4Gln)
c.3361A>C (p.Lys1121Gln)
c.3457A>C (p.Lys1153Gln)
c.3307A>C (p.Lys1103Gln)
5g.128338946C>ACA360759787FBN2n.243G>T
n.324G>T
c.3459G>T (p.Met1153Ile)
c.9G>T (p.Met3Ile)
c.3360G>T (p.Met1120Ile)
c.3456G>T (p.Met1152Ile)
c.3306G>T (p.Met1102Ile)
5g.128338946C>GCA360759789FBN2n.243G>C
n.324G>C
c.3459G>C (p.Met1153Ile)
c.9G>C (p.Met3Ile)
c.3360G>C (p.Met1120Ile)
c.3456G>C (p.Met1152Ile)
c.3306G>C (p.Met1102Ile)
5g.128338946C>TCA360759791FBN2n.243G>A
n.324G>A
c.3459G>A (p.Met1153Ile)
c.9G>A (p.Met3Ile)
c.3360G>A (p.Met1120Ile)
c.3456G>A (p.Met1152Ile)
c.3306G>A (p.Met1102Ile)
 COSMIC COSMIC
5g.128338947A>CCA360759793FBN2n.242T>G
n.323T>G
c.3458T>G (p.Met1153Arg)
c.8T>G (p.Met3Arg)
c.3359T>G (p.Met1120Arg)
c.3455T>G (p.Met1152Arg)
c.3305T>G (p.Met1102Arg)
5g.128338947A>GCA360759796FBN2n.242T>C
n.323T>C
c.3458T>C (p.Met1153Thr)
c.8T>C (p.Met3Thr)
c.3359T>C (p.Met1120Thr)
c.3455T>C (p.Met1152Thr)
c.3305T>C (p.Met1102Thr)
5g.128338947A>TCA360759797FBN2n.242T>A
n.323T>A
c.3458T>A (p.Met1153Lys)
c.8T>A (p.Met3Lys)
c.3359T>A (p.Met1120Lys)
c.3455T>A (p.Met1152Lys)
c.3305T>A (p.Met1102Lys)
5g.128338948T>ACA360759799FBN2n.241A>T
n.322A>T
c.3457A>T (p.Met1153Leu)
c.7A>T (p.Met3Leu)
c.3358A>T (p.Met1120Leu)
c.3454A>T (p.Met1152Leu)
c.3304A>T (p.Met1102Leu)
5g.128338948T>CCA360759801FBN2n.241A>G
n.322A>G
c.3457A>G (p.Met1153Val)
c.7A>G (p.Met3Val)
c.3358A>G (p.Met1120Val)
c.3454A>G (p.Met1152Val)
c.3304A>G (p.Met1102Val)
5g.128338948T>GCA360759803FBN2n.241A>C
n.322A>C
c.3457A>C (p.Met1153Leu)
c.7A>C (p.Met3Leu)
c.3358A>C (p.Met1120Leu)
c.3454A>C (p.Met1152Leu)
c.3304A>C (p.Met1102Leu)
 gnomAD v4
5g.128338949C>ACA360759806FBN2n.240G>T
n.321G>T
c.3456G>T (p.Met1152Ile)
c.6G>T (p.Met2Ile)
c.3357G>T (p.Met1119Ile)
c.3453G>T (p.Met1151Ile)
c.3303G>T (p.Met1101Ile)
5g.128338949C=CA1581271169FBN2n.240G=
n.321G=
c.3456G= (p.Met1152=)
c.6G= (p.Met2=)
c.3357G= (p.Met1119=)
c.3453G= (p.Met1151=)
c.3303G= (p.Met1101=)
5g.128338949C>GCA360759808FBN2n.240G>C
n.321G>C
c.3456G>C (p.Met1152Ile)
c.6G>C (p.Met2Ile)
c.3357G>C (p.Met1119Ile)
c.3453G>C (p.Met1151Ile)
c.3303G>C (p.Met1101Ile)
 ClinVar dbSNP gnomAD v4
5g.128338949C>TCA325155FBN2n.240G>A
n.321G>A
c.3456G>A (p.Met1152Ile)
c.6G>A (p.Met2Ile)
c.3357G>A (p.Met1119Ile)
c.3453G>A (p.Met1151Ile)
c.3303G>A (p.Met1101Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.128338950A>CCA360759812FBN2n.239T>G
n.320T>G
c.3455T>G (p.Met1152Arg)
c.5T>G (p.Met2Arg)
c.3356T>G (p.Met1119Arg)
c.3452T>G (p.Met1151Arg)
c.3302T>G (p.Met1101Arg)
5g.128338950A>GCA360759815FBN2n.239T>C
n.320T>C
c.3455T>C (p.Met1152Thr)
c.5T>C (p.Met2Thr)
c.3356T>C (p.Met1119Thr)
c.3452T>C (p.Met1151Thr)
c.3302T>C (p.Met1101Thr)
 ClinVar gnomAD v4
5g.128338950A>TCA360759813FBN2n.239T>A
