Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128300768C>TCA2675114081FBN2n.2950+49G>A
n.2869+49G>A
c.6166+49G>A (n.6166+49G>A)
c.6163+49G>A (n.6163+49G>A)
c.6013+49G>A (n.6013+49G>A)
 gnomAD v4
5g.128300770T>GCA2578395890FBN2n.2950+47A>C
n.2869+47A>C
c.6166+47A>C (n.6166+47A>C)
c.6163+47A>C (n.6163+47A>C)
c.6013+47A>C (n.6013+47A>C)
 gnomAD v4
5g.128300771A>GCA2675114082FBN2n.2950+46T>C
n.2869+46T>C
c.6166+46T>C (n.6166+46T>C)
c.6163+46T>C (n.6163+46T>C)
c.6013+46T>C (n.6013+46T>C)
 gnomAD v4
5g.128300772C>TCA2768335069FBN2n.2950+45G>A
n.2869+45G>A
c.6166+45G>A (n.6166+45G>A)
c.6163+45G>A (n.6163+45G>A)
c.6013+45G>A (n.6013+45G>A)
5g.128300773T>CCA1081357879FBN2n.2950+44A>G
n.2869+44A>G
c.6166+44A>G (n.6166+44A>G)
c.6163+44A>G (n.6163+44A>G)
c.6013+44A>G (n.6013+44A>G)
 dbSNP gnomAD v3 gnomAD v4
5g.128300773T=CA1581253423FBN2n.2950+44A=
n.2869+44A=
c.6166+44A= (n.6166+44A=)
c.6163+44A= (n.6163+44A=)
c.6013+44A= (n.6013+44A=)
5g.128300774A=CA1581253424FBN2n.2950+43T=
n.2869+43T=
c.6166+43T= (n.6166+43T=)
c.6163+43T= (n.6163+43T=)
c.6013+43T= (n.6013+43T=)
5g.128300774A>GCA3394484FBN2n.2950+43T>C
n.2869+43T>C
c.6166+43T>C (n.6166+43T>C)
c.6163+43T>C (n.6163+43T>C)
c.6013+43T>C (n.6013+43T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128300774A>TCA2675114083FBN2n.2950+43T>A
n.2869+43T>A
c.6166+43T>A (n.6166+43T>A)
c.6163+43T>A (n.6163+43T>A)
c.6013+43T>A (n.6013+43T>A)
 gnomAD v4
5g.128300775T>CCA2675114084FBN2n.2950+42A>G
n.2869+42A>G
c.6166+42A>G (n.6166+42A>G)
c.6163+42A>G (n.6163+42A>G)
c.6013+42A>G (n.6013+42A>G)
 gnomAD v4
5g.128300776delCA2578395891FBN2n.2950+41del
n.2869+41del
c.6166+41del (n.6166+41del)
c.6163+41del (n.6163+41del)
c.6013+41del (n.6013+41del)
5g.128300776A=CA1581253425FBN2n.2950+41T=
n.2869+41T=
c.6166+41T= (n.6166+41T=)
c.6163+41T= (n.6163+41T=)
c.6013+41T= (n.6013+41T=)
5g.128300776A>CCA1581253426FBN2n.2950+41T>G
n.2869+41T>G
c.6166+41T>G (n.6166+41T>G)
c.6163+41T>G (n.6163+41T>G)
c.6013+41T>G (n.6013+41T>G)
 dbSNP gnomAD v4
5g.128300777C=CA1581253427FBN2n.2950+40G=
n.2869+40G=
c.6166+40G= (n.6166+40G=)
c.6163+40G= (n.6163+40G=)
c.6013+40G= (n.6013+40G=)
5g.128300777C>TCA127043072FBN2n.2950+40G>A
n.2869+40G>A
c.6166+40G>A (n.6166+40G>A)
c.6163+40G>A (n.6163+40G>A)
c.6013+40G>A (n.6013+40G>A)
 dbSNP gnomAD v3 gnomAD v4
5g.128300778T>CCA562717108FBN2n.2950+39A>G
n.2869+39A>G
c.6166+39A>G (n.6166+39A>G)
c.6163+39A>G (n.6163+39A>G)
c.6013+39A>G (n.6013+39A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128300778T=CA1581253428FBN2n.2950+39A=
n.2869+39A=
c.6166+39A= (n.6166+39A=)
c.6163+39A= (n.6163+39A=)
c.6013+39A= (n.6013+39A=)
5g.128300779G>ACA3394485FBN2n.2950+38C>T
n.2869+38C>T
c.6166+38C>T (n.6166+38C>T)
c.6163+38C>T (n.6163+38C>T)
c.6013+38C>T (n.6013+38C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128300779G>CCA2675114085FBN2n.2950+38C>G
n.2869+38C>G
c.6166+38C>G (n.6166+38C>G)
c.6163+38C>G (n.6163+38C>G)
c.6013+38C>G (n.6013+38C>G)
 gnomAD v4
5g.128300779G=CA1581253429FBN2n.2950+38C=
n.2869+38C=
c.6166+38C= (n.6166+38C=)
c.6163+38C= (n.6163+38C=)
c.6013+38C= (n.6013+38C=)
5g.128300779_128300780insCACCA2768335070FBN2n.2950+37_2950+38insGTG
n.2869+37_2869+38insGTG
c.6166+37_6166+38insGTG (n.6166+37_6166+38insGTG)
c.6163+37_6163+38insGTG (n.6163+37_6163+38insGTG)
c.6013+37_6013+38insGTG (n.6013+37_6013+38insGTG)
5g.128300780A=CA1581253430FBN2n.2950+37T=
n.2869+37T=
c.6166+37T= (n.6166+37T=)
c.6163+37T= (n.6163+37T=)
c.6013+37T= (n.6013+37T=)
5g.128300781A>GCA2768335071FBN2n.2950+36T>C
n.2869+36T>C
c.6166+36T>C (n.6166+36T>C)
c.6163+36T>C (n.6163+36T>C)
c.6013+36T>C (n.6013+36T>C)
5g.128300785_128300787dupCA562717109FBN2n.2950+34_2950+36dup
n.2869+34_2869+36dup
c.6166+34_6166+36dup (n.6166+34_6166+36dup)
c.6163+34_6163+36dup (n.6163+34_6163+36dup)
c.6013+34_6013+36dup (n.6013+34_6013+36dup)
 dbSNP gnomAD v2 gnomAD v4
5g.128300782C=CA1581253431FBN2n.2950+35G=
n.2869+35G=
c.6166+35G= (n.6166+35G=)
c.6163+35G= (n.6163+35G=)
c.6013+35G= (n.6013+35G=)
5g.128300782C>GCA2675114086FBN2n.2950+35G>C
n.2869+35G>C
c.6166+35G>C (n.6166+35G>C)
c.6163+35G>C (n.6163+35G>C)
c.6013+35G>C (n.6013+35G>C)
 gnomAD v4
5g.128300782C>TCA562717110FBN2n.2950+35G>A
n.2869+35G>A
c.6166+35G>A (n.6166+35G>A)
c.6163+35G>A (n.6163+35G>A)
c.6013+35G>A (n.6013+35G>A)
 dbSNP gnomAD v2 gnomAD v4
5g.128300783T>CCA1581253433FBN2n.2950+34A>G
n.2869+34A>G
c.6166+34A>G (n.6166+34A>G)
c.6163+34A>G (n.6163+34A>G)
c.6013+34A>G (n.6013+34A>G)
 dbSNP
5g.128300783T=CA1581253432FBN2n.2950+34A=
n.2869+34A=
c.6166+34A= (n.6166+34A=)
c.6163+34A= (n.6163+34A=)
c.6013+34A= (n.6013+34A=)
5g.128300783_128300784insCCA2768335072FBN2n.2950+33_2950+34insG
n.2869+33_2869+34insG
