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.48497231del | CA2628335364 | FBN1 | c.2293+35del (n.2293+35del) n.967+35del c.637-22581del (n.637-22581del) | gnomAD v4 |
| 15 | g.48497231A>C | CA2628335365 | FBN1 | c.2293+35T>G (n.2293+35T>G) n.967+35T>G c.637-22581T>G (n.637-22581T>G) | gnomAD v4 |
| 15 | g.48497231_48497233delinsAGG | CA2175521288 | FBN1 | c.2293+33_2293+35delinsCCT (n.2293+33_2293+35delinsCCT) n.967+33_967+35delinsCCT c.637-22583_637-22581delinsCCT (n.637-22583_637-22581delinsCCT) | |
| 15 | g.48497232_48497233del | CA617838067 | FBN1 | c.2293+33_2293+34del (n.2293+33_2293+34del) n.967+33_967+34del c.637-22583_637-22582del (n.637-22583_637-22582del) | dbSNP gnomAD v2 |
| 15 | g.48497233G>A | CA2628335366 | FBN1 | c.2293+33C>T (n.2293+33C>T) n.967+33C>T c.637-22583C>T (n.637-22583C>T) | gnomAD v4 |
| 15 | g.48497233G>C | CA2575717423 | FBN1 | c.2293+33C>G (n.2293+33C>G) n.967+33C>G c.637-22583C>G (n.637-22583C>G) | |
| 15 | g.48497233G= | CA2175521290 | FBN1 | c.2293+33C= (n.2293+33C=) n.967+33C= c.637-22583C= (n.637-22583C=) | |
| 15 | g.48497233G>T | CA2175521291 | FBN1 | c.2293+33C>A (n.2293+33C>A) n.967+33C>A c.637-22583C>A (n.637-22583C>A) | dbSNP |
| 15 | g.48497234C>A | CA2730605198 | FBN1 | c.2293+32G>T (n.2293+32G>T) n.967+32G>T c.637-22584G>T (n.637-22584G>T) | dbSNP |
| 15 | g.48497234C= | CA2175521292 | FBN1 | c.2293+32G= (n.2293+32G=) n.967+32G= c.637-22584G= (n.637-22584G=) | |
| 15 | g.48497234C>T | CA617838068 | FBN1 | c.2293+32G>A (n.2293+32G>A) n.967+32G>A c.637-22584G>A (n.637-22584G>A) | dbSNP gnomAD v2 |
| 15 | g.48497235A= | CA2175521293 | FBN1 | c.2293+31T= (n.2293+31T=) n.967+31T= c.637-22585T= (n.637-22585T=) | |
| 15 | g.48497235A>G | CA2175521294 | FBN1 | c.2293+31T>C (n.2293+31T>C) n.967+31T>C c.637-22585T>C (n.637-22585T>C) | dbSNP |
| 15 | g.48497236A>C | CA2628335367 | FBN1 | c.2293+30T>G (n.2293+30T>G) n.967+30T>G c.637-22586T>G (n.637-22586T>G) | gnomAD v4 |
| 15 | g.48497236A>G | CA2628335368 | FBN1 | c.2293+30T>C (n.2293+30T>C) n.967+30T>C c.637-22586T>C (n.637-22586T>C) | gnomAD v4 |
| 15 | g.48497236_48497237del | CA2575717425 | FBN1 | c.2293+29_2293+30del (n.2293+29_2293+30del) n.967+29_967+30del c.637-22587_637-22586del (n.637-22587_637-22586del) | |
| 15 | g.48497237T>C | CA047358 | FBN1 | c.2293+29A>G (n.2293+29A>G) n.967+29A>G c.637-22587A>G (n.637-22587A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497237T= | CA2175521295 | FBN1 | c.2293+29A= (n.2293+29A=) n.967+29A= c.637-22587A= (n.637-22587A=) | |
| 15 | g.48497238G>A | CA2575717426 | FBN1 | c.2293+28C>T (n.2293+28C>T) n.967+28C>T c.637-22588C>T (n.637-22588C>T) | |
| 15 | g.48497238G>C | CA713410193 | FBN1 | c.2293+28C>G (n.2293+28C>G) n.967+28C>G c.637-22588C>G (n.637-22588C>G) | dbSNP |
| 15 | g.48497238G= | CA2175521297 | FBN1 | c.2293+28C= (n.2293+28C=) n.967+28C= c.637-22588C= (n.637-22588C=) | |
| 15 | g.48497238G>T | CA2628335369 | FBN1 | c.2293+28C>A (n.2293+28C>A) n.967+28C>A c.637-22588C>A (n.637-22588C>A) | gnomAD v4 |
| 15 | g.48497239T>C | CA047344 | FBN1 | c.2293+27A>G (n.2293+27A>G) n.967+27A>G c.637-22589A>G (n.637-22589A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497239T= | CA2175521298 | FBN1 | c.2293+27A= (n.2293+27A=) n.967+27A= c.637-22589A= (n.637-22589A=) | |
| 15 | g.48497241T>A | CA617838069 | FBN1 | c.2293+25A>T (n.2293+25A>T) n.967+25A>T c.637-22591A>T (n.637-22591A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497241T= | CA2175521299 | FBN1 | c.2293+25A= (n.2293+25A=) n.967+25A= c.637-22591A= (n.637-22591A=) | |
| 15 | g.48497243A>C | CA2628335370 | FBN1 | c.2293+23T>G (n.2293+23T>G) n.967+23T>G c.637-22593T>G (n.637-22593T>G) | gnomAD v4 |
| 15 | g.48497244G>C | CA2628335371 | FBN1 | c.2293+22C>G (n.2293+22C>G) n.967+22C>G c.637-22594C>G (n.637-22594C>G) | gnomAD v4 |
| 15 | g.48497247A>G | CA2730873977 | FBN1 | c.2293+19T>C (n.2293+19T>C) n.967+19T>C c.637-22597T>C (n.637-22597T>C) | dbSNP |
| 15 | g.48497249T>C | CA269539754 | FBN1 | c.2293+17A>G (n.2293+17A>G) n.967+17A>G c.637-22599A>G (n.637-22599A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48497249T= | CA2175521300 | FBN1 | c.2293+17A= (n.2293+17A=) n.967+17A= c.637-22599A= (n.637-22599A=) | |
| 15 | g.48497250G>C | CA047339 | FBN1 | c.2293+16C>G (n.2293+16C>G) n.967+16C>G c.637-22600C>G (n.637-22600C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497250G= | CA2175521302 | FBN1 | c.2293+16C= (n.2293+16C=) n.967+16C= c.637-22600C= (n.637-22600C=) | |
| 15 | g.48497252del | CA2628335372 | FBN1 | c.2293+16del (n.2293+16del) n.967+16del c.637-22600del (n.637-22600del) | gnomAD v4 |
