UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128335210A>C | CA360757377 | FBN2 | n.717T>G n.798T>G c.3933T>G (p.Tyr1311Ter) c.483T>G (p.Tyr161Ter) c.3834T>G (p.Tyr1278Ter) c.3930T>G (p.Tyr1310Ter) c.3780T>G (p.Tyr1260Ter) | |
| 5 | g.128335210A>G | CA446310057 | FBN2 | n.717T>C n.798T>C c.3933T>C (p.Tyr1311=) c.483T>C (p.Tyr161=) c.3834T>C (p.Tyr1278=) c.3930T>C (p.Tyr1310=) c.3780T>C (p.Tyr1260=) | |
| 5 | g.128335210A>T | CA360757378 | FBN2 | n.717T>A n.798T>A c.3933T>A (p.Tyr1311Ter) c.483T>A (p.Tyr161Ter) c.3834T>A (p.Tyr1278Ter) c.3930T>A (p.Tyr1310Ter) c.3780T>A (p.Tyr1260Ter) | |
| 5 | g.128335211T>A | CA360757379 | FBN2 | n.716A>T n.797A>T c.3932A>T (p.Tyr1311Phe) c.482A>T (p.Tyr161Phe) c.3833A>T (p.Tyr1278Phe) c.3929A>T (p.Tyr1310Phe) c.3779A>T (p.Tyr1260Phe) | |
| 5 | g.128335211T>C | CA321929 | FBN2 | n.716A>G n.797A>G c.3932A>G (p.Tyr1311Cys) c.482A>G (p.Tyr161Cys) c.3833A>G (p.Tyr1278Cys) c.3929A>G (p.Tyr1310Cys) c.3779A>G (p.Tyr1260Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335211T>G | CA360757380 | FBN2 | n.716A>C n.797A>C c.3932A>C (p.Tyr1311Ser) c.482A>C (p.Tyr161Ser) c.3833A>C (p.Tyr1278Ser) c.3929A>C (p.Tyr1310Ser) c.3779A>C (p.Tyr1260Ser) | dbSNP |
| 5 | g.128335211T= | CA1581269482 | FBN2 | n.716A= n.797A= c.3932A= (p.Tyr1311=) c.482A= (p.Tyr161=) c.3833A= (p.Tyr1278=) c.3929A= (p.Tyr1310=) c.3779A= (p.Tyr1260=) | |
| 5 | g.128335212A= | CA1581269483 | FBN2 | n.715T= n.796T= c.3931T= (p.Tyr1311=) c.481T= (p.Tyr161=) c.3832T= (p.Tyr1278=) c.3928T= (p.Tyr1310=) c.3778T= (p.Tyr1260=) | |
| 5 | g.128335212A>C | CA360757381 | FBN2 | n.715T>G n.796T>G c.3931T>G (p.Tyr1311Asp) c.481T>G (p.Tyr161Asp) c.3832T>G (p.Tyr1278Asp) c.3928T>G (p.Tyr1310Asp) c.3778T>G (p.Tyr1260Asp) | |
| 5 | g.128335212A>G | CA360757382 | FBN2 | n.715T>C n.796T>C c.3931T>C (p.Tyr1311His) c.481T>C (p.Tyr161His) c.3832T>C (p.Tyr1278His) c.3928T>C (p.Tyr1310His) c.3778T>C (p.Tyr1260His) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128335212A>T | CA360757383 | FBN2 | n.715T>A n.796T>A c.3931T>A (p.Tyr1311Asn) c.481T>A (p.Tyr161Asn) c.3832T>A (p.Tyr1278Asn) c.3928T>A (p.Tyr1310Asn) c.3778T>A (p.Tyr1260Asn) | |
| 5 | g.128335213G>A | CA446310058 | FBN2 | n.714C>T n.795C>T c.3930C>T (p.Cys1310=) c.480C>T (p.Cys160=) c.3831C>T (p.Cys1277=) c.3927C>T (p.Cys1309=) c.3777C>T (p.Cys1259=) | |
| 5 | g.128335213G>C | CA360757385 | FBN2 | n.714C>G n.795C>G c.3930C>G (p.Cys1310Trp) c.480C>G (p.Cys160Trp) c.3831C>G (p.Cys1277Trp) c.3927C>G (p.Cys1309Trp) c.3777C>G (p.Cys1259Trp) | |
| 5 | g.128335213G>T | CA360757384 | FBN2 | n.714C>A n.795C>A c.3930C>A (p.Cys1310Ter) c.480C>A (p.Cys160Ter) c.3831C>A (p.Cys1277Ter) c.3927C>A (p.Cys1309Ter) c.3777C>A (p.Cys1259Ter) | |
| 5 | g.128335214C>A | CA360757386 | FBN2 | n.713G>T n.794G>T c.3929G>T (p.Cys1310Phe) c.479G>T (p.Cys160Phe) c.3830G>T (p.Cys1277Phe) c.3926G>T (p.Cys1309Phe) c.3776G>T (p.Cys1259Phe) | COSMIC COSMIC |
| 5 | g.128335214C>G | CA360757387 | FBN2 | n.713G>C n.794G>C c.3929G>C (p.Cys1310Ser) c.479G>C (p.Cys160Ser) c.3830G>C (p.Cys1277Ser) c.3926G>C (p.Cys1309Ser) c.3776G>C (p.Cys1259Ser) | |
| 5 | g.128335214C>T | CA360757388 | FBN2 | n.713G>A n.794G>A c.3929G>A (p.Cys1310Tyr) c.479G>A (p.Cys160Tyr) c.3830G>A (p.Cys1277Tyr) c.3926G>A (p.Cys1309Tyr) c.3776G>A (p.Cys1259Tyr) | |
