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.48526103_48526114delinsATGCATGCTGTT | CA2175542881 | FBN1 | c.988+16_988+27delinsAACAGCATGCAT (n.988+16_988+27delinsAACAGCATGCAT) c.636+11597_636+11608delinsAACAGCATGCAT (n.636+11597_636+11608delinsAACAGCATGCAT) | |
| 15 | g.48526106_48526116del | CA713425363 | FBN1 | c.988+16_988+26del (n.988+16_988+26del) c.636+11597_636+11607del (n.636+11597_636+11607del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48526114T>A | CA269566874 | FBN1 | c.988+16A>T (n.988+16A>T) c.636+11597A>T (n.636+11597A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48526114T>C | CA617841428 | FBN1 | c.988+16A>G (n.988+16A>G) c.636+11597A>G (n.636+11597A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526114T= | CA2175542905 | FBN1 | c.988+16A= (n.988+16A=) c.636+11597A= (n.636+11597A=) | |
| 15 | g.48526115T>C | CA269566879 | FBN1 | c.988+15A>G (n.988+15A>G) c.636+11596A>G (n.636+11596A>G) | dbSNP gnomAD v4 |
| 15 | g.48526115T= | CA2175542907 | FBN1 | c.988+15A= (n.988+15A=) c.636+11596A= (n.636+11596A=) | |
| 15 | g.48526116G= | CA2175542908 | FBN1 | c.988+14C= (n.988+14C=) c.636+11595C= (n.636+11595C=) | |
| 15 | g.48526116G>T | CA269566881 | FBN1 | c.988+14C>A (n.988+14C>A) c.636+11595C>A (n.636+11595C>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48526117T>C | CA269566882 | FBN1 | c.988+13A>G (n.988+13A>G) c.636+11594A>G (n.636+11594A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48526117T= | CA2175542910 | FBN1 | c.988+13A= (n.988+13A=) c.636+11594A= (n.636+11594A=) | |
| 15 | g.48526117_48526118insGTG | CA2628336822 | FBN1 | c.988+12_988+13insCAC (n.988+12_988+13insCAC) c.636+11593_636+11594insCAC (n.636+11593_636+11594insCAC) | gnomAD v4 |
| 15 | g.48526119A= | CA2175542912 | FBN1 | c.988+11T= (n.988+11T=) c.636+11592T= (n.636+11592T=) | |
| 15 | g.48526119A>C | CA2175542913 | FBN1 | c.988+11T>G (n.988+11T>G) c.636+11592T>G (n.636+11592T>G) | ClinVar dbSNP |
| 15 | g.48526119A>G | CA2175542914 | FBN1 | c.988+11T>C (n.988+11T>C) c.636+11592T>C (n.636+11592T>C) | dbSNP |
| 15 | g.48526121T>C | CA2575717659 | FBN1 | c.988+9A>G (n.988+9A>G) c.636+11590A>G (n.636+11590A>G) | |
| 15 | g.48526121T>G | CA913191216 | FBN1 | c.988+9A>C (n.988+9A>C) c.636+11590A>C (n.636+11590A>C) | ClinVar dbSNP |
| 15 | g.48526121T= | CA2175542917 | FBN1 | c.988+9A= (n.988+9A=) c.636+11590A= (n.636+11590A=) | |
| 15 | g.48526126C>G | CA2518650656 | FBN1 | c.988+4G>C (n.988+4G>C) c.636+11585G>C (n.636+11585G>C) | |
| 15 | g.48526127T>C | CA2575717660 | FBN1 | c.988+3A>G (n.988+3A>G) c.636+11584A>G (n.636+11584A>G) | ClinVar gnomAD v4 |
| 15 | g.48526128A>C | CA392349437 | FBN1 | c.988+2T>G (n.988+2T>G) c.636+11583T>G (n.636+11583T>G) | |