| 15 | g.48497251G>A | CA2740096664 | FBN1 | c.2293+15C>T (n.2293+15C>T) n.967+15C>T c.637-22601C>T (n.637-22601C>T) | ClinVar |
| 15 | g.48497251G>C | CA2628335373 | FBN1 | c.2293+15C>G (n.2293+15C>G) n.967+15C>G c.637-22601C>G (n.637-22601C>G) | gnomAD v4 |
| 15 | g.48497252G= | CA2175521303 | FBN1 | c.2293+14C= (n.2293+14C=) n.967+14C= c.637-22602C= (n.637-22602C=) | |
| 15 | g.48497252G>T | CA047327 | FBN1 | c.2293+14C>A (n.2293+14C>A) n.967+14C>A c.637-22602C>A (n.637-22602C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497254A>G | CA2730873980 | FBN1 | c.2293+12T>C (n.2293+12T>C) n.967+12T>C c.637-22604T>C (n.637-22604T>C) | dbSNP |
| 15 | g.48497258C>A | CA713410199 | FBN1 | c.2293+8G>T (n.2293+8G>T) n.967+8G>T c.637-22608G>T (n.637-22608G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48497258C= | CA2175521304 | FBN1 | c.2293+8G= (n.2293+8G=) n.967+8G= c.637-22608G= (n.637-22608G=) | |
| 15 | g.48497258C>T | CA2580089651 | FBN1 | c.2293+8G>A (n.2293+8G>A) n.967+8G>A c.637-22608G>A (n.637-22608G>A) | ClinVar |
| 15 | g.48497260_48497262del | CA2575717429 | FBN1 | c.2293+6_2293+8del (n.2293+6_2293+8del) n.967+6_967+8del c.637-22610_637-22608del (n.637-22610_637-22608del) | |
| 15 | g.48497259T>A | CA2175521305 | FBN1 | c.2293+7A>T (n.2293+7A>T) n.967+7A>T c.637-22609A>T (n.637-22609A>T) | dbSNP |
| 15 | g.48497259T= | CA2175521306 | FBN1 | c.2293+7A= (n.2293+7A=) n.967+7A= c.637-22609A= (n.637-22609A=) | |
| 15 | g.48497261C= | CA2175521308 | FBN1 | c.2293+5G= (n.2293+5G=) n.967+5G= c.637-22611G= (n.637-22611G=) | |
| 15 | g.48497261C>G | CA2695220739 | FBN1 | c.2293+5G>C (n.2293+5G>C) n.967+5G>C c.637-22611G>C (n.637-22611G>C) | |
| 15 | g.48497261C>T | CA012929 | FBN1 | c.2293+5G>A (n.2293+5G>A) n.967+5G>A c.637-22611G>A (n.637-22611G>A) | ClinVar dbSNP |
| 15 | g.48497264A>C | CA392335570 | FBN1 | c.2293+2T>G (n.2293+2T>G) n.967+2T>G c.637-22614T>G (n.637-22614T>G) | |
| 15 | g.48497264A>G | CA392335571 | FBN1 | c.2293+2T>C (n.2293+2T>C) n.967+2T>C c.637-22614T>C (n.637-22614T>C) | |
| 15 | g.48497264A>T | CA392335572 | FBN1 | c.2293+2T>A (n.2293+2T>A) n.967+2T>A c.637-22614T>A (n.637-22614T>A) | |
| 15 | g.48497265C>A | CA392335573 | FBN1 | c.2293+1G>T (n.2293+1G>T) n.967+1G>T c.637-22615G>T (n.637-22615G>T) | |
| 15 | g.48497265C= | CA2175521310 | FBN1 | c.2293+1G= (n.2293+1G=) n.967+1G= c.637-22615G= (n.637-22615G=) | |
| 15 | g.48497265C>G | CA392335574 | FBN1 | c.2293+1G>C (n.2293+1G>C) n.967+1G>C c.637-22615G>C (n.637-22615G>C) | ClinVar dbSNP |
| 15 | g.48497265C>T | CA16614665 | FBN1 | c.2293+1G>A (n.2293+1G>A) n.967+1G>A c.637-22615G>A (n.637-22615G>A) | ClinVar dbSNP |
| 15 | g.48497266C>A | CA392335577 | FBN1 | c.2293G>T (p.Asp765Tyr) n.967G>T c.637-22616G>T (n.637-22616G>T) | |
| 15 | g.48497266C= | CA2175521312 | FBN1 | c.2293G= (p.Asp765=) n.967G= c.637-22616G= (n.637-22616G=) | |
| 15 | g.48497266C>G | CA392335576 | FBN1 | c.2293G>C (p.Asp765His) n.967G>C c.637-22616G>C (n.637-22616G>C) | |
| 15 | g.48497266C>T | CA392335575 | FBN1 | c.2293G>A (p.Asp765Asn) n.967G>A c.637-22616G>A (n.637-22616G>A) | ClinVar dbSNP |
| 15 | g.48497267A>C | CA490023586 | FBN1 | c.2292T>G (p.Val764=) n.966T>G c.637-22617T>G (n.637-22617T>G) | |
| 15 | g.48497267A>G | CA490023584 | FBN1 | c.2292T>C (p.Val764=) n.966T>C c.637-22617T>C (n.637-22617T>C) | |
| 15 | g.48497267A>T | CA490023585 | FBN1 | c.2292T>A (p.Val764=) n.966T>A c.637-22617T>A (n.637-22617T>A) | |
| 15 | g.48497268del | CA2573150827 | FBN1 | c.2292del (p.Asp765IlefsTer7) n.966del c.637-22617del (n.637-22617del) | ClinVar dbSNP |
| 15 | g.48497268A= | CA2175521314 | FBN1 | c.2291T= (p.Val764=) n.965T= c.637-22618T= (n.637-22618T=) | |
| 15 | g.48497268A>C | CA392335578 | FBN1 | c.2291T>G (p.Val764Gly) n.965T>G c.637-22618T>G (n.637-22618T>G) | |
| 15 | g.48497268A>G | CA047321 | FBN1 | c.2291T>C (p.Val764Ala) n.965T>C c.637-22618T>C (n.637-22618T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497268A>T | CA392335579 | FBN1 | c.2291T>A (p.Val764Asp) n.965T>A c.637-22618T>A (n.637-22618T>A) | |
| 15 | g.48497269C>A | CA392335580 | FBN1 | c.2290G>T (p.Val764Phe) n.964G>T c.637-22619G>T (n.637-22619G>T) | ClinVar gnomAD v4 |
| 15 | g.48497269C= | CA2175521317 | FBN1 | c.2290G= (p.Val764=) n.964G= c.637-22619G= (n.637-22619G=) | |
| 15 | g.48497269C>G | CA392335581 | FBN1 | c.2290G>C (p.Val764Leu) n.964G>C c.637-22619G>C (n.637-22619G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497269C>T | CA047304 | FBN1 | c.2290G>A (p.Val764Ile) n.964G>A c.637-22619G>A (n.637-22619G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48497270G>A | CA047257 | FBN1 | c.2289C>T (p.Cys763=) n.963C>T c.637-22620C>T (n.637-22620C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497270G>C | CA392335582 | FBN1 | c.2289C>G (p.Cys763Trp) n.963C>G c.637-22620C>G (n.637-22620C>G) | ClinVar dbSNP |
