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.48534094G>A | CA392352304 | FBN1 | c.848C>T (p.Ser283Leu) c.636+3617C>T (n.636+3617C>T) | |
| 15 | g.48534094G>C | CA392352306 | FBN1 | c.848C>G (p.Ser283Ter) c.636+3617C>G (n.636+3617C>G) | |
| 15 | g.48534094G= | CA2175536868 | FBN1 | c.848C= (p.Ser283=) c.636+3617C= (n.636+3617C=) | |
| 15 | g.48534094G>T | CA392352309 | FBN1 | c.848C>A (p.Ser283Ter) c.636+3617C>A (n.636+3617C>A) | dbSNP COSMIC |
| 15 | g.48534095A>C | CA392352311 | FBN1 | c.847T>G (p.Ser283Ala) c.636+3616T>G (n.636+3616T>G) | |
| 15 | g.48534095A>G | CA392352314 | FBN1 | c.847T>C (p.Ser283Pro) c.636+3616T>C (n.636+3616T>C) | |
| 15 | g.48534095A>T | CA392352313 | FBN1 | c.847T>A (p.Ser283Thr) c.636+3616T>A (n.636+3616T>A) | |
| 15 | g.48534096C>A | CA490028647 | FBN1 | c.846G>T (p.Val282=) c.636+3615G>T (n.636+3615G>T) | |
| 15 | g.48534096C= | CA2175536869 | FBN1 | c.846G= (p.Val282=) c.636+3615G= (n.636+3615G=) | |
| 15 | g.48534096C>G | CA490028648 | FBN1 | c.846G>C (p.Val282=) c.636+3615G>C (n.636+3615G>C) | |
| 15 | g.48534096C>T | CA490028646 | FBN1 | c.846G>A (p.Val282=) c.636+3615G>A (n.636+3615G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48534097A>C | CA392352316 | FBN1 | c.845T>G (p.Val282Gly) c.636+3614T>G (n.636+3614T>G) | |
| 15 | g.48534097A>G | CA392352317 | FBN1 | c.845T>C (p.Val282Ala) c.636+3614T>C (n.636+3614T>C) | |
| 15 | g.48534097A>T | CA392352319 | FBN1 | c.845T>A (p.Val282Glu) c.636+3614T>A (n.636+3614T>A) | |
| 15 | g.48534098C>A | CA392352325 | FBN1 | c.844G>T (p.Val282Leu) c.636+3613G>T (n.636+3613G>T) | |
| 15 | g.48534098C= | CA2175536871 | FBN1 | c.844G= (p.Val282=) c.636+3613G= (n.636+3613G=) | |
| 15 | g.48534098C>G | CA392352327 | FBN1 | c.844G>C (p.Val282Leu) c.636+3613G>C (n.636+3613G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48534098C>T | CA392352329 | FBN1 | c.844G>A (p.Val282Met) c.636+3613G>A (n.636+3613G>A) | |
| 15 | g.48534098_48534102delinsCTTCA | CA2175536870 | FBN1 | c.840_844delinsTGAAG (p.Asn280=) c.636+3609_636+3613delinsTGAAG (n.636+3609_636+3613delinsTGAAG) | |
| 15 | g.48534099T>A | CA392352332 | FBN1 | c.843A>T (p.Glu281Asp) c.636+3612A>T (n.636+3612A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534099T>C | CA490028649 | FBN1 | c.843A>G (p.Glu281=) c.636+3612A>G (n.636+3612A>G) | dbSNP |
| 15 | g.48534099T>G | CA060012 | FBN1 | c.843A>C (p.Glu281Asp) c.636+3612A>C (n.636+3612A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534099T= | CA2175536872 | FBN1 | c.843A= (p.Glu281=) c.636+3612A= (n.636+3612A=) | |
| 15 | g.48534101_48534104del | CA16043495 | FBN1 | c.840_843del (p.Asn280LysfsTer?) c.636+3609_636+3612del (n.636+3609_636+3612del) | ClinVar dbSNP |
| 15 | g.48534100T>A | CA392352338 | FBN1 | c.842A>T (p.Glu281Val) c.636+3611A>T (n.636+3611A>T) | |
| 15 | g.48534100T>C | CA392352341 | FBN1 | c.842A>G (p.Glu281Gly) c.636+3611A>G (n.636+3611A>G) | |
| 15 | g.48534100T>G | CA392352343 | FBN1 | c.842A>C (p.Glu281Ala) c.636+3611A>C (n.636+3611A>C) | |
| 15 | g.48534100T= | CA2175536873 | FBN1 | c.842A= (p.Glu281=) c.636+3611A= (n.636+3611A=) | |
| 15 | g.48534100_48534101insA | CA10587859 | FBN1 | c.841_842insT (p.Glu281ValfsTer7) c.636+3610_636+3611insT (n.636+3610_636+3611insT) | ClinVar dbSNP |
| 15 | g.48534101C>A | CA392352350 | FBN1 | c.841G>T (p.Glu281Ter) c.636+3610G>T (n.636+3610G>T) | |
| 15 | g.48534101C>G | CA392352348 | FBN1 | c.841G>C (p.Glu281Gln) c.636+3610G>C (n.636+3610G>C) | |
| 15 | g.48534101C>T | CA392352346 | FBN1 | c.841G>A (p.Glu281Lys) c.636+3610G>A (n.636+3610G>A) | |
| 15 | g.48534102A>C | CA392352354 | FBN1 | c.840T>G (p.Asn280Lys) c.636+3609T>G (n.636+3609T>G) | COSMIC |
| 15 | g.48534102A>G | CA490028650 | FBN1 | c.840T>C (p.Asn280=) c.636+3609T>C (n.636+3609T>C) | |
| 15 | g.48534102A>T | CA392352353 | FBN1 | c.840T>A (p.Asn280Lys) c.636+3609T>A (n.636+3609T>A) | |
| 15 | g.48534103T>A | CA392352358 | FBN1 | c.839A>T (p.Asn280Ile) c.636+3608A>T (n.636+3608A>T) | |
| 15 | g.48534103T>C | CA392352357 | FBN1 | c.839A>G (p.Asn280Ser) c.636+3608A>G (n.636+3608A>G) | |
| 15 | g.48534103T>G | CA392352360 | FBN1 | c.839A>C (p.Asn280Thr) c.636+3608A>C (n.636+3608A>C) | gnomAD v4 |
| 15 | g.48534104T>A | CA392352362 | FBN1 | c.838A>T (p.Asn280Tyr) c.636+3607A>T (n.636+3607A>T) | |
| 15 | g.48534104T>C | CA392352364 | FBN1 | c.838A>G (p.Asn280Asp) c.636+3607A>G (n.636+3607A>G) | |
| 15 | g.48534104T>G | CA392352366 | FBN1 | c.838A>C (p.Asn280His) c.636+3607A>C (n.636+3607A>C) | |
| 15 | g.48534105A= | CA2175536874 | FBN1 | c.837T= (p.Leu279=) c.636+3606T= (n.636+3606T=) | |
| 15 | g.48534105A>C | CA490028651 | FBN1 | c.837T>G (p.Leu279=) c.636+3606T>G (n.636+3606T>G) | |
| 15 | g.48534105A>G | CA490028652 | FBN1 | c.837T>C (p.Leu279=) c.636+3606T>C (n.636+3606T>C) | |
| 15 | g.48534105A>T | CA490028653 | FBN1 | c.837T>A (p.Leu279=) c.636+3606T>A (n.636+3606T>A) | ClinVar dbSNP |
| 15 | g.48534106A>C | CA392352368 | FBN1 | c.836T>G (p.Leu279Arg) c.636+3605T>G (n.636+3605T>G) | gnomAD v4 |
| 15 | g.48534106A>G | CA392352370 | FBN1 | c.836T>C (p.Leu279Pro) c.636+3605T>C (n.636+3605T>C) | |
| 15 | g.48534106A>T | CA392352372 | FBN1 | c.836T>A (p.Leu279His) c.636+3605T>A (n.636+3605T>A) | |
