Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128357222C>ACA1581282232FBN2c.2674+54G>T (n.2674+54G>T)
c.2575+54G>T (n.2575+54G>T)
c.2671+54G>T (n.2671+54G>T)
c.2521+54G>T (n.2521+54G>T)
 dbSNP gnomAD v4
5g.128357222C=CA1581282231FBN2c.2674+54G= (n.2674+54G=)
c.2575+54G= (n.2575+54G=)
c.2671+54G= (n.2671+54G=)
c.2521+54G= (n.2521+54G=)
5g.128357224_128357228delCA2675118746FBN2c.2674+50_2674+54del (n.2674+50_2674+54del)
c.2575+50_2575+54del (n.2575+50_2575+54del)
c.2671+50_2671+54del (n.2671+50_2671+54del)
c.2521+50_2521+54del (n.2521+50_2521+54del)
 gnomAD v4
5g.128357223T>GCA2675118747FBN2c.2674+53A>C (n.2674+53A>C)
c.2575+53A>C (n.2575+53A>C)
c.2671+53A>C (n.2671+53A>C)
c.2521+53A>C (n.2521+53A>C)
 gnomAD v4
5g.128357226G>ACA2675118748FBN2c.2674+50C>T (n.2674+50C>T)
c.2575+50C>T (n.2575+50C>T)
c.2671+50C>T (n.2671+50C>T)
c.2521+50C>T (n.2521+50C>T)
 gnomAD v4
5g.128357226G>TCA650270624FBN2c.2674+50C>A (n.2674+50C>A)
c.2575+50C>A (n.2575+50C>A)
c.2671+50C>A (n.2671+50C>A)
c.2521+50C>A (n.2521+50C>A)
 COSMIC
5g.128357227C>TCA2675118749FBN2c.2674+49G>A (n.2674+49G>A)
c.2575+49G>A (n.2575+49G>A)
c.2671+49G>A (n.2671+49G>A)
c.2521+49G>A (n.2521+49G>A)
 gnomAD v4
5g.128357229T>CCA2519470635FBN2c.2674+47A>G (n.2674+47A>G)
c.2575+47A>G (n.2575+47A>G)
c.2671+47A>G (n.2671+47A>G)
c.2521+47A>G (n.2521+47A>G)
 dbSNP gnomAD v4
5g.128357230A=CA1581282233FBN2c.2674+46T= (n.2674+46T=)
c.2575+46T= (n.2575+46T=)
c.2671+46T= (n.2671+46T=)
c.2521+46T= (n.2521+46T=)
5g.128357230A>GCA1081366591FBN2c.2674+46T>C (n.2674+46T>C)
c.2575+46T>C (n.2575+46T>C)
c.2671+46T>C (n.2671+46T>C)
c.2521+46T>C (n.2521+46T>C)
 dbSNP gnomAD v3 gnomAD v4
5g.128357231T>CCA2675118750FBN2c.2674+45A>G (n.2674+45A>G)
c.2575+45A>G (n.2575+45A>G)
c.2671+45A>G (n.2671+45A>G)
c.2521+45A>G (n.2521+45A>G)
 gnomAD v4
5g.128357232C=CA1581282234FBN2c.2674+44G= (n.2674+44G=)
c.2575+44G= (n.2575+44G=)
c.2671+44G= (n.2671+44G=)
c.2521+44G= (n.2521+44G=)
5g.128357232C>GCA2675118751FBN2c.2674+44G>C (n.2674+44G>C)
c.2575+44G>C (n.2575+44G>C)
c.2671+44G>C (n.2671+44G>C)
c.2521+44G>C (n.2521+44G>C)
 gnomAD v4
5g.128357232C>TCA562717642FBN2c.2674+44G>A (n.2674+44G>A)
c.2575+44G>A (n.2575+44G>A)
c.2671+44G>A (n.2671+44G>A)
c.2521+44G>A (n.2521+44G>A)
 dbSNP gnomAD v2 gnomAD v4
5g.128357235G>ACA127026806FBN2c.2674+41C>T (n.2674+41C>T)
c.2575+41C>T (n.2575+41C>T)
c.2671+41C>T (n.2671+41C>T)
c.2521+41C>T (n.2521+41C>T)
 dbSNP
5g.128357235G=CA1581282235FBN2c.2674+41C= (n.2674+41C=)
c.2575+41C= (n.2575+41C=)
c.2671+41C= (n.2671+41C=)
c.2521+41C= (n.2521+41C=)
5g.128357235G>TCA2578396479FBN2c.2674+41C>A (n.2674+41C>A)
c.2575+41C>A (n.2575+41C>A)
c.2671+41C>A (n.2671+41C>A)
c.2521+41C>A (n.2521+41C>A)
5g.128357236G>TCA2675118752FBN2c.2674+40C>A (n.2674+40C>A)
c.2575+40C>A (n.2575+40C>A)
c.2671+40C>A (n.2671+40C>A)
c.2521+40C>A (n.2521+40C>A)
 gnomAD v4
5g.128357237C=CA1581282236FBN2c.2674+39G= (n.2674+39G=)
c.2575+39G= (n.2575+39G=)
c.2671+39G= (n.2671+39G=)
c.2521+39G= (n.2521+39G=)
5g.128357237C>TCA1081366593FBN2c.2674+39G>A (n.2674+39G>A)
c.2575+39G>A (n.2575+39G>A)
c.2671+39G>A (n.2671+39G>A)
c.2521+39G>A (n.2521+39G>A)
 dbSNP gnomAD v3 gnomAD v4
5g.128357239G>ACA2675118753FBN2c.2674+37C>T (n.2674+37C>T)
c.2575+37C>T (n.2575+37C>T)
c.2671+37C>T (n.2671+37C>T)
c.2521+37C>T (n.2521+37C>T)
 gnomAD v4
5g.128357240T>CCA1581282238FBN2c.2674+36A>G (n.2674+36A>G)
c.2575+36A>G (n.2575+36A>G)
c.2671+36A>G (n.2671+36A>G)
c.2521+36A>G (n.2521+36A>G)
 dbSNP
5g.128357240T=CA1581282237FBN2c.2674+36A= (n.2674+36A=)
c.2575+36A= (n.2575+36A=)
c.2671+36A= (n.2671+36A=)
c.2521+36A= (n.2521+36A=)
5g.128357245T>CCA3395481FBN2c.2674+31A>G (n.2674+31A>G)
c.2575+31A>G (n.2575+31A>G)
c.2671+31A>G (n.2671+31A>G)
c.2521+31A>G (n.2521+31A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128357245T=CA1581282239FBN2c.2674+31A= (n.2674+31A=)