| 15 | g.48497270G= | CA2175521319 | FBN1 | c.2289C= (p.Cys763=) n.963C= c.637-22620C= (n.637-22620C=) | |
| 15 | g.48497270G>T | CA392335583 | FBN1 | c.2289C>A (p.Cys763Ter) n.963C>A c.637-22620C>A (n.637-22620C>A) | ClinVar |
| 15 | g.48497271C>A | CA392335584 | FBN1 | c.2288G>T (p.Cys763Phe) n.962G>T c.637-22621G>T (n.637-22621G>T) | COSMIC |
| 15 | g.48497271C>G | CA392335585 | FBN1 | c.2288G>C (p.Cys763Ser) n.962G>C c.637-22621G>C (n.637-22621G>C) | |
| 15 | g.48497271C>T | CA392335586 | FBN1 | c.2288G>A (p.Cys763Tyr) n.962G>A c.637-22621G>A (n.637-22621G>A) | |
| 15 | g.48497272A= | CA2175521322 | FBN1 | c.2287T= (p.Cys763=) n.961T= c.637-22622T= (n.637-22622T=) | |
| 15 | g.48497272A>C | CA392335588 | FBN1 | c.2287T>G (p.Cys763Gly) n.961T>G c.637-22622T>G (n.637-22622T>G) | ClinVar dbSNP |
| 15 | g.48497272A>G | CA392335589 | FBN1 | c.2287T>C (p.Cys763Arg) n.961T>C c.637-22622T>C (n.637-22622T>C) | ClinVar dbSNP |
| 15 | g.48497272A>T | CA392335587 | FBN1 | c.2287T>A (p.Cys763Ser) n.961T>A c.637-22622T>A (n.637-22622T>A) | |
| 15 | g.48497273G>A | CA490023587 | FBN1 | c.2286C>T (p.Asn762=) n.960C>T c.637-22623C>T (n.637-22623C>T) | |
| 15 | g.48497273G>C | CA392335590 | FBN1 | c.2286C>G (p.Asn762Lys) n.960C>G c.637-22623C>G (n.637-22623C>G) | ClinVar dbSNP |
| 15 | g.48497273G= | CA2175521324 | FBN1 | c.2286C= (p.Asn762=) n.960C= c.637-22623C= (n.637-22623C=) | |
| 15 | g.48497273G>T | CA392335591 | FBN1 | c.2286C>A (p.Asn762Lys) n.960C>A c.637-22623C>A (n.637-22623C>A) | |
| 15 | g.48497274T>A | CA392335592 | FBN1 | c.2285A>T (p.Asn762Ile) n.959A>T c.637-22624A>T (n.637-22624A>T) | |
| 15 | g.48497274T>C | CA392335593 | FBN1 | c.2285A>G (p.Asn762Ser) n.959A>G c.637-22624A>G (n.637-22624A>G) | |
| 15 | g.48497274T>G | CA392335594 | FBN1 | c.2285A>C (p.Asn762Thr) n.959A>C c.637-22624A>C (n.637-22624A>C) | |
| 15 | g.48497274_48497275insC | CA2695220740 | FBN1 | c.2284_2285insG (p.Asn762ArgfsTer4) n.958_959insG c.637-22625_637-22624insG (n.637-22625_637-22624insG) | |
| 15 | g.48497275T>A | CA392335597 | FBN1 | c.2284A>T (p.Asn762Tyr) n.958A>T c.637-22625A>T (n.637-22625A>T) | |
| 15 | g.48497275T>C | CA392335595 | FBN1 | c.2284A>G (p.Asn762Asp) n.958A>G c.637-22625A>G (n.637-22625A>G) | |
| 15 | g.48497275T>G | CA392335596 | FBN1 | c.2284A>C (p.Asn762His) n.958A>C c.637-22625A>C (n.637-22625A>C) | |
| 15 | g.48497276T>A | CA392335598 | FBN1 | c.2283A>T (p.Lys761Asn) n.957A>T c.637-22626A>T (n.637-22626A>T) | |
| 15 | g.48497276T>C | CA490023588 | FBN1 | c.2283A>G (p.Lys761=) n.957A>G c.637-22626A>G (n.637-22626A>G) | ClinVar dbSNP gnomAD v2 |
| 15 | g.48497276T>G | CA392335599 | FBN1 | c.2283A>C (p.Lys761Asn) n.957A>C c.637-22626A>C (n.637-22626A>C) | |
| 15 | g.48497276T= | CA2175521326 | FBN1 | c.2283A= (p.Lys761=) n.957A= c.637-22626A= (n.637-22626A=) | |
| 15 | g.48497277T>A | CA392335600 | FBN1 | c.2282A>T (p.Lys761Ile) n.956A>T c.637-22627A>T (n.637-22627A>T) | |
| 15 | g.48497277T>C | CA392335601 | FBN1 | c.2282A>G (p.Lys761Arg) n.956A>G c.637-22627A>G (n.637-22627A>G) | |
| 15 | g.48497277T>G | CA392335602 | FBN1 | c.2282A>C (p.Lys761Thr) n.956A>C c.637-22627A>C (n.637-22627A>C) | |
| 15 | g.48497278T>A | CA392335603 | FBN1 | c.2281A>T (p.Lys761Ter) n.955A>T c.637-22628A>T (n.637-22628A>T) | |
| 15 | g.48497278T>C | CA392335605 | FBN1 | c.2281A>G (p.Lys761Glu) n.955A>G c.637-22628A>G (n.637-22628A>G) | |
| 15 | g.48497278T>G | CA392335604 | FBN1 | c.2281A>C (p.Lys761Gln) n.955A>C c.637-22628A>C (n.637-22628A>C) | |
| 15 | g.48497279C>A | CA490023589 | FBN1 | c.2280G>T (p.Gly760=) n.954G>T c.637-22629G>T (n.637-22629G>T) | |
| 15 | g.48497279C= | CA2175521328 | FBN1 | c.2280G= (p.Gly760=) n.954G= c.637-22629G= (n.637-22629G=) | |
| 15 | g.48497279C>G | CA490023590 | FBN1 | c.2280G>C (p.Gly760=) n.954G>C c.637-22629G>C (n.637-22629G>C) | |
| 15 | g.48497279C>T | CA490023591 | FBN1 | c.2280G>A (p.Gly760=) n.954G>A c.637-22629G>A (n.637-22629G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497281del | CA2695220741 | FBN1 | c.2280del (p.Asn762ThrfsTer10) n.954del c.637-22629del (n.637-22629del) | |
| 15 | g.48497280C>A | CA392335606 | FBN1 | c.2279G>T (p.Gly760Val) n.953G>T c.637-22630G>T (n.637-22630G>T) | |
| 15 | g.48497280C>G | CA392335607 | FBN1 | c.2279G>C (p.Gly760Ala) n.953G>C c.637-22630G>C (n.637-22630G>C) | |
| 15 | g.48497280C>T | CA392335608 | FBN1 | c.2279G>A (p.Gly760Glu) n.953G>A c.637-22630G>A (n.637-22630G>A) | ClinVar dbSNP COSMIC |