| 15 | g.48534107G>A | CA392352374 | FBN1 | c.835C>T (p.Leu279Phe) c.636+3604C>T (n.636+3604C>T) | |
| 15 | g.48534107G>C | CA392352378 | FBN1 | c.835C>G (p.Leu279Val) c.636+3604C>G (n.636+3604C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48534107G= | CA2175536875 | FBN1 | c.835C= (p.Leu279=) c.636+3604C= (n.636+3604C=) | |
| 15 | g.48534107G>T | CA392352380 | FBN1 | c.835C>A (p.Leu279Ile) c.636+3604C>A (n.636+3604C>A) | |
| 15 | g.48534108T>A | CA392352383 | FBN1 | c.834A>T (p.Lys278Asn) c.636+3603A>T (n.636+3603A>T) | |
| 15 | g.48534108T>C | CA490028654 | FBN1 | c.834A>G (p.Lys278=) c.636+3603A>G (n.636+3603A>G) | gnomAD v4 |
| 15 | g.48534108T>G | CA392352384 | FBN1 | c.834A>C (p.Lys278Asn) c.636+3603A>C (n.636+3603A>C) | |
| 15 | g.48534109T>A | CA392352385 | FBN1 | c.833A>T (p.Lys278Ile) c.636+3602A>T (n.636+3602A>T) | |
| 15 | g.48534109T>C | CA392352386 | FBN1 | c.833A>G (p.Lys278Arg) c.636+3602A>G (n.636+3602A>G) | |
| 15 | g.48534109T>G | CA392352388 | FBN1 | c.833A>C (p.Lys278Thr) c.636+3602A>C (n.636+3602A>C) | |
| 15 | g.48534110T>A | CA392352394 | FBN1 | c.832A>T (p.Lys278Ter) c.636+3601A>T (n.636+3601A>T) | |
| 15 | g.48534110T>C | CA059948 | FBN1 | c.832A>G (p.Lys278Glu) c.636+3601A>G (n.636+3601A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534110T>G | CA392352391 | FBN1 | c.832A>C (p.Lys278Gln) c.636+3601A>C (n.636+3601A>C) | |
| 15 | g.48534110T= | CA2175536876 | FBN1 | c.832A= (p.Lys278=) c.636+3601A= (n.636+3601A=) | |
| 15 | g.48534110_48534111delinsTG | CA2175536877 | FBN1 | c.831_832delinsCA (p.His277=) c.636+3600_636+3601delinsCA (n.636+3600_636+3601delinsCA) | |
| 15 | g.48534111del | CA916082426 | FBN1 | c.831del (p.His277GlnfsTer?) c.636+3600del (n.636+3600del) | ClinVar dbSNP |
| 15 | g.48534111G>A | CA490028655 | FBN1 | c.831C>T (p.His277=) c.636+3600C>T (n.636+3600C>T) | |
| 15 | g.48534111G>C | CA392352396 | FBN1 | c.831C>G (p.His277Gln) c.636+3600C>G (n.636+3600C>G) | |
| 15 | g.48534111G>T | CA392352398 | FBN1 | c.831C>A (p.His277Gln) c.636+3600C>A (n.636+3600C>A) | ClinVar |
| 15 | g.48534112T>A | CA392352400 | FBN1 | c.830A>T (p.His277Leu) c.636+3599A>T (n.636+3599A>T) | ClinVar |
| 15 | g.48534112T>C | CA392352402 | FBN1 | c.830A>G (p.His277Arg) c.636+3599A>G (n.636+3599A>G) | |
| 15 | g.48534112T>G | CA392352404 | FBN1 | c.830A>C (p.His277Pro) c.636+3599A>C (n.636+3599A>C) | |
| 15 | g.48534113G>A | CA392352406 | FBN1 | c.829C>T (p.His277Tyr) c.636+3598C>T (n.636+3598C>T) | |
| 15 | g.48534113G>C | CA392352408 | FBN1 | c.829C>G (p.His277Asp) c.636+3598C>G (n.636+3598C>G) | |
| 15 | g.48534113G>T | CA392352410 | FBN1 | c.829C>A (p.His277Asn) c.636+3598C>A (n.636+3598C>A) | |
| 15 | g.48534114T>A | CA490028656 | FBN1 | c.828A>T (p.Gly276=) c.636+3597A>T (n.636+3597A>T) | |
| 15 | g.48534114T>C | CA490028657 | FBN1 | c.828A>G (p.Gly276=) c.636+3597A>G (n.636+3597A>G) | |
| 15 | g.48534114T>G | CA490028658 | FBN1 | c.828A>C (p.Gly276=) c.636+3597A>C (n.636+3597A>C) | |
| 15 | g.48534115C>A | CA392352412 | FBN1 | c.827G>T (p.Gly276Val) c.636+3596G>T (n.636+3596G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534115C= | CA2175536878 | FBN1 | c.827G= (p.Gly276=) c.636+3596G= (n.636+3596G=) | |
| 15 | g.48534115C>G | CA392352414 | FBN1 | c.827G>C (p.Gly276Ala) c.636+3596G>C (n.636+3596G>C) | |
| 15 | g.48534115C>T | CA059889 | FBN1 | c.827G>A (p.Gly276Glu) c.636+3596G>A (n.636+3596G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48534116C>A | CA392352419 | FBN1 | c.826G>T (p.Gly276Ter) c.636+3595G>T (n.636+3595G>T) | |
| 15 | g.48534116C= | CA2175536879 | FBN1 | c.826G= (p.Gly276=) c.636+3595G= (n.636+3595G=) | |
| 15 | g.48534116C>G | CA392352420 | FBN1 | c.826G>C (p.Gly276Arg) c.636+3595G>C (n.636+3595G>C) | |
| 15 | g.48534116C>T | CA392352423 | FBN1 | c.826G>A (p.Gly276Arg) c.636+3595G>A (n.636+3595G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48534117A>C | CA490028661 | FBN1 | c.825T>G (p.Ala275=) c.636+3594T>G (n.636+3594T>G) | |
| 15 | g.48534117A>G | CA490028659 | FBN1 | c.825T>C (p.Ala275=) c.636+3594T>C (n.636+3594T>C) | |
| 15 | g.48534117A>T | CA490028660 | FBN1 | c.825T>A (p.Ala275=) c.636+3594T>A (n.636+3594T>A) | |
| 15 | g.48534118G>A | CA392352426 | FBN1 | c.824C>T (p.Ala275Val) c.636+3593C>T (n.636+3593C>T) | COSMIC |
| 15 | g.48534118G>C | CA392352428 | FBN1 | c.824C>G (p.Ala275Gly) c.636+3593C>G (n.636+3593C>G) | |
| 15 | g.48534118G= | CA2175536880 | FBN1 | c.824C= (p.Ala275=) c.636+3593C= (n.636+3593C=) | |
| 15 | g.48534118G>T | CA059881 | FBN1 | c.824C>A (p.Ala275Asp) c.636+3593C>A (n.636+3593C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534119C>A | CA392352430 | FBN1 | c.823G>T (p.Ala275Ser) c.636+3592G>T (n.636+3592G>T) | |
| 15 | g.48534119C= | CA2175536881 | FBN1 | c.823G= (p.Ala275=) c.636+3592G= (n.636+3592G=) | |
| 15 | g.48534119C>G | CA392352432 | FBN1 | c.823G>C (p.Ala275Pro) c.636+3592G>C (n.636+3592G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48534119C>T | CA392352434 | FBN1 | c.823G>A (p.Ala275Thr) c.636+3592G>A (n.636+3592G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48534120A= | CA2175536882 | FBN1 | c.822T= (p.Pro274=) c.636+3591T= (n.636+3591T=) | |
