Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128332956C>ACA360754889FBN2n.962G>T
n.1043G>T
c.4178G>T (p.Cys1393Phe)
c.728G>T (p.Cys243Phe)
c.4079G>T (p.Cys1360Phe)
c.4175G>T (p.Cys1392Phe)
c.4025G>T (p.Cys1342Phe)
5g.128332956C>GCA360754891FBN2n.962G>C
n.1043G>C
c.4178G>C (p.Cys1393Ser)
c.728G>C (p.Cys243Ser)
c.4079G>C (p.Cys1360Ser)
c.4175G>C (p.Cys1392Ser)
c.4025G>C (p.Cys1342Ser)
5g.128332956C>TCA360754895FBN2n.962G>A
n.1043G>A
c.4178G>A (p.Cys1393Tyr)
c.728G>A (p.Cys243Tyr)
c.4079G>A (p.Cys1360Tyr)
c.4175G>A (p.Cys1392Tyr)
c.4025G>A (p.Cys1342Tyr)
5g.128332957A>CCA360754905FBN2n.961T>G
n.1042T>G
c.4177T>G (p.Cys1393Gly)
c.727T>G (p.Cys243Gly)
c.4078T>G (p.Cys1360Gly)
c.4174T>G (p.Cys1392Gly)
c.4024T>G (p.Cys1342Gly)
5g.128332957A>GCA360754900FBN2n.961T>C
n.1042T>C
c.4177T>C (p.Cys1393Arg)
c.727T>C (p.Cys243Arg)
c.4078T>C (p.Cys1360Arg)
c.4174T>C (p.Cys1392Arg)
c.4024T>C (p.Cys1342Arg)
ClinVar
5g.128332957A>TCA360754902FBN2n.961T>A
n.1042T>A
c.4177T>A (p.Cys1393Ser)
c.727T>A (p.Cys243Ser)
c.4078T>A (p.Cys1360Ser)
c.4174T>A (p.Cys1392Ser)
c.4024T>A (p.Cys1342Ser)
5g.128332958C>ACA360754909FBN2n.960G>T
n.1041G>T
c.4176G>T (p.Lys1392Asn)
c.726G>T (p.Lys242Asn)
c.4077G>T (p.Lys1359Asn)
c.4173G>T (p.Lys1391Asn)
c.4023G>T (p.Lys1341Asn)
5g.128332958C=CA1581268392FBN2n.960G=
n.1041G=
c.4176G= (p.Lys1392=)
c.726G= (p.Lys242=)
c.4077G= (p.Lys1359=)
c.4173G= (p.Lys1391=)
c.4023G= (p.Lys1341=)
5g.128332958C>GCA360754911FBN2n.960G>C
n.1041G>C
c.4176G>C (p.Lys1392Asn)
c.726G>C (p.Lys242Asn)
c.4077G>C (p.Lys1359Asn)
c.4173G>C (p.Lys1391Asn)
c.4023G>C (p.Lys1341Asn)
dbSNP gnomAD v2
5g.128332958C>TCA3395044FBN2n.960G>A
n.1041G>A
c.4176G>A (p.Lys1392=)
c.726G>A (p.Lys242=)
c.4077G>A (p.Lys1359=)
c.4173G>A (p.Lys1391=)
c.4023G>A (p.Lys1341=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.128332959T>ACA360754919FBN2n.959A>T
n.1040A>T
c.4175A>T (p.Lys1392Met)
c.725A>T (p.Lys242Met)
c.4076A>T (p.Lys1359Met)
c.4172A>T (p.Lys1391Met)
c.4022A>T (p.Lys1341Met)
5g.128332959T>CCA360754921FBN2n.959A>G
n.1040A>G
c.4175A>G (p.Lys1392Arg)
c.725A>G (p.Lys242Arg)
c.4076A>G (p.Lys1359Arg)
c.4172A>G (p.Lys1391Arg)
c.4022A>G (p.Lys1341Arg)
gnomAD v4
5g.128332959T>GCA360754923FBN2n.959A>C
n.1040A>C
c.4175A>C (p.Lys1392Thr)
c.725A>C (p.Lys242Thr)
c.4076A>C (p.Lys1359Thr)
c.4172A>C (p.Lys1391Thr)
c.4022A>C (p.Lys1341Thr)
5g.128332960T>ACA360754927FBN2n.958A>T
n.1039A>T
c.4174A>T (p.Lys1392Ter)
c.724A>T (p.Lys242Ter)
c.4075A>T (p.Lys1359Ter)
c.4171A>T (p.Lys1391Ter)
c.4021A>T (p.Lys1341Ter)
5g.128332960T>CCA360754940FBN2n.958A>G
n.1039A>G
c.4174A>G (p.Lys1392Glu)
c.724A>G (p.Lys242Glu)
c.4075A>G (p.Lys1359Glu)
c.4171A>G (p.Lys1391Glu)
c.4021A>G (p.Lys1341Glu)
5g.128332960T>GCA360754943FBN2n.958A>C
n.1039A>C
c.4174A>C (p.Lys1392Gln)
c.724A>C (p.Lys242Gln)
c.4075A>C (p.Lys1359Gln)
c.4171A>C (p.Lys1391Gln)
c.4021A>C (p.Lys1341Gln)
dbSNP
5g.128332960T=CA1581268393FBN2n.958A=
n.1039A=
c.4174A= (p.Lys1392=)
c.724A= (p.Lys242=)
c.4075A= (p.Lys1359=)
c.4171A= (p.Lys1391=)
c.4021A= (p.Lys1341=)
5g.128332961G>ACA446309483FBN2n.957C>T
n.1038C>T
c.4173C>T (p.Phe1391=)
c.723C>T (p.Phe241=)
c.4074C>T (p.Phe1358=)
c.4170C>T (p.Phe1390=)
c.4020C>T (p.Phe1340=)
5g.128332961G>CCA360754949FBN2n.957C>G
n.1038C>G
c.4173C>G (p.Phe1391Leu)
c.723C>G (p.Phe241Leu)
c.4074C>G (p.Phe1358Leu)
c.4170C>G (p.Phe1390Leu)
c.4020C>G (p.Phe1340Leu)
5g.128332961G>TCA360754950FBN2n.957C>A
n.1038C>A
c.4173C>A (p.Phe1391Leu)
c.723C>A (p.Phe241Leu)
c.4074C>A (p.Phe1358Leu)
c.4170C>A (p.Phe1390Leu)
c.4020C>A (p.Phe1340Leu)
5g.128332962A>CCA360754951FBN2n.956T>G
n.1037T>G
c.4172T>G (p.Phe1391Cys)
c.722T>G (p.Phe241Cys)
c.4073T>G (p.Phe1358Cys)
c.4169T>G (p.Phe1390Cys)
c.4019T>G (p.Phe1340Cys)
5g.128332962A>GCA360754953FBN2n.956T>C
n.1037T>C
c.4172T>C (p.Phe1391Ser)
c.722T>C (p.Phe241Ser)
c.4073T>C (p.Phe1358Ser)
c.4169T>C (p.Phe1390Ser)
c.4019T>C (p.Phe1340Ser)
5g.128332962A>TCA360754952FBN2n.956T>A
n.1037T>A
c.4172T>A (p.Phe1391Tyr)
c.722T>A (p.Phe241Tyr)
c.4073T>A (p.Phe1358Tyr)
c.4169T>A (p.Phe1390Tyr)
c.4019T>A (p.Phe1340Tyr)
5g.128332963A>CCA360754955FBN2n.955T>G
n.1036T>G
c.4171T>G (p.Phe1391Val)
c.721T>G (p.Phe241Val)
c.4072T>G (p.Phe1358Val)
c.4168T>G (p.Phe1390Val)
c.4018T>G (p.Phe1340Val)
5g.128332963A>GCA360754956FBN2n.955T>C
n.1036T>C
c.4171T>C (p.Phe1391Leu)
c.721T>C (p.Phe241Leu)
c.4072T>C (p.Phe1358Leu)
c.4168T>C (p.Phe1390Leu)
c.4018T>C (p.Phe1340Leu)
5g.128332963A>TCA360754957FBN2n.955T>A
n.1036T>A
c.4171T>A (p.Phe1391Ile)
c.721T>A (p.Phe241Ile)
c.4072T>A (p.Phe1358Ile)
c.4168T>A (p.Phe1390Ile)
c.4018T>A (p.Phe1340Ile)
5g.128332964G>ACA446309491FBN2n.954C>T
n.1035C>T
c.4170C>T (p.Ser1390=)
c.720C>T (p.Ser240=)
c.4071C>T (p.Ser1357=)
c.4167C>T (p.Ser1389=)
c.4017C>T (p.Ser1339=)
5g.128332964G>CCA360754958FBN2n.954C>G
n.1035C>G
c.4170C>G (p.Ser1390Arg)
c.720C>G (p.Ser240Arg)
c.4071C>G (p.Ser1357Arg)
c.4167C>G (p.Ser1389Arg)
c.4017C>G (p.Ser1339Arg)
5g.128332964G>TCA360754960FBN2n.954C>A
n.1035C>A
c.4170C>A (p.Ser1390Arg)
c.720C>A (p.Ser240Arg)
c.4071C>A (p.Ser1357Arg)
c.4167C>A (p.Ser1389Arg)
c.4017C>A (p.Ser1339Arg)
5g.128332965C>ACA360754961FBN2n.953G>T
n.1034G>T
c.4169G>T (p.Ser1390Ile)
c.719G>T (p.Ser240Ile)
c.4070G>T (p.Ser1357Ile)
c.4166G>T (p.Ser1389Ile)
c.4016G>T (p.Ser1339Ile)
5g.128332965C=CA1581268394FBN2n.953G=
n.1034G=
c.4169G= (p.Ser1390=)
c.719G= (p.Ser240=)
c.4070G= (p.Ser1357=)
c.4166G= (p.Ser1389=)
c.4016G= (p.Ser1339=)
5g.128332965C>GCA360754963FBN2n.953G>C
n.1034G>C
c.4169G>C (p.Ser1390Thr)
c.719G>C (p.Ser240Thr)
c.4070G>C (p.Ser1357Thr)
c.4166G>C (p.Ser1389Thr)
c.4016G>C (p.Ser1339Thr)
5g.128332965C>TCA127006989FBN2n.953G>A
n.1034G>A
c.4169G>A (p.Ser1390Asn)
c.719G>A (p.Ser240Asn)
c.4070G>A (p.Ser1357Asn)
c.4166G>A (p.Ser1389Asn)
c.4016G>A (p.Ser1339Asn)
dbSNP gnomAD v4
5g.128332966T>ACA360754967FBN2n.952A>T
n.1033A>T
c.4168A>T (p.Ser1390Cys)
c.718A>T (p.Ser240Cys)
c.4069A>T (p.Ser1357Cys)
c.4165A>T (p.Ser1389Cys)
c.4015A>T (p.Ser1339Cys)
5g.128332966T>CCA360754968FBN2n.952A>G
n.1033A>G
c.4168A>G (p.Ser1390Gly)
c.718A>G (p.Ser240Gly)
c.4069A>G (p.Ser1357Gly)
c.4165A>G (p.Ser1389Gly)
c.4015A>G (p.Ser1339Gly)
5g.128332966T>GCA360754971FBN2n.952A>C
n.1033A>C
c.4168A>C (p.Ser1390Arg)
c.718A>C (p.Ser240Arg)
c.4069A>C (p.Ser1357Arg)
c.4165A>C (p.Ser1389Arg)
c.4015A>C (p.Ser1339Arg)
5g.128332967T>ACA446309498FBN2n.951A>T
n.1032A>T
c.4167A>T (p.Gly1389=)
c.717A>T (p.Gly239=)
c.4068A>T (p.Gly1356=)
c.4164A>T (p.Gly1388=)
c.4014A>T (p.Gly1338=)
5g.128332967T>CCA446309499FBN2n.951A>G
n.1032A>G
c.4167A>G (p.Gly1389=)
c.717A>G (p.Gly239=)
c.4068A>G (p.Gly1356=)
c.4164A>G (p.Gly1388=)
c.4014A>G (p.Gly1338=)
5g.128332967T>GCA446309500FBN2n.951A>C
