Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128393177C>ACA360749031FBN2n.1130G>T
c.1423G>T (p.Gly475Cys)
c.1324G>T (p.Gly442Cys)
c.1420G>T (p.Gly474Cys)
c.1270G>T (p.Gly424Cys)
 dbSNP
5g.128393177C=CA1581293615FBN2n.1130G=
c.1423G= (p.Gly475=)
c.1324G= (p.Gly442=)
c.1420G= (p.Gly474=)
c.1270G= (p.Gly424=)
5g.128393177C>GCA320612FBN2n.1130G>C
c.1423G>C (p.Gly475Arg)
c.1324G>C (p.Gly442Arg)
c.1420G>C (p.Gly474Arg)
c.1270G>C (p.Gly424Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128393177C>TCA3395804FBN2n.1130G>A
c.1423G>A (p.Gly475Ser)
c.1324G>A (p.Gly442Ser)
c.1420G>A (p.Gly474Ser)
c.1270G>A (p.Gly424Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128393178G>ACA3395805FBN2n.1129C>T
c.1422C>T (p.Ala474=)
c.1323C>T (p.Ala441=)
c.1419C>T (p.Ala473=)
c.1269C>T (p.Ala423=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128393178G>CCA446305758FBN2n.1129C>G
c.1422C>G (p.Ala474=)
c.1323C>G (p.Ala441=)
c.1419C>G (p.Ala473=)
c.1269C>G (p.Ala423=)
5g.128393178G=CA1581293622FBN2n.1129C=
c.1422C= (p.Ala474=)
c.1323C= (p.Ala441=)
c.1419C= (p.Ala473=)
c.1269C= (p.Ala423=)
5g.128393178G>TCA446305759FBN2n.1129C>A
c.1422C>A (p.Ala474=)
c.1323C>A (p.Ala441=)
c.1419C>A (p.Ala473=)
c.1269C>A (p.Ala423=)
5g.128393179G>ACA360749040FBN2n.1128C>T
c.1421C>T (p.Ala474Val)
c.1322C>T (p.Ala441Val)
c.1418C>T (p.Ala473Val)
c.1268C>T (p.Ala423Val)
 dbSNP
5g.128393179G>CCA360749042FBN2n.1128C>G
c.1421C>G (p.Ala474Gly)
c.1322C>G (p.Ala441Gly)
c.1418C>G (p.Ala473Gly)
c.1268C>G (p.Ala423Gly)
 ClinVar
5g.128393179G=CA1581293625FBN2n.1128C=
c.1421C= (p.Ala474=)
c.1322C= (p.Ala441=)
c.1418C= (p.Ala473=)
c.1268C= (p.Ala423=)
5g.128393179G>TCA360749044FBN2n.1128C>A
c.1421C>A (p.Ala474Asp)
c.1322C>A (p.Ala441Asp)
c.1418C>A (p.Ala473Asp)
c.1268C>A (p.Ala423Asp)
5g.128393180C>ACA360749047FBN2n.1127G>T
c.1420G>T (p.Ala474Ser)
c.1321G>T (p.Ala441Ser)
c.1417G>T (p.Ala473Ser)
c.1267G>T (p.Ala423Ser)
5g.128393180C>GCA360749049FBN2n.1127G>C
c.1420G>C (p.Ala474Pro)
c.1321G>C (p.Ala441Pro)
c.1417G>C (p.Ala473Pro)
c.1267G>C (p.Ala423Pro)
5g.128393180C>TCA360749052FBN2n.1127G>A
c.1420G>A (p.Ala474Thr)
c.1321G>A (p.Ala441Thr)
c.1417G>A (p.Ala473Thr)
c.1267G>A (p.Ala423Thr)
 gnomAD v4
5g.128393181T>ACA446305760FBN2n.1126A>T
c.1419A>T (p.Gly473=)
c.1320A>T (p.Gly440=)
c.1416A>T (p.Gly472=)
c.1266A>T (p.Gly422=)
5g.128393181T>CCA446305761FBN2n.1126A>G
c.1419A>G (p.Gly473=)
c.1320A>G (p.Gly440=)
c.1416A>G (p.Gly472=)
c.1266A>G (p.Gly422=)
5g.128393181T>GCA446305762FBN2n.1126A>C
c.1419A>C (p.Gly473=)
c.1320A>C (p.Gly440=)
c.1416A>C (p.Gly472=)
c.1266A>C (p.Gly422=)
5g.128393182C>ACA360749055FBN2n.1125G>T
c.1418G>T (p.Gly473Val)
c.1319G>T (p.Gly440Val)
c.1415G>T (p.Gly472Val)
c.1265G>T (p.Gly422Val)
 COSMIC COSMIC
5g.128393182C=CA1581293628FBN2n.1125G=
c.1418G= (p.Gly473=)
c.1319G= (p.Gly440=)
c.1415G= (p.Gly472=)
c.1265G= (p.Gly422=)
5g.128393182C>GCA360749057FBN2n.1125G>C
c.1418G>C (p.Gly473Ala)
c.1319G>C (p.Gly440Ala)
c.1415G>C (p.Gly472Ala)
c.1265G>C (p.Gly422Ala)
5g.128393182C>TCA3395806FBN2n.1125G>A
c.1418G>A (p.Gly473Glu)
c.1319G>A (p.Gly440Glu)
c.1415G>A (p.Gly472Glu)
c.1265G>A (p.Gly422Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128393186delCA2709958039FBN2n.1125del
c.1418del (p.Gly473GlufsTer16)
c.1319del (p.Gly440GlufsTer16)
c.1415del (p.Gly472GlufsTer16)
c.1265del (p.Gly422GlufsTer16)
 dbSNP
5g.128393183C>ACA360749061FBN2n.1124G>T
c.1417G>T (p.Gly473Ter)
c.1318G>T (p.Gly440Ter)
c.1414G>T (p.Gly472Ter)
c.1264G>T (p.Gly422Ter)
5g.128393183C>GCA360749066FBN2n.1124G>C
c.1417G>C (p.Gly473Arg)
c.1318G>C (p.Gly440Arg)
c.1414G>C (p.Gly472Arg)
c.1264G>C (p.Gly422Arg)
5g.128393183C>TCA360749063FBN2n.1124G>A
c.1417G>A (p.Gly473Arg)
c.1318G>A (p.Gly440Arg)
c.1414G>A (p.Gly472Arg)
c.1264G>A (p.Gly422Arg)
5g.128393184C>ACA446305765FBN2n.1123G>T
c.1416G>T (p.Gly472=)
c.1317G>T (p.Gly439=)
c.1413G>T (p.Gly471=)
c.1263G>T (p.Gly421=)
5g.128393184C=CA1581293633FBN2n.1123G=
c.1416G= (p.Gly472=)
c.1317G= (p.Gly439=)
c.1413G= (p.Gly471=)
c.1263G= (p.Gly421=)
5g.128393184C>GCA446305764FBN2n.1123G>C
c.1416G>C (p.Gly472=)
c.1317G>C (p.Gly439=)
c.1413G>C (p.Gly471=)
c.1263G>C (p.Gly421=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128393184C>TCA446305763FBN2n.1123G>A
c.1416G>A (p.Gly472=)
c.1317G>A (p.Gly439=)
c.1413G>A (p.Gly471=)
c.1263G>A (p.Gly421=)
5g.128393185C>ACA360749067FBN2n.1122G>T
c.1415G>T (p.Gly472Val)
c.1316G>T (p.Gly439Val)
c.1412G>T (p.Gly471Val)
c.1262G>T (p.Gly421Val)
5g.128393185C=CA1581293637FBN2n.1122G=
c.1415G= (p.Gly472=)
c.1316G= (p.Gly439=)
c.1412G= (p.Gly471=)
c.1262G= (p.Gly421=)
5g.128393185C>GCA360749069FBN2n.1122G>C
c.1415G>C (p.Gly472Ala)
c.1316G>C (p.Gly439Ala)
c.1412G>C (p.Gly471Ala)
c.1262G>C (p.Gly421Ala)
 dbSNP gnomAD v3 gnomAD v4
5g.128393185C>TCA360749071FBN2n.1122G>A
c.1415G>A (p.Gly472Glu)
c.1316G>A (p.Gly439Glu)
c.1412G>A (p.Gly471Glu)
c.1262G>A (p.Gly421Glu)
5g.128393186C>ACA360749075FBN2n.1121G>T
c.1414G>T (p.Gly472Trp)
c.1315G>T (p.Gly439Trp)
c.1411G>T (p.Gly471Trp)
c.1261G>T (p.Gly421Trp)
 gnomAD v4
5g.128393186C>GCA360749076FBN2n.1121G>C
c.1414G>C (p.Gly472Arg)
c.1315G>C (p.Gly439Arg)
c.1411G>C (p.Gly471Arg)
c.1261G>C (p.Gly421Arg)
5g.128393186C>TCA360749078FBN2n.1121G>A
c.1414G>A (p.Gly472Arg)
c.1315G>A (p.Gly439Arg)
c.1411G>A (p.Gly471Arg)
c.1261G>A (p.Gly421Arg)
5g.128393187A>CCA446305766FBN2n.1120T>G
c.1413T>G (p.Val471=)
c.1314T>G (p.Val438=)
c.1410T>G (p.Val470=)
c.1260T>G (p.Val420=)
 dbSNP
5g.128393187A>GCA446305767FBN2n.1120T>C
c.1413T>C (p.Val471=)
c.1314T>C (p.Val438=)
c.1410T>C (p.Val470=)
c.1260T>C (p.Val420=)
5g.128393187A>TCA446305768FBN2n.1120T>A
c.1413T>A (p.Val471=)
c.1314T>A (p.Val438=)
c.1410T>A (p.Val470=)
c.1260T>A (p.Val420=)
5g.128393188A=CA1581293642FBN2n.1119T=
c.1412T= (p.Val471=)
c.1313T= (p.Val438=)
c.1409T= (p.Val470=)
c.1259T= (p.Val420=)
5g.128393188A>CCA127033735FBN2n.1119T>G
c.1412T>G (p.Val471Gly)
c.1313T>G (p.Val438Gly)
c.1409T>G (p.Val470Gly)
c.1259T>G (p.Val420Gly)
 dbSNP gnomAD v4
5g.128393188A>GCA360749082FBN2n.1119T>C
c.1412T>C (p.Val471Ala)
c.1313T>C (p.Val438Ala)
c.1409T>C (p.Val470Ala)
c.1259T>C (p.Val420Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128393188A>TCA360749083FBN2n.1119T>A
c.1412T>A (p.Val471Asp)
c.1313T>A (p.Val438Asp)
c.1409T>A (p.Val470Asp)
c.1259T>A (p.Val420Asp)
5g.128393189C>ACA360749090FBN2n.1118G>T
c.1411G>T (p.Val471Phe)
c.1312G>T (p.Val438Phe)
c.1408G>T (p.Val470Phe)
c.1258G>T (p.Val420Phe)
 ClinVar dbSNP gnomAD v4
