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 |
|---|---|---|---|---|---|
| 15 | g.48526165C>A | CA060398 | FBN1 | c.953G>T (p.Gly318Val) c.636+11546G>T (n.636+11546G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526165C= | CA2175543026 | FBN1 | c.953G= (p.Gly318=) c.636+11546G= (n.636+11546G=) | |
| 15 | g.48526165C>G | CA392349819 | FBN1 | c.953G>C (p.Gly318Ala) c.636+11546G>C (n.636+11546G>C) | |
| 15 | g.48526165C>T | CA392349816 | FBN1 | c.953G>A (p.Gly318Asp) c.636+11546G>A (n.636+11546G>A) | gnomAD v4 |
| 15 | g.48526166del | CA2580089616 | FBN1 | c.953del (p.Gly318ValfsTer12) c.636+11546del (n.636+11546del) | ClinVar |
| 15 | g.48526166C>A | CA392349822 | FBN1 | c.952G>T (p.Gly318Cys) c.636+11545G>T (n.636+11545G>T) | |
| 15 | g.48526166C>G | CA392349823 | FBN1 | c.952G>C (p.Gly318Arg) c.636+11545G>C (n.636+11545G>C) | |
| 15 | g.48526166C>T | CA392349824 | FBN1 | c.952G>A (p.Gly318Ser) c.636+11545G>A (n.636+11545G>A) | |
| 15 | g.48526167A>C | CA490028582 | FBN1 | c.951T>G (p.Pro317=) c.636+11544T>G (n.636+11544T>G) | |
| 15 | g.48526167A>G | CA490028584 | FBN1 | c.951T>C (p.Pro317=) c.636+11544T>C (n.636+11544T>C) | gnomAD v4 |
| 15 | g.48526167A>T | CA490028583 | FBN1 | c.951T>A (p.Pro317=) c.636+11544T>A (n.636+11544T>A) | |
| 15 | g.48526167_48526168delinsAG | CA2175543028 | FBN1 | c.950_951delinsCT (p.Pro317=) c.636+11543_636+11544delinsCT (n.636+11543_636+11544delinsCT) | |
| 15 | g.48526168G>A | CA392349826 | FBN1 | c.950C>T (p.Pro317Leu) c.636+11543C>T (n.636+11543C>T) | gnomAD v4 |
| 15 | g.48526168G>C | CA392349841 | FBN1 | c.950C>G (p.Pro317Arg) c.636+11543C>G (n.636+11543C>G) | |
| 15 | g.48526168G>T | CA392349842 | FBN1 | c.950C>A (p.Pro317His) c.636+11543C>A (n.636+11543C>A) | |
| 15 | g.48526172dup | CA2695220353 | FBN1 | c.950dup (p.Gly318TrpfsTer30) c.636+11543dup (n.636+11543dup) | |
| 15 | g.48526172del | CA913191218 | FBN1 | c.950del (p.Pro317LeufsTer13) c.636+11543del (n.636+11543del) | ClinVar dbSNP |
| 15 | g.48526171_48526172del | CA2730614114 | FBN1 | c.949_950del (p.Pro317TrpfsTer30) c.636+11542_636+11543del (n.636+11542_636+11543del) | dbSNP |
| 15 | g.48526169G>A | CA060391 | FBN1 | c.949C>T (p.Pro317Ser) c.636+11542C>T (n.636+11542C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526169G>C | CA392349844 | FBN1 | c.949C>G (p.Pro317Ala) c.636+11542C>G (n.636+11542C>G) | |
| 15 | g.48526169G= | CA2175543034 | FBN1 | c.949C= (p.Pro317=) c.636+11542C= (n.636+11542C=) | |
| 15 | g.48526169G>T | CA392349847 | FBN1 | c.949C>A (p.Pro317Thr) c.636+11542C>A (n.636+11542C>A) | |
| 15 | g.48526170G>A | CA490028585 | FBN1 | c.948C>T (p.Pro316=) c.636+11541C>T (n.636+11541C>T) | |
| 15 | g.48526170G>C | CA490028586 | FBN1 | c.948C>G (p.Pro316=) c.636+11541C>G (n.636+11541C>G) | ClinVar dbSNP |
| 15 | g.48526170G>T | CA490028587 | FBN1 | c.948C>A (p.Pro316=) c.636+11541C>A (n.636+11541C>A) | ClinVar |
| 15 | g.48526171G>A | CA392349851 | FBN1 | c.947C>T (p.Pro316Leu) c.636+11540C>T (n.636+11540C>T) | ClinVar |
| 15 | g.48526171G>C | CA392349854 | FBN1 | c.947C>G (p.Pro316Arg) c.636+11540C>G (n.636+11540C>G) | |
| 15 | g.48526171G= | CA2175543038 | FBN1 | c.947C= (p.Pro316=) c.636+11540C= (n.636+11540C=) | |
| 15 | g.48526171G>T | CA060387 | FBN1 | c.947C>A (p.Pro316His) c.636+11540C>A (n.636+11540C>A) | ClinVar dbSNP ExAC gnomAD v2 |
| 15 | g.48526171_48526172insACCT | CA2527626786 | FBN1 | c.946_947insAGGT (p.Pro316GlnfsTer?) c.636+11539_636+11540insAGGT (n.636+11539_636+11540insAGGT) | |
| 15 | g.48526172G>A | CA060383 | FBN1 | c.946C>T (p.Pro316Ser) c.636+11539C>T (n.636+11539C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526172G>C | CA392349864 | FBN1 | c.946C>G (p.Pro316Ala) c.636+11539C>G (n.636+11539C>G) | dbSNP gnomAD v4 |
| 15 | g.48526172G= | CA2175543040 | FBN1 | c.946C= (p.Pro316=) c.636+11539C= (n.636+11539C=) | |
| 15 | g.48526172G>T | CA392349867 | FBN1 | c.946C>A (p.Pro316Thr) c.636+11539C>A (n.636+11539C>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48526173del | CA2573150795 | FBN1 | c.945del (p.Pro317LeufsTer13) c.636+11538del (n.636+11538del) | ClinVar dbSNP |
| 15 | g.48526173A= | CA2175543044 | FBN1 | c.945T= (p.Cys315=) c.636+11538T= (n.636+11538T=) | |
| 15 | g.48526173A>C | CA392349873 | FBN1 | c.945T>G (p.Cys315Trp) c.636+11538T>G (n.636+11538T>G) | |
| 15 | g.48526173A>G | CA490028588 | FBN1 | c.945T>C (p.Cys315=) c.636+11538T>C (n.636+11538T>C) | |
| 15 | g.48526173A>T | CA392349879 | FBN1 | c.945T>A (p.Cys315Ter) c.636+11538T>A (n.636+11538T>A) | ClinVar dbSNP |
| 15 | g.48526174C>A | CA392349885 | FBN1 | c.944G>T (p.Cys315Phe) c.636+11537G>T (n.636+11537G>T) | |
| 15 | g.48526174C>G | CA392349887 | FBN1 | c.944G>C (p.Cys315Ser) c.636+11537G>C (n.636+11537G>C) | |
| 15 | g.48526174C>T | CA392349891 | FBN1 | c.944G>A (p.Cys315Tyr) c.636+11537G>A (n.636+11537G>A) | |
| 15 | g.48526175A>C | CA392349896 | FBN1 | c.943T>G (p.Cys315Gly) c.636+11536T>G (n.636+11536T>G) | |
