| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48497343_48497344del | CA2695220750 | FBN1 | c.2217_2218del (p.Cys739Ter) n.891_892del c.637-22692_637-22691del (n.637-22692_637-22691del) | |
| 15 | g.48497343_48497346del | CA2580089660 | FBN1 | c.2214_2217del (p.Ile738MetfsTer?) n.888_891del c.637-22695_637-22692del (n.637-22695_637-22692del) | ClinVar |
| 15 | g.48497344A>C | CA392335751 | FBN1 | c.2215T>G (p.Cys739Gly) n.889T>G c.637-22694T>G (n.637-22694T>G) | |
| 15 | g.48497344A>G | CA392335752 | FBN1 | c.2215T>C (p.Cys739Arg) n.889T>C c.637-22694T>C (n.637-22694T>C) | |
| 15 | g.48497344A>T | CA392335753 | FBN1 | c.2215T>A (p.Cys739Ser) n.889T>A c.637-22694T>A (n.637-22694T>A) | |
| 15 | g.48497345G>A | CA490023631 | FBN1 | c.2214C>T (p.Ile738=) n.888C>T c.637-22695C>T (n.637-22695C>T) | ClinVar dbSNP |
| 15 | g.48497345G>C | CA392335754 | FBN1 | c.2214C>G (p.Ile738Met) n.888C>G c.637-22695C>G (n.637-22695C>G) | |
| 15 | g.48497345G= | CA2175521397 | FBN1 | c.2214C= (p.Ile738=) n.888C= c.637-22695C= (n.637-22695C=) | |
| 15 | g.48497345G>T | CA490023632 | FBN1 | c.2214C>A (p.Ile738=) n.888C>A c.637-22695C>A (n.637-22695C>A) | gnomAD v4 |
| 15 | g.48497346A>C | CA392335755 | FBN1 | c.2213T>G (p.Ile738Ser) n.887T>G c.637-22696T>G (n.637-22696T>G) | |
| 15 | g.48497346A>G | CA392335756 | FBN1 | c.2213T>C (p.Ile738Thr) n.887T>C c.637-22696T>C (n.637-22696T>C) | |
| 15 | g.48497346A>T | CA392335757 | FBN1 | c.2213T>A (p.Ile738Asn) n.887T>A c.637-22696T>A (n.637-22696T>A) | |
| 15 | g.48497346dup | CA16614441 | FBN1 | c.2213dup (p.Cys739LeufsTer2) n.887dup c.637-22696dup (n.637-22696dup) | ClinVar dbSNP |
| 15 | g.48497347T>A | CA392335758 | FBN1 | c.2212A>T (p.Ile738Phe) n.886A>T c.637-22697A>T (n.637-22697A>T) | |
| 15 | g.48497347T>C | CA392335759 | FBN1 | c.2212A>G (p.Ile738Val) n.886A>G c.637-22697A>G (n.637-22697A>G) | |
| 15 | g.48497347T>G | CA392335760 | FBN1 | c.2212A>C (p.Ile738Leu) n.886A>C c.637-22697A>C (n.637-22697A>C) | |
| 15 | g.48497348T>A | CA490023633 | FBN1 | c.2211A>T (p.Gly737=) n.885A>T c.637-22698A>T (n.637-22698A>T) | |
| 15 | g.48497348T>C | CA490023634 | FBN1 | c.2211A>G (p.Gly737=) n.885A>G c.637-22698A>G (n.637-22698A>G) | |
| 15 | g.48497348T>G | CA490023635 | FBN1 | c.2211A>C (p.Gly737=) n.885A>C c.637-22698A>C (n.637-22698A>C) | |
| 15 | g.48497349C>A | CA392335761 | FBN1 | c.2210G>T (p.Gly737Val) n.884G>T c.637-22699G>T (n.637-22699G>T) | |
| 15 | g.48497349C>G | CA392335762 | FBN1 | c.2210G>C (p.Gly737Ala) n.884G>C c.637-22699G>C (n.637-22699G>C) | |
| 15 | g.48497349C>T | CA392335763 | FBN1 | c.2210G>A (p.Gly737Glu) n.884G>A c.637-22699G>A (n.637-22699G>A) | |
| 15 | g.48497350C>A | CA392335764 | FBN1 | c.2209G>T (p.Gly737Ter) n.883G>T c.637-22700G>T (n.637-22700G>T) | |
| 15 | g.48497350C= | CA2175521401 | FBN1 | c.2209G= (p.Gly737=) n.883G= c.637-22700G= (n.637-22700G=) | |
| 15 | g.48497350C>G | CA392335765 | FBN1 | c.2209G>C (p.Gly737Arg) n.883G>C c.637-22700G>C (n.637-22700G>C) | |
| 15 | g.48497350C>T | CA392335766 | FBN1 | c.2209G>A (p.Gly737Arg) n.883G>A c.637-22700G>A (n.637-22700G>A) | ClinVar dbSNP |
| 15 | g.48497351A= | CA2175521402 | FBN1 | c.2208T= (p.Asn736=) n.882T= c.637-22701T= (n.637-22701T=) | |
| 15 | g.48497351A>C | CA392335767 | FBN1 | c.2208T>G (p.Asn736Lys) n.882T>G c.637-22701T>G (n.637-22701T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497351A>G | CA490023636 | FBN1 | c.2208T>C (p.Asn736=) n.882T>C c.637-22701T>C (n.637-22701T>C) | gnomAD v4 |
| 15 | g.48497351A>T | CA392335768 | FBN1 | c.2208T>A (p.Asn736Lys) n.882T>A c.637-22701T>A (n.637-22701T>A) | gnomAD v4 |
| 15 | g.48497352T>A | CA392335769 | FBN1 | c.2207A>T (p.Asn736Ile) n.881A>T c.637-22702A>T (n.637-22702A>T) | dbSNP |
| 15 | g.48497352T>C | CA392335771 | FBN1 | c.2207A>G (p.Asn736Ser) n.881A>G c.637-22702A>G (n.637-22702A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48497352T>G | CA392335770 | FBN1 | c.2207A>C (p.Asn736Thr) n.881A>C c.637-22702A>C (n.637-22702A>C) | |
| 15 | g.48497352T= | CA2175521404 | FBN1 | c.2207A= (p.Asn736=) n.881A= c.637-22702A= (n.637-22702A=) | |
| 15 | g.48497353T>A | CA392335772 | FBN1 | c.2206A>T (p.Asn736Tyr) n.880A>T c.637-22703A>T (n.637-22703A>T) | |