| 5 | g.128335215A>C | CA360757389 | FBN2 | n.712T>G n.793T>G c.3928T>G (p.Cys1310Gly) c.478T>G (p.Cys160Gly) c.3829T>G (p.Cys1277Gly) c.3925T>G (p.Cys1309Gly) c.3775T>G (p.Cys1259Gly) | |
| 5 | g.128335215A>G | CA360757390 | FBN2 | n.712T>C n.793T>C c.3928T>C (p.Cys1310Arg) c.478T>C (p.Cys160Arg) c.3829T>C (p.Cys1277Arg) c.3925T>C (p.Cys1309Arg) c.3775T>C (p.Cys1259Arg) | |
| 5 | g.128335215A>T | CA360757391 | FBN2 | n.712T>A n.793T>A c.3928T>A (p.Cys1310Ser) c.478T>A (p.Cys160Ser) c.3829T>A (p.Cys1277Ser) c.3925T>A (p.Cys1309Ser) c.3775T>A (p.Cys1259Ser) | |
| 5 | g.128335216G>A | CA446310059 | FBN2 | n.711C>T n.792C>T c.3927C>T (p.Leu1309=) c.477C>T (p.Leu159=) c.3828C>T (p.Leu1276=) c.3924C>T (p.Leu1308=) c.3774C>T (p.Leu1258=) | |
| 5 | g.128335216G>C | CA446310061 | FBN2 | n.711C>G n.792C>G c.3927C>G (p.Leu1309=) c.477C>G (p.Leu159=) c.3828C>G (p.Leu1276=) c.3924C>G (p.Leu1308=) c.3774C>G (p.Leu1258=) | |
| 5 | g.128335216G>T | CA446310060 | FBN2 | n.711C>A n.792C>A c.3927C>A (p.Leu1309=) c.477C>A (p.Leu159=) c.3828C>A (p.Leu1276=) c.3924C>A (p.Leu1308=) c.3774C>A (p.Leu1258=) | |
| 5 | g.128335217A>C | CA360757394 | FBN2 | n.710T>G n.791T>G c.3926T>G (p.Leu1309Arg) c.476T>G (p.Leu159Arg) c.3827T>G (p.Leu1276Arg) c.3923T>G (p.Leu1308Arg) c.3773T>G (p.Leu1258Arg) | gnomAD v4 |
| 5 | g.128335217A>G | CA360757392 | FBN2 | n.710T>C n.791T>C c.3926T>C (p.Leu1309Pro) c.476T>C (p.Leu159Pro) c.3827T>C (p.Leu1276Pro) c.3923T>C (p.Leu1308Pro) c.3773T>C (p.Leu1258Pro) | |
| 5 | g.128335217A>T | CA360757393 | FBN2 | n.710T>A n.791T>A c.3926T>A (p.Leu1309His) c.476T>A (p.Leu159His) c.3827T>A (p.Leu1276His) c.3923T>A (p.Leu1308His) c.3773T>A (p.Leu1258His) | |
| 5 | g.128335218G>A | CA3395100 | FBN2 | n.709C>T n.790C>T c.3925C>T (p.Leu1309Phe) c.475C>T (p.Leu159Phe) c.3826C>T (p.Leu1276Phe) c.3922C>T (p.Leu1308Phe) c.3772C>T (p.Leu1258Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128335218G>C | CA360757395 | FBN2 | n.709C>G n.790C>G c.3925C>G (p.Leu1309Val) c.475C>G (p.Leu159Val) c.3826C>G (p.Leu1276Val) c.3922C>G (p.Leu1308Val) c.3772C>G (p.Leu1258Val) | |
| 5 | g.128335218G= | CA1581269484 | FBN2 | n.709C= n.790C= c.3925C= (p.Leu1309=) c.475C= (p.Leu159=) c.3826C= (p.Leu1276=) c.3922C= (p.Leu1308=) c.3772C= (p.Leu1258=) | |
| 5 | g.128335218G>T | CA360757396 | FBN2 | n.709C>A n.790C>A c.3925C>A (p.Leu1309Ile) c.475C>A (p.Leu159Ile) c.3826C>A (p.Leu1276Ile) c.3922C>A (p.Leu1308Ile) c.3772C>A (p.Leu1258Ile) | |
| 5 | g.128335219G>A | CA446310062 | FBN2 | n.708C>T n.789C>T c.3924C>T (p.Cys1308=) c.474C>T (p.Cys158=) c.3825C>T (p.Cys1275=) c.3921C>T (p.Cys1307=) c.3771C>T (p.Cys1257=) | |
| 5 | g.128335219G>C | CA360757397 | FBN2 | n.708C>G n.789C>G c.3924C>G (p.Cys1308Trp) c.474C>G (p.Cys158Trp) c.3825C>G (p.Cys1275Trp) c.3921C>G (p.Cys1307Trp) c.3771C>G (p.Cys1257Trp) | |
| 5 | g.128335219G>T | CA360757398 | FBN2 | n.708C>A n.789C>A c.3924C>A (p.Cys1308Ter) c.474C>A (p.Cys158Ter) c.3825C>A (p.Cys1275Ter) c.3921C>A (p.Cys1307Ter) c.3771C>A (p.Cys1257Ter) | |
| 5 | g.128335220C>A | CA360757399 | FBN2 | n.707G>T n.788G>T c.3923G>T (p.Cys1308Phe) c.473G>T (p.Cys158Phe) c.3824G>T (p.Cys1275Phe) c.3920G>T (p.Cys1307Phe) c.3770G>T (p.Cys1257Phe) | |
| 5 | g.128335220C>G | CA360757401 | FBN2 | n.707G>C n.788G>C c.3923G>C (p.Cys1308Ser) c.473G>C (p.Cys158Ser) c.3824G>C (p.Cys1275Ser) c.3920G>C (p.Cys1307Ser) c.3770G>C (p.Cys1257Ser) | |