c.2575+31A= (n.2575+31A=)
c.2671+31A= (n.2671+31A=)
c.2521+31A= (n.2521+31A=)
5g.128357246T>GCA2675118754FBN2c.2674+30A>C (n.2674+30A>C)
c.2575+30A>C (n.2575+30A>C)
c.2671+30A>C (n.2671+30A>C)
c.2521+30A>C (n.2521+30A>C)
 gnomAD v4
5g.128357250G>TCA2578396480FBN2c.2674+26C>A (n.2674+26C>A)
c.2575+26C>A (n.2575+26C>A)
c.2671+26C>A (n.2671+26C>A)
c.2521+26C>A (n.2521+26C>A)
5g.128357252A=CA1581282240FBN2c.2674+24T= (n.2674+24T=)
c.2575+24T= (n.2575+24T=)
c.2671+24T= (n.2671+24T=)
c.2521+24T= (n.2521+24T=)
5g.128357252A>GCA3395482FBN2c.2674+24T>C (n.2674+24T>C)
c.2575+24T>C (n.2575+24T>C)
c.2671+24T>C (n.2671+24T>C)
c.2521+24T>C (n.2521+24T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128357253T>CCA562717643FBN2c.2674+23A>G (n.2674+23A>G)
c.2575+23A>G (n.2575+23A>G)
c.2671+23A>G (n.2671+23A>G)
c.2521+23A>G (n.2521+23A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.128357253T=CA1581282241FBN2c.2674+23A= (n.2674+23A=)
c.2575+23A= (n.2575+23A=)
c.2671+23A= (n.2671+23A=)
c.2521+23A= (n.2521+23A=)
5g.128357254C=CA1581282242FBN2c.2674+22G= (n.2674+22G=)
c.2575+22G= (n.2575+22G=)
c.2671+22G= (n.2671+22G=)
c.2521+22G= (n.2521+22G=)
5g.128357254C>TCA1581282243FBN2c.2674+22G>A (n.2674+22G>A)
c.2575+22G>A (n.2575+22G>A)
c.2671+22G>A (n.2671+22G>A)
c.2521+22G>A (n.2521+22G>A)
 dbSNP
5g.128357256G>TCA2675118755FBN2c.2674+20C>A (n.2674+20C>A)
c.2575+20C>A (n.2575+20C>A)
c.2671+20C>A (n.2671+20C>A)
c.2521+20C>A (n.2521+20C>A)
 gnomAD v4
5g.128357261G>TCA650270628FBN2c.2674+15C>A (n.2674+15C>A)
c.2575+15C>A (n.2575+15C>A)
c.2671+15C>A (n.2671+15C>A)
c.2521+15C>A (n.2521+15C>A)
 COSMIC
5g.128357262T>CCA562717644FBN2c.2674+14A>G (n.2674+14A>G)
c.2575+14A>G (n.2575+14A>G)
c.2671+14A>G (n.2671+14A>G)
c.2521+14A>G (n.2521+14A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.128357262T=CA1581282244FBN2c.2674+14A= (n.2674+14A=)
c.2575+14A= (n.2575+14A=)
c.2671+14A= (n.2671+14A=)
c.2521+14A= (n.2521+14A=)
5g.128357263G>ACA3395483FBN2c.2674+13C>T (n.2674+13C>T)
c.2575+13C>T (n.2575+13C>T)
c.2671+13C>T (n.2671+13C>T)
c.2521+13C>T (n.2521+13C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128357263G>CCA562717645FBN2c.2674+13C>G (n.2674+13C>G)
c.2575+13C>G (n.2575+13C>G)
c.2671+13C>G (n.2671+13C>G)
c.2521+13C>G (n.2521+13C>G)
 dbSNP gnomAD v2 gnomAD v4
5g.128357263G=CA1581282245FBN2c.2674+13C= (n.2674+13C=)
c.2575+13C= (n.2575+13C=)
c.2671+13C= (n.2671+13C=)
c.2521+13C= (n.2521+13C=)
5g.128357266T>CCA3395484FBN2c.2674+10A>G (n.2674+10A>G)
c.2575+10A>G (n.2575+10A>G)
c.2671+10A>G (n.2671+10A>G)
c.2521+10A>G (n.2521+10A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128357266T=CA1581282246FBN2c.2674+10A= (n.2674+10A=)
c.2575+10A= (n.2575+10A=)
c.2671+10A= (n.2671+10A=)
c.2521+10A= (n.2521+10A=)
5g.128357267delCA2499217545FBN2c.2674+9del (n.2674+9del)
c.2575+9del (n.2575+9del)
c.2671+9del (n.2671+9del)
c.2521+9del (n.2521+9del)
 ClinVar dbSNP
5g.128357268A>GCA2675118756FBN2c.2674+8T>C (n.2674+8T>C)
c.2575+8T>C (n.2575+8T>C)
c.2671+8T>C (n.2671+8T>C)
c.2521+8T>C (n.2521+8T>C)
 gnomAD v4
5g.128357269A=CA1581282247FBN2c.2674+7T= (n.2674+7T=)
c.2575+7T= (n.2575+7T=)
c.2671+7T= (n.2671+7T=)
c.2521+7T= (n.2521+7T=)
5g.128357269A>CCA2675118757FBN2c.2674+7T>G (n.2674+7T>G)
c.2575+7T>G (n.2575+7T>G)
c.2671+7T>G (n.2671+7T>G)
c.2521+7T>G (n.2521+7T>G)
 gnomAD v4
5g.128357269A>GCA562717646FBN2c.2674+7T>C (n.2674+7T>C)
c.2575+7T>C (n.2575+7T>C)
c.2671+7T>C (n.2671+7T>C)
c.2521+7T>C (n.2521+7T>C)
 dbSNP gnomAD v2 gnomAD v4
5g.128357270T>ACA2573139024FBN2c.2674+6A>T (n.2674+6A>T)
c.2575+6A>T (n.2575+6A>T)
c.2671+6A>T (n.2671+6A>T)
c.2521+6A>T (n.2521+6A>T)
 ClinVar dbSNP gnomAD v4
5g.128357270T>CCA562717647FBN2c.2674+6A>G (n.2674+6A>G)
c.2575+6A>G (n.2575+6A>G)