n.320T>A
c.3455T>A (p.Met1152Lys)
c.5T>A (p.Met2Lys)
c.3356T>A (p.Met1119Lys)
c.3452T>A (p.Met1151Lys)
c.3302T>A (p.Met1101Lys)
5g.128338951T>ACA360759818FBN2n.238A>T
n.319A>T
c.3454A>T (p.Met1152Leu)
c.4A>T (p.Met2Leu)
c.3355A>T (p.Met1119Leu)
c.3451A>T (p.Met1151Leu)
c.3301A>T (p.Met1101Leu)
 gnomAD v4
5g.128338951T>CCA360759821FBN2n.238A>G
n.319A>G
c.3454A>G (p.Met1152Val)
c.4A>G (p.Met2Val)
c.3355A>G (p.Met1119Val)
c.3451A>G (p.Met1151Val)
c.3301A>G (p.Met1101Val)
 dbSNP
5g.128338951T>GCA360759819FBN2n.238A>C
n.319A>C
c.3454A>C (p.Met1152Leu)
c.4A>C (p.Met2Leu)
c.3355A>C (p.Met1119Leu)
c.3451A>C (p.Met1151Leu)
c.3301A>C (p.Met1101Leu)
5g.128338951T=CA1581271170FBN2n.238A=
n.319A=
c.3454A= (p.Met1152=)
c.4A= (p.Met2=)
c.3355A= (p.Met1119=)
c.3451A= (p.Met1151=)
c.3301A= (p.Met1101=)
5g.128338952C>ACA360759823FBN2n.237G>T
n.318G>T
c.3453G>T (p.Met1151Ile)
c.3G>T (p.Met1Ile)
c.3354G>T (p.Met1118Ile)
c.3450G>T (p.Met1150Ile)
c.3300G>T (p.Met1100Ile)
5g.128338952C>GCA360759825FBN2n.237G>C
n.318G>C
c.3453G>C (p.Met1151Ile)
c.3G>C (p.Met1Ile)
c.3354G>C (p.Met1118Ile)
c.3450G>C (p.Met1150Ile)
c.3300G>C (p.Met1100Ile)
5g.128338952C>TCA360759827FBN2n.237G>A
n.318G>A
c.3453G>A (p.Met1151Ile)
c.3G>A (p.Met1Ile)
c.3354G>A (p.Met1118Ile)
c.3450G>A (p.Met1150Ile)
c.3300G>A (p.Met1100Ile)
5g.128338953A>CCA360759829FBN2n.236T>G
n.317T>G
c.3452T>G (p.Met1151Arg)
c.2T>G (p.Met1Arg)
c.3353T>G (p.Met1118Arg)
c.3449T>G (p.Met1150Arg)
c.3299T>G (p.Met1100Arg)
5g.128338953A>GCA360759831FBN2n.236T>C
n.317T>C
c.3452T>C (p.Met1151Thr)
c.2T>C (p.Met1Thr)
c.3353T>C (p.Met1118Thr)
c.3449T>C (p.Met1150Thr)
c.3299T>C (p.Met1100Thr)
 ClinVar gnomAD v4
5g.128338953A>TCA360759833FBN2n.236T>A
n.317T>A
c.3452T>A (p.Met1151Lys)
c.2T>A (p.Met1Lys)
c.3353T>A (p.Met1118Lys)
c.3449T>A (p.Met1150Lys)
c.3299T>A (p.Met1100Lys)
5g.128338954T>ACA360759835FBN2n.235A>T
n.316A>T
c.3451A>T (p.Met1151Leu)
c.1A>T (p.Met1Leu)
c.3352A>T (p.Met1118Leu)
c.3448A>T (p.Met1150Leu)
c.3298A>T (p.Met1100Leu)
5g.128338954T>CCA127015486FBN2n.235A>G
n.316A>G
c.3451A>G (p.Met1151Val)
c.1A>G (p.Met1Val)
c.3352A>G (p.Met1118Val)
c.3448A>G (p.Met1150Val)
c.3298A>G (p.Met1100Val)
 ClinVar dbSNP gnomAD v4
5g.128338954T>GCA360759836FBN2n.235A>C
n.316A>C
c.3451A>C (p.Met1151Leu)
c.1A>C (p.Met1Leu)
c.3352A>C (p.Met1118Leu)
c.3448A>C (p.Met1150Leu)
c.3298A>C (p.Met1100Leu)
5g.128338954T=CA1581271171FBN2n.235A=
n.316A=
c.3451A= (p.Met1151=)
c.1A= (p.Met1=)
c.3352A= (p.Met1118=)
c.3448A= (p.Met1150=)
c.3298A= (p.Met1100=)
5g.128338955G>ACA446310812FBN2n.234C>T
n.315C>T
c.3450C>T (p.Phe1150=)
c.-1C>T (n.-1C>T)
c.3351C>T (p.Phe1117=)
c.3447C>T (p.Phe1149=)
c.3297C>T (p.Phe1099=)
5g.128338955G>CCA360759838FBN2n.234C>G
n.315C>G
c.3450C>G (p.Phe1150Leu)