| 15 | g.48534120A>C | CA490028662 | FBN1 | c.822T>G (p.Pro274=) c.636+3591T>G (n.636+3591T>G) | |
| 15 | g.48534120A>G | CA490028663 | FBN1 | c.822T>C (p.Pro274=) c.636+3591T>C (n.636+3591T>C) | dbSNP |
| 15 | g.48534120A>T | CA490028664 | FBN1 | c.822T>A (p.Pro274=) c.636+3591T>A (n.636+3591T>A) | |
| 15 | g.48534121G>A | CA392352441 | FBN1 | c.821C>T (p.Pro274Leu) c.636+3590C>T (n.636+3590C>T) | |
| 15 | g.48534121G>C | CA392352443 | FBN1 | c.821C>G (p.Pro274Arg) c.636+3590C>G (n.636+3590C>G) | |
| 15 | g.48534121G= | CA2175536883 | FBN1 | c.821C= (p.Pro274=) c.636+3590C= (n.636+3590C=) | |
| 15 | g.48534121G>T | CA392352445 | FBN1 | c.821C>A (p.Pro274His) c.636+3590C>A (n.636+3590C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48534123del | CA2695220363 | FBN1 | c.821del (p.Pro274LeufsTer?) c.636+3590del (n.636+3590del) | |
| 15 | g.48534122G>A | CA392352453 | FBN1 | c.820C>T (p.Pro274Ser) c.636+3589C>T (n.636+3589C>T) | |
| 15 | g.48534122G>C | CA392352449 | FBN1 | c.820C>G (p.Pro274Ala) c.636+3589C>G (n.636+3589C>G) | |
| 15 | g.48534122G>T | CA392352451 | FBN1 | c.820C>A (p.Pro274Thr) c.636+3589C>A (n.636+3589C>A) | gnomAD v4 |
| 15 | g.48534123G>A | CA490028665 | FBN1 | c.819C>T (p.Cys273=) c.636+3588C>T (n.636+3588C>T) | ClinVar dbSNP |
| 15 | g.48534123G>C | CA392352456 | FBN1 | c.819C>G (p.Cys273Trp) c.636+3588C>G (n.636+3588C>G) | |
| 15 | g.48534123G= | CA2175536884 | FBN1 | c.819C= (p.Cys273=) c.636+3588C= (n.636+3588C=) | |
| 15 | g.48534123G>T | CA392352457 | FBN1 | c.819C>A (p.Cys273Ter) c.636+3588C>A (n.636+3588C>A) | ClinVar |
| 15 | g.48534124C>A | CA392352460 | FBN1 | c.818G>T (p.Cys273Phe) c.636+3587G>T (n.636+3587G>T) | |
| 15 | g.48534124C>G | CA392352462 | FBN1 | c.818G>C (p.Cys273Ser) c.636+3587G>C (n.636+3587G>C) | |
| 15 | g.48534124C>T | CA392352465 | FBN1 | c.818G>A (p.Cys273Tyr) c.636+3587G>A (n.636+3587G>A) | |
| 15 | g.48534125A>C | CA392352467 | FBN1 | c.817T>G (p.Cys273Gly) c.636+3586T>G (n.636+3586T>G) | |
| 15 | g.48534125A>G | CA392352471 | FBN1 | c.817T>C (p.Cys273Arg) c.636+3586T>C (n.636+3586T>C) | |
| 15 | g.48534125A>T | CA392352469 | FBN1 | c.817T>A (p.Cys273Ser) c.636+3586T>A (n.636+3586T>A) | |
| 15 | g.48534126T>A | CA392352473 | FBN1 | c.816A>T (p.Lys272Asn) c.636+3585A>T (n.636+3585A>T) | |
| 15 | g.48534126T>C | CA490028666 | FBN1 | c.816A>G (p.Lys272=) c.636+3585A>G (n.636+3585A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534126T>G | CA392352475 | FBN1 | c.816A>C (p.Lys272Asn) c.636+3585A>C (n.636+3585A>C) | |
| 15 | g.48534126T= | CA2175536885 | FBN1 | c.816A= (p.Lys272=) c.636+3585A= (n.636+3585A=) | |
| 15 | g.48534127T>A | CA392352477 | FBN1 | c.815A>T (p.Lys272Ile) c.636+3584A>T (n.636+3584A>T) | |
| 15 | g.48534127T>C | CA059693 | FBN1 | c.815A>G (p.Lys272Arg) c.636+3584A>G (n.636+3584A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48534127T>G | CA392352481 | FBN1 | c.815A>C (p.Lys272Thr) c.636+3584A>C (n.636+3584A>C) | |
| 15 | g.48534127T= | CA2175536886 | FBN1 | c.815A= (p.Lys272=) c.636+3584A= (n.636+3584A=) | |
| 15 | g.48534127_48534128delinsTT | CA2175536887 | FBN1 | c.814_815delinsAA (p.Lys272=) c.636+3583_636+3584delinsAA (n.636+3583_636+3584delinsAA) | |
| 15 | g.48534128T>A | CA392352484 | FBN1 | c.814A>T (p.Lys272Ter) c.636+3583A>T (n.636+3583A>T) | |
| 15 | g.48534128T>C | CA392352486 | FBN1 | c.814A>G (p.Lys272Glu) c.636+3583A>G (n.636+3583A>G) | |
| 15 | g.48534128T>G | CA017572 | FBN1 | c.814A>C (p.Lys272Gln) c.636+3583A>C (n.636+3583A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534128T= | CA2175536888 | FBN1 | c.814A= (p.Lys272=) c.636+3583A= (n.636+3583A=) | |
| 15 | g.48534128delinsAAGTTTGTGTCCAGCAGGGCATTGTGTCCA | CA915946610 | FBN1 | c.814delinsTGGACACAATGCCCTGCTGGACACAAACTT (p.Lys272TrpfsTer?) c.636+3583delinsTGGACACAATGCCCTGCTGGACACAAACTT (n.636+3583delinsTGGACACAATGCCCTGCTGGACACAAACTT) | ClinVar dbSNP |
| 15 | g.48534129G>A | CA490028667 | FBN1 | c.813C>T (p.Cys271=) c.636+3582C>T (n.636+3582C>T) | gnomAD v4 |
| 15 | g.48534129G>C | CA059648 | FBN1 | c.813C>G (p.Cys271Trp) c.636+3582C>G (n.636+3582C>G) | ClinVar dbSNP ExAC gnomAD v2 |
| 15 | g.48534129G= | CA2175536889 | FBN1 | c.813C= (p.Cys271=) c.636+3582C= (n.636+3582C=) | |
| 15 | g.48534129G>T | CA017565 | FBN1 | c.813C>A (p.Cys271Ter) c.636+3582C>A (n.636+3582C>A) | dbSNP |
| 15 | g.48534130C>A | CA392352496 | FBN1 | c.812G>T (p.Cys271Phe) c.636+3581G>T (n.636+3581G>T) | |
| 15 | g.48534130C>G | CA392352499 | FBN1 | c.812G>C (p.Cys271Ser) c.636+3581G>C (n.636+3581G>C) | |
| 15 | g.48534130C>T | CA392352498 | FBN1 | c.812G>A (p.Cys271Tyr) c.636+3581G>A (n.636+3581G>A) | ClinVar |
| 15 | g.48534130_48534139delinsCACTCAAAAG | CA2175536890 | FBN1 | c.803_812delinsCTTTTGAGTG (p.Ser268=) c.636+3572_636+3581delinsCTTTTGAGTG (n.636+3572_636+3581delinsCTTTTGAGTG) | |
| 15 | g.48534131A= | CA2175536891 | FBN1 | c.811T= (p.Cys271=) c.636+3580T= (n.636+3580T=) | |
| 15 | g.48534131A>C | CA16614684 | FBN1 | c.811T>G (p.Cys271Gly) c.636+3580T>G (n.636+3580T>G) | ClinVar dbSNP |
| 15 | g.48534131A>G | CA392352503 | FBN1 | c.811T>C (p.Cys271Arg) c.636+3580T>C (n.636+3580T>C) | |