| 15 | g.48497353T>C | CA10583250 | FBN1 | c.2206A>G (p.Asn736Asp) n.880A>G c.637-22703A>G (n.637-22703A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497353T>G | CA392335773 | FBN1 | c.2206A>C (p.Asn736His) n.880A>C c.637-22703A>C (n.637-22703A>C) | |
| 15 | g.48497353T= | CA2175521406 | FBN1 | c.2206A= (p.Asn736=) n.880A= c.637-22703A= (n.637-22703A=) | |
| 15 | g.48497354T>A | CA490023637 | FBN1 | c.2205A>T (p.Pro735=) n.879A>T c.637-22704A>T (n.637-22704A>T) | |
| 15 | g.48497354T>C | CA047204 | FBN1 | c.2205A>G (p.Pro735=) n.879A>G c.637-22704A>G (n.637-22704A>G) | ClinVar dbSNP ExAC gnomAD v2 |
| 15 | g.48497354T>G | CA490023638 | FBN1 | c.2205A>C (p.Pro735=) n.879A>C c.637-22704A>C (n.637-22704A>C) | |
| 15 | g.48497354T= | CA2175521409 | FBN1 | c.2205A= (p.Pro735=) n.879A= c.637-22704A= (n.637-22704A=) | |
| 15 | g.48497355G>A | CA392335774 | FBN1 | c.2204C>T (p.Pro735Leu) n.878C>T c.637-22705C>T (n.637-22705C>T) | |
| 15 | g.48497355G>C | CA392335775 | FBN1 | c.2204C>G (p.Pro735Arg) n.878C>G c.637-22705C>G (n.637-22705C>G) | ClinVar gnomAD v4 |
| 15 | g.48497355G>T | CA392335776 | FBN1 | c.2204C>A (p.Pro735Gln) n.878C>A c.637-22705C>A (n.637-22705C>A) | gnomAD v4 |
| 15 | g.48497356G>A | CA392335777 | FBN1 | c.2203C>T (p.Pro735Ser) n.877C>T c.637-22706C>T (n.637-22706C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48497356G>C | CA392335778 | FBN1 | c.2203C>G (p.Pro735Ala) n.877C>G c.637-22706C>G (n.637-22706C>G) | |
| 15 | g.48497356G= | CA2175521411 | FBN1 | c.2203C= (p.Pro735=) n.877C= c.637-22706C= (n.637-22706C=) | |
| 15 | g.48497356G>T | CA392335779 | FBN1 | c.2203C>A (p.Pro735Thr) n.877C>A c.637-22706C>A (n.637-22706C>A) | |
| 15 | g.48497357G>A | CA490023639 | FBN1 | c.2202C>T (p.Cys734=) n.876C>T c.637-22707C>T (n.637-22707C>T) | |
| 15 | g.48497357G>C | CA392335780 | FBN1 | c.2202C>G (p.Cys734Trp) n.876C>G c.637-22707C>G (n.637-22707C>G) | |
| 15 | g.48497357G>T | CA392335781 | FBN1 | c.2202C>A (p.Cys734Ter) n.876C>A c.637-22707C>A (n.637-22707C>A) | |
| 15 | g.48497358C>A | CA012879 | FBN1 | c.2201G>T (p.Cys734Phe) n.875G>T c.637-22708G>T (n.637-22708G>T) | ClinVar dbSNP |
| 15 | g.48497358C= | CA2175521412 | FBN1 | c.2201G= (p.Cys734=) n.875G= c.637-22708G= (n.637-22708G=) | |
| 15 | g.48497358C>G | CA392335782 | FBN1 | c.2201G>C (p.Cys734Ser) n.875G>C c.637-22708G>C (n.637-22708G>C) | ClinVar dbSNP |
| 15 | g.48497358C>T | CA10587853 | FBN1 | c.2201G>A (p.Cys734Tyr) n.875G>A c.637-22708G>A (n.637-22708G>A) | ClinVar dbSNP |
| 15 | g.48497359A>C | CA392335783 | FBN1 | c.2200T>G (p.Cys734Gly) n.874T>G c.637-22709T>G (n.637-22709T>G) | |
| 15 | g.48497359A>G | CA392335784 | FBN1 | c.2200T>C (p.Cys734Arg) n.874T>C c.637-22709T>C (n.637-22709T>C) | ClinVar dbSNP |
| 15 | g.48497359A>T | CA392335785 | FBN1 | c.2200T>A (p.Cys734Ser) n.874T>A c.637-22709T>A (n.637-22709T>A) | ClinVar |
| 15 | g.48497360A>C | CA392335786 | FBN1 | c.2199T>G (p.Ile733Met) n.873T>G c.637-22710T>G (n.637-22710T>G) | |
| 15 | g.48497360A>G | CA490023640 | FBN1 | c.2199T>C (p.Ile733=) n.873T>C c.637-22710T>C (n.637-22710T>C) | |
| 15 | g.48497360A>T | CA490023641 | FBN1 | c.2199T>A (p.Ile733=) n.873T>A c.637-22710T>A (n.637-22710T>A) | |
| 15 | g.48497361A>C | CA392335787 | FBN1 | c.2198T>G (p.Ile733Ser) n.872T>G c.637-22711T>G (n.637-22711T>G) | |
| 15 | g.48497361A>G | CA392335788 | FBN1 | c.2198T>C (p.Ile733Thr) n.872T>C c.637-22711T>C (n.637-22711T>C) | |
| 15 | g.48497361A>T | CA392335790 | FBN1 | c.2198T>A (p.Ile733Asn) n.872T>A c.637-22711T>A (n.637-22711T>A) | |
| 15 | g.48497362T>A | CA392335793 | FBN1 | c.2197A>T (p.Ile733Phe) n.871A>T c.637-22712A>T (n.637-22712A>T) | |
| 15 | g.48497362T>C | CA047185 | FBN1 | c.2197A>G (p.Ile733Val) n.871A>G c.637-22712A>G (n.637-22712A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497362T>G | CA392335796 | FBN1 | c.2197A>C (p.Ile733Leu) n.871A>C c.637-22712A>C (n.637-22712A>C) | |
| 15 | g.48497362T= | CA2175521416 | FBN1 | c.2197A= (p.Ile733=) n.871A= c.637-22712A= (n.637-22712A=) | |
| 15 | g.48497363A= | CA2175521418 | FBN1 | c.2196T= (p.Asp732=) n.870T= c.637-22713T= (n.637-22713T=) | |
| 15 | g.48497363A>C | CA392335798 | FBN1 | c.2196T>G (p.Asp732Glu) n.870T>G c.637-22713T>G (n.637-22713T>G) | |