c.-1C>G (n.-1C>G)
c.3351C>G (p.Phe1117Leu)
c.3447C>G (p.Phe1149Leu)
c.3297C>G (p.Phe1099Leu)
5g.128338955G>TCA360759840FBN2n.234C>A
n.315C>A
c.3450C>A (p.Phe1150Leu)
c.-1C>A (n.-1C>A)
c.3351C>A (p.Phe1117Leu)
c.3447C>A (p.Phe1149Leu)
c.3297C>A (p.Phe1099Leu)
5g.128338956A>CCA360759844FBN2n.233T>G
n.314T>G
c.3449T>G (p.Phe1150Cys)
c.-2T>G (n.-2T>G)
c.3350T>G (p.Phe1117Cys)
c.3446T>G (p.Phe1149Cys)
c.3296T>G (p.Phe1099Cys)
5g.128338956A>GCA360759842FBN2n.233T>C
n.314T>C
c.3449T>C (p.Phe1150Ser)
c.-2T>C (n.-2T>C)
c.3350T>C (p.Phe1117Ser)
c.3446T>C (p.Phe1149Ser)
c.3296T>C (p.Phe1099Ser)
5g.128338956A>TCA360759843FBN2n.233T>A
n.314T>A
c.3449T>A (p.Phe1150Tyr)
c.-2T>A (n.-2T>A)
c.3350T>A (p.Phe1117Tyr)
c.3446T>A (p.Phe1149Tyr)
c.3296T>A (p.Phe1099Tyr)
5g.128338957A>CCA360759845FBN2n.232T>G
n.313T>G
c.3448T>G (p.Phe1150Val)
c.-3T>G (n.-3T>G)
c.3349T>G (p.Phe1117Val)
c.3445T>G (p.Phe1149Val)
c.3295T>G (p.Phe1099Val)
5g.128338957A>GCA360759847FBN2n.232T>C
n.313T>C
c.3448T>C (p.Phe1150Leu)
c.-3T>C (n.-3T>C)
c.3349T>C (p.Phe1117Leu)
c.3445T>C (p.Phe1149Leu)
c.3295T>C (p.Phe1099Leu)
 COSMIC
5g.128338957A>TCA360759848FBN2n.232T>A
n.313T>A
c.3448T>A (p.Phe1150Ile)
c.-3T>A (n.-3T>A)
c.3349T>A (p.Phe1117Ile)
c.3445T>A (p.Phe1149Ile)
c.3295T>A (p.Phe1099Ile)
 gnomAD v4
5g.128338958G>ACA446310815FBN2n.231C>T
n.312C>T
c.3447C>T (p.Gly1149=)
c.-4C>T (n.-4C>T)
c.3348C>T (p.Gly1116=)
c.3444C>T (p.Gly1148=)
c.3294C>T (p.Gly1098=)
 dbSNP gnomAD v2 gnomAD v4
5g.128338958G>CCA446310814FBN2n.231C>G
n.312C>G
c.3447C>G (p.Gly1149=)
c.-4C>G (n.-4C>G)
c.3348C>G (p.Gly1116=)
c.3444C>G (p.Gly1148=)
c.3294C>G (p.Gly1098=)
5g.128338958G=CA1581271172FBN2n.231C=
n.312C=
c.3447C= (p.Gly1149=)
c.-4C= (n.-4C=)
c.3348C= (p.Gly1116=)
c.3444C= (p.Gly1148=)
c.3294C= (p.Gly1098=)
5g.128338958G>TCA446310813FBN2n.231C>A
n.312C>A
c.3447C>A (p.Gly1149=)
c.-4C>A (n.-4C>A)
c.3348C>A (p.Gly1116=)
c.3444C>A (p.Gly1148=)
c.3294C>A (p.Gly1098=)
5g.128338959C>ACA360759851FBN2n.230G>T
n.311G>T
c.3446G>T (p.Gly1149Val)
c.-5G>T (n.-5G>T)
c.3347G>T (p.Gly1116Val)
c.3443G>T (p.Gly1148Val)
c.3293G>T (p.Gly1098Val)
5g.128338959C>GCA360759853FBN2n.230G>C
n.311G>C
c.3446G>C (p.Gly1149Ala)
c.-5G>C (n.-5G>C)
c.3347G>C (p.Gly1116Ala)
c.3443G>C (p.Gly1148Ala)
c.3293G>C (p.Gly1098Ala)
 ClinVar gnomAD v4
5g.128338959C>TCA360759855FBN2n.230G>A
n.311G>A
c.3446G>A (p.Gly1149Asp)
c.-5G>A (n.-5G>A)
c.3347G>A (p.Gly1116Asp)
c.3443G>A (p.Gly1148Asp)
c.3293G>A (p.Gly1098Asp)
5g.128338960C>ACA360759857FBN2n.229G>T
n.310G>T
c.3445G>T (p.Gly1149Cys)
c.-6G>T (n.-6G>T)
c.3346G>T (p.Gly1116Cys)
c.3442G>T (p.Gly1148Cys)
c.3292G>T (p.Gly1098Cys)
5g.128338960C=CA1581271173FBN2n.229G=
n.310G=
c.3445G= (p.Gly1149=)
c.-6G= (n.-6G=)
c.3346G= (p.Gly1116=)