| 15 | g.48534131A>T | CA392352506 | FBN1 | c.811T>A (p.Cys271Ser) c.636+3580T>A (n.636+3580T>A) | ClinVar |
| 15 | g.48534133_48534141del | CA017523 | FBN1 | c.803_811del (p.Ser268_Glu270del) c.636+3572_636+3580del (n.636+3572_636+3580del) | ClinVar dbSNP |
| 15 | g.48534132C>A | CA392352512 | FBN1 | c.810G>T (p.Glu270Asp) c.636+3579G>T (n.636+3579G>T) | |
| 15 | g.48534132C>G | CA392352514 | FBN1 | c.810G>C (p.Glu270Asp) c.636+3579G>C (n.636+3579G>C) | |
| 15 | g.48534132C>T | CA490028668 | FBN1 | c.810G>A (p.Glu270=) c.636+3579G>A (n.636+3579G>A) | ClinVar |
| 15 | g.48534132_48534146del | CA2580089570 | FBN1 | c.796_810del (p.Val266_Glu270del) c.636+3565_636+3579del (n.636+3565_636+3579del) | ClinVar |
| 15 | g.48534133T>A | CA392352521 | FBN1 | c.809A>T (p.Glu270Val) c.636+3578A>T (n.636+3578A>T) | |
| 15 | g.48534133T>C | CA392352518 | FBN1 | c.809A>G (p.Glu270Gly) c.636+3578A>G (n.636+3578A>G) | |
| 15 | g.48534133T>G | CA392352520 | FBN1 | c.809A>C (p.Glu270Ala) c.636+3578A>C (n.636+3578A>C) | |
| 15 | g.48534134C>A | CA392352522 | FBN1 | c.808G>T (p.Glu270Ter) c.636+3577G>T (n.636+3577G>T) | |
| 15 | g.48534134C= | CA2175536892 | FBN1 | c.808G= (p.Glu270=) c.636+3577G= (n.636+3577G=) | |
| 15 | g.48534134C>G | CA392352523 | FBN1 | c.808G>C (p.Glu270Gln) c.636+3577G>C (n.636+3577G>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48534134C>T | CA392352526 | FBN1 | c.808G>A (p.Glu270Lys) c.636+3577G>A (n.636+3577G>A) | gnomAD v4 |
| 15 | g.48534135A>C | CA392352528 | FBN1 | c.807T>G (p.Phe269Leu) c.636+3576T>G (n.636+3576T>G) | |
| 15 | g.48534135A>G | CA490028669 | FBN1 | c.807T>C (p.Phe269=) c.636+3576T>C (n.636+3576T>C) | |
| 15 | g.48534135A>T | CA392352530 | FBN1 | c.807T>A (p.Phe269Leu) c.636+3576T>A (n.636+3576T>A) | ClinVar gnomAD v4 |
| 15 | g.48534136A= | CA2175536893 | FBN1 | c.806T= (p.Phe269=) c.636+3575T= (n.636+3575T=) | |
| 15 | g.48534136A>C | CA392352537 | FBN1 | c.806T>G (p.Phe269Cys) c.636+3575T>G (n.636+3575T>G) | |
| 15 | g.48534136A>G | CA269573077 | FBN1 | c.806T>C (p.Phe269Ser) c.636+3575T>C (n.636+3575T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48534136A>T | CA392352535 | FBN1 | c.806T>A (p.Phe269Tyr) c.636+3575T>A (n.636+3575T>A) | |
| 15 | g.48534136_48534143delinsAAAGACCC | CA2175536894 | FBN1 | c.799_806delinsGGGTCTTT (p.Gly267=) c.636+3568_636+3575delinsGGGTCTTT (n.636+3568_636+3575delinsGGGTCTTT) | |
| 15 | g.48534137A>C | CA392352540 | FBN1 | c.805T>G (p.Phe269Val) c.636+3574T>G (n.636+3574T>G) | |
| 15 | g.48534137A>G | CA392352542 | FBN1 | c.805T>C (p.Phe269Leu) c.636+3574T>C (n.636+3574T>C) | gnomAD v4 |
| 15 | g.48534137A>T | CA392352544 | FBN1 | c.805T>A (p.Phe269Ile) c.636+3574T>A (n.636+3574T>A) | |
| 15 | g.48534139_48534145del | CA16614686 | FBN1 | c.799_805del (p.Gly267LeufsTer?) c.636+3568_636+3574del (n.636+3568_636+3574del) | ClinVar dbSNP |
| 15 | g.48534138A>C | CA490028670 | FBN1 | c.804T>G (p.Ser268=) c.636+3573T>G (n.636+3573T>G) | |
| 15 | g.48534138A>G | CA490028672 | FBN1 | c.804T>C (p.Ser268=) c.636+3573T>C (n.636+3573T>C) | |
| 15 | g.48534138A>T | CA490028671 | FBN1 | c.804T>A (p.Ser268=) c.636+3573T>A (n.636+3573T>A) | |
| 15 | g.48534139G>A | CA392352545 | FBN1 | c.803C>T (p.Ser268Phe) c.636+3572C>T (n.636+3572C>T) | COSMIC |
| 15 | g.48534139G>C | CA392352546 | FBN1 | c.803C>G (p.Ser268Cys) c.636+3572C>G (n.636+3572C>G) | |
| 15 | g.48534139G>T | CA392352547 | FBN1 | c.803C>A (p.Ser268Tyr) c.636+3572C>A (n.636+3572C>A) | gnomAD v4 |
| 15 | g.48534140A>C | CA392352548 | FBN1 | c.802T>G (p.Ser268Ala) c.636+3571T>G (n.636+3571T>G) | ClinVar |
| 15 | g.48534140A>G | CA392352549 | FBN1 | c.802T>C (p.Ser268Pro) c.636+3571T>C (n.636+3571T>C) | ClinVar |
| 15 | g.48534140A>T | CA392352550 | FBN1 | c.802T>A (p.Ser268Thr) c.636+3571T>A (n.636+3571T>A) | |
| 15 | g.48534140_48534141delinsAC | CA2175536895 | FBN1 | c.801_802delinsGT (p.Gly267=) c.636+3570_636+3571delinsGT (n.636+3570_636+3571delinsGT) | |
| 15 | g.48534140_48534165delinsACCCAACAGTATTAATGCAATTTCCT | CA2175536896 | FBN1 | c.777_802delinsAGGAAATTGCATTAATACTGTTGGGT (p.Gly259=) c.636+3546_636+3571delinsAGGAAATTGCATTAATACTGTTGGGT (n.636+3546_636+3571delinsAGGAAATTGCATTAATACTGTTGGGT) | |
| 15 | g.48534141C>A | CA490028673 | FBN1 | c.801G>T (p.Gly267=) c.636+3570G>T (n.636+3570G>T) | |
| 15 | g.48534141C>G | CA490028674 | FBN1 | c.801G>C (p.Gly267=) c.636+3570G>C (n.636+3570G>C) | |
| 15 | g.48534141C>T | CA490028675 | FBN1 | c.801G>A (p.Gly267=) c.636+3570G>A (n.636+3570G>A) | |
| 15 | g.48534143del | CA16614839 | FBN1 | c.801del (p.Ser268LeufsTer?) c.636+3570del (n.636+3570del) | ClinVar dbSNP |
| 15 | g.48534144_48534168del | CA1139663904 | FBN1 | c.777_801del (p.Gly260LeufsTer?) c.636+3546_636+3570del (n.636+3546_636+3570del) | ClinVar dbSNP |
| 15 | g.48534142C>A | CA392352552 | FBN1 | c.800G>T (p.Gly267Val) c.636+3569G>T (n.636+3569G>T) | |
| 15 | g.48534142C>G | CA392352553 | FBN1 | c.800G>C (p.Gly267Ala) c.636+3569G>C (n.636+3569G>C) | |
| 15 | g.48534142C>T | CA392352554 | FBN1 | c.800G>A (p.Gly267Glu) c.636+3569G>A (n.636+3569G>A) | |
| 15 | g.48534143C>A | CA392352555 | FBN1 | c.799G>T (p.Gly267Trp) c.636+3568G>T (n.636+3568G>T) | |