c.6166+33_6166+34insG (n.6166+33_6166+34insG)
c.6163+33_6163+34insG (n.6163+33_6163+34insG)
c.6013+33_6013+34insG (n.6013+33_6013+34insG)
5g.128300784A>TCA2675114087FBN2n.2950+33T>A
n.2869+33T>A
c.6166+33T>A (n.6166+33T>A)
c.6163+33T>A (n.6163+33T>A)
c.6013+33T>A (n.6013+33T>A)
 gnomAD v4
5g.128300785C=CA1581253434FBN2n.2950+32G=
n.2869+32G=
c.6166+32G= (n.6166+32G=)
c.6163+32G= (n.6163+32G=)
c.6013+32G= (n.6013+32G=)
5g.128300785C>TCA127043097FBN2n.2950+32G>A
n.2869+32G>A
c.6166+32G>A (n.6166+32G>A)
c.6163+32G>A (n.6163+32G>A)
c.6013+32G>A (n.6013+32G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128300786T>ACA2768335073FBN2n.2950+31A>T
n.2869+31A>T
c.6166+31A>T (n.6166+31A>T)
c.6163+31A>T (n.6163+31A>T)
c.6013+31A>T (n.6013+31A>T)
5g.128300786T>CCA1081357887FBN2n.2950+31A>G
n.2869+31A>G
c.6166+31A>G (n.6166+31A>G)
c.6163+31A>G (n.6163+31A>G)
c.6013+31A>G (n.6013+31A>G)
5g.128300786dupCA1581253435FBN2n.2950+31dup
n.2869+31dup
c.6166+31dup (n.6166+31dup)
c.6163+31dup (n.6163+31dup)
c.6013+31dup (n.6013+31dup)
 dbSNP
5g.128300787A>CCA2675114088FBN2n.2950+30T>G
n.2869+30T>G
c.6166+30T>G (n.6166+30T>G)
c.6163+30T>G (n.6163+30T>G)
c.6013+30T>G (n.6013+30T>G)
 gnomAD v4
5g.128300787_128300788delinsAGCA1581253436FBN2n.2950+29_2950+30delinsCT
n.2869+29_2869+30delinsCT
c.6166+29_6166+30delinsCT (n.6166+29_6166+30delinsCT)
c.6163+29_6163+30delinsCT (n.6163+29_6163+30delinsCT)
c.6013+29_6013+30delinsCT (n.6013+29_6013+30delinsCT)
5g.128300788delCA3394486FBN2n.2950+29del
n.2869+29del
c.6166+29del (n.6166+29del)
c.6163+29del (n.6163+29del)
c.6013+29del (n.6013+29del)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128300788G>CCA2578395892FBN2n.2950+29C>G
n.2869+29C>G
c.6166+29C>G (n.6166+29C>G)
c.6163+29C>G (n.6163+29C>G)
c.6013+29C>G (n.6013+29C>G)
5g.128300789_128300792delCA2768335074FBN2n.2950+26_2950+29del
n.2869+26_2869+29del
c.6166+26_6166+29del (n.6166+26_6166+29del)
c.6163+26_6163+29del (n.6163+26_6163+29del)
c.6013+26_6013+29del (n.6013+26_6013+29del)
5g.128300789T>CCA3394487FBN2n.2950+28A>G
n.2869+28A>G
c.6166+28A>G (n.6166+28A>G)
c.6163+28A>G (n.6163+28A>G)
c.6013+28A>G (n.6013+28A>G)
 dbSNP ExAC gnomAD v2
5g.128300789T>GCA1581253438FBN2n.2950+28A>C
n.2869+28A>C
c.6166+28A>C (n.6166+28A>C)
c.6163+28A>C (n.6163+28A>C)
c.6013+28A>C (n.6013+28A>C)
 dbSNP gnomAD v4
5g.128300789T=CA1581253437FBN2n.2950+28A=
n.2869+28A=
c.6166+28A= (n.6166+28A=)
c.6163+28A= (n.6163+28A=)
c.6013+28A= (n.6013+28A=)
5g.128300789_128300790delinsTGCA1581253439FBN2n.2950+27_2950+28delinsCA
n.2869+27_2869+28delinsCA
c.6166+27_6166+28delinsCA (n.6166+27_6166+28delinsCA)
c.6163+27_6163+28delinsCA (n.6163+27_6163+28delinsCA)
c.6013+27_6013+28delinsCA (n.6013+27_6013+28delinsCA)
5g.128300790G>ACA2768335075FBN2n.2950+27C>T
n.2869+27C>T
c.6166+27C>T (n.6166+27C>T)
c.6163+27C>T (n.6163+27C>T)
c.6013+27C>T (n.6013+27C>T)
5g.128300790G>CCA2675114089FBN2n.2950+27C>G
n.2869+27C>G
c.6166+27C>G (n.6166+27C>G)
c.6163+27C>G (n.6163+27C>G)
c.6013+27C>G (n.6013+27C>G)
 gnomAD v4
5g.128300792delCA562717111FBN2n.2950+27del
n.2869+27del
c.6166+27del (n.6166+27del)
c.6163+27del (n.6163+27del)
c.6013+27del (n.6013+27del)
 dbSNP gnomAD v2 gnomAD v4
5g.128300792G>ACA3394488FBN2n.2950+25C>T
n.2869+25C>T
c.6166+25C>T (n.6166+25C>T)
c.6163+25C>T (n.6163+25C>T)
c.6013+25C>T (n.6013+25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128300792G=CA1581253440FBN2n.2950+25C=
n.2869+25C=
c.6166+25C= (n.6166+25C=)
c.6163+25C= (n.6163+25C=)
c.6013+25C= (n.6013+25C=)
5g.128300793C>ACA2581503918FBN2n.2950+24G>T
n.2869+24G>T
c.6166+24G>T (n.6166+24G>T)
c.6163+24G>T (n.6163+24G>T)
c.6013+24G>T (n.6013+24G>T)
5g.128300793C=CA1581253441FBN2n.2950+24G=
n.2869+24G=
c.6166+24G= (n.6166+24G=)
c.6163+24G= (n.6163+24G=)
c.6013+24G= (n.6013+24G=)
5g.128300793C>GCA2581503919FBN2n.2950+24G>C
n.2869+24G>C
c.6166+24G>C (n.6166+24G>C)
c.6163+24G>C (n.6163+24G>C)
c.6013+24G>C (n.6013+24G>C)
5g.128300793C>TCA3394489FBN2n.2950+24G>A
n.2869+24G>A
c.6166+24G>A (n.6166+24G>A)
c.6163+24G>A (n.6163+24G>A)
c.6013+24G>A (n.6013+24G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128300794C>TCA2675114090FBN2n.2950+23G>A
n.2869+23G>A
c.6166+23G>A (n.6166+23G>A)
c.6163+23G>A (n.6163+23G>A)
c.6013+23G>A (n.6013+23G>A)
 gnomAD v4
5g.128300795T>CCA562717112FBN2n.2950+22A>G
n.2869+22A>G
c.6166+22A>G (n.6166+22A>G)
c.6163+22A>G (n.6163+22A>G)
c.6013+22A>G (n.6013+22A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.128300795T=CA1581253442FBN2n.2950+22A=
n.2869+22A=
c.6166+22A= (n.6166+22A=)
c.6163+22A= (n.6163+22A=)
c.6013+22A= (n.6013+22A=)
5g.128300797A>CCA2768335076FBN2n.2950+20T>G
n.2869+20T>G
c.6166+20T>G (n.6166+20T>G)
