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.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) | |
| 15 | g.48497332del | CA10587850 | FBN1 | c.2227del (p.Arg743ValfsTer29) n.901del c.637-22682del (n.637-22682del) | ClinVar dbSNP |
| 15 | g.48497332G>A | CA012886 | FBN1 | c.2227C>T (p.Arg743Cys) n.901C>T c.637-22682C>T (n.637-22682C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48497332G>C | CA392335722 | FBN1 | c.2227C>G (p.Arg743Gly) n.901C>G c.637-22682C>G (n.637-22682C>G) | |
| 15 | g.48497332G= | CA2175521384 | FBN1 | c.2227C= (p.Arg743=) n.901C= c.637-22682C= (n.637-22682C=) | |
| 15 | g.48497332G>T | CA392335723 | FBN1 | c.2227C>A (p.Arg743Ser) n.901C>A c.637-22682C>A (n.637-22682C>A) | |
| 15 | g.48497333A>C | CA490023627 | FBN1 | c.2226T>G (p.Leu742=) n.900T>G c.637-22683T>G (n.637-22683T>G) | |
| 15 | g.48497333A>G | CA490023625 | FBN1 | c.2226T>C (p.Leu742=) n.900T>C c.637-22683T>C (n.637-22683T>C) | |
| 15 | g.48497333A>T | CA490023626 | FBN1 | c.2226T>A (p.Leu742=) n.900T>A c.637-22683T>A (n.637-22683T>A) | |
| 15 | g.48497334A= | CA2175521387 | FBN1 | c.2225T= (p.Leu742=) n.899T= c.637-22684T= (n.637-22684T=) | |
| 15 | g.48497334A>C | CA392335724 | FBN1 | c.2225T>G (p.Leu742Arg) n.899T>G c.637-22684T>G (n.637-22684T>G) | |
| 15 | g.48497334A>G | CA392335725 | FBN1 | c.2225T>C (p.Leu742Pro) n.899T>C c.637-22684T>C (n.637-22684T>C) | ClinVar dbSNP |
| 15 | g.48497334A>T | CA392335726 | FBN1 | c.2225T>A (p.Leu742His) n.899T>A c.637-22684T>A (n.637-22684T>A) | |
| 15 | g.48497335G>A | CA392335727 | FBN1 | c.2224C>T (p.Leu742Phe) n.898C>T c.637-22685C>T (n.637-22685C>T) | |
| 15 | g.48497335G>C | CA392335728 | FBN1 | c.2224C>G (p.Leu742Val) n.898C>G c.637-22685C>G (n.637-22685C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497335G= | CA2175521389 | FBN1 | c.2224C= (p.Leu742=) n.898C= c.637-22685C= (n.637-22685C=) | |
| 15 | g.48497335G>T | CA392335729 | FBN1 | c.2224C>A (p.Leu742Ile) n.898C>A c.637-22685C>A (n.637-22685C>A) | gnomAD v4 |
| 15 | g.48497336G>A | CA490023628 | FBN1 | c.2223C>T (p.Asn741=) n.897C>T c.637-22686C>T (n.637-22686C>T) | |
| 15 | g.48497336G>C | CA392335730 | FBN1 | c.2223C>G (p.Asn741Lys) n.897C>G c.637-22686C>G (n.637-22686C>G) | |
| 15 | g.48497336G>T | CA392335731 | FBN1 | c.2223C>A (p.Asn741Lys) n.897C>A c.637-22686C>A (n.637-22686C>A) | ClinVar gnomAD v4 |
| 15 | g.48497336_48497337delinsAA | CA2695220749 | FBN1 | c.2222_2223delinsTT (p.Asn741Ile) n.896_897delinsTT c.637-22687_637-22686delinsTT (n.637-22687_637-22686delinsTT) | |
| 15 | g.48497337T>A | CA392335732 | FBN1 | c.2222A>T (p.Asn741Ile) n.896A>T c.637-22687A>T (n.637-22687A>T) | |