| 15 | g.48526128A>G | CA392349439 | FBN1 | c.988+2T>C (n.988+2T>C) c.636+11583T>C (n.636+11583T>C) | |
| 15 | g.48526128A>T | CA392349441 | FBN1 | c.988+2T>A (n.988+2T>A) c.636+11583T>A (n.636+11583T>A) | |
| 15 | g.48526129C>A | CA392349444 | FBN1 | c.988+1G>T (n.988+1G>T) c.636+11582G>T (n.636+11582G>T) | |
| 15 | g.48526129C>G | CA392349448 | FBN1 | c.988+1G>C (n.988+1G>C) c.636+11582G>C (n.636+11582G>C) | |
| 15 | g.48526129C>T | CA392349446 | FBN1 | c.988+1G>A (n.988+1G>A) c.636+11582G>A (n.636+11582G>A) | |
| 15 | g.48526130C>A | CA392349451 | FBN1 | c.988G>T (p.Asp330Tyr) c.636+11581G>T (n.636+11581G>T) | |
| 15 | g.48526130C>G | CA392349452 | FBN1 | c.988G>C (p.Asp330His) c.636+11581G>C (n.636+11581G>C) | |
| 15 | g.48526130C>T | CA392349455 | FBN1 | c.988G>A (p.Asp330Asn) c.636+11581G>A (n.636+11581G>A) | |
| 15 | g.48526131T>A | CA490028560 | FBN1 | c.987A>T (p.Ile329=) c.636+11580A>T (n.636+11580A>T) | |
| 15 | g.48526131T>C | CA392349457 | FBN1 | c.987A>G (p.Ile329Met) c.636+11580A>G (n.636+11580A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526131T>G | CA490028561 | FBN1 | c.987A>C (p.Ile329=) c.636+11580A>C (n.636+11580A>C) | |
| 15 | g.48526131T= | CA2175542919 | FBN1 | c.987A= (p.Ile329=) c.636+11580A= (n.636+11580A=) | |
| 15 | g.48526132A= | CA2175542923 | FBN1 | c.986T= (p.Ile329=) c.636+11579T= (n.636+11579T=) | |
| 15 | g.48526132A>C | CA392349460 | FBN1 | c.986T>G (p.Ile329Arg) c.636+11579T>G (n.636+11579T>G) | |
| 15 | g.48526132A>G | CA017862 | FBN1 | c.986T>C (p.Ile329Thr) c.636+11579T>C (n.636+11579T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526132A>T | CA392349462 | FBN1 | c.986T>A (p.Ile329Lys) c.636+11579T>A (n.636+11579T>A) | |
| 15 | g.48526132dup | CA2695220345 | FBN1 | c.986dup (p.Asp330ArgfsTer18) c.636+11579dup (n.636+11579dup) | |
| 15 | g.48526133T>A | CA392349466 | FBN1 | c.985A>T (p.Ile329Leu) c.636+11578A>T (n.636+11578A>T) | |
| 15 | g.48526133T>C | CA269566885 | FBN1 | c.985A>G (p.Ile329Val) c.636+11578A>G (n.636+11578A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526133T>G | CA392349472 | FBN1 | c.985A>C (p.Ile329Leu) c.636+11578A>C (n.636+11578A>C) | |
| 15 | g.48526133T= | CA2175542928 | FBN1 | c.985A= (p.Ile329=) c.636+11578A= (n.636+11578A=) | |
| 15 | g.48526134G>A | CA490028562 | FBN1 | c.984C>T (p.Cys328=) c.636+11577C>T (n.636+11577C>T) | |
| 15 | g.48526134G>C | CA392349473 | FBN1 | c.984C>G (p.Cys328Trp) c.636+11577C>G (n.636+11577C>G) | |
| 15 | g.48526134G>T | CA392349474 | FBN1 | c.984C>A (p.Cys328Ter) c.636+11577C>A (n.636+11577C>A) | ClinVar dbSNP |
| 15 | g.48526134_48526144delinsGCATCTGGTAC | CA2175542932 | FBN1 | c.974_984delinsGTACCAGATGC (p.Gly325=) c.636+11567_636+11577delinsGTACCAGATGC (n.636+11567_636+11577delinsGTACCAGATGC) | |