c.3442G= (p.Gly1148=)
c.3292G= (p.Gly1098=)
5g.128338960C>GCA360759859FBN2n.229G>C
n.310G>C
c.3445G>C (p.Gly1149Arg)
c.-6G>C (n.-6G>C)
c.3346G>C (p.Gly1116Arg)
c.3442G>C (p.Gly1148Arg)
c.3292G>C (p.Gly1098Arg)
5g.128338960C>TCA3395237FBN2n.229G>A
n.310G>A
c.3445G>A (p.Gly1149Ser)
c.-6G>A (n.-6G>A)
c.3346G>A (p.Gly1116Ser)
c.3442G>A (p.Gly1148Ser)
c.3292G>A (p.Gly1098Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128338961A>CCA360759862FBN2n.228T>G
n.309T>G
c.3444T>G (p.Ser1148Arg)
c.-7T>G (n.-7T>G)
c.3345T>G (p.Ser1115Arg)
c.3441T>G (p.Ser1147Arg)
c.3291T>G (p.Ser1097Arg)
5g.128338961A>GCA446310816FBN2n.228T>C
n.309T>C
c.3444T>C (p.Ser1148=)
c.-7T>C (n.-7T>C)
c.3345T>C (p.Ser1115=)
c.3441T>C (p.Ser1147=)
c.3291T>C (p.Ser1097=)
 gnomAD v4
5g.128338961A>TCA360759864FBN2n.228T>A
n.309T>A
c.3444T>A (p.Ser1148Arg)
c.-7T>A (n.-7T>A)
c.3345T>A (p.Ser1115Arg)
c.3441T>A (p.Ser1147Arg)
c.3291T>A (p.Ser1097Arg)
5g.128338962C>ACA360759868FBN2n.227G>T
n.308G>T
c.3443G>T (p.Ser1148Ile)
c.-8G>T (n.-8G>T)
c.3344G>T (p.Ser1115Ile)
c.3440G>T (p.Ser1147Ile)
c.3290G>T (p.Ser1097Ile)
5g.128338962C=CA1581271174FBN2n.227G=
n.308G=
c.3443G= (p.Ser1148=)
c.-8G= (n.-8G=)
c.3344G= (p.Ser1115=)
c.3440G= (p.Ser1147=)
c.3290G= (p.Ser1097=)
5g.128338962C>GCA360759870FBN2n.227G>C
n.308G>C
c.3443G>C (p.Ser1148Thr)
c.-8G>C (n.-8G>C)
c.3344G>C (p.Ser1115Thr)
c.3440G>C (p.Ser1147Thr)
c.3290G>C (p.Ser1097Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128338962C>TCA360759866FBN2n.227G>A
n.308G>A
c.3443G>A (p.Ser1148Asn)
c.-8G>A (n.-8G>A)
c.3344G>A (p.Ser1115Asn)
c.3440G>A (p.Ser1147Asn)
c.3290G>A (p.Ser1097Asn)
 dbSNP gnomAD v2 gnomAD v4
5g.128338963T>ACA360759873FBN2n.226A>T
n.307A>T
c.3442A>T (p.Ser1148Cys)
c.-9A>T (n.-9A>T)
c.3343A>T (p.Ser1115Cys)
c.3439A>T (p.Ser1147Cys)
c.3289A>T (p.Ser1097Cys)
5g.128338963T>CCA322825FBN2n.226A>G
n.307A>G
c.3442A>G (p.Ser1148Gly)
c.-9A>G (n.-9A>G)
c.3343A>G (p.Ser1115Gly)
c.3439A>G (p.Ser1147Gly)
c.3289A>G (p.Ser1097Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128338963T>GCA360759874FBN2n.226A>C
n.307A>C
c.3442A>C (p.Ser1148Arg)
c.-9A>C (n.-9A>C)
c.3343A>C (p.Ser1115Arg)
c.3439A>C (p.Ser1147Arg)
c.3289A>C (p.Ser1097Arg)
5g.128338963T=CA1581271175FBN2n.226A=
n.307A=
c.3442A= (p.Ser1148=)
c.-9A= (n.-9A=)
c.3343A= (p.Ser1115=)
c.3439A= (p.Ser1147=)
c.3289A= (p.Ser1097=)
5g.128338964T>ACA360759877FBN2n.225A>T
n.306A>T
c.3441A>T (p.Glu1147Asp)
c.-10A>T (n.-10A>T)
c.3342A>T (p.Glu1114Asp)
c.3438A>T (p.Glu1146Asp)
c.3288A>T (p.Glu1096Asp)
5g.128338964T>CCA446310817FBN2n.225A>G
n.306A>G
c.3441A>G (p.Glu1147=)
c.-10A>G (n.-10A>G)
c.3342A>G (p.Glu1114=)
c.3438A>G (p.Glu1146=)
c.3288A>G (p.Glu1096=)
 gnomAD v4
5g.128338964T>GCA360759878FBN2n.225A>C