| 15 | g.48497337T>C | CA392335733 | FBN1 | c.2222A>G (p.Asn741Ser) n.896A>G c.637-22687A>G (n.637-22687A>G) | ClinVar |
| 15 | g.48497337T>G | CA392335734 | FBN1 | c.2222A>C (p.Asn741Thr) n.896A>C c.637-22687A>C (n.637-22687A>C) | |
| 15 | g.48497340del | CA2580089658 | FBN1 | c.2222del (p.Asn741ThrfsTer?) n.896del c.637-22687del (n.637-22687del) | ClinVar |
| 15 | g.48497338T>A | CA392335737 | FBN1 | c.2221A>T (p.Asn741Tyr) n.895A>T c.637-22688A>T (n.637-22688A>T) | |
| 15 | g.48497338T>C | CA392335735 | FBN1 | c.2221A>G (p.Asn741Asp) n.895A>G c.637-22688A>G (n.637-22688A>G) | |
| 15 | g.48497338T>G | CA392335736 | FBN1 | c.2221A>C (p.Asn741His) n.895A>C c.637-22688A>C (n.637-22688A>C) | |
| 15 | g.48497339T>A | CA392335738 | FBN1 | c.2220A>T (p.Glu740Asp) n.894A>T c.637-22689A>T (n.637-22689A>T) | |
| 15 | g.48497339T>C | CA490023630 | FBN1 | c.2220A>G (p.Glu740=) n.894A>G c.637-22689A>G (n.637-22689A>G) | |
| 15 | g.48497339T>G | CA392335739 | FBN1 | c.2220A>C (p.Glu740Asp) n.894A>C c.637-22689A>C (n.637-22689A>C) | |
| 15 | g.48497340T>A | CA392335740 | FBN1 | c.2219A>T (p.Glu740Val) n.893A>T c.637-22690A>T (n.637-22690A>T) | |
| 15 | g.48497340T>C | CA392335741 | FBN1 | c.2219A>G (p.Glu740Gly) n.893A>G c.637-22690A>G (n.637-22690A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48497340T>G | CA392335742 | FBN1 | c.2219A>C (p.Glu740Ala) n.893A>C c.637-22690A>C (n.637-22690A>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48497340T= | CA2175521392 | FBN1 | c.2219A= (p.Glu740=) n.893A= c.637-22690A= (n.637-22690A=) | |
| 15 | g.48497341C>A | CA392335743 | FBN1 | c.2218G>T (p.Glu740Ter) n.892G>T c.637-22691G>T (n.637-22691G>T) | |
| 15 | g.48497341C>G | CA392335744 | FBN1 | c.2218G>C (p.Glu740Gln) n.892G>C c.637-22691G>C (n.637-22691G>C) | |
| 15 | g.48497341C>T | CA392335745 | FBN1 | c.2218G>A (p.Glu740Lys) n.892G>A c.637-22691G>A (n.637-22691G>A) | |
| 15 | g.48497343_48497344del | CA2695220750 | FBN1 | c.2217_2218del (p.Cys739Ter) n.891_892del c.637-22692_637-22691del (n.637-22692_637-22691del) | |
| 15 | g.48497342A= | CA2175521394 | FBN1 | c.2217T= (p.Cys739=) n.891T= c.637-22692T= (n.637-22692T=) | |
| 15 | g.48497342A>C | CA392335746 | FBN1 | c.2217T>G (p.Cys739Trp) n.891T>G c.637-22692T>G (n.637-22692T>G) | ClinVar dbSNP |
| 15 | g.48497342A>G | CA269539914 | FBN1 | c.2217T>C (p.Cys739=) n.891T>C c.637-22692T>C (n.637-22692T>C) | dbSNP gnomAD v4 |
| 15 | g.48497342A>T | CA392335747 | FBN1 | c.2217T>A (p.Cys739Ter) n.891T>A c.637-22692T>A (n.637-22692T>A) | |
| 15 | g.48497343_48497346del | CA2580089660 | FBN1 | c.2214_2217del (p.Ile738MetfsTer?) n.888_891del c.637-22695_637-22692del (n.637-22695_637-22692del) | ClinVar |