| 15 | g.48526135C>A | CA392349475 | FBN1 | c.983G>T (p.Cys328Phe) c.636+11576G>T (n.636+11576G>T) | |
| 15 | g.48526135C>G | CA392349476 | FBN1 | c.983G>C (p.Cys328Ser) c.636+11576G>C (n.636+11576G>C) | |
| 15 | g.48526135C>T | CA392349478 | FBN1 | c.983G>A (p.Cys328Tyr) c.636+11576G>A (n.636+11576G>A) | |
| 15 | g.48526137_48526138insACAT | CA2695220348 | FBN1 | c.983_984insTATG (p.Ile329MetfsTer20) c.636+11576_636+11577insTATG (n.636+11576_636+11577insTATG) | |
| 15 | g.48526142_48526151del | CA913191217 | FBN1 | c.974_983del (p.Gly325AlafsTer2) c.636+11567_636+11576del (n.636+11567_636+11576del) | ClinVar dbSNP |
| 15 | g.48526136A>C | CA392349482 | FBN1 | c.982T>G (p.Cys328Gly) c.636+11575T>G (n.636+11575T>G) | |
| 15 | g.48526136A>G | CA392349499 | FBN1 | c.982T>C (p.Cys328Arg) c.636+11575T>C (n.636+11575T>C) | |
| 15 | g.48526136A>T | CA392349501 | FBN1 | c.982T>A (p.Cys328Ser) c.636+11575T>A (n.636+11575T>A) | |
| 15 | g.48526137T>A | CA060469 | FBN1 | c.981A>T (p.Arg327Ser) c.636+11574A>T (n.636+11574A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526137T>C | CA490028563 | FBN1 | c.981A>G (p.Arg327=) c.636+11574A>G (n.636+11574A>G) | |
| 15 | g.48526137T>G | CA392349504 | FBN1 | c.981A>C (p.Arg327Ser) c.636+11574A>C (n.636+11574A>C) | |
| 15 | g.48526137T= | CA2175542936 | FBN1 | c.981A= (p.Arg327=) c.636+11574A= (n.636+11574A=) | |
| 15 | g.48526138C>A | CA392349514 | FBN1 | c.980G>T (p.Arg327Ile) c.636+11573G>T (n.636+11573G>T) | |
| 15 | g.48526138C= | CA2175542940 | FBN1 | c.980G= (p.Arg327=) c.636+11573G= (n.636+11573G=) | |
| 15 | g.48526138C>G | CA060463 | FBN1 | c.980G>C (p.Arg327Thr) c.636+11573G>C (n.636+11573G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526138C>T | CA392349517 | FBN1 | c.980G>A (p.Arg327Lys) c.636+11573G>A (n.636+11573G>A) | dbSNP gnomAD v2 |
| 15 | g.48526139T>A | CA392349530 | FBN1 | c.979A>T (p.Arg327Ter) c.636+11572A>T (n.636+11572A>T) | |
| 15 | g.48526139T>C | CA392349534 | FBN1 | c.979A>G (p.Arg327Gly) c.636+11572A>G (n.636+11572A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48526139T>G | CA490028564 | FBN1 | c.979A>C (p.Arg327=) c.636+11572A>C (n.636+11572A>C) | |
| 15 | g.48526139T= | CA2175542944 | FBN1 | c.979A= (p.Arg327=) c.636+11572A= (n.636+11572A=) | |
| 15 | g.48526139_48526140delinsTG | CA2175542942 | FBN1 | c.978_979delinsCA (p.Thr326=) c.636+11571_636+11572delinsCA (n.636+11571_636+11572delinsCA) | |
| 15 | g.48526140G>A | CA490028565 | FBN1 | c.978C>T (p.Thr326=) c.636+11571C>T (n.636+11571C>T) | ClinVar dbSNP |
| 15 | g.48526140G>C | CA490028566 | FBN1 | c.978C>G (p.Thr326=) c.636+11571C>G (n.636+11571C>G) | |
| 15 | g.48526140G= | CA2175542951 | FBN1 | c.978C= (p.Thr326=) c.636+11571C= (n.636+11571C=) | |
| 15 | g.48526140G>T | CA490028567 | FBN1 | c.978C>A (p.Thr326=) c.636+11571C>A (n.636+11571C>A) | gnomAD v4 |