n.306A>C
c.3441A>C (p.Glu1147Asp)
c.-10A>C (n.-10A>C)
c.3342A>C (p.Glu1114Asp)
c.3438A>C (p.Glu1146Asp)
c.3288A>C (p.Glu1096Asp)
 ClinVar dbSNP gnomAD v4
5g.128338964T=CA1581271176FBN2n.225A=
n.306A=
c.3441A= (p.Glu1147=)
c.-10A= (n.-10A=)
c.3342A= (p.Glu1114=)
c.3438A= (p.Glu1146=)
c.3288A= (p.Glu1096=)
5g.128338965T>ACA360759880FBN2n.224A>T
n.305A>T
c.3440A>T (p.Glu1147Val)
c.-11A>T (n.-11A>T)
c.3341A>T (p.Glu1114Val)
c.3437A>T (p.Glu1146Val)
c.3287A>T (p.Glu1096Val)
5g.128338965T>CCA360759882FBN2n.224A>G
n.305A>G
c.3440A>G (p.Glu1147Gly)
c.-11A>G (n.-11A>G)
c.3341A>G (p.Glu1114Gly)
c.3437A>G (p.Glu1146Gly)
c.3287A>G (p.Glu1096Gly)
5g.128338965T>GCA360759884FBN2n.224A>C
n.305A>C
c.3440A>C (p.Glu1147Ala)
c.-11A>C (n.-11A>C)
c.3341A>C (p.Glu1114Ala)
c.3437A>C (p.Glu1146Ala)
c.3287A>C (p.Glu1096Ala)
5g.128338966C>ACA360759886FBN2n.223G>T
n.304G>T
c.3439G>T (p.Glu1147Ter)
c.-12G>T (n.-12G>T)
c.3340G>T (p.Glu1114Ter)
c.3436G>T (p.Glu1146Ter)
c.3286G>T (p.Glu1096Ter)
 gnomAD v4
5g.128338966C=CA1581271177FBN2n.223G=
n.304G=
c.3439G= (p.Glu1147=)
c.-12G= (n.-12G=)
c.3340G= (p.Glu1114=)
c.3436G= (p.Glu1146=)
c.3286G= (p.Glu1096=)
5g.128338966C>GCA360759887FBN2n.223G>C
n.304G>C
c.3439G>C (p.Glu1147Gln)
c.-12G>C (n.-12G>C)
c.3340G>C (p.Glu1114Gln)
c.3436G>C (p.Glu1146Gln)
c.3286G>C (p.Glu1096Gln)
 dbSNP gnomAD v3 gnomAD v4
5g.128338966C>TCA360759888FBN2n.223G>A
n.304G>A
c.3439G>A (p.Glu1147Lys)
c.-12G>A (n.-12G>A)
c.3340G>A (p.Glu1114Lys)
c.3436G>A (p.Glu1146Lys)
c.3286G>A (p.Glu1096Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.128338967A>CCA360759889FBN2n.222T>G
n.303T>G
c.3438T>G (p.Tyr1146Ter)
c.-13T>G (n.-13T>G)
c.3339T>G (p.Tyr1113Ter)
c.3435T>G (p.Tyr1145Ter)
c.3285T>G (p.Tyr1095Ter)
5g.128338967A>GCA446310818FBN2n.222T>C
n.303T>C
c.3438T>C (p.Tyr1146=)
c.-13T>C (n.-13T>C)
c.3339T>C (p.Tyr1113=)
c.3435T>C (p.Tyr1145=)
c.3285T>C (p.Tyr1095=)
 gnomAD v4
5g.128338967A>TCA360759890FBN2n.222T>A
n.303T>A
c.3438T>A (p.Tyr1146Ter)
c.-13T>A (n.-13T>A)
c.3339T>A (p.Tyr1113Ter)
c.3435T>A (p.Tyr1145Ter)
c.3285T>A (p.Tyr1095Ter)
5g.128338968T>ACA360759893FBN2n.221A>T
n.302A>T
c.3437A>T (p.Tyr1146Phe)
c.-14A>T (n.-14A>T)
c.3338A>T (p.Tyr1113Phe)
c.3434A>T (p.Tyr1145Phe)
c.3284A>T (p.Tyr1095Phe)
5g.128338968T>CCA360759892FBN2n.221A>G
n.302A>G
c.3437A>G (p.Tyr1146Cys)
c.-14A>G (n.-14A>G)
c.3338A>G (p.Tyr1113Cys)
c.3434A>G (p.Tyr1145Cys)
c.3284A>G (p.Tyr1095Cys)
 ClinVar dbSNP
5g.128338968T>GCA360759891FBN2n.221A>C
n.302A>C
c.3437A>C (p.Tyr1146Ser)
c.-14A>C (n.-14A>C)
c.3338A>C (p.Tyr1113Ser)
c.3434A>C (p.Tyr1145Ser)
c.3284A>C (p.Tyr1095Ser)
5g.128338968T=CA1581271178FBN2n.221A=
n.302A=
c.3437A= (p.Tyr1146=)
c.-14A= (n.-14A=)
c.3338A= (p.Tyr1113=)
c.3434A= (p.Tyr1145=)
c.3284A= (p.Tyr1095=)