| 15 | g.48534143C>G | CA392352558 | FBN1 | c.799G>C (p.Gly267Arg) c.636+3568G>C (n.636+3568G>C) | ClinVar dbSNP |
| 15 | g.48534143C>T | CA392352556 | FBN1 | c.799G>A (p.Gly267Arg) c.636+3568G>A (n.636+3568G>A) | |
| 15 | g.48534144A>C | CA490028676 | FBN1 | c.798T>G (p.Val266=) c.636+3567T>G (n.636+3567T>G) | |
| 15 | g.48534144A>G | CA490028678 | FBN1 | c.798T>C (p.Val266=) c.636+3567T>C (n.636+3567T>C) | |
| 15 | g.48534144A>T | CA490028677 | FBN1 | c.798T>A (p.Val266=) c.636+3567T>A (n.636+3567T>A) | |
| 15 | g.48534145A= | CA2175536897 | FBN1 | c.797T= (p.Val266=) c.636+3566T= (n.636+3566T=) | |
| 15 | g.48534145A>C | CA392352559 | FBN1 | c.797T>G (p.Val266Gly) c.636+3566T>G (n.636+3566T>G) | |
| 15 | g.48534145A>G | CA392352561 | FBN1 | c.797T>C (p.Val266Ala) c.636+3566T>C (n.636+3566T>C) | dbSNP gnomAD v4 |
| 15 | g.48534145A>T | CA392352562 | FBN1 | c.797T>A (p.Val266Asp) c.636+3566T>A (n.636+3566T>A) | |
| 15 | g.48534146C>A | CA392352564 | FBN1 | c.796G>T (p.Val266Phe) c.636+3565G>T (n.636+3565G>T) | ClinVar |
| 15 | g.48534146C= | CA2175536898 | FBN1 | c.796G= (p.Val266=) c.636+3565G= (n.636+3565G=) | |
| 15 | g.48534146C>G | CA392352566 | FBN1 | c.796G>C (p.Val266Leu) c.636+3565G>C (n.636+3565G>C) | gnomAD v4 |
| 15 | g.48534146C>T | CA059396 | FBN1 | c.796G>A (p.Val266Ile) c.636+3565G>A (n.636+3565G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534147del | CA2573150823 | FBN1 | c.795del (p.Val266LeufsTer?) c.636+3564del (n.636+3564del) | ClinVar dbSNP |
| 15 | g.48534147A>C | CA490028681 | FBN1 | c.795T>G (p.Thr265=) c.636+3564T>G (n.636+3564T>G) | |
| 15 | g.48534147A>G | CA490028680 | FBN1 | c.795T>C (p.Thr265=) c.636+3564T>C (n.636+3564T>C) | gnomAD v4 |
| 15 | g.48534147A>T | CA490028679 | FBN1 | c.795T>A (p.Thr265=) c.636+3564T>A (n.636+3564T>A) | |
| 15 | g.48534147_48534148insATAC | CA2695220371 | FBN1 | c.794_795insGTAT (p.Val266TyrfsTer6) c.636+3563_636+3564insGTAT (n.636+3563_636+3564insGTAT) | |
| 15 | g.48534148G>A | CA059360 | FBN1 | c.794C>T (p.Thr265Ile) c.636+3563C>T (n.636+3563C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534148G>C | CA392352574 | FBN1 | c.794C>G (p.Thr265Ser) c.636+3563C>G (n.636+3563C>G) | |
| 15 | g.48534148G= | CA2175536899 | FBN1 | c.794C= (p.Thr265=) c.636+3563C= (n.636+3563C=) | |
| 15 | g.48534148G>T | CA392352577 | FBN1 | c.794C>A (p.Thr265Asn) c.636+3563C>A (n.636+3563C>A) | |
| 15 | g.48534149T>A | CA269573088 | FBN1 | c.793A>T (p.Thr265Ser) c.636+3562A>T (n.636+3562A>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48534149T>C | CA392352579 | FBN1 | c.793A>G (p.Thr265Ala) c.636+3562A>G (n.636+3562A>G) | |
| 15 | g.48534149T>G | CA392352580 | FBN1 | c.793A>C (p.Thr265Pro) c.636+3562A>C (n.636+3562A>C) | |
| 15 | g.48534149T= | CA2175536900 | FBN1 | c.793A= (p.Thr265=) c.636+3562A= (n.636+3562A=) | |
| 15 | g.48534150A>C | CA392352583 | FBN1 | c.792T>G (p.Asn264Lys) c.636+3561T>G (n.636+3561T>G) | |
| 15 | g.48534150A>G | CA490028682 | FBN1 | c.792T>C (p.Asn264=) c.636+3561T>C (n.636+3561T>C) | |
| 15 | g.48534150A>T | CA392352582 | FBN1 | c.792T>A (p.Asn264Lys) c.636+3561T>A (n.636+3561T>A) | |
| 15 | g.48534151T>A | CA392352584 | FBN1 | c.791A>T (p.Asn264Ile) c.636+3560A>T (n.636+3560A>T) | |
| 15 | g.48534151T>C | CA392352585 | FBN1 | c.791A>G (p.Asn264Ser) c.636+3560A>G (n.636+3560A>G) | |
| 15 | g.48534151T>G | CA392352586 | FBN1 | c.791A>C (p.Asn264Thr) c.636+3560A>C (n.636+3560A>C) | |
| 15 | g.48534152T>A | CA392352587 | FBN1 | c.790A>T (p.Asn264Tyr) c.636+3559A>T (n.636+3559A>T) | |
| 15 | g.48534152T>C | CA392352589 | FBN1 | c.790A>G (p.Asn264Asp) c.636+3559A>G (n.636+3559A>G) | |
| 15 | g.48534152T>G | CA392352591 | FBN1 | c.790A>C (p.Asn264His) c.636+3559A>C (n.636+3559A>C) | |
| 15 | g.48534153A>C | CA392352592 | FBN1 | c.789T>G (p.Ile263Met) c.636+3558T>G (n.636+3558T>G) | |
| 15 | g.48534153A>G | CA490028683 | FBN1 | c.789T>C (p.Ile263=) c.636+3558T>C (n.636+3558T>C) | ClinVar dbSNP |
| 15 | g.48534153A>T | CA490028684 | FBN1 | c.789T>A (p.Ile263=) c.636+3558T>A (n.636+3558T>A) | |
| 15 | g.48534153_48534163del | CA2695220373 | FBN1 | c.779_789del (p.Gly260GlufsTer7) c.636+3548_636+3558del (n.636+3548_636+3558del) | |
| 15 | g.48534154A>C | CA392352596 | FBN1 | c.788T>G (p.Ile263Ser) c.636+3557T>G (n.636+3557T>G) | |
| 15 | g.48534154A>G | CA392352597 | FBN1 | c.788T>C (p.Ile263Thr) c.636+3557T>C (n.636+3557T>C) | |
| 15 | g.48534154A>T | CA392352599 | FBN1 | c.788T>A (p.Ile263Asn) c.636+3557T>A (n.636+3557T>A) | |
| 15 | g.48534155T>A | CA392352603 | FBN1 | c.787A>T (p.Ile263Phe) c.636+3556A>T (n.636+3556A>T) | |
| 15 | g.48534155T>C | CA10576992 | FBN1 | c.787A>G (p.Ile263Val) c.636+3556A>G (n.636+3556A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48534155T>G | CA392352605 | FBN1 | c.787A>C (p.Ile263Leu) c.636+3556A>C (n.636+3556A>C) | |
| 15 | g.48534155T= | CA2175536901 | FBN1 | c.787A= (p.Ile263=) c.636+3556A= (n.636+3556A=) | |
| 15 | g.48534156G>A | CA490028685 | FBN1 | c.786C>T (p.Cys262=) c.636+3555C>T (n.636+3555C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48534156G>C | CA392352606 | FBN1 | c.786C>G (p.Cys262Trp) c.636+3555C>G (n.636+3555C>G) | |