| 15 | g.48526141del | CA16614454 | FBN1 | c.978del (p.Arg327AspfsTer3) c.636+11571del (n.636+11571del) | ClinVar dbSNP |
| 15 | g.48526141G>A | CA392349539 | FBN1 | c.977C>T (p.Thr326Ile) c.636+11570C>T (n.636+11570C>T) | |
| 15 | g.48526141G>C | CA392349543 | FBN1 | c.977C>G (p.Thr326Ser) c.636+11570C>G (n.636+11570C>G) | |
| 15 | g.48526141G>T | CA392349547 | FBN1 | c.977C>A (p.Thr326Asn) c.636+11570C>A (n.636+11570C>A) | |
| 15 | g.48526142del | CA2695220349 | FBN1 | c.976del (p.Thr326ProfsTer4) c.636+11569del (n.636+11569del) | |
| 15 | g.48526142T>A | CA392349555 | FBN1 | c.976A>T (p.Thr326Ser) c.636+11569A>T (n.636+11569A>T) | gnomAD v4 |
| 15 | g.48526142T>C | CA060458 | FBN1 | c.976A>G (p.Thr326Ala) c.636+11569A>G (n.636+11569A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526142T>G | CA392349561 | FBN1 | c.976A>C (p.Thr326Pro) c.636+11569A>C (n.636+11569A>C) | |
| 15 | g.48526142T= | CA2175542960 | FBN1 | c.976A= (p.Thr326=) c.636+11569A= (n.636+11569A=) | |
| 15 | g.48526143A= | CA2175542964 | FBN1 | c.975T= (p.Gly325=) c.636+11568T= (n.636+11568T=) | |
| 15 | g.48526143A>C | CA490028568 | FBN1 | c.975T>G (p.Gly325=) c.636+11568T>G (n.636+11568T>G) | |
| 15 | g.48526143A>G | CA490028569 | FBN1 | c.975T>C (p.Gly325=) c.636+11568T>C (n.636+11568T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48526143A>T | CA490028570 | FBN1 | c.975T>A (p.Gly325=) c.636+11568T>A (n.636+11568T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48526144C>A | CA392349581 | FBN1 | c.974G>T (p.Gly325Val) c.636+11567G>T (n.636+11567G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48526144C= | CA2175542967 | FBN1 | c.974G= (p.Gly325=) c.636+11567G= (n.636+11567G=) | |
| 15 | g.48526144C>G | CA060453 | FBN1 | c.974G>C (p.Gly325Ala) c.636+11567G>C (n.636+11567G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526144C>T | CA392349589 | FBN1 | c.974G>A (p.Gly325Asp) c.636+11567G>A (n.636+11567G>A) | |
| 15 | g.48526145C>A | CA392349600 | FBN1 | c.973G>T (p.Gly325Cys) c.636+11566G>T (n.636+11566G>T) | |
| 15 | g.48526145C>G | CA392349601 | FBN1 | c.973G>C (p.Gly325Arg) c.636+11566G>C (n.636+11566G>C) | |
| 15 | g.48526145C>T | CA392349615 | FBN1 | c.973G>A (p.Gly325Ser) c.636+11566G>A (n.636+11566G>A) | |
| 15 | g.48526146A= | CA2175542970 | FBN1 | c.972T= (p.Asp324=) c.636+11565T= (n.636+11565T=) | |
| 15 | g.48526146A>C | CA392349623 | FBN1 | c.972T>G (p.Asp324Glu) c.636+11565T>G (n.636+11565T>G) | |
| 15 | g.48526146A>G | CA060445 | FBN1 | c.972T>C (p.Asp324=) c.636+11565T>C (n.636+11565T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526146A>T | CA392349627 | FBN1 | c.972T>A (p.Asp324Glu) c.636+11565T>A (n.636+11565T>A) | |