n.1032A>C
c.4167A>C (p.Gly1389=)
c.717A>C (p.Gly239=)
c.4068A>C (p.Gly1356=)
c.4164A>C (p.Gly1388=)
c.4014A>C (p.Gly1338=)
5g.128332968C>ACA360754977FBN2n.950G>T
n.1031G>T
c.4166G>T (p.Gly1389Val)
c.716G>T (p.Gly239Val)
c.4067G>T (p.Gly1356Val)
c.4163G>T (p.Gly1388Val)
c.4013G>T (p.Gly1338Val)
5g.128332968C>GCA360754974FBN2n.950G>C
n.1031G>C
c.4166G>C (p.Gly1389Ala)
c.716G>C (p.Gly239Ala)
c.4067G>C (p.Gly1356Ala)
c.4163G>C (p.Gly1388Ala)
c.4013G>C (p.Gly1338Ala)
5g.128332968C>TCA360754976FBN2n.950G>A
n.1031G>A
c.4166G>A (p.Gly1389Glu)
c.716G>A (p.Gly239Glu)
c.4067G>A (p.Gly1356Glu)
c.4163G>A (p.Gly1388Glu)
c.4013G>A (p.Gly1338Glu)
gnomAD v4
5g.128332969C>ACA360754978FBN2n.949G>T
n.1030G>T
c.4165G>T (p.Gly1389Ter)
c.715G>T (p.Gly239Ter)
c.4066G>T (p.Gly1356Ter)
c.4162G>T (p.Gly1388Ter)
c.4012G>T (p.Gly1338Ter)
COSMIC COSMIC
5g.128332969C>GCA360754981FBN2n.949G>C
n.1030G>C
c.4165G>C (p.Gly1389Arg)
c.715G>C (p.Gly239Arg)
c.4066G>C (p.Gly1356Arg)
c.4162G>C (p.Gly1388Arg)
c.4012G>C (p.Gly1338Arg)
5g.128332969C>TCA360754990FBN2n.949G>A
n.1030G>A
c.4165G>A (p.Gly1389Arg)
c.715G>A (p.Gly239Arg)
c.4066G>A (p.Gly1356Arg)
c.4162G>A (p.Gly1388Arg)
c.4012G>A (p.Gly1338Arg)
5g.128332970T>ACA446309507FBN2n.948A>T
n.1029A>T
c.4164A>T (p.Pro1388=)
c.714A>T (p.Pro238=)
c.4065A>T (p.Pro1355=)
c.4161A>T (p.Pro1387=)
c.4011A>T (p.Pro1337=)
5g.128332970T>CCA446309508FBN2n.948A>G
n.1029A>G
c.4164A>G (p.Pro1388=)
c.714A>G (p.Pro238=)
c.4065A>G (p.Pro1355=)
c.4161A>G (p.Pro1387=)
c.4011A>G (p.Pro1337=)
ClinVar gnomAD v4
5g.128332970T>GCA446309505FBN2n.948A>C
n.1029A>C
c.4164A>C (p.Pro1388=)
c.714A>C (p.Pro238=)
c.4065A>C (p.Pro1355=)
c.4161A>C (p.Pro1387=)
c.4011A>C (p.Pro1337=)
5g.128332971G>ACA360754995FBN2n.947C>T
n.1028C>T
c.4163C>T (p.Pro1388Leu)
c.713C>T (p.Pro238Leu)
c.4064C>T (p.Pro1355Leu)
c.4160C>T (p.Pro1387Leu)
c.4010C>T (p.Pro1337Leu)
dbSNP
5g.128332971G>CCA360755009FBN2n.947C>G
n.1028C>G
c.4163C>G (p.Pro1388Arg)
c.713C>G (p.Pro238Arg)
c.4064C>G (p.Pro1355Arg)
c.4160C>G (p.Pro1387Arg)
c.4010C>G (p.Pro1337Arg)
5g.128332971G=CA1581268395FBN2n.947C=
n.1028C=
c.4163C= (p.Pro1388=)
c.713C= (p.Pro238=)
c.4064C= (p.Pro1355=)
c.4160C= (p.Pro1387=)
c.4010C= (p.Pro1337=)
5g.128332971G>TCA360755013FBN2n.947C>A
n.1028C>A
c.4163C>A (p.Pro1388Gln)
c.713C>A (p.Pro238Gln)
c.4064C>A (p.Pro1355Gln)
c.4160C>A (p.Pro1387Gln)
c.4010C>A (p.Pro1337Gln)
5g.128332972G>ACA360755014FBN2n.946C>T
n.1027C>T
c.4162C>T (p.Pro1388Ser)
c.712C>T (p.Pro238Ser)
c.4063C>T (p.Pro1355Ser)
c.4159C>T (p.Pro1387Ser)
c.4009C>T (p.Pro1337Ser)
COSMIC COSMIC
5g.128332972G>CCA360755015FBN2n.946C>G
n.1027C>G
c.4162C>G (p.Pro1388Ala)
c.712C>G (p.Pro238Ala)
c.4063C>G (p.Pro1355Ala)
c.4159C>G (p.Pro1387Ala)
c.4009C>G (p.Pro1337Ala)
5g.128332972G>TCA360755018FBN2n.946C>A
n.1027C>A
c.4162C>A (p.Pro1388Thr)
c.712C>A (p.Pro238Thr)
c.4063C>A (p.Pro1355Thr)
c.4159C>A (p.Pro1387Thr)
c.4009C>A (p.Pro1337Thr)
5g.128332973G>ACA127006990FBN2n.945C>T
n.1026C>T
c.4161C>T (p.Ile1387=)
c.711C>T (p.Ile237=)
c.4062C>T (p.Ile1354=)
c.4158C>T (p.Ile1386=)
c.4008C>T (p.Ile1336=)
dbSNP gnomAD v3 gnomAD v4
5g.128332973G>CCA360755023FBN2n.945C>G
n.1026C>G
c.4161C>G (p.Ile1387Met)
c.711C>G (p.Ile237Met)
c.4062C>G (p.Ile1354Met)
c.4158C>G (p.Ile1386Met)
c.4008C>G (p.Ile1336Met)
5g.128332973G=CA1581268396FBN2n.945C=
n.1026C=
c.4161C= (p.Ile1387=)
c.711C= (p.Ile237=)
c.4062C= (p.Ile1354=)
c.4158C= (p.Ile1386=)
c.4008C= (p.Ile1336=)
5g.128332973G>TCA446309510FBN2n.945C>A
n.1026C>A
c.4161C>A (p.Ile1387=)
c.711C>A (p.Ile237=)
c.4062C>A (p.Ile1354=)
c.4158C>A (p.Ile1386=)
c.4008C>A (p.Ile1336=)
5g.128332974A>CCA360755032FBN2n.944T>G
n.1025T>G
c.4160T>G (p.Ile1387Ser)
c.710T>G (p.Ile237Ser)
c.4061T>G (p.Ile1354Ser)
c.4157T>G (p.Ile1386Ser)
c.4007T>G (p.Ile1336Ser)
5g.128332974A>GCA360755036FBN2n.944T>C
n.1025T>C
c.4160T>C (p.Ile1387Thr)
c.710T>C (p.Ile237Thr)
c.4061T>C (p.Ile1354Thr)
c.4157T>C (p.Ile1386Thr)
c.4007T>C (p.Ile1336Thr)
5g.128332974A>TCA360755028FBN2n.944T>A
n.1025T>A
c.4160T>A (p.Ile1387Asn)
c.710T>A (p.Ile237Asn)
c.4061T>A (p.Ile1354Asn)
c.4157T>A (p.Ile1386Asn)
c.4007T>A (p.Ile1336Asn)
5g.128332975T>ACA360755049FBN2n.943A>T
n.1024A>T
c.4159A>T (p.Ile1387Phe)
c.709A>T (p.Ile237Phe)
c.4060A>T (p.Ile1354Phe)
c.4156A>T (p.Ile1386Phe)
c.4006A>T (p.Ile1336Phe)
5g.128332975T>CCA360755041FBN2n.943A>G
n.1024A>G
c.4159A>G (p.Ile1387Val)
c.709A>G (p.Ile237Val)
c.4060A>G (p.Ile1354Val)
c.4156A>G (p.Ile1386Val)
c.4006A>G (p.Ile1336Val)
dbSNP
5g.128332975T>GCA360755046FBN2n.943A>C
n.1024A>C
c.4159A>C (p.Ile1387Leu)
c.709A>C (p.Ile237Leu)
c.4060A>C (p.Ile1354Leu)
c.4156A>C (p.Ile1386Leu)
c.4006A>C (p.Ile1336Leu)
5g.128332975T=CA1581268397FBN2n.943A=
n.1024A=
c.4159A= (p.Ile1387=)
c.709A= (p.Ile237=)
c.4060A= (p.Ile1354=)
c.4156A= (p.Ile1386=)
c.4006A= (p.Ile1336=)
5g.128332976A>CCA360755050FBN2n.942T>G
n.1023T>G
c.4158T>G (p.Asn1386Lys)
c.708T>G (p.Asn236Lys)
c.4059T>G (p.Asn1353Lys)
c.4155T>G (p.Asn1385Lys)
c.4005T>G (p.Asn1335Lys)
5g.128332976A>GCA446309517FBN2n.942T>C
n.1023T>C
c.4158T>C (p.Asn1386=)
c.708T>C (p.Asn236=)
c.4059T>C (p.Asn1353=)
c.4155T>C (p.Asn1385=)
c.4005T>C (p.Asn1335=)
5g.128332976A>TCA360755051FBN2n.942T>A
n.1023T>A
c.4158T>A (p.Asn1386Lys)
c.708T>A (p.Asn236Lys)
c.4059T>A (p.Asn1353Lys)
c.4155T>A (p.Asn1385Lys)
c.4005T>A (p.Asn1335Lys)
5g.128332977T>ACA360755052FBN2n.941A>T
n.1022A>T
c.4157A>T (p.Asn1386Ile)
c.707A>T (p.Asn236Ile)
c.4058A>T (p.Asn1353Ile)
c.4154A>T (p.Asn1385Ile)
c.4004A>T (p.Asn1335Ile)
5g.128332977T>CCA360755054FBN2n.941A>G
n.1022A>G
c.4157A>G (p.Asn1386Ser)
c.707A>G (p.Asn236Ser)
c.4058A>G (p.Asn1353Ser)
c.4154A>G (p.Asn1385Ser)
c.4004A>G (p.Asn1335Ser)
ClinVar
5g.128332977T>GCA360755056FBN2n.941A>C
n.1022A>C
c.4157A>C (p.Asn1386Thr)
c.707A>C (p.Asn236Thr)
c.4058A>C (p.Asn1353Thr)
c.4154A>C (p.Asn1385Thr)
c.4004A>C (p.Asn1335Thr)
ClinVar gnomAD v4
5g.128332978T>ACA360755063FBN2n.940A>T
n.1021A>T
c.4156A>T (p.Asn1386Tyr)
c.706A>T (p.Asn236Tyr)
c.4057A>T (p.Asn1353Tyr)
c.4153A>T (p.Asn1385Tyr)
c.4003A>T (p.Asn1335Tyr)
5g.128332978T>CCA360755068FBN2n.940A>G
n.1021A>G
c.4156A>G (p.Asn1386Asp)
c.706A>G (p.Asn236Asp)
c.4057A>G (p.Asn1353Asp)
c.4153A>G (p.Asn1385Asp)
c.4003A>G (p.Asn1335Asp)
5g.128332978T>GCA360755084FBN2n.940A>C
n.1021A>C
c.4156A>C (p.Asn1386His)
c.706A>C (p.Asn236His)
c.4057A>C (p.Asn1353His)
c.4153A>C (p.Asn1385His)
c.4003A>C (p.Asn1335His)
5g.128332979C>ACA446309520FBN2n.939G>T
n.1020G>T
c.4155G>T (p.Leu1385=)
c.705G>T (p.Leu235=)
c.4056G>T (p.Leu1352=)
c.4152G>T (p.Leu1384=)
c.4002G>T (p.Leu1334=)
5g.128332979C>GCA446309521FBN2n.939G>C
n.1020G>C
c.4155G>C (p.Leu1385=)
c.705G>C (p.Leu235=)
c.4056G>C (p.Leu1352=)
c.4152G>C (p.Leu1384=)