c.6163+20T>G (n.6163+20T>G)
c.6013+20T>G (n.6013+20T>G)
5g.128300798G>ACA2768335077FBN2n.2950+19C>T
n.2869+19C>T
c.6166+19C>T (n.6166+19C>T)
c.6163+19C>T (n.6163+19C>T)
c.6013+19C>T (n.6013+19C>T)
5g.128300799A>CCA2675114091FBN2n.2950+18T>G
n.2869+18T>G
c.6166+18T>G (n.6166+18T>G)
c.6163+18T>G (n.6163+18T>G)
c.6013+18T>G (n.6013+18T>G)
 gnomAD v4
5g.128300800A=CA1581253443FBN2n.2950+17T=
n.2869+17T=
c.6166+17T= (n.6166+17T=)
c.6163+17T= (n.6163+17T=)
c.6013+17T= (n.6013+17T=)
5g.128300800A>TCA1081357899FBN2n.2950+17T>A
n.2869+17T>A
c.6166+17T>A (n.6166+17T>A)
c.6163+17T>A (n.6163+17T>A)
c.6013+17T>A (n.6013+17T>A)
 dbSNP gnomAD v3 gnomAD v4
5g.128300801T>CCA3394490FBN2n.2950+16A>G
n.2869+16A>G
c.6166+16A>G (n.6166+16A>G)
c.6163+16A>G (n.6163+16A>G)
c.6013+16A>G (n.6013+16A>G)
 dbSNP ExAC gnomAD v2
5g.128300801T=CA1581253444FBN2n.2950+16A=
n.2869+16A=
c.6166+16A= (n.6166+16A=)
c.6163+16A= (n.6163+16A=)
c.6013+16A= (n.6013+16A=)
5g.128300802A>CCA2768335078FBN2n.2950+15T>G
n.2869+15T>G
c.6166+15T>G (n.6166+15T>G)
c.6163+15T>G (n.6163+15T>G)
c.6013+15T>G (n.6013+15T>G)
5g.128300802A>GCA2556331780FBN2n.2950+15T>C
n.2869+15T>C
c.6166+15T>C (n.6166+15T>C)
c.6163+15T>C (n.6163+15T>C)
c.6013+15T>C (n.6013+15T>C)
 gnomAD v4
5g.128300804A>GCA2768335079FBN2n.2950+13T>C
n.2869+13T>C
c.6166+13T>C (n.6166+13T>C)
c.6163+13T>C (n.6163+13T>C)
c.6013+13T>C (n.6013+13T>C)
5g.128300805T>CCA2675114092FBN2n.2950+12A>G
n.2869+12A>G
c.6166+12A>G (n.6166+12A>G)
c.6163+12A>G (n.6163+12A>G)
c.6013+12A>G (n.6013+12A>G)
 gnomAD v4
5g.128300806G>ACA562717113FBN2n.2950+11C>T
n.2869+11C>T
c.6166+11C>T (n.6166+11C>T)
c.6163+11C>T (n.6163+11C>T)
c.6013+11C>T (n.6013+11C>T)
 dbSNP gnomAD v2 gnomAD v4
5g.128300806G=CA1581253445FBN2n.2950+11C=
n.2869+11C=
c.6166+11C= (n.6166+11C=)
c.6163+11C= (n.6163+11C=)
c.6013+11C= (n.6013+11C=)
5g.128300808_128300809dupCA2578395893FBN2n.2950+8_2950+9dup
n.2869+8_2869+9dup
c.6166+8_6166+9dup (n.6166+8_6166+9dup)
c.6163+8_6163+9dup (n.6163+8_6163+9dup)
c.6013+8_6013+9dup (n.6013+8_6013+9dup)
5g.128300809A=CA1581253446FBN2n.2950+8T=
n.2869+8T=
c.6166+8T= (n.6166+8T=)
c.6163+8T= (n.6163+8T=)
c.6013+8T= (n.6013+8T=)
5g.128300809A>GCA562717114FBN2n.2950+8T>C
n.2869+8T>C
c.6166+8T>C (n.6166+8T>C)
c.6163+8T>C (n.6163+8T>C)
c.6013+8T>C (n.6013+8T>C)
 dbSNP gnomAD v2 gnomAD v4
5g.128300810C=CA1581253447FBN2n.2950+7G=
n.2869+7G=
c.6166+7G= (n.6166+7G=)
c.6163+7G= (n.6163+7G=)
c.6013+7G= (n.6013+7G=)
5g.128300810C>GCA2768335080FBN2n.2950+7G>C
n.2869+7G>C
c.6166+7G>C (n.6166+7G>C)
c.6163+7G>C (n.6163+7G>C)
c.6013+7G>C (n.6013+7G>C)
5g.128300810C>TCA562717115FBN2n.2950+7G>A
n.2869+7G>A
c.6166+7G>A (n.6166+7G>A)
c.6163+7G>A (n.6163+7G>A)
c.6013+7G>A (n.6013+7G>A)
 dbSNP gnomAD v2 gnomAD v4
5g.128300811T>ACA2768335081FBN2n.2950+6A>T
n.2869+6A>T
c.6166+6A>T (n.6166+6A>T)
c.6163+6A>T (n.6163+6A>T)
c.6013+6A>T (n.6013+6A>T)
5g.128300811T>CCA2675114093FBN2n.2950+6A>G
n.2869+6A>G
c.6166+6A>G (n.6166+6A>G)
c.6163+6A>G (n.6163+6A>G)
c.6013+6A>G (n.6013+6A>G)
 gnomAD v4
5g.128300812C=CA1581253448FBN2n.2950+5G=
n.2869+5G=
c.6166+5G= (n.6166+5G=)
c.6163+5G= (n.6163+5G=)
c.6013+5G= (n.6013+5G=)
5g.128300812C>TCA3394491FBN2n.2950+5G>A
n.2869+5G>A
c.6166+5G>A (n.6166+5G>A)
c.6163+5G>A (n.6163+5G>A)
c.6013+5G>A (n.6013+5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128300813T>CCA1081357901FBN2n.2950+4A>G
n.2869+4A>G
c.6166+4A>G (n.6166+4A>G)
c.6163+4A>G (n.6163+4A>G)
c.6013+4A>G (n.6013+4A>G)
 dbSNP gnomAD v3 gnomAD v4
5g.128300813T=CA1581253449FBN2n.2950+4A=
n.2869+4A=
c.6166+4A= (n.6166+4A=)
c.6163+4A= (n.6163+4A=)
c.6013+4A= (n.6013+4A=)
5g.128300814T>CCA127043141FBN2n.2950+3A>G
n.2869+3A>G
c.6166+3A>G (n.6166+3A>G)
c.6163+3A>G (n.6163+3A>G)
c.6013+3A>G (n.6013+3A>G)
 dbSNP
5g.128300814T=CA1581253450FBN2n.2950+3A=
n.2869+3A=
c.6166+3A= (n.6166+3A=)
c.6163+3A= (n.6163+3A=)
c.6013+3A= (n.6013+3A=)
5g.128300815A>CCA360766128FBN2n.2950+2T>G
n.2869+2T>G
c.6166+2T>G (n.6166+2T>G)
c.6163+2T>G (n.6163+2T>G)
c.6013+2T>G (n.6013+2T>G)
5g.128300815A>GCA360766130FBN2n.2950+2T>C
n.2869+2T>C
c.6166+2T>C (n.6166+2T>C)
c.6163+2T>C (n.6163+2T>C)
c.6013+2T>C (n.6013+2T>C)
5g.128300815A>TCA360766132FBN2n.2950+2T>A
n.2869+2T>A
c.6166+2T>A (n.6166+2T>A)
c.6163+2T>A (n.6163+2T>A)
c.6013+2T>A (n.6013+2T>A)
5g.128300816C>ACA360766134FBN2n.2950+1G>T
n.2869+1G>T
c.6166+1G>T (n.6166+1G>T)
c.6163+1G>T (n.6163+1G>T)
c.6013+1G>T (n.6013+1G>T)
5g.128300816C>GCA360766136FBN2n.2950+1G>C
n.2869+1G>C
c.6166+1G>C (n.6166+1G>C)
c.6163+1G>C (n.6163+1G>C)
c.6013+1G>C (n.6013+1G>C)
5g.128300816C>TCA360766137FBN2n.2950+1G>A
n.2869+1G>A
c.6166+1G>A (n.6166+1G>A)
c.6163+1G>A (n.6163+1G>A)
c.6013+1G>A (n.6013+1G>A)