c.2671+6A>G (n.2671+6A>G)
c.2521+6A>G (n.2521+6A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.128357270T=CA1581282248FBN2c.2674+6A= (n.2674+6A=)
c.2575+6A= (n.2575+6A=)
c.2671+6A= (n.2671+6A=)
c.2521+6A= (n.2521+6A=)
5g.128357271C>GCA2675118758FBN2c.2674+5G>C (n.2674+5G>C)
c.2575+5G>C (n.2575+5G>C)
c.2671+5G>C (n.2671+5G>C)
c.2521+5G>C (n.2521+5G>C)
 gnomAD v4
5g.128357272T>ACA2578396481FBN2c.2674+4A>T (n.2674+4A>T)
c.2575+4A>T (n.2575+4A>T)
c.2671+4A>T (n.2671+4A>T)
c.2521+4A>T (n.2521+4A>T)
5g.128357274A>CCA360767229FBN2c.2674+2T>G (n.2674+2T>G)
c.2575+2T>G (n.2575+2T>G)
c.2671+2T>G (n.2671+2T>G)
c.2521+2T>G (n.2521+2T>G)
5g.128357274A>GCA360767230FBN2c.2674+2T>C (n.2674+2T>C)
c.2575+2T>C (n.2575+2T>C)
c.2671+2T>C (n.2671+2T>C)
c.2521+2T>C (n.2521+2T>C)
5g.128357274A>TCA360767232FBN2c.2674+2T>A (n.2674+2T>A)
c.2575+2T>A (n.2575+2T>A)
c.2671+2T>A (n.2671+2T>A)
c.2521+2T>A (n.2521+2T>A)
5g.128357275C>ACA360767233FBN2c.2674+1G>T (n.2674+1G>T)
c.2575+1G>T (n.2575+1G>T)
c.2671+1G>T (n.2671+1G>T)
c.2521+1G>T (n.2521+1G>T)
5g.128357275C>GCA360767235FBN2c.2674+1G>C (n.2674+1G>C)
c.2575+1G>C (n.2575+1G>C)
c.2671+1G>C (n.2671+1G>C)
c.2521+1G>C (n.2521+1G>C)
5g.128357275C>TCA360767236FBN2c.2674+1G>A (n.2674+1G>A)
c.2575+1G>A (n.2575+1G>A)
c.2671+1G>A (n.2671+1G>A)
c.2521+1G>A (n.2521+1G>A)
5g.128357276C>ACA360767238FBN2c.2674G>T (p.Asp892Tyr)
c.2575G>T (p.Asp859Tyr)
c.2671G>T (p.Asp891Tyr)
c.2521G>T (p.Asp841Tyr)
5g.128357276C>GCA360767240FBN2c.2674G>C (p.Asp892His)
c.2575G>C (p.Asp859His)
c.2671G>C (p.Asp891His)
c.2521G>C (p.Asp841His)
5g.128357276C>TCA360767242FBN2c.2674G>A (p.Asp892Asn)
c.2575G>A (p.Asp859Asn)
c.2671G>A (p.Asp891Asn)
c.2521G>A (p.Asp841Asn)
5g.128357277A>CCA360767245FBN2c.2673T>G (p.Ile891Met)
c.2574T>G (p.Ile858Met)
c.2670T>G (p.Ile890Met)
c.2520T>G (p.Ile840Met)
5g.128357277A>GCA446312298FBN2c.2673T>C (p.Ile891=)
c.2574T>C (p.Ile858=)
c.2670T>C (p.Ile890=)
c.2520T>C (p.Ile840=)
5g.128357277A>TCA446312299FBN2c.2673T>A (p.Ile891=)
c.2574T>A (p.Ile858=)
c.2670T>A (p.Ile890=)
c.2520T>A (p.Ile840=)
5g.128357278A>CCA360767246FBN2c.2672T>G (p.Ile891Ser)
c.2573T>G (p.Ile858Ser)
c.2669T>G (p.Ile890Ser)
c.2519T>G (p.Ile840Ser)
5g.128357278A>GCA360767248FBN2c.2672T>C (p.Ile891Thr)
c.2573T>C (p.Ile858Thr)
c.2669T>C (p.Ile890Thr)
c.2519T>C (p.Ile840Thr)
5g.128357278A>TCA360767250FBN2c.2672T>A (p.Ile891Asn)
c.2573T>A (p.Ile858Asn)
c.2669T>A (p.Ile890Asn)
c.2519T>A (p.Ile840Asn)
5g.128357279T>ACA360767252FBN2c.2671A>T (p.Ile891Phe)
c.2572A>T (p.Ile858Phe)
c.2668A>T (p.Ile890Phe)
c.2518A>T (p.Ile840Phe)
5g.128357279T>CCA360767255FBN2c.2671A>G (p.Ile891Val)
c.2572A>G (p.Ile858Val)
c.2668A>G (p.Ile890Val)
c.2518A>G (p.Ile840Val)
 dbSNP gnomAD v4 COSMIC COSMIC
5g.128357279T>GCA360767254FBN2c.2671A>C (p.Ile891Leu)
c.2572A>C (p.Ile858Leu)
c.2668A>C (p.Ile890Leu)
c.2518A>C (p.Ile840Leu)
5g.128357279T=CA1581282249FBN2c.2671A= (p.Ile891=)
c.2572A= (p.Ile858=)
c.2668A= (p.Ile890=)
c.2518A= (p.Ile840=)
5g.128357280A=CA1581282250FBN2c.2670T= (p.Cys890=)
c.2571T= (p.Cys857=)
c.2667T= (p.Cys889=)
c.2517T= (p.Cys839=)
5g.128357280A>CCA360767256FBN2c.2670T>G (p.Cys890Trp)
c.2571T>G (p.Cys857Trp)
c.2667T>G (p.Cys889Trp)
c.2517T>G (p.Cys839Trp)
5g.128357280A>GCA446312300FBN2c.2670T>C (p.Cys890=)
c.2571T>C (p.Cys857=)
c.2667T>C (p.Cys889=)
c.2517T>C (p.Cys839=)
 ClinVar dbSNP gnomAD v2
5g.128357280A>TCA360767257FBN2c.2670T>A (p.Cys890Ter)
c.2571T>A (p.Cys857Ter)
c.2667T>A (p.Cys889Ter)
c.2517T>A (p.Cys839Ter)
5g.128357281C>ACA360767259FBN2c.2669G>T (p.Cys890Phe)
c.2570G>T (p.Cys857Phe)
c.2666G>T (p.Cys889Phe)
c.2516G>T (p.Cys839Phe)
 gnomAD v4
5g.128357281C>GCA360767264FBN2c.2669G>C (p.Cys890Ser)
c.2570G>C (p.Cys857Ser)
c.2666G>C (p.Cys889Ser)
c.2516G>C (p.Cys839Ser)
5g.128357281C>TCA360767266FBN2c.2669G>A (p.Cys890Tyr)