| 15 | g.48526175A>G | CA392349900 | FBN1 | c.943T>C (p.Cys315Arg) c.636+11536T>C (n.636+11536T>C) | ClinVar gnomAD v4 |
| 15 | g.48526175A>T | CA392349903 | FBN1 | c.943T>A (p.Cys315Ser) c.636+11536T>A (n.636+11536T>A) | |
| 15 | g.48526176T>A | CA392349907 | FBN1 | c.942A>T (p.Lys314Asn) c.636+11535A>T (n.636+11535A>T) | |
| 15 | g.48526176T>C | CA060380 | FBN1 | c.942A>G (p.Lys314=) c.636+11535A>G (n.636+11535A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526176T>G | CA392349916 | FBN1 | c.942A>C (p.Lys314Asn) c.636+11535A>C (n.636+11535A>C) | |
| 15 | g.48526176T= | CA2175543049 | FBN1 | c.942A= (p.Lys314=) c.636+11535A= (n.636+11535A=) | |
| 15 | g.48526178del | CA2695220354 | FBN1 | c.942del (p.Lys314AsnfsTer16) c.636+11535del (n.636+11535del) | |
| 15 | g.48526177T>A | CA392349929 | FBN1 | c.941A>T (p.Lys314Ile) c.636+11534A>T (n.636+11534A>T) | |
| 15 | g.48526177T>C | CA392349924 | FBN1 | c.941A>G (p.Lys314Arg) c.636+11534A>G (n.636+11534A>G) | |
| 15 | g.48526177T>G | CA392349921 | FBN1 | c.941A>C (p.Lys314Thr) c.636+11534A>C (n.636+11534A>C) | |
| 15 | g.48526178T>A | CA392349931 | FBN1 | c.940A>T (p.Lys314Ter) c.636+11533A>T (n.636+11533A>T) | |
| 15 | g.48526178T>C | CA392349938 | FBN1 | c.940A>G (p.Lys314Glu) c.636+11533A>G (n.636+11533A>G) | |
| 15 | g.48526178T>G | CA392349942 | FBN1 | c.940A>C (p.Lys314Gln) c.636+11533A>C (n.636+11533A>C) | |
| 15 | g.48526179G>A | CA490028589 | FBN1 | c.939C>T (p.Cys313=) c.636+11532C>T (n.636+11532C>T) | |
| 15 | g.48526179G>C | CA392349947 | FBN1 | c.939C>G (p.Cys313Trp) c.636+11532C>G (n.636+11532C>G) | ClinVar dbSNP |
| 15 | g.48526179G= | CA2175543057 | FBN1 | c.939C= (p.Cys313=) c.636+11532C= (n.636+11532C=) | |
| 15 | g.48526179G>T | CA392349953 | FBN1 | c.939C>A (p.Cys313Ter) c.636+11532C>A (n.636+11532C>A) | |
| 15 | g.48526180C>A | CA392349956 | FBN1 | c.938G>T (p.Cys313Phe) c.636+11531G>T (n.636+11531G>T) | ClinVar dbSNP |
| 15 | g.48526180C>G | CA392349958 | FBN1 | c.938G>C (p.Cys313Ser) c.636+11531G>C (n.636+11531G>C) | COSMIC |
| 15 | g.48526180C>T | CA392349963 | FBN1 | c.938G>A (p.Cys313Tyr) c.636+11531G>A (n.636+11531G>A) | |
| 15 | g.48526181A>C | CA392349969 | FBN1 | c.937T>G (p.Cys313Gly) c.636+11530T>G (n.636+11530T>G) | |
| 15 | g.48526181A>G | CA392349970 | FBN1 | c.937T>C (p.Cys313Arg) c.636+11530T>C (n.636+11530T>C) | ClinVar dbSNP |
| 15 | g.48526181A>T | CA392349973 | FBN1 | c.937T>A (p.Cys313Ser) c.636+11530T>A (n.636+11530T>A) | |
| 15 | g.48526181_48526184dup | CA2695220356 | FBN1 | c.934_937dup (p.Cys313PhefsTer?) c.636+11527_636+11530dup (n.636+11527_636+11530dup) | |
| 15 | g.48526184del | CA2695220355 | FBN1 | c.937del (p.Cys313AlafsTer17) c.636+11530del (n.636+11530del) | |
| 15 | g.48526182A= | CA2175543059 | FBN1 | c.936T= (p.Phe312=) c.636+11529T= (n.636+11529T=) | |
| 15 | g.48526182A>C | CA392349977 | FBN1 | c.936T>G (p.Phe312Leu) c.636+11529T>G (n.636+11529T>G) | |
| 15 | g.48526182A>G | CA490028590 | FBN1 | c.936T>C (p.Phe312=) c.636+11529T>C (n.636+11529T>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48526182A>T | CA392349980 | FBN1 | c.936T>A (p.Phe312Leu) c.636+11529T>A (n.636+11529T>A) | |
| 15 | g.48526183A>C | CA392350000 | FBN1 | c.935T>G (p.Phe312Cys) c.636+11528T>G (n.636+11528T>G) | |
| 15 | g.48526183A>G | CA392349985 | FBN1 | c.935T>C (p.Phe312Ser) c.636+11528T>C (n.636+11528T>C) | |
| 15 | g.48526183A>T | CA392349990 | FBN1 | c.935T>A (p.Phe312Tyr) c.636+11528T>A (n.636+11528T>A) | |
| 15 | g.48526184A= | CA2175543061 | FBN1 | c.934T= (p.Phe312=) c.636+11527T= (n.636+11527T=) | |
| 15 | g.48526184A>C | CA392350007 | FBN1 | c.934T>G (p.Phe312Val) c.636+11527T>G (n.636+11527T>G) | |
| 15 | g.48526184A>G | CA392350011 | FBN1 | c.934T>C (p.Phe312Leu) c.636+11527T>C (n.636+11527T>C) | ClinVar dbSNP |
| 15 | g.48526184A>T | CA392350013 | FBN1 | c.934T>A (p.Phe312Ile) c.636+11527T>A (n.636+11527T>A) | |
| 15 | g.48526185G>A | CA490028591 | FBN1 | c.933C>T (p.Tyr311=) c.636+11526C>T (n.636+11526C>T) | |
| 15 | g.48526185G>C | CA392350020 | FBN1 | c.933C>G (p.Tyr311Ter) c.636+11526C>G (n.636+11526C>G) | ClinVar dbSNP |
| 15 | g.48526185G>T | CA392350023 | FBN1 | c.933C>A (p.Tyr311Ter) c.636+11526C>A (n.636+11526C>A) | |
| 15 | g.48526186T>A | CA392350028 | FBN1 | c.932A>T (p.Tyr311Phe) c.636+11525A>T (n.636+11525A>T) | |
| 15 | g.48526186T>C | CA392350029 | FBN1 | c.932A>G (p.Tyr311Cys) c.636+11525A>G (n.636+11525A>G) | |
| 15 | g.48526186T>G | CA392350030 | FBN1 | c.932A>C (p.Tyr311Ser) c.636+11525A>C (n.636+11525A>C) | |
| 15 | g.48526187_48526190del | CA2695220357 | FBN1 | c.929_932del (p.Ser310ThrfsTer19) c.636+11522_636+11525del (n.636+11522_636+11525del) | |
| 15 | g.48526187A>C | CA392350031 | FBN1 | c.931T>G (p.Tyr311Asp) c.636+11524T>G (n.636+11524T>G) | |
| 15 | g.48526187A>G | CA392350034 | FBN1 | c.931T>C (p.Tyr311His) c.636+11524T>C (n.636+11524T>C) | |
| 15 | g.48526187A>T | CA392350037 | FBN1 | c.931T>A (p.Tyr311Asn) c.636+11524T>A (n.636+11524T>A) | |