c.4002G>C (p.Leu1334=)
5g.128332979C>TCA446309522FBN2n.939G>A
n.1020G>A
c.4155G>A (p.Leu1385=)
c.705G>A (p.Leu235=)
c.4056G>A (p.Leu1352=)
c.4152G>A (p.Leu1384=)
c.4002G>A (p.Leu1334=)
5g.128332980A=CA1581268398FBN2n.938T=
n.1019T=
c.4154T= (p.Leu1385=)
c.704T= (p.Leu235=)
c.4055T= (p.Leu1352=)
c.4151T= (p.Leu1384=)
c.4001T= (p.Leu1334=)
5g.128332980A>CCA360755089FBN2n.938T>G
n.1019T>G
c.4154T>G (p.Leu1385Arg)
c.704T>G (p.Leu235Arg)
c.4055T>G (p.Leu1352Arg)
c.4151T>G (p.Leu1384Arg)
c.4001T>G (p.Leu1334Arg)
5g.128332980A>GCA360755091FBN2n.938T>C
n.1019T>C
c.4154T>C (p.Leu1385Pro)
c.704T>C (p.Leu235Pro)
c.4055T>C (p.Leu1352Pro)
c.4151T>C (p.Leu1384Pro)
c.4001T>C (p.Leu1334Pro)
ClinVar dbSNP
5g.128332980A>TCA360755095FBN2n.938T>A
n.1019T>A
c.4154T>A (p.Leu1385Gln)
c.704T>A (p.Leu235Gln)
c.4055T>A (p.Leu1352Gln)
c.4151T>A (p.Leu1384Gln)
c.4001T>A (p.Leu1334Gln)
5g.128332981G>ACA446309523FBN2n.937C>T
n.1018C>T
c.4153C>T (p.Leu1385=)
c.703C>T (p.Leu235=)
c.4054C>T (p.Leu1352=)
c.4150C>T (p.Leu1384=)
c.4000C>T (p.Leu1334=)
5g.128332981G>CCA360755101FBN2n.937C>G
n.1018C>G
c.4153C>G (p.Leu1385Val)
c.703C>G (p.Leu235Val)
c.4054C>G (p.Leu1352Val)
c.4150C>G (p.Leu1384Val)
c.4000C>G (p.Leu1334Val)
gnomAD v3 gnomAD v4
5g.128332981G>TCA360755098FBN2n.937C>A
n.1018C>A
c.4153C>A (p.Leu1385Met)
c.703C>A (p.Leu235Met)
c.4054C>A (p.Leu1352Met)
c.4150C>A (p.Leu1384Met)
c.4000C>A (p.Leu1334Met)
COSMIC COSMIC
5g.128332982A>CCA360755121FBN2n.936T>G
n.1017T>G
c.4152T>G (p.Cys1384Trp)
c.702T>G (p.Cys234Trp)
c.4053T>G (p.Cys1351Trp)
c.4149T>G (p.Cys1383Trp)
c.3999T>G (p.Cys1333Trp)
5g.128332982A>GCA446309524FBN2n.936T>C
n.1017T>C
c.4152T>C (p.Cys1384=)
c.702T>C (p.Cys234=)
c.4053T>C (p.Cys1351=)
c.4149T>C (p.Cys1383=)
c.3999T>C (p.Cys1333=)
5g.128332982A>TCA360755123FBN2n.936T>A
n.1017T>A
c.4152T>A (p.Cys1384Ter)
c.702T>A (p.Cys234Ter)
c.4053T>A (p.Cys1351Ter)
c.4149T>A (p.Cys1383Ter)
c.3999T>A (p.Cys1333Ter)
5g.128332983C>ACA360755124FBN2n.935G>T
n.1016G>T
c.4151G>T (p.Cys1384Phe)
c.701G>T (p.Cys234Phe)
c.4052G>T (p.Cys1351Phe)
c.4148G>T (p.Cys1383Phe)
c.3998G>T (p.Cys1333Phe)
5g.128332983C=CA1581268399FBN2n.935G=
n.1016G=
c.4151G= (p.Cys1384=)
c.701G= (p.Cys234=)
c.4052G= (p.Cys1351=)
c.4148G= (p.Cys1383=)
c.3998G= (p.Cys1333=)
5g.128332983C>GCA360755128FBN2n.935G>C
n.1016G>C
c.4151G>C (p.Cys1384Ser)
c.701G>C (p.Cys234Ser)
c.4052G>C (p.Cys1351Ser)
c.4148G>C (p.Cys1383Ser)
c.3998G>C (p.Cys1333Ser)
5g.128332983C>TCA244152FBN2n.935G>A
n.1016G>A
c.4151G>A (p.Cys1384Tyr)
c.701G>A (p.Cys234Tyr)
c.4052G>A (p.Cys1351Tyr)
c.4148G>A (p.Cys1383Tyr)
c.3998G>A (p.Cys1333Tyr)
ClinVar dbSNP
5g.128332984A>CCA360755131FBN2n.934T>G
n.1015T>G
c.4150T>G (p.Cys1384Gly)
c.700T>G (p.Cys234Gly)
c.4051T>G (p.Cys1351Gly)
c.4147T>G (p.Cys1383Gly)
c.3997T>G (p.Cys1333Gly)
5g.128332984A>GCA360755133FBN2n.934T>C
n.1015T>C
c.4150T>C (p.Cys1384Arg)
c.700T>C (p.Cys234Arg)
c.4051T>C (p.Cys1351Arg)
c.4147T>C (p.Cys1383Arg)
c.3997T>C (p.Cys1333Arg)
5g.128332984A>TCA360755136FBN2n.934T>A
n.1015T>A
c.4150T>A (p.Cys1384Ser)
c.700T>A (p.Cys234Ser)
c.4051T>A (p.Cys1351Ser)
c.4147T>A (p.Cys1383Ser)
c.3997T>A (p.Cys1333Ser)
5g.128332985T>ACA446309525FBN2n.933A>T
n.1014A>T
c.4149A>T (p.Ser1383=)
c.699A>T (p.Ser233=)
c.4050A>T (p.Ser1350=)
c.4146A>T (p.Ser1382=)
c.3996A>T (p.Ser1332=)
5g.128332985T>CCA3395045FBN2n.933A>G
n.1014A>G
c.4149A>G (p.Ser1383=)
c.699A>G (p.Ser233=)
c.4050A>G (p.Ser1350=)
c.4146A>G (p.Ser1382=)
c.3996A>G (p.Ser1332=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128332985T>GCA446309526FBN2n.933A>C
n.1014A>C
c.4149A>C (p.Ser1383=)
c.699A>C (p.Ser233=)
c.4050A>C (p.Ser1350=)
c.4146A>C (p.Ser1382=)
c.3996A>C (p.Ser1332=)
dbSNP
5g.128332985T=CA1581268400FBN2n.933A=
n.1014A=
c.4149A= (p.Ser1383=)
c.699A= (p.Ser233=)
c.4050A= (p.Ser1350=)
c.4146A= (p.Ser1382=)
c.3996A= (p.Ser1332=)
5g.128332986G>ACA3395046FBN2n.932C>T
n.1013C>T
c.4148C>T (p.Ser1383Leu)
c.698C>T (p.Ser233Leu)
c.4049C>T (p.Ser1350Leu)
c.4145C>T (p.Ser1382Leu)
c.3995C>T (p.Ser1332Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.128332986G>CCA360755147FBN2n.932C>G
n.1013C>G
c.4148C>G (p.Ser1383Ter)
c.698C>G (p.Ser233Ter)
c.4049C>G (p.Ser1350Ter)
c.4145C>G (p.Ser1382Ter)
c.3995C>G (p.Ser1332Ter)
5g.128332986G=CA1581268401FBN2n.932C=
n.1013C=
c.4148C= (p.Ser1383=)
c.698C= (p.Ser233=)
c.4049C= (p.Ser1350=)
c.4145C= (p.Ser1382=)
c.3995C= (p.Ser1332=)
5g.128332986G>TCA360755148FBN2n.932C>A
n.1013C>A
c.4148C>A (p.Ser1383Ter)
c.698C>A (p.Ser233Ter)
c.4049C>A (p.Ser1350Ter)
c.4145C>A (p.Ser1382Ter)
c.3995C>A (p.Ser1332Ter)
5g.128332987A=CA1581268402FBN2n.931T=
n.1012T=
c.4147T= (p.Ser1383=)
c.697T= (p.Ser233=)
c.4048T= (p.Ser1350=)
c.4144T= (p.Ser1382=)
c.3994T= (p.Ser1332=)
5g.128332987A>CCA360755154FBN2n.931T>G
n.1012T>G
c.4147T>G (p.Ser1383Ala)
c.697T>G (p.Ser233Ala)
c.4048T>G (p.Ser1350Ala)
c.4144T>G (p.Ser1382Ala)
c.3994T>G (p.Ser1332Ala)
5g.128332987A>GCA127006994FBN2n.931T>C
n.1012T>C
c.4147T>C (p.Ser1383Pro)
c.697T>C (p.Ser233Pro)
c.4048T>C (p.Ser1350Pro)
c.4144T>C (p.Ser1382Pro)
c.3994T>C (p.Ser1332Pro)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.128332987A>TCA360755150FBN2n.931T>A
n.1012T>A
c.4147T>A (p.Ser1383Thr)
c.697T>A (p.Ser233Thr)
c.4048T>A (p.Ser1350Thr)
c.4144T>A (p.Ser1382Thr)
c.3994T>A (p.Ser1332Thr)
5g.128332988G>ACA446309527FBN2n.930C>T
n.1011C>T
c.4146C>T (p.Ala1382=)
c.696C>T (p.Ala232=)
c.4047C>T (p.Ala1349=)
c.4143C>T (p.Ala1381=)
c.3993C>T (p.Ala1331=)
gnomAD v4
5g.128332988G>CCA446309528FBN2n.930C>G
n.1011C>G
c.4146C>G (p.Ala1382=)
c.696C>G (p.Ala232=)
c.4047C>G (p.Ala1349=)
c.4143C>G (p.Ala1381=)
c.3993C>G (p.Ala1331=)
gnomAD v4
5g.128332988G>TCA446309529FBN2n.930C>A
n.1011C>A
c.4146C>A (p.Ala1382=)
c.696C>A (p.Ala232=)
c.4047C>A (p.Ala1349=)
c.4143C>A (p.Ala1381=)
c.3993C>A (p.Ala1331=)
5g.128332989G>ACA360755160FBN2n.929C>T
n.1010C>T
c.4145C>T (p.Ala1382Val)
c.695C>T (p.Ala232Val)
c.4046C>T (p.Ala1349Val)
c.4142C>T (p.Ala1381Val)
c.3992C>T (p.Ala1331Val)
gnomAD v4
5g.128332989G>CCA360755171FBN2n.929C>G
n.1010C>G
c.4145C>G (p.Ala1382Gly)
c.695C>G (p.Ala232Gly)
c.4046C>G (p.Ala1349Gly)
c.4142C>G (p.Ala1381Gly)
c.3992C>G (p.Ala1331Gly)
5g.128332989G>TCA360755175FBN2n.929C>A
n.1010C>A
c.4145C>A (p.Ala1382Asp)
c.695C>A (p.Ala232Asp)
c.4046C>A (p.Ala1349Asp)
c.4142C>A (p.Ala1381Asp)
c.3992C>A (p.Ala1331Asp)
5g.128332990C>ACA360755182FBN2n.928G>T
n.1009G>T
c.4144G>T (p.Ala1382Ser)
c.694G>T (p.Ala232Ser)
c.4045G>T (p.Ala1349Ser)
c.4141G>T (p.Ala1381Ser)
c.3991G>T (p.Ala1331Ser)
5g.128332990C>GCA360755185FBN2n.928G>C
n.1009G>C
c.4144G>C (p.Ala1382Pro)
c.694G>C (p.Ala232Pro)
c.4045G>C (p.Ala1349Pro)
c.4141G>C (p.Ala1381Pro)
c.3991G>C (p.Ala1331Pro)
5g.128332990C>TCA360755186FBN2n.928G>A
