Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.128335251G>A | CA360757470 | FBN2 | n.676C>T n.757C>T c.3892C>T (p.Gln1298Ter) c.442C>T (p.Gln148Ter) c.3793C>T (p.Gln1265Ter) c.3889C>T (p.Gln1297Ter) c.3739C>T (p.Gln1247Ter) | gnomAD v4 |
5 | g.128335251G>C | CA360757469 | FBN2 | n.676C>G n.757C>G c.3892C>G (p.Gln1298Glu) c.442C>G (p.Gln148Glu) c.3793C>G (p.Gln1265Glu) c.3889C>G (p.Gln1297Glu) c.3739C>G (p.Gln1247Glu) | |
5 | g.128335251G>T | CA360757468 | FBN2 | n.676C>A n.757C>A c.3892C>A (p.Gln1298Lys) c.442C>A (p.Gln148Lys) c.3793C>A (p.Gln1265Lys) c.3889C>A (p.Gln1297Lys) c.3739C>A (p.Gln1247Lys) | |
5 | g.128335252G>A | CA446310080 | FBN2 | n.675C>T n.756C>T c.3891C>T (p.Gly1297=) c.441C>T (p.Gly147=) c.3792C>T (p.Gly1264=) c.3888C>T (p.Gly1296=) c.3738C>T (p.Gly1246=) | |
5 | g.128335252G>C | CA446310081 | FBN2 | n.675C>G n.756C>G c.3891C>G (p.Gly1297=) c.441C>G (p.Gly147=) c.3792C>G (p.Gly1264=) c.3888C>G (p.Gly1296=) c.3738C>G (p.Gly1246=) | |
5 | g.128335252G= | CA1581269495 | FBN2 | n.675C= n.756C= c.3891C= (p.Gly1297=) c.441C= (p.Gly147=) c.3792C= (p.Gly1264=) c.3888C= (p.Gly1296=) c.3738C= (p.Gly1246=) | |
5 | g.128335252G>T | CA446310082 | FBN2 | n.675C>A n.756C>A c.3891C>A (p.Gly1297=) c.441C>A (p.Gly147=) c.3792C>A (p.Gly1264=) c.3888C>A (p.Gly1296=) c.3738C>A (p.Gly1246=) | dbSNP gnomAD v4 |
5 | g.128335253C>A | CA360757471 | FBN2 | n.674G>T n.755G>T c.3890G>T (p.Gly1297Val) c.440G>T (p.Gly147Val) c.3791G>T (p.Gly1264Val) c.3887G>T (p.Gly1296Val) c.3737G>T (p.Gly1246Val) | |
5 | g.128335253C= | CA1581269496 | FBN2 | n.674G= n.755G= c.3890G= (p.Gly1297=) c.440G= (p.Gly147=) c.3791G= (p.Gly1264=) c.3887G= (p.Gly1296=) c.3737G= (p.Gly1246=) | |
5 | g.128335253C>G | CA360757472 | FBN2 | n.674G>C n.755G>C c.3890G>C (p.Gly1297Ala) c.440G>C (p.Gly147Ala) c.3791G>C (p.Gly1264Ala) c.3887G>C (p.Gly1296Ala) c.3737G>C (p.Gly1246Ala) | |
5 | g.128335253C>T | CA127008453 | FBN2 | n.674G>A n.755G>A c.3890G>A (p.Gly1297Asp) c.440G>A (p.Gly147Asp) c.3791G>A (p.Gly1264Asp) c.3887G>A (p.Gly1296Asp) c.3737G>A (p.Gly1246Asp) | ClinVar dbSNP |
5 | g.128335254C>A | CA360757473 | FBN2 | n.673G>T n.754G>T c.3889G>T (p.Gly1297Cys) c.439G>T (p.Gly147Cys) c.3790G>T (p.Gly1264Cys) c.3886G>T (p.Gly1296Cys) c.3736G>T (p.Gly1246Cys) | ClinVar dbSNP |
5 | g.128335254C= | CA1581269497 | FBN2 | n.673G= n.754G= c.3889G= (p.Gly1297=) c.439G= (p.Gly147=) c.3790G= (p.Gly1264=) c.3886G= (p.Gly1296=) c.3736G= (p.Gly1246=) | |
5 | g.128335254C>G | CA360757474 | FBN2 | n.673G>C n.754G>C c.3889G>C (p.Gly1297Arg) c.439G>C (p.Gly147Arg) c.3790G>C (p.Gly1264Arg) c.3886G>C (p.Gly1296Arg) c.3736G>C (p.Gly1246Arg) | |
5 | g.128335254C>T | CA3395105 | FBN2 | n.673G>A n.754G>A c.3889G>A (p.Gly1297Ser) c.439G>A (p.Gly147Ser) c.3790G>A (p.Gly1264Ser) c.3886G>A (p.Gly1296Ser) c.3736G>A (p.Gly1246Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.128335255G>A | CA3395106 | FBN2 | n.672C>T n.753C>T c.3888C>T (p.Gly1296=) c.438C>T (p.Gly146=) c.3789C>T (p.Gly1263=) c.3885C>T (p.Gly1295=) c.3735C>T (p.Gly1245=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
5 | g.128335255G>C | CA446310083 | FBN2 | n.672C>G n.753C>G c.3888C>G (p.Gly1296=) c.438C>G (p.Gly146=) c.3789C>G (p.Gly1263=) c.3885C>G (p.Gly1295=) c.3735C>G (p.Gly1245=) | |
5 | g.128335255G= | CA1581269498 | FBN2 | n.672C= n.753C= c.3888C= (p.Gly1296=) c.438C= (p.Gly146=) c.3789C= (p.Gly1263=) c.3885C= (p.Gly1295=) c.3735C= (p.Gly1245=) | |
5 | g.128335255G>T | CA446310084 | FBN2 | n.672C>A n.753C>A c.3888C>A (p.Gly1296=) c.438C>A (p.Gly146=) c.3789C>A (p.Gly1263=) c.3885C>A (p.Gly1295=) c.3735C>A (p.Gly1245=) | dbSNP |
5 | g.128335256C>A | CA360757475 | FBN2 | n.671G>T n.752G>T c.3887G>T (p.Gly1296Val) c.437G>T (p.Gly146Val) c.3788G>T (p.Gly1263Val) c.3884G>T (p.Gly1295Val) c.3734G>T (p.Gly1245Val) | |
5 | g.128335256C>G | CA360757476 | FBN2 | n.671G>C n.752G>C c.3887G>C (p.Gly1296Ala) c.437G>C (p.Gly146Ala) c.3788G>C (p.Gly1263Ala) c.3884G>C (p.Gly1295Ala) c.3734G>C (p.Gly1245Ala) | |
5 | g.128335256C>T | CA360757477 | FBN2 | n.671G>A n.752G>A c.3887G>A (p.Gly1296Asp) c.437G>A (p.Gly146Asp) c.3788G>A (p.Gly1263Asp) c.3884G>A (p.Gly1295Asp) c.3734G>A (p.Gly1245Asp) | |
5 | g.128335257C>A | CA360757478 | FBN2 | n.670G>T n.751G>T c.3886G>T (p.Gly1296Cys) c.436G>T (p.Gly146Cys) c.3787G>T (p.Gly1263Cys) c.3883G>T (p.Gly1295Cys) c.3733G>T (p.Gly1245Cys) | |
5 | g.128335257C>G | CA360757479 | FBN2 | n.670G>C n.751G>C c.3886G>C (p.Gly1296Arg) c.436G>C (p.Gly146Arg) c.3787G>C (p.Gly1263Arg) c.3883G>C (p.Gly1295Arg) c.3733G>C (p.Gly1245Arg) | |
5 | g.128335257C>T | CA360757480 | FBN2 | n.670G>A n.751G>A c.3886G>A (p.Gly1296Ser) c.436G>A (p.Gly146Ser) c.3787G>A (p.Gly1263Ser) c.3883G>A (p.Gly1295Ser) c.3733G>A (p.Gly1245Ser) | gnomAD v4 |
5 | g.128335258A= | CA1581269499 | FBN2 | n.669T= n.750T= c.3885T= (p.Asp1295=) c.435T= (p.Asp145=) c.3786T= (p.Asp1262=) c.3882T= (p.Asp1294=) c.3732T= (p.Asp1244=) | |
5 | g.128335258A>C | CA360757481 | FBN2 | n.669T>G n.750T>G c.3885T>G (p.Asp1295Glu) c.435T>G (p.Asp145Glu) c.3786T>G (p.Asp1262Glu) c.3882T>G (p.Asp1294Glu) c.3732T>G (p.Asp1244Glu) | |
5 | g.128335258A>G | CA446310085 | FBN2 | n.669T>C n.750T>C c.3885T>C (p.Asp1295=) c.435T>C (p.Asp145=) c.3786T>C (p.Asp1262=) c.3882T>C (p.Asp1294=) c.3732T>C (p.Asp1244=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.128335258A>T | CA360757482 | FBN2 | n.669T>A n.750T>A c.3885T>A (p.Asp1295Glu) c.435T>A (p.Asp145Glu) c.3786T>A (p.Asp1262Glu) c.3882T>A (p.Asp1294Glu) c.3732T>A (p.Asp1244Glu) | |
5 | g.128335259T>A | CA360757483 | FBN2 | n.668A>T n.749A>T c.3884A>T (p.Asp1295Val) c.434A>T (p.Asp145Val) c.3785A>T (p.Asp1262Val) c.3881A>T (p.Asp1294Val) c.3731A>T (p.Asp1244Val) | |
5 | g.128335259T>C | CA10587611 | FBN2 | n.668A>G n.749A>G c.3884A>G (p.Asp1295Gly) c.434A>G (p.Asp145Gly) c.3785A>G (p.Asp1262Gly) c.3881A>G (p.Asp1294Gly) c.3731A>G (p.Asp1244Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.128335259T>G | CA360757484 | FBN2 | n.668A>C n.749A>C c.3884A>C (p.Asp1295Ala) c.434A>C (p.Asp145Ala) c.3785A>C (p.Asp1262Ala) c.3881A>C (p.Asp1294Ala) c.3731A>C (p.Asp1244Ala) | |
5 | g.128335259T= | CA1581269500 | FBN2 | n.668A= n.749A= c.3884A= (p.Asp1295=) c.434A= (p.Asp145=) c.3785A= (p.Asp1262=) c.3881A= (p.Asp1294=) c.3731A= (p.Asp1244=) | |
