Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.48474467A=CA2175495709FBN1c.4087+61T= (n.4087+61T=)
n.2761+61T=
c.759+61T= (n.759+61T=)
15g.48474467A>GCA2175495711FBN1c.4087+61T>C (n.4087+61T>C)
n.2761+61T>C
c.759+61T>C (n.759+61T>C)
 dbSNP
15g.48474468T>ACA2628334509FBN1c.4087+60A>T (n.4087+60A>T)
n.2761+60A>T
c.759+60A>T (n.759+60A>T)
 gnomAD v4
15g.48474468T>CCA2628334510FBN1c.4087+60A>G (n.4087+60A>G)
n.2761+60A>G
c.759+60A>G (n.759+60A>G)
 gnomAD v4
15g.48474471delCA2628334508FBN1c.4087+60del (n.4087+60del)
n.2761+60del
c.759+60del (n.759+60del)
 gnomAD v4
15g.48474471T>CCA2628334511FBN1c.4087+57A>G (n.4087+57A>G)
n.2761+57A>G
c.759+57A>G (n.759+57A>G)
 gnomAD v4
15g.48474472C>TCA2628334512FBN1c.4087+56G>A (n.4087+56G>A)
n.2761+56G>A
c.759+56G>A (n.759+56G>A)
 gnomAD v4
15g.48474473A>GCA2628334513FBN1c.4087+55T>C (n.4087+55T>C)
n.2761+55T>C
c.759+55T>C (n.759+55T>C)
 gnomAD v4
15g.48474474T>ACA2628334514FBN1c.4087+54A>T (n.4087+54A>T)
n.2761+54A>T
c.759+54A>T (n.759+54A>T)
 gnomAD v4
15g.48474474T>CCA2575717247FBN1c.4087+54A>G (n.4087+54A>G)
n.2761+54A>G
c.759+54A>G (n.759+54A>G)
15g.48474476T>ACA2628334515FBN1c.4087+52A>T (n.4087+52A>T)
n.2761+52A>T
c.759+52A>T (n.759+52A>T)
 gnomAD v4
15g.48474476T>CCA2628334516FBN1c.4087+52A>G (n.4087+52A>G)
n.2761+52A>G
c.759+52A>G (n.759+52A>G)
 gnomAD v4
15g.48474477G>TCA2628334517FBN1c.4087+51C>A (n.4087+51C>A)
n.2761+51C>A
c.759+51C>A (n.759+51C>A)
 gnomAD v4
15g.48474478T>GCA617833893FBN1c.4087+50A>C (n.4087+50A>C)
n.2761+50A>C
c.759+50A>C (n.759+50A>C)
 dbSNP gnomAD v2 gnomAD v4
15g.48474478T=CA2175495715FBN1c.4087+50A= (n.4087+50A=)
n.2761+50A=
c.759+50A= (n.759+50A=)
15g.48474479G>ACA617833894FBN1c.4087+49C>T (n.4087+49C>T)
n.2761+49C>T
c.759+49C>T (n.759+49C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48474479G=CA2175495719FBN1c.4087+49C= (n.4087+49C=)
n.2761+49C=
c.759+49C= (n.759+49C=)
15g.48474480T>CCA2628334518FBN1c.4087+48A>G (n.4087+48A>G)
n.2761+48A>G
c.759+48A>G (n.759+48A>G)
 gnomAD v4
15g.48474481_48474482insTTATTGGTTTTAAATACCACCCTTTCTGTTAATAATGCA2519040556FBN1c.4087+46_4087+47insCATTATTAACAGAAAGGGTGGTATTTAAAACCAATAA (n.4087+46_4087+47insCATTATTAACAGAAAGGGTGGTATTTAAAACCAATAA)
n.2761+46_2761+47insCATTATTAACAGAAAGGGTGGTATTTAAAACCAATAA
c.759+46_759+47insCATTATTAACAGAAAGGGTGGTATTTAAAACCAATAA (n.759+46_759+47insCATTATTAACAGAAAGGGTGGTATTTAAAACCAATAA)
15g.48474482A=CA2175495723FBN1c.4087+46T= (n.4087+46T=)
n.2761+46T=
c.759+46T= (n.759+46T=)
15g.48474482A>GCA052015FBN1c.4087+46T>C (n.4087+46T>C)
n.2761+46T>C
c.759+46T>C (n.759+46T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48474483T>ACA2581214163FBN1c.4087+45A>T (n.4087+45A>T)
n.2761+45A>T
c.759+45A>T (n.759+45A>T)
15g.48474483T>CCA052007FBN1c.4087+45A>G (n.4087+45A>G)
n.2761+45A>G
c.759+45A>G (n.759+45A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48474483T>GCA2581214162FBN1c.4087+45A>C (n.4087+45A>C)