c.2570G>A (p.Cys857Tyr)
c.2666G>A (p.Cys889Tyr)
c.2516G>A (p.Cys839Tyr)
 gnomAD v4
5g.128357282A=CA1581282251FBN2c.2668T= (p.Cys890=)
c.2569T= (p.Cys857=)
c.2665T= (p.Cys889=)
c.2515T= (p.Cys839=)
5g.128357282A>CCA360767268FBN2c.2668T>G (p.Cys890Gly)
c.2569T>G (p.Cys857Gly)
c.2665T>G (p.Cys889Gly)
c.2515T>G (p.Cys839Gly)
5g.128357282A>GCA360767270FBN2c.2668T>C (p.Cys890Arg)
c.2569T>C (p.Cys857Arg)
c.2665T>C (p.Cys889Arg)
c.2515T>C (p.Cys839Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.128357282A>TCA360767272FBN2c.2668T>A (p.Cys890Ser)
c.2569T>A (p.Cys857Ser)
c.2665T>A (p.Cys889Ser)
c.2515T>A (p.Cys839Ser)
5g.128357283G>ACA446312301FBN2c.2667C>T (p.Ile889=)
c.2568C>T (p.Ile856=)
c.2664C>T (p.Ile888=)
c.2514C>T (p.Ile838=)
5g.128357283G>CCA360767274FBN2c.2667C>G (p.Ile889Met)
c.2568C>G (p.Ile856Met)
c.2664C>G (p.Ile888Met)
c.2514C>G (p.Ile838Met)
5g.128357283G>TCA446312302FBN2c.2667C>A (p.Ile889=)
c.2568C>A (p.Ile856=)
c.2664C>A (p.Ile888=)
c.2514C>A (p.Ile838=)
5g.128357284A>CCA360767277FBN2c.2666T>G (p.Ile889Ser)
c.2567T>G (p.Ile856Ser)
c.2663T>G (p.Ile888Ser)
c.2513T>G (p.Ile838Ser)
5g.128357284A>GCA360767278FBN2c.2666T>C (p.Ile889Thr)
c.2567T>C (p.Ile856Thr)
c.2663T>C (p.Ile888Thr)
c.2513T>C (p.Ile838Thr)
5g.128357284A>TCA360767280FBN2c.2666T>A (p.Ile889Asn)
c.2567T>A (p.Ile856Asn)
c.2663T>A (p.Ile888Asn)
c.2513T>A (p.Ile838Asn)
5g.128357285T>ACA360767285FBN2c.2665A>T (p.Ile889Phe)
c.2566A>T (p.Ile856Phe)
c.2662A>T (p.Ile888Phe)
c.2512A>T (p.Ile838Phe)
 gnomAD v4
5g.128357285T>CCA360767282FBN2c.2665A>G (p.Ile889Val)
c.2566A>G (p.Ile856Val)
c.2662A>G (p.Ile888Val)
c.2512A>G (p.Ile838Val)
 gnomAD v4
5g.128357285T>GCA360767283FBN2c.2665A>C (p.Ile889Leu)
c.2566A>C (p.Ile856Leu)
c.2662A>C (p.Ile888Leu)
c.2512A>C (p.Ile838Leu)
5g.128357286C>ACA360767286FBN2c.2664G>T (p.Leu888Phe)
c.2565G>T (p.Leu855Phe)
c.2661G>T (p.Leu887Phe)
c.2511G>T (p.Leu837Phe)
5g.128357286C>GCA360767288FBN2c.2664G>C (p.Leu888Phe)
c.2565G>C (p.Leu855Phe)
c.2661G>C (p.Leu887Phe)
c.2511G>C (p.Leu837Phe)
5g.128357286C>TCA446312303FBN2c.2664G>A (p.Leu888=)
c.2565G>A (p.Leu855=)
c.2661G>A (p.Leu887=)
c.2511G>A (p.Leu837=)
 gnomAD v4
5g.128357287A>CCA360767290FBN2c.2663T>G (p.Leu888Trp)
c.2564T>G (p.Leu855Trp)
c.2660T>G (p.Leu887Trp)
c.2510T>G (p.Leu837Trp)
5g.128357287A>GCA360767292FBN2c.2663T>C (p.Leu888Ser)
c.2564T>C (p.Leu855Ser)
c.2660T>C (p.Leu887Ser)
c.2510T>C (p.Leu837Ser)
5g.128357287A>TCA360767293FBN2c.2663T>A (p.Leu888Ter)
c.2564T>A (p.Leu855Ter)
c.2660T>A (p.Leu887Ter)
c.2510T>A (p.Leu837Ter)
5g.128357288A=CA1581282252FBN2c.2662T= (p.Leu888=)
c.2563T= (p.Leu855=)
c.2659T= (p.Leu887=)
c.2509T= (p.Leu837=)
5g.128357288A>CCA360767294FBN2c.2662T>G (p.Leu888Val)
c.2563T>G (p.Leu855Val)
c.2659T>G (p.Leu887Val)
c.2509T>G (p.Leu837Val)
5g.128357288A>GCA446312304FBN2c.2662T>C (p.Leu888=)
c.2563T>C (p.Leu855=)
c.2659T>C (p.Leu887=)
c.2509T>C (p.Leu837=)
 dbSNP gnomAD v2 gnomAD v4
5g.128357288A>TCA360767295FBN2c.2662T>A (p.Leu888Met)
c.2563T>A (p.Leu855Met)
c.2659T>A (p.Leu887Met)
c.2509T>A (p.Leu837Met)
5g.128357289T>ACA446312306FBN2c.2661A>T (p.Gly887=)
c.2562A>T (p.Gly854=)
c.2658A>T (p.Gly886=)
c.2508A>T (p.Gly836=)
5g.128357289T>CCA3395485FBN2c.2661A>G (p.Gly887=)
c.2562A>G (p.Gly854=)
c.2658A>G (p.Gly886=)
c.2508A>G (p.Gly836=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128357289T>GCA446312305FBN2c.2661A>C (p.Gly887=)
c.2562A>C (p.Gly854=)
c.2658A>C (p.Gly886=)
c.2508A>C (p.Gly836=)
 dbSNP gnomAD v2 gnomAD v4
5g.128357289T=CA1581282253FBN2c.2661A= (p.Gly887=)
c.2562A= (p.Gly854=)
c.2658A= (p.Gly886=)
c.2508A= (p.Gly836=)
5g.128357290C>ACA360767296FBN2c.2660G>T (p.Gly887Val)
c.2561G>T (p.Gly854Val)
c.2657G>T (p.Gly886Val)
c.2507G>T (p.Gly836Val)
5g.128357290C=CA1581282254FBN2c.2660G= (p.Gly887=)