5 | g.128335260C>A | CA360757485 | FBN2 | n.667G>T n.748G>T c.3883G>T (p.Asp1295Tyr) c.433G>T (p.Asp145Tyr) c.3784G>T (p.Asp1262Tyr) c.3880G>T (p.Asp1294Tyr) c.3730G>T (p.Asp1244Tyr) | |
5 | g.128335260C= | CA1581269501 | FBN2 | n.667G= n.748G= c.3883G= (p.Asp1295=) c.433G= (p.Asp145=) c.3784G= (p.Asp1262=) c.3880G= (p.Asp1294=) c.3730G= (p.Asp1244=) | |
5 | g.128335260C>G | CA360757486 | FBN2 | n.667G>C n.748G>C c.3883G>C (p.Asp1295His) c.433G>C (p.Asp145His) c.3784G>C (p.Asp1262His) c.3880G>C (p.Asp1294His) c.3730G>C (p.Asp1244His) | |
5 | g.128335260C>T | CA324462 | FBN2 | n.667G>A n.748G>A c.3883G>A (p.Asp1295Asn) c.433G>A (p.Asp145Asn) c.3784G>A (p.Asp1262Asn) c.3880G>A (p.Asp1294Asn) c.3730G>A (p.Asp1244Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128335261A>C | CA360757487 | FBN2 | n.666T>G n.747T>G c.3882T>G (p.Cys1294Trp) c.432T>G (p.Cys144Trp) c.3783T>G (p.Cys1261Trp) c.3879T>G (p.Cys1293Trp) c.3729T>G (p.Cys1243Trp) | |
5 | g.128335261A>G | CA446310086 | FBN2 | n.666T>C n.747T>C c.3882T>C (p.Cys1294=) c.432T>C (p.Cys144=) c.3783T>C (p.Cys1261=) c.3879T>C (p.Cys1293=) c.3729T>C (p.Cys1243=) | |
5 | g.128335261A>T | CA360757488 | FBN2 | n.666T>A n.747T>A c.3882T>A (p.Cys1294Ter) c.432T>A (p.Cys144Ter) c.3783T>A (p.Cys1261Ter) c.3879T>A (p.Cys1293Ter) c.3729T>A (p.Cys1243Ter) | |
5 | g.128335262C>A | CA360757489 | FBN2 | n.665G>T n.746G>T c.3881G>T (p.Cys1294Phe) c.431G>T (p.Cys144Phe) c.3782G>T (p.Cys1261Phe) c.3878G>T (p.Cys1293Phe) c.3728G>T (p.Cys1243Phe) | |
5 | g.128335262C= | CA1581269502 | FBN2 | n.665G= n.746G= c.3881G= (p.Cys1294=) c.431G= (p.Cys144=) c.3782G= (p.Cys1261=) c.3878G= (p.Cys1293=) c.3728G= (p.Cys1243=) | |
5 | g.128335262C>G | CA360757490 | FBN2 | n.665G>C n.746G>C c.3881G>C (p.Cys1294Ser) c.431G>C (p.Cys144Ser) c.3782G>C (p.Cys1261Ser) c.3878G>C (p.Cys1293Ser) c.3728G>C (p.Cys1243Ser) | dbSNP gnomAD v4 |
5 | g.128335262C>T | CA360757491 | FBN2 | n.665G>A n.746G>A c.3881G>A (p.Cys1294Tyr) c.431G>A (p.Cys144Tyr) c.3782G>A (p.Cys1261Tyr) c.3878G>A (p.Cys1293Tyr) c.3728G>A (p.Cys1243Tyr) | |
5 | g.128335263A= | CA1581269503 | FBN2 | n.664T= n.745T= c.3880T= (p.Cys1294=) c.430T= (p.Cys144=) c.3781T= (p.Cys1261=) c.3877T= (p.Cys1293=) c.3727T= (p.Cys1243=) | |
5 | g.128335263A>C | CA360757492 | FBN2 | n.664T>G n.745T>G c.3880T>G (p.Cys1294Gly) c.430T>G (p.Cys144Gly) c.3781T>G (p.Cys1261Gly) c.3877T>G (p.Cys1293Gly) c.3727T>G (p.Cys1243Gly) | |
5 | g.128335263A>G | CA3395107 | FBN2 | n.664T>C n.745T>C c.3880T>C (p.Cys1294Arg) c.430T>C (p.Cys144Arg) c.3781T>C (p.Cys1261Arg) c.3877T>C (p.Cys1293Arg) c.3727T>C (p.Cys1243Arg) | dbSNP ExAC gnomAD v4 |
5 | g.128335263A>T | CA360757493 | FBN2 | n.664T>A n.745T>A c.3880T>A (p.Cys1294Ser) c.430T>A (p.Cys144Ser) c.3781T>A (p.Cys1261Ser) c.3877T>A (p.Cys1293Ser) c.3727T>A (p.Cys1243Ser) | |
5 | g.128335264G>A | CA446310087 | FBN2 | n.663C>T n.744C>T c.3879C>T (p.Ile1293=) c.429C>T (p.Ile143=) c.3780C>T (p.Ile1260=) c.3876C>T (p.Ile1292=) c.3726C>T (p.Ile1242=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128335264G>C | CA360757494 | FBN2 | n.663C>G n.744C>G c.3879C>G (p.Ile1293Met) c.429C>G (p.Ile143Met) c.3780C>G (p.Ile1260Met) c.3876C>G (p.Ile1292Met) c.3726C>G (p.Ile1242Met) | |
5 | g.128335264G= | CA1581269504 | FBN2 | n.663C= n.744C= c.3879C= (p.Ile1293=) c.429C= (p.Ile143=) c.3780C= (p.Ile1260=) c.3876C= (p.Ile1292=) c.3726C= (p.Ile1242=) | |
5 | g.128335264G>T | CA446310088 | FBN2 | n.663C>A n.744C>A c.3879C>A (p.Ile1293=) c.429C>A (p.Ile143=) c.3780C>A (p.Ile1260=) c.3876C>A (p.Ile1292=) c.3726C>A (p.Ile1242=) | |
5 | g.128335265A= | CA1581269505 | FBN2 | n.662T= n.743T= c.3878T= (p.Ile1293=) c.428T= (p.Ile143=) c.3779T= (p.Ile1260=) c.3875T= (p.Ile1292=) c.3725T= (p.Ile1242=) | |
5 | g.128335265A>C | CA360757496 | FBN2 | n.662T>G n.743T>G c.3878T>G (p.Ile1293Ser) c.428T>G (p.Ile143Ser) c.3779T>G (p.Ile1260Ser) c.3875T>G (p.Ile1292Ser) c.3725T>G (p.Ile1242Ser) | |
5 | g.128335265A>G | CA360757497 | FBN2 | n.662T>C n.743T>C c.3878T>C (p.Ile1293Thr) c.428T>C (p.Ile143Thr) c.3779T>C (p.Ile1260Thr) c.3875T>C (p.Ile1292Thr) c.3725T>C (p.Ile1242Thr) | ClinVar dbSNP gnomAD v4 |
5 | g.128335265A>T | CA360757495 | FBN2 | n.662T>A n.743T>A c.3878T>A (p.Ile1293Asn) c.428T>A (p.Ile143Asn) c.3779T>A (p.Ile1260Asn) c.3875T>A (p.Ile1292Asn) c.3725T>A (p.Ile1242Asn) | |
5 | g.128335266T>A | CA360757498 | FBN2 | n.661A>T n.742A>T c.3877A>T (p.Ile1293Phe) c.427A>T (p.Ile143Phe) c.3778A>T (p.Ile1260Phe) c.3874A>T (p.Ile1292Phe) c.3724A>T (p.Ile1242Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128335266T>C | CA360757499 | FBN2 | n.661A>G n.742A>G c.3877A>G (p.Ile1293Val) c.427A>G (p.Ile143Val) c.3778A>G (p.Ile1260Val) c.3874A>G (p.Ile1292Val) c.3724A>G (p.Ile1242Val) | |
5 | g.128335266T>G | CA360757500 | FBN2 | n.661A>C n.742A>C c.3877A>C (p.Ile1293Leu) c.427A>C (p.Ile143Leu) c.3778A>C (p.Ile1260Leu) c.3874A>C (p.Ile1292Leu) c.3724A>C (p.Ile1242Leu) | |
5 | g.128335266T= | CA1581269506 | FBN2 | n.661A= n.742A= c.3877A= (p.Ile1293=) c.427A= (p.Ile143=) c.3778A= (p.Ile1260=) c.3874A= (p.Ile1292=) c.3724A= (p.Ile1242=) | |
5 | g.128335267A>C | CA360757501 | FBN2 | n.660T>G n.741T>G c.3876T>G (p.Asp1292Glu) c.426T>G (p.Asp142Glu) c.3777T>G (p.Asp1259Glu) c.3873T>G (p.Asp1291Glu) c.3723T>G (p.Asp1241Glu) | |
5 | g.128335267A>G | CA446310089 | FBN2 | n.660T>C n.741T>C c.3876T>C (p.Asp1292=) c.426T>C (p.Asp142=) c.3777T>C (p.Asp1259=) c.3873T>C (p.Asp1291=) c.3723T>C (p.Asp1241=) | |
5 | g.128335267A>T | CA360757502 | FBN2 | n.660T>A n.741T>A c.3876T>A (p.Asp1292Glu) c.426T>A (p.Asp142Glu) c.3777T>A (p.Asp1259Glu) c.3873T>A (p.Asp1291Glu) c.3723T>A (p.Asp1241Glu) | |
5 | g.128335268T>A | CA360757503 | FBN2 | n.659A>T n.740A>T c.3875A>T (p.Asp1292Val) c.425A>T (p.Asp142Val) c.3776A>T (p.Asp1259Val) c.3872A>T (p.Asp1291Val) c.3722A>T (p.Asp1241Val) | |
5 | g.128335268T>C | CA360757505 | FBN2 | n.659A>G n.740A>G c.3875A>G (p.Asp1292Gly) c.425A>G (p.Asp142Gly) c.3776A>G (p.Asp1259Gly) c.3872A>G (p.Asp1291Gly) c.3722A>G (p.Asp1241Gly) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128335268T>G | CA360757507 | FBN2 | n.659A>C n.740A>C c.3875A>C (p.Asp1292Ala) c.425A>C (p.Asp142Ala) c.3776A>C (p.Asp1259Ala) c.3872A>C (p.Asp1291Ala) c.3722A>C (p.Asp1241Ala) | |