n.2761+45A>C
c.759+45A>C (n.759+45A>C)
15g.48474483T=CA2175495731FBN1c.4087+45A= (n.4087+45A=)
n.2761+45A=
c.759+45A= (n.759+45A=)
15g.48474485T>CCA052000FBN1c.4087+43A>G (n.4087+43A>G)
n.2761+43A>G
c.759+43A>G (n.759+43A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48474485T=CA2175495735FBN1c.4087+43A= (n.4087+43A=)
n.2761+43A=
c.759+43A= (n.759+43A=)
15g.48474486A>GCA2628334519FBN1c.4087+42T>C (n.4087+42T>C)
n.2761+42T>C
c.759+42T>C (n.759+42T>C)
 gnomAD v4
15g.48474487T>CCA051993FBN1c.4087+41A>G (n.4087+41A>G)
n.2761+41A>G
c.759+41A>G (n.759+41A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48474487T=CA2175495742FBN1c.4087+41A= (n.4087+41A=)
n.2761+41A=
c.759+41A= (n.759+41A=)
15g.48474488G>TCA2628334520FBN1c.4087+40C>A (n.4087+40C>A)
n.2761+40C>A
c.759+40C>A (n.759+40C>A)
 gnomAD v4
15g.48474489C=CA2175495744FBN1c.4087+39G= (n.4087+39G=)
n.2761+39G=
c.759+39G= (n.759+39G=)
15g.48474489C>TCA051990FBN1c.4087+39G>A (n.4087+39G>A)
n.2761+39G>A
c.759+39G>A (n.759+39G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48474492T>ACA2575717263FBN1c.4087+36A>T (n.4087+36A>T)
n.2761+36A>T
c.759+36A>T (n.759+36A>T)
15g.48474492T>CCA617833900FBN1c.4087+36A>G (n.4087+36A>G)
n.2761+36A>G
c.759+36A>G (n.759+36A>G)
 dbSNP gnomAD v2
15g.48474492T=CA2175495748FBN1c.4087+36A= (n.4087+36A=)
n.2761+36A=
c.759+36A= (n.759+36A=)
15g.48474492_48474503delinsTCCTTGATAAGCCA2175495749FBN1c.4087+25_4087+36delinsGCTTATCAAGGA (n.4087+25_4087+36delinsGCTTATCAAGGA)
n.2761+25_2761+36delinsGCTTATCAAGGA
c.759+25_759+36delinsGCTTATCAAGGA (n.759+25_759+36delinsGCTTATCAAGGA)
15g.48474493C>ACA2575717267FBN1c.4087+35G>T (n.4087+35G>T)
n.2761+35G>T
c.759+35G>T (n.759+35G>T)
15g.48474493_48474503delCA2175495752FBN1c.4087+25_4087+35del (n.4087+25_4087+35del)
n.2761+25_2761+35del
c.759+25_759+35del (n.759+25_759+35del)
 dbSNP gnomAD v4
15g.48474494C>ACA2575717269FBN1c.4087+34G>T (n.4087+34G>T)
n.2761+34G>T
c.759+34G>T (n.759+34G>T)
15g.48474494C>TCA2628334521FBN1c.4087+34G>A (n.4087+34G>A)
n.2761+34G>A
c.759+34G>A (n.759+34G>A)
 gnomAD v4
15g.48474497G>ACA2628334522FBN1c.4087+31C>T (n.4087+31C>T)
n.2761+31C>T
c.759+31C>T (n.759+31C>T)
 gnomAD v4
15g.48474499T>ACA2628334523FBN1c.4087+29A>T (n.4087+29A>T)
n.2761+29A>T
c.759+29A>T (n.759+29A>T)
 dbSNP gnomAD v4
15g.48474499T>CCA2575717271FBN1c.4087+29A>G (n.4087+29A>G)
n.2761+29A>G
c.759+29A>G (n.759+29A>G)
15g.48474499T>GCA713414292FBN1c.4087+29A>C (n.4087+29A>C)
n.2761+29A>C
c.759+29A>C (n.759+29A>C)
 dbSNP gnomAD v3 gnomAD v4
15g.48474499T=CA2175495753FBN1c.4087+29A= (n.4087+29A=)
n.2761+29A=
c.759+29A= (n.759+29A=)
15g.48474501A>GCA2628334524FBN1c.4087+27T>C (n.4087+27T>C)
n.2761+27T>C
c.759+27T>C (n.759+27T>C)
 gnomAD v4
15g.48474503C>ACA2741424793FBN1c.4087+25G>T (n.4087+25G>T)
n.2761+25G>T
