Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128393107delCA2578396681FBN2n.1172+30del
c.1465+30del (n.1465+30del)
c.1366+30del (n.1366+30del)
c.1462+30del (n.1462+30del)
c.1312+30del (n.1312+30del)
5g.128393106_128393107delCA2675120516FBN2n.1172+29_1172+30del
c.1465+29_1465+30del (n.1465+29_1465+30del)
c.1366+29_1366+30del (n.1366+29_1366+30del)
c.1462+29_1462+30del (n.1462+29_1462+30del)
c.1312+29_1312+30del (n.1312+29_1312+30del)
 gnomAD v4
5g.128393106_128393109delCA2675120517FBN2n.1172+27_1172+30del
c.1465+27_1465+30del (n.1465+27_1465+30del)
c.1366+27_1366+30del (n.1366+27_1366+30del)
c.1462+27_1462+30del (n.1462+27_1462+30del)
c.1312+27_1312+30del (n.1312+27_1312+30del)
 gnomAD v4
5g.128393107A=CA1581293512FBN2n.1172+28T=
c.1465+28T= (n.1465+28T=)
c.1366+28T= (n.1366+28T=)
c.1462+28T= (n.1462+28T=)
c.1312+28T= (n.1312+28T=)
5g.128393107A>GCA127033689FBN2n.1172+28T>C
c.1465+28T>C (n.1465+28T>C)
c.1366+28T>C (n.1366+28T>C)
c.1462+28T>C (n.1462+28T>C)
c.1312+28T>C (n.1312+28T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128393109A>GCA2675120519FBN2n.1172+26T>C
c.1465+26T>C (n.1465+26T>C)
c.1366+26T>C (n.1366+26T>C)
c.1462+26T>C (n.1462+26T>C)
c.1312+26T>C (n.1312+26T>C)
 gnomAD v4
5g.128393110G>ACA3395798FBN2n.1172+25C>T
c.1465+25C>T (n.1465+25C>T)
c.1366+25C>T (n.1366+25C>T)
c.1462+25C>T (n.1462+25C>T)
c.1312+25C>T (n.1312+25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128393110G=CA1581293515FBN2n.1172+25C=
c.1465+25C= (n.1465+25C=)
c.1366+25C= (n.1366+25C=)
c.1462+25C= (n.1462+25C=)
c.1312+25C= (n.1312+25C=)
5g.128393110G>TCA2578396682FBN2n.1172+25C>A
c.1465+25C>A (n.1465+25C>A)
c.1366+25C>A (n.1366+25C>A)
c.1462+25C>A (n.1462+25C>A)
c.1312+25C>A (n.1312+25C>A)
 gnomAD v4
5g.128393112C>ACA2768337295FBN2n.1172+23G>T
c.1465+23G>T (n.1465+23G>T)
c.1366+23G>T (n.1366+23G>T)
c.1462+23G>T (n.1462+23G>T)
c.1312+23G>T (n.1312+23G>T)
5g.128393112C=CA1581293518FBN2n.1172+23G=
c.1465+23G= (n.1465+23G=)
c.1366+23G= (n.1366+23G=)
c.1462+23G= (n.1462+23G=)
c.1312+23G= (n.1312+23G=)
5g.128393112C>TCA562702394FBN2n.1172+23G>A
c.1465+23G>A (n.1465+23G>A)
c.1366+23G>A (n.1366+23G>A)
c.1462+23G>A (n.1462+23G>A)
c.1312+23G>A (n.1312+23G>A)
 dbSNP gnomAD v2 gnomAD v4
5g.128393113C=CA1581293519FBN2n.1172+22G=
c.1465+22G= (n.1465+22G=)
c.1366+22G= (n.1366+22G=)
c.1462+22G= (n.1462+22G=)
c.1312+22G= (n.1312+22G=)
5g.128393113C>TCA1081372853FBN2n.1172+22G>A
c.1465+22G>A (n.1465+22G>A)
c.1366+22G>A (n.1366+22G>A)
c.1462+22G>A (n.1462+22G>A)
c.1312+22G>A (n.1312+22G>A)
 dbSNP gnomAD v3 gnomAD v4
5g.128393115C>TCA2578396683FBN2n.1172+20G>A
c.1465+20G>A (n.1465+20G>A)
c.1366+20G>A (n.1366+20G>A)
c.1462+20G>A (n.1462+20G>A)
c.1312+20G>A (n.1312+20G>A)
 gnomAD v4
5g.128393116A>CCA2675120520FBN2n.1172+19T>G
c.1465+19T>G (n.1465+19T>G)
c.1366+19T>G (n.1366+19T>G)
c.1462+19T>G (n.1462+19T>G)
c.1312+19T>G (n.1312+19T>G)
 gnomAD v4
5g.128393117G>TCA2578396684FBN2n.1172+18C>A
c.1465+18C>A (n.1465+18C>A)
c.1366+18C>A (n.1366+18C>A)
c.1462+18C>A (n.1462+18C>A)
c.1312+18C>A (n.1312+18C>A)
5g.128393118G>ACA2580072611FBN2n.1172+17C>T
c.1465+17C>T (n.1465+17C>T)
c.1366+17C>T (n.1366+17C>T)
c.1462+17C>T (n.1462+17C>T)
c.1312+17C>T (n.1312+17C>T)