| 15 | g.48497363A>G | CA269539942 | FBN1 | c.2196T>C (p.Asp732=) n.870T>C c.637-22713T>C (n.637-22713T>C) | dbSNP |
| 15 | g.48497363A>T | CA392335800 | FBN1 | c.2196T>A (p.Asp732Glu) n.870T>A c.637-22713T>A (n.637-22713T>A) | |
| 15 | g.48497364T>A | CA392335802 | FBN1 | c.2195A>T (p.Asp732Val) n.869A>T c.637-22714A>T (n.637-22714A>T) | |
| 15 | g.48497364T>C | CA392335806 | FBN1 | c.2195A>G (p.Asp732Gly) n.869A>G c.637-22714A>G (n.637-22714A>G) | |
| 15 | g.48497364T>G | CA392335804 | FBN1 | c.2195A>C (p.Asp732Ala) n.869A>C c.637-22714A>C (n.637-22714A>C) | |
| 15 | g.48497365C>A | CA392335809 | FBN1 | c.2194G>T (p.Asp732Tyr) n.868G>T c.637-22715G>T (n.637-22715G>T) | |
| 15 | g.48497365C>G | CA392335813 | FBN1 | c.2194G>C (p.Asp732His) n.868G>C c.637-22715G>C (n.637-22715G>C) | |
| 15 | g.48497365C>T | CA392335811 | FBN1 | c.2194G>A (p.Asp732Asn) n.868G>A c.637-22715G>A (n.637-22715G>A) | |
| 15 | g.48497366A>C | CA490023642 | FBN1 | c.2193T>G (p.Pro731=) n.867T>G c.637-22716T>G (n.637-22716T>G) | dbSNP |
| 15 | g.48497366A>G | CA490023643 | FBN1 | c.2193T>C (p.Pro731=) n.867T>C c.637-22716T>C (n.637-22716T>C) | COSMIC |
| 15 | g.48497366A>T | CA490023644 | FBN1 | c.2193T>A (p.Pro731=) n.867T>A c.637-22716T>A (n.637-22716T>A) | |
| 15 | g.48497367G>A | CA392335815 | FBN1 | c.2192C>T (p.Pro731Leu) n.866C>T c.637-22717C>T (n.637-22717C>T) | |
| 15 | g.48497367G>C | CA269539943 | FBN1 | c.2192C>G (p.Pro731Arg) n.866C>G c.637-22717C>G (n.637-22717C>G) | dbSNP |
| 15 | g.48497367G= | CA2175521420 | FBN1 | c.2192C= (p.Pro731=) n.866C= c.637-22717C= (n.637-22717C=) | |
| 15 | g.48497367G>T | CA392335817 | FBN1 | c.2192C>A (p.Pro731His) n.866C>A c.637-22717C>A (n.637-22717C>A) | |
| 15 | g.48497368del | CA2695220751 | FBN1 | c.2192del (p.Pro731LeufsTer?) n.866del c.637-22717del (n.637-22717del) | |
| 15 | g.48497367_48497386dup | CA2499223006 | FBN1 | c.2173_2192dup (p.Asp732MetfsTer5) n.847_866dup c.637-22736_637-22717dup (n.637-22736_637-22717dup) | ClinVar dbSNP |
| 15 | g.48497368G>A | CA392335819 | FBN1 | c.2191C>T (p.Pro731Ser) n.865C>T c.637-22718C>T (n.637-22718C>T) | |
| 15 | g.48497368G>C | CA392335821 | FBN1 | c.2191C>G (p.Pro731Ala) n.865C>G c.637-22718C>G (n.637-22718C>G) | ClinVar gnomAD v4 |
| 15 | g.48497368G>T | CA392335823 | FBN1 | c.2191C>A (p.Pro731Thr) n.865C>A c.637-22718C>A (n.637-22718C>A) | gnomAD v4 |
| 15 | g.48497369A= | CA2175521421 | FBN1 | c.2190T= (p.Asp730=) n.864T= c.637-22719T= (n.637-22719T=) | |
| 15 | g.48497369A>C | CA392335826 | FBN1 | c.2190T>G (p.Asp730Glu) n.864T>G c.637-22719T>G (n.637-22719T>G) | |
| 15 | g.48497369A>G | CA490023645 | FBN1 | c.2190T>C (p.Asp730=) n.864T>C c.637-22719T>C (n.637-22719T>C) | dbSNP |
| 15 | g.48497369A>T | CA392335828 | FBN1 | c.2190T>A (p.Asp730Glu) n.864T>A c.637-22719T>A (n.637-22719T>A) | gnomAD v4 |
| 15 | g.48497370T>A | CA392335829 | FBN1 | c.2189A>T (p.Asp730Val) n.863A>T c.637-22720A>T (n.637-22720A>T) | |
| 15 | g.48497370T>C | CA392335832 | FBN1 | c.2189A>G (p.Asp730Gly) n.863A>G c.637-22720A>G (n.637-22720A>G) | |
| 15 | g.48497370T>G | CA392335834 | FBN1 | c.2189A>C (p.Asp730Ala) n.863A>C c.637-22720A>C (n.637-22720A>C) | |
| 15 | g.48497371C>A | CA392335837 | FBN1 | c.2188G>T (p.Asp730Tyr) n.862G>T c.637-22721G>T (n.637-22721G>T) | |
| 15 | g.48497371C= | CA2175521423 | FBN1 | c.2188G= (p.Asp730=) n.862G= c.637-22721G= (n.637-22721G=) | |
| 15 | g.48497371C>G | CA392335839 | FBN1 | c.2188G>C (p.Asp730His) n.862G>C c.637-22721G>C (n.637-22721G>C) | |
| 15 | g.48497371C>T | CA012868 | FBN1 | c.2188G>A (p.Asp730Asn) n.862G>A c.637-22721G>A (n.637-22721G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497372T>A | CA490023646 | FBN1 | c.2187A>T (p.Leu729=) n.861A>T c.637-22722A>T (n.637-22722A>T) | |
| 15 | g.48497372T>C | CA047179 | FBN1 | c.2187A>G (p.Leu729=) n.861A>G c.637-22722A>G (n.637-22722A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497372T>G | CA047171 | FBN1 | c.2187A>C (p.Leu729=) n.861A>C c.637-22722A>C (n.637-22722A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497372T= | CA2175521425 | FBN1 | c.2187A= (p.Leu729=) n.861A= c.637-22722A= (n.637-22722A=) | |