c.759+25G>T (n.759+25G>T)
15g.48474503C>TCA2628334525FBN1c.4087+25G>A (n.4087+25G>A)
n.2761+25G>A
c.759+25G>A (n.759+25G>A)
 gnomAD v4
15g.48474504A>CCA2741424796FBN1c.4087+24T>G (n.4087+24T>G)
n.2761+24T>G
c.759+24T>G (n.759+24T>G)
15g.48474504A>GCA2730866940FBN1c.4087+24T>C (n.4087+24T>C)
n.2761+24T>C
c.759+24T>C (n.759+24T>C)
 dbSNP
15g.48474506C=CA2175495756FBN1c.4087+22G= (n.4087+22G=)
n.2761+22G=
c.759+22G= (n.759+22G=)
15g.48474506C>GCA2628334526FBN1c.4087+22G>C (n.4087+22G>C)
n.2761+22G>C
c.759+22G>C (n.759+22G>C)
 gnomAD v4
15g.48474506C>TCA713414296FBN1c.4087+22G>A (n.4087+22G>A)
n.2761+22G>A
c.759+22G>A (n.759+22G>A)
 dbSNP gnomAD v3 gnomAD v4
15g.48474507C>ACA051980FBN1c.4087+21G>T (n.4087+21G>T)
n.2761+21G>T
c.759+21G>T (n.759+21G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48474507C=CA2175495759FBN1c.4087+21G= (n.4087+21G=)
n.2761+21G=
c.759+21G= (n.759+21G=)
15g.48474514A>TCA2628334527FBN1c.4087+14T>A (n.4087+14T>A)
n.2761+14T>A
c.759+14T>A (n.759+14T>A)
 gnomAD v4
15g.48474516T>CCA2575717272FBN1c.4087+12A>G (n.4087+12A>G)
n.2761+12A>G
c.759+12A>G (n.759+12A>G)
15g.48474520C=CA2175495768FBN1c.4087+8G= (n.4087+8G=)
n.2761+8G=
c.759+8G= (n.759+8G=)
15g.48474520C>TCA2175495771FBN1c.4087+8G>A (n.4087+8G>A)
n.2761+8G>A
c.759+8G>A (n.759+8G>A)
 dbSNP gnomAD v4
15g.48474522A=CA2175495775FBN1c.4087+6T= (n.4087+6T=)
n.2761+6T=
c.759+6T= (n.759+6T=)
15g.48474522A>GCA269520510FBN1c.4087+6T>C (n.4087+6T>C)
n.2761+6T>C
c.759+6T>C (n.759+6T>C)
 dbSNP
15g.48474522A>TCA658798359FBN1c.4087+6T>A (n.4087+6T>A)
n.2761+6T>A
c.759+6T>A (n.759+6T>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.48474523C=CA2175495809FBN1c.4087+5G= (n.4087+5G=)
n.2761+5G=
c.759+5G= (n.759+5G=)
15g.48474523C>TCA658824322FBN1c.4087+5G>A (n.4087+5G>A)
n.2761+5G>A
c.759+5G>A (n.759+5G>A)
 ClinVar dbSNP
15g.48474524T>CCA2695220635FBN1c.4087+4A>G (n.4087+4A>G)
n.2761+4A>G
c.759+4A>G (n.759+4A>G)
15g.48474525C>GCA2695220636FBN1c.4087+3G>C (n.4087+3G>C)
n.2761+3G>C
c.759+3G>C (n.759+3G>C)
15g.48474526A>CCA392320390FBN1c.4087+2T>G (n.4087+2T>G)
n.2761+2T>G
c.759+2T>G (n.759+2T>G)
15g.48474526A>GCA392320391FBN1c.4087+2T>C (n.4087+2T>C)
n.2761+2T>C
c.759+2T>C (n.759+2T>C)
15g.48474526A>TCA392320392FBN1c.4087+2T>A (n.4087+2T>A)
n.2761+2T>A
c.759+2T>A (n.759+2T>A)
15g.48474527C>ACA392320393FBN1c.4087+1G>T (n.4087+1G>T)
n.2761+1G>T
c.759+1G>T (n.759+1G>T)
15g.48474527C=CA2175495814FBN1c.4087+1G= (n.4087+1G=)
n.2761+1G=
c.759+1G= (n.759+1G=)
15g.48474527C>GCA392320394FBN1c.4087+1G>C (n.4087+1G>C)
n.2761+1G>C
c.759+1G>C (n.759+1G>C)
15g.48474527C>TCA014744FBN1c.4087+1G>A (n.4087+1G>A)
n.2761+1G>A
c.759+1G>A (n.759+1G>A)
 ClinVar dbSNP
15g.48474528C>ACA392320395FBN1c.4087G>T (p.Asp1363Tyr)
n.2761G>T
c.759G>T (p.Leu253=)
 ClinVar
15g.48474528C>GCA392320396FBN1c.4087G>C (p.Asp1363His)
n.2761G>C
c.759G>C (p.Leu253=)