| 15 | g.48497281C>A | CA392335609 | FBN1 | c.2278G>T (p.Gly760Trp) n.952G>T c.637-22631G>T (n.637-22631G>T) | |
| 15 | g.48497281C>G | CA392335610 | FBN1 | c.2278G>C (p.Gly760Arg) n.952G>C c.637-22631G>C (n.637-22631G>C) | |
| 15 | g.48497281C>T | CA392335611 | FBN1 | c.2278G>A (p.Gly760Arg) n.952G>A c.637-22631G>A (n.637-22631G>A) | |
| 15 | g.48497282A= | CA2175521329 | FBN1 | c.2277T= (p.Thr759=) n.951T= c.637-22632T= (n.637-22632T=) | |
| 15 | g.48497282A>C | CA269539789 | FBN1 | c.2277T>G (p.Thr759=) n.951T>G c.637-22632T>G (n.637-22632T>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48497282A>G | CA490023592 | FBN1 | c.2277T>C (p.Thr759=) n.951T>C c.637-22632T>C (n.637-22632T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497282A>T | CA490023593 | FBN1 | c.2277T>A (p.Thr759=) n.951T>A c.637-22632T>A (n.637-22632T>A) | |
| 15 | g.48497283G>A | CA392335612 | FBN1 | c.2276C>T (p.Thr759Ile) n.950C>T c.637-22633C>T (n.637-22633C>T) | gnomAD v4 |
| 15 | g.48497283G>C | CA392335613 | FBN1 | c.2276C>G (p.Thr759Ser) n.950C>G c.637-22633C>G (n.637-22633C>G) | |
| 15 | g.48497283G>T | CA392335614 | FBN1 | c.2276C>A (p.Thr759Asn) n.950C>A c.637-22633C>A (n.637-22633C>A) | |
| 15 | g.48497284T>A | CA392335615 | FBN1 | c.2275A>T (p.Thr759Ser) n.949A>T c.637-22634A>T (n.637-22634A>T) | |
| 15 | g.48497284T>C | CA392335616 | FBN1 | c.2275A>G (p.Thr759Ala) n.949A>G c.637-22634A>G (n.637-22634A>G) | ClinVar dbSNP |
| 15 | g.48497284T>G | CA392335617 | FBN1 | c.2275A>C (p.Thr759Pro) n.949A>C c.637-22634A>C (n.637-22634A>C) | |
| 15 | g.48497284_48497287dup | CA2695220742 | FBN1 | c.2272_2275dup (p.Thr759IlefsTer8) n.946_949dup c.637-22637_637-22634dup (n.637-22637_637-22634dup) | |
| 15 | g.48497285T>A | CA490023595 | FBN1 | c.2274A>T (p.Ser758=) n.948A>T c.637-22635A>T (n.637-22635A>T) | |
| 15 | g.48497285T>C | CA490023596 | FBN1 | c.2274A>G (p.Ser758=) n.948A>G c.637-22635A>G (n.637-22635A>G) | |
| 15 | g.48497285T>G | CA490023597 | FBN1 | c.2274A>C (p.Ser758=) n.948A>C c.637-22635A>C (n.637-22635A>C) | |
| 15 | g.48497286G>A | CA392335619 | FBN1 | c.2273C>T (p.Ser758Leu) n.947C>T c.637-22636C>T (n.637-22636C>T) | |
| 15 | g.48497286G>C | CA392335620 | FBN1 | c.2273C>G (p.Ser758Ter) n.947C>G c.637-22636C>G (n.637-22636C>G) | ClinVar |
| 15 | g.48497286G>T | CA392335618 | FBN1 | c.2273C>A (p.Ser758Ter) n.947C>A c.637-22636C>A (n.637-22636C>A) | |
| 15 | g.48497287A>C | CA392335623 | FBN1 | c.2272T>G (p.Ser758Ala) n.946T>G c.637-22637T>G (n.637-22637T>G) | |
| 15 | g.48497287A>G | CA392335621 | FBN1 | c.2272T>C (p.Ser758Pro) n.946T>C c.637-22637T>C (n.637-22637T>C) | |
| 15 | g.48497287A>T | CA392335622 | FBN1 | c.2272T>A (p.Ser758Thr) n.946T>A c.637-22637T>A (n.637-22637T>A) | |
| 15 | g.48497288A= | CA2175521331 | FBN1 | c.2271T= (p.Asp757=) n.945T= c.637-22638T= (n.637-22638T=) | |
| 15 | g.48497288A>C | CA392335624 | FBN1 | c.2271T>G (p.Asp757Glu) n.945T>G c.637-22638T>G (n.637-22638T>G) | |
| 15 | g.48497288A>G | CA490023598 | FBN1 | c.2271T>C (p.Asp757=) n.945T>C c.637-22638T>C (n.637-22638T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497288A>T | CA392335625 | FBN1 | c.2271T>A (p.Asp757Glu) n.945T>A c.637-22638T>A (n.637-22638T>A) | |
| 15 | g.48497289T>A | CA392335626 | FBN1 | c.2270A>T (p.Asp757Val) n.944A>T c.637-22639A>T (n.637-22639A>T) | |
| 15 | g.48497289T>C | CA392335627 | FBN1 | c.2270A>G (p.Asp757Gly) n.944A>G c.637-22639A>G (n.637-22639A>G) | |
| 15 | g.48497289T>G | CA392335628 | FBN1 | c.2270A>C (p.Asp757Ala) n.944A>C c.637-22639A>C (n.637-22639A>C) | |
| 15 | g.48497289_48497290delinsTC | CA2175521333 | FBN1 | c.2269_2270delinsGA (p.Asp757=) n.943_944delinsGA c.637-22640_637-22639delinsGA (n.637-22640_637-22639delinsGA) | |
| 15 | g.48497290C>A | CA392335629 | FBN1 | c.2269G>T (p.Asp757Tyr) n.943G>T c.637-22640G>T (n.637-22640G>T) | |
| 15 | g.48497290C= | CA2175521335 | FBN1 | c.2269G= (p.Asp757=) n.943G= c.637-22640G= (n.637-22640G=) | |
| 15 | g.48497290C>G | CA392335630 | FBN1 | c.2269G>C (p.Asp757His) n.943G>C c.637-22640G>C (n.637-22640G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48497290C>T | CA392335631 | FBN1 | c.2269G>A (p.Asp757Asn) n.943G>A c.637-22640G>A (n.637-22640G>A) | |
| 15 | g.48497291del | CA16619968 | FBN1 | c.2269del (p.Asp757IlefsTer15) n.943del c.637-22640del (n.637-22640del) | ClinVar dbSNP |
| 15 | g.48497291C>A | CA490023599 | FBN1 | c.2268G>T (p.Val756=) n.942G>T c.637-22641G>T (n.637-22641G>T) | |
| 15 | g.48497291C>G | CA490023600 | FBN1 | c.2268G>C (p.Val756=) n.942G>C c.637-22641G>C (n.637-22641G>C) | |