| 15 | g.48497343C>A | CA392335748 | FBN1 | c.2216G>T (p.Cys739Phe) n.890G>T c.637-22693G>T (n.637-22693G>T) | |
| 15 | g.48497343C= | CA2175521396 | FBN1 | c.2216G= (p.Cys739=) n.890G= c.637-22693G= (n.637-22693G=) | |
| 15 | g.48497343C>G | CA392335749 | FBN1 | c.2216G>C (p.Cys739Ser) n.890G>C c.637-22693G>C (n.637-22693G>C) | |
| 15 | g.48497343C>T | CA392335750 | FBN1 | c.2216G>A (p.Cys739Tyr) n.890G>A c.637-22693G>A (n.637-22693G>A) | ClinVar dbSNP |
| 15 | g.48497344A>C | CA392335751 | FBN1 | c.2215T>G (p.Cys739Gly) n.889T>G c.637-22694T>G (n.637-22694T>G) | |
| 15 | g.48497344A>G | CA392335752 | FBN1 | c.2215T>C (p.Cys739Arg) n.889T>C c.637-22694T>C (n.637-22694T>C) | |
| 15 | g.48497344A>T | CA392335753 | FBN1 | c.2215T>A (p.Cys739Ser) n.889T>A c.637-22694T>A (n.637-22694T>A) | |
| 15 | g.48497345G>A | CA490023631 | FBN1 | c.2214C>T (p.Ile738=) n.888C>T c.637-22695C>T (n.637-22695C>T) | ClinVar dbSNP |
| 15 | g.48497345G>C | CA392335754 | FBN1 | c.2214C>G (p.Ile738Met) n.888C>G c.637-22695C>G (n.637-22695C>G) | |
| 15 | g.48497345G= | CA2175521397 | FBN1 | c.2214C= (p.Ile738=) n.888C= c.637-22695C= (n.637-22695C=) | |
| 15 | g.48497345G>T | CA490023632 | FBN1 | c.2214C>A (p.Ile738=) n.888C>A c.637-22695C>A (n.637-22695C>A) | gnomAD v4 |
| 15 | g.48497346A>C | CA392335755 | FBN1 | c.2213T>G (p.Ile738Ser) n.887T>G c.637-22696T>G (n.637-22696T>G) | |
| 15 | g.48497346A>G | CA392335756 | FBN1 | c.2213T>C (p.Ile738Thr) n.887T>C c.637-22696T>C (n.637-22696T>C) | |
| 15 | g.48497346A>T | CA392335757 | FBN1 | c.2213T>A (p.Ile738Asn) n.887T>A c.637-22696T>A (n.637-22696T>A) | |
| 15 | g.48497346dup | CA16614441 | FBN1 | c.2213dup (p.Cys739LeufsTer2) n.887dup c.637-22696dup (n.637-22696dup) | ClinVar dbSNP |
| 15 | g.48497347T>A | CA392335758 | FBN1 | c.2212A>T (p.Ile738Phe) n.886A>T c.637-22697A>T (n.637-22697A>T) | |
| 15 | g.48497347T>C | CA392335759 | FBN1 | c.2212A>G (p.Ile738Val) n.886A>G c.637-22697A>G (n.637-22697A>G) | |
| 15 | g.48497347T>G | CA392335760 | FBN1 | c.2212A>C (p.Ile738Leu) n.886A>C c.637-22697A>C (n.637-22697A>C) | |
| 15 | g.48497348T>A | CA490023633 | FBN1 | c.2211A>T (p.Gly737=) n.885A>T c.637-22698A>T (n.637-22698A>T) | |
| 15 | g.48497348T>C | CA490023634 | FBN1 | c.2211A>G (p.Gly737=) n.885A>G c.637-22698A>G (n.637-22698A>G) | |
| 15 | g.48497348T>G | CA490023635 | FBN1 | c.2211A>C (p.Gly737=) n.885A>C c.637-22698A>C (n.637-22698A>C) | |
| 15 | g.48497349C>A | CA392335761 | FBN1 | c.2210G>T (p.Gly737Val) n.884G>T c.637-22699G>T (n.637-22699G>T) | |
| 15 | g.48497349C>G | CA392335762 | FBN1 | c.2210G>C (p.Gly737Ala) n.884G>C c.637-22699G>C (n.637-22699G>C) | |
| 15 | g.48497349C>T | CA392335763 | FBN1 | c.2210G>A (p.Gly737Glu) n.884G>A c.637-22699G>A (n.637-22699G>A) | |