| 15 | g.48534156G= | CA2175536902 | FBN1 | c.786C= (p.Cys262=) c.636+3555C= (n.636+3555C=) | |
| 15 | g.48534156G>T | CA392352607 | FBN1 | c.786C>A (p.Cys262Ter) c.636+3555C>A (n.636+3555C>A) | |
| 15 | g.48534157C>A | CA392352609 | FBN1 | c.785G>T (p.Cys262Phe) c.636+3554G>T (n.636+3554G>T) | ClinVar |
| 15 | g.48534157C>G | CA392352613 | FBN1 | c.785G>C (p.Cys262Ser) c.636+3554G>C (n.636+3554G>C) | |
| 15 | g.48534157C>T | CA392352611 | FBN1 | c.785G>A (p.Cys262Tyr) c.636+3554G>A (n.636+3554G>A) | |
| 15 | g.48534158A>C | CA392352615 | FBN1 | c.784T>G (p.Cys262Gly) c.636+3553T>G (n.636+3553T>G) | |
| 15 | g.48534158A>G | CA392352618 | FBN1 | c.784T>C (p.Cys262Arg) c.636+3553T>C (n.636+3553T>C) | |
| 15 | g.48534158A>T | CA392352619 | FBN1 | c.784T>A (p.Cys262Ser) c.636+3553T>A (n.636+3553T>A) | |
| 15 | g.48534159A= | CA2175536903 | FBN1 | c.783T= (p.Asn261=) c.636+3552T= (n.636+3552T=) | |
| 15 | g.48534159A>C | CA392352622 | FBN1 | c.783T>G (p.Asn261Lys) c.636+3552T>G (n.636+3552T>G) | gnomAD v4 |
| 15 | g.48534159A>G | CA059270 | FBN1 | c.783T>C (p.Asn261=) c.636+3552T>C (n.636+3552T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534159A>T | CA392352623 | FBN1 | c.783T>A (p.Asn261Lys) c.636+3552T>A (n.636+3552T>A) | |
| 15 | g.48534160T>A | CA392352633 | FBN1 | c.782A>T (p.Asn261Ile) c.636+3551A>T (n.636+3551A>T) | ClinVar dbSNP |
| 15 | g.48534160T>C | CA392352628 | FBN1 | c.782A>G (p.Asn261Ser) c.636+3551A>G (n.636+3551A>G) | ClinVar dbSNP |
| 15 | g.48534160T>G | CA392352626 | FBN1 | c.782A>C (p.Asn261Thr) c.636+3551A>C (n.636+3551A>C) | |
| 15 | g.48534160T= | CA2175536904 | FBN1 | c.782A= (p.Asn261=) c.636+3551A= (n.636+3551A=) | |
| 15 | g.48534161T>A | CA392352635 | FBN1 | c.781A>T (p.Asn261Tyr) c.636+3550A>T (n.636+3550A>T) | |
| 15 | g.48534161T>C | CA392352637 | FBN1 | c.781A>G (p.Asn261Asp) c.636+3550A>G (n.636+3550A>G) | |
| 15 | g.48534161T>G | CA392352638 | FBN1 | c.781A>C (p.Asn261His) c.636+3550A>C (n.636+3550A>C) | |
| 15 | g.48534162T>A | CA490028686 | FBN1 | c.780A>T (p.Gly260=) c.636+3549A>T (n.636+3549A>T) | |
| 15 | g.48534162T>C | CA490028687 | FBN1 | c.780A>G (p.Gly260=) c.636+3549A>G (n.636+3549A>G) | |
| 15 | g.48534162T>G | CA490028688 | FBN1 | c.780A>C (p.Gly260=) c.636+3549A>C (n.636+3549A>C) | |
| 15 | g.48534163C>A | CA392352639 | FBN1 | c.779G>T (p.Gly260Val) c.636+3548G>T (n.636+3548G>T) | |
| 15 | g.48534163C>G | CA392352640 | FBN1 | c.779G>C (p.Gly260Ala) c.636+3548G>C (n.636+3548G>C) | |
| 15 | g.48534163C>T | CA392352643 | FBN1 | c.779G>A (p.Gly260Glu) c.636+3548G>A (n.636+3548G>A) | |
| 15 | g.48534164C>A | CA392352646 | FBN1 | c.778G>T (p.Gly260Ter) c.636+3547G>T (n.636+3547G>T) | |
| 15 | g.48534164C= | CA2175536905 | FBN1 | c.778G= (p.Gly260=) c.636+3547G= (n.636+3547G=) | |
| 15 | g.48534164C>G | CA392352650 | FBN1 | c.778G>C (p.Gly260Arg) c.636+3547G>C (n.636+3547G>C) | |
| 15 | g.48534164C>T | CA392352648 | FBN1 | c.778G>A (p.Gly260Arg) c.636+3547G>A (n.636+3547G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48534165T>A | CA490028689 | FBN1 | c.777A>T (p.Gly259=) c.636+3546A>T (n.636+3546A>T) | |
| 15 | g.48534165T>C | CA490028691 | FBN1 | c.777A>G (p.Gly259=) c.636+3546A>G (n.636+3546A>G) | gnomAD v4 |
| 15 | g.48534165T>G | CA490028690 | FBN1 | c.777A>C (p.Gly259=) c.636+3546A>C (n.636+3546A>C) | |
| 15 | g.48534166C>A | CA392352653 | FBN1 | c.776G>T (p.Gly259Val) c.636+3545G>T (n.636+3545G>T) | ClinVar dbSNP |
| 15 | g.48534166C= | CA2175536906 | FBN1 | c.776G= (p.Gly259=) c.636+3545G= (n.636+3545G=) | |
| 15 | g.48534166C>G | CA392352654 | FBN1 | c.776G>C (p.Gly259Ala) c.636+3545G>C (n.636+3545G>C) | |
| 15 | g.48534166C>T | CA059184 | FBN1 | c.776G>A (p.Gly259Glu) c.636+3545G>A (n.636+3545G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48534167C>A | CA392352655 | FBN1 | c.775G>T (p.Gly259Ter) c.636+3544G>T (n.636+3544G>T) | |
| 15 | g.48534167C= | CA2175536907 | FBN1 | c.775G= (p.Gly259=) c.636+3544G= (n.636+3544G=) | |
| 15 | g.48534167C>G | CA392352657 | FBN1 | c.775G>C (p.Gly259Arg) c.636+3544G>C (n.636+3544G>C) | |
| 15 | g.48534167C>T | CA392352658 | FBN1 | c.775G>A (p.Gly259Arg) c.636+3544G>A (n.636+3544G>A) | dbSNP gnomAD v4 |
| 15 | g.48534168C>A | CA392352660 | FBN1 | c.774G>T (p.Gln258His) c.636+3543G>T (n.636+3543G>T) | gnomAD v4 |
| 15 | g.48534168C>G | CA392352663 | FBN1 | c.774G>C (p.Gln258His) c.636+3543G>C (n.636+3543G>C) | |
| 15 | g.48534168C>T | CA490028692 | FBN1 | c.774G>A (p.Gln258=) c.636+3543G>A (n.636+3543G>A) | |
| 15 | g.48534169T>A | CA392352664 | FBN1 | c.773A>T (p.Gln258Leu) c.636+3542A>T (n.636+3542A>T) | |
| 15 | g.48534169T>C | CA392352665 | FBN1 | c.773A>G (p.Gln258Arg) c.636+3542A>G (n.636+3542A>G) | |
| 15 | g.48534169T>G | CA392352666 | FBN1 | c.773A>C (p.Gln258Pro) c.636+3542A>C (n.636+3542A>C) | |
| 15 | g.48534170G>A | CA392352667 | FBN1 | c.772C>T (p.Gln258Ter) c.636+3541C>T (n.636+3541C>T) | ClinVar dbSNP |
| 15 | g.48534170G>C | CA392352668 | FBN1 | c.772C>G (p.Gln258Glu) c.636+3541C>G (n.636+3541C>G) | |
| 15 | g.48534170G= | CA2175536908 | FBN1 | c.772C= (p.Gln258=) c.636+3541C= (n.636+3541C=) | |