| 15 | g.48526147T>A | CA060436 | FBN1 | c.971A>T (p.Asp324Val) c.636+11564A>T (n.636+11564A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526147T>C | CA060434 | FBN1 | c.971A>G (p.Asp324Gly) c.636+11564A>G (n.636+11564A>G) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.48526147T>G | CA392349638 | FBN1 | c.971A>C (p.Asp324Ala) c.636+11564A>C (n.636+11564A>C) | |
| 15 | g.48526147T= | CA2175542973 | FBN1 | c.971A= (p.Asp324=) c.636+11564A= (n.636+11564A=) | |
| 15 | g.48526148C>A | CA392349641 | FBN1 | c.970G>T (p.Asp324Tyr) c.636+11563G>T (n.636+11563G>T) | |
| 15 | g.48526148C= | CA2175542975 | FBN1 | c.970G= (p.Asp324=) c.636+11563G= (n.636+11563G=) | |
| 15 | g.48526148C>G | CA392349646 | FBN1 | c.970G>C (p.Asp324His) c.636+11563G>C (n.636+11563G>C) | gnomAD v4 |
| 15 | g.48526148C>T | CA060428 | FBN1 | c.970G>A (p.Asp324Asn) c.636+11563G>A (n.636+11563G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526149T>A | CA490028571 | FBN1 | c.969A>T (p.Pro323=) c.636+11562A>T (n.636+11562A>T) | |
| 15 | g.48526149T>C | CA060425 | FBN1 | c.969A>G (p.Pro323=) c.636+11562A>G (n.636+11562A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526149T>G | CA490028572 | FBN1 | c.969A>C (p.Pro323=) c.636+11562A>C (n.636+11562A>C) | |
| 15 | g.48526149T= | CA2175542979 | FBN1 | c.969A= (p.Pro323=) c.636+11562A= (n.636+11562A=) | |
| 15 | g.48526149delinsGG | CA2580089609 | FBN1 | c.969delinsCC (p.Asp324ArgfsTer24) c.636+11562delinsCC (n.636+11562delinsCC) | ClinVar |
| 15 | g.48526150G>A | CA392349653 | FBN1 | c.968C>T (p.Pro323Leu) c.636+11561C>T (n.636+11561C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526150G>C | CA392349656 | FBN1 | c.968C>G (p.Pro323Arg) c.636+11561C>G (n.636+11561C>G) | |
| 15 | g.48526150G= | CA2175542986 | FBN1 | c.968C= (p.Pro323=) c.636+11561C= (n.636+11561C=) | |
| 15 | g.48526150G>T | CA392349659 | FBN1 | c.968C>A (p.Pro323Gln) c.636+11561C>A (n.636+11561C>A) | |
| 15 | g.48526151G>A | CA392349662 | FBN1 | c.967C>T (p.Pro323Ser) c.636+11560C>T (n.636+11560C>T) | |
| 15 | g.48526151G>C | CA392349665 | FBN1 | c.967C>G (p.Pro323Ala) c.636+11560C>G (n.636+11560C>G) | |
| 15 | g.48526151G>T | CA392349661 | FBN1 | c.967C>A (p.Pro323Thr) c.636+11560C>A (n.636+11560C>A) | |
| 15 | g.48526152A>C | CA490028575 | FBN1 | c.966T>G (p.Ser322=) c.636+11559T>G (n.636+11559T>G) | |
| 15 | g.48526152A>G | CA490028573 | FBN1 | c.966T>C (p.Ser322=) c.636+11559T>C (n.636+11559T>C) | |
| 15 | g.48526152A>T | CA490028574 | FBN1 | c.966T>A (p.Ser322=) c.636+11559T>A (n.636+11559T>A) | |
| 15 | g.48526153G>A | CA7547942 | FBN1 | c.965C>T (p.Ser322Phe) c.636+11558C>T (n.636+11558C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526153G>C | CA392349676 | FBN1 | c.965C>G (p.Ser322Cys) c.636+11558C>G (n.636+11558C>G) | |