c.2561G= (p.Gly854=)
c.2657G= (p.Gly886=)
c.2507G= (p.Gly836=)
5g.128357290C>GCA3395486FBN2c.2660G>C (p.Gly887Ala)
c.2561G>C (p.Gly854Ala)
c.2657G>C (p.Gly886Ala)
c.2507G>C (p.Gly836Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128357290C>TCA360767297FBN2c.2660G>A (p.Gly887Glu)
c.2561G>A (p.Gly854Glu)
c.2657G>A (p.Gly886Glu)
c.2507G>A (p.Gly836Glu)
5g.128357291C>ACA360767299FBN2c.2659G>T (p.Gly887Ter)
c.2560G>T (p.Gly854Ter)
c.2656G>T (p.Gly886Ter)
c.2506G>T (p.Gly836Ter)
5g.128357291C=CA1581282255FBN2c.2659G= (p.Gly887=)
c.2560G= (p.Gly854=)
c.2656G= (p.Gly886=)
c.2506G= (p.Gly836=)
5g.128357291C>GCA360767300FBN2c.2659G>C (p.Gly887Arg)
c.2560G>C (p.Gly854Arg)
c.2656G>C (p.Gly886Arg)
c.2506G>C (p.Gly836Arg)
5g.128357291C>TCA360767298FBN2c.2659G>A (p.Gly887Arg)
c.2560G>A (p.Gly854Arg)
c.2656G>A (p.Gly886Arg)
c.2506G>A (p.Gly836Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.128357292T>ACA446312309FBN2c.2658A>T (p.Thr886=)
c.2559A>T (p.Thr853=)
c.2655A>T (p.Thr885=)
c.2505A>T (p.Thr835=)
5g.128357292T>CCA446312308FBN2c.2658A>G (p.Thr886=)
c.2559A>G (p.Thr853=)
c.2655A>G (p.Thr885=)
c.2505A>G (p.Thr835=)
 dbSNP
5g.128357292T>GCA446312307FBN2c.2658A>C (p.Thr886=)
c.2559A>C (p.Thr853=)
c.2655A>C (p.Thr885=)
c.2505A>C (p.Thr835=)
5g.128357292T=CA1581282256FBN2c.2658A= (p.Thr886=)
c.2559A= (p.Thr853=)
c.2655A= (p.Thr885=)
c.2505A= (p.Thr835=)
5g.128357293G>ACA360767305FBN2c.2657C>T (p.Thr886Ile)
c.2558C>T (p.Thr853Ile)
c.2654C>T (p.Thr885Ile)
c.2504C>T (p.Thr835Ile)
5g.128357293G>CCA360767302FBN2c.2657C>G (p.Thr886Arg)
c.2558C>G (p.Thr853Arg)
c.2654C>G (p.Thr885Arg)
c.2504C>G (p.Thr835Arg)
5g.128357293G>TCA360767303FBN2c.2657C>A (p.Thr886Lys)
c.2558C>A (p.Thr853Lys)
c.2654C>A (p.Thr885Lys)
c.2504C>A (p.Thr835Lys)
5g.128357294T>ACA360767307FBN2c.2656A>T (p.Thr886Ser)
c.2557A>T (p.Thr853Ser)
c.2653A>T (p.Thr885Ser)
c.2503A>T (p.Thr835Ser)
5g.128357294T>CCA360767308FBN2c.2656A>G (p.Thr886Ala)
c.2557A>G (p.Thr853Ala)
c.2653A>G (p.Thr885Ala)
c.2503A>G (p.Thr835Ala)
5g.128357294T>GCA360767309FBN2c.2656A>C (p.Thr886Pro)
c.2557A>C (p.Thr853Pro)
c.2653A>C (p.Thr885Pro)
c.2503A>C (p.Thr835Pro)
5g.128357295G>ACA446312310FBN2c.2655C>T (p.Ser885=)
c.2556C>T (p.Ser852=)
c.2652C>T (p.Ser884=)
c.2502C>T (p.Ser834=)
 gnomAD v4
5g.128357295G>CCA446312312FBN2c.2655C>G (p.Ser885=)
c.2556C>G (p.Ser852=)
c.2652C>G (p.Ser884=)
c.2502C>G (p.Ser834=)
5g.128357295G>TCA446312311FBN2c.2655C>A (p.Ser885=)
c.2556C>A (p.Ser852=)
c.2652C>A (p.Ser884=)
c.2502C>A (p.Ser834=)
5g.128357296G>ACA360767310FBN2c.2654C>T (p.Ser885Phe)
c.2555C>T (p.Ser852Phe)
c.2651C>T (p.Ser884Phe)
c.2501C>T (p.Ser834Phe)
5g.128357296G>CCA360767311FBN2c.2654C>G (p.Ser885Cys)
c.2555C>G (p.Ser852Cys)
c.2651C>G (p.Ser884Cys)
c.2501C>G (p.Ser834Cys)
 gnomAD v4
5g.128357296G=CA1581282257FBN2c.2654C= (p.Ser885=)
c.2555C= (p.Ser852=)
c.2651C= (p.Ser884=)
c.2501C= (p.Ser834=)
5g.128357296G>TCA127026841FBN2c.2654C>A (p.Ser885Tyr)
c.2555C>A (p.Ser852Tyr)
c.2651C>A (p.Ser884Tyr)
c.2501C>A (p.Ser834Tyr)
 dbSNP
5g.128357297A>CCA360767314FBN2c.2653T>G (p.Ser885Ala)
c.2554T>G (p.Ser852Ala)
c.2650T>G (p.Ser884Ala)
c.2500T>G (p.Ser834Ala)
5g.128357297A>GCA360767316FBN2c.2653T>C (p.Ser885Pro)
c.2554T>C (p.Ser852Pro)
c.2650T>C (p.Ser884Pro)
c.2500T>C (p.Ser834Pro)
5g.128357297A>TCA360767317FBN2c.2653T>A (p.Ser885Thr)
c.2554T>A (p.Ser852Thr)
c.2650T>A (p.Ser884Thr)
c.2500T>A (p.Ser834Thr)
5g.128357298G>ACA446312313FBN2c.2652C>T (p.Ser884=)
c.2553C>T (p.Ser851=)
c.2649C>T (p.Ser883=)
c.2499C>T (p.Ser833=)
 gnomAD v4
5g.128357298G>CCA360767319FBN2c.2652C>G (p.Ser884Arg)
c.2553C>G (p.Ser851Arg)
c.2649C>G (p.Ser883Arg)
c.2499C>G (p.Ser833Arg)
5g.128357298G>TCA360767321FBN2c.2652C>A (p.Ser884Arg)
c.2553C>A (p.Ser851Arg)
c.2649C>A (p.Ser883Arg)
c.2499C>A (p.Ser833Arg)