| 5 | g.128335220C>T | CA360757400 | FBN2 | n.707G>A n.788G>A c.3923G>A (p.Cys1308Tyr) c.473G>A (p.Cys158Tyr) c.3824G>A (p.Cys1275Tyr) c.3920G>A (p.Cys1307Tyr) c.3770G>A (p.Cys1257Tyr) | |
| 5 | g.128335220dup | CA2695205117 | FBN2 | n.707dup n.788dup c.3923dup (p.Cys1308TrpfsTer5) c.473dup (p.Cys158TrpfsTer5) c.3824dup (p.Cys1275TrpfsTer5) c.3920dup (p.Cys1307TrpfsTer5) c.3770dup (p.Cys1257TrpfsTer5) | |
| 5 | g.128335221A>C | CA360757402 | FBN2 | n.706T>G n.787T>G c.3922T>G (p.Cys1308Gly) c.472T>G (p.Cys158Gly) c.3823T>G (p.Cys1275Gly) c.3919T>G (p.Cys1307Gly) c.3769T>G (p.Cys1257Gly) | |
| 5 | g.128335221A>G | CA360757403 | FBN2 | n.706T>C n.787T>C c.3922T>C (p.Cys1308Arg) c.472T>C (p.Cys158Arg) c.3823T>C (p.Cys1275Arg) c.3919T>C (p.Cys1307Arg) c.3769T>C (p.Cys1257Arg) | |
| 5 | g.128335221A>T | CA360757404 | FBN2 | n.706T>A n.787T>A c.3922T>A (p.Cys1308Ser) c.472T>A (p.Cys158Ser) c.3823T>A (p.Cys1275Ser) c.3919T>A (p.Cys1307Ser) c.3769T>A (p.Cys1257Ser) | |
| 5 | g.128335222G>A | CA446310063 | FBN2 | n.705C>T n.786C>T c.3921C>T (p.Arg1307=) c.471C>T (p.Arg157=) c.3822C>T (p.Arg1274=) c.3918C>T (p.Arg1306=) c.3768C>T (p.Arg1256=) | |
| 5 | g.128335222G>C | CA446310064 | FBN2 | n.705C>G n.786C>G c.3921C>G (p.Arg1307=) c.471C>G (p.Arg157=) c.3822C>G (p.Arg1274=) c.3918C>G (p.Arg1306=) c.3768C>G (p.Arg1256=) | ClinVar |
| 5 | g.128335222G>T | CA446310065 | FBN2 | n.705C>A n.786C>A c.3921C>A (p.Arg1307=) c.471C>A (p.Arg157=) c.3822C>A (p.Arg1274=) c.3918C>A (p.Arg1306=) c.3768C>A (p.Arg1256=) | |
| 5 | g.128335223C>A | CA360757405 | FBN2 | n.704G>T n.785G>T c.3920G>T (p.Arg1307Leu) c.470G>T (p.Arg157Leu) c.3821G>T (p.Arg1274Leu) c.3917G>T (p.Arg1306Leu) c.3767G>T (p.Arg1256Leu) | gnomAD v4 |
| 5 | g.128335223C= | CA1581269485 | FBN2 | n.704G= n.785G= c.3920G= (p.Arg1307=) c.470G= (p.Arg157=) c.3821G= (p.Arg1274=) c.3917G= (p.Arg1306=) c.3767G= (p.Arg1256=) | |
| 5 | g.128335223C>G | CA360757406 | FBN2 | n.704G>C n.785G>C c.3920G>C (p.Arg1307Pro) c.470G>C (p.Arg157Pro) c.3821G>C (p.Arg1274Pro) c.3917G>C (p.Arg1306Pro) c.3767G>C (p.Arg1256Pro) | |
| 5 | g.128335223C>T | CA3395101 | FBN2 | n.704G>A n.785G>A c.3920G>A (p.Arg1307His) c.470G>A (p.Arg157His) c.3821G>A (p.Arg1274His) c.3917G>A (p.Arg1306His) c.3767G>A (p.Arg1256His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335224G>A | CA127008422 | FBN2 | n.703C>T n.784C>T c.3919C>T (p.Arg1307Cys) c.469C>T (p.Arg157Cys) c.3820C>T (p.Arg1274Cys) c.3916C>T (p.Arg1306Cys) c.3766C>T (p.Arg1256Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335224G>C | CA360757407 | FBN2 | n.703C>G n.784C>G c.3919C>G (p.Arg1307Gly) c.469C>G (p.Arg157Gly) c.3820C>G (p.Arg1274Gly) c.3916C>G (p.Arg1306Gly) c.3766C>G (p.Arg1256Gly) | |
| 5 | g.128335224G= | CA1581269486 | FBN2 | n.703C= n.784C= c.3919C= (p.Arg1307=) c.469C= (p.Arg157=) c.3820C= (p.Arg1274=) c.3916C= (p.Arg1306=) c.3766C= (p.Arg1256=) | |
| 5 | g.128335224G>T | CA360757408 | FBN2 | n.703C>A n.784C>A c.3919C>A (p.Arg1307Ser) c.469C>A (p.Arg157Ser) c.3820C>A (p.Arg1274Ser) c.3916C>A (p.Arg1306Ser) c.3766C>A (p.Arg1256Ser) | |
| 5 | g.128335225A>C | CA360757409 | FBN2 | n.702T>G n.783T>G c.3918T>G (p.Tyr1306Ter) c.468T>G (p.Tyr156Ter) c.3819T>G (p.Tyr1273Ter) c.3915T>G (p.Tyr1305Ter) c.3765T>G (p.Tyr1255Ter) | |