5g.128393189C=CA1581293651FBN2n.1118G=
c.1411G= (p.Val471=)
c.1312G= (p.Val438=)
c.1408G= (p.Val470=)
c.1258G= (p.Val420=)
5g.128393189C>GCA3395808FBN2n.1118G>C
c.1411G>C (p.Val471Leu)
c.1312G>C (p.Val438Leu)
c.1408G>C (p.Val470Leu)
c.1258G>C (p.Val420Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.128393189C>TCA3395807FBN2n.1118G>A
c.1411G>A (p.Val471Ile)
c.1312G>A (p.Val438Ile)
c.1408G>A (p.Val470Ile)
c.1258G>A (p.Val420Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128393190G>ACA3395809FBN2n.1117C>T
c.1410C>T (p.Gly470=)
c.1311C>T (p.Gly437=)
c.1407C>T (p.Gly469=)
c.1257C>T (p.Gly419=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128393190G>CCA446305769FBN2n.1117C>G
c.1410C>G (p.Gly470=)
c.1311C>G (p.Gly437=)
c.1407C>G (p.Gly469=)
c.1257C>G (p.Gly419=)
5g.128393190G=CA1581293655FBN2n.1117C=
c.1410C= (p.Gly470=)
c.1311C= (p.Gly437=)
c.1407C= (p.Gly469=)
c.1257C= (p.Gly419=)
5g.128393190G>TCA10586899FBN2n.1117C>A
c.1410C>A (p.Gly470=)
c.1311C>A (p.Gly437=)
c.1407C>A (p.Gly469=)
c.1257C>A (p.Gly419=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128393191C>ACA360749097FBN2n.1116G>T
c.1409G>T (p.Gly470Val)
c.1310G>T (p.Gly437Val)
c.1406G>T (p.Gly469Val)
c.1256G>T (p.Gly419Val)
5g.128393191C>GCA360749100FBN2n.1116G>C
c.1409G>C (p.Gly470Ala)
c.1310G>C (p.Gly437Ala)
c.1406G>C (p.Gly469Ala)
c.1256G>C (p.Gly419Ala)
5g.128393191C>TCA360749102FBN2n.1116G>A
c.1409G>A (p.Gly470Asp)
c.1310G>A (p.Gly437Asp)
c.1406G>A (p.Gly469Asp)
c.1256G>A (p.Gly419Asp)
 gnomAD v4
5g.128393191_128393192insACCCAACACA2768337297FBN2n.1115_1116insTGTTGGGT
c.1408_1409insTGTTGGGT (p.Gly470ValfsTer22)
c.1309_1310insTGTTGGGT (p.Gly437ValfsTer22)
c.1405_1406insTGTTGGGT (p.Gly469ValfsTer22)
c.1255_1256insTGTTGGGT (p.Gly419ValfsTer22)
5g.128393192C>ACA360749105FBN2n.1115G>T
c.1408G>T (p.Gly470Cys)
c.1309G>T (p.Gly437Cys)
c.1405G>T (p.Gly469Cys)
c.1255G>T (p.Gly419Cys)
5g.128393192C=CA1581293665FBN2n.1115G=
c.1408G= (p.Gly470=)
c.1309G= (p.Gly437=)
c.1405G= (p.Gly469=)
c.1255G= (p.Gly419=)
5g.128393192C>GCA360749107FBN2n.1115G>C
c.1408G>C (p.Gly470Arg)
c.1309G>C (p.Gly437Arg)
c.1405G>C (p.Gly469Arg)
c.1255G>C (p.Gly419Arg)
5g.128393192C>TCA360749110FBN2n.1115G>A
c.1408G>A (p.Gly470Ser)
c.1309G>A (p.Gly437Ser)
c.1405G>A (p.Gly469Ser)
c.1255G>A (p.Gly419Ser)
 dbSNP gnomAD v3 gnomAD v4
5g.128393193_128393194insAACACACCCAACACACA2768337298FBN2n.1115_1116insTGTTGGGTGTGTTTG
c.1408_1409insTGTTGGGTGTGTTTG (p.Pro469_Gly470insValLeuGlyValPhe)
c.1309_1310insTGTTGGGTGTGTTTG (p.Pro436_Gly437insValLeuGlyValPhe)
c.1405_1406insTGTTGGGTGTGTTTG (p.Pro468_Gly469insValLeuGlyValPhe)
c.1255_1256insTGTTGGGTGTGTTTG (p.Pro418_Gly419insValLeuGlyValPhe)
5g.128393193A=CA1581293668FBN2n.1114T=
c.1407T= (p.Pro469=)
c.1308T= (p.Pro436=)
c.1404T= (p.Pro468=)
c.1254T= (p.Pro418=)
5g.128393193A>CCA446305771FBN2n.1114T>G
c.1407T>G (p.Pro469=)
c.1308T>G (p.Pro436=)
c.1404T>G (p.Pro468=)
c.1254T>G (p.Pro418=)
 dbSNP gnomAD v3 gnomAD v4
5g.128393193A>GCA446305772FBN2n.1114T>C
c.1407T>C (p.Pro469=)
c.1308T>C (p.Pro436=)
c.1404T>C (p.Pro468=)
c.1254T>C (p.Pro418=)
5g.128393193A>TCA446305773FBN2n.1114T>A
c.1407T>A (p.Pro469=)
c.1308T>A (p.Pro436=)
c.1404T>A (p.Pro468=)
c.1254T>A (p.Pro418=)
5g.128393194G>ACA127033741FBN2n.1113C>T
c.1406C>T (p.Pro469Leu)
c.1307C>T (p.Pro436Leu)
c.1403C>T (p.Pro468Leu)
c.1253C>T (p.Pro418Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128393194G>CCA360749114FBN2n.1113C>G
c.1406C>G (p.Pro469Arg)
c.1307C>G (p.Pro436Arg)
c.1403C>G (p.Pro468Arg)
c.1253C>G (p.Pro418Arg)
5g.128393194G=CA1581293671FBN2n.1113C=
c.1406C= (p.Pro469=)
c.1307C= (p.Pro436=)
c.1403C= (p.Pro468=)
c.1253C= (p.Pro418=)
5g.128393194G>TCA360749116FBN2n.1113C>A
c.1406C>A (p.Pro469His)
c.1307C>A (p.Pro436His)
c.1403C>A (p.Pro468His)
c.1253C>A (p.Pro418His)
5g.128393195G>ACA360749118FBN2n.1112C>T
c.1405C>T (p.Pro469Ser)
c.1306C>T (p.Pro436Ser)
c.1402C>T (p.Pro468Ser)
c.1252C>T (p.Pro418Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.128393195G>CCA360749120FBN2n.1112C>G
c.1405C>G (p.Pro469Ala)
c.1306C>G (p.Pro436Ala)
c.1402C>G (p.Pro468Ala)
c.1252C>G (p.Pro418Ala)
5g.128393195G=CA1581293673FBN2n.1112C=
c.1405C= (p.Pro469=)
c.1306C= (p.Pro436=)
c.1402C= (p.Pro468=)
c.1252C= (p.Pro418=)
5g.128393195G>TCA360749121FBN2n.1112C>A
c.1405C>A (p.Pro469Thr)
c.1306C>A (p.Pro436Thr)
c.1402C>A (p.Pro468Thr)
c.1252C>A (p.Pro418Thr)
5g.128393196A=CA1581293676FBN2n.1111T=
c.1404T= (p.Ser468=)
c.1305T= (p.Ser435=)
c.1401T= (p.Ser467=)
c.1251T= (p.Ser417=)
5g.128393196A>CCA446305775FBN2n.1111T>G
c.1404T>G (p.Ser468=)
c.1305T>G (p.Ser435=)
c.1401T>G (p.Ser467=)
c.1251T>G (p.Ser417=)
5g.128393196A>GCA127033746FBN2n.1111T>C
c.1404T>C (p.Ser468=)
c.1305T>C (p.Ser435=)
c.1401T>C (p.Ser467=)
c.1251T>C (p.Ser417=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128393196A>TCA446305774FBN2n.1111T>A
c.1404T>A (p.Ser468=)
c.1305T>A (p.Ser435=)
c.1401T>A (p.Ser467=)
c.1251T>A (p.Ser417=)
5g.128393197G>ACA3395810FBN2n.1110C>T
c.1403C>T (p.Ser468Phe)
c.1304C>T (p.Ser435Phe)
c.1400C>T (p.Ser467Phe)
c.1250C>T (p.Ser417Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128393197G>CCA360749123FBN2n.1110C>G
c.1403C>G (p.Ser468Cys)
c.1304C>G (p.Ser435Cys)
c.1400C>G (p.Ser467Cys)
c.1250C>G (p.Ser417Cys)
5g.128393197G=CA1581293679FBN2n.1110C=
c.1403C= (p.Ser468=)
c.1304C= (p.Ser435=)
c.1400C= (p.Ser467=)
c.1250C= (p.Ser417=)
5g.128393197G>TCA360749125FBN2n.1110C>A
c.1403C>A (p.Ser468Tyr)
c.1304C>A (p.Ser435Tyr)
c.1400C>A (p.Ser467Tyr)
c.1250C>A (p.Ser417Tyr)
5g.128393198A>CCA360749128FBN2n.1109T>G
c.1402T>G (p.Ser468Ala)
c.1303T>G (p.Ser435Ala)
c.1399T>G (p.Ser467Ala)
c.1249T>G (p.Ser417Ala)
5g.128393198A>GCA360749130FBN2n.1109T>C
c.1402T>C (p.Ser468Pro)
c.1303T>C (p.Ser435Pro)
c.1399T>C (p.Ser467Pro)
c.1249T>C (p.Ser417Pro)
5g.128393198A>TCA360749133FBN2n.1109T>A
c.1402T>A (p.Ser468Thr)
c.1303T>A (p.Ser435Thr)
c.1399T>A (p.Ser467Thr)
c.1249T>A (p.Ser417Thr)
5g.128393199A>CCA360749135FBN2n.1108T>G
c.1401T>G (p.Phe467Leu)
c.1302T>G (p.Phe434Leu)
c.1398T>G (p.Phe466Leu)
c.1248T>G (p.Phe416Leu)
5g.128393199A>GCA446305776FBN2n.1108T>C
c.1401T>C (p.Phe467=)
c.1302T>C (p.Phe434=)
c.1398T>C (p.Phe466=)
c.1248T>C (p.Phe416=)
5g.128393199A>TCA360749138FBN2n.1108T>A
c.1401T>A (p.Phe467Leu)
c.1302T>A (p.Phe434Leu)
c.1398T>A (p.Phe466Leu)
c.1248T>A (p.Phe416Leu)
5g.128393200A=CA1581293682FBN2n.1107T=
c.1400T= (p.Phe467=)
c.1301T= (p.Phe434=)
c.1397T= (p.Phe466=)
c.1247T= (p.Phe416=)
5g.128393200A>CCA360749141FBN2n.1107T>G