| 15 | g.48526188dup | CA2695220358 | FBN1 | c.931dup (p.Tyr311LeufsTer?) c.636+11524dup (n.636+11524dup) | |
| 15 | g.48526188A>C | CA392350041 | FBN1 | c.930T>G (p.Ser310Arg) c.636+11523T>G (n.636+11523T>G) | |
| 15 | g.48526188A>G | CA490028592 | FBN1 | c.930T>C (p.Ser310=) c.636+11523T>C (n.636+11523T>C) | |
| 15 | g.48526188A>T | CA392350044 | FBN1 | c.930T>A (p.Ser310Arg) c.636+11523T>A (n.636+11523T>A) | |
| 15 | g.48526189C>A | CA392350051 | FBN1 | c.929G>T (p.Ser310Ile) c.636+11522G>T (n.636+11522G>T) | |
| 15 | g.48526189C= | CA2175543064 | FBN1 | c.929G= (p.Ser310=) c.636+11522G= (n.636+11522G=) | |
| 15 | g.48526189C>G | CA392350054 | FBN1 | c.929G>C (p.Ser310Thr) c.636+11522G>C (n.636+11522G>C) | ClinVar |
| 15 | g.48526189C>T | CA392350049 | FBN1 | c.929G>A (p.Ser310Asn) c.636+11522G>A (n.636+11522G>A) | dbSNP |
| 15 | g.48526190T>A | CA392350057 | FBN1 | c.928A>T (p.Ser310Cys) c.636+11521A>T (n.636+11521A>T) | |
| 15 | g.48526190T>C | CA392350067 | FBN1 | c.928A>G (p.Ser310Gly) c.636+11521A>G (n.636+11521A>G) | |
| 15 | g.48526190T>G | CA392350061 | FBN1 | c.928A>C (p.Ser310Arg) c.636+11521A>C (n.636+11521A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526190T= | CA2175543067 | FBN1 | c.928A= (p.Ser310=) c.636+11521A= (n.636+11521A=) | |
| 15 | g.48526191G>A | CA490028593 | FBN1 | c.927C>T (p.Ser309=) c.636+11520C>T (n.636+11520C>T) | |
| 15 | g.48526191G>C | CA392350071 | FBN1 | c.927C>G (p.Ser309Arg) c.636+11520C>G (n.636+11520C>G) | |
| 15 | g.48526191G>T | CA392350072 | FBN1 | c.927C>A (p.Ser309Arg) c.636+11520C>A (n.636+11520C>A) | |
| 15 | g.48526192C>A | CA392350080 | FBN1 | c.926G>T (p.Ser309Ile) c.636+11519G>T (n.636+11519G>T) | |
| 15 | g.48526192C= | CA2175543072 | FBN1 | c.926G= (p.Ser309=) c.636+11519G= (n.636+11519G=) | |
| 15 | g.48526192C>G | CA392350084 | FBN1 | c.926G>C (p.Ser309Thr) c.636+11519G>C (n.636+11519G>C) | |
| 15 | g.48526192C>T | CA392350091 | FBN1 | c.926G>A (p.Ser309Asn) c.636+11519G>A (n.636+11519G>A) | ClinVar dbSNP |
| 15 | g.48526195_48526198del | CA2580089621 | FBN1 | c.923_926del (p.Val308AlafsTer21) c.636+11516_636+11519del (n.636+11516_636+11519del) | ClinVar gnomAD v4 |
| 15 | g.48526193del | CA2573150799 | FBN1 | c.925del (p.Ser309AlafsTer21) c.636+11518del (n.636+11518del) | ClinVar dbSNP |
| 15 | g.48526193T>A | CA392350097 | FBN1 | c.925A>T (p.Ser309Cys) c.636+11518A>T (n.636+11518A>T) | |
| 15 | g.48526193T>C | CA392350100 | FBN1 | c.925A>G (p.Ser309Gly) c.636+11518A>G (n.636+11518A>G) | |
| 15 | g.48526193T>G | CA392350101 | FBN1 | c.925A>C (p.Ser309Arg) c.636+11518A>C (n.636+11518A>C) | |
| 15 | g.48526194G>A | CA060373 | FBN1 | c.924C>T (p.Val308=) c.636+11517C>T (n.636+11517C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526194G>C | CA490028594 | FBN1 | c.924C>G (p.Val308=) c.636+11517C>G (n.636+11517C>G) | gnomAD v4 |
| 15 | g.48526194G= | CA2175543076 | FBN1 | c.924C= (p.Val308=) c.636+11517C= (n.636+11517C=) | |
| 15 | g.48526194G>T | CA490028595 | FBN1 | c.924C>A (p.Val308=) c.636+11517C>A (n.636+11517C>A) | |
| 15 | g.48526195A= | CA2175543080 | FBN1 | c.923T= (p.Val308=) c.636+11516T= (n.636+11516T=) | |
| 15 | g.48526195A>C | CA392350113 | FBN1 | c.923T>G (p.Val308Gly) c.636+11516T>G (n.636+11516T>G) | dbSNP |
| 15 | g.48526195A>G | CA392350117 | FBN1 | c.923T>C (p.Val308Ala) c.636+11516T>C (n.636+11516T>C) | |
| 15 | g.48526195A>T | CA392350121 | FBN1 | c.923T>A (p.Val308Asp) c.636+11516T>A (n.636+11516T>A) | gnomAD v4 |
| 15 | g.48526196C>A | CA392350127 | FBN1 | c.922G>T (p.Val308Phe) c.636+11515G>T (n.636+11515G>T) | |
| 15 | g.48526196C>G | CA392350130 | FBN1 | c.922G>C (p.Val308Leu) c.636+11515G>C (n.636+11515G>C) | |
| 15 | g.48526196C>T | CA392350134 | FBN1 | c.922G>A (p.Val308Ile) c.636+11515G>A (n.636+11515G>A) | COSMIC |
| 15 | g.48526197T>A | CA490028596 | FBN1 | c.921A>T (p.Thr307=) c.636+11514A>T (n.636+11514A>T) | dbSNP |
| 15 | g.48526197T>C | CA490028597 | FBN1 | c.921A>G (p.Thr307=) c.636+11514A>G (n.636+11514A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48526197T>G | CA490028598 | FBN1 | c.921A>C (p.Thr307=) c.636+11514A>C (n.636+11514A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48526197T= | CA2175543084 | FBN1 | c.921A= (p.Thr307=) c.636+11514A= (n.636+11514A=) | |
| 15 | g.48526200_48526201del | CA2580613817 | FBN1 | c.920_921del (p.Thr307SerfsTer?) c.636+11513_636+11514del (n.636+11513_636+11514del) | ClinVar |
| 15 | g.48526198G>A | CA392350142 | FBN1 | c.920C>T (p.Thr307Ile) c.636+11513C>T (n.636+11513C>T) | |
| 15 | g.48526198G>C | CA392350151 | FBN1 | c.920C>G (p.Thr307Arg) c.636+11513C>G (n.636+11513C>G) | ClinVar gnomAD v4 |
| 15 | g.48526198G>T | CA392350149 | FBN1 | c.920C>A (p.Thr307Lys) c.636+11513C>A (n.636+11513C>A) | |
| 15 | g.48526198_48526202delinsGTGTT | CA2175543086 | FBN1 | c.916_920delinsAACAC (p.Asn306=) c.636+11509_636+11513delinsAACAC (n.636+11509_636+11513delinsAACAC) | |
| 15 | g.48526199T>A | CA392350160 | FBN1 | c.919A>T (p.Thr307Ser) c.636+11512A>T (n.636+11512A>T) | |