5g.128300817C>ACA360766142FBN2n.2950G>T
n.2869G>T
c.6166G>T (p.Asp2056Tyr)
c.6163G>T (p.Asp2055Tyr)
c.6013G>T (p.Asp2005Tyr)
5g.128300817C>GCA360766138FBN2n.2950G>C
n.2869G>C
c.6166G>C (p.Asp2056His)
c.6163G>C (p.Asp2055His)
c.6013G>C (p.Asp2005His)
5g.128300817C>TCA360766140FBN2n.2950G>A
n.2869G>A
c.6166G>A (p.Asp2056Asn)
c.6163G>A (p.Asp2055Asn)
c.6013G>A (p.Asp2005Asn)
5g.128300818A=CA1581253451FBN2n.2949T=
n.2868T=
c.6165T= (p.Ile2055=)
c.6162T= (p.Ile2054=)
c.6012T= (p.Ile2004=)
5g.128300818A>CCA360766143FBN2n.2949T>G
n.2868T>G
c.6165T>G (p.Ile2055Met)
c.6162T>G (p.Ile2054Met)
c.6012T>G (p.Ile2004Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128300818A>GCA446309186FBN2n.2949T>C
n.2868T>C
c.6165T>C (p.Ile2055=)
c.6162T>C (p.Ile2054=)
c.6012T>C (p.Ile2004=)
5g.128300818A>TCA446309187FBN2n.2949T>A
n.2868T>A
c.6165T>A (p.Ile2055=)
c.6162T>A (p.Ile2054=)
c.6012T>A (p.Ile2004=)
5g.128300819A>CCA360766144FBN2n.2948T>G
n.2867T>G
c.6164T>G (p.Ile2055Ser)
c.6161T>G (p.Ile2054Ser)
c.6011T>G (p.Ile2004Ser)
5g.128300819A>GCA360766146FBN2n.2948T>C
n.2867T>C
c.6164T>C (p.Ile2055Thr)
c.6161T>C (p.Ile2054Thr)
c.6011T>C (p.Ile2004Thr)
5g.128300819A>TCA360766149FBN2n.2948T>A
n.2867T>A
c.6164T>A (p.Ile2055Asn)
c.6161T>A (p.Ile2054Asn)
c.6011T>A (p.Ile2004Asn)
5g.128300820T>ACA360766151FBN2n.2947A>T
n.2866A>T
c.6163A>T (p.Ile2055Phe)
c.6160A>T (p.Ile2054Phe)
c.6010A>T (p.Ile2004Phe)
5g.128300820T>CCA360766152FBN2n.2947A>G
n.2866A>G
c.6163A>G (p.Ile2055Val)
c.6160A>G (p.Ile2054Val)
c.6010A>G (p.Ile2004Val)
 dbSNP gnomAD v2 gnomAD v4
5g.128300820T>GCA360766154FBN2n.2947A>C
n.2866A>C
c.6163A>C (p.Ile2055Leu)
c.6160A>C (p.Ile2054Leu)
c.6010A>C (p.Ile2004Leu)
5g.128300820T=CA1581253452FBN2n.2947A=
n.2866A=
c.6163A= (p.Ile2055=)
c.6160A= (p.Ile2054=)
c.6010A= (p.Ile2004=)
5g.128300821G>ACA446309191FBN2n.2946C>T
n.2865C>T
c.6162C>T (p.Cys2054=)
c.6159C>T (p.Cys2053=)
c.6009C>T (p.Cys2003=)
 dbSNP gnomAD v4
5g.128300821G>CCA360766156FBN2n.2946C>G
n.2865C>G
c.6162C>G (p.Cys2054Trp)
c.6159C>G (p.Cys2053Trp)
c.6009C>G (p.Cys2003Trp)
5g.128300821G=CA1581253453FBN2n.2946C=
n.2865C=
c.6162C= (p.Cys2054=)
c.6159C= (p.Cys2053=)
c.6009C= (p.Cys2003=)
5g.128300821G>TCA360766158FBN2n.2946C>A
n.2865C>A
c.6162C>A (p.Cys2054Ter)
c.6159C>A (p.Cys2053Ter)
c.6009C>A (p.Cys2003Ter)
5g.128300822C>ACA360766160FBN2n.2945G>T
n.2864G>T
c.6161G>T (p.Cys2054Phe)
c.6158G>T (p.Cys2053Phe)
c.6008G>T (p.Cys2003Phe)
5g.128300822C>GCA360766161FBN2n.2945G>C
n.2864G>C
c.6161G>C (p.Cys2054Ser)
c.6158G>C (p.Cys2053Ser)
c.6008G>C (p.Cys2003Ser)
5g.128300822C>TCA360766162FBN2n.2945G>A
n.2864G>A
c.6161G>A (p.Cys2054Tyr)
c.6158G>A (p.Cys2053Tyr)
c.6008G>A (p.Cys2003Tyr)
5g.128300823A>CCA360766165FBN2n.2944T>G
n.2863T>G
c.6160T>G (p.Cys2054Gly)
c.6157T>G (p.Cys2053Gly)
c.6007T>G (p.Cys2003Gly)
5g.128300823A>GCA360766168FBN2n.2944T>C
n.2863T>C
c.6160T>C (p.Cys2054Arg)
c.6157T>C (p.Cys2053Arg)
c.6007T>C (p.Cys2003Arg)
5g.128300823A>TCA360766167FBN2n.2944T>A
n.2863T>A
c.6160T>A (p.Cys2054Ser)
c.6157T>A (p.Cys2053Ser)
c.6007T>A (p.Cys2003Ser)
 ClinVar
5g.128300824G>ACA446309193FBN2n.2943C>T
n.2862C>T
c.6159C>T (p.Asn2053=)
c.6156C>T (p.Asn2052=)
c.6006C>T (p.Asn2002=)
5g.128300824G>CCA360766171FBN2n.2943C>G
n.2862C>G
c.6159C>G (p.Asn2053Lys)
c.6156C>G (p.Asn2052Lys)
c.6006C>G (p.Asn2002Lys)
5g.128300824G>TCA360766173FBN2n.2943C>A
n.2862C>A
c.6159C>A (p.Asn2053Lys)
c.6156C>A (p.Asn2052Lys)
c.6006C>A (p.Asn2002Lys)
5g.128300825T>ACA360766176FBN2n.2942A>T
n.2861A>T
c.6158A>T (p.Asn2053Ile)
c.6155A>T (p.Asn2052Ile)
c.6005A>T (p.Asn2002Ile)
5g.128300825T>CCA360766178FBN2n.2942A>G
n.2861A>G
c.6158A>G (p.Asn2053Ser)
c.6155A>G (p.Asn2052Ser)
c.6005A>G (p.Asn2002Ser)
 gnomAD v4
5g.128300825T>GCA360766180FBN2n.2942A>C
n.2861A>C
c.6158A>C (p.Asn2053Thr)
c.6155A>C (p.Asn2052Thr)
c.6005A>C (p.Asn2002Thr)
5g.128300826T>ACA360766182FBN2n.2941A>T
n.2860A>T
c.6157A>T (p.Asn2053Tyr)
c.6154A>T (p.Asn2052Tyr)
c.6004A>T (p.Asn2002Tyr)
5g.128300826T>CCA360766184FBN2n.2941A>G
n.2860A>G
c.6157A>G (p.Asn2053Asp)
c.6154A>G (p.Asn2052Asp)
c.6004A>G (p.Asn2002Asp)
5g.128300826T>GCA360766186FBN2n.2941A>C
n.2860A>C
c.6157A>C (p.Asn2053His)
c.6154A>C (p.Asn2052His)
c.6004A>C (p.Asn2002His)
 gnomAD v4
5g.128300827C>ACA360766188FBN2n.2940G>T
n.2859G>T
c.6156G>T (p.Glu2052Asp)
c.6153G>T (p.Glu2051Asp)
c.6003G>T (p.Glu2001Asp)
 gnomAD v4
5g.128300827C>GCA360766190FBN2n.2940G>C
n.2859G>C
c.6156G>C (p.Glu2052Asp)
c.6153G>C (p.Glu2051Asp)
c.6003G>C (p.Glu2001Asp)
5g.128300827C>TCA446309196FBN2n.2940G>A
n.2859G>A
c.6156G>A (p.Glu2052=)
c.6153G>A (p.Glu2051=)
c.6003G>A (p.Glu2001=)
5g.128300828T>ACA360766192FBN2n.2939A>T
n.2858A>T
c.6155A>T (p.Glu2052Val)
c.6152A>T (p.Glu2051Val)