n.1009G>A
c.4144G>A (p.Ala1382Thr)
c.694G>A (p.Ala232Thr)
c.4045G>A (p.Ala1349Thr)
c.4141G>A (p.Ala1381Thr)
c.3991G>A (p.Ala1331Thr)
5g.128332991A>CCA360755188FBN2n.927T>G
n.1008T>G
c.4143T>G (p.His1381Gln)
c.693T>G (p.His231Gln)
c.4044T>G (p.His1348Gln)
c.4140T>G (p.His1380Gln)
c.3990T>G (p.His1330Gln)
5g.128332991A>GCA446309530FBN2n.927T>C
n.1008T>C
c.4143T>C (p.His1381=)
c.693T>C (p.His231=)
c.4044T>C (p.His1348=)
c.4140T>C (p.His1380=)
c.3990T>C (p.His1330=)
ClinVar
5g.128332991A>TCA360755187FBN2n.927T>A
n.1008T>A
c.4143T>A (p.His1381Gln)
c.693T>A (p.His231Gln)
c.4044T>A (p.His1348Gln)
c.4140T>A (p.His1380Gln)
c.3990T>A (p.His1330Gln)
5g.128332992T>ACA360755191FBN2n.926A>T
n.1007A>T
c.4142A>T (p.His1381Leu)
c.692A>T (p.His231Leu)
c.4043A>T (p.His1348Leu)
c.4139A>T (p.His1380Leu)
c.3989A>T (p.His1330Leu)
5g.128332992T>CCA360755199FBN2n.926A>G
n.1007A>G
c.4142A>G (p.His1381Arg)
c.692A>G (p.His231Arg)
c.4043A>G (p.His1348Arg)
c.4139A>G (p.His1380Arg)
c.3989A>G (p.His1330Arg)
dbSNP
5g.128332992T>GCA360755206FBN2n.926A>C
n.1007A>C
c.4142A>C (p.His1381Pro)
c.692A>C (p.His231Pro)
c.4043A>C (p.His1348Pro)
c.4139A>C (p.His1380Pro)
c.3989A>C (p.His1330Pro)
5g.128332992T=CA1581268403FBN2n.926A=
n.1007A=
c.4142A= (p.His1381=)
c.692A= (p.His231=)
c.4043A= (p.His1348=)
c.4139A= (p.His1380=)
c.3989A= (p.His1330=)
5g.128332993G>ACA360755210FBN2n.925C>T
n.1006C>T
c.4141C>T (p.His1381Tyr)
c.691C>T (p.His231Tyr)
c.4042C>T (p.His1348Tyr)
c.4138C>T (p.His1380Tyr)
c.3988C>T (p.His1330Tyr)
gnomAD v4
5g.128332993G>CCA360755211FBN2n.925C>G
n.1006C>G
c.4141C>G (p.His1381Asp)
c.691C>G (p.His231Asp)
c.4042C>G (p.His1348Asp)
c.4138C>G (p.His1380Asp)
c.3988C>G (p.His1330Asp)
5g.128332993G=CA1581268404FBN2n.925C=
n.1006C=
c.4141C= (p.His1381=)
c.691C= (p.His231=)
c.4042C= (p.His1348=)
c.4138C= (p.His1380=)
c.3988C= (p.His1330=)
5g.128332993G>TCA319740FBN2n.925C>A
n.1006C>A
c.4141C>A (p.His1381Asn)
c.691C>A (p.His231Asn)
c.4042C>A (p.His1348Asn)
c.4138C>A (p.His1380Asn)
c.3988C>A (p.His1330Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128332994C>ACA360755212FBN2n.924G>T
n.1005G>T
c.4140G>T (p.Met1380Ile)
c.690G>T (p.Met230Ile)
c.4041G>T (p.Met1347Ile)
c.4137G>T (p.Met1379Ile)
c.3987G>T (p.Met1329Ile)
COSMIC COSMIC
5g.128332994C=CA1581268405FBN2n.924G=
n.1005G=
c.4140G= (p.Met1380=)
c.690G= (p.Met230=)
c.4041G= (p.Met1347=)
c.4137G= (p.Met1379=)
c.3987G= (p.Met1329=)
5g.128332994C>GCA360755216FBN2n.924G>C
n.1005G>C
c.4140G>C (p.Met1380Ile)
c.690G>C (p.Met230Ile)
c.4041G>C (p.Met1347Ile)
c.4137G>C (p.Met1379Ile)
c.3987G>C (p.Met1329Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.128332994C>TCA360755213FBN2n.924G>A
n.1005G>A
c.4140G>A (p.Met1380Ile)
c.690G>A (p.Met230Ile)
c.4041G>A (p.Met1347Ile)
c.4137G>A (p.Met1379Ile)
c.3987G>A (p.Met1329Ile)
dbSNP COSMIC COSMIC
5g.128332995A>CCA360755221FBN2n.923T>G
n.1004T>G
c.4139T>G (p.Met1380Arg)
c.689T>G (p.Met230Arg)
c.4040T>G (p.Met1347Arg)
c.4136T>G (p.Met1379Arg)
c.3986T>G (p.Met1329Arg)
5g.128332995A>GCA360755224FBN2n.923T>C
n.1004T>C
c.4139T>C (p.Met1380Thr)
c.689T>C (p.Met230Thr)
c.4040T>C (p.Met1347Thr)
c.4136T>C (p.Met1379Thr)
c.3986T>C (p.Met1329Thr)
5g.128332995A>TCA360755227FBN2n.923T>A
n.1004T>A
c.4139T>A (p.Met1380Lys)
c.689T>A (p.Met230Lys)
c.4040T>A (p.Met1347Lys)
c.4136T>A (p.Met1379Lys)
c.3986T>A (p.Met1329Lys)
COSMIC COSMIC
5g.128332996T>ACA360755229FBN2n.922A>T
n.1003A>T
c.4138A>T (p.Met1380Leu)
c.688A>T (p.Met230Leu)
c.4039A>T (p.Met1347Leu)
c.4135A>T (p.Met1379Leu)
c.3985A>T (p.Met1329Leu)
5g.128332996T>CCA360755230FBN2n.922A>G
n.1003A>G
c.4138A>G (p.Met1380Val)
c.688A>G (p.Met230Val)
c.4039A>G (p.Met1347Val)
c.4135A>G (p.Met1379Val)
c.3985A>G (p.Met1329Val)
5g.128332996T>GCA360755233FBN2n.922A>C
n.1003A>C
c.4138A>C (p.Met1380Leu)
c.688A>C (p.Met230Leu)
c.4039A>C (p.Met1347Leu)
c.4135A>C (p.Met1379Leu)
c.3985A>C (p.Met1329Leu)
5g.128332997G>ACA446309531FBN2n.921C>T
n.1002C>T
c.4137C>T (p.Asp1379=)
c.687C>T (p.Asp229=)
c.4038C>T (p.Asp1346=)
c.4134C>T (p.Asp1378=)
c.3984C>T (p.Asp1328=)
gnomAD v4
5g.128332997G>CCA360755237FBN2n.921C>G
n.1002C>G
c.4137C>G (p.Asp1379Glu)
c.687C>G (p.Asp229Glu)
c.4038C>G (p.Asp1346Glu)
c.4134C>G (p.Asp1378Glu)
c.3984C>G (p.Asp1328Glu)
5g.128332997G>TCA360755241FBN2n.921C>A
n.1002C>A
c.4137C>A (p.Asp1379Glu)
c.687C>A (p.Asp229Glu)
c.4038C>A (p.Asp1346Glu)
c.4134C>A (p.Asp1378Glu)
c.3984C>A (p.Asp1328Glu)
5g.128332998T>ACA360755247FBN2n.920A>T
n.1001A>T
c.4136A>T (p.Asp1379Val)
c.686A>T (p.Asp229Val)
c.4037A>T (p.Asp1346Val)
c.4133A>T (p.Asp1378Val)
c.3983A>T (p.Asp1328Val)
5g.128332998T>CCA360755250FBN2n.920A>G
n.1001A>G
c.4136A>G (p.Asp1379Gly)
c.686A>G (p.Asp229Gly)
c.4037A>G (p.Asp1346Gly)
c.4133A>G (p.Asp1378Gly)
c.3983A>G (p.Asp1328Gly)
5g.128332998T>GCA360755254FBN2n.920A>C
n.1001A>C
c.4136A>C (p.Asp1379Ala)
c.686A>C (p.Asp229Ala)
c.4037A>C (p.Asp1346Ala)
c.4133A>C (p.Asp1378Ala)
c.3983A>C (p.Asp1328Ala)
5g.128332999C>ACA360755262FBN2n.919G>T
n.1000G>T
c.4135G>T (p.Asp1379Tyr)
c.685G>T (p.Asp229Tyr)
c.4036G>T (p.Asp1346Tyr)
c.4132G>T (p.Asp1378Tyr)
c.3982G>T (p.Asp1328Tyr)
gnomAD v4 COSMIC COSMIC
5g.128332999C=CA1581268406FBN2n.919G=
n.1000G=
c.4135G= (p.Asp1379=)
c.685G= (p.Asp229=)
c.4036G= (p.Asp1346=)
c.4132G= (p.Asp1378=)
c.3982G= (p.Asp1328=)
5g.128332999C>GCA360755268FBN2n.919G>C
n.1000G>C
c.4135G>C (p.Asp1379His)
c.685G>C (p.Asp229His)
c.4036G>C (p.Asp1346His)
c.4132G>C (p.Asp1378His)
c.3982G>C (p.Asp1328His)
ClinVar
5g.128332999C>TCA3395047FBN2n.919G>A
n.1000G>A
c.4135G>A (p.Asp1379Asn)
c.685G>A (p.Asp229Asn)
c.4036G>A (p.Asp1346Asn)
c.4132G>A (p.Asp1378Asn)
c.3982G>A (p.Asp1328Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128333000G>ACA3395048FBN2n.918C>T
n.999C>T
c.4134C>T (p.Cys1378=)
c.684C>T (p.Cys228=)
c.4035C>T (p.Cys1345=)
c.4131C>T (p.Cys1377=)
c.3981C>T (p.Cys1327=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128333000G>CCA360755273FBN2n.918C>G
n.999C>G
c.4134C>G (p.Cys1378Trp)
c.684C>G (p.Cys228Trp)
c.4035C>G (p.Cys1345Trp)
c.4131C>G (p.Cys1377Trp)
c.3981C>G (p.Cys1327Trp)
5g.128333000G=CA1581268407FBN2n.918C=
n.999C=
c.4134C= (p.Cys1378=)
c.684C= (p.Cys228=)
c.4035C= (p.Cys1345=)
c.4131C= (p.Cys1377=)
c.3981C= (p.Cys1327=)
5g.128333000G>TCA360755276FBN2n.918C>A
n.999C>A
c.4134C>A (p.Cys1378Ter)
c.684C>A (p.Cys228Ter)
c.4035C>A (p.Cys1345Ter)
c.4131C>A (p.Cys1377Ter)
c.3981C>A (p.Cys1327Ter)
ClinVar gnomAD v4
5g.128333001C>ACA360755280FBN2n.917G>T
n.998G>T
c.4133G>T (p.Cys1378Phe)
c.683G>T (p.Cys228Phe)
c.4034G>T (p.Cys1345Phe)
c.4130G>T (p.Cys1377Phe)
c.3980G>T (p.Cys1327Phe)
dbSNP gnomAD v3 gnomAD v4
5g.128333001C=CA1581268408FBN2n.917G=
n.998G=
c.4133G= (p.Cys1378=)