5g.128338969A>CCA360759894FBN2n.220T>G
n.301T>G
c.3436T>G (p.Tyr1146Asp)
c.-15T>G (n.-15T>G)
c.3337T>G (p.Tyr1113Asp)
c.3433T>G (p.Tyr1145Asp)
c.3283T>G (p.Tyr1095Asp)
5g.128338969A>GCA360759895FBN2n.220T>C
n.301T>C
c.3436T>C (p.Tyr1146His)
c.-15T>C (n.-15T>C)
c.3337T>C (p.Tyr1113His)
c.3433T>C (p.Tyr1145His)
c.3283T>C (p.Tyr1095His)
5g.128338969A>TCA360759896FBN2n.220T>A
n.301T>A
c.3436T>A (p.Tyr1146Asn)
c.-15T>A (n.-15T>A)
c.3337T>A (p.Tyr1113Asn)
c.3433T>A (p.Tyr1145Asn)
c.3283T>A (p.Tyr1095Asn)
5g.128338970G>ACA446310819FBN2n.219C>T
n.300C>T
c.3435C>T (p.Gly1145=)
c.-16C>T (n.-16C>T)
c.3336C>T (p.Gly1112=)
c.3432C>T (p.Gly1144=)
c.3282C>T (p.Gly1094=)
 dbSNP
5g.128338970G>CCA446310820FBN2n.219C>G
n.300C>G
c.3435C>G (p.Gly1145=)
c.-16C>G (n.-16C>G)
c.3336C>G (p.Gly1112=)
c.3432C>G (p.Gly1144=)
c.3282C>G (p.Gly1094=)
5g.128338970G=CA1581271179FBN2n.219C=
n.300C=
c.3435C= (p.Gly1145=)
c.-16C= (n.-16C=)
c.3336C= (p.Gly1112=)
c.3432C= (p.Gly1144=)
c.3282C= (p.Gly1094=)
5g.128338970G>TCA446310821FBN2n.219C>A
n.300C>A
c.3435C>A (p.Gly1145=)
c.-16C>A (n.-16C>A)
c.3336C>A (p.Gly1112=)
c.3432C>A (p.Gly1144=)
c.3282C>A (p.Gly1094=)
5g.128338971C>ACA360759897FBN2n.218G>T
n.299G>T
c.3434G>T (p.Gly1145Val)
c.-17G>T (n.-17G>T)
c.3335G>T (p.Gly1112Val)
c.3431G>T (p.Gly1144Val)
c.3281G>T (p.Gly1094Val)
5g.128338971C>GCA360759898FBN2n.218G>C
n.299G>C
c.3434G>C (p.Gly1145Ala)
c.-17G>C (n.-17G>C)
c.3335G>C (p.Gly1112Ala)
c.3431G>C (p.Gly1144Ala)
c.3281G>C (p.Gly1094Ala)
 gnomAD v4
5g.128338971C>TCA360759899FBN2n.218G>A
n.299G>A
c.3434G>A (p.Gly1145Asp)
c.-17G>A (n.-17G>A)
c.3335G>A (p.Gly1112Asp)
c.3431G>A (p.Gly1144Asp)
c.3281G>A (p.Gly1094Asp)
5g.128338972C>ACA360759900FBN2n.217G>T
n.298G>T
c.3433G>T (p.Gly1145Cys)
c.-18G>T (n.-18G>T)
c.3334G>T (p.Gly1112Cys)
c.3430G>T (p.Gly1144Cys)
c.3280G>T (p.Gly1094Cys)
5g.128338972C=CA1581271180FBN2n.217G=
n.298G=
c.3433G= (p.Gly1145=)
c.-18G= (n.-18G=)
c.3334G= (p.Gly1112=)
c.3430G= (p.Gly1144=)
c.3280G= (p.Gly1094=)
5g.128338972C>GCA360759901FBN2n.217G>C
n.298G>C
c.3433G>C (p.Gly1145Arg)
c.-18G>C (n.-18G>C)
c.3334G>C (p.Gly1112Arg)
c.3430G>C (p.Gly1144Arg)
c.3280G>C (p.Gly1094Arg)
5g.128338972C>TCA3395238FBN2n.217G>A
n.298G>A
c.3433G>A (p.Gly1145Ser)
c.-18G>A (n.-18G>A)
c.3334G>A (p.Gly1112Ser)
c.3430G>A (p.Gly1144Ser)
c.3280G>A (p.Gly1094Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128338973T>ACA360759902FBN2n.216A>T
n.297A>T
c.3432A>T (p.Glu1144Asp)
c.-19A>T (n.-19A>T)
c.3333A>T (p.Glu1111Asp)
c.3429A>T (p.Glu1143Asp)
c.3279A>T (p.Glu1093Asp)
5g.128338973T>CCA3395239FBN2n.216A>G
n.297A>G
c.3432A>G (p.Glu1144=)
c.-19A>G (n.-19A>G)
c.3333A>G (p.Glu1111=)
c.3429A>G (p.Glu1143=)