c.6002A>T (p.Glu2001Val)
5g.128300828T>CCA360766194FBN2n.2939A>G
n.2858A>G
c.6155A>G (p.Glu2052Gly)
c.6152A>G (p.Glu2051Gly)
c.6002A>G (p.Glu2001Gly)
5g.128300828T>GCA360766196FBN2n.2939A>C
n.2858A>C
c.6155A>C (p.Glu2052Ala)
c.6152A>C (p.Glu2051Ala)
c.6002A>C (p.Glu2001Ala)
5g.128300829C>ACA360766197FBN2n.2938G>T
n.2857G>T
c.6154G>T (p.Glu2052Ter)
c.6151G>T (p.Glu2051Ter)
c.6001G>T (p.Glu2001Ter)
5g.128300829C=CA1581253454FBN2n.2938G=
n.2857G=
c.6154G= (p.Glu2052=)
c.6151G= (p.Glu2051=)
c.6001G= (p.Glu2001=)
5g.128300829C>GCA360766201FBN2n.2938G>C
n.2857G>C
c.6154G>C (p.Glu2052Gln)
c.6151G>C (p.Glu2051Gln)
c.6001G>C (p.Glu2001Gln)
 COSMIC COSMIC
5g.128300829C>TCA3394492FBN2n.2938G>A
n.2857G>A
c.6154G>A (p.Glu2052Lys)
c.6151G>A (p.Glu2051Lys)
c.6001G>A (p.Glu2001Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.128300830G>ACA127043151FBN2n.2937C>T
n.2856C>T
c.6153C>T (p.Ser2051=)
c.6150C>T (p.Ser2050=)
c.6000C>T (p.Ser2000=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128300830G>CCA360766204FBN2n.2937C>G
n.2856C>G
c.6153C>G (p.Ser2051Arg)
c.6150C>G (p.Ser2050Arg)
c.6000C>G (p.Ser2000Arg)
5g.128300830G=CA1581253455FBN2n.2937C=
n.2856C=
c.6153C= (p.Ser2051=)
c.6150C= (p.Ser2050=)
c.6000C= (p.Ser2000=)
5g.128300830G>TCA360766205FBN2n.2937C>A
n.2856C>A
c.6153C>A (p.Ser2051Arg)
c.6150C>A (p.Ser2050Arg)
c.6000C>A (p.Ser2000Arg)
5g.128300831C>ACA360766208FBN2n.2936G>T
n.2855G>T
c.6152G>T (p.Ser2051Ile)
c.6149G>T (p.Ser2050Ile)
c.5999G>T (p.Ser2000Ile)
 ClinVar
5g.128300831C>GCA360766210FBN2n.2936G>C
n.2855G>C
c.6152G>C (p.Ser2051Thr)
c.6149G>C (p.Ser2050Thr)
c.5999G>C (p.Ser2000Thr)
5g.128300831C>TCA360766212FBN2n.2936G>A
n.2855G>A
c.6152G>A (p.Ser2051Asn)
c.6149G>A (p.Ser2050Asn)
c.5999G>A (p.Ser2000Asn)
 gnomAD v4
5g.128300832T>ACA360766214FBN2n.2935A>T
n.2854A>T
c.6151A>T (p.Ser2051Cys)
c.6148A>T (p.Ser2050Cys)
c.5998A>T (p.Ser2000Cys)
5g.128300832T>CCA360766216FBN2n.2935A>G
n.2854A>G
c.6151A>G (p.Ser2051Gly)
c.6148A>G (p.Ser2050Gly)
c.5998A>G (p.Ser2000Gly)
5g.128300832T>GCA360766218FBN2n.2935A>C
n.2854A>C
c.6151A>C (p.Ser2051Arg)
c.6148A>C (p.Ser2050Arg)
c.5998A>C (p.Ser2000Arg)
5g.128300833T>ACA360766220FBN2n.2934A>T
n.2853A>T
c.6150A>T (p.Lys2050Asn)
c.6147A>T (p.Lys2049Asn)
c.5997A>T (p.Lys1999Asn)
5g.128300833T>CCA446309201FBN2n.2934A>G
n.2853A>G
c.6150A>G (p.Lys2050=)
c.6147A>G (p.Lys2049=)
c.5997A>G (p.Lys1999=)
5g.128300833T>GCA360766222FBN2n.2934A>C
n.2853A>C
c.6150A>C (p.Lys2050Asn)
c.6147A>C (p.Lys2049Asn)
c.5997A>C (p.Lys1999Asn)
5g.128300834T>ACA360766228FBN2n.2933A>T
n.2852A>T
c.6149A>T (p.Lys2050Ile)
c.6146A>T (p.Lys2049Ile)
c.5996A>T (p.Lys1999Ile)
5g.128300834T>CCA360766227FBN2n.2933A>G
n.2852A>G
c.6149A>G (p.Lys2050Arg)
c.6146A>G (p.Lys2049Arg)
c.5996A>G (p.Lys1999Arg)
5g.128300834T>GCA360766225FBN2n.2933A>C
n.2852A>C
c.6149A>C (p.Lys2050Thr)
c.6146A>C (p.Lys2049Thr)
c.5996A>C (p.Lys1999Thr)
5g.128300835T>ACA360766229FBN2n.2932A>T
n.2851A>T
c.6148A>T (p.Lys2050Ter)
c.6145A>T (p.Lys2049Ter)
c.5995A>T (p.Lys1999Ter)
5g.128300835T>CCA321840FBN2n.2932A>G
n.2851A>G
c.6148A>G (p.Lys2050Glu)
c.6145A>G (p.Lys2049Glu)
c.5995A>G (p.Lys1999Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128300835T>GCA360766234FBN2n.2932A>C
n.2851A>C
c.6148A>C (p.Lys2050Gln)
c.6145A>C (p.Lys2049Gln)
c.5995A>C (p.Lys1999Gln)
5g.128300835T=CA1581253456FBN2n.2932A=
n.2851A=
c.6148A= (p.Lys2050=)
c.6145A= (p.Lys2049=)
c.5995A= (p.Lys1999=)
5g.128300836T>ACA446309203FBN2n.2931A>T
n.2850A>T
c.6147A>T (p.Val2049=)
c.6144A>T (p.Val2048=)
c.5994A>T (p.Val1998=)
5g.128300836T>CCA446309204FBN2n.2931A>G
n.2850A>G
c.6147A>G (p.Val2049=)
c.6144A>G (p.Val2048=)
c.5994A>G (p.Val1998=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128300836T>GCA446309205FBN2n.2931A>C
n.2850A>C
c.6147A>C (p.Val2049=)
c.6144A>C (p.Val2048=)
c.5994A>C (p.Val1998=)
 gnomAD v4
5g.128300836T=CA1581253457FBN2n.2931A=
n.2850A=
c.6147A= (p.Val2049=)
c.6144A= (p.Val2048=)
c.5994A= (p.Val1998=)
5g.128300837A=CA1581253458FBN2n.2930T=
n.2849T=
c.6146T= (p.Val2049=)
c.6143T= (p.Val2048=)
c.5993T= (p.Val1998=)
5g.128300837A>CCA360766236FBN2n.2930T>G
n.2849T>G
c.6146T>G (p.Val2049Gly)
c.6143T>G (p.Val2048Gly)
c.5993T>G (p.Val1998Gly)
5g.128300837A>GCA360766237FBN2n.2930T>C
n.2849T>C
c.6146T>C (p.Val2049Ala)
c.6143T>C (p.Val2048Ala)
c.5993T>C (p.Val1998Ala)
 dbSNP
5g.128300837A>TCA360766239FBN2n.2930T>A
n.2849T>A
c.6146T>A (p.Val2049Glu)
c.6143T>A (p.Val2048Glu)
c.5993T>A (p.Val1998Glu)
5g.128300838C>ACA360766240FBN2n.2929G>T
n.2848G>T
c.6145G>T (p.Val2049Leu)
c.6142G>T (p.Val2048Leu)
c.5992G>T (p.Val1998Leu)
5g.128300838C=CA1581253459FBN2n.2929G=
n.2848G=
c.6145G= (p.Val2049=)
c.6142G= (p.Val2048=)