c.683G= (p.Cys228=)
c.4034G= (p.Cys1345=)
c.4130G= (p.Cys1377=)
c.3980G= (p.Cys1327=)
5g.128333001C>GCA360755282FBN2n.917G>C
n.998G>C
c.4133G>C (p.Cys1378Ser)
c.683G>C (p.Cys228Ser)
c.4034G>C (p.Cys1345Ser)
c.4130G>C (p.Cys1377Ser)
c.3980G>C (p.Cys1327Ser)
5g.128333001C>TCA360755284FBN2n.917G>A
n.998G>A
c.4133G>A (p.Cys1378Tyr)
c.683G>A (p.Cys228Tyr)
c.4034G>A (p.Cys1345Tyr)
c.4130G>A (p.Cys1377Tyr)
c.3980G>A (p.Cys1327Tyr)
5g.128333002A=CA1581268409FBN2n.916T=
n.997T=
c.4132T= (p.Cys1378=)
c.682T= (p.Cys228=)
c.4033T= (p.Cys1345=)
c.4129T= (p.Cys1377=)
c.3979T= (p.Cys1327=)
5g.128333002A>CCA360755291FBN2n.916T>G
n.997T>G
c.4132T>G (p.Cys1378Gly)
c.682T>G (p.Cys228Gly)
c.4033T>G (p.Cys1345Gly)
c.4129T>G (p.Cys1377Gly)
c.3979T>G (p.Cys1327Gly)
5g.128333002A>GCA324975FBN2n.916T>C
n.997T>C
c.4132T>C (p.Cys1378Arg)
c.682T>C (p.Cys228Arg)
c.4033T>C (p.Cys1345Arg)
c.4129T>C (p.Cys1377Arg)
c.3979T>C (p.Cys1327Arg)
ClinVar dbSNP
5g.128333002A>TCA360755288FBN2n.916T>A
n.997T>A
c.4132T>A (p.Cys1378Ser)
c.682T>A (p.Cys228Ser)
c.4033T>A (p.Cys1345Ser)
c.4129T>A (p.Cys1377Ser)
c.3979T>A (p.Cys1327Ser)
5g.128333003G>ACA446309532FBN2n.915C>T
n.996C>T
c.4131C>T (p.Asn1377=)
c.681C>T (p.Asn227=)
c.4032C>T (p.Asn1344=)
c.4128C>T (p.Asn1376=)
c.3978C>T (p.Asn1326=)
gnomAD v4
5g.128333003G>CCA360755293FBN2n.915C>G
n.996C>G
c.4131C>G (p.Asn1377Lys)
c.681C>G (p.Asn227Lys)
c.4032C>G (p.Asn1344Lys)
c.4128C>G (p.Asn1376Lys)
c.3978C>G (p.Asn1326Lys)
5g.128333003G=CA1581268410FBN2n.915C=
n.996C=
c.4131C= (p.Asn1377=)
c.681C= (p.Asn227=)
c.4032C= (p.Asn1344=)
c.4128C= (p.Asn1376=)
c.3978C= (p.Asn1326=)
5g.128333003G>TCA360755296FBN2n.915C>A
n.996C>A
c.4131C>A (p.Asn1377Lys)
c.681C>A (p.Asn227Lys)
c.4032C>A (p.Asn1344Lys)
c.4128C>A (p.Asn1376Lys)
c.3978C>A (p.Asn1326Lys)
dbSNP gnomAD v3 gnomAD v4
5g.128333004T>ACA360755299FBN2n.914A>T
n.995A>T
c.4130A>T (p.Asn1377Ile)
c.680A>T (p.Asn227Ile)
c.4031A>T (p.Asn1344Ile)
c.4127A>T (p.Asn1376Ile)
c.3977A>T (p.Asn1326Ile)
5g.128333004T>CCA360755300FBN2n.914A>G
n.995A>G
c.4130A>G (p.Asn1377Ser)
c.680A>G (p.Asn227Ser)
c.4031A>G (p.Asn1344Ser)
c.4127A>G (p.Asn1376Ser)
c.3977A>G (p.Asn1326Ser)
5g.128333004T>GCA360755301FBN2n.914A>C
n.995A>C
c.4130A>C (p.Asn1377Thr)
c.680A>C (p.Asn227Thr)
c.4031A>C (p.Asn1344Thr)
c.4127A>C (p.Asn1376Thr)
c.3977A>C (p.Asn1326Thr)
5g.128333005T>ACA360755304FBN2n.913A>T
n.994A>T
c.4129A>T (p.Asn1377Tyr)
c.679A>T (p.Asn227Tyr)
c.4030A>T (p.Asn1344Tyr)
c.4126A>T (p.Asn1376Tyr)
c.3976A>T (p.Asn1326Tyr)
5g.128333005T>CCA360755302FBN2n.913A>G
n.994A>G
c.4129A>G (p.Asn1377Asp)
c.679A>G (p.Asn227Asp)
c.4030A>G (p.Asn1344Asp)
c.4126A>G (p.Asn1376Asp)
c.3976A>G (p.Asn1326Asp)
5g.128333005T>GCA360755303FBN2n.913A>C
n.994A>C
c.4129A>C (p.Asn1377His)
c.679A>C (p.Asn227His)
c.4030A>C (p.Asn1344His)
c.4126A>C (p.Asn1376His)
c.3976A>C (p.Asn1326His)
5g.128333006A>CCA360755306FBN2n.912T>G
n.993T>G
c.4128T>G (p.His1376Gln)
c.678T>G (p.His226Gln)
c.4029T>G (p.His1343Gln)
c.4125T>G (p.His1375Gln)
c.3975T>G (p.His1325Gln)
gnomAD v4
5g.128333006A>GCA446309533FBN2n.912T>C
n.993T>C
c.4128T>C (p.His1376=)
c.678T>C (p.His226=)
c.4029T>C (p.His1343=)
c.4125T>C (p.His1375=)
c.3975T>C (p.His1325=)
5g.128333006A>TCA360755308FBN2n.912T>A
n.993T>A
c.4128T>A (p.His1376Gln)
c.678T>A (p.His226Gln)
c.4029T>A (p.His1343Gln)
c.4125T>A (p.His1375Gln)
c.3975T>A (p.His1325Gln)
5g.128333007T>ACA360755312FBN2n.911A>T
n.992A>T
c.4127A>T (p.His1376Leu)
c.677A>T (p.His226Leu)
c.4028A>T (p.His1343Leu)
c.4124A>T (p.His1375Leu)
c.3974A>T (p.His1325Leu)
dbSNP
5g.128333007T>CCA360755315FBN2n.911A>G
n.992A>G
c.4127A>G (p.His1376Arg)
c.677A>G (p.His226Arg)
c.4028A>G (p.His1343Arg)
c.4124A>G (p.His1375Arg)
c.3974A>G (p.His1325Arg)
ClinVar dbSNP
5g.128333007T>GCA360755319FBN2n.911A>C
n.992A>C
c.4127A>C (p.His1376Pro)
c.677A>C (p.His226Pro)
c.4028A>C (p.His1343Pro)
c.4124A>C (p.His1375Pro)
c.3974A>C (p.His1325Pro)
gnomAD v4
5g.128333007T=CA1581268411FBN2n.911A=
n.992A=
c.4127A= (p.His1376=)
c.677A= (p.His226=)
c.4028A= (p.His1343=)
c.4124A= (p.His1375=)
c.3974A= (p.His1325=)
5g.128333008G>ACA3395049FBN2n.910C>T
n.991C>T
c.4126C>T (p.His1376Tyr)
c.676C>T (p.His226Tyr)
c.4027C>T (p.His1343Tyr)
c.4123C>T (p.His1375Tyr)
c.3973C>T (p.His1325Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128333008G>CCA360755330FBN2n.910C>G
n.991C>G
c.4126C>G (p.His1376Asp)
c.676C>G (p.His226Asp)
c.4027C>G (p.His1343Asp)
c.4123C>G (p.His1375Asp)
c.3973C>G (p.His1325Asp)
5g.128333008G=CA1581268412FBN2n.910C=
n.991C=
c.4126C= (p.His1376=)
c.676C= (p.His226=)
c.4027C= (p.His1343=)
c.4123C= (p.His1375=)
c.3973C= (p.His1325=)
5g.128333008G>TCA360755327FBN2n.910C>A
n.991C>A
c.4126C>A (p.His1376Asn)
c.676C>A (p.His226Asn)
c.4027C>A (p.His1343Asn)
c.4123C>A (p.His1375Asn)
c.3973C>A (p.His1325Asn)
5g.128333009A>CCA446309536FBN2n.909T>G
n.990T>G
c.4125T>G (p.Ala1375=)
c.675T>G (p.Ala225=)
c.4026T>G (p.Ala1342=)
c.4122T>G (p.Ala1374=)
c.3972T>G (p.Ala1324=)
5g.128333009A>GCA446309535FBN2n.909T>C
n.990T>C
c.4125T>C (p.Ala1375=)
c.675T>C (p.Ala225=)
c.4026T>C (p.Ala1342=)
c.4122T>C (p.Ala1374=)
c.3972T>C (p.Ala1324=)
5g.128333009A>TCA446309534FBN2n.909T>A
n.990T>A
c.4125T>A (p.Ala1375=)
c.675T>A (p.Ala225=)
c.4026T>A (p.Ala1342=)
c.4122T>A (p.Ala1374=)
c.3972T>A (p.Ala1324=)
5g.128333010G>ACA3395050FBN2n.908C>T
n.989C>T
c.4124C>T (p.Ala1375Val)
c.674C>T (p.Ala225Val)
c.4025C>T (p.Ala1342Val)
c.4121C>T (p.Ala1374Val)
c.3971C>T (p.Ala1324Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128333010G>CCA360755332FBN2n.908C>G
n.989C>G
c.4124C>G (p.Ala1375Gly)
c.674C>G (p.Ala225Gly)
c.4025C>G (p.Ala1342Gly)
c.4121C>G (p.Ala1374Gly)
c.3971C>G (p.Ala1324Gly)
5g.128333010G=CA1581268413FBN2n.908C=
n.989C=
c.4124C= (p.Ala1375=)
c.674C= (p.Ala225=)
c.4025C= (p.Ala1342=)
c.4121C= (p.Ala1374=)
c.3971C= (p.Ala1324=)
5g.128333010G>TCA360755333FBN2n.908C>A
n.989C>A
c.4124C>A (p.Ala1375Asp)
c.674C>A (p.Ala225Asp)
c.4025C>A (p.Ala1342Asp)
c.4121C>A (p.Ala1374Asp)
c.3971C>A (p.Ala1324Asp)
5g.128333011C>ACA360755338FBN2n.907G>T
n.988G>T
c.4123G>T (p.Ala1375Ser)
c.673G>T (p.Ala225Ser)
c.4024G>T (p.Ala1342Ser)
c.4120G>T (p.Ala1374Ser)
c.3970G>T (p.Ala1324Ser)
5g.128333011C>GCA360755342FBN2n.907G>C
n.988G>C
c.4123G>C (p.Ala1375Pro)
c.673G>C (p.Ala225Pro)
c.4024G>C (p.Ala1342Pro)
c.4120G>C (p.Ala1374Pro)
c.3970G>C (p.Ala1324Pro)
5g.128333011C>TCA360755344FBN2n.907G>A
n.988G>A
c.4123G>A (p.Ala1375Thr)
c.673G>A (p.Ala225Thr)
c.4024G>A (p.Ala1342Thr)
c.4120G>A (p.Ala1374Thr)
c.3970G>A (p.Ala1324Thr)
5g.128333012A>CCA446309537FBN2n.906T>G
n.987T>G
c.4122T>G (p.Gly1374=)
c.672T>G (p.Gly224=)
c.4023T>G (p.Gly1341=)
c.4119T>G (p.Gly1373=)
c.3969T>G (p.Gly1323=)
ClinVar dbSNP gnomAD v4