15g.48474528C>TCA392320397FBN1c.4087G>A (p.Asp1363Asn)
n.2761G>A
c.759G>A (p.Leu253=)
 ClinVar
15g.48474529A>CCA490015171FBN1c.4086T>G (p.Thr1362=)
n.2760T>G
c.758T>G (p.Leu253Arg)
15g.48474529A>GCA490015172FBN1c.4086T>C (p.Thr1362=)
n.2760T>C
c.758T>C (p.Leu253Pro)
 gnomAD v4
15g.48474529A>TCA490015173FBN1c.4086T>A (p.Thr1362=)
n.2760T>A
c.758T>A (p.Leu253Gln)
15g.48474530G>ACA392320400FBN1c.4085C>T (p.Thr1362Ile)
n.2759C>T
c.757C>T (p.Leu253=)
15g.48474530G>CCA392320399FBN1c.4085C>G (p.Thr1362Ser)
n.2759C>G
c.757C>G (p.Leu253Val)
 ClinVar
15g.48474530G>TCA392320398FBN1c.4085C>A (p.Thr1362Asn)
n.2759C>A
c.757C>A (p.Leu253Met)
15g.48474531T>ACA392320403FBN1c.4084A>T (p.Thr1362Ser)
n.2758A>T
c.756A>T (p.Ala252=)
15g.48474531T>CCA392320401FBN1c.4084A>G (p.Thr1362Ala)
n.2758A>G
c.756A>G (p.Ala252=)
15g.48474531T>GCA392320402FBN1c.4084A>C (p.Thr1362Pro)
n.2758A>C
c.756A>C (p.Ala252=)
 ClinVar dbSNP
15g.48474531T=CA2175495821FBN1c.4084A= (p.Thr1362=)
n.2758A=
c.756A= (p.Ala252=)
15g.48474532G>ACA490015178FBN1c.4083C>T (p.Cys1361=)
n.2757C>T
c.755C>T (p.Ala252Val)
15g.48474532G>CCA392320404FBN1c.4083C>G (p.Cys1361Trp)
n.2757C>G
c.755C>G (p.Ala252Gly)
15g.48474532G>TCA392320405FBN1c.4083C>A (p.Cys1361Ter)
n.2757C>A
c.755C>A (p.Ala252Glu)
15g.48474533C>ACA392320406FBN1c.4082G>T (p.Cys1361Phe)
n.2756G>T
c.754G>T (p.Ala252Ser)
15g.48474533C=CA2175495827FBN1c.4082G= (p.Cys1361=)
n.2756G=
c.754G= (p.Ala252=)
15g.48474533C>GCA392320407FBN1c.4082G>C (p.Cys1361Ser)
n.2756G>C
c.754G>C (p.Ala252Pro)
15g.48474533C>TCA392320408FBN1c.4082G>A (p.Cys1361Tyr)
n.2756G>A
c.754G>A (p.Ala252Thr)
 ClinVar dbSNP
15g.48474533_48474534delinsTTCA2695220637FBN1c.4081_4082delinsAA (p.Cys1361Asn)
n.2755_2756delinsAA
c.753_754delinsAA (p.Ser251_Ala252delinsArgThr)
15g.48474534A=CA2175495838FBN1c.4081T= (p.Cys1361=)
n.2755T=
c.753T= (p.Ser251=)
15g.48474534A>CCA392320409FBN1c.4081T>G (p.Cys1361Gly)
n.2755T>G
c.753T>G (p.Ser251Arg)
15g.48474534A>GCA392320410FBN1c.4081T>C (p.Cys1361Arg)
n.2755T>C
c.753T>C (p.Ser251=)
 ClinVar dbSNP
15g.48474534A>TCA392320411FBN1c.4081T>A (p.Cys1361Ser)
n.2755T>A
c.753T>A (p.Ser251Arg)
15g.48474535C>ACA392320412FBN1c.4080G>T (p.Lys1360Asn)
n.2754G>T
c.752G>T (p.Ser251Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.48474535C=CA2175495842FBN1c.4080G= (p.Lys1360=)
n.2754G=
c.752G= (p.Ser251=)
15g.48474535C>GCA392320413FBN1c.4080G>C (p.Lys1360Asn)
n.2754G>C
c.752G>C (p.Ser251Thr)
15g.48474535C>TCA490015179FBN1c.4080G>A (p.Lys1360=)
n.2754G>A
c.752G>A (p.Ser251Asn)
15g.48474536T>ACA392320415FBN1c.4079A>T (p.Lys1360Met)
n.2753A>T
c.751A>T (p.Ser251Cys)
15g.48474536T>CCA392320416FBN1c.4079A>G (p.Lys1360Arg)
n.2753A>G
c.751A>G (p.Ser251Gly)
15g.48474536T>GCA392320414FBN1c.4079A>C (p.Lys1360Thr)
n.2753A>C
c.751A>C (p.Ser251Arg)
15g.48474537delCA2573150844FBN1c.4079del (p.Lys1360SerfsTer?)