| 15 | g.48497372_48497373delinsTA | CA2175521426 | FBN1 | c.2186_2187delinsTA (p.Leu729=) n.860_861delinsTA c.637-22723_637-22722delinsTA (n.637-22723_637-22722delinsTA) | |
| 15 | g.48497373del | CA012860 | FBN1 | c.2186del (p.Leu729GlnfsTer?) n.860del c.637-22723del (n.637-22723del) | ClinVar dbSNP |
| 15 | g.48497373A= | CA2581198466 | FBN1 | c.2186T= (p.Leu729=) n.860T= c.637-22723T= (n.637-22723T=) | |
| 15 | g.48497373A>C | CA392335845 | FBN1 | c.2186T>G (p.Leu729Arg) n.860T>G c.637-22723T>G (n.637-22723T>G) | |
| 15 | g.48497373A>G | CA392335847 | FBN1 | c.2186T>C (p.Leu729Pro) n.860T>C c.637-22723T>C (n.637-22723T>C) | |
| 15 | g.48497373A>T | CA392335849 | FBN1 | c.2186T>A (p.Leu729Gln) n.860T>A c.637-22723T>A (n.637-22723T>A) | |
| 15 | g.48497374G>A | CA490023647 | FBN1 | c.2185C>T (p.Leu729=) n.859C>T c.637-22724C>T (n.637-22724C>T) | |
| 15 | g.48497374G>C | CA392335853 | FBN1 | c.2185C>G (p.Leu729Val) n.859C>G c.637-22724C>G (n.637-22724C>G) | |
| 15 | g.48497374G>T | CA392335855 | FBN1 | c.2185C>A (p.Leu729Ile) n.859C>A c.637-22724C>A (n.637-22724C>A) | |
| 15 | g.48497375T>A | CA490023648 | FBN1 | c.2184A>T (p.Ala728=) n.858A>T c.637-22725A>T (n.637-22725A>T) | |
| 15 | g.48497375T>C | CA490023649 | FBN1 | c.2184A>G (p.Ala728=) n.858A>G c.637-22725A>G (n.637-22725A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48497375T>G | CA490023650 | FBN1 | c.2184A>C (p.Ala728=) n.858A>C c.637-22725A>C (n.637-22725A>C) | |
| 15 | g.48497375T= | CA2175521428 | FBN1 | c.2184A= (p.Ala728=) n.858A= c.637-22725A= (n.637-22725A=) | |
| 15 | g.48497376G>A | CA392335858 | FBN1 | c.2183C>T (p.Ala728Val) n.857C>T c.637-22726C>T (n.637-22726C>T) | |
| 15 | g.48497376G>C | CA392335860 | FBN1 | c.2183C>G (p.Ala728Gly) n.857C>G c.637-22726C>G (n.637-22726C>G) | |
| 15 | g.48497376G>T | CA392335862 | FBN1 | c.2183C>A (p.Ala728Glu) n.857C>A c.637-22726C>A (n.637-22726C>A) | |
| 15 | g.48497377C>A | CA269539971 | FBN1 | c.2182G>T (p.Ala728Ser) n.856G>T c.637-22727G>T (n.637-22727G>T) | dbSNP gnomAD v4 |
| 15 | g.48497377C= | CA2175521429 | FBN1 | c.2182G= (p.Ala728=) n.856G= c.637-22727G= (n.637-22727G=) | |
| 15 | g.48497377C>G | CA392335866 | FBN1 | c.2182G>C (p.Ala728Pro) n.856G>C c.637-22727G>C (n.637-22727G>C) | |
| 15 | g.48497377C>T | CA392335868 | FBN1 | c.2182G>A (p.Ala728Thr) n.856G>A c.637-22727G>A (n.637-22727G>A) | |
| 15 | g.48497378A= | CA2175521430 | FBN1 | c.2181T= (p.Cys727=) n.855T= c.637-22728T= (n.637-22728T=) | |
| 15 | g.48497378A>C | CA392335872 | FBN1 | c.2181T>G (p.Cys727Trp) n.855T>G c.637-22728T>G (n.637-22728T>G) | |
| 15 | g.48497378A>G | CA490023651 | FBN1 | c.2181T>C (p.Cys727=) n.855T>C c.637-22728T>C (n.637-22728T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48497378A>T | CA392335874 | FBN1 | c.2181T>A (p.Cys727Ter) n.855T>A c.637-22728T>A (n.637-22728T>A) | |
| 15 | g.48497379C>A | CA392335878 | FBN1 | c.2180G>T (p.Cys727Phe) n.854G>T c.637-22729G>T (n.637-22729G>T) | |
| 15 | g.48497379C= | CA2175521432 | FBN1 | c.2180G= (p.Cys727=) n.854G= c.637-22729G= (n.637-22729G=) | |
| 15 | g.48497379C>G | CA392335880 | FBN1 | c.2180G>C (p.Cys727Ser) n.854G>C c.637-22729G>C (n.637-22729G>C) | |
| 15 | g.48497379C>T | CA012850 | FBN1 | c.2180G>A (p.Cys727Tyr) n.854G>A c.637-22729G>A (n.637-22729G>A) | ClinVar dbSNP |
| 15 | g.48497379dup | CA304344 | FBN1 | c.2180dup (p.Cys727TrpfsTer6) n.854dup c.637-22729dup (n.637-22729dup) | ClinVar dbSNP |
| 15 | g.48497380A= | CA2175521434 | FBN1 | c.2179T= (p.Cys727=) n.853T= c.637-22730T= (n.637-22730T=) | |
| 15 | g.48497380A>C | CA392335884 | FBN1 | c.2179T>G (p.Cys727Gly) n.853T>G c.637-22730T>G (n.637-22730T>G) | ClinVar dbSNP |
| 15 | g.48497380A>G | CA16619970 | FBN1 | c.2179T>C (p.Cys727Arg) n.853T>C c.637-22730T>C (n.637-22730T>C) | ClinVar dbSNP |
| 15 | g.48497380A>T | CA392335887 | FBN1 | c.2179T>A (p.Cys727Ser) n.853T>A c.637-22730T>A (n.637-22730T>A) | ClinVar dbSNP |
| 15 | g.48497381T>A | CA392335889 | FBN1 | c.2178A>T (p.Glu726Asp) n.852A>T c.637-22731A>T (n.637-22731A>T) | |
| 15 | g.48497381T>C | CA490023652 | FBN1 | c.2178A>G (p.Glu726=) n.852A>G c.637-22731A>G (n.637-22731A>G) | |
| 15 | g.48497381T>G | CA392335891 | FBN1 | c.2178A>C (p.Glu726Asp) n.852A>C c.637-22731A>C (n.637-22731A>C) | |