 ClinVar gnomAD v4
5g.128393123C=CA1581293522FBN2n.1172+12G=
c.1465+12G= (n.1465+12G=)
c.1366+12G= (n.1366+12G=)
c.1462+12G= (n.1462+12G=)
c.1312+12G= (n.1312+12G=)
5g.128393123C>TCA562702395FBN2n.1172+12G>A
c.1465+12G>A (n.1465+12G>A)
c.1366+12G>A (n.1366+12G>A)
c.1462+12G>A (n.1462+12G>A)
c.1312+12G>A (n.1312+12G>A)
 dbSNP gnomAD v2 gnomAD v4
5g.128393125G>TCA2675120521FBN2n.1172+10C>A
c.1465+10C>A (n.1465+10C>A)
c.1366+10C>A (n.1366+10C>A)
c.1462+10C>A (n.1462+10C>A)
c.1312+10C>A (n.1312+10C>A)
 gnomAD v4
5g.128393131T>ACA645548763FBN2n.1172+4A>T
c.1465+4A>T (n.1465+4A>T)
c.1366+4A>T (n.1366+4A>T)
c.1462+4A>T (n.1462+4A>T)
c.1312+4A>T (n.1312+4A>T)
 COSMIC
5g.128393131T>CCA2768337296FBN2n.1172+4A>G
c.1465+4A>G (n.1465+4A>G)
c.1366+4A>G (n.1366+4A>G)
c.1462+4A>G (n.1462+4A>G)
c.1312+4A>G (n.1312+4A>G)
5g.128393133A>CCA360748791FBN2n.1172+2T>G
c.1465+2T>G (n.1465+2T>G)
c.1366+2T>G (n.1366+2T>G)
c.1462+2T>G (n.1462+2T>G)
c.1312+2T>G (n.1312+2T>G)
5g.128393133A>GCA360748795FBN2n.1172+2T>C
c.1465+2T>C (n.1465+2T>C)
c.1366+2T>C (n.1366+2T>C)
c.1462+2T>C (n.1462+2T>C)
c.1312+2T>C (n.1312+2T>C)
5g.128393133A>TCA360748796FBN2n.1172+2T>A
c.1465+2T>A (n.1465+2T>A)
c.1366+2T>A (n.1366+2T>A)
c.1462+2T>A (n.1462+2T>A)
c.1312+2T>A (n.1312+2T>A)
5g.128393134C>ACA360748800FBN2n.1172+1G>T
c.1465+1G>T (n.1465+1G>T)
c.1366+1G>T (n.1366+1G>T)
c.1462+1G>T (n.1462+1G>T)
c.1312+1G>T (n.1312+1G>T)
5g.128393134C>GCA360748803FBN2n.1172+1G>C
c.1465+1G>C (n.1465+1G>C)
c.1366+1G>C (n.1366+1G>C)
c.1462+1G>C (n.1462+1G>C)
c.1312+1G>C (n.1312+1G>C)
5g.128393134C>TCA360748807FBN2n.1172+1G>A
c.1465+1G>A (n.1465+1G>A)
c.1366+1G>A (n.1366+1G>A)
c.1462+1G>A (n.1462+1G>A)
c.1312+1G>A (n.1312+1G>A)
 ClinVar dbSNP
5g.128393135T>ACA360748810FBN2n.1172A>T
c.1465A>T (p.Thr489Ser)
c.1366A>T (p.Thr456Ser)
c.1462A>T (p.Thr488Ser)
c.1312A>T (p.Thr438Ser)
5g.128393135T>CCA360748813FBN2n.1172A>G
c.1465A>G (p.Thr489Ala)
c.1366A>G (p.Thr456Ala)
c.1462A>G (p.Thr488Ala)
c.1312A>G (p.Thr438Ala)
 gnomAD v4
5g.128393135T>GCA360748815FBN2n.1172A>C
c.1465A>C (p.Thr489Pro)
c.1366A>C (p.Thr456Pro)
c.1462A>C (p.Thr488Pro)
c.1312A>C (p.Thr438Pro)
 COSMIC COSMIC
5g.128393136T>ACA446305724FBN2n.1171A>T
c.1464A>T (p.Leu488=)
c.1365A>T (p.Leu455=)
c.1461A>T (p.Leu487=)
c.1311A>T (p.Leu437=)
 gnomAD v4
5g.128393136T>CCA446305722FBN2n.1171A>G
c.1464A>G (p.Leu488=)
c.1365A>G (p.Leu455=)
c.1461A>G (p.Leu487=)
c.1311A>G (p.Leu437=)
5g.128393136T>GCA446305723FBN2n.1171A>C
c.1464A>C (p.Leu488=)
c.1365A>C (p.Leu455=)
c.1461A>C (p.Leu487=)
c.1311A>C (p.Leu437=)
5g.128393137A>CCA360748825FBN2n.1170T>G
c.1463T>G (p.Leu488Arg)
c.1364T>G (p.Leu455Arg)
c.1460T>G (p.Leu487Arg)
c.1310T>G (p.Leu437Arg)
5g.128393137A>GCA360748818FBN2n.1170T>C
c.1463T>C (p.Leu488Pro)
c.1364T>C (p.Leu455Pro)
c.1460T>C (p.Leu487Pro)
c.1310T>C (p.Leu437Pro)
5g.128393137A>TCA360748822FBN2n.1170T>A
c.1463T>A (p.Leu488Gln)
c.1364T>A (p.Leu455Gln)
c.1460T>A (p.Leu487Gln)
c.1310T>A (p.Leu437Gln)
5g.128393138G>ACA446305725FBN2n.1169C>T
c.1462C>T (p.Leu488=)
c.1363C>T (p.Leu455=)
c.1459C>T (p.Leu487=)
c.1309C>T (p.Leu437=)
5g.128393138G>CCA360748829FBN2n.1169C>G
c.1462C>G (p.Leu488Val)
c.1363C>G (p.Leu455Val)