n.2753del
c.751del (p.Ser251ValfsTer3)
 ClinVar dbSNP
15g.48474537T>ACA392320417FBN1c.4078A>T (p.Lys1360Ter)
n.2752A>T
c.750A>T (p.Leu250Phe)
15g.48474537T>CCA392320418FBN1c.4078A>G (p.Lys1360Glu)
n.2752A>G
c.750A>G (p.Leu250=)
 dbSNP gnomAD v2
15g.48474537T>GCA392320419FBN1c.4078A>C (p.Lys1360Gln)
n.2752A>C
c.750A>C (p.Leu250Phe)
15g.48474537T=CA2175495849FBN1c.4078A= (p.Lys1360=)
n.2752A=
c.750A= (p.Leu250=)
15g.48474538A=CA2175495869FBN1c.4077T= (p.Ile1359=)
n.2751T=
c.749T= (p.Leu250=)
15g.48474538A>CCA392320420FBN1c.4077T>G (p.Ile1359Met)
n.2751T>G
c.749T>G (p.Leu250Ter)
15g.48474538A>GCA490015187FBN1c.4077T>C (p.Ile1359=)
n.2751T>C
c.749T>C (p.Leu250Ser)
15g.48474538A>TCA051976FBN1c.4077T>A (p.Ile1359=)
n.2751T>A
c.749T>A (p.Leu250Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48474539A>CCA392320423FBN1c.4076T>G (p.Ile1359Ser)
n.2750T>G
c.748T>G (p.Leu250Val)
15g.48474539A>GCA392320421FBN1c.4076T>C (p.Ile1359Thr)
n.2750T>C
c.748T>C (p.Leu250=)
15g.48474539A>TCA392320422FBN1c.4076T>A (p.Ile1359Asn)
n.2750T>A
c.748T>A (p.Leu250Ile)
15g.48474540T>ACA392320424FBN1c.4075A>T (p.Ile1359Phe)
n.2749A>T
c.747A>T (p.Ala249=)
15g.48474540T>CCA051965FBN1c.4075A>G (p.Ile1359Val)
n.2749A>G
c.747A>G (p.Ala249=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48474540T>GCA392320425FBN1c.4075A>C (p.Ile1359Leu)
n.2749A>C
c.747A>C (p.Ala249=)
15g.48474540T=CA2175495879FBN1c.4075A= (p.Ile1359=)
n.2749A=
c.747A= (p.Ala249=)
15g.48474541G>ACA490015194FBN1c.4074C>T (p.Gly1358=)
n.2748C>T
c.746C>T (p.Ala249Val)
15g.48474541G>CCA490015195FBN1c.4074C>G (p.Gly1358=)
n.2748C>G
c.746C>G (p.Ala249Gly)
15g.48474541G=CA2175495906FBN1c.4074C= (p.Gly1358=)
n.2748C=
c.746C= (p.Ala249=)
15g.48474541G>TCA490015197FBN1c.4074C>A (p.Gly1358=)
n.2748C>A
c.746C>A (p.Ala249Glu)
 ClinVar dbSNP
15g.48474542C>ACA392320426FBN1c.4073G>T (p.Gly1358Val)
n.2747G>T
c.745G>T (p.Ala249Ser)
15g.48474542C>GCA392320427FBN1c.4073G>C (p.Gly1358Ala)
n.2747G>C
c.745G>C (p.Ala249Pro)
15g.48474542C>TCA392320428FBN1c.4073G>A (p.Gly1358Asp)
n.2747G>A
c.745G>A (p.Ala249Thr)
 gnomAD v4
15g.48474543C>ACA392320430FBN1c.4072G>T (p.Gly1358Cys)
n.2746G>T
c.744G>T (p.Met248Ile)
 gnomAD v4
15g.48474543C=CA2175495908FBN1c.4072G= (p.Gly1358=)
n.2746G=
c.744G= (p.Met248=)
15g.48474543C>GCA392320431FBN1c.4072G>C (p.Gly1358Arg)
n.2746G>C
c.744G>C (p.Met248Ile)
15g.48474543C>TCA392320429FBN1c.4072G>A (p.Gly1358Ser)
n.2746G>A
c.744G>A (p.Met248Ile)
 ClinVar dbSNP
15g.48474544A>CCA392320432FBN1c.4071T>G (p.Asp1357Glu)
n.2745T>G
c.743T>G (p.Met248Arg)
15g.48474544A>GCA490015203FBN1c.4071T>C (p.Asp1357=)
n.2745T>C
c.743T>C (p.Met248Thr)
15g.48474544A>TCA392320433FBN1c.4071T>A (p.Asp1357Glu)
n.2745T>A
c.743T>A (p.Met248Lys)
15g.48474545T>ACA392320434FBN1c.4070A>T (p.Asp1357Val)
n.2744A>T
c.742A>T (p.Met248Leu)
15g.48474545T>CCA392320435FBN1c.4070A>G (p.Asp1357Gly)
n.2744A>G
c.742A>G (p.Met248Val)
 gnomAD v4
15g.48474545T>GCA392320436FBN1c.4070A>C (p.Asp1357Ala)
n.2744A>C
c.742A>C (p.Met248Leu)
15g.48474546C>ACA392320437FBN1c.4069G>T (p.Asp1357Tyr)
n.2743G>T
c.741G>T (p.Glu247Asp)