| 15 | g.48497291C>T | CA490023601 | FBN1 | c.2268G>A (p.Val756=) n.942G>A c.637-22641G>A (n.637-22641G>A) | ClinVar dbSNP |
| 15 | g.48497292A= | CA2175521337 | FBN1 | c.2267T= (p.Val756=) n.941T= c.637-22642T= (n.637-22642T=) | |
| 15 | g.48497292A>C | CA392335632 | FBN1 | c.2267T>G (p.Val756Gly) n.941T>G c.637-22642T>G (n.637-22642T>G) | |
| 15 | g.48497292A>G | CA047241 | FBN1 | c.2267T>C (p.Val756Ala) n.941T>C c.637-22642T>C (n.637-22642T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497292A>T | CA392335633 | FBN1 | c.2267T>A (p.Val756Glu) n.941T>A c.637-22642T>A (n.637-22642T>A) | |
| 15 | g.48497293C>A | CA392335634 | FBN1 | c.2266G>T (p.Val756Leu) n.940G>T c.637-22643G>T (n.637-22643G>T) | |
| 15 | g.48497293C= | CA2175521339 | FBN1 | c.2266G= (p.Val756=) n.940G= c.637-22643G= (n.637-22643G=) | |
| 15 | g.48497293C>G | CA392335636 | FBN1 | c.2266G>C (p.Val756Leu) n.940G>C c.637-22643G>C (n.637-22643G>C) | |
| 15 | g.48497293C>T | CA392335635 | FBN1 | c.2266G>A (p.Val756Met) n.940G>A c.637-22643G>A (n.637-22643G>A) | dbSNP |
| 15 | g.48497294T>A | CA392335637 | FBN1 | c.2265A>T (p.Glu755Asp) n.939A>T c.637-22644A>T (n.637-22644A>T) | |
| 15 | g.48497294T>C | CA490023602 | FBN1 | c.2265A>G (p.Glu755=) n.939A>G c.637-22644A>G (n.637-22644A>G) | gnomAD v4 |
| 15 | g.48497294T>G | CA392335638 | FBN1 | c.2265A>C (p.Glu755Asp) n.939A>C c.637-22644A>C (n.637-22644A>C) | |
| 15 | g.48497295T>A | CA392335639 | FBN1 | c.2264A>T (p.Glu755Val) n.938A>T c.637-22645A>T (n.637-22645A>T) | |
| 15 | g.48497295T>C | CA392335640 | FBN1 | c.2264A>G (p.Glu755Gly) n.938A>G c.637-22645A>G (n.637-22645A>G) | |
| 15 | g.48497295T>G | CA392335641 | FBN1 | c.2264A>C (p.Glu755Ala) n.938A>C c.637-22645A>C (n.637-22645A>C) | |
| 15 | g.48497295_48497297delinsTCA | CA2175521340 | FBN1 | c.2262_2264delinsTGA (p.Tyr754=) n.936_938delinsTGA c.637-22647_637-22645delinsTGA (n.637-22647_637-22645delinsTGA) | |
| 15 | g.48497296C>A | CA392335642 | FBN1 | c.2263G>T (p.Glu755Ter) n.937G>T c.637-22646G>T (n.637-22646G>T) | |
| 15 | g.48497296C>G | CA392335643 | FBN1 | c.2263G>C (p.Glu755Gln) n.937G>C c.637-22646G>C (n.637-22646G>C) | |
| 15 | g.48497296C>T | CA392335644 | FBN1 | c.2263G>A (p.Glu755Lys) n.937G>A c.637-22646G>A (n.637-22646G>A) | gnomAD v4 |
| 15 | g.48497296_48497297del | CA012921 | FBN1 | c.2262_2263del (p.Tyr754Ter) n.936_937del c.637-22647_637-22646del (n.637-22647_637-22646del) | ClinVar dbSNP |
| 15 | g.48497297A>C | CA392335645 | FBN1 | c.2262T>G (p.Tyr754Ter) n.936T>G c.637-22647T>G (n.637-22647T>G) | ClinVar |
| 15 | g.48497297A>G | CA490023603 | FBN1 | c.2262T>C (p.Tyr754=) n.936T>C c.637-22647T>C (n.637-22647T>C) | |
| 15 | g.48497297A>T | CA392335646 | FBN1 | c.2262T>A (p.Tyr754Ter) n.936T>A c.637-22647T>A (n.637-22647T>A) | gnomAD v4 |
| 15 | g.48497298T>A | CA392335648 | FBN1 | c.2261A>T (p.Tyr754Phe) n.935A>T c.637-22648A>T (n.637-22648A>T) | |
| 15 | g.48497298T>C | CA012911 | FBN1 | c.2261A>G (p.Tyr754Cys) n.935A>G c.637-22648A>G (n.637-22648A>G) | ClinVar dbSNP |
| 15 | g.48497298T>G | CA392335647 | FBN1 | c.2261A>C (p.Tyr754Ser) n.935A>C c.637-22648A>C (n.637-22648A>C) | |
| 15 | g.48497298T= | CA2175521342 | FBN1 | c.2261A= (p.Tyr754=) n.935A= c.637-22648A= (n.637-22648A=) | |
| 15 | g.48497299A>C | CA392335649 | FBN1 | c.2260T>G (p.Tyr754Asp) n.934T>G c.637-22649T>G (n.637-22649T>G) | |
| 15 | g.48497299A>G | CA392335650 | FBN1 | c.2260T>C (p.Tyr754His) n.934T>C c.637-22649T>C (n.637-22649T>C) | gnomAD v4 |
| 15 | g.48497299A>T | CA392335651 | FBN1 | c.2260T>A (p.Tyr754Asn) n.934T>A c.637-22649T>A (n.637-22649T>A) | |
| 15 | g.48497301_48497307del | CA2695220743 | FBN1 | c.2254_2260del (p.Ser752MetfsTer18) n.928_934del c.637-22655_637-22649del (n.637-22655_637-22649del) | |
| 15 | g.48497300T>A | CA490023604 | FBN1 | c.2259A>T (p.Gly753=) n.933A>T c.637-22650A>T (n.637-22650A>T) | |
| 15 | g.48497300T>C | CA490023605 | FBN1 | c.2259A>G (p.Gly753=) n.933A>G c.637-22650A>G (n.637-22650A>G) | |
| 15 | g.48497300T>G | CA490023606 | FBN1 | c.2259A>C (p.Gly753=) n.933A>C c.637-22650A>C (n.637-22650A>C) | |
| 15 | g.48497301C>A | CA392335652 | FBN1 | c.2258G>T (p.Gly753Val) n.932G>T c.637-22651G>T (n.637-22651G>T) | ClinVar dbSNP |
| 15 | g.48497301C= | CA2175521345 | FBN1 | c.2258G= (p.Gly753=) n.932G= c.637-22651G= (n.637-22651G=) | |
| 15 | g.48497301C>G | CA392335653 | FBN1 | c.2258G>C (p.Gly753Ala) n.932G>C c.637-22651G>C (n.637-22651G>C) | |
| 15 | g.48497301C>T | CA392335654 | FBN1 | c.2258G>A (p.Gly753Glu) n.932G>A c.637-22651G>A (n.637-22651G>A) | ClinVar dbSNP |
| 15 | g.48497302C>A | CA392335655 | FBN1 | c.2257G>T (p.Gly753Ter) n.931G>T c.637-22652G>T (n.637-22652G>T) | |