c.5992G= (p.Val1998=)
5g.128300838C>GCA3394493FBN2n.2929G>C
n.2848G>C
c.6145G>C (p.Val2049Leu)
c.6142G>C (p.Val2048Leu)
c.5992G>C (p.Val1998Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128300838C>TCA360766243FBN2n.2929G>A
n.2848G>A
c.6145G>A (p.Val2049Ile)
c.6142G>A (p.Val2048Ile)
c.5992G>A (p.Val1998Ile)
5g.128300839T>ACA360766245FBN2n.2928A>T
n.2847A>T
c.6144A>T (p.Glu2048Asp)
c.6141A>T (p.Glu2047Asp)
c.5991A>T (p.Glu1997Asp)
5g.128300839T>CCA446309209FBN2n.2928A>G
n.2847A>G
c.6144A>G (p.Glu2048=)
c.6141A>G (p.Glu2047=)
c.5991A>G (p.Glu1997=)
5g.128300839T>GCA360766247FBN2n.2928A>C
n.2847A>C
c.6144A>C (p.Glu2048Asp)
c.6141A>C (p.Glu2047Asp)
c.5991A>C (p.Glu1997Asp)
5g.128300840T>ACA360766249FBN2n.2927A>T
n.2846A>T
c.6143A>T (p.Glu2048Val)
c.6140A>T (p.Glu2047Val)
c.5990A>T (p.Glu1997Val)
5g.128300840T>CCA360766252FBN2n.2927A>G
n.2846A>G
c.6143A>G (p.Glu2048Gly)
c.6140A>G (p.Glu2047Gly)
c.5990A>G (p.Glu1997Gly)
5g.128300840T>GCA360766253FBN2n.2927A>C
n.2846A>C
c.6143A>C (p.Glu2048Ala)
c.6140A>C (p.Glu2047Ala)
c.5990A>C (p.Glu1997Ala)
5g.128300841C>ACA360766259FBN2n.2926G>T
n.2845G>T
c.6142G>T (p.Glu2048Ter)
c.6139G>T (p.Glu2047Ter)
c.5989G>T (p.Glu1997Ter)
5g.128300841C=CA1581253460FBN2n.2926G=
n.2845G=
c.6142G= (p.Glu2048=)
c.6139G= (p.Glu2047=)
c.5989G= (p.Glu1997=)
5g.128300841C>GCA360766258FBN2n.2926G>C
n.2845G>C
c.6142G>C (p.Glu2048Gln)
c.6139G>C (p.Glu2047Gln)
c.5989G>C (p.Glu1997Gln)
5g.128300841C>TCA360766256FBN2n.2926G>A
n.2845G>A
c.6142G>A (p.Glu2048Lys)
c.6139G>A (p.Glu2047Lys)
c.5989G>A (p.Glu1997Lys)
 dbSNP gnomAD v4
5g.128300842A=CA1581253461FBN2n.2925T=
n.2844T=
c.6141T= (p.Tyr2047=)
c.6138T= (p.Tyr2046=)
c.5988T= (p.Tyr1996=)
5g.128300842A>CCA360766261FBN2n.2925T>G
n.2844T>G
c.6141T>G (p.Tyr2047Ter)
c.6138T>G (p.Tyr2046Ter)
c.5988T>G (p.Tyr1996Ter)
5g.128300842A>GCA446309210FBN2n.2925T>C
n.2844T>C
c.6141T>C (p.Tyr2047=)
c.6138T>C (p.Tyr2046=)
c.5988T>C (p.Tyr1996=)
 dbSNP
5g.128300842A>TCA360766263FBN2n.2925T>A
n.2844T>A
c.6141T>A (p.Tyr2047Ter)
c.6138T>A (p.Tyr2046Ter)
c.5988T>A (p.Tyr1996Ter)
5g.128300842_128300843delinsCCCA645546421FBN2n.2924_2925delinsGG
n.2843_2844delinsGG
c.6140_6141delinsGG (p.Tyr2047Trp)
c.6137_6138delinsGG (p.Tyr2046Trp)
c.5987_5988delinsGG (p.Tyr1996Trp)
 COSMIC COSMIC
5g.128300843T>ACA360766265FBN2n.2924A>T
n.2843A>T
c.6140A>T (p.Tyr2047Phe)
c.6137A>T (p.Tyr2046Phe)
c.5987A>T (p.Tyr1996Phe)
5g.128300843T>CCA127043172FBN2n.2924A>G
n.2843A>G
c.6140A>G (p.Tyr2047Cys)
c.6137A>G (p.Tyr2046Cys)
c.5987A>G (p.Tyr1996Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128300843T>GCA360766268FBN2n.2924A>C
n.2843A>C
c.6140A>C (p.Tyr2047Ser)
c.6137A>C (p.Tyr2046Ser)
c.5987A>C (p.Tyr1996Ser)
5g.128300843T=CA1581253462FBN2n.2924A=
n.2843A=
c.6140A= (p.Tyr2047=)
c.6137A= (p.Tyr2046=)
c.5987A= (p.Tyr1996=)
5g.128300844A>CCA360766271FBN2n.2923T>G
n.2842T>G
c.6139T>G (p.Tyr2047Asp)
c.6136T>G (p.Tyr2046Asp)
c.5986T>G (p.Tyr1996Asp)
5g.128300844A>GCA360766273FBN2n.2923T>C
n.2842T>C
c.6139T>C (p.Tyr2047His)
c.6136T>C (p.Tyr2046His)
c.5986T>C (p.Tyr1996His)
5g.128300844A>TCA360766276FBN2n.2923T>A
n.2842T>A
c.6139T>A (p.Tyr2047Asn)
c.6136T>A (p.Tyr2046Asn)
c.5986T>A (p.Tyr1996Asn)
5g.128300845C>ACA3394494FBN2n.2922G>T
n.2841G>T
c.6138G>T (p.Gly2046=)
c.6135G>T (p.Gly2045=)
c.5985G>T (p.Gly1995=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128300845C=CA1581253463FBN2n.2922G=
n.2841G=
c.6138G= (p.Gly2046=)
c.6135G= (p.Gly2045=)
c.5985G= (p.Gly1995=)
5g.128300845C>GCA446309213FBN2n.2922G>C
n.2841G>C
c.6138G>C (p.Gly2046=)
c.6135G>C (p.Gly2045=)
c.5985G>C (p.Gly1995=)
5g.128300845C>TCA446309214FBN2n.2922G>A
n.2841G>A
c.6138G>A (p.Gly2046=)
c.6135G>A (p.Gly2045=)
c.5985G>A (p.Gly1995=)
5g.128300846C>ACA360766280FBN2n.2921G>T
n.2840G>T
c.6137G>T (p.Gly2046Val)
c.6134G>T (p.Gly2045Val)
c.5984G>T (p.Gly1995Val)
5g.128300846C=CA1581253464FBN2n.2921G=
n.2840G=
c.6137G= (p.Gly2046=)
c.6134G= (p.Gly2045=)
c.5984G= (p.Gly1995=)
5g.128300846C>GCA3394495FBN2n.2921G>C
n.2840G>C
c.6137G>C (p.Gly2046Ala)
c.6134G>C (p.Gly2045Ala)
c.5984G>C (p.Gly1995Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128300846C>TCA360766282FBN2n.2921G>A
n.2840G>A
c.6137G>A (p.Gly2046Glu)
c.6134G>A (p.Gly2045Glu)
c.5984G>A (p.Gly1995Glu)
5g.128300847C>ACA360766288FBN2n.2920G>T
n.2839G>T
c.6136G>T (p.Gly2046Trp)
c.6133G>T (p.Gly2045Trp)
c.5983G>T (p.Gly1995Trp)
 gnomAD v4
5g.128300847C>GCA360766287FBN2n.2920G>C
n.2839G>C
c.6136G>C (p.Gly2046Arg)
c.6133G>C (p.Gly2045Arg)
c.5983G>C (p.Gly1995Arg)
5g.128300847C>TCA360766285FBN2n.2920G>A
n.2839G>A
c.6136G>A (p.Gly2046Arg)
c.6133G>A (p.Gly2045Arg)
c.5983G>A (p.Gly1995Arg)
5g.128300848T>ACA446309217FBN2n.2919A>T