5 | g.128335268T= | CA1581269507 | FBN2 | n.659A= n.740A= c.3875A= (p.Asp1292=) c.425A= (p.Asp142=) c.3776A= (p.Asp1259=) c.3872A= (p.Asp1291=) c.3722A= (p.Asp1241=) | |
5 | g.128335269C>A | CA360757509 | FBN2 | n.658G>T n.739G>T c.3874G>T (p.Asp1292Tyr) c.424G>T (p.Asp142Tyr) c.3775G>T (p.Asp1259Tyr) c.3871G>T (p.Asp1291Tyr) c.3721G>T (p.Asp1241Tyr) | ClinVar dbSNP |
5 | g.128335269C= | CA1581269508 | FBN2 | n.658G= n.739G= c.3874G= (p.Asp1292=) c.424G= (p.Asp142=) c.3775G= (p.Asp1259=) c.3871G= (p.Asp1291=) c.3721G= (p.Asp1241=) | |
5 | g.128335269C>G | CA360757511 | FBN2 | n.658G>C n.739G>C c.3874G>C (p.Asp1292His) c.424G>C (p.Asp142His) c.3775G>C (p.Asp1259His) c.3871G>C (p.Asp1291His) c.3721G>C (p.Asp1241His) | |
5 | g.128335269C>T | CA360757513 | FBN2 | n.658G>A n.739G>A c.3874G>A (p.Asp1292Asn) c.424G>A (p.Asp142Asn) c.3775G>A (p.Asp1259Asn) c.3871G>A (p.Asp1291Asn) c.3721G>A (p.Asp1241Asn) | |
5 | g.128335270A= | CA1581269509 | FBN2 | n.657T= n.738T= c.3873T= (p.Pro1291=) c.423T= (p.Pro141=) c.3774T= (p.Pro1258=) c.3870T= (p.Pro1290=) c.3720T= (p.Pro1240=) | |
5 | g.128335270A>C | CA3395108 | FBN2 | n.657T>G n.738T>G c.3873T>G (p.Pro1291=) c.423T>G (p.Pro141=) c.3774T>G (p.Pro1258=) c.3870T>G (p.Pro1290=) c.3720T>G (p.Pro1240=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128335270A>G | CA446310091 | FBN2 | n.657T>C n.738T>C c.3873T>C (p.Pro1291=) c.423T>C (p.Pro141=) c.3774T>C (p.Pro1258=) c.3870T>C (p.Pro1290=) c.3720T>C (p.Pro1240=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128335270A>T | CA446310092 | FBN2 | n.657T>A n.738T>A c.3873T>A (p.Pro1291=) c.423T>A (p.Pro141=) c.3774T>A (p.Pro1258=) c.3870T>A (p.Pro1290=) c.3720T>A (p.Pro1240=) | |
5 | g.128335271G>A | CA360757518 | FBN2 | n.656C>T n.737C>T c.3872C>T (p.Pro1291Leu) c.422C>T (p.Pro141Leu) c.3773C>T (p.Pro1258Leu) c.3869C>T (p.Pro1290Leu) c.3719C>T (p.Pro1240Leu) | |
5 | g.128335271G>C | CA360757519 | FBN2 | n.656C>G n.737C>G c.3872C>G (p.Pro1291Arg) c.422C>G (p.Pro141Arg) c.3773C>G (p.Pro1258Arg) c.3869C>G (p.Pro1290Arg) c.3719C>G (p.Pro1240Arg) | dbSNP |
5 | g.128335271G= | CA1581269510 | FBN2 | n.656C= n.737C= c.3872C= (p.Pro1291=) c.422C= (p.Pro141=) c.3773C= (p.Pro1258=) c.3869C= (p.Pro1290=) c.3719C= (p.Pro1240=) | |
5 | g.128335271G>T | CA360757517 | FBN2 | n.656C>A n.737C>A c.3872C>A (p.Pro1291His) c.422C>A (p.Pro141His) c.3773C>A (p.Pro1258His) c.3869C>A (p.Pro1290His) c.3719C>A (p.Pro1240His) | |
5 | g.128335272G>A | CA360757520 | FBN2 | n.655C>T n.736C>T c.3871C>T (p.Pro1291Ser) c.421C>T (p.Pro141Ser) c.3772C>T (p.Pro1258Ser) c.3868C>T (p.Pro1290Ser) c.3718C>T (p.Pro1240Ser) | COSMIC COSMIC |
5 | g.128335272G>C | CA360757521 | FBN2 | n.655C>G n.736C>G c.3871C>G (p.Pro1291Ala) c.421C>G (p.Pro141Ala) c.3772C>G (p.Pro1258Ala) c.3868C>G (p.Pro1290Ala) c.3718C>G (p.Pro1240Ala) | dbSNP |
5 | g.128335272G= | CA1581269511 | FBN2 | n.655C= n.736C= c.3871C= (p.Pro1291=) c.421C= (p.Pro141=) c.3772C= (p.Pro1258=) c.3868C= (p.Pro1290=) c.3718C= (p.Pro1240=) | |
5 | g.128335272G>T | CA360757523 | FBN2 | n.655C>A n.736C>A c.3871C>A (p.Pro1291Thr) c.421C>A (p.Pro141Thr) c.3772C>A (p.Pro1258Thr) c.3868C>A (p.Pro1290Thr) c.3718C>A (p.Pro1240Thr) | ClinVar |
5 | g.128335273A= | CA1581269512 | FBN2 | n.654T= n.735T= c.3870T= (p.Asn1290=) c.420T= (p.Asn140=) c.3771T= (p.Asn1257=) c.3867T= (p.Asn1289=) c.3717T= (p.Asn1239=) | |
5 | g.128335273A>C | CA360757526 | FBN2 | n.654T>G n.735T>G c.3870T>G (p.Asn1290Lys) c.420T>G (p.Asn140Lys) c.3771T>G (p.Asn1257Lys) c.3867T>G (p.Asn1289Lys) c.3717T>G (p.Asn1239Lys) | |
5 | g.128335273A>G | CA446310093 | FBN2 | n.654T>C n.735T>C c.3870T>C (p.Asn1290=) c.420T>C (p.Asn140=) c.3771T>C (p.Asn1257=) c.3867T>C (p.Asn1289=) c.3717T>C (p.Asn1239=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.128335273A>T | CA360757527 | FBN2 | n.654T>A n.735T>A c.3870T>A (p.Asn1290Lys) c.420T>A (p.Asn140Lys) c.3771T>A (p.Asn1257Lys) c.3867T>A (p.Asn1289Lys) c.3717T>A (p.Asn1239Lys) | |
5 | g.128335274T>A | CA360757532 | FBN2 | n.653A>T n.734A>T c.3869A>T (p.Asn1290Ile) c.419A>T (p.Asn140Ile) c.3770A>T (p.Asn1257Ile) c.3866A>T (p.Asn1289Ile) c.3716A>T (p.Asn1239Ile) | |
5 | g.128335274T>C | CA3395109 | FBN2 | n.653A>G n.734A>G c.3869A>G (p.Asn1290Ser) c.419A>G (p.Asn140Ser) c.3770A>G (p.Asn1257Ser) c.3866A>G (p.Asn1289Ser) c.3716A>G (p.Asn1239Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128335274T>G | CA360757530 | FBN2 | n.653A>C n.734A>C c.3869A>C (p.Asn1290Thr) c.419A>C (p.Asn140Thr) c.3770A>C (p.Asn1257Thr) c.3866A>C (p.Asn1289Thr) c.3716A>C (p.Asn1239Thr) | |
5 | g.128335274T= | CA1581269513 | FBN2 | n.653A= n.734A= c.3869A= (p.Asn1290=) c.419A= (p.Asn140=) c.3770A= (p.Asn1257=) c.3866A= (p.Asn1289=) c.3716A= (p.Asn1239=) | |
5 | g.128335275T>A | CA360757535 | FBN2 | n.652A>T n.733A>T c.3868A>T (p.Asn1290Tyr) c.418A>T (p.Asn140Tyr) c.3769A>T (p.Asn1257Tyr) c.3865A>T (p.Asn1289Tyr) c.3715A>T (p.Asn1239Tyr) | |
5 | g.128335275T>C | CA360757536 | FBN2 | n.652A>G n.733A>G c.3868A>G (p.Asn1290Asp) c.418A>G (p.Asn140Asp) c.3769A>G (p.Asn1257Asp) c.3865A>G (p.Asn1289Asp) c.3715A>G (p.Asn1239Asp) | |
5 | g.128335275T>G | CA360757537 | FBN2 | n.652A>C n.733A>C c.3868A>C (p.Asn1290His) c.418A>C (p.Asn140His) c.3769A>C (p.Asn1257His) c.3865A>C (p.Asn1289His) c.3715A>C (p.Asn1239His) | |
5 | g.128335276G>A | CA446310094 | FBN2 | n.651C>T n.732C>T c.3867C>T (p.Asn1289=) c.417C>T (p.Asn139=) c.3768C>T (p.Asn1256=) c.3864C>T (p.Asn1288=) c.3714C>T (p.Asn1238=) | COSMIC COSMIC |
5 | g.128335276G>C | CA360757540 | FBN2 | n.651C>G n.732C>G c.3867C>G (p.Asn1289Lys) c.417C>G (p.Asn139Lys) c.3768C>G (p.Asn1256Lys) c.3864C>G (p.Asn1288Lys) c.3714C>G (p.Asn1238Lys) | |
5 | g.128335276G>T | CA360757542 | FBN2 | n.651C>A n.732C>A c.3867C>A (p.Asn1289Lys) c.417C>A (p.Asn139Lys) c.3768C>A (p.Asn1256Lys) c.3864C>A (p.Asn1288Lys) c.3714C>A (p.Asn1238Lys) | |
5 | g.128335277T>A | CA360757548 | FBN2 | n.650A>T n.731A>T c.3866A>T (p.Asn1289Ile) c.416A>T (p.Asn139Ile) c.3767A>T (p.Asn1256Ile) c.3863A>T (p.Asn1288Ile) c.3713A>T (p.Asn1238Ile) | |
5 | g.128335277T>C | CA360757546 | FBN2 | n.650A>G n.731A>G c.3866A>G (p.Asn1289Ser) c.416A>G (p.Asn139Ser) c.3767A>G (p.Asn1256Ser) c.3863A>G (p.Asn1288Ser) c.3713A>G (p.Asn1238Ser) | ClinVar dbSNP gnomAD v2 |