c.1459C>G (p.Leu487Val)
c.1309C>G (p.Leu437Val)
5g.128393138G>TCA360748832FBN2n.1169C>A
c.1462C>A (p.Leu488Ile)
c.1363C>A (p.Leu455Ile)
c.1459C>A (p.Leu487Ile)
c.1309C>A (p.Leu437Ile)
5g.128393139T>ACA446305726FBN2n.1168A>T
c.1461A>T (p.Gly487=)
c.1362A>T (p.Gly454=)
c.1458A>T (p.Gly486=)
c.1308A>T (p.Gly436=)
5g.128393139T>CCA446305727FBN2n.1168A>G
c.1461A>G (p.Gly487=)
c.1362A>G (p.Gly454=)
c.1458A>G (p.Gly486=)
c.1308A>G (p.Gly436=)
 dbSNP
5g.128393139T>GCA446305728FBN2n.1168A>C
c.1461A>C (p.Gly487=)
c.1362A>C (p.Gly454=)
c.1458A>C (p.Gly486=)
c.1308A>C (p.Gly436=)
 gnomAD v4
5g.128393139T=CA1581293527FBN2n.1168A=
c.1461A= (p.Gly487=)
c.1362A= (p.Gly454=)
c.1458A= (p.Gly486=)
c.1308A= (p.Gly436=)
5g.128393140C>ACA360748835FBN2n.1167G>T
c.1460G>T (p.Gly487Val)
c.1361G>T (p.Gly454Val)
c.1457G>T (p.Gly486Val)
c.1307G>T (p.Gly436Val)
5g.128393140C>GCA360748838FBN2n.1167G>C
c.1460G>C (p.Gly487Ala)
c.1361G>C (p.Gly454Ala)
c.1457G>C (p.Gly486Ala)
c.1307G>C (p.Gly436Ala)
5g.128393140C>TCA360748841FBN2n.1167G>A
c.1460G>A (p.Gly487Glu)
c.1361G>A (p.Gly454Glu)
c.1457G>A (p.Gly486Glu)
c.1307G>A (p.Gly436Glu)
5g.128393141C>ACA360748846FBN2n.1166G>T
c.1459G>T (p.Gly487Ter)
c.1360G>T (p.Gly454Ter)
c.1456G>T (p.Gly486Ter)
c.1306G>T (p.Gly436Ter)
5g.128393141C>GCA360748849FBN2n.1166G>C
c.1459G>C (p.Gly487Arg)
c.1360G>C (p.Gly454Arg)
c.1456G>C (p.Gly486Arg)
c.1306G>C (p.Gly436Arg)
5g.128393141C>TCA360748852FBN2n.1166G>A
c.1459G>A (p.Gly487Arg)
c.1360G>A (p.Gly454Arg)
c.1456G>A (p.Gly486Arg)
c.1306G>A (p.Gly436Arg)
5g.128393142A>CCA446305729FBN2n.1165T>G
c.1458T>G (p.Thr486=)
c.1359T>G (p.Thr453=)
c.1455T>G (p.Thr485=)
c.1305T>G (p.Thr435=)
5g.128393142A>GCA446305731FBN2n.1165T>C
c.1458T>C (p.Thr486=)
c.1359T>C (p.Thr453=)
c.1455T>C (p.Thr485=)
c.1305T>C (p.Thr435=)
5g.128393142A>TCA446305730FBN2n.1165T>A
c.1458T>A (p.Thr486=)
c.1359T>A (p.Thr453=)
c.1455T>A (p.Thr485=)
c.1305T>A (p.Thr435=)
 ClinVar
5g.128393143G>ACA360748856FBN2n.1164C>T
c.1457C>T (p.Thr486Ile)
c.1358C>T (p.Thr453Ile)
c.1454C>T (p.Thr485Ile)
c.1304C>T (p.Thr435Ile)
5g.128393143G>CCA360748857FBN2n.1164C>G
c.1457C>G (p.Thr486Ser)
c.1358C>G (p.Thr453Ser)
c.1454C>G (p.Thr485Ser)
c.1304C>G (p.Thr435Ser)
 dbSNP
5g.128393143G=CA1581293529FBN2n.1164C=
c.1457C= (p.Thr486=)
c.1358C= (p.Thr453=)
c.1454C= (p.Thr485=)
c.1304C= (p.Thr435=)
5g.128393143G>TCA360748859FBN2n.1164C>A
c.1457C>A (p.Thr486Asn)
c.1358C>A (p.Thr453Asn)
c.1454C>A (p.Thr485Asn)
c.1304C>A (p.Thr435Asn)
5g.128393144T>ACA360748866FBN2n.1163A>T
c.1456A>T (p.Thr486Ser)
c.1357A>T (p.Thr453Ser)
c.1453A>T (p.Thr485Ser)
c.1303A>T (p.Thr435Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128393144T>CCA360748868FBN2n.1163A>G
c.1456A>G (p.Thr486Ala)
c.1357A>G (p.Thr453Ala)
c.1453A>G (p.Thr485Ala)
c.1303A>G (p.Thr435Ala)
 dbSNP
5g.128393144T>GCA360748863FBN2n.1163A>C
c.1456A>C (p.Thr486Pro)
c.1357A>C (p.Thr453Pro)
c.1453A>C (p.Thr485Pro)
c.1303A>C (p.Thr435Pro)
5g.128393144T=CA1581293532FBN2n.1163A=
c.1456A= (p.Thr486=)
c.1357A= (p.Thr453=)
c.1453A= (p.Thr485=)
c.1303A= (p.Thr435=)
5g.128393145G>ACA446305732FBN2n.1162C>T
c.1455C>T (p.Ile485=)
c.1356C>T (p.Ile452=)
c.1452C>T (p.Ile484=)
c.1302C>T (p.Ile434=)
5g.128393145G>CCA360748870FBN2n.1162C>G