5g.128333012A>GCA446309538FBN2n.906T>C
n.987T>C
c.4122T>C (p.Gly1374=)
c.672T>C (p.Gly224=)
c.4023T>C (p.Gly1341=)
c.4119T>C (p.Gly1373=)
c.3969T>C (p.Gly1323=)
5g.128333012A>TCA446309539FBN2n.906T>A
n.987T>A
c.4122T>A (p.Gly1374=)
c.672T>A (p.Gly224=)
c.4023T>A (p.Gly1341=)
c.4119T>A (p.Gly1373=)
c.3969T>A (p.Gly1323=)
5g.128333013C>ACA360755347FBN2n.905G>T
n.986G>T
c.4121G>T (p.Gly1374Val)
c.671G>T (p.Gly224Val)
c.4022G>T (p.Gly1341Val)
c.4118G>T (p.Gly1373Val)
c.3968G>T (p.Gly1323Val)
ClinVar dbSNP
5g.128333013C>GCA360755351FBN2n.905G>C
n.986G>C
c.4121G>C (p.Gly1374Ala)
c.671G>C (p.Gly224Ala)
c.4022G>C (p.Gly1341Ala)
c.4118G>C (p.Gly1373Ala)
c.3968G>C (p.Gly1323Ala)
gnomAD v4
5g.128333013C>TCA360755350FBN2n.905G>A
n.986G>A
c.4121G>A (p.Gly1374Asp)
c.671G>A (p.Gly224Asp)
c.4022G>A (p.Gly1341Asp)
c.4118G>A (p.Gly1373Asp)
c.3968G>A (p.Gly1323Asp)
5g.128333014C>ACA360755352FBN2n.904G>T
n.985G>T
c.4120G>T (p.Gly1374Cys)
c.670G>T (p.Gly224Cys)
c.4021G>T (p.Gly1341Cys)
c.4117G>T (p.Gly1373Cys)
c.3967G>T (p.Gly1323Cys)
5g.128333014C>GCA360755353FBN2n.904G>C
n.985G>C
c.4120G>C (p.Gly1374Arg)
c.670G>C (p.Gly224Arg)
c.4021G>C (p.Gly1341Arg)
c.4117G>C (p.Gly1373Arg)
c.3967G>C (p.Gly1323Arg)
5g.128333014C>TCA360755354FBN2n.904G>A
n.985G>A
c.4120G>A (p.Gly1374Ser)
c.670G>A (p.Gly224Ser)
c.4021G>A (p.Gly1341Ser)
c.4117G>A (p.Gly1373Ser)
c.3967G>A (p.Gly1323Ser)
gnomAD v4
5g.128333015A>CCA360755358FBN2n.903T>G
n.984T>G
c.4119T>G (p.Ile1373Met)
c.669T>G (p.Ile223Met)
c.4020T>G (p.Ile1340Met)
c.4116T>G (p.Ile1372Met)
c.3966T>G (p.Ile1322Met)
5g.128333015A>GCA446309541FBN2n.903T>C
n.984T>C
c.4119T>C (p.Ile1373=)
c.669T>C (p.Ile223=)
c.4020T>C (p.Ile1340=)
c.4116T>C (p.Ile1372=)
c.3966T>C (p.Ile1322=)
5g.128333015A>TCA446309540FBN2n.903T>A
n.984T>A
c.4119T>A (p.Ile1373=)
c.669T>A (p.Ile223=)
c.4020T>A (p.Ile1340=)
c.4116T>A (p.Ile1372=)
c.3966T>A (p.Ile1322=)
5g.128333016A=CA1581268414FBN2n.902T=
n.983T=
c.4118T= (p.Ile1373=)
c.668T= (p.Ile223=)
c.4019T= (p.Ile1340=)
c.4115T= (p.Ile1372=)
c.3965T= (p.Ile1322=)
5g.128333016A>CCA360755362FBN2n.902T>G
n.983T>G
c.4118T>G (p.Ile1373Ser)
c.668T>G (p.Ile223Ser)
c.4019T>G (p.Ile1340Ser)
c.4115T>G (p.Ile1372Ser)
c.3965T>G (p.Ile1322Ser)
5g.128333016A>GCA127007021FBN2n.902T>C
n.983T>C
c.4118T>C (p.Ile1373Thr)
c.668T>C (p.Ile223Thr)
c.4019T>C (p.Ile1340Thr)
c.4115T>C (p.Ile1372Thr)
c.3965T>C (p.Ile1322Thr)
ClinVar dbSNP gnomAD v4
5g.128333016A>TCA360755366FBN2n.902T>A
n.983T>A
c.4118T>A (p.Ile1373Asn)
c.668T>A (p.Ile223Asn)
c.4019T>A (p.Ile1340Asn)
c.4115T>A (p.Ile1372Asn)
c.3965T>A (p.Ile1322Asn)
5g.128333017T>ACA360755369FBN2n.901A>T
n.982A>T
c.4117A>T (p.Ile1373Phe)
c.667A>T (p.Ile223Phe)
c.4018A>T (p.Ile1340Phe)
c.4114A>T (p.Ile1372Phe)
c.3964A>T (p.Ile1322Phe)
5g.128333017T>CCA360755373FBN2n.901A>G
n.982A>G
c.4117A>G (p.Ile1373Val)
c.667A>G (p.Ile223Val)
c.4018A>G (p.Ile1340Val)
c.4114A>G (p.Ile1372Val)
c.3964A>G (p.Ile1322Val)
5g.128333017T>GCA360755378FBN2n.901A>C
n.982A>C
c.4117A>C (p.Ile1373Leu)
c.667A>C (p.Ile223Leu)
c.4018A>C (p.Ile1340Leu)
c.4114A>C (p.Ile1372Leu)
c.3964A>C (p.Ile1322Leu)
5g.128333018T>ACA360755386FBN2n.900A>T
n.981A>T
c.4116A>T (p.Glu1372Asp)
c.666A>T (p.Glu222Asp)
c.4017A>T (p.Glu1339Asp)
c.4113A>T (p.Glu1371Asp)
c.3963A>T (p.Glu1321Asp)
5g.128333018T>CCA446309543FBN2n.900A>G
n.981A>G
c.4116A>G (p.Glu1372=)
c.666A>G (p.Glu222=)
c.4017A>G (p.Glu1339=)
c.4113A>G (p.Glu1371=)
c.3963A>G (p.Glu1321=)
5g.128333018T>GCA360755387FBN2n.900A>C
n.981A>C
c.4116A>C (p.Glu1372Asp)
c.666A>C (p.Glu222Asp)
c.4017A>C (p.Glu1339Asp)
c.4113A>C (p.Glu1371Asp)
c.3963A>C (p.Glu1321Asp)
5g.128333019T>ACA360755394FBN2n.899A>T
n.980A>T
c.4115A>T (p.Glu1372Val)
c.665A>T (p.Glu222Val)
c.4016A>T (p.Glu1339Val)
c.4112A>T (p.Glu1371Val)
c.3962A>T (p.Glu1321Val)
5g.128333019T>CCA360755397FBN2n.899A>G
n.980A>G
c.4115A>G (p.Glu1372Gly)
c.665A>G (p.Glu222Gly)
c.4016A>G (p.Glu1339Gly)
c.4112A>G (p.Glu1371Gly)
c.3962A>G (p.Glu1321Gly)
5g.128333019T>GCA360755389FBN2n.899A>C
n.980A>C
c.4115A>C (p.Glu1372Ala)
c.665A>C (p.Glu222Ala)
c.4016A>C (p.Glu1339Ala)
c.4112A>C (p.Glu1371Ala)
c.3962A>C (p.Glu1321Ala)
5g.128333020C>ACA360755401FBN2n.898G>T
n.979G>T
c.4114G>T (p.Glu1372Ter)
c.664G>T (p.Glu222Ter)
c.4015G>T (p.Glu1339Ter)
c.4111G>T (p.Glu1371Ter)
c.3961G>T (p.Glu1321Ter)
5g.128333020C>GCA360755404FBN2n.898G>C
n.979G>C
c.4114G>C (p.Glu1372Gln)
c.664G>C (p.Glu222Gln)
c.4015G>C (p.Glu1339Gln)
c.4111G>C (p.Glu1371Gln)
c.3961G>C (p.Glu1321Gln)
5g.128333020C>TCA360755411FBN2n.898G>A
n.979G>A
c.4114G>A (p.Glu1372Lys)
c.664G>A (p.Glu222Lys)
c.4015G>A (p.Glu1339Lys)
c.4111G>A (p.Glu1371Lys)
c.3961G>A (p.Glu1321Lys)
5g.128333021A>CCA360755413FBN2n.897T>G
n.978T>G
c.4113T>G (p.Cys1371Trp)
c.663T>G (p.Cys221Trp)
c.4014T>G (p.Cys1338Trp)
c.4110T>G (p.Cys1370Trp)
c.3960T>G (p.Cys1320Trp)
5g.128333021A>GCA446309544FBN2n.897T>C
n.978T>C
c.4113T>C (p.Cys1371=)
c.663T>C (p.Cys221=)
c.4014T>C (p.Cys1338=)
c.4110T>C (p.Cys1370=)
c.3960T>C (p.Cys1320=)
5g.128333021A>TCA360755415FBN2n.897T>A
n.978T>A
c.4113T>A (p.Cys1371Ter)
c.663T>A (p.Cys221Ter)
c.4014T>A (p.Cys1338Ter)
c.4110T>A (p.Cys1370Ter)
c.3960T>A (p.Cys1320Ter)
5g.128333022C>ACA360755426FBN2n.896G>T
n.977G>T
c.4112G>T (p.Cys1371Phe)
c.662G>T (p.Cys221Phe)
c.4013G>T (p.Cys1338Phe)
c.4109G>T (p.Cys1370Phe)
c.3959G>T (p.Cys1320Phe)
ClinVar
5g.128333022C>GCA360755423FBN2n.896G>C
n.977G>C
c.4112G>C (p.Cys1371Ser)
c.662G>C (p.Cys221Ser)
c.4013G>C (p.Cys1338Ser)
c.4109G>C (p.Cys1370Ser)
c.3959G>C (p.Cys1320Ser)
5g.128333022C>TCA360755425FBN2n.896G>A
n.977G>A
c.4112G>A (p.Cys1371Tyr)
c.662G>A (p.Cys221Tyr)
c.4013G>A (p.Cys1338Tyr)
c.4109G>A (p.Cys1370Tyr)
c.3959G>A (p.Cys1320Tyr)
5g.128333023A>CCA360755427FBN2n.895T>G
n.976T>G
c.4111T>G (p.Cys1371Gly)
c.661T>G (p.Cys221Gly)
c.4012T>G (p.Cys1338Gly)
c.4108T>G (p.Cys1370Gly)
c.3958T>G (p.Cys1320Gly)
5g.128333023A>GCA360755428FBN2n.895T>C
n.976T>C
c.4111T>C (p.Cys1371Arg)
c.661T>C (p.Cys221Arg)
c.4012T>C (p.Cys1338Arg)
c.4108T>C (p.Cys1370Arg)
c.3958T>C (p.Cys1320Arg)
5g.128333023A>TCA360755430FBN2n.895T>A
n.976T>A
c.4111T>A (p.Cys1371Ser)
c.661T>A (p.Cys221Ser)
c.4012T>A (p.Cys1338Ser)
c.4108T>A (p.Cys1370Ser)
c.3958T>A (p.Cys1320Ser)
5g.128333024C>ACA360755436FBN2n.894G>T
n.975G>T
c.4110G>T (p.Glu1370Asp)
c.660G>T (p.Glu220Asp)
c.4011G>T (p.Glu1337Asp)
c.4107G>T (p.Glu1369Asp)
c.3957G>T (p.Glu1319Asp)
5g.128333024C=CA1581268415FBN2n.894G=
n.975G=
c.4110G= (p.Glu1370=)
c.660G= (p.Glu220=)
c.4011G= (p.Glu1337=)
c.4107G= (p.Glu1369=)
c.3957G= (p.Glu1319=)
5g.128333024C>GCA360755442FBN2n.894G>C
n.975G>C
c.4110G>C (p.Glu1370Asp)
c.660G>C (p.Glu220Asp)
c.4011G>C (p.Glu1337Asp)
c.4107G>C (p.Glu1369Asp)