5 | g.128335277T>G | CA360757544 | FBN2 | n.650A>C n.731A>C c.3866A>C (p.Asn1289Thr) c.416A>C (p.Asn139Thr) c.3767A>C (p.Asn1256Thr) c.3863A>C (p.Asn1288Thr) c.3713A>C (p.Asn1238Thr) | |
5 | g.128335277T= | CA1581269514 | FBN2 | n.650A= n.731A= c.3866A= (p.Asn1289=) c.416A= (p.Asn139=) c.3767A= (p.Asn1256=) c.3863A= (p.Asn1288=) c.3713A= (p.Asn1238=) | |
5 | g.128335278T>A | CA360757549 | FBN2 | n.649A>T n.730A>T c.3865A>T (p.Asn1289Tyr) c.415A>T (p.Asn139Tyr) c.3766A>T (p.Asn1256Tyr) c.3862A>T (p.Asn1288Tyr) c.3712A>T (p.Asn1238Tyr) | |
5 | g.128335278T>C | CA360757553 | FBN2 | n.649A>G n.730A>G c.3865A>G (p.Asn1289Asp) c.415A>G (p.Asn139Asp) c.3766A>G (p.Asn1256Asp) c.3862A>G (p.Asn1288Asp) c.3712A>G (p.Asn1238Asp) | |
5 | g.128335278T>G | CA360757551 | FBN2 | n.649A>C n.730A>C c.3865A>C (p.Asn1289His) c.415A>C (p.Asn139His) c.3766A>C (p.Asn1256His) c.3862A>C (p.Asn1288His) c.3712A>C (p.Asn1238His) | |
5 | g.128335279T>A | CA360757555 | FBN2 | n.648A>T n.729A>T c.3864A>T (p.Glu1288Asp) c.414A>T (p.Glu138Asp) c.3765A>T (p.Glu1255Asp) c.3861A>T (p.Glu1287Asp) c.3711A>T (p.Glu1237Asp) | dbSNP |
5 | g.128335279T>C | CA446310095 | FBN2 | n.648A>G n.729A>G c.3864A>G (p.Glu1288=) c.414A>G (p.Glu138=) c.3765A>G (p.Glu1255=) c.3861A>G (p.Glu1287=) c.3711A>G (p.Glu1237=) | |
5 | g.128335279T>G | CA360757557 | FBN2 | n.648A>C n.729A>C c.3864A>C (p.Glu1288Asp) c.414A>C (p.Glu138Asp) c.3765A>C (p.Glu1255Asp) c.3861A>C (p.Glu1287Asp) c.3711A>C (p.Glu1237Asp) | |
5 | g.128335280T>A | CA360757840 | FBN2 | n.647A>T n.728A>T c.3863A>T (p.Glu1288Val) c.413A>T (p.Glu138Val) c.3764A>T (p.Glu1255Val) c.3860A>T (p.Glu1287Val) c.3710A>T (p.Glu1237Val) | |
5 | g.128335280T>C | CA360757841 | FBN2 | n.647A>G n.728A>G c.3863A>G (p.Glu1288Gly) c.413A>G (p.Glu138Gly) c.3764A>G (p.Glu1255Gly) c.3860A>G (p.Glu1287Gly) c.3710A>G (p.Glu1237Gly) | |
5 | g.128335280T>G | CA360757842 | FBN2 | n.647A>C n.728A>C c.3863A>C (p.Glu1288Ala) c.413A>C (p.Glu138Ala) c.3764A>C (p.Glu1255Ala) c.3860A>C (p.Glu1287Ala) c.3710A>C (p.Glu1237Ala) | |
5 | g.128335281C>A | CA360757843 | FBN2 | n.646G>T n.727G>T c.3862G>T (p.Glu1288Ter) c.412G>T (p.Glu138Ter) c.3763G>T (p.Glu1255Ter) c.3859G>T (p.Glu1287Ter) c.3709G>T (p.Glu1237Ter) | |
5 | g.128335281C= | CA1581269515 | FBN2 | n.646G= n.727G= c.3862G= (p.Glu1288=) c.412G= (p.Glu138=) c.3763G= (p.Glu1255=) c.3859G= (p.Glu1287=) c.3709G= (p.Glu1237=) | |
5 | g.128335281C>G | CA360757844 | FBN2 | n.646G>C n.727G>C c.3862G>C (p.Glu1288Gln) c.412G>C (p.Glu138Gln) c.3763G>C (p.Glu1255Gln) c.3859G>C (p.Glu1287Gln) c.3709G>C (p.Glu1237Gln) | |
5 | g.128335281C>T | CA3395110 | FBN2 | n.646G>A n.727G>A c.3862G>A (p.Glu1288Lys) c.412G>A (p.Glu138Lys) c.3763G>A (p.Glu1255Lys) c.3859G>A (p.Glu1287Lys) c.3709G>A (p.Glu1237Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128335282A>C | CA360757845 | FBN2 | n.645T>G n.726T>G c.3861T>G (p.Cys1287Trp) c.411T>G (p.Cys137Trp) c.3762T>G (p.Cys1254Trp) c.3858T>G (p.Cys1286Trp) c.3708T>G (p.Cys1236Trp) | |
5 | g.128335282A>G | CA446310105 | FBN2 | n.645T>C n.726T>C c.3861T>C (p.Cys1287=) c.411T>C (p.Cys137=) c.3762T>C (p.Cys1254=) c.3858T>C (p.Cys1286=) c.3708T>C (p.Cys1236=) | |
5 | g.128335282A>T | CA360757846 | FBN2 | n.645T>A n.726T>A c.3861T>A (p.Cys1287Ter) c.411T>A (p.Cys137Ter) c.3762T>A (p.Cys1254Ter) c.3858T>A (p.Cys1286Ter) c.3708T>A (p.Cys1236Ter) | |
5 | g.128335283C>A | CA360757847 | FBN2 | n.644G>T n.725G>T c.3860G>T (p.Cys1287Phe) c.410G>T (p.Cys137Phe) c.3761G>T (p.Cys1254Phe) c.3857G>T (p.Cys1286Phe) c.3707G>T (p.Cys1236Phe) | |
5 | g.128335283C>G | CA360757848 | FBN2 | n.644G>C n.725G>C c.3860G>C (p.Cys1287Ser) c.410G>C (p.Cys137Ser) c.3761G>C (p.Cys1254Ser) c.3857G>C (p.Cys1286Ser) c.3707G>C (p.Cys1236Ser) | |
5 | g.128335283C>T | CA360757849 | FBN2 | n.644G>A n.725G>A c.3860G>A (p.Cys1287Tyr) c.410G>A (p.Cys137Tyr) c.3761G>A (p.Cys1254Tyr) c.3857G>A (p.Cys1286Tyr) c.3707G>A (p.Cys1236Tyr) | |
5 | g.128335284A>C | CA360757850 | FBN2 | n.643T>G n.724T>G c.3859T>G (p.Cys1287Gly) c.409T>G (p.Cys137Gly) c.3760T>G (p.Cys1254Gly) c.3856T>G (p.Cys1286Gly) c.3706T>G (p.Cys1236Gly) | |
5 | g.128335284A>G | CA360757852 | FBN2 | n.643T>C n.724T>C c.3859T>C (p.Cys1287Arg) c.409T>C (p.Cys137Arg) c.3760T>C (p.Cys1254Arg) c.3856T>C (p.Cys1286Arg) c.3706T>C (p.Cys1236Arg) | |
5 | g.128335284A>T | CA360757851 | FBN2 | n.643T>A n.724T>A c.3859T>A (p.Cys1287Ser) c.409T>A (p.Cys137Ser) c.3760T>A (p.Cys1254Ser) c.3856T>A (p.Cys1286Ser) c.3706T>A (p.Cys1236Ser) | |
5 | g.128335285T>A | CA360757853 | FBN2 | n.642A>T n.723A>T c.3858A>T (p.Glu1286Asp) c.408A>T (p.Glu136Asp) c.3759A>T (p.Glu1253Asp) c.3855A>T (p.Glu1285Asp) c.3705A>T (p.Glu1235Asp) | |
5 | g.128335285T>C | CA127013681 | FBN2 | n.642A>G n.723A>G c.3858A>G (p.Glu1286=) c.408A>G (p.Glu136=) c.3759A>G (p.Glu1253=) c.3855A>G (p.Glu1285=) c.3705A>G (p.Glu1235=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128335285T>G | CA360757854 | FBN2 | n.642A>C n.723A>C c.3858A>C (p.Glu1286Asp) c.408A>C (p.Glu136Asp) c.3759A>C (p.Glu1253Asp) c.3855A>C (p.Glu1285Asp) c.3705A>C (p.Glu1235Asp) | |
5 | g.128335285T= | CA1581269516 | FBN2 | n.642A= n.723A= c.3858A= (p.Glu1286=) c.408A= (p.Glu136=) c.3759A= (p.Glu1253=) c.3855A= (p.Glu1285=) c.3705A= (p.Glu1235=) | |
5 | g.128335286T>A | CA360757855 | FBN2 | n.641A>T n.722A>T c.3857A>T (p.Glu1286Val) c.407A>T (p.Glu136Val) c.3758A>T (p.Glu1253Val) c.3854A>T (p.Glu1285Val) c.3704A>T (p.Glu1235Val) | |
5 | g.128335286T>C | CA360757856 | FBN2 | n.641A>G n.722A>G c.3857A>G (p.Glu1286Gly) c.407A>G (p.Glu136Gly) c.3758A>G (p.Glu1253Gly) c.3854A>G (p.Glu1285Gly) c.3704A>G (p.Glu1235Gly) | |
5 | g.128335286T>G | CA360757857 | FBN2 | n.641A>C n.722A>C c.3857A>C (p.Glu1286Ala) c.407A>C (p.Glu136Ala) c.3758A>C (p.Glu1253Ala) c.3854A>C (p.Glu1285Ala) c.3704A>C (p.Glu1235Ala) | |
5 | g.128335287C>A | CA360757858 | FBN2 | n.640G>T n.721G>T c.3856G>T (p.Glu1286Ter) c.406G>T (p.Glu136Ter) c.3757G>T (p.Glu1253Ter) c.3853G>T (p.Glu1285Ter) c.3703G>T (p.Glu1235Ter) | |
5 | g.128335287C>G | CA360757859 | FBN2 | n.640G>C n.721G>C c.3856G>C (p.Glu1286Gln) c.406G>C (p.Glu136Gln) c.3757G>C (p.Glu1253Gln) c.3853G>C (p.Glu1285Gln) c.3703G>C (p.Glu1235Gln) | ClinVar dbSNP |