c.1455C>G (p.Ile485Met)
c.1356C>G (p.Ile452Met)
c.1452C>G (p.Ile484Met)
c.1302C>G (p.Ile434Met)
5g.128393145G>TCA446305733FBN2n.1162C>A
c.1455C>A (p.Ile485=)
c.1356C>A (p.Ile452=)
c.1452C>A (p.Ile484=)
c.1302C>A (p.Ile434=)
 gnomAD v4
5g.128393146A>CCA360748872FBN2n.1161T>G
c.1454T>G (p.Ile485Ser)
c.1355T>G (p.Ile452Ser)
c.1451T>G (p.Ile484Ser)
c.1301T>G (p.Ile434Ser)
5g.128393146A>GCA360748875FBN2n.1161T>C
c.1454T>C (p.Ile485Thr)
c.1355T>C (p.Ile452Thr)
c.1451T>C (p.Ile484Thr)
c.1301T>C (p.Ile434Thr)
5g.128393146A>TCA360748877FBN2n.1161T>A
c.1454T>A (p.Ile485Asn)
c.1355T>A (p.Ile452Asn)
c.1451T>A (p.Ile484Asn)
c.1301T>A (p.Ile434Asn)
 dbSNP
5g.128393147T>ACA360748880FBN2n.1160A>T
c.1453A>T (p.Ile485Phe)
c.1354A>T (p.Ile452Phe)
c.1450A>T (p.Ile484Phe)
c.1300A>T (p.Ile434Phe)
5g.128393147T>CCA320457FBN2n.1160A>G
c.1453A>G (p.Ile485Val)
c.1354A>G (p.Ile452Val)
c.1450A>G (p.Ile484Val)
c.1300A>G (p.Ile434Val)
 ClinVar dbSNP ExAC gnomAD v2
5g.128393147T>GCA360748883FBN2n.1160A>C
c.1453A>C (p.Ile485Leu)
c.1354A>C (p.Ile452Leu)
c.1450A>C (p.Ile484Leu)
c.1300A>C (p.Ile434Leu)
5g.128393147T=CA1581293535FBN2n.1160A=
c.1453A= (p.Ile485=)
c.1354A= (p.Ile452=)
c.1450A= (p.Ile484=)
c.1300A= (p.Ile434=)
5g.128393148G>ACA446305734FBN2n.1159C>T
c.1452C>T (p.Ile484=)
c.1353C>T (p.Ile451=)
c.1449C>T (p.Ile483=)
c.1299C>T (p.Ile433=)
 ClinVar gnomAD v4
5g.128393148G>CCA360748885FBN2n.1159C>G
c.1452C>G (p.Ile484Met)
c.1353C>G (p.Ile451Met)
c.1449C>G (p.Ile483Met)
c.1299C>G (p.Ile433Met)
5g.128393148G>TCA446305735FBN2n.1159C>A
c.1452C>A (p.Ile484=)
c.1353C>A (p.Ile451=)
c.1449C>A (p.Ile483=)
c.1299C>A (p.Ile433=)
 COSMIC COSMIC
5g.128393149A>CCA360748888FBN2n.1158T>G
c.1451T>G (p.Ile484Ser)
c.1352T>G (p.Ile451Ser)
c.1448T>G (p.Ile483Ser)
c.1298T>G (p.Ile433Ser)
5g.128393149A>GCA360748890FBN2n.1158T>C
c.1451T>C (p.Ile484Thr)
c.1352T>C (p.Ile451Thr)
c.1448T>C (p.Ile483Thr)
c.1298T>C (p.Ile433Thr)
5g.128393149A>TCA360748893FBN2n.1158T>A
c.1451T>A (p.Ile484Asn)
c.1352T>A (p.Ile451Asn)
c.1448T>A (p.Ile483Asn)
c.1298T>A (p.Ile433Asn)
5g.128393150T>ACA360748896FBN2n.1157A>T
c.1450A>T (p.Ile484Phe)
c.1351A>T (p.Ile451Phe)
c.1447A>T (p.Ile483Phe)
c.1297A>T (p.Ile433Phe)
 gnomAD v4
5g.128393150T>CCA360748898FBN2n.1157A>G
c.1450A>G (p.Ile484Val)
c.1351A>G (p.Ile451Val)
c.1447A>G (p.Ile483Val)
c.1297A>G (p.Ile433Val)
 gnomAD v4
5g.128393150T>GCA360748900FBN2n.1157A>C
c.1450A>C (p.Ile484Leu)
c.1351A>C (p.Ile451Leu)
c.1447A>C (p.Ile483Leu)
c.1297A>C (p.Ile433Leu)
5g.128393151A>CCA446305736FBN2n.1156T>G
c.1449T>G (p.Pro483=)
c.1350T>G (p.Pro450=)
c.1446T>G (p.Pro482=)
c.1296T>G (p.Pro432=)
5g.128393151A>GCA446305737FBN2n.1156T>C
c.1449T>C (p.Pro483=)
c.1350T>C (p.Pro450=)
c.1446T>C (p.Pro482=)
c.1296T>C (p.Pro432=)
5g.128393151A>TCA446305738FBN2n.1156T>A
c.1449T>A (p.Pro483=)
c.1350T>A (p.Pro450=)
c.1446T>A (p.Pro482=)
c.1296T>A (p.Pro432=)
5g.128393152G>ACA360748903FBN2n.1155C>T
c.1448C>T (p.Pro483Leu)
c.1349C>T (p.Pro450Leu)
c.1445C>T (p.Pro482Leu)
c.1295C>T (p.Pro432Leu)
5g.128393152G>CCA360748907FBN2n.1155C>G
c.1448C>G (p.Pro483Arg)
c.1349C>G (p.Pro450Arg)
c.1445C>G (p.Pro482Arg)
c.1295C>G (p.Pro432Arg)
5g.128393152G>TCA360748905FBN2n.1155C>A