| 15 | g.48497302C>G | CA392335656 | FBN1 | c.2257G>C (p.Gly753Arg) n.931G>C c.637-22652G>C (n.637-22652G>C) | |
| 15 | g.48497302C>T | CA392335657 | FBN1 | c.2257G>A (p.Gly753Arg) n.931G>A c.637-22652G>A (n.637-22652G>A) | |
| 15 | g.48497302_48497305delinsCTGA | CA2175521347 | FBN1 | c.2254_2257delinsTCAG (p.Ser752=) n.928_931delinsTCAG c.637-22655_637-22652delinsTCAG (n.637-22655_637-22652delinsTCAG) | |
| 15 | g.48497303T>A | CA490023608 | FBN1 | c.2256A>T (p.Ser752=) n.930A>T c.637-22653A>T (n.637-22653A>T) | |
| 15 | g.48497303T>C | CA490023609 | FBN1 | c.2256A>G (p.Ser752=) n.930A>G c.637-22653A>G (n.637-22653A>G) | gnomAD v4 COSMIC |
| 15 | g.48497303T>G | CA490023607 | FBN1 | c.2256A>C (p.Ser752=) n.930A>C c.637-22653A>C (n.637-22653A>C) | dbSNP gnomAD v4 |
| 15 | g.48497303T= | CA2175521350 | FBN1 | c.2256A= (p.Ser752=) n.930A= c.637-22653A= (n.637-22653A=) | |
| 15 | g.48497303_48497305del | CA2175521349 | FBN1 | c.2254_2256del (p.Ser752del) n.928_930del c.637-22655_637-22653del (n.637-22655_637-22653del) | ClinVar dbSNP |
| 15 | g.48497304G>A | CA392335658 | FBN1 | c.2255C>T (p.Ser752Leu) n.929C>T c.637-22654C>T (n.637-22654C>T) | gnomAD v4 |
| 15 | g.48497304G>C | CA392335659 | FBN1 | c.2255C>G (p.Ser752Ter) n.929C>G c.637-22654C>G (n.637-22654C>G) | |
| 15 | g.48497304G>T | CA392335660 | FBN1 | c.2255C>A (p.Ser752Ter) n.929C>A c.637-22654C>A (n.637-22654C>A) | |
| 15 | g.48497304_48497305delinsGA | CA2175521352 | FBN1 | c.2254_2255delinsTC (p.Ser752=) n.928_929delinsTC c.637-22655_637-22654delinsTC (n.637-22655_637-22654delinsTC) | |
| 15 | g.48497305A>C | CA392335662 | FBN1 | c.2254T>G (p.Ser752Ala) n.928T>G c.637-22655T>G (n.637-22655T>G) | |
| 15 | g.48497305A>G | CA392335663 | FBN1 | c.2254T>C (p.Ser752Pro) n.928T>C c.637-22655T>C (n.637-22655T>C) | |
| 15 | g.48497305A>T | CA392335661 | FBN1 | c.2254T>A (p.Ser752Thr) n.928T>A c.637-22655T>A (n.637-22655T>A) | |
| 15 | g.48497306del | CA16042876 | FBN1 | c.2254del (p.Ser752GlnfsTer20) n.928del c.637-22655del (n.637-22655del) | ClinVar dbSNP |
| 15 | g.48497306A= | CA2175521355 | FBN1 | c.2253T= (p.Asn751=) n.927T= c.637-22656T= (n.637-22656T=) | |
| 15 | g.48497306A>C | CA392335664 | FBN1 | c.2253T>G (p.Asn751Lys) n.927T>G c.637-22656T>G (n.637-22656T>G) | |
| 15 | g.48497306A>G | CA490023610 | FBN1 | c.2253T>C (p.Asn751=) n.927T>C c.637-22656T>C (n.637-22656T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48497306A>T | CA392335665 | FBN1 | c.2253T>A (p.Asn751Lys) n.927T>A c.637-22656T>A (n.637-22656T>A) | |
| 15 | g.48497307T>A | CA392335666 | FBN1 | c.2252A>T (p.Asn751Ile) n.926A>T c.637-22657A>T (n.637-22657A>T) | |
| 15 | g.48497307T>C | CA392335667 | FBN1 | c.2252A>G (p.Asn751Ser) n.926A>G c.637-22657A>G (n.637-22657A>G) | |
| 15 | g.48497307T>G | CA392335668 | FBN1 | c.2252A>C (p.Asn751Thr) n.926A>C c.637-22657A>C (n.637-22657A>C) | |
| 15 | g.48497308T>A | CA392335671 | FBN1 | c.2251A>T (p.Asn751Tyr) n.925A>T c.637-22658A>T (n.637-22658A>T) | |
| 15 | g.48497308T>C | CA392335669 | FBN1 | c.2251A>G (p.Asn751Asp) n.925A>G c.637-22658A>G (n.637-22658A>G) | |
| 15 | g.48497308T>G | CA392335670 | FBN1 | c.2251A>C (p.Asn751His) n.925A>C c.637-22658A>C (n.637-22658A>C) | |
| 15 | g.48497309G>A | CA490023611 | FBN1 | c.2250C>T (p.Cys750=) n.924C>T c.637-22659C>T (n.637-22659C>T) | |
| 15 | g.48497309G>C | CA392335672 | FBN1 | c.2250C>G (p.Cys750Trp) n.924C>G c.637-22659C>G (n.637-22659C>G) | |
| 15 | g.48497309G>T | CA392335673 | FBN1 | c.2250C>A (p.Cys750Ter) n.924C>A c.637-22659C>A (n.637-22659C>A) | |
| 15 | g.48497309_48497327del | CA2695220745 | FBN1 | c.2232_2250del (p.Thr745IlefsTer21) n.906_924del c.637-22677_637-22659del (n.637-22677_637-22659del) | |
| 15 | g.48497310C>A | CA392335674 | FBN1 | c.2249G>T (p.Cys750Phe) n.923G>T c.637-22660G>T (n.637-22660G>T) | ClinVar |
| 15 | g.48497310C= | CA2175521356 | FBN1 | c.2249G= (p.Cys750=) n.923G= c.637-22660G= (n.637-22660G=) | |
| 15 | g.48497310C>G | CA392335675 | FBN1 | c.2249G>C (p.Cys750Ser) n.923G>C c.637-22660G>C (n.637-22660G>C) | |
| 15 | g.48497310C>T | CA392335676 | FBN1 | c.2249G>A (p.Cys750Tyr) n.923G>A c.637-22660G>A (n.637-22660G>A) | ClinVar dbSNP |
| 15 | g.48497311A= | CA2175521358 | FBN1 | c.2248T= (p.Cys750=) n.922T= c.637-22661T= (n.637-22661T=) | |
| 15 | g.48497311A>C | CA392335679 | FBN1 | c.2248T>G (p.Cys750Gly) n.922T>G c.637-22661T>G (n.637-22661T>G) | |
| 15 | g.48497311A>G | CA392335678 | FBN1 | c.2248T>C (p.Cys750Arg) n.922T>C c.637-22661T>C (n.637-22661T>C) | ClinVar dbSNP |
| 15 | g.48497311A>T | CA392335677 | FBN1 | c.2248T>A (p.Cys750Ser) n.922T>A c.637-22661T>A (n.637-22661T>A) | |