| 15 | g.48497350C>A | CA392335764 | FBN1 | c.2209G>T (p.Gly737Ter) n.883G>T c.637-22700G>T (n.637-22700G>T) | |
| 15 | g.48497350C= | CA2175521401 | FBN1 | c.2209G= (p.Gly737=) n.883G= c.637-22700G= (n.637-22700G=) | |
| 15 | g.48497350C>G | CA392335765 | FBN1 | c.2209G>C (p.Gly737Arg) n.883G>C c.637-22700G>C (n.637-22700G>C) | |
| 15 | g.48497350C>T | CA392335766 | FBN1 | c.2209G>A (p.Gly737Arg) n.883G>A c.637-22700G>A (n.637-22700G>A) | ClinVar dbSNP |
| 15 | g.48497351A= | CA2175521402 | FBN1 | c.2208T= (p.Asn736=) n.882T= c.637-22701T= (n.637-22701T=) | |
| 15 | g.48497351A>C | CA392335767 | FBN1 | c.2208T>G (p.Asn736Lys) n.882T>G c.637-22701T>G (n.637-22701T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497351A>G | CA490023636 | FBN1 | c.2208T>C (p.Asn736=) n.882T>C c.637-22701T>C (n.637-22701T>C) | gnomAD v4 |
| 15 | g.48497351A>T | CA392335768 | FBN1 | c.2208T>A (p.Asn736Lys) n.882T>A c.637-22701T>A (n.637-22701T>A) | gnomAD v4 |
| 15 | g.48497352T>A | CA392335769 | FBN1 | c.2207A>T (p.Asn736Ile) n.881A>T c.637-22702A>T (n.637-22702A>T) | dbSNP |
| 15 | g.48497352T>C | CA392335771 | FBN1 | c.2207A>G (p.Asn736Ser) n.881A>G c.637-22702A>G (n.637-22702A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48497352T>G | CA392335770 | FBN1 | c.2207A>C (p.Asn736Thr) n.881A>C c.637-22702A>C (n.637-22702A>C) | |
| 15 | g.48497352T= | CA2175521404 | FBN1 | c.2207A= (p.Asn736=) n.881A= c.637-22702A= (n.637-22702A=) | |
| 15 | g.48497353T>A | CA392335772 | FBN1 | c.2206A>T (p.Asn736Tyr) n.880A>T c.637-22703A>T (n.637-22703A>T) | |
| 15 | g.48497353T>C | CA10583250 | FBN1 | c.2206A>G (p.Asn736Asp) n.880A>G c.637-22703A>G (n.637-22703A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497353T>G | CA392335773 | FBN1 | c.2206A>C (p.Asn736His) n.880A>C c.637-22703A>C (n.637-22703A>C) | |
| 15 | g.48497353T= | CA2175521406 | FBN1 | c.2206A= (p.Asn736=) n.880A= c.637-22703A= (n.637-22703A=) | |
| 15 | g.48497354T>A | CA490023637 | FBN1 | c.2205A>T (p.Pro735=) n.879A>T c.637-22704A>T (n.637-22704A>T) | |
| 15 | g.48497354T>C | CA047204 | FBN1 | c.2205A>G (p.Pro735=) n.879A>G c.637-22704A>G (n.637-22704A>G) | ClinVar dbSNP ExAC gnomAD v2 |
| 15 | g.48497354T>G | CA490023638 | FBN1 | c.2205A>C (p.Pro735=) n.879A>C c.637-22704A>C (n.637-22704A>C) | |
| 15 | g.48497354T= | CA2175521409 | FBN1 | c.2205A= (p.Pro735=) n.879A= c.637-22704A= (n.637-22704A=) | |
| 15 | g.48497355G>A | CA392335774 | FBN1 | c.2204C>T (p.Pro735Leu) n.878C>T c.637-22705C>T (n.637-22705C>T) | |
| 15 | g.48497355G>C | CA392335775 | FBN1 | c.2204C>G (p.Pro735Arg) n.878C>G c.637-22705C>G (n.637-22705C>G) | ClinVar gnomAD v4 |