| 15 | g.48526199T>C | CA392350170 | FBN1 | c.919A>G (p.Thr307Ala) c.636+11512A>G (n.636+11512A>G) | |
| 15 | g.48526199T>G | CA392350174 | FBN1 | c.919A>C (p.Thr307Pro) c.636+11512A>C (n.636+11512A>C) | |
| 15 | g.48526202_48526205del | CA915946609 | FBN1 | c.916_919del (p.Asn306GlnfsTer23) c.636+11509_636+11512del (n.636+11509_636+11512del) | ClinVar dbSNP |
| 15 | g.48526200G>A | CA490028599 | FBN1 | c.918C>T (p.Asn306=) c.636+11511C>T (n.636+11511C>T) | gnomAD v4 |
| 15 | g.48526200G>C | CA392350191 | FBN1 | c.918C>G (p.Asn306Lys) c.636+11511C>G (n.636+11511C>G) | |
| 15 | g.48526200G>T | CA392350193 | FBN1 | c.918C>A (p.Asn306Lys) c.636+11511C>A (n.636+11511C>A) | |
| 15 | g.48526200_48526201delinsGT | CA2175543090 | FBN1 | c.917_918delinsAC (p.Asn306=) c.636+11510_636+11511delinsAC (n.636+11510_636+11511delinsAC) | |
| 15 | g.48526201T>A | CA392350197 | FBN1 | c.917A>T (p.Asn306Ile) c.636+11510A>T (n.636+11510A>T) | |
| 15 | g.48526201T>C | CA392350200 | FBN1 | c.917A>G (p.Asn306Ser) c.636+11510A>G (n.636+11510A>G) | COSMIC |
| 15 | g.48526201T>G | CA392350205 | FBN1 | c.917A>C (p.Asn306Thr) c.636+11510A>C (n.636+11510A>C) | |
| 15 | g.48526203del | CA16619976 | FBN1 | c.917del (p.Asn306ThrfsTer24) c.636+11510del (n.636+11510del) | ClinVar dbSNP |
| 15 | g.48526202T>A | CA392350209 | FBN1 | c.916A>T (p.Asn306Tyr) c.636+11509A>T (n.636+11509A>T) | |
| 15 | g.48526202T>C | CA392350213 | FBN1 | c.916A>G (p.Asn306Asp) c.636+11509A>G (n.636+11509A>G) | ClinVar dbSNP |
| 15 | g.48526202T>G | CA392350216 | FBN1 | c.916A>C (p.Asn306His) c.636+11509A>C (n.636+11509A>C) | |
| 15 | g.48526202T= | CA2175543092 | FBN1 | c.916A= (p.Asn306=) c.636+11509A= (n.636+11509A=) | |
| 15 | g.48526203T>A | CA490028602 | FBN1 | c.915A>T (p.Thr305=) c.636+11508A>T (n.636+11508A>T) | |
| 15 | g.48526203T>C | CA490028601 | FBN1 | c.915A>G (p.Thr305=) c.636+11508A>G (n.636+11508A>G) | |
| 15 | g.48526203T>G | CA490028600 | FBN1 | c.915A>C (p.Thr305=) c.636+11508A>C (n.636+11508A>C) | |
| 15 | g.48526204G>A | CA392350221 | FBN1 | c.914C>T (p.Thr305Ile) c.636+11507C>T (n.636+11507C>T) | dbSNP gnomAD v4 |
| 15 | g.48526204G>C | CA392350228 | FBN1 | c.914C>G (p.Thr305Arg) c.636+11507C>G (n.636+11507C>G) | |
| 15 | g.48526204G= | CA2175543095 | FBN1 | c.914C= (p.Thr305=) c.636+11507C= (n.636+11507C=) | |
| 15 | g.48526204G>T | CA392350225 | FBN1 | c.914C>A (p.Thr305Lys) c.636+11507C>A (n.636+11507C>A) | |
| 15 | g.48526205T>A | CA392350232 | FBN1 | c.913A>T (p.Thr305Ser) c.636+11506A>T (n.636+11506A>T) | |
| 15 | g.48526205T>C | CA060364 | FBN1 | c.913A>G (p.Thr305Ala) c.636+11506A>G (n.636+11506A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526205T>G | CA392350238 | FBN1 | c.913A>C (p.Thr305Pro) c.636+11506A>C (n.636+11506A>C) | |
| 15 | g.48526205T= | CA2175543098 | FBN1 | c.913A= (p.Thr305=) c.636+11506A= (n.636+11506A=) | |
| 15 | g.48526206A>C | CA392350251 | FBN1 | c.912T>G (p.Cys304Trp) c.636+11505T>G (n.636+11505T>G) | |
| 15 | g.48526206A>G | CA490028603 | FBN1 | c.912T>C (p.Cys304=) c.636+11505T>C (n.636+11505T>C) | |
| 15 | g.48526206A>T | CA392350254 | FBN1 | c.912T>A (p.Cys304Ter) c.636+11505T>A (n.636+11505T>A) | |
| 15 | g.48526207C>A | CA392350259 | FBN1 | c.911G>T (p.Cys304Phe) c.636+11504G>T (n.636+11504G>T) | |
| 15 | g.48526207C= | CA2175543103 | FBN1 | c.911G= (p.Cys304=) c.636+11504G= (n.636+11504G=) | |
| 15 | g.48526207C>G | CA392350261 | FBN1 | c.911G>C (p.Cys304Ser) c.636+11504G>C (n.636+11504G>C) | |
| 15 | g.48526207C>T | CA392350265 | FBN1 | c.911G>A (p.Cys304Tyr) c.636+11504G>A (n.636+11504G>A) | ClinVar dbSNP |
| 15 | g.48526208A>C | CA392350269 | FBN1 | c.910T>G (p.Cys304Gly) c.636+11503T>G (n.636+11503T>G) | gnomAD v4 |
| 15 | g.48526208A>G | CA392350270 | FBN1 | c.910T>C (p.Cys304Arg) c.636+11503T>C (n.636+11503T>C) | |
| 15 | g.48526208A>T | CA392350273 | FBN1 | c.910T>A (p.Cys304Ser) c.636+11503T>A (n.636+11503T>A) | |
| 15 | g.48526209T>A | CA392350277 | FBN1 | c.909A>T (p.Glu303Asp) c.636+11502A>T (n.636+11502A>T) | |
| 15 | g.48526209T>C | CA490028604 | FBN1 | c.909A>G (p.Glu303=) c.636+11502A>G (n.636+11502A>G) | |
| 15 | g.48526209T>G | CA392350278 | FBN1 | c.909A>C (p.Glu303Asp) c.636+11502A>C (n.636+11502A>C) | |
| 15 | g.48526210T>A | CA392350288 | FBN1 | c.908A>T (p.Glu303Val) c.636+11501A>T (n.636+11501A>T) | |
| 15 | g.48526210T>C | CA392350292 | FBN1 | c.908A>G (p.Glu303Gly) c.636+11501A>G (n.636+11501A>G) | |
| 15 | g.48526210T>G | CA392350290 | FBN1 | c.908A>C (p.Glu303Ala) c.636+11501A>C (n.636+11501A>C) | |
| 15 | g.48526211C>A | CA392350296 | FBN1 | c.907G>T (p.Glu303Ter) c.636+11500G>T (n.636+11500G>T) | |
| 15 | g.48526211C= | CA2175543106 | FBN1 | c.907G= (p.Glu303=) c.636+11500G= (n.636+11500G=) | |
| 15 | g.48526211C>G | CA392350300 | FBN1 | c.907G>C (p.Glu303Gln) c.636+11500G>C (n.636+11500G>C) | |
| 15 | g.48526211C>T | CA392350304 | FBN1 | c.907G>A (p.Glu303Lys) c.636+11500G>A (n.636+11500G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48526212A>C | CA490028605 | FBN1 | c.906T>G (p.Gly302=) c.636+11499T>G (n.636+11499T>G) | |