c.1448C>A (p.Pro483His)
c.1349C>A (p.Pro450His)
c.1445C>A (p.Pro482His)
c.1295C>A (p.Pro432His)
5g.128393153G>ACA3395800FBN2n.1154C>T
c.1447C>T (p.Pro483Ser)
c.1348C>T (p.Pro450Ser)
c.1444C>T (p.Pro482Ser)
c.1294C>T (p.Pro432Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128393153G>CCA3395799FBN2n.1154C>G
c.1447C>G (p.Pro483Ala)
c.1348C>G (p.Pro450Ala)
c.1444C>G (p.Pro482Ala)
c.1294C>G (p.Pro432Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128393153G=CA1581293541FBN2n.1154C=
c.1447C= (p.Pro483=)
c.1348C= (p.Pro450=)
c.1444C= (p.Pro482=)
c.1294C= (p.Pro432=)
5g.128393153G>TCA360748912FBN2n.1154C>A
c.1447C>A (p.Pro483Thr)
c.1348C>A (p.Pro450Thr)
c.1444C>A (p.Pro482Thr)
c.1294C>A (p.Pro432Thr)
 gnomAD v4
5g.128393154T>ACA446305739FBN2n.1153A>T
c.1446A>T (p.Gly482=)
c.1347A>T (p.Gly449=)
c.1443A>T (p.Gly481=)
c.1293A>T (p.Gly431=)
 gnomAD v4
5g.128393154T>CCA446305740FBN2n.1153A>G
c.1446A>G (p.Gly482=)
c.1347A>G (p.Gly449=)
c.1443A>G (p.Gly481=)
c.1293A>G (p.Gly431=)
 gnomAD v4
5g.128393154T>GCA446305741FBN2n.1153A>C
c.1446A>C (p.Gly482=)
c.1347A>C (p.Gly449=)
c.1443A>C (p.Gly481=)
c.1293A>C (p.Gly431=)
5g.128393155C>ACA360748914FBN2n.1152G>T
c.1445G>T (p.Gly482Val)
c.1346G>T (p.Gly449Val)
c.1442G>T (p.Gly481Val)
c.1292G>T (p.Gly431Val)
 gnomAD v4
5g.128393155C>GCA360748916FBN2n.1152G>C
c.1445G>C (p.Gly482Ala)
c.1346G>C (p.Gly449Ala)
c.1442G>C (p.Gly481Ala)
c.1292G>C (p.Gly431Ala)
5g.128393155C>TCA360748918FBN2n.1152G>A
c.1445G>A (p.Gly482Glu)
c.1346G>A (p.Gly449Glu)
c.1442G>A (p.Gly481Glu)
c.1292G>A (p.Gly431Glu)
 COSMIC COSMIC
5g.128393156C>ACA360748921FBN2n.1151G>T
c.1444G>T (p.Gly482Ter)
c.1345G>T (p.Gly449Ter)
c.1441G>T (p.Gly481Ter)
c.1291G>T (p.Gly431Ter)
5g.128393156C=CA1581293545FBN2n.1151G=
c.1444G= (p.Gly482=)
c.1345G= (p.Gly449=)
c.1441G= (p.Gly481=)
c.1291G= (p.Gly431=)
5g.128393156C>GCA360748925FBN2n.1151G>C
c.1444G>C (p.Gly482Arg)
c.1345G>C (p.Gly449Arg)
c.1441G>C (p.Gly481Arg)
c.1291G>C (p.Gly431Arg)
 dbSNP
5g.128393156C>TCA360748928FBN2n.1151G>A
c.1444G>A (p.Gly482Arg)
c.1345G>A (p.Gly449Arg)
c.1441G>A (p.Gly481Arg)
c.1291G>A (p.Gly431Arg)
5g.128393157C>ACA360748930FBN2n.1150G>T
c.1443G>T (p.Gln481His)
c.1344G>T (p.Gln448His)
c.1440G>T (p.Gln480His)
c.1290G>T (p.Gln430His)
5g.128393157C=CA1581293551FBN2n.1150G=
c.1443G= (p.Gln481=)
c.1344G= (p.Gln448=)
c.1440G= (p.Gln480=)
c.1290G= (p.Gln430=)
5g.128393157C>GCA127033703FBN2n.1150G>C
c.1443G>C (p.Gln481His)
c.1344G>C (p.Gln448His)
c.1440G>C (p.Gln480His)
c.1290G>C (p.Gln430His)
 ClinVar dbSNP gnomAD v4
5g.128393157C>TCA16611691FBN2n.1150G>A
c.1443G>A (p.Gln481=)
c.1344G>A (p.Gln448=)
c.1440G>A (p.Gln480=)
c.1290G>A (p.Gln430=)
 ClinVar dbSNP gnomAD v4
5g.128393158T>ACA360748934FBN2n.1149A>T
c.1442A>T (p.Gln481Leu)
c.1343A>T (p.Gln448Leu)
c.1439A>T (p.Gln480Leu)
c.1289A>T (p.Gln430Leu)
5g.128393158T>CCA360748938FBN2n.1149A>G
c.1442A>G (p.Gln481Arg)
c.1343A>G (p.Gln448Arg)
c.1439A>G (p.Gln480Arg)
c.1289A>G (p.Gln430Arg)
 dbSNP gnomAD v3 gnomAD v4
5g.128393158T>GCA360748936FBN2n.1149A>C
c.1442A>C (p.Gln481Pro)
c.1343A>C (p.Gln448Pro)
c.1439A>C (p.Gln480Pro)
c.1289A>C (p.Gln430Pro)
5g.128393158T=CA1581293554FBN2n.1149A=
c.1442A= (p.Gln481=)