c.1400T>G (p.Phe467Cys)
c.1301T>G (p.Phe434Cys)
c.1397T>G (p.Phe466Cys)
c.1247T>G (p.Phe416Cys)
5g.128393200A>GCA3395811FBN2n.1107T>C
c.1400T>C (p.Phe467Ser)
c.1301T>C (p.Phe434Ser)
c.1397T>C (p.Phe466Ser)
c.1247T>C (p.Phe416Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128393200A>TCA360749145FBN2n.1107T>A
c.1400T>A (p.Phe467Tyr)
c.1301T>A (p.Phe434Tyr)
c.1397T>A (p.Phe466Tyr)
c.1247T>A (p.Phe416Tyr)
5g.128393201A>CCA360749148FBN2n.1106T>G
c.1399T>G (p.Phe467Val)
c.1300T>G (p.Phe434Val)
c.1396T>G (p.Phe466Val)
c.1246T>G (p.Phe416Val)
5g.128393201A>GCA360749151FBN2n.1106T>C
c.1399T>C (p.Phe467Leu)
c.1300T>C (p.Phe434Leu)
c.1396T>C (p.Phe466Leu)
c.1246T>C (p.Phe416Leu)
5g.128393201A>TCA360749153FBN2n.1106T>A
c.1399T>A (p.Phe467Ile)
c.1300T>A (p.Phe434Ile)
c.1396T>A (p.Phe466Ile)
c.1246T>A (p.Phe416Ile)
5g.128393202G>ACA446305777FBN2n.1105C>T
c.1398C>T (p.Gly466=)
c.1299C>T (p.Gly433=)
c.1395C>T (p.Gly465=)
c.1245C>T (p.Gly415=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
5g.128393202G>CCA446305778FBN2n.1105C>G
c.1398C>G (p.Gly466=)
c.1299C>G (p.Gly433=)
c.1395C>G (p.Gly465=)
c.1245C>G (p.Gly415=)
5g.128393202G=CA1581293685FBN2n.1105C=
c.1398C= (p.Gly466=)
c.1299C= (p.Gly433=)
c.1395C= (p.Gly465=)
c.1245C= (p.Gly415=)
5g.128393202G>TCA446305779FBN2n.1105C>A
c.1398C>A (p.Gly466=)
c.1299C>A (p.Gly433=)
c.1395C>A (p.Gly465=)
c.1245C>A (p.Gly415=)
 COSMIC COSMIC
5g.128393203C>ACA360749160FBN2n.1104G>T
c.1397G>T (p.Gly466Val)
c.1298G>T (p.Gly433Val)
c.1394G>T (p.Gly465Val)
c.1244G>T (p.Gly415Val)
5g.128393203C=CA1581293688FBN2n.1104G=
c.1397G= (p.Gly466=)
c.1298G= (p.Gly433=)
c.1394G= (p.Gly465=)
c.1244G= (p.Gly415=)
5g.128393203C>GCA360749158FBN2n.1104G>C
c.1397G>C (p.Gly466Ala)
c.1298G>C (p.Gly433Ala)
c.1394G>C (p.Gly465Ala)
c.1244G>C (p.Gly415Ala)
5g.128393203C>TCA360749156FBN2n.1104G>A
c.1397G>A (p.Gly466Asp)
c.1298G>A (p.Gly433Asp)
c.1394G>A (p.Gly465Asp)
c.1244G>A (p.Gly415Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128393204C>ACA360749164FBN2n.1103G>T
c.1396G>T (p.Gly466Cys)
c.1297G>T (p.Gly433Cys)
c.1393G>T (p.Gly465Cys)
c.1243G>T (p.Gly415Cys)
5g.128393204C>GCA360749166FBN2n.1103G>C
c.1396G>C (p.Gly466Arg)
c.1297G>C (p.Gly433Arg)
c.1393G>C (p.Gly465Arg)
c.1243G>C (p.Gly415Arg)
5g.128393204C>TCA360749169FBN2n.1103G>A
c.1396G>A (p.Gly466Ser)
c.1297G>A (p.Gly433Ser)
c.1393G>A (p.Gly465Ser)
c.1243G>A (p.Gly415Ser)
 gnomAD v4 COSMIC COSMIC
5g.128393205A>CCA360749172FBN2n.1102T>G
c.1395T>G (p.Asn465Lys)
c.1296T>G (p.Asn432Lys)
c.1392T>G (p.Asn464Lys)
c.1242T>G (p.Asn414Lys)
5g.128393205A>GCA446305780FBN2n.1102T>C
c.1395T>C (p.Asn465=)
c.1296T>C (p.Asn432=)
c.1392T>C (p.Asn464=)
c.1242T>C (p.Asn414=)
 COSMIC COSMIC
5g.128393205A>TCA360749173FBN2n.1102T>A
c.1395T>A (p.Asn465Lys)
c.1296T>A (p.Asn432Lys)
c.1392T>A (p.Asn464Lys)
c.1242T>A (p.Asn414Lys)
5g.128393206T>ACA360749180FBN2n.1101A>T
c.1394A>T (p.Asn465Ile)
c.1295A>T (p.Asn432Ile)
c.1391A>T (p.Asn464Ile)
c.1241A>T (p.Asn414Ile)
5g.128393206T>CCA360749178FBN2n.1101A>G
c.1394A>G (p.Asn465Ser)
c.1295A>G (p.Asn432Ser)
c.1391A>G (p.Asn464Ser)
c.1241A>G (p.Asn414Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128393206T>GCA360749176FBN2n.1101A>C
c.1394A>C (p.Asn465Thr)
c.1295A>C (p.Asn432Thr)
c.1391A>C (p.Asn464Thr)
c.1241A>C (p.Asn414Thr)
 gnomAD v4 COSMIC COSMIC
5g.128393206T=CA1581293690FBN2n.1101A=
c.1394A= (p.Asn465=)
c.1295A= (p.Asn432=)
c.1391A= (p.Asn464=)
c.1241A= (p.Asn414=)
5g.128393207T>ACA360749184FBN2n.1100A>T
c.1393A>T (p.Asn465Tyr)
c.1294A>T (p.Asn432Tyr)
c.1390A>T (p.Asn464Tyr)
c.1240A>T (p.Asn414Tyr)
 gnomAD v4
5g.128393207T>CCA360749186FBN2n.1100A>G
c.1393A>G (p.Asn465Asp)
c.1294A>G (p.Asn432Asp)
c.1390A>G (p.Asn464Asp)
c.1240A>G (p.Asn414Asp)
 gnomAD v4
5g.128393207T>GCA360749188FBN2n.1100A>C
c.1393A>C (p.Asn465His)
c.1294A>C (p.Asn432His)
c.1390A>C (p.Asn464His)
c.1240A>C (p.Asn414His)
5g.128393208G>ACA446305781FBN2n.1099C>T
c.1392C>T (p.Gly464=)
c.1293C>T (p.Gly431=)
c.1389C>T (p.Gly463=)
c.1239C>T (p.Gly413=)
 gnomAD v4
5g.128393208G>CCA446305782FBN2n.1099C>G
c.1392C>G (p.Gly464=)
c.1293C>G (p.Gly431=)
c.1389C>G (p.Gly463=)
c.1239C>G (p.Gly413=)
5g.128393208G>TCA446305783FBN2n.1099C>A
c.1392C>A (p.Gly464=)
c.1293C>A (p.Gly431=)
c.1389C>A (p.Gly463=)
c.1239C>A (p.Gly413=)
 gnomAD v4
5g.128393209C>ACA360749190FBN2n.1098G>T
c.1391G>T (p.Gly464Val)
c.1292G>T (p.Gly431Val)
c.1388G>T (p.Gly463Val)
c.1238G>T (p.Gly413Val)
 dbSNP
5g.128393209C=CA1581293693FBN2n.1098G=
c.1391G= (p.Gly464=)
c.1292G= (p.Gly431=)
c.1388G= (p.Gly463=)
c.1238G= (p.Gly413=)
5g.128393209C>GCA360749191FBN2n.1098G>C
c.1391G>C (p.Gly464Ala)
c.1292G>C (p.Gly431Ala)
c.1388G>C (p.Gly463Ala)
c.1238G>C (p.Gly413Ala)
5g.128393209C>TCA3395812FBN2n.1098G>A
c.1391G>A (p.Gly464Asp)
c.1292G>A (p.Gly431Asp)
c.1388G>A (p.Gly463Asp)
c.1238G>A (p.Gly413Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128393210C>ACA360749192FBN2n.1097G>T
c.1390G>T (p.Gly464Cys)
c.1291G>T (p.Gly431Cys)
c.1387G>T (p.Gly463Cys)
c.1237G>T (p.Gly413Cys)
5g.128393210C>GCA360749194FBN2n.1097G>C
c.1390G>C (p.Gly464Arg)
c.1291G>C (p.Gly431Arg)
c.1387G>C (p.Gly463Arg)
c.1237G>C (p.Gly413Arg)
5g.128393210C>TCA360749193FBN2n.1097G>A
c.1390G>A (p.Gly464Ser)
c.1291G>A (p.Gly431Ser)
c.1387G>A (p.Gly463Ser)
c.1237G>A (p.Gly413Ser)
 gnomAD v4
5g.128393211T>ACA446305784FBN2n.1096A>T
c.1389A>T (p.Gly463=)
c.1290A>T (p.Gly430=)
c.1386A>T (p.Gly462=)
c.1236A>T (p.Gly412=)
5g.128393211T>CCA446305785FBN2n.1096A>G
c.1389A>G (p.Gly463=)
c.1290A>G (p.Gly430=)
c.1386A>G (p.Gly462=)
c.1236A>G (p.Gly412=)
5g.128393211T>GCA446305786FBN2n.1096A>C
c.1389A>C (p.Gly463=)
c.1290A>C (p.Gly430=)
c.1386A>C (p.Gly462=)
c.1236A>C (p.Gly412=)
5g.128393212C>ACA360749195FBN2n.1095G>T
c.1388G>T (p.Gly463Val)
c.1289G>T (p.Gly430Val)
c.1385G>T (p.Gly462Val)
c.1235G>T (p.Gly412Val)
5g.128393212C>GCA360749196FBN2n.1095G>C
c.1388G>C (p.Gly463Ala)
c.1289G>C (p.Gly430Ala)
c.1385G>C (p.Gly462Ala)
c.1235G>C (p.Gly412Ala)
5g.128393212C>TCA360749197FBN2n.1095G>A
c.1388G>A (p.Gly463Glu)
c.1289G>A (p.Gly430Glu)
c.1385G>A (p.Gly462Glu)
c.1235G>A (p.Gly412Glu)
5g.128393213C>ACA360749198FBN2n.1094G>T
c.1387G>T (p.Gly463Ter)
c.1288G>T (p.Gly430Ter)
c.1384G>T (p.Gly462Ter)
c.1234G>T (p.Gly412Ter)
5g.128393213C=CA1581293698FBN2n.1094G=
c.1387G= (p.Gly463=)
c.1288G= (p.Gly430=)
c.1384G= (p.Gly462=)
c.1234G= (p.Gly412=)
5g.128393213C>GCA360749199FBN2n.1094G>C
c.1387G>C (p.Gly463Arg)
c.1288G>C (p.Gly430Arg)
c.1384G>C (p.Gly462Arg)