| 15 | g.48497312T>A | CA490023612 | FBN1 | c.2247A>T (p.Ile749=) n.921A>T c.637-22662A>T (n.637-22662A>T) | |
| 15 | g.48497312T>C | CA392335680 | FBN1 | c.2247A>G (p.Ile749Met) n.921A>G c.637-22662A>G (n.637-22662A>G) | |
| 15 | g.48497312T>G | CA490023613 | FBN1 | c.2247A>C (p.Ile749=) n.921A>C c.637-22662A>C (n.637-22662A>C) | |
| 15 | g.48497313A>C | CA392335681 | FBN1 | c.2246T>G (p.Ile749Arg) n.920T>G c.637-22663T>G (n.637-22663T>G) | |
| 15 | g.48497313A>G | CA392335682 | FBN1 | c.2246T>C (p.Ile749Thr) n.920T>C c.637-22663T>C (n.637-22663T>C) | |
| 15 | g.48497313A>T | CA392335683 | FBN1 | c.2246T>A (p.Ile749Lys) n.920T>A c.637-22663T>A (n.637-22663T>A) | |
| 15 | g.48497314T>A | CA392335684 | FBN1 | c.2245A>T (p.Ile749Leu) n.919A>T c.637-22664A>T (n.637-22664A>T) | |
| 15 | g.48497314T>C | CA392335685 | FBN1 | c.2245A>G (p.Ile749Val) n.919A>G c.637-22664A>G (n.637-22664A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48497314T>G | CA392335686 | FBN1 | c.2245A>C (p.Ile749Leu) n.919A>C c.637-22664A>C (n.637-22664A>C) | ClinVar |
| 15 | g.48497314T= | CA2175521362 | FBN1 | c.2245A= (p.Ile749=) n.919A= c.637-22664A= (n.637-22664A=) | |
| 15 | g.48497315A>C | CA392335687 | FBN1 | c.2244T>G (p.Cys748Trp) n.918T>G c.637-22665T>G (n.637-22665T>G) | |
| 15 | g.48497315A>G | CA490023614 | FBN1 | c.2244T>C (p.Cys748=) n.918T>C c.637-22665T>C (n.637-22665T>C) | |
| 15 | g.48497315A>T | CA392335688 | FBN1 | c.2244T>A (p.Cys748Ter) n.918T>A c.637-22665T>A (n.637-22665T>A) | |
| 15 | g.48497315_48497316delinsAC | CA2175521364 | FBN1 | c.2243_2244delinsGT (p.Cys748=) n.917_918delinsGT c.637-22666_637-22665delinsGT (n.637-22666_637-22665delinsGT) | |
| 15 | g.48497316del | CA658824469 | FBN1 | c.2243del (p.Cys748LeufsTer24) n.917del c.637-22666del (n.637-22666del) | ClinVar dbSNP |
| 15 | g.48497316C>A | CA392335689 | FBN1 | c.2243G>T (p.Cys748Phe) n.917G>T c.637-22666G>T (n.637-22666G>T) | |
| 15 | g.48497316C= | CA2175521367 | FBN1 | c.2243G= (p.Cys748=) n.917G= c.637-22666G= (n.637-22666G=) | |
| 15 | g.48497316C>G | CA392335690 | FBN1 | c.2243G>C (p.Cys748Ser) n.917G>C c.637-22666G>C (n.637-22666G>C) | |
| 15 | g.48497316C>T | CA16619969 | FBN1 | c.2243G>A (p.Cys748Tyr) n.917G>A c.637-22666G>A (n.637-22666G>A) | ClinVar dbSNP |
| 15 | g.48497317A= | CA2175521370 | FBN1 | c.2242T= (p.Cys748=) n.916T= c.637-22667T= (n.637-22667T=) | |
| 15 | g.48497317A>C | CA392335691 | FBN1 | c.2242T>G (p.Cys748Gly) n.916T>G c.637-22667T>G (n.637-22667T>G) | |
| 15 | g.48497317A>G | CA012895 | FBN1 | c.2242T>C (p.Cys748Arg) n.916T>C c.637-22667T>C (n.637-22667T>C) | ClinVar dbSNP |
| 15 | g.48497317A>T | CA392335692 | FBN1 | c.2242T>A (p.Cys748Ser) n.916T>A c.637-22667T>A (n.637-22667T>A) | |
| 15 | g.48497318T>A | CA392335694 | FBN1 | c.2241A>T (p.Lys747Asn) n.915A>T c.637-22668A>T (n.637-22668A>T) | |
| 15 | g.48497318T>C | CA269539871 | FBN1 | c.2241A>G (p.Lys747=) n.915A>G c.637-22668A>G (n.637-22668A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48497318T>G | CA392335693 | FBN1 | c.2241A>C (p.Lys747Asn) n.915A>C c.637-22668A>C (n.637-22668A>C) | |
| 15 | g.48497318T= | CA2175521372 | FBN1 | c.2241A= (p.Lys747=) n.915A= c.637-22668A= (n.637-22668A=) | |
| 15 | g.48497318_48497319insATC | CA2567081409 | FBN1 | c.2240_2241insGAT (p.Lys747_Cys748insIle) n.914_915insGAT c.637-22669_637-22668insGAT (n.637-22669_637-22668insGAT) | |
| 15 | g.48497319T>A | CA392335695 | FBN1 | c.2240A>T (p.Lys747Ile) n.914A>T c.637-22669A>T (n.637-22669A>T) | |
| 15 | g.48497319T>C | CA392335696 | FBN1 | c.2240A>G (p.Lys747Arg) n.914A>G c.637-22669A>G (n.637-22669A>G) | |
| 15 | g.48497319T>G | CA392335697 | FBN1 | c.2240A>C (p.Lys747Thr) n.914A>C c.637-22669A>C (n.637-22669A>C) | |
| 15 | g.48497320T>A | CA392335698 | FBN1 | c.2239A>T (p.Lys747Ter) n.913A>T c.637-22670A>T (n.637-22670A>T) | |
| 15 | g.48497320T>C | CA392335699 | FBN1 | c.2239A>G (p.Lys747Glu) n.913A>G c.637-22670A>G (n.637-22670A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497320T>G | CA392335700 | FBN1 | c.2239A>C (p.Lys747Gln) n.913A>C c.637-22670A>C (n.637-22670A>C) | |
| 15 | g.48497320T= | CA2175521373 | FBN1 | c.2239A= (p.Lys747=) n.913A= c.637-22670A= (n.637-22670A=) | |
| 15 | g.48497320_48497321insTAGTAACAAA | CA2563036979 | FBN1 | c.2238_2239insTTTGTTACTA (p.Lys747PhefsTer12) n.912_913insTTTGTTACTA c.637-22671_637-22670insTTTGTTACTA (n.637-22671_637-22670insTTTGTTACTA) | |
| 15 | g.48497321A>C | CA392335702 | FBN1 | c.2238T>G (p.Tyr746Ter) n.912T>G c.637-22671T>G (n.637-22671T>G) | |