5 | g.128335287C>T | CA360757860 | FBN2 | n.640G>A n.721G>A c.3856G>A (p.Glu1286Lys) c.406G>A (p.Glu136Lys) c.3757G>A (p.Glu1253Lys) c.3853G>A (p.Glu1285Lys) c.3703G>A (p.Glu1235Lys) | |
5 | g.128335288A>C | CA360757861 | FBN2 | n.639T>G n.720T>G c.3855T>G (p.Asp1285Glu) c.405T>G (p.Asp135Glu) c.3756T>G (p.Asp1252Glu) c.3852T>G (p.Asp1284Glu) c.3702T>G (p.Asp1234Glu) | |
5 | g.128335288A>G | CA446310106 | FBN2 | n.639T>C n.720T>C c.3855T>C (p.Asp1285=) c.405T>C (p.Asp135=) c.3756T>C (p.Asp1252=) c.3852T>C (p.Asp1284=) c.3702T>C (p.Asp1234=) | |
5 | g.128335288A>T | CA360757862 | FBN2 | n.639T>A n.720T>A c.3855T>A (p.Asp1285Glu) c.405T>A (p.Asp135Glu) c.3756T>A (p.Asp1252Glu) c.3852T>A (p.Asp1284Glu) c.3702T>A (p.Asp1234Glu) | |
5 | g.128335289T>A | CA360757865 | FBN2 | n.638A>T n.719A>T c.3854A>T (p.Asp1285Val) c.404A>T (p.Asp135Val) c.3755A>T (p.Asp1252Val) c.3851A>T (p.Asp1284Val) c.3701A>T (p.Asp1234Val) | gnomAD v4 |
5 | g.128335289T>C | CA360757864 | FBN2 | n.638A>G n.719A>G c.3854A>G (p.Asp1285Gly) c.404A>G (p.Asp135Gly) c.3755A>G (p.Asp1252Gly) c.3851A>G (p.Asp1284Gly) c.3701A>G (p.Asp1234Gly) | gnomAD v4 |
5 | g.128335289T>G | CA360757863 | FBN2 | n.638A>C n.719A>C c.3854A>C (p.Asp1285Ala) c.404A>C (p.Asp135Ala) c.3755A>C (p.Asp1252Ala) c.3851A>C (p.Asp1284Ala) c.3701A>C (p.Asp1234Ala) | |
5 | g.128335290C>A | CA360757866 | FBN2 | n.637G>T n.718G>T c.3853G>T (p.Asp1285Tyr) c.403G>T (p.Asp135Tyr) c.3754G>T (p.Asp1252Tyr) c.3850G>T (p.Asp1284Tyr) c.3700G>T (p.Asp1234Tyr) | |
5 | g.128335290C>G | CA360757867 | FBN2 | n.637G>C n.718G>C c.3853G>C (p.Asp1285His) c.403G>C (p.Asp135His) c.3754G>C (p.Asp1252His) c.3850G>C (p.Asp1284His) c.3700G>C (p.Asp1234His) | gnomAD v4 |
5 | g.128335290C>T | CA360757868 | FBN2 | n.637G>A n.718G>A c.3853G>A (p.Asp1285Asn) c.403G>A (p.Asp135Asn) c.3754G>A (p.Asp1252Asn) c.3850G>A (p.Asp1284Asn) c.3700G>A (p.Asp1234Asn) | gnomAD v4 |
5 | g.128335291A>C | CA360757869 | FBN2 | n.636T>G n.717T>G c.3852T>G (p.Ile1284Met) c.402T>G (p.Ile134Met) c.3753T>G (p.Ile1251Met) c.3849T>G (p.Ile1283Met) c.3699T>G (p.Ile1233Met) | |
5 | g.128335291A>G | CA446310107 | FBN2 | n.636T>C n.717T>C c.3852T>C (p.Ile1284=) c.402T>C (p.Ile134=) c.3753T>C (p.Ile1251=) c.3849T>C (p.Ile1283=) c.3699T>C (p.Ile1233=) | |
5 | g.128335291A>T | CA446310108 | FBN2 | n.636T>A n.717T>A c.3852T>A (p.Ile1284=) c.402T>A (p.Ile134=) c.3753T>A (p.Ile1251=) c.3849T>A (p.Ile1283=) c.3699T>A (p.Ile1233=) | |
5 | g.128335292A= | CA1581269517 | FBN2 | n.635T= n.716T= c.3851T= (p.Ile1284=) c.401T= (p.Ile134=) c.3752T= (p.Ile1251=) c.3848T= (p.Ile1283=) c.3698T= (p.Ile1233=) | |
5 | g.128335292A>C | CA360757870 | FBN2 | n.635T>G n.716T>G c.3851T>G (p.Ile1284Ser) c.401T>G (p.Ile134Ser) c.3752T>G (p.Ile1251Ser) c.3848T>G (p.Ile1283Ser) c.3698T>G (p.Ile1233Ser) | |
5 | g.128335292A>G | CA360757871 | FBN2 | n.635T>C n.716T>C c.3851T>C (p.Ile1284Thr) c.401T>C (p.Ile134Thr) c.3752T>C (p.Ile1251Thr) c.3848T>C (p.Ile1283Thr) c.3698T>C (p.Ile1233Thr) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128335292A>T | CA360757872 | FBN2 | n.635T>A n.716T>A c.3851T>A (p.Ile1284Asn) c.401T>A (p.Ile134Asn) c.3752T>A (p.Ile1251Asn) c.3848T>A (p.Ile1283Asn) c.3698T>A (p.Ile1233Asn) | |
5 | g.128335293T>A | CA360757873 | FBN2 | n.634A>T n.715A>T c.3850A>T (p.Ile1284Phe) c.400A>T (p.Ile134Phe) c.3751A>T (p.Ile1251Phe) c.3847A>T (p.Ile1283Phe) c.3697A>T (p.Ile1233Phe) | |
5 | g.128335293T>C | CA3395111 | FBN2 | n.634A>G n.715A>G c.3850A>G (p.Ile1284Val) c.400A>G (p.Ile134Val) c.3751A>G (p.Ile1251Val) c.3847A>G (p.Ile1283Val) c.3697A>G (p.Ile1233Val) | dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.128335293T>G | CA360757874 | FBN2 | n.634A>C n.715A>C c.3850A>C (p.Ile1284Leu) c.400A>C (p.Ile134Leu) c.3751A>C (p.Ile1251Leu) c.3847A>C (p.Ile1283Leu) c.3697A>C (p.Ile1233Leu) | |
5 | g.128335293T= | CA1581269518 | FBN2 | n.634A= n.715A= c.3850A= (p.Ile1284=) c.400A= (p.Ile134=) c.3751A= (p.Ile1251=) c.3847A= (p.Ile1283=) c.3697A= (p.Ile1233=) | |
5 | g.128335294G>A | CA127013685 | FBN2 | n.633C>T n.714C>T c.3849C>T (p.Asp1283=) c.399C>T (p.Asp133=) c.3750C>T (p.Asp1250=) c.3846C>T (p.Asp1282=) c.3696C>T (p.Asp1232=) | ClinVar dbSNP |
5 | g.128335294G>C | CA360757875 | FBN2 | n.633C>G n.714C>G c.3849C>G (p.Asp1283Glu) c.399C>G (p.Asp133Glu) c.3750C>G (p.Asp1250Glu) c.3846C>G (p.Asp1282Glu) c.3696C>G (p.Asp1232Glu) | |
5 | g.128335294G= | CA1581269519 | FBN2 | n.633C= n.714C= c.3849C= (p.Asp1283=) c.399C= (p.Asp133=) c.3750C= (p.Asp1250=) c.3846C= (p.Asp1282=) c.3696C= (p.Asp1232=) | |
5 | g.128335294G>T | CA360757876 | FBN2 | n.633C>A n.714C>A c.3849C>A (p.Asp1283Glu) c.399C>A (p.Asp133Glu) c.3750C>A (p.Asp1250Glu) c.3846C>A (p.Asp1282Glu) c.3696C>A (p.Asp1232Glu) | |
5 | g.128335295T>A | CA360757879 | FBN2 | n.632A>T n.713A>T c.3848A>T (p.Asp1283Val) c.398A>T (p.Asp133Val) c.3749A>T (p.Asp1250Val) c.3845A>T (p.Asp1282Val) c.3695A>T (p.Asp1232Val) | |
5 | g.128335295T>C | CA360757878 | FBN2 | n.632A>G n.713A>G c.3848A>G (p.Asp1283Gly) c.398A>G (p.Asp133Gly) c.3749A>G (p.Asp1250Gly) c.3845A>G (p.Asp1282Gly) c.3695A>G (p.Asp1232Gly) | gnomAD v4 |
5 | g.128335295T>G | CA360757877 | FBN2 | n.632A>C n.713A>C c.3848A>C (p.Asp1283Ala) c.398A>C (p.Asp133Ala) c.3749A>C (p.Asp1250Ala) c.3845A>C (p.Asp1282Ala) c.3695A>C (p.Asp1232Ala) | |
5 | g.128335296C>A | CA360757880 | FBN2 | n.632-1G>T n.713-1G>T c.3848-1G>T (n.3848-1G>T) c.398-1G>T (n.398-1G>T) c.3749-1G>T (n.3749-1G>T) c.3845-1G>T (n.3845-1G>T) c.3695-1G>T (n.3695-1G>T) | |
5 | g.128335296C= | CA1581269520 | FBN2 | n.632-1G= n.713-1G= c.3848-1G= (n.3848-1G=) c.398-1G= (n.398-1G=) c.3749-1G= (n.3749-1G=) c.3845-1G= (n.3845-1G=) c.3695-1G= (n.3695-1G=) | |
5 | g.128335296C>G | CA360757881 | FBN2 | n.632-1G>C n.713-1G>C c.3848-1G>C (n.3848-1G>C) c.398-1G>C (n.398-1G>C) c.3749-1G>C (n.3749-1G>C) c.3845-1G>C (n.3845-1G>C) c.3695-1G>C (n.3695-1G>C) | |
5 | g.128335296C>T | CA360757882 | FBN2 | n.632-1G>A n.713-1G>A c.3848-1G>A (n.3848-1G>A) c.398-1G>A (n.398-1G>A) c.3749-1G>A (n.3749-1G>A) c.3845-1G>A (n.3845-1G>A) c.3695-1G>A (n.3695-1G>A) | ClinVar dbSNP |