c.1234G>C (p.Gly412Arg)
5g.128393213C>TCA3395813FBN2n.1094G>A
c.1387G>A (p.Gly463Arg)
c.1288G>A (p.Gly430Arg)
c.1384G>A (p.Gly462Arg)
c.1234G>A (p.Gly412Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128393214A=CA1581293707FBN2n.1093T=
c.1386T= (p.Pro462=)
c.1287T= (p.Pro429=)
c.1383T= (p.Pro461=)
c.1233T= (p.Pro411=)
5g.128393214A>CCA446305787FBN2n.1093T>G
c.1386T>G (p.Pro462=)
c.1287T>G (p.Pro429=)
c.1383T>G (p.Pro461=)
c.1233T>G (p.Pro411=)
 gnomAD v4
5g.128393214A>GCA3395814FBN2n.1093T>C
c.1386T>C (p.Pro462=)
c.1287T>C (p.Pro429=)
c.1383T>C (p.Pro461=)
c.1233T>C (p.Pro411=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.128393214A>TCA446305788FBN2n.1093T>A
c.1386T>A (p.Pro462=)
c.1287T>A (p.Pro429=)
c.1383T>A (p.Pro461=)
c.1233T>A (p.Pro411=)
5g.128393215G>ACA360749202FBN2n.1092C>T
c.1385C>T (p.Pro462Leu)
c.1286C>T (p.Pro429Leu)
c.1382C>T (p.Pro461Leu)
c.1232C>T (p.Pro411Leu)
 dbSNP gnomAD v3 gnomAD v4
5g.128393215G>CCA360749204FBN2n.1092C>G
c.1385C>G (p.Pro462Arg)
c.1286C>G (p.Pro429Arg)
c.1382C>G (p.Pro461Arg)
c.1232C>G (p.Pro411Arg)
 gnomAD v4
5g.128393215G=CA1581293709FBN2n.1092C=
c.1385C= (p.Pro462=)
c.1286C= (p.Pro429=)
c.1382C= (p.Pro461=)
c.1232C= (p.Pro411=)
5g.128393215G>TCA360749206FBN2n.1092C>A
c.1385C>A (p.Pro462His)
c.1286C>A (p.Pro429His)
c.1382C>A (p.Pro461His)
c.1232C>A (p.Pro411His)
5g.128393216G>ACA360749212FBN2n.1091C>T
c.1384C>T (p.Pro462Ser)
c.1285C>T (p.Pro429Ser)
c.1381C>T (p.Pro461Ser)
c.1231C>T (p.Pro411Ser)
5g.128393216G>CCA360749210FBN2n.1091C>G
c.1384C>G (p.Pro462Ala)
c.1285C>G (p.Pro429Ala)
c.1381C>G (p.Pro461Ala)
c.1231C>G (p.Pro411Ala)
5g.128393216G>TCA360749208FBN2n.1091C>A
c.1384C>A (p.Pro462Thr)
c.1285C>A (p.Pro429Thr)
c.1381C>A (p.Pro461Thr)
c.1231C>A (p.Pro411Thr)
5g.128393217G>ACA446305789FBN2n.1090C>T
c.1383C>T (p.Ile461=)
c.1284C>T (p.Ile428=)
c.1380C>T (p.Ile460=)
c.1230C>T (p.Ile410=)
 gnomAD v4
5g.128393217G>CCA360749214FBN2n.1090C>G
c.1383C>G (p.Ile461Met)
c.1284C>G (p.Ile428Met)
c.1380C>G (p.Ile460Met)
c.1230C>G (p.Ile410Met)
5g.128393217G=CA1581293711FBN2n.1090C=
c.1383C= (p.Ile461=)
c.1284C= (p.Ile428=)
c.1380C= (p.Ile460=)
c.1230C= (p.Ile410=)
5g.128393217G>TCA446305790FBN2n.1090C>A
c.1383C>A (p.Ile461=)
c.1284C>A (p.Ile428=)
c.1380C>A (p.Ile460=)
c.1230C>A (p.Ile410=)
 dbSNP gnomAD v3 gnomAD v4
5g.128393218A=CA1581293713FBN2n.1089T=
c.1382T= (p.Ile461=)
c.1283T= (p.Ile428=)
c.1379T= (p.Ile460=)
c.1229T= (p.Ile410=)
5g.128393218A>CCA360749221FBN2n.1089T>G
c.1382T>G (p.Ile461Ser)
c.1283T>G (p.Ile428Ser)
c.1379T>G (p.Ile460Ser)
c.1229T>G (p.Ile410Ser)
5g.128393218A>GCA360749216FBN2n.1089T>C
c.1382T>C (p.Ile461Thr)
c.1283T>C (p.Ile428Thr)
c.1379T>C (p.Ile460Thr)
c.1229T>C (p.Ile410Thr)
5g.128393218A>TCA360749219FBN2n.1089T>A
c.1382T>A (p.Ile461Asn)
c.1283T>A (p.Ile428Asn)
c.1379T>A (p.Ile460Asn)
c.1229T>A (p.Ile410Asn)
 ClinVar dbSNP gnomAD v4
5g.128393219T>ACA360749223FBN2n.1088A>T
c.1381A>T (p.Ile461Phe)
c.1282A>T (p.Ile428Phe)
c.1378A>T (p.Ile460Phe)
c.1228A>T (p.Ile410Phe)
5g.128393219T>CCA360749224FBN2n.1088A>G
c.1381A>G (p.Ile461Val)
c.1282A>G (p.Ile428Val)
c.1378A>G (p.Ile460Val)
c.1228A>G (p.Ile410Val)
5g.128393219T>GCA360749225FBN2n.1088A>C
c.1381A>C (p.Ile461Leu)
c.1282A>C (p.Ile428Leu)
c.1378A>C (p.Ile460Leu)
c.1228A>C (p.Ile410Leu)
5g.128393220G>ACA3395815FBN2n.1087C>T
c.1380C>T (p.Pro460=)
c.1281C>T (p.Pro427=)
c.1377C>T (p.Pro459=)
c.1227C>T (p.Pro409=)
 ClinVar dbSNP ExAC gnomAD v4
5g.128393220G>CCA446305791FBN2n.1087C>G
c.1380C>G (p.Pro460=)
c.1281C>G (p.Pro427=)
c.1377C>G (p.Pro459=)
c.1227C>G (p.Pro409=)
5g.128393220G=CA1581293716FBN2n.1087C=
c.1380C= (p.Pro460=)
c.1281C= (p.Pro427=)
c.1377C= (p.Pro459=)
c.1227C= (p.Pro409=)
5g.128393220G>TCA446305792FBN2n.1087C>A
c.1380C>A (p.Pro460=)
c.1281C>A (p.Pro427=)
c.1377C>A (p.Pro459=)
c.1227C>A (p.Pro409=)
5g.128393221G>ACA360749228FBN2n.1086C>T
c.1379C>T (p.Pro460Leu)
c.1280C>T (p.Pro427Leu)
c.1376C>T (p.Pro459Leu)
c.1226C>T (p.Pro409Leu)
 dbSNP
5g.128393221G>CCA360749230FBN2n.1086C>G
c.1379C>G (p.Pro460Arg)
c.1280C>G (p.Pro427Arg)
c.1376C>G (p.Pro459Arg)
c.1226C>G (p.Pro409Arg)
5g.128393221G=CA1581293720FBN2n.1086C=
c.1379C= (p.Pro460=)
c.1280C= (p.Pro427=)
c.1376C= (p.Pro459=)
c.1226C= (p.Pro409=)
5g.128393221G>TCA360749231FBN2n.1086C>A
c.1379C>A (p.Pro460His)
c.1280C>A (p.Pro427His)
c.1376C>A (p.Pro459His)
c.1226C>A (p.Pro409His)
5g.128393222G>ACA360749234FBN2n.1085C>T
c.1378C>T (p.Pro460Ser)
c.1279C>T (p.Pro427Ser)
c.1375C>T (p.Pro459Ser)
c.1225C>T (p.Pro409Ser)
 dbSNP gnomAD v2 COSMIC COSMIC
5g.128393222G>CCA360749235FBN2n.1085C>G
c.1378C>G (p.Pro460Ala)
c.1279C>G (p.Pro427Ala)
c.1375C>G (p.Pro459Ala)
c.1225C>G (p.Pro409Ala)
5g.128393222G=CA1581293723FBN2n.1085C=
c.1378C= (p.Pro460=)
c.1279C= (p.Pro427=)
c.1375C= (p.Pro459=)
c.1225C= (p.Pro409=)
5g.128393222G>TCA360749237FBN2n.1085C>A
c.1378C>A (p.Pro460Thr)
c.1279C>A (p.Pro427Thr)
c.1375C>A (p.Pro459Thr)
c.1225C>A (p.Pro409Thr)
5g.128393222_128393225delinsGGATCA1581293724FBN2n.1082_1085delinsATCC
c.1375_1378delinsATCC (p.Ile459=)
c.1276_1279delinsATCC (p.Ile426=)
c.1372_1375delinsATCC (p.Ile458=)
c.1222_1225delinsATCC (p.Ile408=)
5g.128393223G>ACA446305793FBN2n.1084C>T
c.1377C>T (p.Ile459=)
c.1278C>T (p.Ile426=)
c.1374C>T (p.Ile458=)
c.1224C>T (p.Ile408=)
 COSMIC COSMIC
5g.128393223G>CCA360749238FBN2n.1084C>G
c.1377C>G (p.Ile459Met)
c.1278C>G (p.Ile426Met)
c.1374C>G (p.Ile458Met)
c.1224C>G (p.Ile408Met)
5g.128393223G>TCA446305794FBN2n.1084C>A
c.1377C>A (p.Ile459=)
c.1278C>A (p.Ile426=)
c.1374C>A (p.Ile458=)
c.1224C>A (p.Ile408=)
5g.128393225_128393227delCA1581293726FBN2n.1082_1084del
c.1375_1377del (p.Ile459del)
c.1276_1278del (p.Ile426del)
c.1372_1374del (p.Ile458del)
c.1222_1224del (p.Ile408del)
 dbSNP
5g.128393224A>CCA360749241FBN2n.1083T>G
c.1376T>G (p.Ile459Ser)
c.1277T>G (p.Ile426Ser)
c.1373T>G (p.Ile458Ser)
c.1223T>G (p.Ile408Ser)
5g.128393224A>GCA360749244FBN2n.1083T>C
c.1376T>C (p.Ile459Thr)
c.1277T>C (p.Ile426Thr)
c.1373T>C (p.Ile458Thr)
c.1223T>C (p.Ile408Thr)
5g.128393224A>TCA360749242FBN2n.1083T>A
c.1376T>A (p.Ile459Asn)
c.1277T>A (p.Ile426Asn)
c.1373T>A (p.Ile458Asn)
c.1223T>A (p.Ile408Asn)
5g.128393225T>ACA360749245FBN2n.1082A>T
c.1375A>T (p.Ile459Phe)
c.1276A>T (p.Ile426Phe)
c.1372A>T (p.Ile458Phe)
c.1222A>T (p.Ile408Phe)
5g.128393225T>CCA360749246FBN2n.1082A>G
c.1375A>G (p.Ile459Val)
c.1276A>G (p.Ile426Val)
c.1372A>G (p.Ile458Val)
c.1222A>G (p.Ile408Val)
5g.128393225T>GCA360749248FBN2n.1082A>C
c.1375A>C (p.Ile459Leu)