| 15 | g.48534170G>T | CA059129 | FBN1 | c.772C>A (p.Gln258Lys) c.636+3541C>A (n.636+3541C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534171A>C | CA392352669 | FBN1 | c.771T>G (p.Cys257Trp) c.636+3540T>G (n.636+3540T>G) | |
| 15 | g.48534171A>G | CA490028693 | FBN1 | c.771T>C (p.Cys257=) c.636+3540T>C (n.636+3540T>C) | |
| 15 | g.48534171A>T | CA392352670 | FBN1 | c.771T>A (p.Cys257Ter) c.636+3540T>A (n.636+3540T>A) | |
| 15 | g.48534172C>A | CA392352671 | FBN1 | c.770G>T (p.Cys257Phe) c.636+3539G>T (n.636+3539G>T) | |
| 15 | g.48534172C= | CA2175536909 | FBN1 | c.770G= (p.Cys257=) c.636+3539G= (n.636+3539G=) | |
| 15 | g.48534172C>G | CA392352678 | FBN1 | c.770G>C (p.Cys257Ser) c.636+3539G>C (n.636+3539G>C) | dbSNP |
| 15 | g.48534172C>T | CA392352681 | FBN1 | c.770G>A (p.Cys257Tyr) c.636+3539G>A (n.636+3539G>A) | |
| 15 | g.48534172_48534174delinsCAG | CA2175536910 | FBN1 | c.768_770delinsCTG (p.Leu256=) c.636+3537_636+3539delinsCTG (n.636+3537_636+3539delinsCTG) | |
| 15 | g.48534173A>C | CA392352684 | FBN1 | c.769T>G (p.Cys257Gly) c.636+3538T>G (n.636+3538T>G) | |
| 15 | g.48534173A>G | CA392352687 | FBN1 | c.769T>C (p.Cys257Arg) c.636+3538T>C (n.636+3538T>C) | |
| 15 | g.48534173A>T | CA392352690 | FBN1 | c.769T>A (p.Cys257Ser) c.636+3538T>A (n.636+3538T>A) | |
| 15 | g.48534173dup | CA2740096601 | FBN1 | c.769dup (p.Cys257LeufsTer8) c.636+3538dup (n.636+3538dup) | ClinVar |
| 15 | g.48534175_48534176del | CA2175536911 | FBN1 | c.768_769del (p.Cys257SerfsTer7) c.636+3537_636+3538del (n.636+3537_636+3538del) | ClinVar dbSNP |
| 15 | g.48534174G>A | CA490028694 | FBN1 | c.768C>T (p.Leu256=) c.636+3537C>T (n.636+3537C>T) | COSMIC |
| 15 | g.48534174G>C | CA490028695 | FBN1 | c.768C>G (p.Leu256=) c.636+3537C>G (n.636+3537C>G) | |
| 15 | g.48534174G>T | CA490028696 | FBN1 | c.768C>A (p.Leu256=) c.636+3537C>A (n.636+3537C>A) | |
| 15 | g.48534175A>C | CA392352696 | FBN1 | c.767T>G (p.Leu256Arg) c.636+3536T>G (n.636+3536T>G) | |
| 15 | g.48534175A>G | CA392352699 | FBN1 | c.767T>C (p.Leu256Pro) c.636+3536T>C (n.636+3536T>C) | |
| 15 | g.48534175A>T | CA392352701 | FBN1 | c.767T>A (p.Leu256His) c.636+3536T>A (n.636+3536T>A) | |
| 15 | g.48534176G>A | CA392352710 | FBN1 | c.766C>T (p.Leu256Phe) c.636+3535C>T (n.636+3535C>T) | |
| 15 | g.48534176G>C | CA392352707 | FBN1 | c.766C>G (p.Leu256Val) c.636+3535C>G (n.636+3535C>G) | |
| 15 | g.48534176G>T | CA392352704 | FBN1 | c.766C>A (p.Leu256Ile) c.636+3535C>A (n.636+3535C>A) | |
| 15 | g.48534177C>A | CA490028697 | FBN1 | c.765G>T (p.Gly255=) c.636+3534G>T (n.636+3534G>T) | COSMIC |
| 15 | g.48534177C= | CA2175536912 | FBN1 | c.765G= (p.Gly255=) c.636+3534G= (n.636+3534G=) | |
| 15 | g.48534177C>G | CA490028698 | FBN1 | c.765G>C (p.Gly255=) c.636+3534G>C (n.636+3534G>C) | |
| 15 | g.48534177C>T | CA490028699 | FBN1 | c.765G>A (p.Gly255=) c.636+3534G>A (n.636+3534G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48534178C>A | CA392352713 | FBN1 | c.764G>T (p.Gly255Val) c.636+3533G>T (n.636+3533G>T) | |
| 15 | g.48534178C>G | CA392352723 | FBN1 | c.764G>C (p.Gly255Ala) c.636+3533G>C (n.636+3533G>C) | |
| 15 | g.48534178C>T | CA392352725 | FBN1 | c.764G>A (p.Gly255Glu) c.636+3533G>A (n.636+3533G>A) | |
| 15 | g.48534179C>A | CA392352729 | FBN1 | c.763G>T (p.Gly255Trp) c.636+3532G>T (n.636+3532G>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48534179C= | CA2175536915 | FBN1 | c.763G= (p.Gly255=) c.636+3532G= (n.636+3532G=) | |
| 15 | g.48534179C>G | CA392352731 | FBN1 | c.763G>C (p.Gly255Arg) c.636+3532G>C (n.636+3532G>C) | gnomAD v4 |
| 15 | g.48534179C>T | CA058972 | FBN1 | c.763G>A (p.Gly255Arg) c.636+3532G>A (n.636+3532G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48534179_48534180delinsCG | CA2175536914 | FBN1 | c.762_763delinsCG (p.Pro254=) c.636+3531_636+3532delinsCG (n.636+3531_636+3532delinsCG) | |
| 15 | g.48534179_48534187delinsCGGGGATGG | CA2175536913 | FBN1 | c.755_763delinsCCATCCCCG (p.Ala252=) c.636+3524_636+3532delinsCCATCCCCG (n.636+3524_636+3532delinsCCATCCCCG) | |
| 15 | g.48534180G>A | CA058969 | FBN1 | c.762C>T (p.Pro254=) c.636+3531C>T (n.636+3531C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534180G>C | CA490028700 | FBN1 | c.762C>G (p.Pro254=) c.636+3531C>G (n.636+3531C>G) | |
| 15 | g.48534180G= | CA2175536916 | FBN1 | c.762C= (p.Pro254=) c.636+3531C= (n.636+3531C=) | |
| 15 | g.48534180G>T | CA490028701 | FBN1 | c.762C>A (p.Pro254=) c.636+3531C>A (n.636+3531C>A) | |
| 15 | g.48534183dup | CA913188647 | FBN1 | c.762dup (p.Gly255ArgfsTer10) c.636+3531dup (n.636+3531dup) | ClinVar |
| 15 | g.48534183del | CA16619977 | FBN1 | c.762del (p.Leu256SerfsTer?) c.636+3531del (n.636+3531del) | ClinVar dbSNP |
| 15 | g.48534180_48534187del | CA916082427 | FBN1 | c.755_762del (p.Ala252GlyfsTer10) c.636+3524_636+3531del (n.636+3524_636+3531del) | ClinVar dbSNP |
| 15 | g.48534181G>A | CA392352739 | FBN1 | c.761C>T (p.Pro254Leu) c.636+3530C>T (n.636+3530C>T) | |
| 15 | g.48534181G>C | CA392352742 | FBN1 | c.761C>G (p.Pro254Arg) c.636+3530C>G (n.636+3530C>G) | gnomAD v4 |
| 15 | g.48534181G>T | CA392352746 | FBN1 | c.761C>A (p.Pro254His) c.636+3530C>A (n.636+3530C>A) | |
| 15 | g.48534182G>A | CA392352749 | FBN1 | c.760C>T (p.Pro254Ser) c.636+3529C>T (n.636+3529C>T) | |