5 | g.128335297T>A | CA360757883 | FBN2 | n.632-2A>T n.713-2A>T c.3848-2A>T (n.3848-2A>T) c.398-2A>T (n.398-2A>T) c.3749-2A>T (n.3749-2A>T) c.3845-2A>T (n.3845-2A>T) c.3695-2A>T (n.3695-2A>T) | |
5 | g.128335297T>C | CA360757884 | FBN2 | n.632-2A>G n.713-2A>G c.3848-2A>G (n.3848-2A>G) c.398-2A>G (n.398-2A>G) c.3749-2A>G (n.3749-2A>G) c.3845-2A>G (n.3845-2A>G) c.3695-2A>G (n.3695-2A>G) | |
5 | g.128335297T>G | CA360757885 | FBN2 | n.632-2A>C n.713-2A>C c.3848-2A>C (n.3848-2A>C) c.398-2A>C (n.398-2A>C) c.3749-2A>C (n.3749-2A>C) c.3845-2A>C (n.3845-2A>C) c.3695-2A>C (n.3695-2A>C) | |
5 | g.128335300T>A | CA2675117073 | FBN2 | n.632-5A>T n.713-5A>T c.3848-5A>T (n.3848-5A>T) c.398-5A>T (n.398-5A>T) c.3749-5A>T (n.3749-5A>T) c.3845-5A>T (n.3845-5A>T) c.3695-5A>T (n.3695-5A>T) | gnomAD v4 |
5 | g.128335301G>T | CA2768335846 | FBN2 | n.632-6C>A n.713-6C>A c.3848-6C>A (n.3848-6C>A) c.398-6C>A (n.398-6C>A) c.3749-6C>A (n.3749-6C>A) c.3845-6C>A (n.3845-6C>A) c.3695-6C>A (n.3695-6C>A) | |
5 | g.128335303T>A | CA2675117074 | FBN2 | n.632-8A>T n.713-8A>T c.3848-8A>T (n.3848-8A>T) c.398-8A>T (n.398-8A>T) c.3749-8A>T (n.3749-8A>T) c.3845-8A>T (n.3845-8A>T) c.3695-8A>T (n.3695-8A>T) | gnomAD v4 |
5 | g.128335303T>C | CA3395112 | FBN2 | n.632-8A>G n.713-8A>G c.3848-8A>G (n.3848-8A>G) c.398-8A>G (n.398-8A>G) c.3749-8A>G (n.3749-8A>G) c.3845-8A>G (n.3845-8A>G) c.3695-8A>G (n.3695-8A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128335303T= | CA1581269521 | FBN2 | n.632-8A= n.713-8A= c.3848-8A= (n.3848-8A=) c.398-8A= (n.398-8A=) c.3749-8A= (n.3749-8A=) c.3845-8A= (n.3845-8A=) c.3695-8A= (n.3695-8A=) | |
5 | g.128335304_128335305insT | CA2578396309 | FBN2 | n.632-10_632-9insA n.713-10_713-9insA c.3848-10_3848-9insA (n.3848-10_3848-9insA) c.398-10_398-9insA (n.398-10_398-9insA) c.3749-10_3749-9insA (n.3749-10_3749-9insA) c.3845-10_3845-9insA (n.3845-10_3845-9insA) c.3695-10_3695-9insA (n.3695-10_3695-9insA) | |
5 | g.128335305C>A | CA290868 | FBN2 | n.632-10G>T n.713-10G>T c.3848-10G>T (n.3848-10G>T) c.398-10G>T (n.398-10G>T) c.3749-10G>T (n.3749-10G>T) c.3845-10G>T (n.3845-10G>T) c.3695-10G>T (n.3695-10G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128335305C= | CA1581269522 | FBN2 | n.632-10G= n.713-10G= c.3848-10G= (n.3848-10G=) c.398-10G= (n.398-10G=) c.3749-10G= (n.3749-10G=) c.3845-10G= (n.3845-10G=) c.3695-10G= (n.3695-10G=) | |
5 | g.128335305C>G | CA2581463892 | FBN2 | n.632-10G>C n.713-10G>C c.3848-10G>C (n.3848-10G>C) c.398-10G>C (n.398-10G>C) c.3749-10G>C (n.3749-10G>C) c.3845-10G>C (n.3845-10G>C) c.3695-10G>C (n.3695-10G>C) | |
5 | g.128335305C>T | CA3395113 | FBN2 | n.632-10G>A n.713-10G>A c.3848-10G>A (n.3848-10G>A) c.398-10G>A (n.398-10G>A) c.3749-10G>A (n.3749-10G>A) c.3845-10G>A (n.3845-10G>A) c.3695-10G>A (n.3695-10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128335310T>C | CA2578396310 | FBN2 | n.632-15A>G n.713-15A>G c.3848-15A>G (n.3848-15A>G) c.398-15A>G (n.398-15A>G) c.3749-15A>G (n.3749-15A>G) c.3845-15A>G (n.3845-15A>G) c.3695-15A>G (n.3695-15A>G) | gnomAD v4 |
5 | g.128335313G>A | CA2675117075 | FBN2 | n.632-18C>T n.713-18C>T c.3848-18C>T (n.3848-18C>T) c.398-18C>T (n.398-18C>T) c.3749-18C>T (n.3749-18C>T) c.3845-18C>T (n.3845-18C>T) c.3695-18C>T (n.3695-18C>T) | gnomAD v4 |
5 | g.128335315A>T | CA2675117076 | FBN2 | n.632-20T>A n.713-20T>A c.3848-20T>A (n.3848-20T>A) c.398-20T>A (n.398-20T>A) c.3749-20T>A (n.3749-20T>A) c.3845-20T>A (n.3845-20T>A) c.3695-20T>A (n.3695-20T>A) | gnomAD v4 |
5 | g.128335316T>A | CA562715381 | FBN2 | n.632-21A>T n.713-21A>T c.3848-21A>T (n.3848-21A>T) c.398-21A>T (n.398-21A>T) c.3749-21A>T (n.3749-21A>T) c.3845-21A>T (n.3845-21A>T) c.3695-21A>T (n.3695-21A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128335316T>C | CA2546192674 | FBN2 | n.632-21A>G n.713-21A>G c.3848-21A>G (n.3848-21A>G) c.398-21A>G (n.398-21A>G) c.3749-21A>G (n.3749-21A>G) c.3845-21A>G (n.3845-21A>G) c.3695-21A>G (n.3695-21A>G) | gnomAD v4 |
5 | g.128335316T= | CA1581269523 | FBN2 | n.632-21A= n.713-21A= c.3848-21A= (n.3848-21A=) c.398-21A= (n.398-21A=) c.3749-21A= (n.3749-21A=) c.3845-21A= (n.3845-21A=) c.3695-21A= (n.3695-21A=) | |
5 | g.128335317C>A | CA1581269525 | FBN2 | n.632-22G>T n.713-22G>T c.3848-22G>T (n.3848-22G>T) c.398-22G>T (n.398-22G>T) c.3749-22G>T (n.3749-22G>T) c.3845-22G>T (n.3845-22G>T) c.3695-22G>T (n.3695-22G>T) | dbSNP gnomAD v4 |
5 | g.128335317C= | CA1581269524 | FBN2 | n.632-22G= n.713-22G= c.3848-22G= (n.3848-22G=) c.398-22G= (n.398-22G=) c.3749-22G= (n.3749-22G=) c.3845-22G= (n.3845-22G=) c.3695-22G= (n.3695-22G=) | |
5 | g.128335317C>G | CA3395114 | FBN2 | n.632-22G>C n.713-22G>C c.3848-22G>C (n.3848-22G>C) c.398-22G>C (n.398-22G>C) c.3749-22G>C (n.3749-22G>C) c.3845-22G>C (n.3845-22G>C) c.3695-22G>C (n.3695-22G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128335317C>T | CA3395115 | FBN2 | n.632-22G>A n.713-22G>A c.3848-22G>A (n.3848-22G>A) c.398-22G>A (n.398-22G>A) c.3749-22G>A (n.3749-22G>A) c.3845-22G>A (n.3845-22G>A) c.3695-22G>A (n.3695-22G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128335319A>G | CA650271443 | FBN2 | n.632-24T>C n.713-24T>C c.3848-24T>C (n.3848-24T>C) c.398-24T>C (n.398-24T>C) c.3749-24T>C (n.3749-24T>C) c.3845-24T>C (n.3845-24T>C) c.3695-24T>C (n.3695-24T>C) | COSMIC |
5 | g.128335319A>T | CA650271440 | FBN2 | n.632-24T>A n.713-24T>A c.3848-24T>A (n.3848-24T>A) c.398-24T>A (n.398-24T>A) c.3749-24T>A (n.3749-24T>A) c.3845-24T>A (n.3845-24T>A) c.3695-24T>A (n.3695-24T>A) | COSMIC |
5 | g.128335320A>G | CA2675117077 | FBN2 | n.632-25T>C n.713-25T>C c.3848-25T>C (n.3848-25T>C) c.398-25T>C (n.398-25T>C) c.3749-25T>C (n.3749-25T>C) c.3845-25T>C (n.3845-25T>C) c.3695-25T>C (n.3695-25T>C) | gnomAD v4 |
5 | g.128335322del | CA2675117078 | FBN2 | n.632-27del n.713-27del c.3848-27del (n.3848-27del) c.398-27del (n.398-27del) c.3749-27del (n.3749-27del) c.3845-27del (n.3845-27del) c.3695-27del (n.3695-27del) | gnomAD v4 |
5 | g.128335323A>G | CA2675117079 | FBN2 | n.632-28T>C n.713-28T>C c.3848-28T>C (n.3848-28T>C) c.398-28T>C (n.398-28T>C) c.3749-28T>C (n.3749-28T>C) c.3845-28T>C (n.3845-28T>C) c.3695-28T>C (n.3695-28T>C) | gnomAD v4 |
5 | g.128335323A>T | CA2675117080 | FBN2 | n.632-28T>A n.713-28T>A c.3848-28T>A (n.3848-28T>A) c.398-28T>A (n.398-28T>A) c.3749-28T>A (n.3749-28T>A) c.3845-28T>A (n.3845-28T>A) c.3695-28T>A (n.3695-28T>A) | gnomAD v4 |