| 15 | g.48497355G>T | CA392335776 | FBN1 | c.2204C>A (p.Pro735Gln) n.878C>A c.637-22705C>A (n.637-22705C>A) | gnomAD v4 |
| 15 | g.48497356G>A | CA392335777 | FBN1 | c.2203C>T (p.Pro735Ser) n.877C>T c.637-22706C>T (n.637-22706C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48497356G>C | CA392335778 | FBN1 | c.2203C>G (p.Pro735Ala) n.877C>G c.637-22706C>G (n.637-22706C>G) | |
| 15 | g.48497356G= | CA2175521411 | FBN1 | c.2203C= (p.Pro735=) n.877C= c.637-22706C= (n.637-22706C=) | |
| 15 | g.48497356G>T | CA392335779 | FBN1 | c.2203C>A (p.Pro735Thr) n.877C>A c.637-22706C>A (n.637-22706C>A) | |
| 15 | g.48497357G>A | CA490023639 | FBN1 | c.2202C>T (p.Cys734=) n.876C>T c.637-22707C>T (n.637-22707C>T) | |
| 15 | g.48497357G>C | CA392335780 | FBN1 | c.2202C>G (p.Cys734Trp) n.876C>G c.637-22707C>G (n.637-22707C>G) | |
| 15 | g.48497357G>T | CA392335781 | FBN1 | c.2202C>A (p.Cys734Ter) n.876C>A c.637-22707C>A (n.637-22707C>A) | |
| 15 | g.48497358C>A | CA012879 | FBN1 | c.2201G>T (p.Cys734Phe) n.875G>T c.637-22708G>T (n.637-22708G>T) | ClinVar dbSNP |
| 15 | g.48497358C= | CA2175521412 | FBN1 | c.2201G= (p.Cys734=) n.875G= c.637-22708G= (n.637-22708G=) | |
| 15 | g.48497358C>G | CA392335782 | FBN1 | c.2201G>C (p.Cys734Ser) n.875G>C c.637-22708G>C (n.637-22708G>C) | ClinVar dbSNP |
| 15 | g.48497358C>T | CA10587853 | FBN1 | c.2201G>A (p.Cys734Tyr) n.875G>A c.637-22708G>A (n.637-22708G>A) | ClinVar dbSNP |
| 15 | g.48497359A>C | CA392335783 | FBN1 | c.2200T>G (p.Cys734Gly) n.874T>G c.637-22709T>G (n.637-22709T>G) | |
| 15 | g.48497359A>G | CA392335784 | FBN1 | c.2200T>C (p.Cys734Arg) n.874T>C c.637-22709T>C (n.637-22709T>C) | ClinVar dbSNP |
| 15 | g.48497359A>T | CA392335785 | FBN1 | c.2200T>A (p.Cys734Ser) n.874T>A c.637-22709T>A (n.637-22709T>A) | ClinVar |
| 15 | g.48497360A>C | CA392335786 | FBN1 | c.2199T>G (p.Ile733Met) n.873T>G c.637-22710T>G (n.637-22710T>G) | |
| 15 | g.48497360A>G | CA490023640 | FBN1 | c.2199T>C (p.Ile733=) n.873T>C c.637-22710T>C (n.637-22710T>C) | |
| 15 | g.48497360A>T | CA490023641 | FBN1 | c.2199T>A (p.Ile733=) n.873T>A c.637-22710T>A (n.637-22710T>A) | |
| 15 | g.48497361A>C | CA392335787 | FBN1 | c.2198T>G (p.Ile733Ser) n.872T>G c.637-22711T>G (n.637-22711T>G) | |
| 15 | g.48497361A>G | CA392335788 | FBN1 | c.2198T>C (p.Ile733Thr) n.872T>C c.637-22711T>C (n.637-22711T>C) | |
| 15 | g.48497361A>T | CA392335790 | FBN1 | c.2198T>A (p.Ile733Asn) n.872T>A c.637-22711T>A (n.637-22711T>A) | |
| 15 | g.48497362T>A | CA392335793 | FBN1 | c.2197A>T (p.Ile733Phe) n.871A>T c.637-22712A>T (n.637-22712A>T) | |