c.1343A= (p.Gln448=)
c.1439A= (p.Gln480=)
c.1289A= (p.Gln430=)
5g.128393159G>ACA360748943FBN2n.1148C>T
c.1441C>T (p.Gln481Ter)
c.1342C>T (p.Gln448Ter)
c.1438C>T (p.Gln480Ter)
c.1288C>T (p.Gln430Ter)
5g.128393159G>CCA360748947FBN2n.1148C>G
c.1441C>G (p.Gln481Glu)
c.1342C>G (p.Gln448Glu)
c.1438C>G (p.Gln480Glu)
c.1288C>G (p.Gln430Glu)
 gnomAD v4
5g.128393159G=CA1581293556FBN2n.1148C=
c.1441C= (p.Gln481=)
c.1342C= (p.Gln448=)
c.1438C= (p.Gln480=)
c.1288C= (p.Gln430=)
5g.128393159G>TCA360748945FBN2n.1148C>A
c.1441C>A (p.Gln481Lys)
c.1342C>A (p.Gln448Lys)
c.1438C>A (p.Gln480Lys)
c.1288C>A (p.Gln430Lys)
 dbSNP gnomAD v2
5g.128393160T>ACA446305742FBN2n.1147A>T
c.1440A>T (p.Gly480=)
c.1341A>T (p.Gly447=)
c.1437A>T (p.Gly479=)
c.1287A>T (p.Gly429=)
5g.128393160T>CCA446305743FBN2n.1147A>G
c.1440A>G (p.Gly480=)
c.1341A>G (p.Gly447=)
c.1437A>G (p.Gly479=)
c.1287A>G (p.Gly429=)
 dbSNP gnomAD v2 gnomAD v4
5g.128393160T>GCA446305744FBN2n.1147A>C
c.1440A>C (p.Gly480=)
c.1341A>C (p.Gly447=)
c.1437A>C (p.Gly479=)
c.1287A>C (p.Gly429=)
5g.128393160T=CA1581293560FBN2n.1147A=
c.1440A= (p.Gly480=)
c.1341A= (p.Gly447=)
c.1437A= (p.Gly479=)
c.1287A= (p.Gly429=)
5g.128393161C>ACA360748950FBN2n.1146G>T
c.1439G>T (p.Gly480Val)
c.1340G>T (p.Gly447Val)
c.1436G>T (p.Gly479Val)
c.1286G>T (p.Gly429Val)
 COSMIC COSMIC
5g.128393161C>GCA360748954FBN2n.1146G>C
c.1439G>C (p.Gly480Ala)
c.1340G>C (p.Gly447Ala)
c.1436G>C (p.Gly479Ala)
c.1286G>C (p.Gly429Ala)
5g.128393161C>TCA360748952FBN2n.1146G>A
c.1439G>A (p.Gly480Glu)
c.1340G>A (p.Gly447Glu)
c.1436G>A (p.Gly479Glu)
c.1286G>A (p.Gly429Glu)
 ClinVar dbSNP
5g.128393165delCA2675120522FBN2n.1146del
c.1439del (p.Gly480AspfsTer9)
c.1340del (p.Gly447AspfsTer9)
c.1436del (p.Gly479AspfsTer9)
c.1286del (p.Gly429AspfsTer9)
 gnomAD v4
5g.128393162C>ACA360748958FBN2n.1145G>T
c.1438G>T (p.Gly480Ter)
c.1339G>T (p.Gly447Ter)
c.1435G>T (p.Gly479Ter)
c.1285G>T (p.Gly429Ter)
 COSMIC COSMIC
5g.128393162C=CA1581293562FBN2n.1145G=
c.1438G= (p.Gly480=)
c.1339G= (p.Gly447=)
c.1435G= (p.Gly479=)
c.1285G= (p.Gly429=)
5g.128393162C>GCA360748960FBN2n.1145G>C
c.1438G>C (p.Gly480Arg)
c.1339G>C (p.Gly447Arg)
c.1435G>C (p.Gly479Arg)
c.1285G>C (p.Gly429Arg)
 dbSNP
5g.128393162C>TCA360748963FBN2n.1145G>A
c.1438G>A (p.Gly480Arg)
c.1339G>A (p.Gly447Arg)
c.1435G>A (p.Gly479Arg)
c.1285G>A (p.Gly429Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128393163C>ACA446305747FBN2n.1144G>T
c.1437G>T (p.Gly479=)
c.1338G>T (p.Gly446=)
c.1434G>T (p.Gly478=)
c.1284G>T (p.Gly428=)
5g.128393163C=CA1581293566FBN2n.1144G=
c.1437G= (p.Gly479=)
c.1338G= (p.Gly446=)
c.1434G= (p.Gly478=)
c.1284G= (p.Gly428=)
5g.128393163C>GCA446305746FBN2n.1144G>C
c.1437G>C (p.Gly479=)
c.1338G>C (p.Gly446=)
c.1434G>C (p.Gly478=)
c.1284G>C (p.Gly428=)
 dbSNP
5g.128393163C>TCA446305745FBN2n.1144G>A
c.1437G>A (p.Gly479=)
c.1338G>A (p.Gly446=)
c.1434G>A (p.Gly478=)
c.1284G>A (p.Gly428=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128393164C>ACA360748966FBN2n.1143G>T
c.1436G>T (p.Gly479Val)
c.1337G>T (p.Gly446Val)
c.1433G>T (p.Gly478Val)
c.1283G>T (p.Gly428Val)
5g.128393164C>GCA360748968FBN2n.1143G>C
c.1436G>C (p.Gly479Ala)
c.1337G>C (p.Gly446Ala)
c.1433G>C (p.Gly478Ala)