15g.48474546C>GCA392320438FBN1c.4069G>C (p.Asp1357His)
n.2743G>C
c.741G>C (p.Glu247Asp)
15g.48474546C>TCA392320439FBN1c.4069G>A (p.Asp1357Asn)
n.2743G>A
c.741G>A (p.Glu247=)
15g.48474547T>ACA490015212FBN1c.4068A>T (p.Gly1356=)
n.2742A>T
c.740A>T (p.Glu247Val)
15g.48474547T>CCA490015214FBN1c.4068A>G (p.Gly1356=)
n.2742A>G
c.740A>G (p.Glu247Gly)
15g.48474547T>GCA490015213FBN1c.4068A>C (p.Gly1356=)
n.2742A>C
c.740A>C (p.Glu247Ala)
 ClinVar dbSNP
15g.48474547T=CA2175495916FBN1c.4068A= (p.Gly1356=)
n.2742A=
c.740A= (p.Glu247=)
15g.48474548C>ACA392320441FBN1c.4067G>T (p.Gly1356Val)
n.2741G>T
c.739G>T (p.Glu247Ter)
15g.48474548C>GCA392320443FBN1c.4067G>C (p.Gly1356Ala)
n.2741G>C
c.739G>C (p.Glu247Gln)
 gnomAD v4
15g.48474548C>TCA392320444FBN1c.4067G>A (p.Gly1356Glu)
n.2741G>A
c.739G>A (p.Glu247Lys)
15g.48474549C>ACA269520519FBN1c.4066G>T (p.Gly1356Ter)
n.2740G>T
c.738G>T (p.Leu246Phe)
 dbSNP
15g.48474549C=CA2175495921FBN1c.4066G= (p.Gly1356=)
n.2740G=
c.738G= (p.Leu246=)
15g.48474549C>GCA392320445FBN1c.4066G>C (p.Gly1356Arg)
n.2740G>C
c.738G>C (p.Leu246Phe)
15g.48474549C>TCA392320446FBN1c.4066G>A (p.Gly1356Arg)
n.2740G>A
c.738G>A (p.Leu246=)
 ClinVar dbSNP gnomAD v4
15g.48474550A=CA2175495927FBN1c.4065T= (p.Ile1355=)
n.2739T=
c.737T= (p.Leu246=)
15g.48474550A>CCA392320447FBN1c.4065T>G (p.Ile1355Met)
n.2739T>G
c.737T>G (p.Leu246Trp)
15g.48474550A>GCA490015217FBN1c.4065T>C (p.Ile1355=)
n.2739T>C
c.737T>C (p.Leu246Ser)
15g.48474550A>TCA490015218FBN1c.4065T>A (p.Ile1355=)
n.2739T>A
c.737T>A (p.Leu246Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.48474551A=CA2175495930FBN1c.4064T= (p.Ile1355=)
n.2738T=
c.736T= (p.Leu246=)
15g.48474551A>CCA392320449FBN1c.4064T>G (p.Ile1355Ser)
n.2738T>G
c.736T>G (p.Leu246Val)
15g.48474551A>GCA051955FBN1c.4064T>C (p.Ile1355Thr)
n.2738T>C
c.736T>C (p.Leu246=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48474551A>TCA392320448FBN1c.4064T>A (p.Ile1355Asn)
n.2738T>A
c.736T>A (p.Leu246Met)
15g.48474552T>ACA392320450FBN1c.4063A>T (p.Ile1355Phe)
n.2737A>T
c.735A>T (p.Gly245=)
15g.48474552T>CCA392320451FBN1c.4063A>G (p.Ile1355Val)
n.2737A>G
c.735A>G (p.Gly245=)
15g.48474552T>GCA392320452FBN1c.4063A>C (p.Ile1355Leu)
n.2737A>C
c.735A>C (p.Gly245=)
15g.48474553C>ACA392320453FBN1c.4062G>T (p.Trp1354Cys)
n.2736G>T
c.734G>T (p.Gly245Val)
15g.48474553C=CA2175495937FBN1c.4062G= (p.Trp1354=)
n.2736G=
c.734G= (p.Gly245=)
15g.48474553C>GCA392320454FBN1c.4062G>C (p.Trp1354Cys)
n.2736G>C
c.734G>C (p.Gly245Ala)
15g.48474553C>TCA014736FBN1c.4062G>A (p.Trp1354Ter)
n.2736G>A
c.734G>A (p.Gly245Glu)
 ClinVar dbSNP
15g.48474554C>ACA392320455FBN1c.4061G>T (p.Trp1354Leu)
n.2735G>T
c.733G>T (p.Gly245Ter)
15g.48474554C=CA2175495942FBN1c.4061G= (p.Trp1354=)
n.2735G=
c.733G= (p.Gly245=)
15g.48474554C>GCA392320456FBN1c.4061G>C (p.Trp1354Ser)
n.2735G>C
c.733G>C (p.Gly245Arg)
15g.48474554C>TCA16614649FBN1c.4061G>A (p.Trp1354Ter)
n.2735G>A
c.733G>A (p.Gly245Arg)
 ClinVar dbSNP
15g.48474554_48474555delinsCACA2175495945FBN1c.4060_4061delinsTG (p.Trp1354=)
n.2734_2735delinsTG
c.732_733delinsTG (p.Gly244=)
15g.48474555delCA658683885FBN1c.4060del (p.Trp1354GlyfsTer?)