| 15 | g.48526153G= | CA2175542989 | FBN1 | c.965C= (p.Ser322=) c.636+11558C= (n.636+11558C=) | |
| 15 | g.48526153G>T | CA392349698 | FBN1 | c.965C>A (p.Ser322Tyr) c.636+11558C>A (n.636+11558C>A) | COSMIC |
| 15 | g.48526153_48526154delinsGA | CA2175542990 | FBN1 | c.964_965delinsTC (p.Ser322=) c.636+11557_636+11558delinsTC (n.636+11557_636+11558delinsTC) | |
| 15 | g.48526154del | CA7547943 | FBN1 | c.964del (p.Ser322LeufsTer8) c.636+11557del (n.636+11557del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48526154A>C | CA392349708 | FBN1 | c.964T>G (p.Ser322Ala) c.636+11557T>G (n.636+11557T>G) | |
| 15 | g.48526154A>G | CA392349712 | FBN1 | c.964T>C (p.Ser322Pro) c.636+11557T>C (n.636+11557T>C) | |
| 15 | g.48526154A>T | CA392349714 | FBN1 | c.964T>A (p.Ser322Thr) c.636+11557T>A (n.636+11557T>A) | |
| 15 | g.48526155G>A | CA060406 | FBN1 | c.963C>T (p.Thr321=) c.636+11556C>T (n.636+11556C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48526155G>C | CA490028576 | FBN1 | c.963C>G (p.Thr321=) c.636+11556C>G (n.636+11556C>G) | ClinVar dbSNP |
| 15 | g.48526155G= | CA2175542995 | FBN1 | c.963C= (p.Thr321=) c.636+11556C= (n.636+11556C=) | |
| 15 | g.48526155G>T | CA490028577 | FBN1 | c.963C>A (p.Thr321=) c.636+11556C>A (n.636+11556C>A) | |
| 15 | g.48526156del | CA2580089611 | FBN1 | c.963del (p.Ser322LeufsTer8) c.636+11556del (n.636+11556del) | ClinVar |
| 15 | g.48526155_48526157delinsGGT | CA2175542999 | FBN1 | c.961_963delinsACC (p.Thr321=) c.636+11554_636+11556delinsACC (n.636+11554_636+11556delinsACC) | |
| 15 | g.48526156G>A | CA392349729 | FBN1 | c.962C>T (p.Thr321Ile) c.636+11555C>T (n.636+11555C>T) | ClinVar dbSNP |
| 15 | g.48526156G>C | CA392349731 | FBN1 | c.962C>G (p.Thr321Ser) c.636+11555C>G (n.636+11555C>G) | |
| 15 | g.48526156G= | CA2175543004 | FBN1 | c.962C= (p.Thr321=) c.636+11555C= (n.636+11555C=) | |
| 15 | g.48526156G>T | CA392349736 | FBN1 | c.962C>A (p.Thr321Asn) c.636+11555C>A (n.636+11555C>A) | |
| 15 | g.48526158_48526159del | CA658824881 | FBN1 | c.961_962del (p.Thr321LeufsTer26) c.636+11554_636+11555del (n.636+11554_636+11555del) | ClinVar dbSNP |
| 15 | g.48526157T>A | CA392349742 | FBN1 | c.961A>T (p.Thr321Ser) c.636+11554A>T (n.636+11554A>T) | |
| 15 | g.48526157T>C | CA392349746 | FBN1 | c.961A>G (p.Thr321Ala) c.636+11554A>G (n.636+11554A>G) | |
| 15 | g.48526157T>G | CA392349739 | FBN1 | c.961A>C (p.Thr321Pro) c.636+11554A>C (n.636+11554A>C) | |
| 15 | g.48526157dup | CA2695220351 | FBN1 | c.961dup (p.Thr321AsnfsTer27) c.636+11554dup (n.636+11554dup) | |
| 15 | g.48526158G>A | CA490028578 | FBN1 | c.960C>T (p.Tyr320=) c.636+11553C>T (n.636+11553C>T) | gnomAD v4 |
| 15 | g.48526158G>C | CA392349749 | FBN1 | c.960C>G (p.Tyr320Ter) c.636+11553C>G (n.636+11553C>G) | |