| 15 | g.48526212A>G | CA490028606 | FBN1 | c.906T>C (p.Gly302=) c.636+11499T>C (n.636+11499T>C) | dbSNP |
| 15 | g.48526212A>T | CA490028607 | FBN1 | c.906T>A (p.Gly302=) c.636+11499T>A (n.636+11499T>A) | |
| 15 | g.48526212_48526213delinsAC | CA2175543111 | FBN1 | c.905_906delinsGT (p.Gly302=) c.636+11498_636+11499delinsGT (n.636+11498_636+11499delinsGT) | |
| 15 | g.48526213C>A | CA060350 | FBN1 | c.905G>T (p.Gly302Val) c.636+11498G>T (n.636+11498G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526213C= | CA2175543117 | FBN1 | c.905G= (p.Gly302=) c.636+11498G= (n.636+11498G=) | |
| 15 | g.48526213C>G | CA392350315 | FBN1 | c.905G>C (p.Gly302Ala) c.636+11498G>C (n.636+11498G>C) | |
| 15 | g.48526213C>T | CA392350318 | FBN1 | c.905G>A (p.Gly302Asp) c.636+11498G>A (n.636+11498G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48526217del | CA916082425 | FBN1 | c.905del (p.Gly302ValfsTer28) c.636+11498del (n.636+11498del) | ClinVar dbSNP |
| 15 | g.48526214C>A | CA392350326 | FBN1 | c.904G>T (p.Gly302Cys) c.636+11497G>T (n.636+11497G>T) | |
| 15 | g.48526214C>G | CA392350329 | FBN1 | c.904G>C (p.Gly302Arg) c.636+11497G>C (n.636+11497G>C) | |
| 15 | g.48526214C>T | CA392350332 | FBN1 | c.904G>A (p.Gly302Ser) c.636+11497G>A (n.636+11497G>A) | |
| 15 | g.48526215C>A | CA490028608 | FBN1 | c.903G>T (p.Gly301=) c.636+11496G>T (n.636+11496G>T) | |
| 15 | g.48526215C>G | CA490028609 | FBN1 | c.903G>C (p.Gly301=) c.636+11496G>C (n.636+11496G>C) | |
| 15 | g.48526215C>T | CA490028610 | FBN1 | c.903G>A (p.Gly301=) c.636+11496G>A (n.636+11496G>A) | gnomAD v4 |
| 15 | g.48526216C>A | CA017847 | FBN1 | c.902G>T (p.Gly301Val) c.636+11495G>T (n.636+11495G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526216C= | CA2175543122 | FBN1 | c.902G= (p.Gly301=) c.636+11495G= (n.636+11495G=) | |
| 15 | g.48526216C>G | CA392350341 | FBN1 | c.902G>C (p.Gly301Ala) c.636+11495G>C (n.636+11495G>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48526216C>T | CA269567038 | FBN1 | c.902G>A (p.Gly301Glu) c.636+11495G>A (n.636+11495G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48526217C>A | CA392350346 | FBN1 | c.901G>T (p.Gly301Trp) c.636+11494G>T (n.636+11494G>T) | |
| 15 | g.48526217C>G | CA392350354 | FBN1 | c.901G>C (p.Gly301Arg) c.636+11494G>C (n.636+11494G>C) | |
| 15 | g.48526217C>T | CA392350352 | FBN1 | c.901G>A (p.Gly301Arg) c.636+11494G>A (n.636+11494G>A) | |
| 15 | g.48526218T>A | CA392350361 | FBN1 | c.900A>T (p.Glu300Asp) c.636+11493A>T (n.636+11493A>T) | |
| 15 | g.48526218T>C | CA490028611 | FBN1 | c.900A>G (p.Glu300=) c.636+11493A>G (n.636+11493A>G) | |
| 15 | g.48526218T>G | CA392350364 | FBN1 | c.900A>C (p.Glu300Asp) c.636+11493A>C (n.636+11493A>C) | |
| 15 | g.48526219del | CA2553226729 | FBN1 | c.900del (p.Gly302ValfsTer28) c.636+11493del (n.636+11493del) | |
| 15 | g.48526219T>A | CA392350371 | FBN1 | c.899A>T (p.Glu300Val) c.636+11492A>T (n.636+11492A>T) | |
| 15 | g.48526219T>C | CA392350375 | FBN1 | c.899A>G (p.Glu300Gly) c.636+11492A>G (n.636+11492A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48526219T>G | CA392350379 | FBN1 | c.899A>C (p.Glu300Ala) c.636+11492A>C (n.636+11492A>C) | |
| 15 | g.48526219T= | CA2175543128 | FBN1 | c.899A= (p.Glu300=) c.636+11492A= (n.636+11492A=) | |
| 15 | g.48526220C>A | CA392350385 | FBN1 | c.898G>T (p.Glu300Ter) c.636+11491G>T (n.636+11491G>T) | |
| 15 | g.48526220C>G | CA392350388 | FBN1 | c.898G>C (p.Glu300Gln) c.636+11491G>C (n.636+11491G>C) | |
| 15 | g.48526220C>T | CA392350393 | FBN1 | c.898G>A (p.Glu300Lys) c.636+11491G>A (n.636+11491G>A) | |
| 15 | g.48526222_48526223del | CA2575717661 | FBN1 | c.897_898del (p.Cys299Ter) c.636+11490_636+11491del (n.636+11490_636+11491del) | ClinVar dbSNP |
| 15 | g.48526221A>C | CA392350397 | FBN1 | c.897T>G (p.Cys299Trp) c.636+11490T>G (n.636+11490T>G) | |
| 15 | g.48526221A>G | CA490028612 | FBN1 | c.897T>C (p.Cys299=) c.636+11490T>C (n.636+11490T>C) | |
| 15 | g.48526221A>T | CA392350407 | FBN1 | c.897T>A (p.Cys299Ter) c.636+11490T>A (n.636+11490T>A) | |
| 15 | g.48526222C>A | CA392350410 | FBN1 | c.896G>T (p.Cys299Phe) c.636+11489G>T (n.636+11489G>T) | |
| 15 | g.48526222C>G | CA392350411 | FBN1 | c.896G>C (p.Cys299Ser) c.636+11489G>C (n.636+11489G>C) | |
| 15 | g.48526222C>T | CA392350412 | FBN1 | c.896G>A (p.Cys299Tyr) c.636+11489G>A (n.636+11489G>A) | |
| 15 | g.48526223A= | CA2175543133 | FBN1 | c.895T= (p.Cys299=) c.636+11488T= (n.636+11488T=) | |
| 15 | g.48526223A>C | CA392350416 | FBN1 | c.895T>G (p.Cys299Gly) c.636+11488T>G (n.636+11488T>G) | |
| 15 | g.48526223A>G | CA392350420 | FBN1 | c.895T>C (p.Cys299Arg) c.636+11488T>C (n.636+11488T>C) | ClinVar dbSNP COSMIC |
| 15 | g.48526223A>T | CA392350419 | FBN1 | c.895T>A (p.Cys299Ser) c.636+11488T>A (n.636+11488T>A) | |
| 15 | g.48526224G>A | CA490028613 | FBN1 | c.894C>T (p.Ile298=) c.636+11487C>T (n.636+11487C>T) | gnomAD v4 |