| 5 | g.128335225A>G | CA446310066 | FBN2 | n.702T>C n.783T>C c.3918T>C (p.Tyr1306=) c.468T>C (p.Tyr156=) c.3819T>C (p.Tyr1273=) c.3915T>C (p.Tyr1305=) c.3765T>C (p.Tyr1255=) | |
| 5 | g.128335225A>T | CA360757410 | FBN2 | n.702T>A n.783T>A c.3918T>A (p.Tyr1306Ter) c.468T>A (p.Tyr156Ter) c.3819T>A (p.Tyr1273Ter) c.3915T>A (p.Tyr1305Ter) c.3765T>A (p.Tyr1255Ter) | |
| 5 | g.128335226T>A | CA360757413 | FBN2 | n.701A>T n.782A>T c.3917A>T (p.Tyr1306Phe) c.467A>T (p.Tyr156Phe) c.3818A>T (p.Tyr1273Phe) c.3914A>T (p.Tyr1305Phe) c.3764A>T (p.Tyr1255Phe) | |
| 5 | g.128335226T>C | CA360757412 | FBN2 | n.701A>G n.782A>G c.3917A>G (p.Tyr1306Cys) c.467A>G (p.Tyr156Cys) c.3818A>G (p.Tyr1273Cys) c.3914A>G (p.Tyr1305Cys) c.3764A>G (p.Tyr1255Cys) | |
| 5 | g.128335226T>G | CA360757411 | FBN2 | n.701A>C n.782A>C c.3917A>C (p.Tyr1306Ser) c.467A>C (p.Tyr156Ser) c.3818A>C (p.Tyr1273Ser) c.3914A>C (p.Tyr1305Ser) c.3764A>C (p.Tyr1255Ser) | |
| 5 | g.128335227A>C | CA360757414 | FBN2 | n.700T>G n.781T>G c.3916T>G (p.Tyr1306Asp) c.466T>G (p.Tyr156Asp) c.3817T>G (p.Tyr1273Asp) c.3913T>G (p.Tyr1305Asp) c.3763T>G (p.Tyr1255Asp) | |
| 5 | g.128335227A>G | CA360757416 | FBN2 | n.700T>C n.781T>C c.3916T>C (p.Tyr1306His) c.466T>C (p.Tyr156His) c.3817T>C (p.Tyr1273His) c.3913T>C (p.Tyr1305His) c.3763T>C (p.Tyr1255His) | |
| 5 | g.128335227A>T | CA360757415 | FBN2 | n.700T>A n.781T>A c.3916T>A (p.Tyr1306Asn) c.466T>A (p.Tyr156Asn) c.3817T>A (p.Tyr1273Asn) c.3913T>A (p.Tyr1305Asn) c.3763T>A (p.Tyr1255Asn) | |
| 5 | g.128335228C>A | CA360757417 | FBN2 | n.699G>T n.780G>T c.3915G>T (p.Glu1305Asp) c.465G>T (p.Glu155Asp) c.3816G>T (p.Glu1272Asp) c.3912G>T (p.Glu1304Asp) c.3762G>T (p.Glu1254Asp) | |
| 5 | g.128335228C= | CA1581269487 | FBN2 | n.699G= n.780G= c.3915G= (p.Glu1305=) c.465G= (p.Glu155=) c.3816G= (p.Glu1272=) c.3912G= (p.Glu1304=) c.3762G= (p.Glu1254=) | |
| 5 | g.128335228C>G | CA360757418 | FBN2 | n.699G>C n.780G>C c.3915G>C (p.Glu1305Asp) c.465G>C (p.Glu155Asp) c.3816G>C (p.Glu1272Asp) c.3912G>C (p.Glu1304Asp) c.3762G>C (p.Glu1254Asp) | |
| 5 | g.128335228C>T | CA127008426 | FBN2 | n.699G>A n.780G>A c.3915G>A (p.Glu1305=) c.465G>A (p.Glu155=) c.3816G>A (p.Glu1272=) c.3912G>A (p.Glu1304=) c.3762G>A (p.Glu1254=) | dbSNP |
| 5 | g.128335229T>A | CA360757419 | FBN2 | n.698A>T n.779A>T c.3914A>T (p.Glu1305Val) c.464A>T (p.Glu155Val) c.3815A>T (p.Glu1272Val) c.3911A>T (p.Glu1304Val) c.3761A>T (p.Glu1254Val) | |
| 5 | g.128335229T>C | CA3395102 | FBN2 | n.698A>G n.779A>G c.3914A>G (p.Glu1305Gly) c.464A>G (p.Glu155Gly) c.3815A>G (p.Glu1272Gly) c.3911A>G (p.Glu1304Gly) c.3761A>G (p.Glu1254Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335229T>G | CA360757420 | FBN2 | n.698A>C n.779A>C c.3914A>C (p.Glu1305Ala) c.464A>C (p.Glu155Ala) c.3815A>C (p.Glu1272Ala) c.3911A>C (p.Glu1304Ala) c.3761A>C (p.Glu1254Ala) | |
| 5 | g.128335229T= | CA1581269488 | FBN2 | n.698A= n.779A= c.3914A= (p.Glu1305=) c.464A= (p.Glu155=) c.3815A= (p.Glu1272=) c.3911A= (p.Glu1304=) c.3761A= (p.Glu1254=) | |
| 5 | g.128335230C>A | CA360757421 | FBN2 | n.697G>T n.778G>T c.3913G>T (p.Glu1305Ter) c.463G>T (p.Glu155Ter) c.3814G>T (p.Glu1272Ter) c.3910G>T (p.Glu1304Ter) c.3760G>T (p.Glu1254Ter) | |
| 5 | g.128335230C>G | CA360757422 | FBN2 | n.697G>C n.778G>C c.3913G>C (p.Glu1305Gln) c.463G>C (p.Glu155Gln) c.3814G>C (p.Glu1272Gln) c.3910G>C (p.Glu1304Gln) c.3760G>C (p.Glu1254Gln) | |