| 15 | g.48497382T>A | CA392335895 | FBN1 | c.2177A>T (p.Glu726Val) n.851A>T c.637-22732A>T (n.637-22732A>T) | |
| 15 | g.48497382T>C | CA392335897 | FBN1 | c.2177A>G (p.Glu726Gly) n.851A>G c.637-22732A>G (n.637-22732A>G) | ClinVar |
| 15 | g.48497382T>G | CA392335899 | FBN1 | c.2177A>C (p.Glu726Ala) n.851A>C c.637-22732A>C (n.637-22732A>C) | |
| 15 | g.48497382_48497383delinsTC | CA2175521436 | FBN1 | c.2176_2177delinsGA (p.Glu726=) n.850_851delinsGA c.637-22733_637-22732delinsGA (n.637-22733_637-22732delinsGA) | |
| 15 | g.48497383del | CA658824470 | FBN1 | c.2176del (p.Glu726AsnfsTer4) n.850del c.637-22733del (n.637-22733del) | ClinVar dbSNP |
| 15 | g.48497383C>A | CA392335904 | FBN1 | c.2176G>T (p.Glu726Ter) n.850G>T c.637-22733G>T (n.637-22733G>T) | |
| 15 | g.48497383C>G | CA392335906 | FBN1 | c.2176G>C (p.Glu726Gln) n.850G>C c.637-22733G>C (n.637-22733G>C) | ClinVar dbSNP |
| 15 | g.48497383C>T | CA392335901 | FBN1 | c.2176G>A (p.Glu726Lys) n.850G>A c.637-22733G>A (n.637-22733G>A) | |
| 15 | g.48497384A= | CA2175521438 | FBN1 | c.2175T= (p.Asn725=) n.849T= c.637-22734T= (n.637-22734T=) | |
| 15 | g.48497384A>C | CA392335909 | FBN1 | c.2175T>G (p.Asn725Lys) n.849T>G c.637-22734T>G (n.637-22734T>G) | |
| 15 | g.48497384A>G | CA012841 | FBN1 | c.2175T>C (p.Asn725=) n.849T>C c.637-22734T>C (n.637-22734T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497384A>T | CA392335912 | FBN1 | c.2175T>A (p.Asn725Lys) n.849T>A c.637-22734T>A (n.637-22734T>A) | |
| 15 | g.48497385T>A | CA392335914 | FBN1 | c.2174A>T (p.Asn725Ile) n.848A>T c.637-22735A>T (n.637-22735A>T) | |
| 15 | g.48497385T>C | CA392335916 | FBN1 | c.2174A>G (p.Asn725Ser) n.848A>G c.637-22735A>G (n.637-22735A>G) | dbSNP |
| 15 | g.48497385T>G | CA392335918 | FBN1 | c.2174A>C (p.Asn725Thr) n.848A>C c.637-22735A>C (n.637-22735A>C) | |
| 15 | g.48497385T= | CA2175521440 | FBN1 | c.2174A= (p.Asn725=) n.848A= c.637-22735A= (n.637-22735A=) | |
| 15 | g.48497386T>A | CA392335921 | FBN1 | c.2173A>T (p.Asn725Tyr) n.847A>T c.637-22736A>T (n.637-22736A>T) | |
| 15 | g.48497386T>C | CA392335925 | FBN1 | c.2173A>G (p.Asn725Asp) n.847A>G c.637-22736A>G (n.637-22736A>G) | |
| 15 | g.48497386T>G | CA392335923 | FBN1 | c.2173A>C (p.Asn725His) n.847A>C c.637-22736A>C (n.637-22736A>C) | |
| 15 | g.48497387T>A | CA490023654 | FBN1 | c.2172A>T (p.Ile724=) n.846A>T c.637-22737A>T (n.637-22737A>T) | |
| 15 | g.48497387T>C | CA392335927 | FBN1 | c.2172A>G (p.Ile724Met) n.846A>G c.637-22737A>G (n.637-22737A>G) | |
| 15 | g.48497387T>G | CA490023655 | FBN1 | c.2172A>C (p.Ile724=) n.846A>C c.637-22737A>C (n.637-22737A>C) | |
| 15 | g.48497388A= | CA2175521441 | FBN1 | c.2171T= (p.Ile724=) n.845T= c.637-22738T= (n.637-22738T=) | |
| 15 | g.48497388A>C | CA392335930 | FBN1 | c.2171T>G (p.Ile724Arg) n.845T>G c.637-22738T>G (n.637-22738T>G) | |
| 15 | g.48497388A>G | CA10583251 | FBN1 | c.2171T>C (p.Ile724Thr) n.845T>C c.637-22738T>C (n.637-22738T>C) | ClinVar dbSNP |
| 15 | g.48497388A>T | CA392335933 | FBN1 | c.2171T>A (p.Ile724Lys) n.845T>A c.637-22738T>A (n.637-22738T>A) | ClinVar |
| 15 | g.48497389T>A | CA392335936 | FBN1 | c.2170A>T (p.Ile724Leu) n.844A>T c.637-22739A>T (n.637-22739A>T) | |
| 15 | g.48497389T>C | CA047152 | FBN1 | c.2170A>G (p.Ile724Val) n.844A>G c.637-22739A>G (n.637-22739A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497389T>G | CA392335938 | FBN1 | c.2170A>C (p.Ile724Leu) n.844A>C c.637-22739A>C (n.637-22739A>C) | |
| 15 | g.48497389T= | CA2175521443 | FBN1 | c.2170A= (p.Ile724=) n.844A= c.637-22739A= (n.637-22739A=) | |
| 15 | g.48497390A>C | CA392335941 | FBN1 | c.2169T>G (p.Asp723Glu) n.843T>G c.637-22740T>G (n.637-22740T>G) | |
| 15 | g.48497390A>G | CA490023656 | FBN1 | c.2169T>C (p.Asp723=) n.843T>C c.637-22740T>C (n.637-22740T>C) | |
| 15 | g.48497390A>T | CA392335943 | FBN1 | c.2169T>A (p.Asp723Glu) n.843T>A c.637-22740T>A (n.637-22740T>A) | |
| 15 | g.48497391T>A | CA392335946 | FBN1 | c.2168A>T (p.Asp723Val) n.842A>T c.637-22741A>T (n.637-22741A>T) | |
| 15 | g.48497391T>C | CA392335948 | FBN1 | c.2168A>G (p.Asp723Gly) n.842A>G c.637-22741A>G (n.637-22741A>G) | ClinVar dbSNP |
| 15 | g.48497391T>G | CA012833 | FBN1 | c.2168A>C (p.Asp723Ala) n.842A>C c.637-22741A>C (n.637-22741A>C) | ClinVar dbSNP |