5g.128357299C>ACA360767322FBN2c.2651G>T (p.Ser884Ile)
c.2552G>T (p.Ser851Ile)
c.2648G>T (p.Ser883Ile)
c.2498G>T (p.Ser833Ile)
5g.128357299C=CA1581282258FBN2c.2651G= (p.Ser884=)
c.2552G= (p.Ser851=)
c.2648G= (p.Ser883=)
c.2498G= (p.Ser833=)
5g.128357299C>GCA322791FBN2c.2651G>C (p.Ser884Thr)
c.2552G>C (p.Ser851Thr)
c.2648G>C (p.Ser883Thr)
c.2498G>C (p.Ser833Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128357299C>TCA360767326FBN2c.2651G>A (p.Ser884Asn)
c.2552G>A (p.Ser851Asn)
c.2648G>A (p.Ser883Asn)
c.2498G>A (p.Ser833Asn)
 dbSNP
5g.128357300T>ACA360767329FBN2c.2650A>T (p.Ser884Cys)
c.2551A>T (p.Ser851Cys)
c.2647A>T (p.Ser883Cys)
c.2497A>T (p.Ser833Cys)
5g.128357300T>CCA360767330FBN2c.2650A>G (p.Ser884Gly)
c.2551A>G (p.Ser851Gly)
c.2647A>G (p.Ser883Gly)
c.2497A>G (p.Ser833Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128357300T>GCA360767331FBN2c.2650A>C (p.Ser884Arg)
c.2551A>C (p.Ser851Arg)
c.2647A>C (p.Ser883Arg)
c.2497A>C (p.Ser833Arg)
 gnomAD v4
5g.128357300T=CA1581282259FBN2c.2650A= (p.Ser884=)
c.2551A= (p.Ser851=)
c.2647A= (p.Ser883=)
c.2497A= (p.Ser833=)
5g.128357301G>ACA446312314FBN2c.2649C>T (p.Leu883=)
c.2550C>T (p.Leu850=)
c.2646C>T (p.Leu882=)
c.2496C>T (p.Leu832=)
5g.128357301G>CCA446312315FBN2c.2649C>G (p.Leu883=)
c.2550C>G (p.Leu850=)
c.2646C>G (p.Leu882=)
c.2496C>G (p.Leu832=)
 gnomAD v4
5g.128357301G>TCA446312316FBN2c.2649C>A (p.Leu883=)
c.2550C>A (p.Leu850=)
c.2646C>A (p.Leu882=)
c.2496C>A (p.Leu832=)
5g.128357302A>CCA360767332FBN2c.2648T>G (p.Leu883Arg)
c.2549T>G (p.Leu850Arg)
c.2645T>G (p.Leu882Arg)
c.2495T>G (p.Leu832Arg)
5g.128357302A>GCA360767333FBN2c.2648T>C (p.Leu883Pro)
c.2549T>C (p.Leu850Pro)
c.2645T>C (p.Leu882Pro)
c.2495T>C (p.Leu832Pro)
5g.128357302A>TCA360767334FBN2c.2648T>A (p.Leu883His)
c.2549T>A (p.Leu850His)
c.2645T>A (p.Leu882His)
c.2495T>A (p.Leu832His)
 ClinVar
5g.128357303G>ACA360767335FBN2c.2647C>T (p.Leu883Phe)
c.2548C>T (p.Leu850Phe)
c.2644C>T (p.Leu882Phe)
c.2494C>T (p.Leu832Phe)
5g.128357303G>CCA360767336FBN2c.2647C>G (p.Leu883Val)
c.2548C>G (p.Leu850Val)
c.2644C>G (p.Leu882Val)
c.2494C>G (p.Leu832Val)
5g.128357303G>TCA360767337FBN2c.2647C>A (p.Leu883Ile)
c.2548C>A (p.Leu850Ile)
c.2644C>A (p.Leu882Ile)
c.2494C>A (p.Leu832Ile)
5g.128357304T>ACA360767338FBN2c.2646A>T (p.Lys882Asn)
c.2547A>T (p.Lys849Asn)
c.2643A>T (p.Lys881Asn)
c.2493A>T (p.Lys831Asn)
5g.128357304T>CCA127026858FBN2c.2646A>G (p.Lys882=)
c.2547A>G (p.Lys849=)
c.2643A>G (p.Lys881=)
c.2493A>G (p.Lys831=)
 ClinVar dbSNP
5g.128357304T>GCA360767339FBN2c.2646A>C (p.Lys882Asn)
c.2547A>C (p.Lys849Asn)
c.2643A>C (p.Lys881Asn)
c.2493A>C (p.Lys831Asn)
 COSMIC COSMIC
5g.128357304T=CA1581282260FBN2c.2646A= (p.Lys882=)
c.2547A= (p.Lys849=)
c.2643A= (p.Lys881=)
c.2493A= (p.Lys831=)
5g.128357305T>ACA360767341FBN2c.2645A>T (p.Lys882Ile)
c.2546A>T (p.Lys849Ile)
c.2642A>T (p.Lys881Ile)
c.2492A>T (p.Lys831Ile)
5g.128357305T>CCA360767342FBN2c.2645A>G (p.Lys882Arg)
c.2546A>G (p.Lys849Arg)
c.2642A>G (p.Lys881Arg)
c.2492A>G (p.Lys831Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128357305T>GCA360767340FBN2c.2645A>C (p.Lys882Thr)
c.2546A>C (p.Lys849Thr)
c.2642A>C (p.Lys881Thr)
c.2492A>C (p.Lys831Thr)
 dbSNP gnomAD v3 gnomAD v4
5g.128357305T=CA1581282261FBN2c.2645A= (p.Lys882=)
c.2546A= (p.Lys849=)
c.2642A= (p.Lys881=)
c.2492A= (p.Lys831=)
5g.128357306T>ACA360767343FBN2c.2644A>T (p.Lys882Ter)
c.2545A>T (p.Lys849Ter)
c.2641A>T (p.Lys881Ter)
c.2491A>T (p.Lys831Ter)
5g.128357306T>CCA360767344FBN2c.2644A>G (p.Lys882Glu)
c.2545A>G (p.Lys849Glu)
c.2641A>G (p.Lys881Glu)
c.2491A>G (p.Lys831Glu)
5g.128357306T>GCA360767345FBN2c.2644A>C (p.Lys882Gln)
c.2545A>C (p.Lys849Gln)
c.2641A>C (p.Lys881Gln)
c.2491A>C (p.Lys831Gln)
 gnomAD v4
5g.128357307G>ACA446312317FBN2c.2643C>T (p.Ser881=)
c.2544C>T (p.Ser848=)