c.1283G>C (p.Gly428Ala)
5g.128393164C>TCA360748971FBN2n.1143G>A
c.1436G>A (p.Gly479Glu)
c.1337G>A (p.Gly446Glu)
c.1433G>A (p.Gly478Glu)
c.1283G>A (p.Gly428Glu)
5g.128393165C>ACA360748974FBN2n.1142G>T
c.1435G>T (p.Gly479Trp)
c.1336G>T (p.Gly446Trp)
c.1432G>T (p.Gly478Trp)
c.1282G>T (p.Gly428Trp)
5g.128393165C=CA1581293571FBN2n.1142G=
c.1435G= (p.Gly479=)
c.1336G= (p.Gly446=)
c.1432G= (p.Gly478=)
c.1282G= (p.Gly428=)
5g.128393165C>GCA360748976FBN2n.1142G>C
c.1435G>C (p.Gly479Arg)
c.1336G>C (p.Gly446Arg)
c.1432G>C (p.Gly478Arg)
c.1282G>C (p.Gly428Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.128393165C>TCA323822FBN2n.1142G>A
c.1435G>A (p.Gly479Arg)
c.1336G>A (p.Gly446Arg)
c.1432G>A (p.Gly478Arg)
c.1282G>A (p.Gly428Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128393166G>ACA3395801FBN2n.1141C>T
c.1434C>T (p.Ala478=)
c.1335C>T (p.Ala445=)
c.1431C>T (p.Ala477=)
c.1281C>T (p.Ala427=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128393166G>CCA446305749FBN2n.1141C>G
c.1434C>G (p.Ala478=)
c.1335C>G (p.Ala445=)
c.1431C>G (p.Ala477=)
c.1281C>G (p.Ala427=)
 dbSNP gnomAD v3 gnomAD v4
5g.128393166G=CA1581293582FBN2n.1141C=
c.1434C= (p.Ala478=)
c.1335C= (p.Ala445=)
c.1431C= (p.Ala477=)
c.1281C= (p.Ala427=)
5g.128393166G>TCA446305748FBN2n.1141C>A
c.1434C>A (p.Ala478=)
c.1335C>A (p.Ala445=)
c.1431C>A (p.Ala477=)
c.1281C>A (p.Ala427=)
5g.128393167G>ACA360748982FBN2n.1140C>T
c.1433C>T (p.Ala478Val)
c.1334C>T (p.Ala445Val)
c.1430C>T (p.Ala477Val)
c.1280C>T (p.Ala427Val)
 gnomAD v4
5g.128393167G>CCA360748985FBN2n.1140C>G
c.1433C>G (p.Ala478Gly)
c.1334C>G (p.Ala445Gly)
c.1430C>G (p.Ala477Gly)
c.1280C>G (p.Ala427Gly)
5g.128393167G>TCA360748986FBN2n.1140C>A
c.1433C>A (p.Ala478Asp)
c.1334C>A (p.Ala445Asp)
c.1430C>A (p.Ala477Asp)
c.1280C>A (p.Ala427Asp)
5g.128393168C>ACA360748994FBN2n.1139G>T
c.1432G>T (p.Ala478Ser)
c.1333G>T (p.Ala445Ser)
c.1429G>T (p.Ala477Ser)
c.1279G>T (p.Ala427Ser)
5g.128393168C=CA1581293587FBN2n.1139G=
c.1432G= (p.Ala478=)
c.1333G= (p.Ala445=)
c.1429G= (p.Ala477=)
c.1279G= (p.Ala427=)
5g.128393168C>GCA360748992FBN2n.1139G>C
c.1432G>C (p.Ala478Pro)
c.1333G>C (p.Ala445Pro)
c.1429G>C (p.Ala477Pro)
c.1279G>C (p.Ala427Pro)
5g.128393168C>TCA360748989FBN2n.1139G>A
c.1432G>A (p.Ala478Thr)
c.1333G>A (p.Ala445Thr)
c.1429G>A (p.Ala477Thr)
c.1279G>A (p.Ala427Thr)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128393169C>ACA446305750FBN2n.1138G>T
c.1431G>T (p.Gly477=)
c.1332G>T (p.Gly444=)
c.1428G>T (p.Gly476=)
c.1278G>T (p.Gly426=)
5g.128393169C=CA1581293593FBN2n.1138G=
c.1431G= (p.Gly477=)
c.1332G= (p.Gly444=)
c.1428G= (p.Gly476=)
c.1278G= (p.Gly426=)
5g.128393169C>GCA446305751FBN2n.1138G>C
c.1431G>C (p.Gly477=)
c.1332G>C (p.Gly444=)
c.1428G>C (p.Gly476=)
c.1278G>C (p.Gly426=)
5g.128393169C>TCA3395802FBN2n.1138G>A
c.1431G>A (p.Gly477=)
c.1332G>A (p.Gly444=)
c.1428G>A (p.Gly476=)
c.1278G>A (p.Gly426=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128393170C>ACA360748998FBN2n.1137G>T
c.1430G>T (p.Gly477Val)
c.1331G>T (p.Gly444Val)
c.1427G>T (p.Gly476Val)
c.1277G>T (p.Gly426Val)
5g.128393170C>GCA360749000FBN2n.1137G>C
c.1430G>C (p.Gly477Ala)
c.1331G>C (p.Gly444Ala)
c.1427G>C (p.Gly476Ala)
c.1277G>C (p.Gly426Ala)