c.3957G>C (p.Glu1319Asp)
dbSNP gnomAD v2 gnomAD v4
5g.128333024C>TCA446309546FBN2n.894G>A
n.975G>A
c.4110G>A (p.Glu1370=)
c.660G>A (p.Glu220=)
c.4011G>A (p.Glu1337=)
c.4107G>A (p.Glu1369=)
c.3957G>A (p.Glu1319=)
ClinVar dbSNP
5g.128333025T>ACA360755453FBN2n.893A>T
n.974A>T
c.4109A>T (p.Glu1370Val)
c.659A>T (p.Glu220Val)
c.4010A>T (p.Glu1337Val)
c.4106A>T (p.Glu1369Val)
c.3956A>T (p.Glu1319Val)
5g.128333025T>CCA360755461FBN2n.893A>G
n.974A>G
c.4109A>G (p.Glu1370Gly)
c.659A>G (p.Glu220Gly)
c.4010A>G (p.Glu1337Gly)
c.4106A>G (p.Glu1369Gly)
c.3956A>G (p.Glu1319Gly)
5g.128333025T>GCA360755457FBN2n.893A>C
n.974A>C
c.4109A>C (p.Glu1370Ala)
c.659A>C (p.Glu220Ala)
c.4010A>C (p.Glu1337Ala)
c.4106A>C (p.Glu1369Ala)
c.3956A>C (p.Glu1319Ala)
5g.128333026C>ACA360755471FBN2n.892G>T
n.973G>T
c.4108G>T (p.Glu1370Ter)
c.658G>T (p.Glu220Ter)
c.4009G>T (p.Glu1337Ter)
c.4105G>T (p.Glu1369Ter)
c.3955G>T (p.Glu1319Ter)
5g.128333026C>GCA360755475FBN2n.892G>C
n.973G>C
c.4108G>C (p.Glu1370Gln)
c.658G>C (p.Glu220Gln)
c.4009G>C (p.Glu1337Gln)
c.4105G>C (p.Glu1369Gln)
c.3955G>C (p.Glu1319Gln)
5g.128333026C>TCA360755474FBN2n.892G>A
n.973G>A
c.4108G>A (p.Glu1370Lys)
c.658G>A (p.Glu220Lys)
c.4009G>A (p.Glu1337Lys)
c.4105G>A (p.Glu1369Lys)
c.3955G>A (p.Glu1319Lys)
5g.128333027A>CCA360755476FBN2n.891T>G
n.972T>G
c.4107T>G (p.Asp1369Glu)
c.657T>G (p.Asp219Glu)
c.4008T>G (p.Asp1336Glu)
c.4104T>G (p.Asp1368Glu)
c.3954T>G (p.Asp1318Glu)
5g.128333027A>GCA446309547FBN2n.891T>C
n.972T>C
c.4107T>C (p.Asp1369=)
c.657T>C (p.Asp219=)
c.4008T>C (p.Asp1336=)
c.4104T>C (p.Asp1368=)
c.3954T>C (p.Asp1318=)
5g.128333027A>TCA360755477FBN2n.891T>A
n.972T>A
c.4107T>A (p.Asp1369Glu)
c.657T>A (p.Asp219Glu)
c.4008T>A (p.Asp1336Glu)
c.4104T>A (p.Asp1368Glu)
c.3954T>A (p.Asp1318Glu)
5g.128333028T>ACA360755481FBN2n.890A>T
n.971A>T
c.4106A>T (p.Asp1369Val)
c.656A>T (p.Asp219Val)
c.4007A>T (p.Asp1336Val)
c.4103A>T (p.Asp1368Val)
c.3953A>T (p.Asp1318Val)
5g.128333028T>CCA360755484FBN2n.890A>G
n.971A>G
c.4106A>G (p.Asp1369Gly)
c.656A>G (p.Asp219Gly)
c.4007A>G (p.Asp1336Gly)
c.4103A>G (p.Asp1368Gly)
c.3953A>G (p.Asp1318Gly)
5g.128333028T>GCA360755495FBN2n.890A>C
n.971A>C
c.4106A>C (p.Asp1369Ala)
c.656A>C (p.Asp219Ala)
c.4007A>C (p.Asp1336Ala)
c.4103A>C (p.Asp1368Ala)
c.3953A>C (p.Asp1318Ala)
5g.128333029C>ACA360755499FBN2n.889G>T
n.970G>T
c.4105G>T (p.Asp1369Tyr)
c.655G>T (p.Asp219Tyr)
c.4006G>T (p.Asp1336Tyr)
c.4102G>T (p.Asp1368Tyr)
c.3952G>T (p.Asp1318Tyr)
5g.128333029C>GCA360755500FBN2n.889G>C
n.970G>C
c.4105G>C (p.Asp1369His)
c.655G>C (p.Asp219His)
c.4006G>C (p.Asp1336His)
c.4102G>C (p.Asp1368His)
c.3952G>C (p.Asp1318His)
5g.128333029C>TCA360755502FBN2n.889G>A
n.970G>A
c.4105G>A (p.Asp1369Asn)
c.655G>A (p.Asp219Asn)
c.4006G>A (p.Asp1336Asn)
c.4102G>A (p.Asp1368Asn)
c.3952G>A (p.Asp1318Asn)
gnomAD v4
5g.128333030C>ACA446309548FBN2n.888G>T
n.969G>T
c.4104G>T (p.Val1368=)
c.654G>T (p.Val218=)
c.4005G>T (p.Val1335=)
c.4101G>T (p.Val1367=)
c.3951G>T (p.Val1317=)
5g.128333030C>GCA446309549FBN2n.888G>C
n.969G>C
c.4104G>C (p.Val1368=)
c.654G>C (p.Val218=)
c.4005G>C (p.Val1335=)
c.4101G>C (p.Val1367=)
c.3951G>C (p.Val1317=)
5g.128333030C>TCA446309550FBN2n.888G>A
n.969G>A
c.4104G>A (p.Val1368=)
c.654G>A (p.Val218=)
c.4005G>A (p.Val1335=)
c.4101G>A (p.Val1367=)
c.3951G>A (p.Val1317=)
gnomAD v4
5g.128333031A=CA1581268416FBN2n.887T=
n.968T=
c.4103T= (p.Val1368=)
c.653T= (p.Val218=)
c.4004T= (p.Val1335=)
c.4100T= (p.Val1367=)
c.3950T= (p.Val1317=)
5g.128333031A>CCA360755504FBN2n.887T>G
n.968T>G
c.4103T>G (p.Val1368Gly)
c.653T>G (p.Val218Gly)
c.4004T>G (p.Val1335Gly)
c.4100T>G (p.Val1367Gly)
c.3950T>G (p.Val1317Gly)
5g.128333031A>GCA3395051FBN2n.887T>C
n.968T>C
c.4103T>C (p.Val1368Ala)
c.653T>C (p.Val218Ala)
c.4004T>C (p.Val1335Ala)
c.4100T>C (p.Val1367Ala)
c.3950T>C (p.Val1317Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128333031A>TCA360755508FBN2n.887T>A
n.968T>A
c.4103T>A (p.Val1368Glu)
c.653T>A (p.Val218Glu)
c.4004T>A (p.Val1335Glu)
c.4100T>A (p.Val1367Glu)
c.3950T>A (p.Val1317Glu)
5g.128333032C>ACA360755513FBN2n.886G>T
n.967G>T
c.4102G>T (p.Val1368Leu)
c.652G>T (p.Val218Leu)
c.4003G>T (p.Val1335Leu)
c.4099G>T (p.Val1367Leu)
c.3949G>T (p.Val1317Leu)
5g.128333032C=CA1581268417FBN2n.886G=
n.967G=
c.4102G= (p.Val1368=)
c.652G= (p.Val218=)
c.4003G= (p.Val1335=)
c.4099G= (p.Val1367=)
c.3949G= (p.Val1317=)
5g.128333032C>GCA360755512FBN2n.886G>C
n.967G>C
c.4102G>C (p.Val1368Leu)
c.652G>C (p.Val218Leu)
c.4003G>C (p.Val1335Leu)
c.4099G>C (p.Val1367Leu)
c.3949G>C (p.Val1317Leu)
5g.128333032C>TCA322688FBN2n.886G>A
n.967G>A
c.4102G>A (p.Val1368Met)
c.652G>A (p.Val218Met)
c.4003G>A (p.Val1335Met)
c.4099G>A (p.Val1367Met)
c.3949G>A (p.Val1317Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128333033A=CA1581268418FBN2n.885T=
n.966T=
c.4101T= (p.Asp1367=)
c.651T= (p.Asp217=)
c.4002T= (p.Asp1334=)
c.4098T= (p.Asp1366=)
c.3948T= (p.Asp1316=)
5g.128333033A>CCA360755516FBN2n.885T>G
n.966T>G
c.4101T>G (p.Asp1367Glu)
c.651T>G (p.Asp217Glu)
c.4002T>G (p.Asp1334Glu)
c.4098T>G (p.Asp1366Glu)
c.3948T>G (p.Asp1316Glu)
5g.128333033A>GCA446309551FBN2n.885T>C
n.966T>C
c.4101T>C (p.Asp1367=)
c.651T>C (p.Asp217=)
c.4002T>C (p.Asp1334=)
c.4098T>C (p.Asp1366=)
c.3948T>C (p.Asp1316=)
5g.128333033A>TCA360755519FBN2n.885T>A
n.966T>A
c.4101T>A (p.Asp1367Glu)
c.651T>A (p.Asp217Glu)
c.4002T>A (p.Asp1334Glu)
c.4098T>A (p.Asp1366Glu)
c.3948T>A (p.Asp1316Glu)
dbSNP gnomAD v2 gnomAD v4
5g.128333034T>ACA360755540FBN2n.884A>T
n.965A>T
c.4100A>T (p.Asp1367Val)
c.650A>T (p.Asp217Val)
c.4001A>T (p.Asp1334Val)
c.4097A>T (p.Asp1366Val)
c.3947A>T (p.Asp1316Val)
ClinVar dbSNP
5g.128333034T>CCA360755546FBN2n.884A>G
n.965A>G
c.4100A>G (p.Asp1367Gly)
c.650A>G (p.Asp217Gly)
c.4001A>G (p.Asp1334Gly)
c.4097A>G (p.Asp1366Gly)
c.3947A>G (p.Asp1316Gly)
5g.128333034T>GCA360755549FBN2n.884A>C
n.965A>C
c.4100A>C (p.Asp1367Ala)
c.650A>C (p.Asp217Ala)
c.4001A>C (p.Asp1334Ala)
c.4097A>C (p.Asp1366Ala)
c.3947A>C (p.Asp1316Ala)
5g.128333034T=CA1581268419FBN2n.884A=
n.965A=
c.4100A= (p.Asp1367=)
c.650A= (p.Asp217=)
c.4001A= (p.Asp1334=)
c.4097A= (p.Asp1366=)
c.3947A= (p.Asp1316=)
5g.128333035C>ACA360755558FBN2n.884-1G>T
n.965-1G>T
c.4100-1G>T (n.4100-1G>T)
c.650-1G>T (n.650-1G>T)
c.4001-1G>T (n.4001-1G>T)
c.4097-1G>T (n.4097-1G>T)
c.3947-1G>T (n.3947-1G>T)
5g.128333035C>GCA360755562FBN2n.884-1G>C
n.965-1G>C
c.4100-1G>C (n.4100-1G>C)
c.650-1G>C (n.650-1G>C)
c.4001-1G>C (n.4001-1G>C)
c.4097-1G>C (n.4097-1G>C)
c.3947-1G>C (n.3947-1G>C)
5g.128333035C>TCA360755567FBN2n.884-1G>A
n.965-1G>A
c.4100-1G>A (n.4100-1G>A)
c.650-1G>A (n.650-1G>A)
c.4001-1G>A (n.4001-1G>A)
c.4097-1G>A (n.4097-1G>A)
c.3947-1G>A (n.3947-1G>A)
5g.128333036T>ACA360755578FBN2n.884-2A>T
