WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128335205C>A | CA360757363 | FBN2 | n.722G>T n.803G>T c.3938G>T (p.Gly1313Val) c.488G>T (p.Gly163Val) c.3839G>T (p.Gly1280Val) c.3935G>T (p.Gly1312Val) c.3785G>T (p.Gly1262Val) | |
| 5 | g.128335205C>G | CA360757364 | FBN2 | n.722G>C n.803G>C c.3938G>C (p.Gly1313Ala) c.488G>C (p.Gly163Ala) c.3839G>C (p.Gly1280Ala) c.3935G>C (p.Gly1312Ala) c.3785G>C (p.Gly1262Ala) | |
| 5 | g.128335205C>T | CA360757365 | FBN2 | n.722G>A n.803G>A c.3938G>A (p.Gly1313Asp) c.488G>A (p.Gly163Asp) c.3839G>A (p.Gly1280Asp) c.3935G>A (p.Gly1312Asp) c.3785G>A (p.Gly1262Asp) | gnomAD v4 |
| 5 | g.128335206C>A | CA360757366 | FBN2 | n.721G>T n.802G>T c.3937G>T (p.Gly1313Cys) c.487G>T (p.Gly163Cys) c.3838G>T (p.Gly1280Cys) c.3934G>T (p.Gly1312Cys) c.3784G>T (p.Gly1262Cys) | |
| 5 | g.128335206C>G | CA360757367 | FBN2 | n.721G>C n.802G>C c.3937G>C (p.Gly1313Arg) c.487G>C (p.Gly163Arg) c.3838G>C (p.Gly1280Arg) c.3934G>C (p.Gly1312Arg) c.3784G>C (p.Gly1262Arg) | |
| 5 | g.128335206C>T | CA360757368 | FBN2 | n.721G>A n.802G>A c.3937G>A (p.Gly1313Ser) c.487G>A (p.Gly163Ser) c.3838G>A (p.Gly1280Ser) c.3934G>A (p.Gly1312Ser) c.3784G>A (p.Gly1262Ser) | |
| 5 | g.128335207A>C | CA360757369 | FBN2 | n.720T>G n.801T>G c.3936T>G (p.Asp1312Glu) c.486T>G (p.Asp162Glu) c.3837T>G (p.Asp1279Glu) c.3933T>G (p.Asp1311Glu) c.3783T>G (p.Asp1261Glu) | gnomAD v4 |
| 5 | g.128335207A>G | CA446310056 | FBN2 | n.720T>C n.801T>C c.3936T>C (p.Asp1312=) c.486T>C (p.Asp162=) c.3837T>C (p.Asp1279=) c.3933T>C (p.Asp1311=) c.3783T>C (p.Asp1261=) | |
| 5 | g.128335207A>T | CA360757370 | FBN2 | n.720T>A n.801T>A c.3936T>A (p.Asp1312Glu) c.486T>A (p.Asp162Glu) c.3837T>A (p.Asp1279Glu) c.3933T>A (p.Asp1311Glu) c.3783T>A (p.Asp1261Glu) | |
| 5 | g.128335208T>A | CA360757373 | FBN2 | n.719A>T n.800A>T c.3935A>T (p.Asp1312Val) c.485A>T (p.Asp162Val) c.3836A>T (p.Asp1279Val) c.3932A>T (p.Asp1311Val) c.3782A>T (p.Asp1261Val) | gnomAD v4 |
| 5 | g.128335208T>C | CA360757371 | FBN2 | n.719A>G n.800A>G c.3935A>G (p.Asp1312Gly) c.485A>G (p.Asp162Gly) c.3836A>G (p.Asp1279Gly) c.3932A>G (p.Asp1311Gly) c.3782A>G (p.Asp1261Gly) | |
| 5 | g.128335208T>G | CA360757372 | FBN2 | n.719A>C n.800A>C c.3935A>C (p.Asp1312Ala) c.485A>C (p.Asp162Ala) c.3836A>C (p.Asp1279Ala) c.3932A>C (p.Asp1311Ala) c.3782A>C (p.Asp1261Ala) | |
| 5 | g.128335209C>A | CA360757374 | FBN2 | n.718G>T n.799G>T c.3934G>T (p.Asp1312Tyr) c.484G>T (p.Asp162Tyr) c.3835G>T (p.Asp1279Tyr) c.3931G>T (p.Asp1311Tyr) c.3781G>T (p.Asp1261Tyr) | |
| 5 | g.128335209C>G | CA360757375 | FBN2 | n.718G>C n.799G>C c.3934G>C (p.Asp1312His) c.484G>C (p.Asp162His) c.3835G>C (p.Asp1279His) c.3931G>C (p.Asp1311His) c.3781G>C (p.Asp1261His) | |
| 5 | g.128335209C>T | CA360757376 | FBN2 | n.718G>A n.799G>A c.3934G>A (p.Asp1312Asn) c.484G>A (p.Asp162Asn) c.3835G>A (p.Asp1279Asn) c.3931G>A (p.Asp1311Asn) c.3781G>A (p.Asp1261Asn) | |
| 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) |