c.1276A>C (p.Ile426Leu)
c.1372A>C (p.Ile458Leu)
c.1222A>C (p.Ile408Leu)
 gnomAD v4
5g.128393226G>ACA446305795FBN2n.1081C>T
c.1374C>T (p.Phe458=)
c.1275C>T (p.Phe425=)
c.1371C>T (p.Phe457=)
c.1221C>T (p.Phe407=)
 gnomAD v4
5g.128393226G>CCA360749250FBN2n.1081C>G
c.1374C>G (p.Phe458Leu)
c.1275C>G (p.Phe425Leu)
c.1371C>G (p.Phe457Leu)
c.1221C>G (p.Phe407Leu)
5g.128393226G>TCA360749252FBN2n.1081C>A
c.1374C>A (p.Phe458Leu)
c.1275C>A (p.Phe425Leu)
c.1371C>A (p.Phe457Leu)
c.1221C>A (p.Phe407Leu)
5g.128393227A>CCA360749254FBN2n.1080T>G
c.1373T>G (p.Phe458Cys)
c.1274T>G (p.Phe425Cys)
c.1370T>G (p.Phe457Cys)
c.1220T>G (p.Phe407Cys)
5g.128393227A>GCA360749256FBN2n.1080T>C
c.1373T>C (p.Phe458Ser)
c.1274T>C (p.Phe425Ser)
c.1370T>C (p.Phe457Ser)
c.1220T>C (p.Phe407Ser)
5g.128393227A>TCA360749257FBN2n.1080T>A
c.1373T>A (p.Phe458Tyr)
c.1274T>A (p.Phe425Tyr)
c.1370T>A (p.Phe457Tyr)
c.1220T>A (p.Phe407Tyr)
5g.128393228A>CCA360749258FBN2n.1079T>G
c.1372T>G (p.Phe458Val)
c.1273T>G (p.Phe425Val)
c.1369T>G (p.Phe457Val)
c.1219T>G (p.Phe407Val)
5g.128393228A>GCA360749260FBN2n.1079T>C
c.1372T>C (p.Phe458Leu)
c.1273T>C (p.Phe425Leu)
c.1369T>C (p.Phe457Leu)
c.1219T>C (p.Phe407Leu)
5g.128393228A>TCA360749261FBN2n.1079T>A
c.1372T>A (p.Phe458Ile)
c.1273T>A (p.Phe425Ile)
c.1369T>A (p.Phe457Ile)
c.1219T>A (p.Phe407Ile)
5g.128393229G>ACA446305796FBN2n.1078C>T
c.1371C>T (p.Gly457=)
c.1272C>T (p.Gly424=)
c.1368C>T (p.Gly456=)
c.1218C>T (p.Gly406=)
 gnomAD v4
5g.128393229G>CCA446305798FBN2n.1078C>G
c.1371C>G (p.Gly457=)
c.1272C>G (p.Gly424=)
c.1368C>G (p.Gly456=)
c.1218C>G (p.Gly406=)
5g.128393229G>TCA446305797FBN2n.1078C>A
c.1371C>A (p.Gly457=)
c.1272C>A (p.Gly424=)
c.1368C>A (p.Gly456=)
c.1218C>A (p.Gly406=)
5g.128393230C>ACA360749268FBN2n.1077G>T
c.1370G>T (p.Gly457Val)
c.1271G>T (p.Gly424Val)
c.1367G>T (p.Gly456Val)
c.1217G>T (p.Gly406Val)
5g.128393230C>GCA360749266FBN2n.1077G>C
c.1370G>C (p.Gly457Ala)
c.1271G>C (p.Gly424Ala)
c.1367G>C (p.Gly456Ala)
c.1217G>C (p.Gly406Ala)
5g.128393230C>TCA360749264FBN2n.1077G>A
c.1370G>A (p.Gly457Asp)
c.1271G>A (p.Gly424Asp)
c.1367G>A (p.Gly456Asp)
c.1217G>A (p.Gly406Asp)
 COSMIC COSMIC
5g.128393231C>ACA360749272FBN2n.1076G>T
c.1369G>T (p.Gly457Cys)
c.1270G>T (p.Gly424Cys)
c.1366G>T (p.Gly456Cys)
c.1216G>T (p.Gly406Cys)
5g.128393231C>GCA360749270FBN2n.1076G>C
c.1369G>C (p.Gly457Arg)
c.1270G>C (p.Gly424Arg)
c.1366G>C (p.Gly456Arg)
c.1216G>C (p.Gly406Arg)
5g.128393231C>TCA360749271FBN2n.1076G>A
c.1369G>A (p.Gly457Ser)
c.1270G>A (p.Gly424Ser)
c.1366G>A (p.Gly456Ser)
c.1216G>A (p.Gly406Ser)
5g.128393232T>ACA446305799FBN2n.1075A>T
c.1368A>T (p.Thr456=)
c.1269A>T (p.Thr423=)
c.1365A>T (p.Thr455=)
c.1215A>T (p.Thr405=)
 gnomAD v4
5g.128393232T>CCA446305800FBN2n.1075A>G
c.1368A>G (p.Thr456=)
c.1269A>G (p.Thr423=)
c.1365A>G (p.Thr455=)
c.1215A>G (p.Thr405=)
 dbSNP
5g.128393232T>GCA446305801FBN2n.1075A>C
c.1368A>C (p.Thr456=)
c.1269A>C (p.Thr423=)
c.1365A>C (p.Thr455=)
c.1215A>C (p.Thr405=)
 gnomAD v4
5g.128393232T=CA1581293728FBN2n.1075A=
c.1368A= (p.Thr456=)
c.1269A= (p.Thr423=)
c.1365A= (p.Thr455=)
c.1215A= (p.Thr405=)
5g.128393233G>ACA360749275FBN2n.1074C>T
c.1367C>T (p.Thr456Ile)
c.1268C>T (p.Thr423Ile)
c.1364C>T (p.Thr455Ile)
c.1214C>T (p.Thr405Ile)
5g.128393233G>CCA360749279FBN2n.1074C>G
c.1367C>G (p.Thr456Arg)
c.1268C>G (p.Thr423Arg)
c.1364C>G (p.Thr455Arg)
c.1214C>G (p.Thr405Arg)
5g.128393233G>TCA360749282FBN2n.1074C>A
c.1367C>A (p.Thr456Lys)
c.1268C>A (p.Thr423Lys)
c.1364C>A (p.Thr455Lys)
c.1214C>A (p.Thr405Lys)
5g.128393234T>ACA360749286FBN2n.1073A>T
c.1366A>T (p.Thr456Ser)
c.1267A>T (p.Thr423Ser)
c.1363A>T (p.Thr455Ser)
c.1213A>T (p.Thr405Ser)
5g.128393234T>CCA360749288FBN2n.1073A>G
c.1366A>G (p.Thr456Ala)
c.1267A>G (p.Thr423Ala)
c.1363A>G (p.Thr455Ala)
c.1213A>G (p.Thr405Ala)
 dbSNP gnomAD v2 gnomAD v4
5g.128393234T>GCA360749289FBN2n.1073A>C
c.1366A>C (p.Thr456Pro)
c.1267A>C (p.Thr423Pro)
c.1363A>C (p.Thr455Pro)
c.1213A>C (p.Thr405Pro)
5g.128393234T=CA1581293730FBN2n.1073A=
c.1366A= (p.Thr456=)
c.1267A= (p.Thr423=)
c.1363A= (p.Thr455=)
c.1213A= (p.Thr405=)
5g.128393235C>ACA239208FBN2n.1072G>T
c.1365G>T (p.Gly455=)
c.1266G>T (p.Gly422=)
c.1362G>T (p.Gly454=)
c.1212G>T (p.Gly404=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128393235C=CA1581293732FBN2n.1072G=
c.1365G= (p.Gly455=)
c.1266G= (p.Gly422=)
c.1362G= (p.Gly454=)
c.1212G= (p.Gly404=)
5g.128393235C>GCA446305802FBN2n.1072G>C
c.1365G>C (p.Gly455=)
c.1266G>C (p.Gly422=)
c.1362G>C (p.Gly454=)
c.1212G>C (p.Gly404=)
5g.128393235C>TCA446305803FBN2n.1072G>A
c.1365G>A (p.Gly455=)
c.1266G>A (p.Gly422=)
c.1362G>A (p.Gly454=)
c.1212G>A (p.Gly404=)
 gnomAD v4
5g.128393236C>ACA360749298FBN2n.1071G>T
c.1364G>T (p.Gly455Val)
c.1265G>T (p.Gly422Val)
c.1361G>T (p.Gly454Val)
c.1211G>T (p.Gly404Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128393236C=CA1581293739FBN2n.1071G=
c.1364G= (p.Gly455=)
c.1265G= (p.Gly422=)
c.1361G= (p.Gly454=)
c.1211G= (p.Gly404=)
5g.128393236C>GCA360749301FBN2n.1071G>C
c.1364G>C (p.Gly455Ala)
c.1265G>C (p.Gly422Ala)
c.1361G>C (p.Gly454Ala)
c.1211G>C (p.Gly404Ala)
 ClinVar
5g.128393236C>TCA127033815FBN2n.1071G>A
c.1364G>A (p.Gly455Glu)
c.1265G>A (p.Gly422Glu)
c.1361G>A (p.Gly454Glu)
c.1211G>A (p.Gly404Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128393237C>ACA360749314FBN2n.1070G>T
c.1363G>T (p.Gly455Trp)
c.1264G>T (p.Gly422Trp)
c.1360G>T (p.Gly454Trp)
c.1210G>T (p.Gly404Trp)
5g.128393237C=CA1581293743FBN2n.1070G=
c.1363G= (p.Gly455=)
c.1264G= (p.Gly422=)
c.1360G= (p.Gly454=)
c.1210G= (p.Gly404=)
5g.128393237C>GCA360749308FBN2n.1070G>C
c.1363G>C (p.Gly455Arg)
c.1264G>C (p.Gly422Arg)
c.1360G>C (p.Gly454Arg)
c.1210G>C (p.Gly404Arg)
5g.128393237C>TCA360749311FBN2n.1070G>A
c.1363G>A (p.Gly455Arg)
c.1264G>A (p.Gly422Arg)
c.1360G>A (p.Gly454Arg)
c.1210G>A (p.Gly404Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128393238T>ACA446305805FBN2n.1069A>T
c.1362A>T (p.Gly454=)
c.1263A>T (p.Gly421=)
c.1359A>T (p.Gly453=)
c.1209A>T (p.Gly403=)
 dbSNP gnomAD v2
5g.128393238T>CCA446305806FBN2n.1069A>G
c.1362A>G (p.Gly454=)
c.1263A>G (p.Gly421=)
c.1359A>G (p.Gly453=)
c.1209A>G (p.Gly403=)
 gnomAD v4
5g.128393238T>GCA446305804FBN2n.1069A>C
c.1362A>C (p.Gly454=)
c.1263A>C (p.Gly421=)
c.1359A>C (p.Gly453=)
c.1209A>C (p.Gly403=)
5g.128393238T=CA1581293746FBN2n.1069A=
c.1362A= (p.Gly454=)
c.1263A= (p.Gly421=)
c.1359A= (p.Gly453=)
c.1209A= (p.Gly403=)
5g.128393239C>ACA360749317FBN2n.1068G>T
c.1361G>T (p.Gly454Val)
c.1262G>T (p.Gly421Val)