| 5 | g.128335230C>T | CA360757423 | FBN2 | n.697G>A n.778G>A c.3913G>A (p.Glu1305Lys) c.463G>A (p.Glu155Lys) c.3814G>A (p.Glu1272Lys) c.3910G>A (p.Glu1304Lys) c.3760G>A (p.Glu1254Lys) | |
| 5 | g.128335231T>A | CA446310067 | FBN2 | n.696A>T n.777A>T c.3912A>T (p.Gly1304=) c.462A>T (p.Gly154=) c.3813A>T (p.Gly1271=) c.3909A>T (p.Gly1303=) c.3759A>T (p.Gly1253=) | |
| 5 | g.128335231T>C | CA446310068 | FBN2 | n.696A>G n.777A>G c.3912A>G (p.Gly1304=) c.462A>G (p.Gly154=) c.3813A>G (p.Gly1271=) c.3909A>G (p.Gly1303=) c.3759A>G (p.Gly1253=) | |
| 5 | g.128335231T>G | CA446310069 | FBN2 | n.696A>C n.777A>C c.3912A>C (p.Gly1304=) c.462A>C (p.Gly154=) c.3813A>C (p.Gly1271=) c.3909A>C (p.Gly1303=) c.3759A>C (p.Gly1253=) | |
| 5 | g.128335232C>A | CA360757424 | FBN2 | n.695G>T n.776G>T c.3911G>T (p.Gly1304Val) c.461G>T (p.Gly154Val) c.3812G>T (p.Gly1271Val) c.3908G>T (p.Gly1303Val) c.3758G>T (p.Gly1253Val) | gnomAD v4 |
| 5 | g.128335232C>G | CA360757425 | FBN2 | n.695G>C n.776G>C c.3911G>C (p.Gly1304Ala) c.461G>C (p.Gly154Ala) c.3812G>C (p.Gly1271Ala) c.3908G>C (p.Gly1303Ala) c.3758G>C (p.Gly1253Ala) | |
| 5 | g.128335232C>T | CA360757426 | FBN2 | n.695G>A n.776G>A c.3911G>A (p.Gly1304Glu) c.461G>A (p.Gly154Glu) c.3812G>A (p.Gly1271Glu) c.3908G>A (p.Gly1303Glu) c.3758G>A (p.Gly1253Glu) | |
| 5 | g.128335233C>A | CA360757429 | FBN2 | n.694G>T n.775G>T c.3910G>T (p.Gly1304Ter) c.460G>T (p.Gly154Ter) c.3811G>T (p.Gly1271Ter) c.3907G>T (p.Gly1303Ter) c.3757G>T (p.Gly1253Ter) | |
| 5 | g.128335233C= | CA1581269489 | FBN2 | n.694G= n.775G= c.3910G= (p.Gly1304=) c.460G= (p.Gly154=) c.3811G= (p.Gly1271=) c.3907G= (p.Gly1303=) c.3757G= (p.Gly1253=) | |
| 5 | g.128335233C>G | CA360757427 | FBN2 | n.694G>C n.775G>C c.3910G>C (p.Gly1304Arg) c.460G>C (p.Gly154Arg) c.3811G>C (p.Gly1271Arg) c.3907G>C (p.Gly1303Arg) c.3757G>C (p.Gly1253Arg) | |
| 5 | g.128335233C>T | CA360757428 | FBN2 | n.694G>A n.775G>A c.3910G>A (p.Gly1304Arg) c.460G>A (p.Gly154Arg) c.3811G>A (p.Gly1271Arg) c.3907G>A (p.Gly1303Arg) c.3757G>A (p.Gly1253Arg) | dbSNP gnomAD v4 |
| 5 | g.128335234A>C | CA446310070 | FBN2 | n.693T>G n.774T>G c.3909T>G (p.Pro1303=) c.459T>G (p.Pro153=) c.3810T>G (p.Pro1270=) c.3906T>G (p.Pro1302=) c.3756T>G (p.Pro1252=) | |
| 5 | g.128335234A>G | CA446310071 | FBN2 | n.693T>C n.774T>C c.3909T>C (p.Pro1303=) c.459T>C (p.Pro153=) c.3810T>C (p.Pro1270=) c.3906T>C (p.Pro1302=) c.3756T>C (p.Pro1252=) | ClinVar |
| 5 | g.128335234A>T | CA446310072 | FBN2 | n.693T>A n.774T>A c.3909T>A (p.Pro1303=) c.459T>A (p.Pro153=) c.3810T>A (p.Pro1270=) c.3906T>A (p.Pro1302=) c.3756T>A (p.Pro1252=) | |
| 5 | g.128335235G>A | CA3395103 | FBN2 | n.692C>T n.773C>T c.3908C>T (p.Pro1303Leu) c.458C>T (p.Pro153Leu) c.3809C>T (p.Pro1270Leu) c.3905C>T (p.Pro1302Leu) c.3755C>T (p.Pro1252Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335235G>C | CA360757430 | FBN2 | n.692C>G n.773C>G c.3908C>G (p.Pro1303Arg) c.458C>G (p.Pro153Arg) c.3809C>G (p.Pro1270Arg) c.3905C>G (p.Pro1302Arg) c.3755C>G (p.Pro1252Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128335235G= | CA1581269490 | FBN2 | n.692C= n.773C= c.3908C= (p.Pro1303=) c.458C= (p.Pro153=) c.3809C= (p.Pro1270=) c.3905C= (p.Pro1302=) c.3755C= (p.Pro1252=) | |