| 15 | g.48526224G>C | CA392350423 | FBN1 | c.894C>G (p.Ile298Met) c.636+11487C>G (n.636+11487C>G) | |
| 15 | g.48526224G>T | CA490028614 | FBN1 | c.894C>A (p.Ile298=) c.636+11487C>A (n.636+11487C>A) | |
| 15 | g.48526225A>C | CA392350426 | FBN1 | c.893T>G (p.Ile298Ser) c.636+11486T>G (n.636+11486T>G) | |
| 15 | g.48526225A>G | CA392350428 | FBN1 | c.893T>C (p.Ile298Thr) c.636+11486T>C (n.636+11486T>C) | |
| 15 | g.48526225A>T | CA392350430 | FBN1 | c.893T>A (p.Ile298Asn) c.636+11486T>A (n.636+11486T>A) | |
| 15 | g.48526226T>A | CA392350433 | FBN1 | c.892A>T (p.Ile298Phe) c.636+11485A>T (n.636+11485A>T) | |
| 15 | g.48526226T>C | CA392350436 | FBN1 | c.892A>G (p.Ile298Val) c.636+11485A>G (n.636+11485A>G) | COSMIC |
| 15 | g.48526226T>G | CA392350438 | FBN1 | c.892A>C (p.Ile298Leu) c.636+11485A>C (n.636+11485A>C) | |
| 15 | g.48526227T>A | CA490028615 | FBN1 | c.891A>T (p.Gly297=) c.636+11484A>T (n.636+11484A>T) | gnomAD v4 |
| 15 | g.48526227T>C | CA490028616 | FBN1 | c.891A>G (p.Gly297=) c.636+11484A>G (n.636+11484A>G) | |
| 15 | g.48526227T>G | CA490028617 | FBN1 | c.891A>C (p.Gly297=) c.636+11484A>C (n.636+11484A>C) | |
| 15 | g.48526228C>A | CA392350441 | FBN1 | c.890G>T (p.Gly297Val) c.636+11483G>T (n.636+11483G>T) | |
| 15 | g.48526228C= | CA2175543136 | FBN1 | c.890G= (p.Gly297=) c.636+11483G= (n.636+11483G=) | |
| 15 | g.48526228C>G | CA392350443 | FBN1 | c.890G>C (p.Gly297Ala) c.636+11483G>C (n.636+11483G>C) | |
| 15 | g.48526228C>T | CA392350444 | FBN1 | c.890G>A (p.Gly297Glu) c.636+11483G>A (n.636+11483G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48526229C>A | CA392350447 | FBN1 | c.889G>T (p.Gly297Ter) c.636+11482G>T (n.636+11482G>T) | |
| 15 | g.48526229C= | CA2175543139 | FBN1 | c.889G= (p.Gly297=) c.636+11482G= (n.636+11482G=) | |
| 15 | g.48526229C>G | CA392350446 | FBN1 | c.889G>C (p.Gly297Arg) c.636+11482G>C (n.636+11482G>C) | |
| 15 | g.48526229C>T | CA392350445 | FBN1 | c.889G>A (p.Gly297Arg) c.636+11482G>A (n.636+11482G>A) | dbSNP gnomAD v4 |
| 15 | g.48526230A>C | CA490028618 | FBN1 | c.888T>G (p.Pro296=) c.636+11481T>G (n.636+11481T>G) | |
| 15 | g.48526230A>G | CA490028619 | FBN1 | c.888T>C (p.Pro296=) c.636+11481T>C (n.636+11481T>C) | |
| 15 | g.48526230A>T | CA490028620 | FBN1 | c.888T>A (p.Pro296=) c.636+11481T>A (n.636+11481T>A) | |
| 15 | g.48526231G>A | CA392350448 | FBN1 | c.887C>T (p.Pro296Leu) c.636+11480C>T (n.636+11480C>T) | |
| 15 | g.48526231G>C | CA392350450 | FBN1 | c.887C>G (p.Pro296Arg) c.636+11480C>G (n.636+11480C>G) | |
| 15 | g.48526231G>T | CA392350452 | FBN1 | c.887C>A (p.Pro296His) c.636+11480C>A (n.636+11480C>A) | |
| 15 | g.48526232G>A | CA392350455 | FBN1 | c.886C>T (p.Pro296Ser) c.636+11479C>T (n.636+11479C>T) | |
| 15 | g.48526232G>C | CA392350457 | FBN1 | c.886C>G (p.Pro296Ala) c.636+11479C>G (n.636+11479C>G) | gnomAD v4 |
| 15 | g.48526232G>T | CA392350459 | FBN1 | c.886C>A (p.Pro296Thr) c.636+11479C>A (n.636+11479C>A) | |
| 15 | g.48526233A= | CA2175543141 | FBN1 | c.885T= (p.Ile295=) c.636+11478T= (n.636+11478T=) | |
| 15 | g.48526233A>C | CA060328 | FBN1 | c.885T>G (p.Ile295Met) c.636+11478T>G (n.636+11478T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526233A>G | CA490028621 | FBN1 | c.885T>C (p.Ile295=) c.636+11478T>C (n.636+11478T>C) | |
| 15 | g.48526233A>T | CA490028622 | FBN1 | c.885T>A (p.Ile295=) c.636+11478T>A (n.636+11478T>A) | |
| 15 | g.48526234A>C | CA392350466 | FBN1 | c.884T>G (p.Ile295Ser) c.636+11477T>G (n.636+11477T>G) | |
| 15 | g.48526234A>G | CA392350471 | FBN1 | c.884T>C (p.Ile295Thr) c.636+11477T>C (n.636+11477T>C) | |
| 15 | g.48526234A>T | CA392350469 | FBN1 | c.884T>A (p.Ile295Asn) c.636+11477T>A (n.636+11477T>A) | |
| 15 | g.48526235T>A | CA392350474 | FBN1 | c.883A>T (p.Ile295Phe) c.636+11476A>T (n.636+11476A>T) | |
| 15 | g.48526235T>C | CA392350477 | FBN1 | c.883A>G (p.Ile295Val) c.636+11476A>G (n.636+11476A>G) | gnomAD v4 |
| 15 | g.48526235T>G | CA392350480 | FBN1 | c.883A>C (p.Ile295Leu) c.636+11476A>C (n.636+11476A>C) | |
| 15 | g.48526236G>A | CA490028623 | FBN1 | c.882C>T (p.Thr294=) c.636+11475C>T (n.636+11475C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48526236G>C | CA490028624 | FBN1 | c.882C>G (p.Thr294=) c.636+11475C>G (n.636+11475C>G) | |
| 15 | g.48526236G= | CA2175543146 | FBN1 | c.882C= (p.Thr294=) c.636+11475C= (n.636+11475C=) | |
| 15 | g.48526236G>T | CA060324 | FBN1 | c.882C>A (p.Thr294=) c.636+11475C>A (n.636+11475C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526237G>A | CA392350485 | FBN1 | c.881C>T (p.Thr294Ile) c.636+11474C>T (n.636+11474C>T) | gnomAD v4 |
| 15 | g.48526237G>C | CA392350487 | FBN1 | c.881C>G (p.Thr294Ser) c.636+11474C>G (n.636+11474C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48526237G= | CA2175543151 | FBN1 | c.881C= (p.Thr294=) c.636+11474C= (n.636+11474C=) | |
| 15 | g.48526237G>T | CA392350486 | FBN1 | c.881C>A (p.Thr294Asn) c.636+11474C>A (n.636+11474C>A) | |