c.1358G>T (p.Gly453Val)
c.1208G>T (p.Gly403Val)
 dbSNP gnomAD v2
5g.128393239C=CA1581293748FBN2n.1068G=
c.1361G= (p.Gly454=)
c.1262G= (p.Gly421=)
c.1358G= (p.Gly453=)
c.1208G= (p.Gly403=)
5g.128393239C>GCA360749320FBN2n.1068G>C
c.1361G>C (p.Gly454Ala)
c.1262G>C (p.Gly421Ala)
c.1358G>C (p.Gly453Ala)
c.1208G>C (p.Gly403Ala)
5g.128393239C>TCA360749324FBN2n.1068G>A
c.1361G>A (p.Gly454Glu)
c.1262G>A (p.Gly421Glu)
c.1358G>A (p.Gly453Glu)
c.1208G>A (p.Gly403Glu)
 dbSNP gnomAD v4 COSMIC COSMIC
5g.128393240C>ACA360749328FBN2n.1067G>T
c.1360G>T (p.Gly454Ter)
c.1261G>T (p.Gly421Ter)
c.1357G>T (p.Gly453Ter)
c.1207G>T (p.Gly403Ter)
5g.128393240C>GCA360749331FBN2n.1067G>C
c.1360G>C (p.Gly454Arg)
c.1261G>C (p.Gly421Arg)
c.1357G>C (p.Gly453Arg)
c.1207G>C (p.Gly403Arg)
5g.128393240C>TCA360749335FBN2n.1067G>A
c.1360G>A (p.Gly454Arg)
c.1261G>A (p.Gly421Arg)
c.1357G>A (p.Gly453Arg)
c.1207G>A (p.Gly403Arg)
 gnomAD v4
5g.128393241T>ACA446305807FBN2n.1066A>T
c.1359A>T (p.Pro453=)
c.1260A>T (p.Pro420=)
c.1356A>T (p.Pro452=)
c.1206A>T (p.Pro402=)
5g.128393241T>CCA446305808FBN2n.1066A>G
c.1359A>G (p.Pro453=)
c.1260A>G (p.Pro420=)
c.1356A>G (p.Pro452=)
c.1206A>G (p.Pro402=)
5g.128393241T>GCA446305809FBN2n.1066A>C
c.1359A>C (p.Pro453=)
c.1260A>C (p.Pro420=)
c.1356A>C (p.Pro452=)
c.1206A>C (p.Pro402=)
5g.128393242G>ACA360749339FBN2n.1065C>T
c.1358C>T (p.Pro453Leu)
c.1259C>T (p.Pro420Leu)
c.1355C>T (p.Pro452Leu)
c.1205C>T (p.Pro402Leu)
5g.128393242G>CCA360749342FBN2n.1065C>G
c.1358C>G (p.Pro453Arg)
c.1259C>G (p.Pro420Arg)
c.1355C>G (p.Pro452Arg)
c.1205C>G (p.Pro402Arg)
 gnomAD v4
5g.128393242G>TCA360749345FBN2n.1065C>A
c.1358C>A (p.Pro453Gln)
c.1259C>A (p.Pro420Gln)
c.1355C>A (p.Pro452Gln)
c.1205C>A (p.Pro402Gln)
5g.128393243G>ACA360749350FBN2n.1064C>T
c.1357C>T (p.Pro453Ser)
c.1258C>T (p.Pro420Ser)
c.1354C>T (p.Pro452Ser)
c.1204C>T (p.Pro402Ser)
 dbSNP
5g.128393243G>CCA360749353FBN2n.1064C>G
c.1357C>G (p.Pro453Ala)
c.1258C>G (p.Pro420Ala)
c.1354C>G (p.Pro452Ala)
c.1204C>G (p.Pro402Ala)
5g.128393243G=CA1581293751FBN2n.1064C=
c.1357C= (p.Pro453=)
c.1258C= (p.Pro420=)
c.1354C= (p.Pro452=)
c.1204C= (p.Pro402=)
5g.128393243G>TCA360749357FBN2n.1064C>A
c.1357C>A (p.Pro453Thr)
c.1258C>A (p.Pro420Thr)
c.1354C>A (p.Pro452Thr)
c.1204C>A (p.Pro402Thr)
5g.128393243_128393249delinsGGCCATACA1581293749FBN2n.1058_1064delinsTATGGCC
c.1351_1357delinsTATGGCC (p.Tyr451=)
c.1252_1258delinsTATGGCC (p.Tyr418=)
c.1348_1354delinsTATGGCC (p.Tyr450=)
c.1198_1204delinsTATGGCC (p.Tyr400=)
5g.128393244G>ACA446305810FBN2n.1063C>T
c.1356C>T (p.Gly452=)
c.1257C>T (p.Gly419=)
c.1353C>T (p.Gly451=)
c.1203C>T (p.Gly401=)
5g.128393244G>CCA446305811FBN2n.1063C>G
c.1356C>G (p.Gly452=)
c.1257C>G (p.Gly419=)
c.1353C>G (p.Gly451=)
c.1203C>G (p.Gly401=)
 dbSNP gnomAD v4
5g.128393244G=CA1581293757FBN2n.1063C=
c.1356C= (p.Gly452=)
c.1257C= (p.Gly419=)
c.1353C= (p.Gly451=)
c.1203C= (p.Gly401=)
5g.128393244G>TCA446305812FBN2n.1063C>A
c.1356C>A (p.Gly452=)
c.1257C>A (p.Gly419=)
c.1353C>A (p.Gly451=)
c.1203C>A (p.Gly401=)
5g.128393249_128393254delCA346351FBN2n.1058_1063del
c.1351_1356del (p.Tyr451_Gly452del)
c.1252_1257del (p.Tyr418_Gly419del)
c.1348_1353del (p.Tyr450_Gly451del)
c.1198_1203del (p.Tyr400_Gly401del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128393245C>ACA360749372FBN2n.1062G>T
c.1355G>T (p.Gly452Val)
c.1256G>T (p.Gly419Val)
c.1352G>T (p.Gly451Val)
c.1202G>T (p.Gly401Val)
5g.128393245C>GCA360749374FBN2n.1062G>C
c.1355G>C (p.Gly452Ala)
c.1256G>C (p.Gly419Ala)
c.1352G>C (p.Gly451Ala)
c.1202G>C (p.Gly401Ala)
5g.128393245C>TCA360749377FBN2n.1062G>A
c.1355G>A (p.Gly452Asp)
c.1256G>A (p.Gly419Asp)
c.1352G>A (p.Gly451Asp)
c.1202G>A (p.Gly401Asp)
5g.128393246C>ACA360749386FBN2n.1061G>T
c.1354G>T (p.Gly452Cys)
c.1255G>T (p.Gly419Cys)
c.1351G>T (p.Gly451Cys)
c.1201G>T (p.Gly401Cys)
5g.128393246C=CA1581293761FBN2n.1061G=
c.1354G= (p.Gly452=)
c.1255G= (p.Gly419=)
c.1351G= (p.Gly451=)
c.1201G= (p.Gly401=)
5g.128393246C>GCA3395816FBN2n.1061G>C
c.1354G>C (p.Gly452Arg)
c.1255G>C (p.Gly419Arg)
c.1351G>C (p.Gly451Arg)
c.1201G>C (p.Gly401Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128393246C>TCA360749383FBN2n.1061G>A
c.1354G>A (p.Gly452Ser)
c.1255G>A (p.Gly419Ser)
c.1351G>A (p.Gly451Ser)
c.1201G>A (p.Gly401Ser)
 dbSNP gnomAD v3 gnomAD v4
5g.128393247A>CCA360749390FBN2n.1060T>G
c.1353T>G (p.Tyr451Ter)
c.1254T>G (p.Tyr418Ter)
c.1350T>G (p.Tyr450Ter)
c.1200T>G (p.Tyr400Ter)
5g.128393247A>GCA446305813FBN2n.1060T>C
c.1353T>C (p.Tyr451=)
c.1254T>C (p.Tyr418=)
c.1350T>C (p.Tyr450=)
c.1200T>C (p.Tyr400=)
 gnomAD v4
5g.128393247A>TCA360749392FBN2n.1060T>A
c.1353T>A (p.Tyr451Ter)
c.1254T>A (p.Tyr418Ter)
c.1350T>A (p.Tyr450Ter)
c.1200T>A (p.Tyr400Ter)
5g.128393248T>ACA360749396FBN2n.1059A>T
c.1352A>T (p.Tyr451Phe)
c.1253A>T (p.Tyr418Phe)
c.1349A>T (p.Tyr450Phe)
c.1199A>T (p.Tyr400Phe)
5g.128393248T>CCA3395817FBN2n.1059A>G
c.1352A>G (p.Tyr451Cys)
c.1253A>G (p.Tyr418Cys)
c.1349A>G (p.Tyr450Cys)
c.1199A>G (p.Tyr400Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128393248T>GCA360749402FBN2n.1059A>C
c.1352A>C (p.Tyr451Ser)
c.1253A>C (p.Tyr418Ser)
c.1349A>C (p.Tyr450Ser)
c.1199A>C (p.Tyr400Ser)
5g.128393248T=CA1581293764FBN2n.1059A=
c.1352A= (p.Tyr451=)
c.1253A= (p.Tyr418=)
c.1349A= (p.Tyr450=)
c.1199A= (p.Tyr400=)
5g.128393249A=CA1581293768FBN2n.1058T=
c.1351T= (p.Tyr451=)
c.1252T= (p.Tyr418=)
c.1348T= (p.Tyr450=)
c.1198T= (p.Tyr400=)
5g.128393249A>CCA360749405FBN2n.1058T>G
c.1351T>G (p.Tyr451Asp)
c.1252T>G (p.Tyr418Asp)
c.1348T>G (p.Tyr450Asp)
c.1198T>G (p.Tyr400Asp)
5g.128393249A>GCA360749407FBN2n.1058T>C
c.1351T>C (p.Tyr451His)
c.1252T>C (p.Tyr418His)
c.1348T>C (p.Tyr450His)
c.1198T>C (p.Tyr400His)
5g.128393249A>TCA360749411FBN2n.1058T>A
c.1351T>A (p.Tyr451Asn)
c.1252T>A (p.Tyr418Asn)
c.1348T>A (p.Tyr450Asn)
c.1198T>A (p.Tyr400Asn)
5g.128393250G>ACA446305814FBN2n.1057C>T
c.1350C>T (p.Gly450=)
c.1251C>T (p.Gly417=)
c.1347C>T (p.Gly449=)
c.1197C>T (p.Gly399=)
5g.128393250G>CCA446305815FBN2n.1057C>G
c.1350C>G (p.Gly450=)
c.1251C>G (p.Gly417=)
c.1347C>G (p.Gly449=)
c.1197C>G (p.Gly399=)
5g.128393250G>TCA446305816FBN2n.1057C>A
c.1350C>A (p.Gly450=)
c.1251C>A (p.Gly417=)
c.1347C>A (p.Gly449=)
c.1197C>A (p.Gly399=)
5g.128393260_128393265dupCA324379FBN2n.1052_1057dup
c.1345_1350dup (p.Gly450_Tyr451insAsnGly)
c.1246_1251dup (p.Gly417_Tyr418insAsnGly)
c.1342_1347dup (p.Gly449_Tyr450insAsnGly)
c.1192_1197dup (p.Gly399_Tyr400insAsnGly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128393251C>ACA360749429FBN2n.1056G>T