| 15 | g.48526158G= | CA2175543008 | FBN1 | c.960C= (p.Tyr320=) c.636+11553C= (n.636+11553C=) | |
| 15 | g.48526158G>T | CA392349750 | FBN1 | c.960C>A (p.Tyr320Ter) c.636+11553C>A (n.636+11553C>A) | ClinVar dbSNP |
| 15 | g.48526159T>A | CA392349753 | FBN1 | c.959A>T (p.Tyr320Phe) c.636+11552A>T (n.636+11552A>T) | |
| 15 | g.48526159T>C | CA392349759 | FBN1 | c.959A>G (p.Tyr320Cys) c.636+11552A>G (n.636+11552A>G) | |
| 15 | g.48526159T>G | CA392349765 | FBN1 | c.959A>C (p.Tyr320Ser) c.636+11552A>C (n.636+11552A>C) | |
| 15 | g.48526159T= | CA2175543017 | FBN1 | c.959A= (p.Tyr320=) c.636+11552A= (n.636+11552A=) | |
| 15 | g.48526159dup | CA658824882 | FBN1 | c.959dup (p.Tyr320Ter) c.636+11552dup (n.636+11552dup) | ClinVar dbSNP |
| 15 | g.48526160A>C | CA392349767 | FBN1 | c.958T>G (p.Tyr320Asp) c.636+11551T>G (n.636+11551T>G) | |
| 15 | g.48526160A>G | CA392349771 | FBN1 | c.958T>C (p.Tyr320His) c.636+11551T>C (n.636+11551T>C) | |
| 15 | g.48526160A>T | CA392349769 | FBN1 | c.958T>A (p.Tyr320Asn) c.636+11551T>A (n.636+11551T>A) | |
| 15 | g.48526164dup | CA017854 | FBN1 | c.958dup (p.Tyr320LeufsTer28) c.636+11551dup (n.636+11551dup) | ClinVar dbSNP |
| 15 | g.48526161A>C | CA392349779 | FBN1 | c.957T>G (p.Phe319Leu) c.636+11550T>G (n.636+11550T>G) | |
| 15 | g.48526161A>G | CA490028579 | FBN1 | c.957T>C (p.Phe319=) c.636+11550T>C (n.636+11550T>C) | |
| 15 | g.48526161A>T | CA392349786 | FBN1 | c.957T>A (p.Phe319Leu) c.636+11550T>A (n.636+11550T>A) | |
| 15 | g.48526162A>C | CA392349790 | FBN1 | c.956T>G (p.Phe319Cys) c.636+11549T>G (n.636+11549T>G) | |
| 15 | g.48526162A>G | CA392349794 | FBN1 | c.956T>C (p.Phe319Ser) c.636+11549T>C (n.636+11549T>C) | |
| 15 | g.48526162A>T | CA392349797 | FBN1 | c.956T>A (p.Phe319Tyr) c.636+11549T>A (n.636+11549T>A) | |
| 15 | g.48526163A>C | CA392349802 | FBN1 | c.955T>G (p.Phe319Val) c.636+11548T>G (n.636+11548T>G) | |
| 15 | g.48526163A>G | CA392349799 | FBN1 | c.955T>C (p.Phe319Leu) c.636+11548T>C (n.636+11548T>C) | |
| 15 | g.48526163A>T | CA392349798 | FBN1 | c.955T>A (p.Phe319Ile) c.636+11548T>A (n.636+11548T>A) | |
| 15 | g.48526164A= | CA2175543023 | FBN1 | c.954T= (p.Gly318=) c.636+11547T= (n.636+11547T=) | |
| 15 | g.48526164A>C | CA490028580 | FBN1 | c.954T>G (p.Gly318=) c.636+11547T>G (n.636+11547T>G) | |
| 15 | g.48526164A>G | CA490028581 | FBN1 | c.954T>C (p.Gly318=) c.636+11547T>C (n.636+11547T>C) | |
| 15 | g.48526164A>T | CA060402 | FBN1 | c.954T>A (p.Gly318=) c.636+11547T>A (n.636+11547T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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) | |
| 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) | 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) | 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) |