n.2734del
c.732del (p.Gly245AspfsTer6)
 ClinVar dbSNP
15g.48474555A>CCA392320457FBN1c.4060T>G (p.Trp1354Gly)
n.2734T>G
c.732T>G (p.Gly244=)
15g.48474555A>GCA392320458FBN1c.4060T>C (p.Trp1354Arg)
n.2734T>C
c.732T>C (p.Gly244=)
15g.48474555A>TCA392320459FBN1c.4060T>A (p.Trp1354Arg)
n.2734T>A
c.732T>A (p.Gly244=)
15g.48474556C>ACA10587203FBN1c.4059G>T (p.Gly1353=)
n.2733G>T
c.731G>T (p.Gly244Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48474556C=CA2175495958FBN1c.4059G= (p.Gly1353=)
n.2733G=
c.731G= (p.Gly244=)
15g.48474556C>GCA490015227FBN1c.4059G>C (p.Gly1353=)
n.2733G>C
c.731G>C (p.Gly244Ala)
15g.48474556C>TCA490015228FBN1c.4059G>A (p.Gly1353=)
n.2733G>A
c.731G>A (p.Gly244Asp)
 gnomAD v4
15g.48474556_48474561delCA2695220638FBN1c.4054_4059del (p.Pro1352_Gly1353del)
n.2728_2733del
c.726_731del (p.Pro243_Gly244del)
15g.48474557C>ACA392320462FBN1c.4058G>T (p.Gly1353Val)
n.2732G>T
c.730G>T (p.Gly244Cys)
15g.48474557C>GCA392320460FBN1c.4058G>C (p.Gly1353Ala)
n.2732G>C
c.730G>C (p.Gly244Arg)
15g.48474557C>TCA392320461FBN1c.4058G>A (p.Gly1353Glu)
n.2732G>A
c.730G>A (p.Gly244Ser)
15g.48474558C>ACA051936FBN1c.4057G>T (p.Gly1353Trp)
n.2731G>T
c.729G>T (p.Pro243=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
15g.48474558C=CA2175495976FBN1c.4057G= (p.Gly1353=)
n.2731G=
c.729G= (p.Pro243=)
15g.48474558C>GCA392320463FBN1c.4057G>C (p.Gly1353Arg)
n.2731G>C
c.729G>C (p.Pro243=)
 ClinVar dbSNP
15g.48474558C>TCA392320464FBN1c.4057G>A (p.Gly1353Arg)
n.2731G>A
c.729G>A (p.Pro243=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48474558_48474559delinsCGCA2175495978FBN1c.4056_4057delinsCG (p.Pro1352=)
n.2730_2731delinsCG
c.728_729delinsCG (p.Pro243=)
15g.48474558_48474559insTTTCTGTTAATAATCA2175495997FBN1c.4056_4057insATTATTAACAGAAA (p.Gly1353IlefsTer?)
n.2730_2731insATTATTAACAGAAA
c.728_729insATTATTAACAGAAA (p.Gly244LeufsTer12)
 dbSNP
15g.48474559G>ACA051928FBN1c.4056C>T (p.Pro1352=)
n.2730C>T
c.728C>T (p.Pro243Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48474559G>CCA490015232FBN1c.4056C>G (p.Pro1352=)
n.2730C>G
c.728C>G (p.Pro243Arg)
15g.48474559G=CA2175496000FBN1c.4056C= (p.Pro1352=)
n.2730C=
c.728C= (p.Pro243=)
15g.48474559G>TCA051925FBN1c.4056C>A (p.Pro1352=)
n.2730C>A
c.728C>A (p.Pro243Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48474561delCA658824323FBN1c.4056del (p.Trp1354GlyfsTer?)