| 15 | g.48497321A>G | CA490023616 | FBN1 | c.2238T>C (p.Tyr746=) n.912T>C c.637-22671T>C (n.637-22671T>C) | gnomAD v4 |
| 15 | g.48497321A>T | CA392335701 | FBN1 | c.2238T>A (p.Tyr746Ter) n.912T>A c.637-22671T>A (n.637-22671T>A) | |
| 15 | g.48497322T>A | CA392335703 | FBN1 | c.2237A>T (p.Tyr746Phe) n.911A>T c.637-22672A>T (n.637-22672A>T) | |
| 15 | g.48497322T>C | CA16602231 | FBN1 | c.2237A>G (p.Tyr746Cys) n.911A>G c.637-22672A>G (n.637-22672A>G) | ClinVar dbSNP |
| 15 | g.48497322T>G | CA392335704 | FBN1 | c.2237A>C (p.Tyr746Ser) n.911A>C c.637-22672A>C (n.637-22672A>C) | |
| 15 | g.48497322T= | CA2175521374 | FBN1 | c.2237A= (p.Tyr746=) n.911A= c.637-22672A= (n.637-22672A=) | |
| 15 | g.48497323A>C | CA392335705 | FBN1 | c.2236T>G (p.Tyr746Asp) n.910T>G c.637-22673T>G (n.637-22673T>G) | |
| 15 | g.48497323A>G | CA392335706 | FBN1 | c.2236T>C (p.Tyr746His) n.910T>C c.637-22673T>C (n.637-22673T>C) | |
| 15 | g.48497323A>T | CA392335707 | FBN1 | c.2236T>A (p.Tyr746Asn) n.910T>A c.637-22673T>A (n.637-22673T>A) | |
| 15 | g.48497324G>A | CA490023617 | FBN1 | c.2235C>T (p.Thr745=) n.909C>T c.637-22674C>T (n.637-22674C>T) | |
| 15 | g.48497324G>C | CA490023618 | FBN1 | c.2235C>G (p.Thr745=) n.909C>G c.637-22674C>G (n.637-22674C>G) | ClinVar |
| 15 | g.48497324G>T | CA490023619 | FBN1 | c.2235C>A (p.Thr745=) n.909C>A c.637-22674C>A (n.637-22674C>A) | gnomAD v4 |
| 15 | g.48497324_48497327del | CA2695220748 | FBN1 | c.2232_2235del (p.Thr745IlefsTer26) n.906_909del c.637-22677_637-22674del (n.637-22677_637-22674del) | |
| 15 | g.48497324_48497336del | CA2695220747 | FBN1 | c.2223_2235del (p.Leu742IlefsTer26) n.897_909del c.637-22686_637-22674del (n.637-22686_637-22674del) | |
| 15 | g.48497325G>A | CA392335708 | FBN1 | c.2234C>T (p.Thr745Ile) n.908C>T c.637-22675C>T (n.637-22675C>T) | |
| 15 | g.48497325G>C | CA392335710 | FBN1 | c.2234C>G (p.Thr745Ser) n.908C>G c.637-22675C>G (n.637-22675C>G) | |
| 15 | g.48497325G>T | CA392335709 | FBN1 | c.2234C>A (p.Thr745Asn) n.908C>A c.637-22675C>A (n.637-22675C>A) | |
| 15 | g.48497326T>A | CA392335711 | FBN1 | c.2233A>T (p.Thr745Ser) n.907A>T c.637-22676A>T (n.637-22676A>T) | |
| 15 | g.48497326T>C | CA392335712 | FBN1 | c.2233A>G (p.Thr745Ala) n.907A>G c.637-22676A>G (n.637-22676A>G) | |
| 15 | g.48497326T>G | CA392335713 | FBN1 | c.2233A>C (p.Thr745Pro) n.907A>C c.637-22676A>C (n.637-22676A>C) | |
| 15 | g.48497327C>A | CA490023621 | FBN1 | c.2232G>T (p.Gly744=) n.906G>T c.637-22677G>T (n.637-22677G>T) | ClinVar dbSNP |
| 15 | g.48497327C= | CA2175521376 | FBN1 | c.2232G= (p.Gly744=) n.906G= c.637-22677G= (n.637-22677G=) | |
| 15 | g.48497327C>G | CA047229 | FBN1 | c.2232G>C (p.Gly744=) n.906G>C c.637-22677G>C (n.637-22677G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497327C>T | CA490023620 | FBN1 | c.2232G>A (p.Gly744=) n.906G>A c.637-22677G>A (n.637-22677G>A) | |
| 15 | g.48497328C>A | CA392335714 | FBN1 | c.2231G>T (p.Gly744Val) n.905G>T c.637-22678G>T (n.637-22678G>T) | |
| 15 | g.48497328C>G | CA392335715 | FBN1 | c.2231G>C (p.Gly744Ala) n.905G>C c.637-22678G>C (n.637-22678G>C) | |
| 15 | g.48497328C>T | CA392335716 | FBN1 | c.2231G>A (p.Gly744Glu) n.905G>A c.637-22678G>A (n.637-22678G>A) | |
| 15 | g.48497329C>A | CA392335717 | FBN1 | c.2230G>T (p.Gly744Trp) n.904G>T c.637-22679G>T (n.637-22679G>T) | |
| 15 | g.48497329C= | CA2175521377 | FBN1 | c.2230G= (p.Gly744=) n.904G= c.637-22679G= (n.637-22679G=) | |
| 15 | g.48497329C>G | CA392335718 | FBN1 | c.2230G>C (p.Gly744Arg) n.904G>C c.637-22679G>C (n.637-22679G>C) | |
| 15 | g.48497329C>T | CA392335719 | FBN1 | c.2230G>A (p.Gly744Arg) n.904G>A c.637-22679G>A (n.637-22679G>A) | dbSNP |
| 15 | g.48497330A>C | CA490023622 | FBN1 | c.2229T>G (p.Arg743=) n.903T>G c.637-22680T>G (n.637-22680T>G) | |
| 15 | g.48497330A>G | CA490023623 | FBN1 | c.2229T>C (p.Arg743=) n.903T>C c.637-22680T>C (n.637-22680T>C) | |
| 15 | g.48497330A>T | CA490023624 | FBN1 | c.2229T>A (p.Arg743=) n.903T>A c.637-22680T>A (n.637-22680T>A) | |
| 15 | g.48497331C>A | CA392335720 | FBN1 | c.2228G>T (p.Arg743Leu) n.902G>T c.637-22681G>T (n.637-22681G>T) | gnomAD v4 |
| 15 | g.48497331C= | CA2175521379 | FBN1 | c.2228G= (p.Arg743=) n.902G= c.637-22681G= (n.637-22681G=) | |
| 15 | g.48497331C>G | CA392335721 | FBN1 | c.2228G>C (p.Arg743Pro) n.902G>C c.637-22681G>C (n.637-22681G>C) | ClinVar |
| 15 | g.48497331C>T | CA047216 | FBN1 | c.2228G>A (p.Arg743His) n.902G>A c.637-22681G>A (n.637-22681G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48497331_48497332delinsCG | CA2175521381 | FBN1 | c.2227_2228delinsCG (p.Arg743=) n.901_902delinsCG c.637-22682_637-22681delinsCG (n.637-22682_637-22681delinsCG) |