| 15 | g.48497391T= | CA2175521445 | FBN1 | c.2168A= (p.Asp723=) n.842A= c.637-22741A= (n.637-22741A=) | |
| 15 | g.48497392C>A | CA392335952 | FBN1 | c.2168-1G>T (n.2168-1G>T) n.842-1G>T c.637-22742G>T (n.637-22742G>T) | ClinVar dbSNP |
| 15 | g.48497392C= | CA2175521447 | FBN1 | c.2168-1G= (n.2168-1G=) n.842-1G= c.637-22742G= (n.637-22742G=) | |
| 15 | g.48497392C>G | CA392335954 | FBN1 | c.2168-1G>C (n.2168-1G>C) n.842-1G>C c.637-22742G>C (n.637-22742G>C) | ClinVar dbSNP |
| 15 | g.48497392C>T | CA392335956 | FBN1 | c.2168-1G>A (n.2168-1G>A) n.842-1G>A c.637-22742G>A (n.637-22742G>A) | |
| 15 | g.48497393T>A | CA392335958 | FBN1 | c.2168-2A>T (n.2168-2A>T) n.842-2A>T c.637-22743A>T (n.637-22743A>T) | |
| 15 | g.48497393T>C | CA392335960 | FBN1 | c.2168-2A>G (n.2168-2A>G) n.842-2A>G c.637-22743A>G (n.637-22743A>G) | ClinVar dbSNP |
| 15 | g.48497393T>G | CA392335961 | FBN1 | c.2168-2A>C (n.2168-2A>C) n.842-2A>C c.637-22743A>C (n.637-22743A>C) | |
| 15 | g.48497393T= | CA2175521449 | FBN1 | c.2168-2A= (n.2168-2A=) n.842-2A= c.637-22743A= (n.637-22743A=) | |
| 15 | g.48497394G>A | CA617838070 | FBN1 | c.2168-3C>T (n.2168-3C>T) n.842-3C>T c.637-22744C>T (n.637-22744C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497394G= | CA2175521450 | FBN1 | c.2168-3C= (n.2168-3C=) n.842-3C= c.637-22744C= (n.637-22744C=) | |
| 15 | g.48497395C>T | CA2499223007 | FBN1 | c.2168-4G>A (n.2168-4G>A) n.842-4G>A c.637-22745G>A (n.637-22745G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48497396A= | CA2175521453 | FBN1 | c.2168-5T= (n.2168-5T=) n.842-5T= c.637-22746T= (n.637-22746T=) | |
| 15 | g.48497396A>C | CA2175521452 | FBN1 | c.2168-5T>G (n.2168-5T>G) n.842-5T>G c.637-22746T>G (n.637-22746T>G) | dbSNP gnomAD v4 |
| 15 | g.48497397C= | CA2175521454 | FBN1 | c.2168-6G= (n.2168-6G=) n.842-6G= c.637-22747G= (n.637-22747G=) | |
| 15 | g.48497397C>T | CA047144 | FBN1 | c.2168-6G>A (n.2168-6G>A) n.842-6G>A c.637-22747G>A (n.637-22747G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497398C>G | CA2628335374 | FBN1 | c.2168-7G>C (n.2168-7G>C) n.842-7G>C c.637-22748G>C (n.637-22748G>C) | ClinVar gnomAD v4 |
| 15 | g.48497400_48497401del | CA047059 | FBN1 | c.2168-8_2168-7del (n.2168-8_2168-7del) n.842-8_842-7del c.637-22749_637-22748del (n.637-22749_637-22748del) | |
| 15 | g.48497400C>A | CA617838071 | FBN1 | c.2168-9G>T (n.2168-9G>T) n.842-9G>T c.637-22750G>T (n.637-22750G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497400C= | CA2175521456 | FBN1 | c.2168-9G= (n.2168-9G=) n.842-9G= c.637-22750G= (n.637-22750G=) | |
| 15 | g.48497400C>T | CA7547935 | FBN1 | c.2168-9G>A (n.2168-9G>A) n.842-9G>A c.637-22750G>A (n.637-22750G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497400_48497401delinsCA | CA2175521457 | FBN1 | c.2168-10_2168-9delinsTG (n.2168-10_2168-9delinsTG) n.842-10_842-9delinsTG c.637-22751_637-22750delinsTG (n.637-22751_637-22750delinsTG) | |
| 15 | g.48497406dup | CA7547934 | FBN1 | c.2168-10dup (n.2168-10dup) n.842-10dup c.637-22751dup (n.637-22751dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497406del | CA7547933 | FBN1 | c.2168-10del (n.2168-10del) n.842-10del c.637-22751del (n.637-22751del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497402A= | CA2175521460 | FBN1 | c.2168-11T= (n.2168-11T=) n.842-11T= c.637-22752T= (n.637-22752T=) | |
| 15 | g.48497402A>C | CA617838072 | FBN1 | c.2168-11T>G (n.2168-11T>G) n.842-11T>G c.637-22752T>G (n.637-22752T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497402A>G | CA047076 | FBN1 | c.2168-11T>C (n.2168-11T>C) n.842-11T>C c.637-22752T>C (n.637-22752T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497402A>T | CA617838073 | FBN1 | c.2168-11T>A (n.2168-11T>A) n.842-11T>A c.637-22752T>A (n.637-22752T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497405_48497408delinsAAGG | CA2175521461 | FBN1 | c.2168-17_2168-14delinsCCTT (n.2168-17_2168-14delinsCCTT) n.842-17_842-14delinsCCTT c.637-22758_637-22755delinsCCTT (n.637-22758_637-22755delinsCCTT) | |
| 15 | g.48497406A>C | CA2628335375 | FBN1 | c.2168-15T>G (n.2168-15T>G) n.842-15T>G c.637-22756T>G (n.637-22756T>G) | ClinVar gnomAD v4 |