c.3279A>G (p.Glu1093=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128338973T>GCA360759903FBN2n.216A>C
n.297A>C
c.3432A>C (p.Glu1144Asp)
c.-19A>C (n.-19A>C)
c.3333A>C (p.Glu1111Asp)
c.3429A>C (p.Glu1143Asp)
c.3279A>C (p.Glu1093Asp)
5g.128338973T=CA1581271181FBN2n.216A=
n.297A=
c.3432A= (p.Glu1144=)
c.-19A= (n.-19A=)
c.3333A= (p.Glu1111=)
c.3429A= (p.Glu1143=)
c.3279A= (p.Glu1093=)
5g.128338974T>ACA360759904FBN2n.215A>T
n.296A>T
c.3431A>T (p.Glu1144Val)
c.-20A>T (n.-20A>T)
c.3332A>T (p.Glu1111Val)
c.3428A>T (p.Glu1143Val)
c.3278A>T (p.Glu1093Val)
5g.128338974T>CCA360759906FBN2n.215A>G
n.296A>G
c.3431A>G (p.Glu1144Gly)
c.-20A>G (n.-20A>G)
c.3332A>G (p.Glu1111Gly)
c.3428A>G (p.Glu1143Gly)
c.3278A>G (p.Glu1093Gly)
5g.128338974T>GCA360759905FBN2n.215A>C
n.296A>C
c.3431A>C (p.Glu1144Ala)
c.-20A>C (n.-20A>C)
c.3332A>C (p.Glu1111Ala)
c.3428A>C (p.Glu1143Ala)
c.3278A>C (p.Glu1093Ala)
5g.128338975C>ACA360759907FBN2n.214G>T
n.295G>T
c.3430G>T (p.Glu1144Ter)
c.-21G>T (n.-21G>T)
c.3331G>T (p.Glu1111Ter)
c.3427G>T (p.Glu1143Ter)
c.3277G>T (p.Glu1093Ter)
 COSMIC COSMIC
5g.128338975C=CA1581271182FBN2n.214G=
n.295G=
c.3430G= (p.Glu1144=)
c.-21G= (n.-21G=)
c.3331G= (p.Glu1111=)
c.3427G= (p.Glu1143=)
c.3277G= (p.Glu1093=)
5g.128338975C>GCA3395240FBN2n.214G>C
n.295G>C
c.3430G>C (p.Glu1144Gln)
c.-21G>C (n.-21G>C)
c.3331G>C (p.Glu1111Gln)
c.3427G>C (p.Glu1143Gln)
c.3277G>C (p.Glu1093Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128338975C>TCA174026FBN2n.214G>A
n.295G>A
c.3430G>A (p.Glu1144Lys)
c.-21G>A (n.-21G>A)
c.3331G>A (p.Glu1111Lys)
c.3427G>A (p.Glu1143Lys)
c.3277G>A (p.Glu1093Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128338976G>ACA446310822FBN2n.213C>T
n.294C>T
c.3429C>T (p.Phe1143=)
c.-22C>T (n.-22C>T)
c.3330C>T (p.Phe1110=)
c.3426C>T (p.Phe1142=)
c.3276C>T (p.Phe1092=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128338976G>CCA360759908FBN2n.213C>G
n.294C>G
c.3429C>G (p.Phe1143Leu)
c.-22C>G (n.-22C>G)
c.3330C>G (p.Phe1110Leu)
c.3426C>G (p.Phe1142Leu)
c.3276C>G (p.Phe1092Leu)
5g.128338976G=CA1581271183FBN2n.213C=
n.294C=
c.3429C= (p.Phe1143=)
c.-22C= (n.-22C=)
c.3330C= (p.Phe1110=)
c.3426C= (p.Phe1142=)
c.3276C= (p.Phe1092=)
5g.128338976G>TCA10622580FBN2n.213C>A
n.294C>A
c.3429C>A (p.Phe1143Leu)
c.-22C>A (n.-22C>A)
c.3330C>A (p.Phe1110Leu)
c.3426C>A (p.Phe1142Leu)
c.3276C>A (p.Phe1092Leu)
 ClinVar dbSNP
5g.128338977A=CA1581271184FBN2n.212T=
n.293T=
c.3428T= (p.Phe1143=)
c.-23T= (n.-23T=)
c.3329T= (p.Phe1110=)
c.3425T= (p.Phe1142=)
c.3275T= (p.Phe1092=)
5g.128338977A>CCA360759909FBN2n.212T>G
n.293T>G
c.3428T>G (p.Phe1143Cys)
c.-23T>G (n.-23T>G)
c.3329T>G (p.Phe1110Cys)
c.3425T>G (p.Phe1142Cys)
c.3275T>G (p.Phe1092Cys)
5g.128338977A>GCA360759910FBN2n.212T>C
n.293T>C
c.3428T>C (p.Phe1143Ser)
c.-23T>C (n.-23T>C)