| 15 | g.48497362T>C | CA047185 | FBN1 | c.2197A>G (p.Ile733Val) n.871A>G c.637-22712A>G (n.637-22712A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497362T>G | CA392335796 | FBN1 | c.2197A>C (p.Ile733Leu) n.871A>C c.637-22712A>C (n.637-22712A>C) | |
| 15 | g.48497362T= | CA2175521416 | FBN1 | c.2197A= (p.Ile733=) n.871A= c.637-22712A= (n.637-22712A=) | |
| 15 | g.48497363A= | CA2175521418 | FBN1 | c.2196T= (p.Asp732=) n.870T= c.637-22713T= (n.637-22713T=) | |
| 15 | g.48497363A>C | CA392335798 | FBN1 | c.2196T>G (p.Asp732Glu) n.870T>G c.637-22713T>G (n.637-22713T>G) | |
| 15 | g.48497363A>G | CA269539942 | FBN1 | c.2196T>C (p.Asp732=) n.870T>C c.637-22713T>C (n.637-22713T>C) | dbSNP |
| 15 | g.48497363A>T | CA392335800 | FBN1 | c.2196T>A (p.Asp732Glu) n.870T>A c.637-22713T>A (n.637-22713T>A) | |
| 15 | g.48497364T>A | CA392335802 | FBN1 | c.2195A>T (p.Asp732Val) n.869A>T c.637-22714A>T (n.637-22714A>T) | |
| 15 | g.48497364T>C | CA392335806 | FBN1 | c.2195A>G (p.Asp732Gly) n.869A>G c.637-22714A>G (n.637-22714A>G) | |
| 15 | g.48497364T>G | CA392335804 | FBN1 | c.2195A>C (p.Asp732Ala) n.869A>C c.637-22714A>C (n.637-22714A>C) | |
| 15 | g.48497365C>A | CA392335809 | FBN1 | c.2194G>T (p.Asp732Tyr) n.868G>T c.637-22715G>T (n.637-22715G>T) | |
| 15 | g.48497365C>G | CA392335813 | FBN1 | c.2194G>C (p.Asp732His) n.868G>C c.637-22715G>C (n.637-22715G>C) | |
| 15 | g.48497365C>T | CA392335811 | FBN1 | c.2194G>A (p.Asp732Asn) n.868G>A c.637-22715G>A (n.637-22715G>A) | |
| 15 | g.48497366A>C | CA490023642 | FBN1 | c.2193T>G (p.Pro731=) n.867T>G c.637-22716T>G (n.637-22716T>G) | dbSNP |
| 15 | g.48497366A>G | CA490023643 | FBN1 | c.2193T>C (p.Pro731=) n.867T>C c.637-22716T>C (n.637-22716T>C) | COSMIC |
| 15 | g.48497366A>T | CA490023644 | FBN1 | c.2193T>A (p.Pro731=) n.867T>A c.637-22716T>A (n.637-22716T>A) | |
| 15 | g.48497367G>A | CA392335815 | FBN1 | c.2192C>T (p.Pro731Leu) n.866C>T c.637-22717C>T (n.637-22717C>T) | |
| 15 | g.48497367G>C | CA269539943 | FBN1 | c.2192C>G (p.Pro731Arg) n.866C>G c.637-22717C>G (n.637-22717C>G) | dbSNP |
| 15 | g.48497367G= | CA2175521420 | FBN1 | c.2192C= (p.Pro731=) n.866C= c.637-22717C= (n.637-22717C=) | |
| 15 | g.48497367G>T | CA392335817 | FBN1 | c.2192C>A (p.Pro731His) n.866C>A c.637-22717C>A (n.637-22717C>A) | |
| 15 | g.48497368del | CA2695220751 | FBN1 | c.2192del (p.Pro731LeufsTer?) n.866del c.637-22717del (n.637-22717del) | |
| 15 | g.48497367_48497386dup | CA2499223006 | FBN1 | c.2173_2192dup (p.Asp732MetfsTer5) n.847_866dup c.637-22736_637-22717dup (n.637-22736_637-22717dup) | ClinVar dbSNP |
| 15 | g.48497368G>A | CA392335819 | FBN1 | c.2191C>T (p.Pro731Ser) n.865C>T c.637-22718C>T (n.637-22718C>T) | |
| 15 | g.48497368G>C | CA392335821 | FBN1 | c.2191C>G (p.Pro731Ala) n.865C>G c.637-22718C>G (n.637-22718C>G) | ClinVar gnomAD v4 |