5 | g.128335324A>C | CA2675117081 | FBN2 | n.632-29T>G n.713-29T>G c.3848-29T>G (n.3848-29T>G) c.398-29T>G (n.398-29T>G) c.3749-29T>G (n.3749-29T>G) c.3845-29T>G (n.3845-29T>G) c.3695-29T>G (n.3695-29T>G) | gnomAD v4 |
5 | g.128335327T>A | CA2578396311 | FBN2 | n.632-32A>T n.713-32A>T c.3848-32A>T (n.3848-32A>T) c.398-32A>T (n.398-32A>T) c.3749-32A>T (n.3749-32A>T) c.3845-32A>T (n.3845-32A>T) c.3695-32A>T (n.3695-32A>T) | |
5 | g.128335327T>C | CA1581269527 | FBN2 | n.632-32A>G n.713-32A>G c.3848-32A>G (n.3848-32A>G) c.398-32A>G (n.398-32A>G) c.3749-32A>G (n.3749-32A>G) c.3845-32A>G (n.3845-32A>G) c.3695-32A>G (n.3695-32A>G) | dbSNP gnomAD v4 |
5 | g.128335327T= | CA1581269526 | FBN2 | n.632-32A= n.713-32A= c.3848-32A= (n.3848-32A=) c.398-32A= (n.398-32A=) c.3749-32A= (n.3749-32A=) c.3845-32A= (n.3845-32A=) c.3695-32A= (n.3695-32A=) | |
5 | g.128335327_128335328delinsTA | CA1581269528 | FBN2 | n.632-33_632-32delinsTA n.713-33_713-32delinsTA c.3848-33_3848-32delinsTA (n.3848-33_3848-32delinsTA) c.398-33_398-32delinsTA (n.398-33_398-32delinsTA) c.3749-33_3749-32delinsTA (n.3749-33_3749-32delinsTA) c.3845-33_3845-32delinsTA (n.3845-33_3845-32delinsTA) c.3695-33_3695-32delinsTA (n.3695-33_3695-32delinsTA) | |
5 | g.128335328A= | CA1581269530 | FBN2 | n.632-33T= n.713-33T= c.3848-33T= (n.3848-33T=) c.398-33T= (n.398-33T=) c.3749-33T= (n.3749-33T=) c.3845-33T= (n.3845-33T=) c.3695-33T= (n.3695-33T=) | |
5 | g.128335328A>T | CA1581269531 | FBN2 | n.632-33T>A n.713-33T>A c.3848-33T>A (n.3848-33T>A) c.398-33T>A (n.398-33T>A) c.3749-33T>A (n.3749-33T>A) c.3845-33T>A (n.3845-33T>A) c.3695-33T>A (n.3695-33T>A) | dbSNP gnomAD v4 |
5 | g.128335332del | CA1581269529 | FBN2 | n.632-33del n.713-33del c.3848-33del (n.3848-33del) c.398-33del (n.398-33del) c.3749-33del (n.3749-33del) c.3845-33del (n.3845-33del) c.3695-33del (n.3695-33del) | dbSNP |
5 | g.128335329A= | CA1581269532 | FBN2 | n.632-34T= n.713-34T= c.3848-34T= (n.3848-34T=) c.398-34T= (n.398-34T=) c.3749-34T= (n.3749-34T=) c.3845-34T= (n.3845-34T=) c.3695-34T= (n.3695-34T=) | |
5 | g.128335329A>G | CA562715386 | FBN2 | n.632-34T>C n.713-34T>C c.3848-34T>C (n.3848-34T>C) c.398-34T>C (n.398-34T>C) c.3749-34T>C (n.3749-34T>C) c.3845-34T>C (n.3845-34T>C) c.3695-34T>C (n.3695-34T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128335330A>C | CA2675117082 | FBN2 | n.632-35T>G n.713-35T>G c.3848-35T>G (n.3848-35T>G) c.398-35T>G (n.398-35T>G) c.3749-35T>G (n.3749-35T>G) c.3845-35T>G (n.3845-35T>G) c.3695-35T>G (n.3695-35T>G) | gnomAD v4 |
5 | g.128335330A>T | CA2578396312 | FBN2 | n.632-35T>A n.713-35T>A c.3848-35T>A (n.3848-35T>A) c.398-35T>A (n.398-35T>A) c.3749-35T>A (n.3749-35T>A) c.3845-35T>A (n.3845-35T>A) c.3695-35T>A (n.3695-35T>A) | |
5 | g.128335331A= | CA1581269533 | FBN2 | n.632-36T= n.713-36T= c.3848-36T= (n.3848-36T=) c.398-36T= (n.398-36T=) c.3749-36T= (n.3749-36T=) c.3845-36T= (n.3845-36T=) c.3695-36T= (n.3695-36T=) | |
5 | g.128335331A>G | CA562715388 | FBN2 | n.632-36T>C n.713-36T>C c.3848-36T>C (n.3848-36T>C) c.398-36T>C (n.398-36T>C) c.3749-36T>C (n.3749-36T>C) c.3845-36T>C (n.3845-36T>C) c.3695-36T>C (n.3695-36T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128335332A= | CA1581269534 | FBN2 | n.632-37T= n.713-37T= c.3848-37T= (n.3848-37T=) c.398-37T= (n.398-37T=) c.3749-37T= (n.3749-37T=) c.3845-37T= (n.3845-37T=) c.3695-37T= (n.3695-37T=) | |
5 | g.128335332A>G | CA803636862 | FBN2 | n.632-37T>C n.713-37T>C c.3848-37T>C (n.3848-37T>C) c.398-37T>C (n.398-37T>C) c.3749-37T>C (n.3749-37T>C) c.3845-37T>C (n.3845-37T>C) c.3695-37T>C (n.3695-37T>C) | dbSNP |
5 | g.128335333T>C | CA562715390 | FBN2 | n.632-38A>G n.713-38A>G c.3848-38A>G (n.3848-38A>G) c.398-38A>G (n.398-38A>G) c.3749-38A>G (n.3749-38A>G) c.3845-38A>G (n.3845-38A>G) c.3695-38A>G (n.3695-38A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128335333T= | CA1581269535 | FBN2 | n.632-38A= n.713-38A= c.3848-38A= (n.3848-38A=) c.398-38A= (n.398-38A=) c.3749-38A= (n.3749-38A=) c.3845-38A= (n.3845-38A=) c.3695-38A= (n.3695-38A=) | |
5 | g.128335333_128335336delinsTGTC | CA1581269536 | FBN2 | n.632-41_632-38delinsGACA n.713-41_713-38delinsGACA c.3848-41_3848-38delinsGACA (n.3848-41_3848-38delinsGACA) c.398-41_398-38delinsGACA (n.398-41_398-38delinsGACA) c.3749-41_3749-38delinsGACA (n.3749-41_3749-38delinsGACA) c.3845-41_3845-38delinsGACA (n.3845-41_3845-38delinsGACA) c.3695-41_3695-38delinsGACA (n.3695-41_3695-38delinsGACA) | |
5 | g.128335334G>A | CA650271452 | FBN2 | n.632-39C>T n.713-39C>T c.3848-39C>T (n.3848-39C>T) c.398-39C>T (n.398-39C>T) c.3749-39C>T (n.3749-39C>T) c.3845-39C>T (n.3845-39C>T) c.3695-39C>T (n.3695-39C>T) | COSMIC |
5 | g.128335334G= | CA1581269537 | FBN2 | n.632-39C= n.713-39C= c.3848-39C= (n.3848-39C=) c.398-39C= (n.398-39C=) c.3749-39C= (n.3749-39C=) c.3845-39C= (n.3845-39C=) c.3695-39C= (n.3695-39C=) | |
5 | g.128335334G>T | CA562715393 | FBN2 | n.632-39C>A n.713-39C>A c.3848-39C>A (n.3848-39C>A) c.398-39C>A (n.398-39C>A) c.3749-39C>A (n.3749-39C>A) c.3845-39C>A (n.3845-39C>A) c.3695-39C>A (n.3695-39C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128335336_128335338del | CA562715392 | FBN2 | n.632-41_632-39del n.713-41_713-39del c.3848-41_3848-39del (n.3848-41_3848-39del) c.398-41_398-39del (n.398-41_398-39del) c.3749-41_3749-39del (n.3749-41_3749-39del) c.3845-41_3845-39del (n.3845-41_3845-39del) c.3695-41_3695-39del (n.3695-41_3695-39del) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128335336C= | CA1581269538 | FBN2 | n.632-41G= n.713-41G= c.3848-41G= (n.3848-41G=) c.398-41G= (n.398-41G=) c.3749-41G= (n.3749-41G=) c.3845-41G= (n.3845-41G=) c.3695-41G= (n.3695-41G=) | |
5 | g.128335336C>T | CA3395116 | FBN2 | n.632-41G>A n.713-41G>A c.3848-41G>A (n.3848-41G>A) c.398-41G>A (n.398-41G>A) c.3749-41G>A (n.3749-41G>A) c.3845-41G>A (n.3845-41G>A) c.3695-41G>A (n.3695-41G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128335336_128335337insT | CA2675117083 | FBN2 | n.632-42_632-41insA n.713-42_713-41insA c.3848-42_3848-41insA (n.3848-42_3848-41insA) c.398-42_398-41insA (n.398-42_398-41insA) c.3749-42_3749-41insA (n.3749-42_3749-41insA) c.3845-42_3845-41insA (n.3845-42_3845-41insA) c.3695-42_3695-41insA (n.3695-42_3695-41insA) | gnomAD v4 |