c.1349G>T (p.Gly450Val)
c.1250G>T (p.Gly417Val)
c.1346G>T (p.Gly449Val)
c.1196G>T (p.Gly399Val)
 gnomAD v4
5g.128393251C>GCA360749424FBN2n.1056G>C
c.1349G>C (p.Gly450Ala)
c.1250G>C (p.Gly417Ala)
c.1346G>C (p.Gly449Ala)
c.1196G>C (p.Gly399Ala)
5g.128393251C>TCA360749427FBN2n.1056G>A
c.1349G>A (p.Gly450Asp)
c.1250G>A (p.Gly417Asp)
c.1346G>A (p.Gly449Asp)
c.1196G>A (p.Gly399Asp)
 gnomAD v4
5g.128393252C>ACA360749432FBN2n.1055G>T
c.1348G>T (p.Gly450Cys)
c.1249G>T (p.Gly417Cys)
c.1345G>T (p.Gly449Cys)
c.1195G>T (p.Gly399Cys)
5g.128393252C>GCA360749433FBN2n.1055G>C
c.1348G>C (p.Gly450Arg)
c.1249G>C (p.Gly417Arg)
c.1345G>C (p.Gly449Arg)
c.1195G>C (p.Gly399Arg)
5g.128393252C>TCA360749437FBN2n.1055G>A
c.1348G>A (p.Gly450Ser)
c.1249G>A (p.Gly417Ser)
c.1345G>A (p.Gly449Ser)
c.1195G>A (p.Gly399Ser)
5g.128393253A>CCA360749441FBN2n.1054T>G
c.1347T>G (p.Asn449Lys)
c.1248T>G (p.Asn416Lys)
c.1344T>G (p.Asn448Lys)
c.1194T>G (p.Asn398Lys)
 ClinVar
5g.128393253A>GCA446305817FBN2n.1054T>C
c.1347T>C (p.Asn449=)
c.1248T>C (p.Asn416=)
c.1344T>C (p.Asn448=)
c.1194T>C (p.Asn398=)
5g.128393253A>TCA360749443FBN2n.1054T>A
c.1347T>A (p.Asn449Lys)
c.1248T>A (p.Asn416Lys)
c.1344T>A (p.Asn448Lys)
c.1194T>A (p.Asn398Lys)
5g.128393254T>ACA360749446FBN2n.1053A>T
c.1346A>T (p.Asn449Ile)
c.1247A>T (p.Asn416Ile)
c.1343A>T (p.Asn448Ile)
c.1193A>T (p.Asn398Ile)
5g.128393254T>CCA3395818FBN2n.1053A>G
c.1346A>G (p.Asn449Ser)
c.1247A>G (p.Asn416Ser)
c.1343A>G (p.Asn448Ser)
c.1193A>G (p.Asn398Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128393254T>GCA360749450FBN2n.1053A>C
c.1346A>C (p.Asn449Thr)
c.1247A>C (p.Asn416Thr)
c.1343A>C (p.Asn448Thr)
c.1193A>C (p.Asn398Thr)
5g.128393254T=CA1581293777FBN2n.1053A=
c.1346A= (p.Asn449=)
c.1247A= (p.Asn416=)
c.1343A= (p.Asn448=)
c.1193A= (p.Asn398=)
5g.128393255T>ACA360749453FBN2n.1052A>T
c.1345A>T (p.Asn449Tyr)
c.1246A>T (p.Asn416Tyr)
c.1342A>T (p.Asn448Tyr)
c.1192A>T (p.Asn398Tyr)
5g.128393255T>CCA360749456FBN2n.1052A>G
c.1345A>G (p.Asn449Asp)
c.1246A>G (p.Asn416Asp)
c.1342A>G (p.Asn448Asp)
c.1192A>G (p.Asn398Asp)
5g.128393255T>GCA360749458FBN2n.1052A>C
c.1345A>C (p.Asn449His)
c.1246A>C (p.Asn416His)
c.1342A>C (p.Asn448His)
c.1192A>C (p.Asn398His)
5g.128393256G>ACA446305818FBN2n.1051C>T
c.1344C>T (p.Gly448=)
c.1245C>T (p.Gly415=)
c.1341C>T (p.Gly447=)
c.1191C>T (p.Gly397=)
 dbSNP gnomAD v2 gnomAD v4
5g.128393256G>CCA446305819FBN2n.1051C>G
c.1344C>G (p.Gly448=)
c.1245C>G (p.Gly415=)
c.1341C>G (p.Gly447=)
c.1191C>G (p.Gly397=)
5g.128393256G=CA1581293779FBN2n.1051C=
c.1344C= (p.Gly448=)
c.1245C= (p.Gly415=)
c.1341C= (p.Gly447=)
c.1191C= (p.Gly397=)
5g.128393256G>TCA446305820FBN2n.1051C>A
c.1344C>A (p.Gly448=)
c.1245C>A (p.Gly415=)
c.1341C>A (p.Gly447=)
c.1191C>A (p.Gly397=)
5g.128393257C>ACA360749465FBN2n.1050G>T
c.1343G>T (p.Gly448Val)
c.1244G>T (p.Gly415Val)
c.1340G>T (p.Gly447Val)
c.1190G>T (p.Gly397Val)
5g.128393257C=CA1581293783FBN2n.1050G=
c.1343G= (p.Gly448=)
c.1244G= (p.Gly415=)
c.1340G= (p.Gly447=)
c.1190G= (p.Gly397=)
5g.128393257C>GCA360749462FBN2n.1050G>C
c.1343G>C (p.Gly448Ala)
c.1244G>C (p.Gly415Ala)
c.1340G>C (p.Gly447Ala)
c.1190G>C (p.Gly397Ala)
5g.128393257C>TCA360749460FBN2n.1050G>A
c.1343G>A (p.Gly448Asp)
c.1244G>A (p.Gly415Asp)
c.1340G>A (p.Gly447Asp)
c.1190G>A (p.Gly397Asp)
 dbSNP gnomAD v2 gnomAD v4
5g.128393258C>ACA360749470FBN2n.1049G>T
c.1342G>T (p.Gly448Cys)
c.1243G>T (p.Gly415Cys)
c.1339G>T (p.Gly447Cys)
c.1189G>T (p.Gly397Cys)
5g.128393258C=CA1581293785FBN2n.1049G=
c.1342G= (p.Gly448=)
c.1243G= (p.Gly415=)
c.1339G= (p.Gly447=)
c.1189G= (p.Gly397=)
5g.128393258C>GCA360749473FBN2n.1049G>C
c.1342G>C (p.Gly448Arg)
c.1243G>C (p.Gly415Arg)
c.1339G>C (p.Gly447Arg)
c.1189G>C (p.Gly397Arg)
5g.128393258C>TCA3395819FBN2n.1049G>A
c.1342G>A (p.Gly448Ser)
c.1243G>A (p.Gly415Ser)
c.1339G>A (p.Gly447Ser)
c.1189G>A (p.Gly397Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128393259A>CCA360749477FBN2n.1048T>G
c.1341T>G (p.Asn447Lys)
c.1242T>G (p.Asn414Lys)
c.1338T>G (p.Asn446Lys)
c.1188T>G (p.Asn396Lys)
5g.128393259A>GCA446305821FBN2n.1048T>C
c.1341T>C (p.Asn447=)
c.1242T>C (p.Asn414=)
c.1338T>C (p.Asn446=)
c.1188T>C (p.Asn396=)
5g.128393259A>TCA360749481FBN2n.1048T>A
c.1341T>A (p.Asn447Lys)
c.1242T>A (p.Asn414Lys)
c.1338T>A (p.Asn446Lys)
c.1188T>A (p.Asn396Lys)
5g.128393260T>ACA360749491FBN2n.1047A>T
c.1340A>T (p.Asn447Ile)
c.1241A>T (p.Asn414Ile)
c.1337A>T (p.Asn446Ile)
c.1187A>T (p.Asn396Ile)
 dbSNP COSMIC COSMIC
5g.128393260T>CCA360749488FBN2n.1047A>G
c.1340A>G (p.Asn447Ser)
c.1241A>G (p.Asn414Ser)
c.1337A>G (p.Asn446Ser)
c.1187A>G (p.Asn396Ser)
 ClinVar dbSNP gnomAD v4
5g.128393260T>GCA360749485FBN2n.1047A>C
c.1340A>C (p.Asn447Thr)
c.1241A>C (p.Asn414Thr)
c.1337A>C (p.Asn446Thr)
c.1187A>C (p.Asn396Thr)
5g.128393260T=CA1581293789FBN2n.1047A=
c.1340A= (p.Asn447=)
c.1241A= (p.Asn414=)
c.1337A= (p.Asn446=)
c.1187A= (p.Asn396=)
5g.128393261T>ACA360749494FBN2n.1046A>T
c.1339A>T (p.Asn447Tyr)
c.1240A>T (p.Asn414Tyr)
c.1336A>T (p.Asn446Tyr)
c.1186A>T (p.Asn396Tyr)
5g.128393261T>CCA360749497FBN2n.1046A>G
c.1339A>G (p.Asn447Asp)
c.1240A>G (p.Asn414Asp)
c.1336A>G (p.Asn446Asp)
c.1186A>G (p.Asn396Asp)
5g.128393261T>GCA360749501FBN2n.1046A>C
c.1339A>C (p.Asn447His)
c.1240A>C (p.Asn414His)
c.1336A>C (p.Asn446His)
c.1186A>C (p.Asn396His)
5g.128393262G>ACA446305822FBN2n.1045C>T
c.1338C>T (p.Gly446=)
c.1239C>T (p.Gly413=)
c.1335C>T (p.Gly445=)
c.1185C>T (p.Gly395=)
 dbSNP
5g.128393262G>CCA16611694FBN2n.1045C>G
c.1338C>G (p.Gly446=)
c.1239C>G (p.Gly413=)
c.1335C>G (p.Gly445=)
c.1185C>G (p.Gly395=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128393262G=CA1581293796FBN2n.1045C=
c.1338C= (p.Gly446=)
c.1239C= (p.Gly413=)
c.1335C= (p.Gly445=)
c.1185C= (p.Gly395=)
5g.128393262G>TCA446305823FBN2n.1045C>A
c.1338C>A (p.Gly446=)
c.1239C>A (p.Gly413=)
c.1335C>A (p.Gly445=)
c.1185C>A (p.Gly395=)
5g.128393263C>ACA360749503FBN2n.1044G>T
c.1337G>T (p.Gly446Val)
c.1238G>T (p.Gly413Val)
c.1334G>T (p.Gly445Val)
c.1184G>T (p.Gly395Val)
5g.128393263C>GCA360749506FBN2n.1044G>C
c.1337G>C (p.Gly446Ala)
c.1238G>C (p.Gly413Ala)
c.1334G>C (p.Gly445Ala)
c.1184G>C (p.Gly395Ala)
 gnomAD v4
5g.128393263C>TCA360749508FBN2n.1044G>A
c.1337G>A (p.Gly446Asp)
c.1238G>A (p.Gly413Asp)
c.1334G>A (p.Gly445Asp)
c.1184G>A (p.Gly395Asp)
 gnomAD v4
5g.128393264C>ACA360749511FBN2n.1043G>T
c.1336G>T (p.Gly446Cys)
c.1237G>T (p.Gly413Cys)
c.1333G>T (p.Gly445Cys)
c.1183G>T (p.Gly395Cys)
5g.128393264C=CA1581293808FBN2n.1043G=