| 5 | g.128335235G>T | CA360757431 | FBN2 | n.692C>A n.773C>A c.3908C>A (p.Pro1303His) c.458C>A (p.Pro153His) c.3809C>A (p.Pro1270His) c.3905C>A (p.Pro1302His) c.3755C>A (p.Pro1252His) | gnomAD v4 |
| 5 | g.128335236G>A | CA360757432 | FBN2 | n.691C>T n.772C>T c.3907C>T (p.Pro1303Ser) c.457C>T (p.Pro153Ser) c.3808C>T (p.Pro1270Ser) c.3904C>T (p.Pro1302Ser) c.3754C>T (p.Pro1252Ser) | |
| 5 | g.128335236G>C | CA360757433 | FBN2 | n.691C>G n.772C>G c.3907C>G (p.Pro1303Ala) c.457C>G (p.Pro153Ala) c.3808C>G (p.Pro1270Ala) c.3904C>G (p.Pro1302Ala) c.3754C>G (p.Pro1252Ala) | |
| 5 | g.128335236G>T | CA360757434 | FBN2 | n.691C>A n.772C>A c.3907C>A (p.Pro1303Thr) c.457C>A (p.Pro153Thr) c.3808C>A (p.Pro1270Thr) c.3904C>A (p.Pro1302Thr) c.3754C>A (p.Pro1252Thr) | ClinVar dbSNP |
| 5 | g.128335237A= | CA1581269491 | FBN2 | n.690T= n.771T= c.3906T= (p.Ile1302=) c.456T= (p.Ile152=) c.3807T= (p.Ile1269=) c.3903T= (p.Ile1301=) c.3753T= (p.Ile1251=) | |
| 5 | g.128335237A>C | CA360757435 | FBN2 | n.690T>G n.771T>G c.3906T>G (p.Ile1302Met) c.456T>G (p.Ile152Met) c.3807T>G (p.Ile1269Met) c.3903T>G (p.Ile1301Met) c.3753T>G (p.Ile1251Met) | gnomAD v4 |
| 5 | g.128335237A>G | CA446310074 | FBN2 | n.690T>C n.771T>C c.3906T>C (p.Ile1302=) c.456T>C (p.Ile152=) c.3807T>C (p.Ile1269=) c.3903T>C (p.Ile1301=) c.3753T>C (p.Ile1251=) | |
| 5 | g.128335237A>T | CA446310073 | FBN2 | n.690T>A n.771T>A c.3906T>A (p.Ile1302=) c.456T>A (p.Ile152=) c.3807T>A (p.Ile1269=) c.3903T>A (p.Ile1301=) c.3753T>A (p.Ile1251=) | |
| 5 | g.128335238A>C | CA360757436 | FBN2 | n.689T>G n.770T>G c.3905T>G (p.Ile1302Ser) c.455T>G (p.Ile152Ser) c.3806T>G (p.Ile1269Ser) c.3902T>G (p.Ile1301Ser) c.3752T>G (p.Ile1251Ser) | |
| 5 | g.128335238A>G | CA360757437 | FBN2 | n.689T>C n.770T>C c.3905T>C (p.Ile1302Thr) c.455T>C (p.Ile152Thr) c.3806T>C (p.Ile1269Thr) c.3902T>C (p.Ile1301Thr) c.3752T>C (p.Ile1251Thr) | |
| 5 | g.128335238A>T | CA360757438 | FBN2 | n.689T>A n.770T>A c.3905T>A (p.Ile1302Asn) c.455T>A (p.Ile152Asn) c.3806T>A (p.Ile1269Asn) c.3902T>A (p.Ile1301Asn) c.3752T>A (p.Ile1251Asn) | |
| 5 | g.128335238_128335240dup | CA803636700 | FBN2 | n.687_689dup n.768_770dup c.3903_3905dup (p.Ile1302_Pro1303insIle) c.453_455dup (p.Ile152_Pro153insIle) c.3804_3806dup (p.Ile1269_Pro1270insIle) c.3900_3902dup (p.Ile1301_Pro1302insIle) c.3750_3752dup (p.Ile1251_Pro1252insIle) | dbSNP |
| 5 | g.128335239T>A | CA360757440 | FBN2 | n.688A>T n.769A>T c.3904A>T (p.Ile1302Phe) c.454A>T (p.Ile152Phe) c.3805A>T (p.Ile1269Phe) c.3901A>T (p.Ile1301Phe) c.3751A>T (p.Ile1251Phe) | |
| 5 | g.128335239T>C | CA360757441 | FBN2 | n.688A>G n.769A>G c.3904A>G (p.Ile1302Val) c.454A>G (p.Ile152Val) c.3805A>G (p.Ile1269Val) c.3901A>G (p.Ile1301Val) c.3751A>G (p.Ile1251Val) | |
| 5 | g.128335239T>G | CA360757439 | FBN2 | n.688A>C n.769A>C c.3904A>C (p.Ile1302Leu) c.454A>C (p.Ile152Leu) c.3805A>C (p.Ile1269Leu) c.3901A>C (p.Ile1301Leu) c.3751A>C (p.Ile1251Leu) | |
| 5 | g.128335240G>A | CA446310075 | FBN2 | n.687C>T n.768C>T c.3903C>T (p.Asn1301=) c.453C>T (p.Asn151=) c.3804C>T (p.Asn1268=) c.3900C>T (p.Asn1300=) c.3750C>T (p.Asn1250=) | gnomAD v4 |
| 5 | g.128335240G>C | CA360757442 | FBN2 | n.687C>G n.768C>G c.3903C>G (p.Asn1301Lys) c.453C>G (p.Asn151Lys) c.3804C>G (p.Asn1268Lys) c.3900C>G (p.Asn1300Lys) c.3750C>G (p.Asn1250Lys) | |