n.2838A>T
c.6135A>T (p.Pro2045=)
c.6132A>T (p.Pro2044=)
c.5982A>T (p.Pro1994=)
5g.128300848T>CCA3394496FBN2n.2919A>G
n.2838A>G
c.6135A>G (p.Pro2045=)
c.6132A>G (p.Pro2044=)
c.5982A>G (p.Pro1994=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128300848T>GCA446309218FBN2n.2919A>C
n.2838A>C
c.6135A>C (p.Pro2045=)
c.6132A>C (p.Pro2044=)
c.5982A>C (p.Pro1994=)
5g.128300848T=CA1581253465FBN2n.2919A=
n.2838A=
c.6135A= (p.Pro2045=)
c.6132A= (p.Pro2044=)
c.5982A= (p.Pro1994=)
5g.128300849G>ACA360766290FBN2n.2918C>T
n.2837C>T
c.6134C>T (p.Pro2045Leu)
c.6131C>T (p.Pro2044Leu)
c.5981C>T (p.Pro1994Leu)
 dbSNP
5g.128300849G>CCA360766292FBN2n.2918C>G
n.2837C>G
c.6134C>G (p.Pro2045Arg)
c.6131C>G (p.Pro2044Arg)
c.5981C>G (p.Pro1994Arg)
5g.128300849G=CA1581253466FBN2n.2918C=
n.2837C=
c.6134C= (p.Pro2045=)
c.6131C= (p.Pro2044=)
c.5981C= (p.Pro1994=)
5g.128300849G>TCA360766293FBN2n.2918C>A
n.2837C>A
c.6134C>A (p.Pro2045Gln)
c.6131C>A (p.Pro2044Gln)
c.5981C>A (p.Pro1994Gln)
5g.128300853delCA2578395894FBN2n.2918del
n.2837del
c.6134del (p.Pro2045GlnfsTer5)
c.6131del (p.Pro2044GlnfsTer5)
c.5981del (p.Pro1994GlnfsTer5)
5g.128300850G>ACA360766296FBN2n.2917C>T
n.2836C>T
c.6133C>T (p.Pro2045Ser)
c.6130C>T (p.Pro2044Ser)
c.5980C>T (p.Pro1994Ser)
5g.128300850G>CCA3394497FBN2n.2917C>G
n.2836C>G
c.6133C>G (p.Pro2045Ala)
c.6130C>G (p.Pro2044Ala)
c.5980C>G (p.Pro1994Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128300850G=CA1581253467FBN2n.2917C=
n.2836C=
c.6133C= (p.Pro2045=)
c.6130C= (p.Pro2044=)
c.5980C= (p.Pro1994=)
5g.128300850G>TCA360766299FBN2n.2917C>A
n.2836C>A
c.6133C>A (p.Pro2045Thr)
c.6130C>A (p.Pro2044Thr)
c.5980C>A (p.Pro1994Thr)
5g.128300851G>ACA446309219FBN2n.2916C>T
n.2835C>T
c.6132C>T (p.Pro2044=)
c.6129C>T (p.Pro2043=)
c.5979C>T (p.Pro1993=)
5g.128300851G>CCA446309220FBN2n.2916C>G
n.2835C>G
c.6132C>G (p.Pro2044=)
c.6129C>G (p.Pro2043=)
c.5979C>G (p.Pro1993=)
5g.128300851G>TCA446309221FBN2n.2916C>A
n.2835C>A
c.6132C>A (p.Pro2044=)
c.6129C>A (p.Pro2043=)
c.5979C>A (p.Pro1993=)
5g.128300852G>ACA360766301FBN2n.2915C>T
n.2834C>T
c.6131C>T (p.Pro2044Leu)
c.6128C>T (p.Pro2043Leu)
c.5978C>T (p.Pro1993Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128300852G>CCA360766302FBN2n.2915C>G
n.2834C>G
c.6131C>G (p.Pro2044Arg)
c.6128C>G (p.Pro2043Arg)
c.5978C>G (p.Pro1993Arg)
5g.128300852G=CA1581253468FBN2n.2915C=
n.2834C=
c.6131C= (p.Pro2044=)
c.6128C= (p.Pro2043=)
c.5978C= (p.Pro1993=)
5g.128300852G>TCA360766305FBN2n.2915C>A
n.2834C>A
c.6131C>A (p.Pro2044His)
c.6128C>A (p.Pro2043His)
c.5978C>A (p.Pro1993His)
5g.128300853G>ACA360766307FBN2n.2914C>T
n.2833C>T
c.6130C>T (p.Pro2044Ser)
c.6127C>T (p.Pro2043Ser)
c.5977C>T (p.Pro1993Ser)
5g.128300853G>CCA3394498FBN2n.2914C>G
n.2833C>G
c.6130C>G (p.Pro2044Ala)
c.6127C>G (p.Pro2043Ala)
c.5977C>G (p.Pro1993Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128300853G=CA1581253469FBN2n.2914C=
n.2833C=
c.6130C= (p.Pro2044=)
c.6127C= (p.Pro2043=)
c.5977C= (p.Pro1993=)
5g.128300853G>TCA360766310FBN2n.2914C>A
n.2833C>A
c.6130C>A (p.Pro2044Thr)
c.6127C>A (p.Pro2043Thr)
c.5977C>A (p.Pro1993Thr)
5g.128300854A>CCA360766314FBN2n.2913T>G
n.2832T>G
c.6129T>G (p.Cys2043Trp)
c.6126T>G (p.Cys2042Trp)
c.5976T>G (p.Cys1992Trp)
5g.128300854A>GCA446309224FBN2n.2913T>C
n.2832T>C
c.6129T>C (p.Cys2043=)
c.6126T>C (p.Cys2042=)
c.5976T>C (p.Cys1992=)
5g.128300854A>TCA360766312FBN2n.2913T>A
n.2832T>A
c.6129T>A (p.Cys2043Ter)
c.6126T>A (p.Cys2042Ter)
c.5976T>A (p.Cys1992Ter)
5g.128300855C>ACA360766315FBN2n.2912G>T
n.2831G>T
c.6128G>T (p.Cys2043Phe)
c.6125G>T (p.Cys2042Phe)
c.5975G>T (p.Cys1992Phe)
5g.128300855C>GCA360766317FBN2n.2912G>C
n.2831G>C
c.6128G>C (p.Cys2043Ser)
c.6125G>C (p.Cys2042Ser)
c.5975G>C (p.Cys1992Ser)
5g.128300855C>TCA360766320FBN2n.2912G>A
n.2831G>A
c.6128G>A (p.Cys2043Tyr)
c.6125G>A (p.Cys2042Tyr)
c.5975G>A (p.Cys1992Tyr)
5g.128300856A=CA1581253470FBN2n.2911T=
n.2830T=
c.6127T= (p.Cys2043=)
c.6124T= (p.Cys2042=)
c.5974T= (p.Cys1992=)
5g.128300856A>CCA360766322FBN2n.2911T>G
n.2830T>G
c.6127T>G (p.Cys2043Gly)
c.6124T>G (p.Cys2042Gly)
c.5974T>G (p.Cys1992Gly)
 gnomAD v4
5g.128300856A>GCA3394499FBN2n.2911T>C
n.2830T>C
c.6127T>C (p.Cys2043Arg)
c.6124T>C (p.Cys2042Arg)
c.5974T>C (p.Cys1992Arg)
 dbSNP ExAC gnomAD v2
5g.128300856A>TCA360766324FBN2n.2911T>A
n.2830T>A
c.6127T>A (p.Cys2043Ser)
c.6124T>A (p.Cys2042Ser)
c.5974T>A (p.Cys1992Ser)
5g.128300857G>ACA446309229FBN2n.2910C>T
n.2829C>T
c.6126C>T (p.Ile2042=)
c.6123C>T (p.Ile2041=)
c.5973C>T (p.Ile1991=)
5g.128300857G>CCA360766325FBN2n.2910C>G
n.2829C>G
c.6126C>G (p.Ile2042Met)
c.6123C>G (p.Ile2041Met)
c.5973C>G (p.Ile1991Met)
5g.128300857G>TCA446309228FBN2n.2910C>A
n.2829C>A
c.6126C>A (p.Ile2042=)