5 | g.128335336_128335337insTAAAG | CA2514313286 | FBN2 | n.632-42_632-41insCTTTA n.713-42_713-41insCTTTA c.3848-42_3848-41insCTTTA (n.3848-42_3848-41insCTTTA) c.398-42_398-41insCTTTA (n.398-42_398-41insCTTTA) c.3749-42_3749-41insCTTTA (n.3749-42_3749-41insCTTTA) c.3845-42_3845-41insCTTTA (n.3845-42_3845-41insCTTTA) c.3695-42_3695-41insCTTTA (n.3695-42_3695-41insCTTTA) | |
5 | g.128335337G>A | CA3395117 | FBN2 | n.632-42C>T n.713-42C>T c.3848-42C>T (n.3848-42C>T) c.398-42C>T (n.398-42C>T) c.3749-42C>T (n.3749-42C>T) c.3845-42C>T (n.3845-42C>T) c.3695-42C>T (n.3695-42C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128335337G>C | CA2768335847 | FBN2 | n.632-42C>G n.713-42C>G c.3848-42C>G (n.3848-42C>G) c.398-42C>G (n.398-42C>G) c.3749-42C>G (n.3749-42C>G) c.3845-42C>G (n.3845-42C>G) c.3695-42C>G (n.3695-42C>G) | |
5 | g.128335337G= | CA1581269539 | FBN2 | n.632-42C= n.713-42C= c.3848-42C= (n.3848-42C=) c.398-42C= (n.398-42C=) c.3749-42C= (n.3749-42C=) c.3845-42C= (n.3845-42C=) c.3695-42C= (n.3695-42C=) | |
5 | g.128335337G>T | CA2675117084 | FBN2 | n.632-42C>A n.713-42C>A c.3848-42C>A (n.3848-42C>A) c.398-42C>A (n.398-42C>A) c.3749-42C>A (n.3749-42C>A) c.3845-42C>A (n.3845-42C>A) c.3695-42C>A (n.3695-42C>A) | gnomAD v4 |
5 | g.128335338T>C | CA3395118 | FBN2 | n.632-43A>G n.713-43A>G c.3848-43A>G (n.3848-43A>G) c.398-43A>G (n.398-43A>G) c.3749-43A>G (n.3749-43A>G) c.3845-43A>G (n.3845-43A>G) c.3695-43A>G (n.3695-43A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128335338T>G | CA127013704 | FBN2 | n.632-43A>C n.713-43A>C c.3848-43A>C (n.3848-43A>C) c.398-43A>C (n.398-43A>C) c.3749-43A>C (n.3749-43A>C) c.3845-43A>C (n.3845-43A>C) c.3695-43A>C (n.3695-43A>C) | dbSNP |
5 | g.128335338T= | CA1581269540 | FBN2 | n.632-43A= n.713-43A= c.3848-43A= (n.3848-43A=) c.398-43A= (n.398-43A=) c.3749-43A= (n.3749-43A=) c.3845-43A= (n.3845-43A=) c.3695-43A= (n.3695-43A=) | |
5 | g.128335340C>A | CA1581269542 | FBN2 | n.632-45G>T n.713-45G>T c.3848-45G>T (n.3848-45G>T) c.398-45G>T (n.398-45G>T) c.3749-45G>T (n.3749-45G>T) c.3845-45G>T (n.3845-45G>T) c.3695-45G>T (n.3695-45G>T) | dbSNP gnomAD v4 |
5 | g.128335340C= | CA1581269541 | FBN2 | n.632-45G= n.713-45G= c.3848-45G= (n.3848-45G=) c.398-45G= (n.398-45G=) c.3749-45G= (n.3749-45G=) c.3845-45G= (n.3845-45G=) c.3695-45G= (n.3695-45G=) | |
5 | g.128335341A= | CA1581269543 | FBN2 | n.632-46T= n.713-46T= c.3848-46T= (n.3848-46T=) c.398-46T= (n.398-46T=) c.3749-46T= (n.3749-46T=) c.3845-46T= (n.3845-46T=) c.3695-46T= (n.3695-46T=) | |
5 | g.128335341A>C | CA2675117085 | FBN2 | n.632-46T>G n.713-46T>G c.3848-46T>G (n.3848-46T>G) c.398-46T>G (n.398-46T>G) c.3749-46T>G (n.3749-46T>G) c.3845-46T>G (n.3845-46T>G) c.3695-46T>G (n.3695-46T>G) | gnomAD v4 |
5 | g.128335341A>G | CA2675117086 | FBN2 | n.632-46T>C n.713-46T>C c.3848-46T>C (n.3848-46T>C) c.398-46T>C (n.398-46T>C) c.3749-46T>C (n.3749-46T>C) c.3845-46T>C (n.3845-46T>C) c.3695-46T>C (n.3695-46T>C) | gnomAD v4 |
5 | g.128335341A>T | CA3395119 | FBN2 | n.632-46T>A n.713-46T>A c.3848-46T>A (n.3848-46T>A) c.398-46T>A (n.398-46T>A) c.3749-46T>A (n.3749-46T>A) c.3845-46T>A (n.3845-46T>A) c.3695-46T>A (n.3695-46T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128335342T>A | CA127013710 | FBN2 | n.632-47A>T n.713-47A>T c.3848-47A>T (n.3848-47A>T) c.398-47A>T (n.398-47A>T) c.3749-47A>T (n.3749-47A>T) c.3845-47A>T (n.3845-47A>T) c.3695-47A>T (n.3695-47A>T) | dbSNP |
5 | g.128335342T= | CA1581269544 | FBN2 | n.632-47A= n.713-47A= c.3848-47A= (n.3848-47A=) c.398-47A= (n.398-47A=) c.3749-47A= (n.3749-47A=) c.3845-47A= (n.3845-47A=) c.3695-47A= (n.3695-47A=) | |
5 | g.128335343C= | CA1581269545 | FBN2 | n.632-48G= n.713-48G= c.3848-48G= (n.3848-48G=) c.398-48G= (n.398-48G=) c.3749-48G= (n.3749-48G=) c.3845-48G= (n.3845-48G=) c.3695-48G= (n.3695-48G=) | |
5 | g.128335343C>G | CA127013715 | FBN2 | n.632-48G>C n.713-48G>C c.3848-48G>C (n.3848-48G>C) c.398-48G>C (n.398-48G>C) c.3749-48G>C (n.3749-48G>C) c.3845-48G>C (n.3845-48G>C) c.3695-48G>C (n.3695-48G>C) | dbSNP gnomAD v4 |
5 | g.128335344A= | CA1581269546 | FBN2 | n.632-49T= n.713-49T= c.3848-49T= (n.3848-49T=) c.398-49T= (n.398-49T=) c.3749-49T= (n.3749-49T=) c.3845-49T= (n.3845-49T=) c.3695-49T= (n.3695-49T=) | |
5 | g.128335344A>T | CA3395120 | FBN2 | n.632-49T>A n.713-49T>A c.3848-49T>A (n.3848-49T>A) c.398-49T>A (n.398-49T>A) c.3749-49T>A (n.3749-49T>A) c.3845-49T>A (n.3845-49T>A) c.3695-49T>A (n.3695-49T>A) | dbSNP ExAC gnomAD v2 |
5 | g.128335345A= | CA1581269547 | FBN2 | n.632-50T= n.713-50T= c.3848-50T= (n.3848-50T=) c.398-50T= (n.398-50T=) c.3749-50T= (n.3749-50T=) c.3845-50T= (n.3845-50T=) c.3695-50T= (n.3695-50T=) | |
5 | g.128335345A>G | CA3395121 | FBN2 | n.632-50T>C n.713-50T>C c.3848-50T>C (n.3848-50T>C) c.398-50T>C (n.398-50T>C) c.3749-50T>C (n.3749-50T>C) c.3845-50T>C (n.3845-50T>C) c.3695-50T>C (n.3695-50T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128335346T>C | CA2675117087 | FBN2 | n.632-51A>G n.713-51A>G c.3848-51A>G (n.3848-51A>G) c.398-51A>G (n.398-51A>G) c.3749-51A>G (n.3749-51A>G) c.3845-51A>G (n.3845-51A>G) c.3695-51A>G (n.3695-51A>G) | gnomAD v4 |
5 | g.128335349C>A | CA650271459 | FBN2 | n.632-54G>T n.713-54G>T c.3848-54G>T (n.3848-54G>T) c.398-54G>T (n.398-54G>T) c.3749-54G>T (n.3749-54G>T) c.3845-54G>T (n.3845-54G>T) c.3695-54G>T (n.3695-54G>T) | COSMIC |
5 | g.128335350A>C | CA2675117088 | FBN2 | n.632-55T>G n.713-55T>G c.3848-55T>G (n.3848-55T>G) c.398-55T>G (n.398-55T>G) c.3749-55T>G (n.3749-55T>G) c.3845-55T>G (n.3845-55T>G) c.3695-55T>G (n.3695-55T>G) | gnomAD v4 |
5 | g.128335351A= | CA1581269548 | FBN2 | n.632-56T= n.713-56T= c.3848-56T= (n.3848-56T=) c.398-56T= (n.398-56T=) c.3749-56T= (n.3749-56T=) c.3845-56T= (n.3845-56T=) c.3695-56T= (n.3695-56T=) | |
5 | g.128335351A>G | CA2675117089 | FBN2 | n.632-56T>C n.713-56T>C c.3848-56T>C (n.3848-56T>C) c.398-56T>C (n.398-56T>C) c.3749-56T>C (n.3749-56T>C) c.3845-56T>C (n.3845-56T>C) c.3695-56T>C (n.3695-56T>C) | gnomAD v4 |
5 | g.128335351A>T | CA803636879 | FBN2 | n.632-56T>A n.713-56T>A c.3848-56T>A (n.3848-56T>A) c.398-56T>A (n.398-56T>A) c.3749-56T>A (n.3749-56T>A) c.3845-56T>A (n.3845-56T>A) c.3695-56T>A (n.3695-56T>A) | dbSNP gnomAD v3 gnomAD v4 |