c.1336G= (p.Gly446=)
c.1237G= (p.Gly413=)
c.1333G= (p.Gly445=)
c.1183G= (p.Gly395=)
5g.128393264C>GCA360749518FBN2n.1043G>C
c.1336G>C (p.Gly446Arg)
c.1237G>C (p.Gly413Arg)
c.1333G>C (p.Gly445Arg)
c.1183G>C (p.Gly395Arg)
5g.128393264C>TCA360749514FBN2n.1043G>A
c.1336G>A (p.Gly446Ser)
c.1237G>A (p.Gly413Ser)
c.1333G>A (p.Gly445Ser)
c.1183G>A (p.Gly395Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.128393265A>CCA360749521FBN2n.1042T>G
c.1335T>G (p.Ser445Arg)
c.1236T>G (p.Ser412Arg)
c.1332T>G (p.Ser444Arg)
c.1182T>G (p.Ser394Arg)
 gnomAD v4
5g.128393265A>GCA446305824FBN2n.1042T>C
c.1335T>C (p.Ser445=)
c.1236T>C (p.Ser412=)
c.1332T>C (p.Ser444=)
c.1182T>C (p.Ser394=)
5g.128393265A>TCA360749525FBN2n.1042T>A
c.1335T>A (p.Ser445Arg)
c.1236T>A (p.Ser412Arg)
c.1332T>A (p.Ser444Arg)
c.1182T>A (p.Ser394Arg)
5g.128393266C>ACA360749529FBN2n.1041G>T
c.1334G>T (p.Ser445Ile)
c.1235G>T (p.Ser412Ile)
c.1331G>T (p.Ser444Ile)
c.1181G>T (p.Ser394Ile)
5g.128393266C=CA1581293810FBN2n.1041G=
c.1334G= (p.Ser445=)
c.1235G= (p.Ser412=)
c.1331G= (p.Ser444=)
c.1181G= (p.Ser394=)
5g.128393266C>GCA360749532FBN2n.1041G>C
c.1334G>C (p.Ser445Thr)
c.1235G>C (p.Ser412Thr)
c.1331G>C (p.Ser444Thr)
c.1181G>C (p.Ser394Thr)
5g.128393266C>TCA360749536FBN2n.1041G>A
c.1334G>A (p.Ser445Asn)
c.1235G>A (p.Ser412Asn)
c.1331G>A (p.Ser444Asn)
c.1181G>A (p.Ser394Asn)
 dbSNP gnomAD v4
5g.128393267T>ACA360749540FBN2n.1040A>T
c.1333A>T (p.Ser445Cys)
c.1234A>T (p.Ser412Cys)
c.1330A>T (p.Ser444Cys)
c.1180A>T (p.Ser394Cys)
5g.128393267T>CCA3395820FBN2n.1040A>G
c.1333A>G (p.Ser445Gly)
c.1234A>G (p.Ser412Gly)
c.1330A>G (p.Ser444Gly)
c.1180A>G (p.Ser394Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.128393267T>GCA360749546FBN2n.1040A>C
c.1333A>C (p.Ser445Arg)
c.1234A>C (p.Ser412Arg)
c.1330A>C (p.Ser444Arg)
c.1180A>C (p.Ser394Arg)
5g.128393267T=CA1581293817FBN2n.1040A=
c.1333A= (p.Ser445=)
c.1234A= (p.Ser412=)
c.1330A= (p.Ser444=)
c.1180A= (p.Ser394=)
5g.128393268T>ACA446305826FBN2n.1039A>T
c.1332A>T (p.Pro444=)
c.1233A>T (p.Pro411=)
c.1329A>T (p.Pro443=)
c.1179A>T (p.Pro393=)
5g.128393268T>CCA446305827FBN2n.1039A>G
c.1332A>G (p.Pro444=)
c.1233A>G (p.Pro411=)
c.1329A>G (p.Pro443=)
c.1179A>G (p.Pro393=)
5g.128393268T>GCA446305828FBN2n.1039A>C
c.1332A>C (p.Pro444=)
c.1233A>C (p.Pro411=)
c.1329A>C (p.Pro443=)
c.1179A>C (p.Pro393=)
5g.128393269G>ACA360749551FBN2n.1038C>T
c.1331C>T (p.Pro444Leu)
c.1232C>T (p.Pro411Leu)
c.1328C>T (p.Pro443Leu)
c.1178C>T (p.Pro393Leu)
 gnomAD v4
5g.128393269G>CCA360749554FBN2n.1038C>G
c.1331C>G (p.Pro444Arg)
c.1232C>G (p.Pro411Arg)
c.1328C>G (p.Pro443Arg)
c.1178C>G (p.Pro393Arg)
5g.128393269G>TCA360749559FBN2n.1038C>A
c.1331C>A (p.Pro444Gln)
c.1232C>A (p.Pro411Gln)
c.1328C>A (p.Pro443Gln)
c.1178C>A (p.Pro393Gln)
5g.128393270G>ACA360749566FBN2n.1037C>T
c.1330C>T (p.Pro444Ser)
c.1231C>T (p.Pro411Ser)
c.1327C>T (p.Pro443Ser)
c.1177C>T (p.Pro393Ser)
5g.128393270G>CCA360749568FBN2n.1037C>G
c.1330C>G (p.Pro444Ala)
c.1231C>G (p.Pro411Ala)
c.1327C>G (p.Pro443Ala)
c.1177C>G (p.Pro393Ala)
 ClinVar
5g.128393270G>TCA360749564FBN2n.1037C>A
c.1330C>A (p.Pro444Thr)
c.1231C>A (p.Pro411Thr)
c.1327C>A (p.Pro443Thr)
c.1177C>A (p.Pro393Thr)
5g.128393271G>ACA446305829FBN2n.1036C>T
c.1329C>T (p.Ala443=)
c.1230C>T (p.Ala410=)
c.1326C>T (p.Ala442=)
c.1176C>T (p.Ala392=)
 dbSNP gnomAD v3 gnomAD v4
5g.128393271G>CCA446305831FBN2n.1036C>G
c.1329C>G (p.Ala443=)
c.1230C>G (p.Ala410=)
c.1326C>G (p.Ala442=)
c.1176C>G (p.Ala392=)
5g.128393271G=CA1581293822FBN2n.1036C=
c.1329C= (p.Ala443=)
c.1230C= (p.Ala410=)
c.1326C= (p.Ala442=)
c.1176C= (p.Ala392=)
5g.128393271G>TCA446305830FBN2n.1036C>A
c.1329C>A (p.Ala443=)
c.1230C>A (p.Ala410=)
c.1326C>A (p.Ala442=)
c.1176C>A (p.Ala392=)
5g.128393272G>ACA321497FBN2n.1035C>T
c.1328C>T (p.Ala443Val)
c.1229C>T (p.Ala410Val)
c.1325C>T (p.Ala442Val)
c.1175C>T (p.Ala392Val)
 ClinVar dbSNP gnomAD v4
5g.128393272G>CCA360749572FBN2n.1035C>G
c.1328C>G (p.Ala443Gly)
c.1229C>G (p.Ala410Gly)
c.1325C>G (p.Ala442Gly)
c.1175C>G (p.Ala392Gly)
5g.128393272G=CA1581293827FBN2n.1035C=
c.1328C= (p.Ala443=)
c.1229C= (p.Ala410=)
c.1325C= (p.Ala442=)
c.1175C= (p.Ala392=)
5g.128393272G>TCA360749577FBN2n.1035C>A
c.1328C>A (p.Ala443Asp)
c.1229C>A (p.Ala410Asp)
c.1325C>A (p.Ala442Asp)
c.1175C>A (p.Ala392Asp)
5g.128393273C>ACA3395821FBN2n.1034G>T
c.1327G>T (p.Ala443Ser)
c.1228G>T (p.Ala410Ser)
c.1324G>T (p.Ala442Ser)
c.1174G>T (p.Ala392Ser)
 dbSNP ExAC
5g.128393273C=CA1581293831FBN2n.1034G=
c.1327G= (p.Ala443=)
c.1228G= (p.Ala410=)
c.1324G= (p.Ala442=)
c.1174G= (p.Ala392=)
5g.128393273C>GCA360749586FBN2n.1034G>C
c.1327G>C (p.Ala443Pro)
c.1228G>C (p.Ala410Pro)
c.1324G>C (p.Ala442Pro)
c.1174G>C (p.Ala392Pro)
5g.128393273C>TCA360749584FBN2n.1034G>A
c.1327G>A (p.Ala443Thr)
c.1228G>A (p.Ala410Thr)
c.1324G>A (p.Ala442Thr)
c.1174G>A (p.Ala392Thr)
5g.128393274A>CCA360749590FBN2n.1033T>G
c.1326T>G (p.Phe442Leu)
c.1227T>G (p.Phe409Leu)
c.1323T>G (p.Phe441Leu)
c.1173T>G (p.Phe391Leu)
5g.128393274A>GCA446305832FBN2n.1033T>C
c.1326T>C (p.Phe442=)
c.1227T>C (p.Phe409=)
c.1323T>C (p.Phe441=)
c.1173T>C (p.Phe391=)
5g.128393274A>TCA360749592FBN2n.1033T>A
c.1326T>A (p.Phe442Leu)
c.1227T>A (p.Phe409Leu)
c.1323T>A (p.Phe441Leu)
c.1173T>A (p.Phe391Leu)
5g.128393275A>CCA360749596FBN2n.1032T>G
c.1325T>G (p.Phe442Cys)
c.1226T>G (p.Phe409Cys)
c.1322T>G (p.Phe441Cys)
c.1172T>G (p.Phe391Cys)
5g.128393275A>GCA360749600FBN2n.1032T>C
c.1325T>C (p.Phe442Ser)
c.1226T>C (p.Phe409Ser)
c.1322T>C (p.Phe441Ser)
c.1172T>C (p.Phe391Ser)
5g.128393275A>TCA360749603FBN2n.1032T>A
c.1325T>A (p.Phe442Tyr)
c.1226T>A (p.Phe409Tyr)
c.1322T>A (p.Phe441Tyr)
c.1172T>A (p.Phe391Tyr)
5g.128393276A>CCA360749609FBN2n.1031T>G
c.1324T>G (p.Phe442Val)
c.1225T>G (p.Phe409Val)
c.1321T>G (p.Phe441Val)
c.1171T>G (p.Phe391Val)
5g.128393276A>GCA360749612FBN2n.1031T>C
c.1324T>C (p.Phe442Leu)
c.1225T>C (p.Phe409Leu)
c.1321T>C (p.Phe441Leu)
c.1171T>C (p.Phe391Leu)
 gnomAD v4
5g.128393276A>TCA360749615FBN2n.1031T>A
c.1324T>A (p.Phe442Ile)
c.1225T>A (p.Phe409Ile)
c.1321T>A (p.Phe441Ile)
c.1171T>A (p.Phe391Ile)
5g.128393277G>ACA446305834FBN2n.1030C>T
c.1323C>T (p.Gly441=)
c.1224C>T (p.Gly408=)
c.1320C>T (p.Gly440=)
c.1170C>T (p.Gly390=)
5g.128393277G>CCA446305836FBN2n.1030C>G
c.1323C>G (p.Gly441=)
c.1224C>G (p.Gly408=)
c.1320C>G (p.Gly440=)
c.1170C>G (p.Gly390=)
5g.128393277G>TCA446305838FBN2n.1030C>A
c.1323C>A (p.Gly441=)
c.1224C>A (p.Gly408=)
c.1320C>A (p.Gly440=)
c.1170C>A (p.Gly390=)
 gnomAD v4

Number of alleles fetched