| 15 | g.48534182G>C | CA392352752 | FBN1 | c.760C>G (p.Pro254Ala) c.636+3529C>G (n.636+3529C>G) | ClinVar dbSNP |
| 15 | g.48534182G>T | CA392352754 | FBN1 | c.760C>A (p.Pro254Thr) c.636+3529C>A (n.636+3529C>A) | gnomAD v4 |
| 15 | g.48534183G>A | CA490028702 | FBN1 | c.759C>T (p.Ile253=) c.636+3528C>T (n.636+3528C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534183G>C | CA392352757 | FBN1 | c.759C>G (p.Ile253Met) c.636+3528C>G (n.636+3528C>G) | |
| 15 | g.48534183G= | CA2175536917 | FBN1 | c.759C= (p.Ile253=) c.636+3528C= (n.636+3528C=) | |
| 15 | g.48534183G>T | CA490028703 | FBN1 | c.759C>A (p.Ile253=) c.636+3528C>A (n.636+3528C>A) | |
| 15 | g.48534184A>C | CA392352764 | FBN1 | c.758T>G (p.Ile253Ser) c.636+3527T>G (n.636+3527T>G) | |
| 15 | g.48534184A>G | CA392352762 | FBN1 | c.758T>C (p.Ile253Thr) c.636+3527T>C (n.636+3527T>C) | |
| 15 | g.48534184A>T | CA392352766 | FBN1 | c.758T>A (p.Ile253Asn) c.636+3527T>A (n.636+3527T>A) | |
| 15 | g.48534185T>A | CA392352767 | FBN1 | c.757A>T (p.Ile253Phe) c.636+3526A>T (n.636+3526A>T) | |
| 15 | g.48534185T>C | CA392352768 | FBN1 | c.757A>G (p.Ile253Val) c.636+3526A>G (n.636+3526A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48534185T>G | CA392352769 | FBN1 | c.757A>C (p.Ile253Leu) c.636+3526A>C (n.636+3526A>C) | |
| 15 | g.48534185T= | CA2175536918 | FBN1 | c.757A= (p.Ile253=) c.636+3526A= (n.636+3526A=) | |
| 15 | g.48534186G>A | CA490028706 | FBN1 | c.756C>T (p.Ala252=) c.636+3525C>T (n.636+3525C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534186G>C | CA490028704 | FBN1 | c.756C>G (p.Ala252=) c.636+3525C>G (n.636+3525C>G) | |
| 15 | g.48534186G= | CA2175536919 | FBN1 | c.756C= (p.Ala252=) c.636+3525C= (n.636+3525C=) | |
| 15 | g.48534186G>T | CA490028705 | FBN1 | c.756C>A (p.Ala252=) c.636+3525C>A (n.636+3525C>A) | dbSNP |
| 15 | g.48534187G>A | CA392352771 | FBN1 | c.755C>T (p.Ala252Val) c.636+3524C>T (n.636+3524C>T) | |
| 15 | g.48534187G>C | CA392352773 | FBN1 | c.755C>G (p.Ala252Gly) c.636+3524C>G (n.636+3524C>G) | |
| 15 | g.48534187G= | CA2175536920 | FBN1 | c.755C= (p.Ala252=) c.636+3524C= (n.636+3524C=) | |
| 15 | g.48534187G>T | CA392352779 | FBN1 | c.755C>A (p.Ala252Asp) c.636+3524C>A (n.636+3524C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534188C>A | CA392352785 | FBN1 | c.754G>T (p.Ala252Ser) c.636+3523G>T (n.636+3523G>T) | |
| 15 | g.48534188C= | CA2175536921 | FBN1 | c.754G= (p.Ala252=) c.636+3523G= (n.636+3523G=) | |
| 15 | g.48534188C>G | CA392352782 | FBN1 | c.754G>C (p.Ala252Pro) c.636+3523G>C (n.636+3523G>C) | |
| 15 | g.48534188C>T | CA392352784 | FBN1 | c.754G>A (p.Ala252Thr) c.636+3523G>A (n.636+3523G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48534189dup | CA1139663905 | FBN1 | c.754dup (p.Ala252GlyfsTer13) c.636+3523dup (n.636+3523dup) | ClinVar dbSNP |
| 15 | g.48534189C>A | CA392352790 | FBN1 | c.753G>T (p.Gln251His) c.636+3522G>T (n.636+3522G>T) | |
| 15 | g.48534189C>G | CA392352792 | FBN1 | c.753G>C (p.Gln251His) c.636+3522G>C (n.636+3522G>C) | |
| 15 | g.48534189C>T | CA490028707 | FBN1 | c.753G>A (p.Gln251=) c.636+3522G>A (n.636+3522G>A) | |
| 15 | g.48534190T>A | CA392352794 | FBN1 | c.752A>T (p.Gln251Leu) c.636+3521A>T (n.636+3521A>T) | |
| 15 | g.48534190T>C | CA392352797 | FBN1 | c.752A>G (p.Gln251Arg) c.636+3521A>G (n.636+3521A>G) | |
| 15 | g.48534190T>G | CA392352799 | FBN1 | c.752A>C (p.Gln251Pro) c.636+3521A>C (n.636+3521A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48534190T= | CA2175536922 | FBN1 | c.752A= (p.Gln251=) c.636+3521A= (n.636+3521A=) | |
| 15 | g.48534191G>A | CA392352802 | FBN1 | c.751C>T (p.Gln251Ter) c.636+3520C>T (n.636+3520C>T) | |
| 15 | g.48534191G>C | CA392352807 | FBN1 | c.751C>G (p.Gln251Glu) c.636+3520C>G (n.636+3520C>G) | |
| 15 | g.48534191G>T | CA392352805 | FBN1 | c.751C>A (p.Gln251Lys) c.636+3520C>A (n.636+3520C>A) | gnomAD v4 |
| 15 | g.48534192G>A | CA490028708 | FBN1 | c.750C>T (p.Cys250=) c.636+3519C>T (n.636+3519C>T) | ClinVar gnomAD v4 |
| 15 | g.48534192G>C | CA392352810 | FBN1 | c.750C>G (p.Cys250Trp) c.636+3519C>G (n.636+3519C>G) | |
| 15 | g.48534192G>T | CA392352813 | FBN1 | c.750C>A (p.Cys250Ter) c.636+3519C>A (n.636+3519C>A) | |
| 15 | g.48534193C>A | CA392352817 | FBN1 | c.749G>T (p.Cys250Phe) c.636+3518G>T (n.636+3518G>T) | gnomAD v4 |
| 15 | g.48534193C= | CA2175536923 | FBN1 | c.749G= (p.Cys250=) c.636+3518G= (n.636+3518G=) | |
| 15 | g.48534193C>G | CA392352819 | FBN1 | c.749G>C (p.Cys250Ser) c.636+3518G>C (n.636+3518G>C) | |
| 15 | g.48534193C>T | CA392352822 | FBN1 | c.749G>A (p.Cys250Tyr) c.636+3518G>A (n.636+3518G>A) | |
| 15 | g.48534193_48534194insGG | CA916082428 | FBN1 | c.748_749insCC (p.Cys250SerfsTer?) c.636+3517_636+3518insCC (n.636+3517_636+3518insCC) | ClinVar dbSNP |
| 15 | g.48534194A= | CA2175536924 | FBN1 | c.748T= (p.Cys250=) c.636+3517T= (n.636+3517T=) | |
| 15 | g.48534194A>C | CA392352824 | FBN1 | c.748T>G (p.Cys250Gly) c.636+3517T>G (n.636+3517T>G) | |
| 15 | g.48534194A>G | CA392352827 | FBN1 | c.748T>C (p.Cys250Arg) c.636+3517T>C (n.636+3517T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48534194A>T | CA392352829 | FBN1 | c.748T>A (p.Cys250Ser) c.636+3517T>A (n.636+3517T>A) |