| 5 | g.128335240G>T | CA360757443 | FBN2 | n.687C>A n.768C>A c.3903C>A (p.Asn1301Lys) c.453C>A (p.Asn151Lys) c.3804C>A (p.Asn1268Lys) c.3900C>A (p.Asn1300Lys) c.3750C>A (p.Asn1250Lys) | |
| 5 | g.128335241T>A | CA360757444 | FBN2 | n.686A>T n.767A>T c.3902A>T (p.Asn1301Ile) c.452A>T (p.Asn151Ile) c.3803A>T (p.Asn1268Ile) c.3899A>T (p.Asn1300Ile) c.3749A>T (p.Asn1250Ile) | |
| 5 | g.128335241T>C | CA360757445 | FBN2 | n.686A>G n.767A>G c.3902A>G (p.Asn1301Ser) c.452A>G (p.Asn151Ser) c.3803A>G (p.Asn1268Ser) c.3899A>G (p.Asn1300Ser) c.3749A>G (p.Asn1250Ser) | ClinVar dbSNP gnomAD v4 |
| 5 | g.128335241T>G | CA127008443 | FBN2 | n.686A>C n.767A>C c.3902A>C (p.Asn1301Thr) c.452A>C (p.Asn151Thr) c.3803A>C (p.Asn1268Thr) c.3899A>C (p.Asn1300Thr) c.3749A>C (p.Asn1250Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128335241T= | CA1581269492 | FBN2 | n.686A= n.767A= c.3902A= (p.Asn1301=) c.452A= (p.Asn151=) c.3803A= (p.Asn1268=) c.3899A= (p.Asn1300=) c.3749A= (p.Asn1250=) | |
| 5 | g.128335242T>A | CA360757446 | FBN2 | n.685A>T n.766A>T c.3901A>T (p.Asn1301Tyr) c.451A>T (p.Asn151Tyr) c.3802A>T (p.Asn1268Tyr) c.3898A>T (p.Asn1300Tyr) c.3748A>T (p.Asn1250Tyr) | |
| 5 | g.128335242T>C | CA360757447 | FBN2 | n.685A>G n.766A>G c.3901A>G (p.Asn1301Asp) c.451A>G (p.Asn151Asp) c.3802A>G (p.Asn1268Asp) c.3898A>G (p.Asn1300Asp) c.3748A>G (p.Asn1250Asp) | |
| 5 | g.128335242T>G | CA360757448 | FBN2 | n.685A>C n.766A>C c.3901A>C (p.Asn1301His) c.451A>C (p.Asn151His) c.3802A>C (p.Asn1268His) c.3898A>C (p.Asn1300His) c.3748A>C (p.Asn1250His) | |
| 5 | g.128335243G>A | CA446310076 | FBN2 | n.684C>T n.765C>T c.3900C>T (p.Thr1300=) c.450C>T (p.Thr150=) c.3801C>T (p.Thr1267=) c.3897C>T (p.Thr1299=) c.3747C>T (p.Thr1249=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.128335243G>C | CA3395104 | FBN2 | n.684C>G n.765C>G c.3900C>G (p.Thr1300=) c.450C>G (p.Thr150=) c.3801C>G (p.Thr1267=) c.3897C>G (p.Thr1299=) c.3747C>G (p.Thr1249=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335243G= | CA1581269493 | FBN2 | n.684C= n.765C= c.3900C= (p.Thr1300=) c.450C= (p.Thr150=) c.3801C= (p.Thr1267=) c.3897C= (p.Thr1299=) c.3747C= (p.Thr1249=) | |
| 5 | g.128335243G>T | CA446310077 | FBN2 | n.684C>A n.765C>A c.3900C>A (p.Thr1300=) c.450C>A (p.Thr150=) c.3801C>A (p.Thr1267=) c.3897C>A (p.Thr1299=) c.3747C>A (p.Thr1249=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335244G>A | CA360757449 | FBN2 | n.683C>T n.764C>T c.3899C>T (p.Thr1300Ile) c.449C>T (p.Thr150Ile) c.3800C>T (p.Thr1267Ile) c.3896C>T (p.Thr1299Ile) c.3746C>T (p.Thr1249Ile) | gnomAD v4 |
| 5 | g.128335244G>C | CA360757450 | FBN2 | n.683C>G n.764C>G c.3899C>G (p.Thr1300Ser) c.449C>G (p.Thr150Ser) c.3800C>G (p.Thr1267Ser) c.3896C>G (p.Thr1299Ser) c.3746C>G (p.Thr1249Ser) | gnomAD v4 |
| 5 | g.128335244G>T | CA360757451 | FBN2 | n.683C>A n.764C>A c.3899C>A (p.Thr1300Asn) c.449C>A (p.Thr150Asn) c.3800C>A (p.Thr1267Asn) c.3896C>A (p.Thr1299Asn) c.3746C>A (p.Thr1249Asn) | |
| 5 | g.128335245T>A | CA360757453 | FBN2 | n.682A>T n.763A>T c.3898A>T (p.Thr1300Ser) c.448A>T (p.Thr150Ser) c.3799A>T (p.Thr1267Ser) c.3895A>T (p.Thr1299Ser) c.3745A>T (p.Thr1249Ser) | |
| 5 | g.128335245T>C | CA360757454 | FBN2 | n.682A>G n.763A>G c.3898A>G (p.Thr1300Ala) c.448A>G (p.Thr150Ala) c.3799A>G (p.Thr1267Ala) c.3895A>G (p.Thr1299Ala) c.3745A>G (p.Thr1249Ala) | |