5g.128393170C>TCA360749003FBN2n.1137G>A
c.1430G>A (p.Gly477Glu)
c.1331G>A (p.Gly444Glu)
c.1427G>A (p.Gly476Glu)
c.1277G>A (p.Gly426Glu)
5g.128393171C>ACA360749005FBN2n.1136G>T
c.1429G>T (p.Gly477Trp)
c.1330G>T (p.Gly444Trp)
c.1426G>T (p.Gly476Trp)
c.1276G>T (p.Gly426Trp)
5g.128393171C>GCA360749007FBN2n.1136G>C
c.1429G>C (p.Gly477Arg)
c.1330G>C (p.Gly444Arg)
c.1426G>C (p.Gly476Arg)
c.1276G>C (p.Gly426Arg)
5g.128393171C>TCA360749010FBN2n.1136G>A
c.1429G>A (p.Gly477Arg)
c.1330G>A (p.Gly444Arg)
c.1426G>A (p.Gly476Arg)
c.1276G>A (p.Gly426Arg)
5g.128393172C>ACA446305752FBN2n.1135G>T
c.1428G>T (p.Val476=)
c.1329G>T (p.Val443=)
c.1425G>T (p.Val475=)
c.1275G>T (p.Val425=)
 dbSNP gnomAD v4
5g.128393172C=CA1581293596FBN2n.1135G=
c.1428G= (p.Val476=)
c.1329G= (p.Val443=)
c.1425G= (p.Val475=)
c.1275G= (p.Val425=)
5g.128393172C>GCA446305753FBN2n.1135G>C
c.1428G>C (p.Val476=)
c.1329G>C (p.Val443=)
c.1425G>C (p.Val475=)
c.1275G>C (p.Val425=)
5g.128393172C>TCA446305754FBN2n.1135G>A
c.1428G>A (p.Val476=)
c.1329G>A (p.Val443=)
c.1425G>A (p.Val475=)
c.1275G>A (p.Val425=)
 gnomAD v4
5g.128393173A=CA1581293598FBN2n.1134T=
c.1427T= (p.Val476=)
c.1328T= (p.Val443=)
c.1424T= (p.Val475=)
c.1274T= (p.Val425=)
5g.128393173A>CCA360749013FBN2n.1134T>G
c.1427T>G (p.Val476Gly)
c.1328T>G (p.Val443Gly)
c.1424T>G (p.Val475Gly)
c.1274T>G (p.Val425Gly)
 dbSNP
5g.128393173A>GCA360749015FBN2n.1134T>C
c.1427T>C (p.Val476Ala)
c.1328T>C (p.Val443Ala)
c.1424T>C (p.Val475Ala)
c.1274T>C (p.Val425Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128393173A>TCA360749017FBN2n.1134T>A
c.1427T>A (p.Val476Glu)
c.1328T>A (p.Val443Glu)
c.1424T>A (p.Val475Glu)
c.1274T>A (p.Val425Glu)
5g.128393174C>ACA360749020FBN2n.1133G>T
c.1426G>T (p.Val476Leu)
c.1327G>T (p.Val443Leu)
c.1423G>T (p.Val475Leu)
c.1273G>T (p.Val425Leu)
5g.128393174C>GCA360749022FBN2n.1133G>C
c.1426G>C (p.Val476Leu)
c.1327G>C (p.Val443Leu)
c.1423G>C (p.Val475Leu)
c.1273G>C (p.Val425Leu)
5g.128393174C>TCA360749024FBN2n.1133G>A
c.1426G>A (p.Val476Met)
c.1327G>A (p.Val443Met)
c.1423G>A (p.Val475Met)
c.1273G>A (p.Val425Met)
 gnomAD v4
5g.128393175A>CCA446305755FBN2n.1132T>G
c.1425T>G (p.Gly475=)
c.1326T>G (p.Gly442=)
c.1422T>G (p.Gly474=)
c.1272T>G (p.Gly424=)
 dbSNP
5g.128393175A>GCA446305756FBN2n.1132T>C
c.1425T>C (p.Gly475=)
c.1326T>C (p.Gly442=)
c.1422T>C (p.Gly474=)
c.1272T>C (p.Gly424=)
5g.128393175A>TCA446305757FBN2n.1132T>A
c.1425T>A (p.Gly475=)
c.1326T>A (p.Gly442=)
c.1422T>A (p.Gly474=)
c.1272T>A (p.Gly424=)
5g.128393176C>ACA3395803FBN2n.1131G>T
c.1424G>T (p.Gly475Val)
c.1325G>T (p.Gly442Val)
c.1421G>T (p.Gly474Val)
c.1271G>T (p.Gly424Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128393176C=CA1581293601FBN2n.1131G=
c.1424G= (p.Gly475=)
c.1325G= (p.Gly442=)
c.1421G= (p.Gly474=)
c.1271G= (p.Gly424=)
5g.128393176C>GCA360749029FBN2n.1131G>C
c.1424G>C (p.Gly475Ala)
c.1325G>C (p.Gly442Ala)
c.1421G>C (p.Gly474Ala)
c.1271G>C (p.Gly424Ala)
5g.128393176C>TCA360749027FBN2n.1131G>A
c.1424G>A (p.Gly475Asp)
c.1325G>A (p.Gly442Asp)
c.1421G>A (p.Gly474Asp)
c.1271G>A (p.Gly424Asp)
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=)
 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)

Number of alleles fetched