c.2640C>T (p.Ser880=)
c.2490C>T (p.Ser830=)
5g.128357307G>CCA360767346FBN2c.2643C>G (p.Ser881Arg)
c.2544C>G (p.Ser848Arg)
c.2640C>G (p.Ser880Arg)
c.2490C>G (p.Ser830Arg)
5g.128357307G>TCA360767347FBN2c.2643C>A (p.Ser881Arg)
c.2544C>A (p.Ser848Arg)
c.2640C>A (p.Ser880Arg)
c.2490C>A (p.Ser830Arg)
5g.128357308C>ACA360767350FBN2c.2642G>T (p.Ser881Ile)
c.2543G>T (p.Ser848Ile)
c.2639G>T (p.Ser880Ile)
c.2489G>T (p.Ser830Ile)
5g.128357308C>GCA360767349FBN2c.2642G>C (p.Ser881Thr)
c.2543G>C (p.Ser848Thr)
c.2639G>C (p.Ser880Thr)
c.2489G>C (p.Ser830Thr)
5g.128357308C>TCA360767348FBN2c.2642G>A (p.Ser881Asn)
c.2543G>A (p.Ser848Asn)
c.2639G>A (p.Ser880Asn)
c.2489G>A (p.Ser830Asn)
5g.128357309T>ACA360767351FBN2c.2641A>T (p.Ser881Cys)
c.2542A>T (p.Ser848Cys)
c.2638A>T (p.Ser880Cys)
c.2488A>T (p.Ser830Cys)
5g.128357309T>CCA127026863FBN2c.2641A>G (p.Ser881Gly)
c.2542A>G (p.Ser848Gly)
c.2638A>G (p.Ser880Gly)
c.2488A>G (p.Ser830Gly)
 dbSNP gnomAD v3 gnomAD v4
5g.128357309T>GCA360767352FBN2c.2641A>C (p.Ser881Arg)
c.2542A>C (p.Ser848Arg)
c.2638A>C (p.Ser880Arg)
c.2488A>C (p.Ser830Arg)
5g.128357309T=CA1581282262FBN2c.2641A= (p.Ser881=)
c.2542A= (p.Ser848=)
c.2638A= (p.Ser880=)
c.2488A= (p.Ser830=)
5g.128357310G>ACA446312318FBN2c.2640C>T (p.Gly880=)
c.2541C>T (p.Gly847=)
c.2637C>T (p.Gly879=)
c.2487C>T (p.Gly829=)
 gnomAD v4 COSMIC COSMIC
5g.128357310G>CCA446312319FBN2c.2640C>G (p.Gly880=)
c.2541C>G (p.Gly847=)
c.2637C>G (p.Gly879=)
c.2487C>G (p.Gly829=)
5g.128357310G>TCA446312320FBN2c.2640C>A (p.Gly880=)
c.2541C>A (p.Gly847=)
c.2637C>A (p.Gly879=)
c.2487C>A (p.Gly829=)
5g.128357311C>ACA360767353FBN2c.2639G>T (p.Gly880Val)
c.2540G>T (p.Gly847Val)
c.2636G>T (p.Gly879Val)
c.2486G>T (p.Gly829Val)
5g.128357311C=CA1581282263FBN2c.2639G= (p.Gly880=)
c.2540G= (p.Gly847=)
c.2636G= (p.Gly879=)
c.2486G= (p.Gly829=)
5g.128357311C>GCA360767354FBN2c.2639G>C (p.Gly880Ala)
c.2540G>C (p.Gly847Ala)
c.2636G>C (p.Gly879Ala)
c.2486G>C (p.Gly829Ala)
5g.128357311C>TCA3395487FBN2c.2639G>A (p.Gly880Asp)
c.2540G>A (p.Gly847Asp)
c.2636G>A (p.Gly879Asp)
c.2486G>A (p.Gly829Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.128357312C>ACA360767355FBN2c.2638G>T (p.Gly880Cys)
c.2539G>T (p.Gly847Cys)
c.2635G>T (p.Gly879Cys)
c.2485G>T (p.Gly829Cys)
5g.128357312C=CA1581282264FBN2c.2638G= (p.Gly880=)
c.2539G= (p.Gly847=)
c.2635G= (p.Gly879=)
c.2485G= (p.Gly829=)
5g.128357312C>GCA360767356FBN2c.2638G>C (p.Gly880Arg)
c.2539G>C (p.Gly847Arg)
c.2635G>C (p.Gly879Arg)
c.2485G>C (p.Gly829Arg)
5g.128357312C>TCA3395488FBN2c.2638G>A (p.Gly880Ser)
c.2539G>A (p.Gly847Ser)
c.2635G>A (p.Gly879Ser)
c.2485G>A (p.Gly829Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128357313G>ACA446312321FBN2c.2637C>T (p.Pro879=)
c.2538C>T (p.Pro846=)
c.2634C>T (p.Pro878=)
c.2484C>T (p.Pro828=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128357313G>CCA446312322FBN2c.2637C>G (p.Pro879=)
c.2538C>G (p.Pro846=)
c.2634C>G (p.Pro878=)
c.2484C>G (p.Pro828=)
5g.128357313G=CA1581282265FBN2c.2637C= (p.Pro879=)
c.2538C= (p.Pro846=)
c.2634C= (p.Pro878=)
c.2484C= (p.Pro828=)
5g.128357313G>TCA446312323FBN2c.2637C>A (p.Pro879=)
c.2538C>A (p.Pro846=)
c.2634C>A (p.Pro878=)
c.2484C>A (p.Pro828=)
 COSMIC COSMIC
5g.128357314G>ACA360767357FBN2c.2636C>T (p.Pro879Leu)
c.2537C>T (p.Pro846Leu)
c.2633C>T (p.Pro878Leu)
c.2483C>T (p.Pro828Leu)
5g.128357314G>CCA360767358FBN2c.2636C>G (p.Pro879Arg)
c.2537C>G (p.Pro846Arg)
c.2633C>G (p.Pro878Arg)
c.2483C>G (p.Pro828Arg)
5g.128357314G>TCA360767359FBN2c.2636C>A (p.Pro879His)
c.2537C>A (p.Pro846His)
c.2633C>A (p.Pro878His)
c.2483C>A (p.Pro828His)
5g.128357315G>ACA127026875FBN2c.2635C>T (p.Pro879Ser)
c.2536C>T (p.Pro846Ser)
c.2632C>T (p.Pro878Ser)
c.2482C>T (p.Pro828Ser)
 dbSNP
5g.128357315G>CCA360767360FBN2c.2635C>G (p.Pro879Ala)
c.2536C>G (p.Pro846Ala)