c.6123C>A (p.Ile2041=)
c.5973C>A (p.Ile1991=)
5g.128300858A>CCA360766328FBN2n.2909T>G
n.2828T>G
c.6125T>G (p.Ile2042Ser)
c.6122T>G (p.Ile2041Ser)
c.5972T>G (p.Ile1991Ser)
 gnomAD v4
5g.128300858A>GCA360766330FBN2n.2909T>C
n.2828T>C
c.6125T>C (p.Ile2042Thr)
c.6122T>C (p.Ile2041Thr)
c.5972T>C (p.Ile1991Thr)
 gnomAD v4
5g.128300858A>TCA360766334FBN2n.2909T>A
n.2828T>A
c.6125T>A (p.Ile2042Asn)
c.6122T>A (p.Ile2041Asn)
c.5972T>A (p.Ile1991Asn)
5g.128300859T>ACA360766337FBN2n.2908A>T
n.2827A>T
c.6124A>T (p.Ile2042Phe)
c.6121A>T (p.Ile2041Phe)
c.5971A>T (p.Ile1991Phe)
5g.128300859T>CCA360766338FBN2n.2908A>G
n.2827A>G
c.6124A>G (p.Ile2042Val)
c.6121A>G (p.Ile2041Val)
c.5971A>G (p.Ile1991Val)
5g.128300859T>GCA360766341FBN2n.2908A>C
n.2827A>C
c.6124A>C (p.Ile2042Leu)
c.6121A>C (p.Ile2041Leu)
c.5971A>C (p.Ile1991Leu)
5g.128300860G>ACA446309231FBN2n.2907C>T
n.2826C>T
c.6123C>T (p.Cys2041=)
c.6120C>T (p.Cys2040=)
c.5970C>T (p.Cys1990=)
5g.128300860G>CCA360766342FBN2n.2907C>G
n.2826C>G
c.6123C>G (p.Cys2041Trp)
c.6120C>G (p.Cys2040Trp)
c.5970C>G (p.Cys1990Trp)
5g.128300860G>TCA360766343FBN2n.2907C>A
n.2826C>A
c.6123C>A (p.Cys2041Ter)
c.6120C>A (p.Cys2040Ter)
c.5970C>A (p.Cys1990Ter)
5g.128300861C>ACA360766344FBN2n.2906G>T
n.2825G>T
c.6122G>T (p.Cys2041Phe)
c.6119G>T (p.Cys2040Phe)
c.5969G>T (p.Cys1990Phe)
 COSMIC COSMIC
5g.128300861C>GCA360766347FBN2n.2906G>C
n.2825G>C
c.6122G>C (p.Cys2041Ser)
c.6119G>C (p.Cys2040Ser)
c.5969G>C (p.Cys1990Ser)
5g.128300861C>TCA360766345FBN2n.2906G>A
n.2825G>A
c.6122G>A (p.Cys2041Tyr)
c.6119G>A (p.Cys2040Tyr)
c.5969G>A (p.Cys1990Tyr)
 ClinVar dbSNP gnomAD v4
5g.128300862A>CCA360766349FBN2n.2905T>G
n.2824T>G
c.6121T>G (p.Cys2041Gly)
c.6118T>G (p.Cys2040Gly)
c.5968T>G (p.Cys1990Gly)
5g.128300862A>GCA360766353FBN2n.2905T>C
n.2824T>C
c.6121T>C (p.Cys2041Arg)
c.6118T>C (p.Cys2040Arg)
c.5968T>C (p.Cys1990Arg)
5g.128300862A>TCA360766351FBN2n.2905T>A
n.2824T>A
c.6121T>A (p.Cys2041Ser)
c.6118T>A (p.Cys2040Ser)
c.5968T>A (p.Cys1990Ser)
5g.128300863T>ACA360766355FBN2n.2904A>T
n.2823A>T
c.6120A>T (p.Arg2040Ser)
c.6117A>T (p.Arg2039Ser)
c.5967A>T (p.Arg1989Ser)
5g.128300863T>CCA446309235FBN2n.2904A>G
n.2823A>G
c.6120A>G (p.Arg2040=)
c.6117A>G (p.Arg2039=)
c.5967A>G (p.Arg1989=)
5g.128300863T>GCA360766357FBN2n.2904A>C
n.2823A>C
c.6120A>C (p.Arg2040Ser)
c.6117A>C (p.Arg2039Ser)
c.5967A>C (p.Arg1989Ser)
5g.128300864C>ACA360766359FBN2n.2903G>T
n.2822G>T
c.6119G>T (p.Arg2040Ile)
c.6116G>T (p.Arg2039Ile)
c.5966G>T (p.Arg1989Ile)
5g.128300864C=CA1581253471FBN2n.2903G=
n.2822G=
c.6119G= (p.Arg2040=)
c.6116G= (p.Arg2039=)
c.5966G= (p.Arg1989=)
5g.128300864C>GCA360766361FBN2n.2903G>C
n.2822G>C
c.6119G>C (p.Arg2040Thr)
c.6116G>C (p.Arg2039Thr)
c.5966G>C (p.Arg1989Thr)
5g.128300864C>TCA360766363FBN2n.2903G>A
n.2822G>A
c.6119G>A (p.Arg2040Lys)
c.6116G>A (p.Arg2039Lys)
c.5966G>A (p.Arg1989Lys)
 dbSNP gnomAD v2 gnomAD v4
5g.128300865T>ACA360766364FBN2n.2902A>T
n.2821A>T
c.6118A>T (p.Arg2040Ter)
c.6115A>T (p.Arg2039Ter)
c.5965A>T (p.Arg1989Ter)
5g.128300865T>CCA10587605FBN2n.2902A>G
n.2821A>G
c.6118A>G (p.Arg2040Gly)
c.6115A>G (p.Arg2039Gly)
c.5965A>G (p.Arg1989Gly)
 ClinVar dbSNP
5g.128300865T>GCA446309237FBN2n.2902A>C
n.2821A>C
c.6118A>C (p.Arg2040=)
c.6115A>C (p.Arg2039=)
c.5965A>C (p.Arg1989=)
5g.128300865T=CA1581253472FBN2n.2902A=
n.2821A=
c.6118A= (p.Arg2040=)
c.6115A= (p.Arg2039=)
c.5965A= (p.Arg1989=)
5g.128300866G>ACA446309238FBN2n.2901C>T
n.2820C>T
c.6117C>T (p.Phe2039=)
c.6114C>T (p.Phe2038=)
c.5964C>T (p.Phe1988=)
 dbSNP
5g.128300866G>CCA360766369FBN2n.2901C>G
n.2820C>G
c.6117C>G (p.Phe2039Leu)
c.6114C>G (p.Phe2038Leu)
c.5964C>G (p.Phe1988Leu)
5g.128300866G=CA1581253473FBN2n.2901C=
n.2820C=
c.6117C= (p.Phe2039=)
c.6114C= (p.Phe2038=)
c.5964C= (p.Phe1988=)
5g.128300866G>TCA360766371FBN2n.2901C>A
n.2820C>A
c.6117C>A (p.Phe2039Leu)
c.6114C>A (p.Phe2038Leu)
c.5964C>A (p.Phe1988Leu)
5g.128300867A>CCA360766374FBN2n.2900T>G
n.2819T>G
c.6116T>G (p.Phe2039Cys)
c.6113T>G (p.Phe2038Cys)
c.5963T>G (p.Phe1988Cys)
5g.128300867A>GCA360766376FBN2n.2900T>C
n.2819T>C
c.6116T>C (p.Phe2039Ser)
c.6113T>C (p.Phe2038Ser)
c.5963T>C (p.Phe1988Ser)
5g.128300867A>TCA360766378FBN2n.2900T>A
n.2819T>A
c.6116T>A (p.Phe2039Tyr)
c.6113T>A (p.Phe2038Tyr)
c.5963T>A (p.Phe1988Tyr)
 gnomAD v4
5g.128300868A>CCA360766380FBN2n.2899T>G
n.2818T>G
c.6115T>G (p.Phe2039Val)
c.6112T>G (p.Phe2038Val)
c.5962T>G (p.Phe1988Val)
5g.128300868A>GCA360766382FBN2n.2899T>C
n.2818T>C
c.6115T>C (p.Phe2039Leu)
c.6112T>C (p.Phe2038Leu)
c.5962T>C (p.Phe1988Leu)
5g.128300868A>TCA360766381FBN2n.2899T>A
n.2818T>A
c.6115T>A (p.Phe2039Ile)
c.6112T>A (p.Phe2038Ile)
c.5962T>A (p.Phe1988Ile)

Number of alleles fetched