| 5 | g.128335245T>G | CA360757452 | FBN2 | n.682A>C n.763A>C c.3898A>C (p.Thr1300Pro) c.448A>C (p.Thr150Pro) c.3799A>C (p.Thr1267Pro) c.3895A>C (p.Thr1299Pro) c.3745A>C (p.Thr1249Pro) | |
| 5 | g.128335246A= | CA1581269494 | FBN2 | n.681T= n.762T= c.3897T= (p.Cys1299=) c.447T= (p.Cys149=) c.3798T= (p.Cys1266=) c.3894T= (p.Cys1298=) c.3744T= (p.Cys1248=) | |
| 5 | g.128335246A>C | CA360757455 | FBN2 | n.681T>G n.762T>G c.3897T>G (p.Cys1299Trp) c.447T>G (p.Cys149Trp) c.3798T>G (p.Cys1266Trp) c.3894T>G (p.Cys1298Trp) c.3744T>G (p.Cys1248Trp) | dbSNP |
| 5 | g.128335246A>G | CA446310078 | FBN2 | n.681T>C n.762T>C c.3897T>C (p.Cys1299=) c.447T>C (p.Cys149=) c.3798T>C (p.Cys1266=) c.3894T>C (p.Cys1298=) c.3744T>C (p.Cys1248=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128335246A>T | CA360757456 | FBN2 | n.681T>A n.762T>A c.3897T>A (p.Cys1299Ter) c.447T>A (p.Cys149Ter) c.3798T>A (p.Cys1266Ter) c.3894T>A (p.Cys1298Ter) c.3744T>A (p.Cys1248Ter) | |
| 5 | g.128335247C>A | CA360757457 | FBN2 | n.680G>T n.761G>T c.3896G>T (p.Cys1299Phe) c.446G>T (p.Cys149Phe) c.3797G>T (p.Cys1266Phe) c.3893G>T (p.Cys1298Phe) c.3743G>T (p.Cys1248Phe) | |
| 5 | g.128335247C>G | CA360757458 | FBN2 | n.680G>C n.761G>C c.3896G>C (p.Cys1299Ser) c.446G>C (p.Cys149Ser) c.3797G>C (p.Cys1266Ser) c.3893G>C (p.Cys1298Ser) c.3743G>C (p.Cys1248Ser) | |
| 5 | g.128335247C>T | CA360757459 | FBN2 | n.680G>A n.761G>A c.3896G>A (p.Cys1299Tyr) c.446G>A (p.Cys149Tyr) c.3797G>A (p.Cys1266Tyr) c.3893G>A (p.Cys1298Tyr) c.3743G>A (p.Cys1248Tyr) | |
| 5 | g.128335248A>C | CA360757462 | FBN2 | n.679T>G n.760T>G c.3895T>G (p.Cys1299Gly) c.445T>G (p.Cys149Gly) c.3796T>G (p.Cys1266Gly) c.3892T>G (p.Cys1298Gly) c.3742T>G (p.Cys1248Gly) | |
| 5 | g.128335248A>G | CA360757460 | FBN2 | n.679T>C n.760T>C c.3895T>C (p.Cys1299Arg) c.445T>C (p.Cys149Arg) c.3796T>C (p.Cys1266Arg) c.3892T>C (p.Cys1298Arg) c.3742T>C (p.Cys1248Arg) | |
| 5 | g.128335248A>T | CA360757461 | FBN2 | n.679T>A n.760T>A c.3895T>A (p.Cys1299Ser) c.445T>A (p.Cys149Ser) c.3796T>A (p.Cys1266Ser) c.3892T>A (p.Cys1298Ser) c.3742T>A (p.Cys1248Ser) | |
| 5 | g.128335249C>A | CA360757463 | FBN2 | n.678G>T n.759G>T c.3894G>T (p.Gln1298His) c.444G>T (p.Gln148His) c.3795G>T (p.Gln1265His) c.3891G>T (p.Gln1297His) c.3741G>T (p.Gln1247His) | |
| 5 | g.128335249C>G | CA360757464 | FBN2 | n.678G>C n.759G>C c.3894G>C (p.Gln1298His) c.444G>C (p.Gln148His) c.3795G>C (p.Gln1265His) c.3891G>C (p.Gln1297His) c.3741G>C (p.Gln1247His) | COSMIC COSMIC |
| 5 | g.128335249C>T | CA446310079 | FBN2 | n.678G>A n.759G>A c.3894G>A (p.Gln1298=) c.444G>A (p.Gln148=) c.3795G>A (p.Gln1265=) c.3891G>A (p.Gln1297=) c.3741G>A (p.Gln1247=) | |
| 5 | g.128335250T>A | CA360757465 | FBN2 | n.677A>T n.758A>T c.3893A>T (p.Gln1298Leu) c.443A>T (p.Gln148Leu) c.3794A>T (p.Gln1265Leu) c.3890A>T (p.Gln1297Leu) c.3740A>T (p.Gln1247Leu) | |
| 5 | g.128335250T>C | CA360757466 | FBN2 | n.677A>G n.758A>G c.3893A>G (p.Gln1298Arg) c.443A>G (p.Gln148Arg) c.3794A>G (p.Gln1265Arg) c.3890A>G (p.Gln1297Arg) c.3740A>G (p.Gln1247Arg) | |
| 5 | g.128335250T>G | CA360757467 | FBN2 | n.677A>C n.758A>C c.3893A>C (p.Gln1298Pro) c.443A>C (p.Gln148Pro) c.3794A>C (p.Gln1265Pro) c.3890A>C (p.Gln1297Pro) c.3740A>C (p.Gln1247Pro) | gnomAD v4 |
| 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=) | 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 |