c.3329T>C (p.Phe1110Ser)
c.3425T>C (p.Phe1142Ser)
c.3275T>C (p.Phe1092Ser)
 ClinVar dbSNP
5g.128338977A>TCA360759911FBN2n.212T>A
n.293T>A
c.3428T>A (p.Phe1143Tyr)
c.-23T>A (n.-23T>A)
c.3329T>A (p.Phe1110Tyr)
c.3425T>A (p.Phe1142Tyr)
c.3275T>A (p.Phe1092Tyr)
5g.128338978A>CCA360759912FBN2n.211T>G
n.292T>G
c.3427T>G (p.Phe1143Val)
c.-24T>G (n.-24T>G)
c.3328T>G (p.Phe1110Val)
c.3424T>G (p.Phe1142Val)
c.3274T>G (p.Phe1092Val)
5g.128338978A>GCA360759913FBN2n.211T>C
n.292T>C
c.3427T>C (p.Phe1143Leu)
c.-24T>C (n.-24T>C)
c.3328T>C (p.Phe1110Leu)
c.3424T>C (p.Phe1142Leu)
c.3274T>C (p.Phe1092Leu)
 dbSNP COSMIC COSMIC
5g.128338978A>TCA360759914FBN2n.211T>A
n.292T>A
c.3427T>A (p.Phe1143Ile)
c.-24T>A (n.-24T>A)
c.3328T>A (p.Phe1110Ile)
c.3424T>A (p.Phe1142Ile)
c.3274T>A (p.Phe1092Ile)
 gnomAD v4
5g.128338979G>ACA446310823FBN2n.210C>T
n.291C>T
c.3426C>T (p.Cys1142=)
c.-25C>T (n.-25C>T)
c.3327C>T (p.Cys1109=)
c.3423C>T (p.Cys1141=)
c.3273C>T (p.Cys1091=)
5g.128338979G>CCA360759915FBN2n.210C>G
n.291C>G
c.3426C>G (p.Cys1142Trp)
c.-25C>G (n.-25C>G)
c.3327C>G (p.Cys1109Trp)
c.3423C>G (p.Cys1141Trp)
c.3273C>G (p.Cys1091Trp)
5g.128338979G>TCA360759916FBN2n.210C>A
n.291C>A
c.3426C>A (p.Cys1142Ter)
c.-25C>A (n.-25C>A)
c.3327C>A (p.Cys1109Ter)
c.3423C>A (p.Cys1141Ter)
c.3273C>A (p.Cys1091Ter)
5g.128338980C>ACA281517FBN2n.209G>T
n.290G>T
c.3425G>T (p.Cys1142Phe)
c.-26G>T (n.-26G>T)
c.3326G>T (p.Cys1109Phe)
c.3422G>T (p.Cys1141Phe)
c.3272G>T (p.Cys1091Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.128338980C=CA1581271185FBN2n.209G=
n.290G=
c.3425G= (p.Cys1142=)
c.-26G= (n.-26G=)
c.3326G= (p.Cys1109=)
c.3422G= (p.Cys1141=)
c.3272G= (p.Cys1091=)
5g.128338980C>GCA360759917FBN2n.209G>C
n.290G>C
c.3425G>C (p.Cys1142Ser)
c.-26G>C (n.-26G>C)
c.3326G>C (p.Cys1109Ser)
c.3422G>C (p.Cys1141Ser)
c.3272G>C (p.Cys1091Ser)
5g.128338980C>TCA360759918FBN2n.209G>A
n.290G>A
c.3425G>A (p.Cys1142Tyr)
c.-26G>A (n.-26G>A)
c.3326G>A (p.Cys1109Tyr)
c.3422G>A (p.Cys1141Tyr)
c.3272G>A (p.Cys1091Tyr)
 ClinVar
5g.128338981A=CA1581271186FBN2n.208T=
n.289T=
c.3424T= (p.Cys1142=)
c.-27T= (n.-27T=)
c.3325T= (p.Cys1109=)
c.3421T= (p.Cys1141=)
c.3271T= (p.Cys1091=)
5g.128338981A>CCA360759919FBN2n.208T>G
n.289T>G
c.3424T>G (p.Cys1142Gly)
c.-27T>G (n.-27T>G)
c.3325T>G (p.Cys1109Gly)
c.3421T>G (p.Cys1141Gly)
c.3271T>G (p.Cys1091Gly)
 ClinVar dbSNP
5g.128338981A>GCA360759920FBN2n.208T>C
n.289T>C
c.3424T>C (p.Cys1142Arg)
c.-27T>C (n.-27T>C)
c.3325T>C (p.Cys1109Arg)
c.3421T>C (p.Cys1141Arg)
c.3271T>C (p.Cys1091Arg)
 ClinVar dbSNP
5g.128338981A>TCA360759921FBN2n.208T>A
n.289T>A
c.3424T>A (p.Cys1142Ser)
c.-27T>A (n.-27T>A)
c.3325T>A (p.Cys1109Ser)
c.3421T>A (p.Cys1141Ser)
c.3271T>A (p.Cys1091Ser)

Number of alleles fetched