| 15 | g.48497368G>T | CA392335823 | FBN1 | c.2191C>A (p.Pro731Thr) n.865C>A c.637-22718C>A (n.637-22718C>A) | gnomAD v4 |
| 15 | g.48497369A= | CA2175521421 | FBN1 | c.2190T= (p.Asp730=) n.864T= c.637-22719T= (n.637-22719T=) | |
| 15 | g.48497369A>C | CA392335826 | FBN1 | c.2190T>G (p.Asp730Glu) n.864T>G c.637-22719T>G (n.637-22719T>G) | |
| 15 | g.48497369A>G | CA490023645 | FBN1 | c.2190T>C (p.Asp730=) n.864T>C c.637-22719T>C (n.637-22719T>C) | dbSNP |
| 15 | g.48497369A>T | CA392335828 | FBN1 | c.2190T>A (p.Asp730Glu) n.864T>A c.637-22719T>A (n.637-22719T>A) | gnomAD v4 |
| 15 | g.48497370T>A | CA392335829 | FBN1 | c.2189A>T (p.Asp730Val) n.863A>T c.637-22720A>T (n.637-22720A>T) | |
| 15 | g.48497370T>C | CA392335832 | FBN1 | c.2189A>G (p.Asp730Gly) n.863A>G c.637-22720A>G (n.637-22720A>G) | |
| 15 | g.48497370T>G | CA392335834 | FBN1 | c.2189A>C (p.Asp730Ala) n.863A>C c.637-22720A>C (n.637-22720A>C) | |
| 15 | g.48497371C>A | CA392335837 | FBN1 | c.2188G>T (p.Asp730Tyr) n.862G>T c.637-22721G>T (n.637-22721G>T) | |
| 15 | g.48497371C= | CA2175521423 | FBN1 | c.2188G= (p.Asp730=) n.862G= c.637-22721G= (n.637-22721G=) | |
| 15 | g.48497371C>G | CA392335839 | FBN1 | c.2188G>C (p.Asp730His) n.862G>C c.637-22721G>C (n.637-22721G>C) | |
| 15 | g.48497371C>T | CA012868 | FBN1 | c.2188G>A (p.Asp730Asn) n.862G>A c.637-22721G>A (n.637-22721G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497372T>A | CA490023646 | FBN1 | c.2187A>T (p.Leu729=) n.861A>T c.637-22722A>T (n.637-22722A>T) | |
| 15 | g.48497372T>C | CA047179 | FBN1 | c.2187A>G (p.Leu729=) n.861A>G c.637-22722A>G (n.637-22722A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497372T>G | CA047171 | FBN1 | c.2187A>C (p.Leu729=) n.861A>C c.637-22722A>C (n.637-22722A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497372T= | CA2175521425 | FBN1 | c.2187A= (p.Leu729=) n.861A= c.637-22722A= (n.637-22722A=) | |
| 15 | g.48497372_48497373delinsTA | CA2175521426 | FBN1 | c.2186_2187delinsTA (p.Leu729=) n.860_861delinsTA c.637-22723_637-22722delinsTA (n.637-22723_637-22722delinsTA) | |
| 15 | g.48497373del | CA012860 | FBN1 | c.2186del (p.Leu729GlnfsTer?) n.860del c.637-22723del (n.637-22723del) | ClinVar dbSNP |
| 15 | g.48497373A= | CA2581198466 | FBN1 | c.2186T= (p.Leu729=) n.860T= c.637-22723T= (n.637-22723T=) | |
| 15 | g.48497373A>C | CA392335845 | FBN1 | c.2186T>G (p.Leu729Arg) n.860T>G c.637-22723T>G (n.637-22723T>G) | |
| 15 | g.48497373A>G | CA392335847 | FBN1 | c.2186T>C (p.Leu729Pro) n.860T>C c.637-22723T>C (n.637-22723T>C) | |
| 15 | g.48497373A>T | CA392335849 | FBN1 | c.2186T>A (p.Leu729Gln) n.860T>A c.637-22723T>A (n.637-22723T>A) |