| 15 | g.48497406_48497408del | CA617838074 | FBN1 | c.2168-17_2168-15del (n.2168-17_2168-15del) n.842-17_842-15del c.637-22758_637-22756del (n.637-22758_637-22756del) | dbSNP gnomAD v2 |
| 15 | g.48497407G>A | CA2628335376 | FBN1 | c.2168-16C>T (n.2168-16C>T) n.842-16C>T c.637-22757C>T (n.637-22757C>T) | gnomAD v4 |
| 15 | g.48497409T>A | CA713410526 | FBN1 | c.2168-18A>T (n.2168-18A>T) n.842-18A>T c.637-22759A>T (n.637-22759A>T) | dbSNP |
| 15 | g.48497409T= | CA2175521463 | FBN1 | c.2168-18A= (n.2168-18A=) n.842-18A= c.637-22759A= (n.637-22759A=) | |
| 15 | g.48497410C>A | CA047088 | FBN1 | c.2168-19G>T (n.2168-19G>T) n.842-19G>T c.637-22760G>T (n.637-22760G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497410C= | CA2175521464 | FBN1 | c.2168-19G= (n.2168-19G=) n.842-19G= c.637-22760G= (n.637-22760G=) | |
| 15 | g.48497410C>T | CA617838075 | FBN1 | c.2168-19G>A (n.2168-19G>A) n.842-19G>A c.637-22760G>A (n.637-22760G>A) | dbSNP gnomAD v2 |
| 15 | g.48497411A= | CA2175521466 | FBN1 | c.2168-20T= (n.2168-20T=) n.842-20T= c.637-22761T= (n.637-22761T=) | |
| 15 | g.48497411A>T | CA617838076 | FBN1 | c.2168-20T>A (n.2168-20T>A) n.842-20T>A c.637-22761T>A (n.637-22761T>A) | dbSNP gnomAD v2 |
| 15 | g.48497413A= | CA2175521467 | FBN1 | c.2168-22T= (n.2168-22T=) n.842-22T= c.637-22763T= (n.637-22763T=) | |
| 15 | g.48497413A>C | CA047096 | FBN1 | c.2168-22T>G (n.2168-22T>G) n.842-22T>G c.637-22763T>G (n.637-22763T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497414A>C | CA2628335377 | FBN1 | c.2168-23T>G (n.2168-23T>G) n.842-23T>G c.637-22764T>G (n.637-22764T>G) | gnomAD v4 |
| 15 | g.48497415T>A | CA047102 | FBN1 | c.2168-24A>T (n.2168-24A>T) n.842-24A>T c.637-22765A>T (n.637-22765A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497415T= | CA2175521469 | FBN1 | c.2168-24A= (n.2168-24A=) n.842-24A= c.637-22765A= (n.637-22765A=) | |
| 15 | g.48497417A>C | CA2628335378 | FBN1 | c.2168-26T>G (n.2168-26T>G) n.842-26T>G c.637-22767T>G (n.637-22767T>G) | gnomAD v4 |
| 15 | g.48497418A= | CA2175521470 | FBN1 | c.2168-27T= (n.2168-27T=) n.842-27T= c.637-22768T= (n.637-22768T=) | |
| 15 | g.48497418A>G | CA047112 | FBN1 | c.2168-27T>C (n.2168-27T>C) n.842-27T>C c.637-22768T>C (n.637-22768T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497420del | CA2628335379 | FBN1 | c.2168-28del (n.2168-28del) n.842-28del c.637-22769del (n.637-22769del) | gnomAD v4 |
| 15 | g.48497420T>A | CA713410538 | FBN1 | c.2168-29A>T (n.2168-29A>T) n.842-29A>T c.637-22770A>T (n.637-22770A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48497420T>C | CA2628335380 | FBN1 | c.2168-29A>G (n.2168-29A>G) n.842-29A>G c.637-22770A>G (n.637-22770A>G) | gnomAD v4 |
| 15 | g.48497420T= | CA2175521471 | FBN1 | c.2168-29A= (n.2168-29A=) n.842-29A= c.637-22770A= (n.637-22770A=) | |
| 15 | g.48497421A= | CA2175521473 | FBN1 | c.2168-30T= (n.2168-30T=) n.842-30T= c.637-22771T= (n.637-22771T=) | |
| 15 | g.48497421A>G | CA047120 | FBN1 | c.2168-30T>C (n.2168-30T>C) n.842-30T>C c.637-22771T>C (n.637-22771T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497422A= | CA2175521475 | FBN1 | c.2168-31T= (n.2168-31T=) n.842-31T= c.637-22772T= (n.637-22772T=) | |
| 15 | g.48497422A>G | CA2175521474 | FBN1 | c.2168-31T>C (n.2168-31T>C) n.842-31T>C c.637-22772T>C (n.637-22772T>C) | dbSNP gnomAD v4 |
| 15 | g.48497423G>C | CA2628335382 | FBN1 | c.2168-32C>G (n.2168-32C>G) n.842-32C>G c.637-22773C>G (n.637-22773C>G) | gnomAD v4 |
| 15 | g.48497423G>T | CA2628335381 | FBN1 | c.2168-32C>A (n.2168-32C>A) n.842-32C>A c.637-22773C>A (n.637-22773C>A) | gnomAD v4 |
| 15 | g.48497424A= | CA2175521476 | FBN1 | c.2168-33T= (n.2168-33T=) n.842-33T= c.637-22774T= (n.637-22774T=) | |
| 15 | g.48497424A>G | CA617838267 | FBN1 | c.2168-33T>C (n.2168-33T>C) n.842-33T>C c.637-22774T>C (n.637-22774T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497425_48497438del | CA2575717432 | FBN1 | c.2168-46_2168-33del (n.2168-46_2168-33del) n.842-46_842-33del c.637-22787_637-22774del (n.637-22787_637-22774del) | gnomAD v4 |
| 15 | g.48497426del | CA2628335383 | FBN1 | c.2168-34del (n.2168-34del) n.842-34del c.637-22775del (n.637-22775del) | gnomAD v4 |
| 15 | g.48497427A>G | CA2628335384 | FBN1 | c.2168-36T>C (n.2168-36T>C) n.842-36T>C c.637-22777T>C (n.637-22777T>C) | dbSNP gnomAD v4 |