n.2730del
c.728del (p.Pro243ArgfsTer8)
 ClinVar dbSNP
15g.48474560G>ACA392320465FBN1c.4055C>T (p.Pro1352Leu)
n.2729C>T
c.727C>T (p.Pro243Ser)
 gnomAD v4 COSMIC
15g.48474560G>CCA392320466FBN1c.4055C>G (p.Pro1352Arg)
n.2729C>G
c.727C>G (p.Pro243Ala)
15g.48474560G=CA2175496014FBN1c.4055C= (p.Pro1352=)
n.2729C=
c.727C= (p.Pro243=)
15g.48474560G>TCA392320467FBN1c.4055C>A (p.Pro1352His)
n.2729C>A
c.727C>A (p.Pro243Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48474561G>ACA051917FBN1c.4054C>T (p.Pro1352Ser)
n.2728C>T
c.726C>T (p.Val242=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48474561G>CCA269520535FBN1c.4054C>G (p.Pro1352Ala)
n.2728C>G
c.726C>G (p.Val242=)
 dbSNP
15g.48474561G=CA2175496018FBN1c.4054C= (p.Pro1352=)
n.2728C=
c.726C= (p.Val242=)
15g.48474561G>TCA392320468FBN1c.4054C>A (p.Pro1352Thr)
n.2728C>A
c.726C>A (p.Val242=)
15g.48474562A>CCA392320470FBN1c.4053T>G (p.Ser1351Arg)
n.2727T>G
c.725T>G (p.Val242Gly)
15g.48474562A>GCA490015233FBN1c.4053T>C (p.Ser1351=)
n.2727T>C
c.725T>C (p.Val242Ala)
15g.48474562A>TCA392320469FBN1c.4053T>A (p.Ser1351Arg)
n.2727T>A
c.725T>A (p.Val242Asp)
15g.48474563C>ACA392320471FBN1c.4052G>T (p.Ser1351Ile)
n.2726G>T
c.724G>T (p.Val242Phe)
15g.48474563C=CA2175496032FBN1c.4052G= (p.Ser1351=)
n.2726G=
c.724G= (p.Val242=)
15g.48474563C>GCA392320472FBN1c.4052G>C (p.Ser1351Thr)
n.2726G>C
c.724G>C (p.Val242Leu)
15g.48474563C>TCA392320473FBN1c.4052G>A (p.Ser1351Asn)
n.2726G>A
c.724G>A (p.Val242Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48474564T>ACA392320474FBN1c.4051A>T (p.Ser1351Cys)
n.2725A>T
c.723A>T (p.Ala241=)
 COSMIC
15g.48474564T>CCA392320475FBN1c.4051A>G (p.Ser1351Gly)
n.2725A>G
c.723A>G (p.Ala241=)
 gnomAD v4
15g.48474564T>GCA392320476FBN1c.4051A>C (p.Ser1351Arg)
n.2725A>C
c.723A>C (p.Ala241=)
15g.48474565G>ACA269520539FBN1c.4050C>T (p.Cys1350=)
n.2724C>T
c.722C>T (p.Ala241Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.48474565G>CCA392320477FBN1c.4050C>G (p.Cys1350Trp)
n.2724C>G
c.722C>G (p.Ala241Gly)
15g.48474565G=CA2175496040FBN1c.4050C= (p.Cys1350=)
n.2724C=
c.722C= (p.Ala241=)
15g.48474565G>TCA014724FBN1c.4050C>A (p.Cys1350Ter)
n.2724C>A
c.722C>A (p.Ala241Glu)
 ClinVar dbSNP
15g.48474566C>ACA392320478FBN1c.4049G>T (p.Cys1350Phe)
n.2723G>T
c.721G>T (p.Ala241Ser)
 ClinVar dbSNP
15g.48474566C=CA2175496055FBN1c.4049G= (p.Cys1350=)
n.2723G=
c.721G= (p.Ala241=)
15g.48474566C>GCA392320479FBN1c.4049G>C (p.Cys1350Ser)
n.2723G>C
c.721G>C (p.Ala241Pro)
15g.48474566C>TCA392320480FBN1c.4049G>A (p.Cys1350Tyr)
n.2723G>A
c.721G>A (p.Ala241Thr)
 ClinVar dbSNP
15g.48474567A=CA2175496082FBN1c.4048T= (p.Cys1350=)
n.2722T=
c.720T= (p.Ala240=)
15g.48474567A>CCA392320481FBN1c.4048T>G (p.Cys1350Gly)
n.2722T>G
c.720T>G (p.Ala240=)
 ClinVar dbSNP
15g.48474567A>GCA16616744FBN1c.4048T>C (p.Cys1350Arg)
n.2722T>C
c.720T>C (p.Ala240=)
 ClinVar dbSNP
15g.48474567A>TCA014710FBN1c.4048T>A (p.Cys1350Ser)
n.2722T>A
c.720T>A (p.Ala240=)
 ClinVar dbSNP

Number of alleles fetched