n.965-2A>T
c.4100-2A>T (n.4100-2A>T)
c.650-2A>T (n.650-2A>T)
c.4001-2A>T (n.4001-2A>T)
c.4097-2A>T (n.4097-2A>T)
c.3947-2A>T (n.3947-2A>T)
5g.128333036T>CCA360755592FBN2n.884-2A>G
n.965-2A>G
c.4100-2A>G (n.4100-2A>G)
c.650-2A>G (n.650-2A>G)
c.4001-2A>G (n.4001-2A>G)
c.4097-2A>G (n.4097-2A>G)
c.3947-2A>G (n.3947-2A>G)
5g.128333036T>GCA360755595FBN2n.884-2A>C
n.965-2A>C
c.4100-2A>C (n.4100-2A>C)
c.650-2A>C (n.650-2A>C)
c.4001-2A>C (n.4001-2A>C)
c.4097-2A>C (n.4097-2A>C)
c.3947-2A>C (n.3947-2A>C)
ClinVar dbSNP
5g.128333036T=CA1581268420FBN2n.884-2A=
n.965-2A=
c.4100-2A= (n.4100-2A=)
c.650-2A= (n.650-2A=)
c.4001-2A= (n.4001-2A=)
c.4097-2A= (n.4097-2A=)
c.3947-2A= (n.3947-2A=)
5g.128333038A=CA1581268421FBN2n.884-4T=
n.965-4T=
c.4100-4T= (n.4100-4T=)
c.650-4T= (n.650-4T=)
c.4001-4T= (n.4001-4T=)
c.4097-4T= (n.4097-4T=)
c.3947-4T= (n.3947-4T=)
5g.128333038A>GCA562714846FBN2n.884-4T>C
n.965-4T>C
c.4100-4T>C (n.4100-4T>C)
c.650-4T>C (n.650-4T>C)
c.4001-4T>C (n.4001-4T>C)
c.4097-4T>C (n.4097-4T>C)
c.3947-4T>C (n.3947-4T>C)
dbSNP gnomAD v2 gnomAD v4
5g.128333039T>CCA2578396269FBN2n.884-5A>G
n.965-5A>G
c.4100-5A>G (n.4100-5A>G)
c.650-5A>G (n.650-5A>G)
c.4001-5A>G (n.4001-5A>G)
c.4097-5A>G (n.4097-5A>G)
c.3947-5A>G (n.3947-5A>G)
5g.128333039T>GCA2501584408FBN2n.884-5A>C
n.965-5A>C
c.4100-5A>C (n.4100-5A>C)
c.650-5A>C (n.650-5A>C)
c.4001-5A>C (n.4001-5A>C)
c.4097-5A>C (n.4097-5A>C)
c.3947-5A>C (n.3947-5A>C)
5g.128333040A=CA1581268422FBN2n.884-6T=
n.965-6T=
c.4100-6T= (n.4100-6T=)
c.650-6T= (n.650-6T=)
c.4001-6T= (n.4001-6T=)
c.4097-6T= (n.4097-6T=)
c.3947-6T= (n.3947-6T=)
5g.128333040A>GCA1081363870FBN2n.884-6T>C
n.965-6T>C
c.4100-6T>C (n.4100-6T>C)
c.650-6T>C (n.650-6T>C)
c.4001-6T>C (n.4001-6T>C)
c.4097-6T>C (n.4097-6T>C)
c.3947-6T>C (n.3947-6T>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128333042A>GCA2675116769FBN2n.884-8T>C
n.965-8T>C
c.4100-8T>C (n.4100-8T>C)
c.650-8T>C (n.650-8T>C)
c.4001-8T>C (n.4001-8T>C)
c.4097-8T>C (n.4097-8T>C)
c.3947-8T>C (n.3947-8T>C)
ClinVar gnomAD v4
5g.128333043C>ACA244153FBN2n.884-9G>T
n.965-9G>T
c.4100-9G>T (n.4100-9G>T)
c.650-9G>T (n.650-9G>T)
c.4001-9G>T (n.4001-9G>T)
c.4097-9G>T (n.4097-9G>T)
c.3947-9G>T (n.3947-9G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128333043C=CA1581268423FBN2n.884-9G=
n.965-9G=
c.4100-9G= (n.4100-9G=)
c.650-9G= (n.650-9G=)
c.4001-9G= (n.4001-9G=)
c.4097-9G= (n.4097-9G=)
c.3947-9G= (n.3947-9G=)
5g.128333044C>ACA2578396270FBN2n.884-10G>T
n.965-10G>T
c.4100-10G>T (n.4100-10G>T)
c.650-10G>T (n.650-10G>T)
c.4001-10G>T (n.4001-10G>T)
c.4097-10G>T (n.4097-10G>T)
c.3947-10G>T (n.3947-10G>T)
gnomAD v4
5g.128333045A=CA1581268424FBN2n.884-11T=
n.965-11T=
c.4100-11T= (n.4100-11T=)
c.650-11T= (n.650-11T=)
c.4001-11T= (n.4001-11T=)
c.4097-11T= (n.4097-11T=)
c.3947-11T= (n.3947-11T=)
5g.128333045A>GCA1081363877FBN2n.884-11T>C
n.965-11T>C
c.4100-11T>C (n.4100-11T>C)
c.650-11T>C (n.650-11T>C)
c.4001-11T>C (n.4001-11T>C)
c.4097-11T>C (n.4097-11T>C)
c.3947-11T>C (n.3947-11T>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128333046T>CCA2578396271FBN2n.884-12A>G
n.965-12A>G
c.4100-12A>G (n.4100-12A>G)
c.650-12A>G (n.650-12A>G)
c.4001-12A>G (n.4001-12A>G)
c.4097-12A>G (n.4097-12A>G)
c.3947-12A>G (n.3947-12A>G)
gnomAD v4
5g.128333048A>GCA2675116770FBN2n.884-14T>C
n.965-14T>C
c.4100-14T>C (n.4100-14T>C)
c.650-14T>C (n.650-14T>C)
c.4001-14T>C (n.4001-14T>C)
c.4097-14T>C (n.4097-14T>C)
c.3947-14T>C (n.3947-14T>C)
gnomAD v4
5g.128333050T>ACA2768335729FBN2n.884-16A>T
n.965-16A>T
c.4100-16A>T (n.4100-16A>T)
c.650-16A>T (n.650-16A>T)
c.4001-16A>T (n.4001-16A>T)
c.4097-16A>T (n.4097-16A>T)
c.3947-16A>T (n.3947-16A>T)
5g.128333051C>ACA2561567355FBN2n.884-17G>T
n.965-17G>T
c.4100-17G>T (n.4100-17G>T)
c.650-17G>T (n.650-17G>T)
c.4001-17G>T (n.4001-17G>T)
c.4097-17G>T (n.4097-17G>T)
c.3947-17G>T (n.3947-17G>T)
gnomAD v4
5g.128333052A>GCA2768335730FBN2n.884-18T>C
n.965-18T>C
c.4100-18T>C (n.4100-18T>C)
c.650-18T>C (n.650-18T>C)
c.4001-18T>C (n.4001-18T>C)
c.4097-18T>C (n.4097-18T>C)
c.3947-18T>C (n.3947-18T>C)
5g.128333053T>ACA3395052FBN2n.884-19A>T
n.965-19A>T
c.4100-19A>T (n.4100-19A>T)
c.650-19A>T (n.650-19A>T)
c.4001-19A>T (n.4001-19A>T)
c.4097-19A>T (n.4097-19A>T)
c.3947-19A>T (n.3947-19A>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128333053T>CCA127007025FBN2n.884-19A>G
n.965-19A>G
c.4100-19A>G (n.4100-19A>G)
c.650-19A>G (n.650-19A>G)
c.4001-19A>G (n.4001-19A>G)
c.4097-19A>G (n.4097-19A>G)
c.3947-19A>G (n.3947-19A>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128333053T=CA1581268425FBN2n.884-19A=
n.965-19A=
c.4100-19A= (n.4100-19A=)
c.650-19A= (n.650-19A=)
c.4001-19A= (n.4001-19A=)
c.4097-19A= (n.4097-19A=)
c.3947-19A= (n.3947-19A=)
5g.128333054A=CA1581268426FBN2n.884-20T=
n.965-20T=
c.4100-20T= (n.4100-20T=)
c.650-20T= (n.650-20T=)
c.4001-20T= (n.4001-20T=)
c.4097-20T= (n.4097-20T=)
c.3947-20T= (n.3947-20T=)
5g.128333054A>GCA3395053FBN2n.884-20T>C
n.965-20T>C
c.4100-20T>C (n.4100-20T>C)
c.650-20T>C (n.650-20T>C)
c.4001-20T>C (n.4001-20T>C)
c.4097-20T>C (n.4097-20T>C)
c.3947-20T>C (n.3947-20T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.128333054A>TCA2675116771FBN2n.884-20T>A
n.965-20T>A
c.4100-20T>A (n.4100-20T>A)
c.650-20T>A (n.650-20T>A)
c.4001-20T>A (n.4001-20T>A)
c.4097-20T>A (n.4097-20T>A)
c.3947-20T>A (n.3947-20T>A)
gnomAD v4
5g.128333059_128333061delCA2578396272FBN2n.884-22_884-20del
n.965-22_965-20del
c.4100-22_4100-20del (n.4100-22_4100-20del)
c.650-22_650-20del (n.650-22_650-20del)
c.4001-22_4001-20del (n.4001-22_4001-20del)
c.4097-22_4097-20del (n.4097-22_4097-20del)
c.3947-22_3947-20del (n.3947-22_3947-20del)
5g.128333055A=CA1581268427FBN2n.884-21T=
n.965-21T=
c.4100-21T= (n.4100-21T=)
c.650-21T= (n.650-21T=)
c.4001-21T= (n.4001-21T=)
c.4097-21T= (n.4097-21T=)
c.3947-21T= (n.3947-21T=)
5g.128333055A>GCA3395054FBN2n.884-21T>C
n.965-21T>C
c.4100-21T>C (n.4100-21T>C)
c.650-21T>C (n.650-21T>C)
c.4001-21T>C (n.4001-21T>C)
c.4097-21T>C (n.4097-21T>C)
c.3947-21T>C (n.3947-21T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128333056G>ACA562714848FBN2n.884-22C>T
n.965-22C>T
c.4100-22C>T (n.4100-22C>T)
c.650-22C>T (n.650-22C>T)
c.4001-22C>T (n.4001-22C>T)
c.4097-22C>T (n.4097-22C>T)
c.3947-22C>T (n.3947-22C>T)
dbSNP gnomAD v2 gnomAD v4
5g.128333056G>CCA2768335731FBN2n.884-22C>G
n.965-22C>G
c.4100-22C>G (n.4100-22C>G)
c.650-22C>G (n.650-22C>G)
c.4001-22C>G (n.4001-22C>G)
c.4097-22C>G (n.4097-22C>G)
c.3947-22C>G (n.3947-22C>G)
5g.128333056G=CA1581268428FBN2n.884-22C=
n.965-22C=
c.4100-22C= (n.4100-22C=)
c.650-22C= (n.650-22C=)
c.4001-22C= (n.4001-22C=)
c.4097-22C= (n.4097-22C=)
c.3947-22C= (n.3947-22C=)

Number of alleles fetched