| 15 | g.48497428T>A | CA2628335385 | FBN1 | c.2168-37A>T (n.2168-37A>T) n.842-37A>T c.637-22778A>T (n.637-22778A>T) | gnomAD v4 |
| 15 | g.48497428T>C | CA2628335386 | FBN1 | c.2168-37A>G (n.2168-37A>G) n.842-37A>G c.637-22778A>G (n.637-22778A>G) | gnomAD v4 |
| 15 | g.48497432del | CA2628335387 | FBN1 | c.2168-38del (n.2168-38del) n.842-38del c.637-22779del (n.637-22779del) | gnomAD v4 |
| 15 | g.48497429_48497433delinsAAAAT | CA2175521478 | FBN1 | c.2168-42_2168-38delinsATTTT (n.2168-42_2168-38delinsATTTT) n.842-42_842-38delinsATTTT c.637-22783_637-22779delinsATTTT (n.637-22783_637-22779delinsATTTT) | |
| 15 | g.48497430A= | CA2175521479 | FBN1 | c.2168-39T= (n.2168-39T=) n.842-39T= c.637-22780T= (n.637-22780T=) | |
| 15 | g.48497430A>C | CA2175521480 | FBN1 | c.2168-39T>G (n.2168-39T>G) n.842-39T>G c.637-22780T>G (n.637-22780T>G) | dbSNP |
| 15 | g.48497435_48497438del | CA617838268 | FBN1 | c.2168-42_2168-39del (n.2168-42_2168-39del) n.842-42_842-39del c.637-22783_637-22780del (n.637-22783_637-22780del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497432A>T | CA2628335388 | FBN1 | c.2168-41T>A (n.2168-41T>A) n.842-41T>A c.637-22782T>A (n.637-22782T>A) | gnomAD v4 |
| 15 | g.48497433T>A | CA047133 | FBN1 | c.2168-42A>T (n.2168-42A>T) n.842-42A>T c.637-22783A>T (n.637-22783A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497433T>C | CA2575717435 | FBN1 | c.2168-42A>G (n.2168-42A>G) n.842-42A>G c.637-22783A>G (n.637-22783A>G) | |
| 15 | g.48497433T= | CA2175521481 | FBN1 | c.2168-42A= (n.2168-42A=) n.842-42A= c.637-22783A= (n.637-22783A=) | |
| 15 | g.48497437T>A | CA2581198468 | FBN1 | c.2168-46A>T (n.2168-46A>T) n.842-46A>T c.637-22787A>T (n.637-22787A>T) | |
| 15 | g.48497437T>C | CA047137 | FBN1 | c.2168-46A>G (n.2168-46A>G) n.842-46A>G c.637-22787A>G (n.637-22787A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497437T>G | CA2581198469 | FBN1 | c.2168-46A>C (n.2168-46A>C) n.842-46A>C c.637-22787A>C (n.637-22787A>C) | |
| 15 | g.48497437T= | CA2175521482 | FBN1 | c.2168-46A= (n.2168-46A=) n.842-46A= c.637-22787A= (n.637-22787A=) | |
| 15 | g.48497438A>G | CA2628335389 | FBN1 | c.2168-47T>C (n.2168-47T>C) n.842-47T>C c.637-22788T>C (n.637-22788T>C) | gnomAD v4 |
| 15 | g.48497439_48497440delinsCT | CA2175521483 | FBN1 | c.2168-49_2168-48delinsAG (n.2168-49_2168-48delinsAG) n.842-49_842-48delinsAG c.637-22790_637-22789delinsAG (n.637-22790_637-22789delinsAG) | |
| 15 | g.48497439_48497443delinsCTGAA | CA2175521484 | FBN1 | c.2168-52_2168-48delinsTTCAG (n.2168-52_2168-48delinsTTCAG) n.842-52_842-48delinsTTCAG c.637-22793_637-22789delinsTTCAG (n.637-22793_637-22789delinsTTCAG) | |
| 15 | g.48497440del | CA617838273 | FBN1 | c.2168-49del (n.2168-49del) n.842-49del c.637-22790del (n.637-22790del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497440T>A | CA2175521486 | FBN1 | c.2168-49A>T (n.2168-49A>T) n.842-49A>T c.637-22790A>T (n.637-22790A>T) | dbSNP |
| 15 | g.48497440T>C | CA2628335390 | FBN1 | c.2168-49A>G (n.2168-49A>G) n.842-49A>G c.637-22790A>G (n.637-22790A>G) | gnomAD v4 |
| 15 | g.48497440T= | CA2175521485 | FBN1 | c.2168-49A= (n.2168-49A=) n.842-49A= c.637-22790A= (n.637-22790A=) | |
| 15 | g.48497445_48497448del | CA617838274 | FBN1 | c.2168-52_2168-49del (n.2168-52_2168-49del) n.842-52_842-49del c.637-22793_637-22790del (n.637-22793_637-22790del) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497441G>A | CA2628335391 | FBN1 | c.2168-50C>T (n.2168-50C>T) n.842-50C>T c.637-22791C>T (n.637-22791C>T) | gnomAD v4 |
| 15 | g.48497441G>T | CA2628335392 | FBN1 | c.2168-50C>A (n.2168-50C>A) n.842-50C>A c.637-22791C>A (n.637-22791C>A) | gnomAD v4 |
| 15 | g.48497442A>G | CA2628335393 | FBN1 | c.2168-51T>C (n.2168-51T>C) n.842-51T>C c.637-22792T>C (n.637-22792T>C) | gnomAD v4 |
| 15 | g.48497443A= | CA2175521487 | FBN1 | c.2168-52T= (n.2168-52T=) n.842-52T= c.637-22793T= (n.637-22793T=) | |
| 15 | g.48497443A>G | CA617838277 | FBN1 | c.2168-52T>C (n.2168-52T>C) n.842-52T>C c.637-22793T>C (n.637-22793T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497443_48497444dup | CA2575717442 | FBN1 | c.2168-53_2168-52dup (n.2168-53_2168-52dup) n.842-53_842-52dup c.637-22794_637-22793dup (n.637-22794_637-22793dup) |