| 15 | g.48526238T>A | CA392350488 | FBN1 | c.880A>T (p.Thr294Ser) c.636+11473A>T (n.636+11473A>T) | |
| 15 | g.48526238T>C | CA392350489 | FBN1 | c.880A>G (p.Thr294Ala) c.636+11473A>G (n.636+11473A>G) | |
| 15 | g.48526238T>G | CA392350491 | FBN1 | c.880A>C (p.Thr294Pro) c.636+11473A>C (n.636+11473A>C) | |
| 15 | g.48526239G>A | CA490028625 | FBN1 | c.879C>T (p.Ser293=) c.636+11472C>T (n.636+11472C>T) | |
| 15 | g.48526239G>C | CA392350494 | FBN1 | c.879C>G (p.Ser293Arg) c.636+11472C>G (n.636+11472C>G) | |
| 15 | g.48526239G>T | CA392350497 | FBN1 | c.879C>A (p.Ser293Arg) c.636+11472C>A (n.636+11472C>A) | |
| 15 | g.48526240del | CA2697549060 | FBN1 | c.878del (p.Ser293ThrfsTer?) c.636+11471del (n.636+11471del) | ClinVar |
| 15 | g.48526240C>A | CA392350500 | FBN1 | c.878G>T (p.Ser293Ile) c.636+11471G>T (n.636+11471G>T) | |
| 15 | g.48526240C= | CA2175543154 | FBN1 | c.878G= (p.Ser293=) c.636+11471G= (n.636+11471G=) | |
| 15 | g.48526240C>G | CA392350502 | FBN1 | c.878G>C (p.Ser293Thr) c.636+11471G>C (n.636+11471G>C) | |
| 15 | g.48526240C>T | CA392350505 | FBN1 | c.878G>A (p.Ser293Asn) c.636+11471G>A (n.636+11471G>A) | ClinVar dbSNP |
| 15 | g.48526241T>A | CA392350506 | FBN1 | c.877A>T (p.Ser293Cys) c.636+11470A>T (n.636+11470A>T) | |
| 15 | g.48526241T>C | CA392350507 | FBN1 | c.877A>G (p.Ser293Gly) c.636+11470A>G (n.636+11470A>G) | |
| 15 | g.48526241T>G | CA392350508 | FBN1 | c.877A>C (p.Ser293Arg) c.636+11470A>C (n.636+11470A>C) | |
| 15 | g.48526242G>A | CA490028626 | FBN1 | c.876C>T (p.Cys292=) c.636+11469C>T (n.636+11469C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48526242G>C | CA392350514 | FBN1 | c.876C>G (p.Cys292Trp) c.636+11469C>G (n.636+11469C>G) | |
| 15 | g.48526242G= | CA2175543157 | FBN1 | c.876C= (p.Cys292=) c.636+11469C= (n.636+11469C=) | |
| 15 | g.48526242G>T | CA392350511 | FBN1 | c.876C>A (p.Cys292Ter) c.636+11469C>A (n.636+11469C>A) | |
| 15 | g.48526243C>A | CA392350519 | FBN1 | c.875G>T (p.Cys292Phe) c.636+11468G>T (n.636+11468G>T) | |
| 15 | g.48526243C>G | CA392350524 | FBN1 | c.875G>C (p.Cys292Ser) c.636+11468G>C (n.636+11468G>C) | |
| 15 | g.48526243C>T | CA392350522 | FBN1 | c.875G>A (p.Cys292Tyr) c.636+11468G>A (n.636+11468G>A) | |
| 15 | g.48526244A>C | CA392350526 | FBN1 | c.874T>G (p.Cys292Gly) c.636+11467T>G (n.636+11467T>G) | |
| 15 | g.48526244A>G | CA392350533 | FBN1 | c.874T>C (p.Cys292Arg) c.636+11467T>C (n.636+11467T>C) | |
| 15 | g.48526244A>T | CA392350528 | FBN1 | c.874T>A (p.Cys292Ser) c.636+11467T>A (n.636+11467T>A) | |
| 15 | g.48526245T>A | CA392350534 | FBN1 | c.873A>T (p.Glu291Asp) c.636+11466A>T (n.636+11466A>T) | |
| 15 | g.48526245T>C | CA490028627 | FBN1 | c.873A>G (p.Glu291=) c.636+11466A>G (n.636+11466A>G) | gnomAD v4 |
| 15 | g.48526245T>G | CA392350536 | FBN1 | c.873A>C (p.Glu291Asp) c.636+11466A>C (n.636+11466A>C) | |
| 15 | g.48526246T>A | CA392350539 | FBN1 | c.872A>T (p.Glu291Val) c.636+11465A>T (n.636+11465A>T) | ClinVar gnomAD v4 |
| 15 | g.48526246T>C | CA392350542 | FBN1 | c.872A>G (p.Glu291Gly) c.636+11465A>G (n.636+11465A>G) | |
| 15 | g.48526246T>G | CA392350545 | FBN1 | c.872A>C (p.Glu291Ala) c.636+11465A>C (n.636+11465A>C) | |
| 15 | g.48526247C>A | CA392350549 | FBN1 | c.871G>T (p.Glu291Ter) c.636+11464G>T (n.636+11464G>T) | ClinVar dbSNP |
| 15 | g.48526247C= | CA2175543163 | FBN1 | c.871G= (p.Glu291=) c.636+11464G= (n.636+11464G=) | |
| 15 | g.48526247C>G | CA392350553 | FBN1 | c.871G>C (p.Glu291Gln) c.636+11464G>C (n.636+11464G>C) | |
| 15 | g.48526247C>T | CA392350555 | FBN1 | c.871G>A (p.Glu291Lys) c.636+11464G>A (n.636+11464G>A) | dbSNP COSMIC |
| 15 | g.48526248A>C | CA392350558 | FBN1 | c.870T>G (p.Asp290Glu) c.636+11463T>G (n.636+11463T>G) | |
| 15 | g.48526248A>G | CA490028628 | FBN1 | c.870T>C (p.Asp290=) c.636+11463T>C (n.636+11463T>C) | |
| 15 | g.48526248A>T | CA392350562 | FBN1 | c.870T>A (p.Asp290Glu) c.636+11463T>A (n.636+11463T>A) | |
| 15 | g.48526249T>A | CA392350565 | FBN1 | c.869A>T (p.Asp290Val) c.636+11462A>T (n.636+11462A>T) | |
| 15 | g.48526249T>C | CA392350574 | FBN1 | c.869A>G (p.Asp290Gly) c.636+11462A>G (n.636+11462A>G) | |
| 15 | g.48526249T>G | CA392350569 | FBN1 | c.869A>C (p.Asp290Ala) c.636+11462A>C (n.636+11462A>C) | |
| 15 | g.48526250C>A | CA392350577 | FBN1 | c.868G>T (p.Asp290Tyr) c.636+11461G>T (n.636+11461G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48526250C= | CA2175543168 | FBN1 | c.868G= (p.Asp290=) c.636+11461G= (n.636+11461G=) | |
| 15 | g.48526250C>G | CA392350578 | FBN1 | c.868G>C (p.Asp290His) c.636+11461G>C (n.636+11461G>C) | |
| 15 | g.48526250C>T | CA392350580 | FBN1 | c.868G>A (p.Asp290Asn) c.636+11461G>A (n.636+11461G>A) | |
| 15 | g.48526251A>C | CA392350584 | FBN1 | c.867T>G (p.Ile289Met) c.636+11460T>G (n.636+11460T>G) | ClinVar dbSNP |
| 15 | g.48526251A>G | CA490028630 | FBN1 | c.867T>C (p.Ile289=) c.636+11460T>C (n.636+11460T>C) | COSMIC |
| 15 | g.48526251A>T | CA490028629 | FBN1 | c.867T>A (p.Ile289=) c.636+11460T>A (n.636+11460T>A) | |