c.2632C>G (p.Pro878Ala)
c.2482C>G (p.Pro828Ala)
5g.128357315G=CA1581282266FBN2c.2635C= (p.Pro879=)
c.2536C= (p.Pro846=)
c.2632C= (p.Pro878=)
c.2482C= (p.Pro828=)
5g.128357315G>TCA360767361FBN2c.2635C>A (p.Pro879Thr)
c.2536C>A (p.Pro846Thr)
c.2632C>A (p.Pro878Thr)
c.2482C>A (p.Pro828Thr)
5g.128357316C>ACA16611689FBN2c.2634G>T (p.Ser878=)
c.2535G>T (p.Ser845=)
c.2631G>T (p.Ser877=)
c.2481G>T (p.Ser827=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128357316C=CA1581282267FBN2c.2634G= (p.Ser878=)
c.2535G= (p.Ser845=)
c.2631G= (p.Ser877=)
c.2481G= (p.Ser827=)
5g.128357316C>GCA446312324FBN2c.2634G>C (p.Ser878=)
c.2535G>C (p.Ser845=)
c.2631G>C (p.Ser877=)
c.2481G>C (p.Ser827=)
5g.128357316C>TCA3395489FBN2c.2634G>A (p.Ser878=)
c.2535G>A (p.Ser845=)
c.2631G>A (p.Ser877=)
c.2481G>A (p.Ser827=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128357317G>ACA3395490FBN2c.2633C>T (p.Ser878Leu)
c.2534C>T (p.Ser845Leu)
c.2630C>T (p.Ser877Leu)
c.2480C>T (p.Ser827Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128357317G>CCA360767362FBN2c.2633C>G (p.Ser878Trp)
c.2534C>G (p.Ser845Trp)
c.2630C>G (p.Ser877Trp)
c.2480C>G (p.Ser827Trp)
5g.128357317G=CA1581282268FBN2c.2633C= (p.Ser878=)
c.2534C= (p.Ser845=)
c.2630C= (p.Ser877=)
c.2480C= (p.Ser827=)
5g.128357317G>TCA360767363FBN2c.2633C>A (p.Ser878Ter)
c.2534C>A (p.Ser845Ter)
c.2630C>A (p.Ser877Ter)
c.2480C>A (p.Ser827Ter)
5g.128357318A>CCA360767364FBN2c.2632T>G (p.Ser878Ala)
c.2533T>G (p.Ser845Ala)
c.2629T>G (p.Ser877Ala)
c.2479T>G (p.Ser827Ala)
5g.128357318A>GCA360767365FBN2c.2632T>C (p.Ser878Pro)
c.2533T>C (p.Ser845Pro)
c.2629T>C (p.Ser877Pro)
c.2479T>C (p.Ser827Pro)
5g.128357318A>TCA360767366FBN2c.2632T>A (p.Ser878Thr)
c.2533T>A (p.Ser845Thr)
c.2629T>A (p.Ser877Thr)
c.2479T>A (p.Ser827Thr)
5g.128357319A=CA1581282269FBN2c.2631T= (p.Cys877=)
c.2532T= (p.Cys844=)
c.2628T= (p.Cys876=)
c.2478T= (p.Cys826=)
5g.128357319A>CCA360767368FBN2c.2631T>G (p.Cys877Trp)
c.2532T>G (p.Cys844Trp)
c.2628T>G (p.Cys876Trp)
c.2478T>G (p.Cys826Trp)
5g.128357319A>GCA446312325FBN2c.2631T>C (p.Cys877=)
c.2532T>C (p.Cys844=)
c.2628T>C (p.Cys876=)
c.2478T>C (p.Cys826=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.128357319A>TCA360767367FBN2c.2631T>A (p.Cys877Ter)
c.2532T>A (p.Cys844Ter)
c.2628T>A (p.Cys876Ter)
c.2478T>A (p.Cys826Ter)
5g.128357320C>ACA360767369FBN2c.2630G>T (p.Cys877Phe)
c.2531G>T (p.Cys844Phe)
c.2627G>T (p.Cys876Phe)
c.2477G>T (p.Cys826Phe)
5g.128357320C=CA1581282270FBN2c.2630G= (p.Cys877=)
c.2531G= (p.Cys844=)
c.2627G= (p.Cys876=)
c.2477G= (p.Cys826=)
5g.128357320C>GCA3395491FBN2c.2630G>C (p.Cys877Ser)
c.2531G>C (p.Cys844Ser)
c.2627G>C (p.Cys876Ser)
c.2477G>C (p.Cys826Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128357320C>TCA360767370FBN2c.2630G>A (p.Cys877Tyr)
c.2531G>A (p.Cys844Tyr)
c.2627G>A (p.Cys876Tyr)
c.2477G>A (p.Cys826Tyr)
5g.128357321A>CCA360767371FBN2c.2629T>G (p.Cys877Gly)
c.2530T>G (p.Cys844Gly)
c.2626T>G (p.Cys876Gly)
c.2476T>G (p.Cys826Gly)
5g.128357321A>GCA360767372FBN2c.2629T>C (p.Cys877Arg)
c.2530T>C (p.Cys844Arg)
c.2626T>C (p.Cys876Arg)
c.2476T>C (p.Cys826Arg)
5g.128357321A>TCA360767373FBN2c.2629T>A (p.Cys877Ser)
c.2530T>A (p.Cys844Ser)
c.2626T>A (p.Cys876Ser)
c.2476T>A (p.Cys826Ser)
5g.128357322T>ACA360767374FBN2c.2628A>T (p.Glu876Asp)
c.2529A>T (p.Glu843Asp)
c.2625A>T (p.Glu875Asp)
c.2475A>T (p.Glu825Asp)
5g.128357322T>CCA3395492FBN2c.2628A>G (p.Glu876=)
c.2529A>G (p.Glu843=)
c.2625A>G (p.Glu875=)
c.2475A>G (p.Glu825=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128357322T>GCA360767375FBN2c.2628A>C (p.Glu876Asp)
c.2529A>C (p.Glu843Asp)
c.2625A>C (p.Glu875Asp)
c.2475A>C (p.Glu825Asp)
5g.128357322T=CA1581282271FBN2c.2628A= (p.Glu876=)
c.2529A= (p.Glu843=)
c.2625A= (p.Glu875=)
c.2475A= (p.Glu825=)

Number of alleles fetched