| 15 | g.48526252A= | CA2175543170 | FBN1 | c.866T= (p.Ile289=) c.636+11459T= (n.636+11459T=) | |
| 15 | g.48526252A>C | CA392350588 | FBN1 | c.866T>G (p.Ile289Ser) c.636+11459T>G (n.636+11459T>G) | |
| 15 | g.48526252A>G | CA392350594 | FBN1 | c.866T>C (p.Ile289Thr) c.636+11459T>C (n.636+11459T>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48526252A>T | CA392350591 | FBN1 | c.866T>A (p.Ile289Asn) c.636+11459T>A (n.636+11459T>A) | |
| 15 | g.48526253T>A | CA392350602 | FBN1 | c.865A>T (p.Ile289Phe) c.636+11458A>T (n.636+11458A>T) | |
| 15 | g.48526253T>C | CA392350605 | FBN1 | c.865A>G (p.Ile289Val) c.636+11458A>G (n.636+11458A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48526253T>G | CA392350607 | FBN1 | c.865A>C (p.Ile289Leu) c.636+11458A>C (n.636+11458A>C) | |
| 15 | g.48526253T= | CA2175543172 | FBN1 | c.865A= (p.Ile289=) c.636+11458A= (n.636+11458A=) | |
| 15 | g.48526254A>C | CA392350611 | FBN1 | c.864T>G (p.Asp288Glu) c.636+11457T>G (n.636+11457T>G) | |
| 15 | g.48526254A>G | CA490028631 | FBN1 | c.864T>C (p.Asp288=) c.636+11457T>C (n.636+11457T>C) | |
| 15 | g.48526254A>T | CA392350613 | FBN1 | c.864T>A (p.Asp288Glu) c.636+11457T>A (n.636+11457T>A) | |
| 15 | g.48526255T>A | CA392350621 | FBN1 | c.863A>T (p.Asp288Val) c.636+11456A>T (n.636+11456A>T) n.1T>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48526255T>C | CA060316 | FBN1 | c.863A>G (p.Asp288Gly) c.636+11456A>G (n.636+11456A>G) n.1T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526255T>G | CA392350623 | FBN1 | c.863A>C (p.Asp288Ala) c.636+11456A>C (n.636+11456A>C) n.1T>G | |
| 15 | g.48526255T= | CA2175543175 | FBN1 | c.863A= (p.Asp288=) c.636+11456A= (n.636+11456A=) n.1T= | |
| 15 | g.48526256C>A | CA392350625 | FBN1 | c.863-1G>T (n.863-1G>T) c.636+11455G>T (n.636+11455G>T) n.2C>A | |
| 15 | g.48526256C= | CA2175543177 | FBN1 | c.863-1G= (n.863-1G=) c.636+11455G= (n.636+11455G=) n.2C= | |
| 15 | g.48526256C>G | CA392350626 | FBN1 | c.863-1G>C (n.863-1G>C) c.636+11455G>C (n.636+11455G>C) n.2C>G | |
| 15 | g.48526256C>T | CA392350627 | FBN1 | c.863-1G>A (n.863-1G>A) c.636+11455G>A (n.636+11455G>A) n.2C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48526257T>A | CA392350633 | FBN1 | c.863-2A>T (n.863-2A>T) c.636+11454A>T (n.636+11454A>T) n.3T>A | |
| 15 | g.48526257T>C | CA392350637 | FBN1 | c.863-2A>G (n.863-2A>G) c.636+11454A>G (n.636+11454A>G) n.3T>C | ClinVar gnomAD v4 |
| 15 | g.48526257T>G | CA392350635 | FBN1 | c.863-2A>C (n.863-2A>C) c.636+11454A>C (n.636+11454A>C) n.3T>G | |
| 15 | g.48526258G>A | CA16606739 | FBN1 | c.863-3C>T (n.863-3C>T) c.636+11453C>T (n.636+11453C>T) n.4G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526258G= | CA2175543180 | FBN1 | c.863-3C= (n.863-3C=) c.636+11453C= (n.636+11453C=) n.4G= | |
| 15 | g.48526259G>A | CA2628336823 | FBN1 | c.863-4C>T (n.863-4C>T) c.636+11452C>T (n.636+11452C>T) n.5G>A | gnomAD v4 |
| 15 | g.48526260A= | CA2175543185 | FBN1 | c.863-5T= (n.863-5T=) c.636+11451T= (n.636+11451T=) n.6A= | |
| 15 | g.48526260A>T | CA2175543186 | FBN1 | c.863-5T>A (n.863-5T>A) c.636+11451T>A (n.636+11451T>A) n.6A>T | dbSNP |
| 15 | g.48526264_48526265del | CA060263 | FBN1 | c.863-7_863-6del (n.863-7_863-6del) c.636+11449_636+11450del (n.636+11449_636+11450del) n.10_11del | |
| 15 | g.48526262T>C | CA060312 | FBN1 | c.863-7A>G (n.863-7A>G) c.636+11449A>G (n.636+11449A>G) n.8T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526262T>G | CA2740096600 | FBN1 | c.863-7A>C (n.863-7A>C) c.636+11449A>C (n.636+11449A>C) n.8T>G | ClinVar |
| 15 | g.48526262T= | CA2175543188 | FBN1 | c.863-7A= (n.863-7A=) c.636+11449A= (n.636+11449A=) n.8T= | |
| 15 | g.48526263_48526264delinsAT | CA2175543190 | FBN1 | c.863-9_863-8delinsAT (n.863-9_863-8delinsAT) c.636+11447_636+11448delinsAT (n.636+11447_636+11448delinsAT) n.9_10delinsAT | |
| 15 | g.48526264del | CA919548808 | FBN1 | c.863-9del (n.863-9del) c.636+11447del (n.636+11447del) n.10del | dbSNP |
| 15 | g.48526264T>A | CA7547946 | FBN1 | c.863-9A>T (n.863-9A>T) c.636+11447A>T (n.636+11447A>T) n.10T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526264T>C | CA969570259 | FBN1 | c.863-9A>G (n.863-9A>G) c.636+11447A>G (n.636+11447A>G) n.10T>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48526264T= | CA2175543195 | FBN1 | c.863-9A= (n.863-9A=) c.636+11447A= (n.636+11447A=) n.10T= | |
| 15 | g.48526264_48526265delinsTA | CA2175543193 | FBN1 | c.863-10_863-9delinsTA (n.863-10_863-9delinsTA) c.636+11446_636+11447delinsTA (n.636+11446_636+11447delinsTA) n.10_11delinsTA | |
| 15 | g.48526265A>C | CA2569091489 | FBN1 | c.863-10T>G (n.863-10T>G) c.636+11446T>G (n.636+11446T>G) n.11A>C | gnomAD v4 |
| 15 | g.48526272dup | CA7547945 | FBN1 | c.863-10dup (n.863-10dup) c.636+11446dup (n.636+11446dup) n.18dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526272del | CA7547944 | FBN1 | c.863-10del (n.863-10del) c.636+11446del (n.636+11446del) n.18del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |