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.48448766A>C | CA392341621 | FBN1 | c.5671+2T>G (n.5671+2T>G) n.4345+2T>G c.670+2T>G (n.670+2T>G) c.*1434+2T>G (n.*1434+2T>G) c.978+2T>G | |
| 15 | g.48448766A>G | CA392341623 | FBN1 | c.5671+2T>C (n.5671+2T>C) n.4345+2T>C c.670+2T>C (n.670+2T>C) c.*1434+2T>C (n.*1434+2T>C) c.978+2T>C | ClinVar |
| 15 | g.48448766A>T | CA392341625 | FBN1 | c.5671+2T>A (n.5671+2T>A) n.4345+2T>A c.670+2T>A (n.670+2T>A) c.*1434+2T>A (n.*1434+2T>A) c.978+2T>A | |
| 15 | g.48448767C>A | CA392341627 | FBN1 | c.5671+1G>T (n.5671+1G>T) n.4345+1G>T c.670+1G>T (n.670+1G>T) c.*1434+1G>T (n.*1434+1G>T) c.978+1G>T | ClinVar dbSNP |
| 15 | g.48448767C= | CA2175498123 | FBN1 | c.5671+1G= (n.5671+1G=) n.4345+1G= c.670+1G= (n.670+1G=) c.*1434+1G= (n.*1434+1G=) c.978+1G= | |
| 15 | g.48448767C>G | CA392341629 | FBN1 | c.5671+1G>C (n.5671+1G>C) n.4345+1G>C c.670+1G>C (n.670+1G>C) c.*1434+1G>C (n.*1434+1G>C) c.978+1G>C | |
| 15 | g.48448767C>T | CA269534972 | FBN1 | c.5671+1G>A (n.5671+1G>A) n.4345+1G>A c.670+1G>A (n.670+1G>A) c.*1434+1G>A (n.*1434+1G>A) c.978+1G>A | ClinVar dbSNP |
| 15 | g.48448769del | CA2573150908 | FBN1 | c.5671+1del n.4345+1del c.670+1del c.*1434+1del c.978+1del | ClinVar dbSNP |
| 15 | g.48448768C>A | CA392341633 | FBN1 | c.5671G>T (p.Asp1891Tyr) n.4345G>T c.670G>T (p.Asp224Tyr) c.*1434G>T (n.*1434G>T) c.978G>T | ClinVar |
| 15 | g.48448768C= | CA2175498135 | FBN1 | c.5671G= (p.Asp1891=) n.4345G= c.670G= (p.Asp224=) c.*1434G= (n.*1434G=) c.978G= | |
| 15 | g.48448768C>G | CA015930 | FBN1 | c.5671G>C (p.Asp1891His) n.4345G>C c.670G>C (p.Asp224His) c.*1434G>C (n.*1434G>C) c.978G>C | ClinVar dbSNP |
| 15 | g.48448768C>T | CA392341636 | FBN1 | c.5671G>A (p.Asp1891Asn) n.4345G>A c.670G>A (p.Asp224Asn) c.*1434G>A (n.*1434G>A) c.978G>A | ClinVar dbSNP |
| 15 | g.48448769C>A | CA392341638 | FBN1 | c.5670G>T (p.Leu1890Phe) n.4344G>T c.669G>T (p.Leu223Phe) c.*1433G>T (n.*1433G>T) c.977G>T | gnomAD v4 |
| 15 | g.48448769C= | CA2175498143 | FBN1 | c.5670G= (p.Leu1890=) n.4344G= c.669G= (p.Leu223=) c.*1433G= (n.*1433G=) c.977G= | |
| 15 | g.48448769C>G | CA392341640 | FBN1 | c.5670G>C (p.Leu1890Phe) n.4344G>C c.669G>C (p.Leu223Phe) c.*1433G>C (n.*1433G>C) c.977G>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48448769C>T | CA055342 | FBN1 | c.5670G>A (p.Leu1890=) n.4344G>A c.669G>A (p.Leu223=) c.*1433G>A (n.*1433G>A) c.977G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448770A>C | CA392341643 | FBN1 | c.5669T>G (p.Leu1890Trp) n.4343T>G c.668T>G (p.Leu223Trp) c.*1432T>G (n.*1432T>G) c.976T>G | |
| 15 | g.48448770A>G | CA392341647 | FBN1 | c.5669T>C (p.Leu1890Ser) n.4343T>C c.668T>C (p.Leu223Ser) c.*1432T>C (n.*1432T>C) c.976T>C | |
| 15 | g.48448770A>T | CA392341645 | FBN1 | c.5669T>A (p.Leu1890Ter) n.4343T>A c.668T>A (p.Leu223Ter) c.*1432T>A (n.*1432T>A) c.976T>A | |
| 15 | g.48448771A>C | CA392341649 | FBN1 | c.5668T>G (p.Leu1890Val) n.4342T>G c.667T>G (p.Leu223Val) c.*1431T>G (n.*1431T>G) c.975T>G | |
| 15 | g.48448771A>G | CA490023105 | FBN1 | c.5668T>C (p.Leu1890=) n.4342T>C c.667T>C (p.Leu223=) c.*1431T>C (n.*1431T>C) c.975T>C | |
| 15 | g.48448771A>T | CA392341651 | FBN1 | c.5668T>A (p.Leu1890Met) n.4342T>A c.667T>A (p.Leu223Met) c.*1431T>A (n.*1431T>A) c.975T>A | |
| 15 | g.48448772G>A | CA490023106 | FBN1 | c.5667C>T (p.Cys1889=) n.4341C>T c.666C>T (p.Cys222=) c.*1430C>T (n.*1430C>T) c.974C>T | gnomAD v4 |
| 15 | g.48448772G>C | CA392341653 | FBN1 | c.5667C>G (p.Cys1889Trp) n.4341C>G c.666C>G (p.Cys222Trp) c.*1430C>G (n.*1430C>G) c.974C>G | ClinVar |
| 15 | g.48448772G>T | CA392341655 | FBN1 | c.5667C>A (p.Cys1889Ter) n.4341C>A c.666C>A (p.Cys222Ter) c.*1430C>A (n.*1430C>A) c.974C>A | |
| 15 | g.48448773C>A | CA392341657 | FBN1 | c.5666G>T (p.Cys1889Phe) n.4340G>T c.665G>T (p.Cys222Phe) c.*1429G>T (n.*1429G>T) c.973G>T | ClinVar dbSNP COSMIC |
| 15 | g.48448773C= | CA2175498149 | FBN1 | c.5666G= (p.Cys1889=) n.4340G= c.665G= (p.Cys222=) c.*1429G= (n.*1429G=) c.973G= | |
| 15 | g.48448773C>G | CA392341659 | FBN1 | c.5666G>C (p.Cys1889Ser) n.4340G>C c.665G>C (p.Cys222Ser) c.*1429G>C (n.*1429G>C) c.973G>C | |
| 15 | g.48448773C>T | CA392341661 | FBN1 | c.5666G>A (p.Cys1889Tyr) n.4340G>A c.665G>A (p.Cys222Tyr) c.*1429G>A (n.*1429G>A) c.973G>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.48448774A>C | CA392341664 | FBN1 | c.5665T>G (p.Cys1889Gly) n.4339T>G c.664T>G (p.Cys222Gly) c.*1428T>G (n.*1428T>G) c.972T>G | |
| 15 | g.48448774A>G | CA392341666 | FBN1 | c.5665T>C (p.Cys1889Arg) n.4339T>C c.664T>C (p.Cys222Arg) c.*1428T>C (n.*1428T>C) c.972T>C | ClinVar |
| 15 | g.48448774A>T | CA392341669 | FBN1 | c.5665T>A (p.Cys1889Ser) n.4339T>A c.664T>A (p.Cys222Ser) c.*1428T>A (n.*1428T>A) c.972T>A | |
| 15 | g.48448774_48448777dup | CA2695220280 | FBN1 | c.5662_5665dup (p.Cys1889TyrfsTer7) n.4336_4339dup c.661_664dup (p.Cys222TyrfsTer7) c.*1425_*1428dup (n.*1425_*1428dup) c.969_972dup | |
| 15 | g.48448774_48448782delinsGC | CA2580089535 | FBN1 | c.5657_5665delinsGC (p.Gln1886ArgfsTer5) n.4331_4339delinsGC c.656_664delinsGC (p.Gln219ArgfsTer5) c.*1420_*1428delinsGC (n.*1420_*1428delinsGC) c.964_972delinsGC | ClinVar |
| 15 | g.48448775C>A | CA392341672 | FBN1 | c.5664G>T (p.Met1888Ile) n.4338G>T c.663G>T (p.Met221Ile) c.*1427G>T (n.*1427G>T) c.971G>T | |
| 15 | g.48448775C= | CA2175498160 | FBN1 | c.5664G= (p.Met1888=) n.4338G= c.663G= (p.Met221=) c.*1427G= (n.*1427G=) c.971G= | |
| 15 | g.48448775C>G | CA392341674 | FBN1 | c.5664G>C (p.Met1888Ile) n.4338G>C c.663G>C (p.Met221Ile) c.*1427G>C (n.*1427G>C) c.971G>C | |
| 15 | g.48448775C>T | CA16614639 | FBN1 | c.5664G>A (p.Met1888Ile) n.4338G>A c.663G>A (p.Met221Ile) c.*1427G>A (n.*1427G>A) c.971G>A | ClinVar dbSNP |
| 15 | g.48448775_48448776delinsCA | CA2175498170 | FBN1 | c.5663_5664delinsTG (p.Met1888=) n.4337_4338delinsTG c.662_663delinsTG (p.Met221=) c.*1426_*1427delinsTG (n.*1426_*1427delinsTG) c.970_971delinsTG | |
| 15 | g.48448776del | CA658683893 | FBN1 | c.5663del (p.Met1888SerfsTer5) n.4337del c.662del (p.Met221SerfsTer5) c.*1426del (n.*1426del) c.970del | ClinVar dbSNP |
| 15 | g.48448776A>C | CA392341677 | FBN1 | c.5663T>G (p.Met1888Arg) n.4337T>G c.662T>G (p.Met221Arg) c.*1426T>G (n.*1426T>G) c.970T>G | |
| 15 | g.48448776A>G | CA392341680 | FBN1 | c.5663T>C (p.Met1888Thr) n.4337T>C c.662T>C (p.Met221Thr) c.*1426T>C (n.*1426T>C) c.970T>C | |
| 15 | g.48448776A>T | CA392341682 | FBN1 | c.5663T>A (p.Met1888Lys) n.4337T>A c.662T>A (p.Met221Lys) c.*1426T>A (n.*1426T>A) c.970T>A | |
| 15 | g.48448777T>A | CA055331 | FBN1 | c.5662A>T (p.Met1888Leu) n.4336A>T c.661A>T (p.Met221Leu) c.*1425A>T (n.*1425A>T) c.969A>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48448777T>C | CA392341685 | FBN1 | c.5662A>G (p.Met1888Val) n.4336A>G c.661A>G (p.Met221Val) c.*1425A>G (n.*1425A>G) c.969A>G | gnomAD v4 |
| 15 | g.48448777T>G | CA392341687 | FBN1 | c.5662A>C (p.Met1888Leu) n.4336A>C c.661A>C (p.Met221Leu) c.*1425A>C (n.*1425A>C) c.969A>C | |
| 15 | g.48448777T= | CA2175498180 | FBN1 | c.5662A= (p.Met1888=) n.4336A= c.661A= (p.Met221=) c.*1425A= (n.*1425A=) c.969A= | |
| 15 | g.48448778G>A | CA490023108 | FBN1 | c.5661C>T (p.Thr1887=) n.4335C>T c.660C>T (p.Thr220=) c.*1424C>T (n.*1424C>T) c.968C>T | |
| 15 | g.48448778G>C | CA490023110 | FBN1 | c.5661C>G (p.Thr1887=) n.4335C>G c.660C>G (p.Thr220=) c.*1424C>G (n.*1424C>G) c.968C>G | |
| 15 | g.48448778G>T | CA490023109 | FBN1 | c.5661C>A (p.Thr1887=) n.4335C>A c.660C>A (p.Thr220=) c.*1424C>A (n.*1424C>A) c.968C>A | gnomAD v4 |
| 15 | g.48448779G>A | CA392341691 | FBN1 | c.5660C>T (p.Thr1887Ile) n.4334C>T c.659C>T (p.Thr220Ile) c.*1423C>T (n.*1423C>T) c.967C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448779G>C | CA392341694 | FBN1 | c.5660C>G (p.Thr1887Ser) n.4334C>G c.659C>G (p.Thr220Ser) c.*1423C>G (n.*1423C>G) c.967C>G | |
| 15 | g.48448779G= | CA2175498186 | FBN1 | c.5660C= (p.Thr1887=) n.4334C= c.659C= (p.Thr220=) c.*1423C= (n.*1423C=) c.967C= | |
| 15 | g.48448779G>T | CA392341697 | FBN1 | c.5660C>A (p.Thr1887Asn) n.4334C>A c.659C>A (p.Thr220Asn) c.*1423C>A (n.*1423C>A) c.967C>A | |
| 15 | g.48448780T>A | CA392341700 | FBN1 | c.5659A>T (p.Thr1887Ser) n.4333A>T c.658A>T (p.Thr220Ser) c.*1422A>T (n.*1422A>T) c.966A>T | |
| 15 | g.48448780T>C | CA392341702 | FBN1 | c.5659A>G (p.Thr1887Ala) n.4333A>G c.658A>G (p.Thr220Ala) c.*1422A>G (n.*1422A>G) c.966A>G | |
| 15 | g.48448780T>G | CA392341704 | FBN1 | c.5659A>C (p.Thr1887Pro) n.4333A>C c.658A>C (p.Thr220Pro) c.*1422A>C (n.*1422A>C) c.966A>C | |
| 15 | g.48448781T>A | CA392341707 | FBN1 | c.5658A>T (p.Gln1886His) n.4332A>T c.657A>T (p.Gln219His) c.*1421A>T (n.*1421A>T) c.965A>T | |
| 15 | g.48448781T>C | CA490023113 | FBN1 | c.5658A>G (p.Gln1886=) n.4332A>G c.657A>G (p.Gln219=) c.*1421A>G (n.*1421A>G) c.965A>G | gnomAD v4 |
| 15 | g.48448781T>G | CA392341708 | FBN1 | c.5658A>C (p.Gln1886His) n.4332A>C c.657A>C (p.Gln219His) c.*1421A>C (n.*1421A>C) c.965A>C | |
| 15 | g.48448782T>A | CA392341710 | FBN1 | c.5657A>T (p.Gln1886Leu) n.4331A>T c.656A>T (p.Gln219Leu) c.*1420A>T (n.*1420A>T) c.964A>T | |
| 15 | g.48448782T>C | CA392341712 | FBN1 | c.5657A>G (p.Gln1886Arg) n.4331A>G c.656A>G (p.Gln219Arg) c.*1420A>G (n.*1420A>G) c.964A>G | |
| 15 | g.48448782T>G | CA392341714 | FBN1 | c.5657A>C (p.Gln1886Pro) n.4331A>C c.656A>C (p.Gln219Pro) c.*1420A>C (n.*1420A>C) c.964A>C | |
| 15 | g.48448783G>A | CA392341721 | FBN1 | c.5656C>T (p.Gln1886Ter) n.4330C>T c.655C>T (p.Gln219Ter) c.*1419C>T (n.*1419C>T) c.963C>T | ClinVar |
| 15 | g.48448783G>C | CA269534994 | FBN1 | c.5656C>G (p.Gln1886Glu) n.4330C>G c.655C>G (p.Gln219Glu) c.*1419C>G (n.*1419C>G) c.963C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448783G= | CA2175498207 | FBN1 | c.5656C= (p.Gln1886=) n.4330C= c.655C= (p.Gln219=) c.*1419C= (n.*1419C=) c.963C= | |
| 15 | g.48448783G>T | CA392341718 | FBN1 | c.5656C>A (p.Gln1886Lys) n.4330C>A c.655C>A (p.Gln219Lys) c.*1419C>A (n.*1419C>A) c.963C>A | gnomAD v4 |
| 15 | g.48448784G>A | CA490023114 | FBN1 | c.5655C>T (p.Asp1885=) n.4329C>T c.654C>T (p.Asp218=) c.*1418C>T (n.*1418C>T) c.962C>T | |
| 15 | g.48448784G>C | CA392341724 | FBN1 | c.5655C>G (p.Asp1885Glu) n.4329C>G c.654C>G (p.Asp218Glu) c.*1418C>G (n.*1418C>G) c.962C>G | ClinVar |
| 15 | g.48448784G>T | CA392341726 | FBN1 | c.5655C>A (p.Asp1885Glu) n.4329C>A c.654C>A (p.Asp218Glu) c.*1418C>A (n.*1418C>A) c.962C>A | |
| 15 | g.48448785T>A | CA392341727 | FBN1 | c.5654A>T (p.Asp1885Val) n.4328A>T c.653A>T (p.Asp218Val) c.*1417A>T (n.*1417A>T) c.961A>T | |
| 15 | g.48448785T>C | CA392341728 | FBN1 | c.5654A>G (p.Asp1885Gly) n.4328A>G c.653A>G (p.Asp218Gly) c.*1417A>G (n.*1417A>G) c.961A>G | |
| 15 | g.48448785T>G | CA392341729 | FBN1 | c.5654A>C (p.Asp1885Ala) n.4328A>C c.653A>C (p.Asp218Ala) c.*1417A>C (n.*1417A>C) c.961A>C | |
| 15 | g.48448786C>A | CA392341731 | FBN1 | c.5653G>T (p.Asp1885Tyr) n.4327G>T c.652G>T (p.Asp218Tyr) c.*1416G>T (n.*1416G>T) c.960G>T | gnomAD v4 |
| 15 | g.48448786C>G | CA392341733 | FBN1 | c.5653G>C (p.Asp1885His) n.4327G>C c.652G>C (p.Asp218His) c.*1416G>C (n.*1416G>C) c.960G>C | |
| 15 | g.48448786C>T | CA392341734 | FBN1 | c.5653G>A (p.Asp1885Asn) n.4327G>A c.652G>A (p.Asp218Asn) c.*1416G>A (n.*1416G>A) c.960G>A | |
| 15 | g.48448787A>C | CA392341735 | FBN1 | c.5652T>G (p.Asp1884Glu) n.4326T>G c.651T>G (p.Asp217Glu) c.*1415T>G (n.*1415T>G) c.959T>G | |
| 15 | g.48448787A>G | CA490023116 | FBN1 | c.5652T>C (p.Asp1884=) n.4326T>C c.651T>C (p.Asp217=) c.*1415T>C (n.*1415T>C) c.959T>C | |
| 15 | g.48448787A>T | CA392341737 | FBN1 | c.5652T>A (p.Asp1884Glu) n.4326T>A c.651T>A (p.Asp217Glu) c.*1415T>A (n.*1415T>A) c.959T>A | |
| 15 | g.48448788T>A | CA392341739 | FBN1 | c.5651A>T (p.Asp1884Val) n.4325A>T c.650A>T (p.Asp217Val) c.*1414A>T (n.*1414A>T) c.958A>T | ClinVar gnomAD v4 |
| 15 | g.48448788T>C | CA392341740 | FBN1 | c.5651A>G (p.Asp1884Gly) n.4325A>G c.650A>G (p.Asp217Gly) c.*1414A>G (n.*1414A>G) c.958A>G | |
| 15 | g.48448788T>G | CA392341741 | FBN1 | c.5651A>C (p.Asp1884Ala) n.4325A>C c.650A>C (p.Asp217Ala) c.*1414A>C (n.*1414A>C) c.958A>C | |
| 15 | g.48448789C>A | CA392341746 | FBN1 | c.5650G>T (p.Asp1884Tyr) n.4324G>T c.649G>T (p.Asp217Tyr) c.*1413G>T (n.*1413G>T) c.957G>T | |
| 15 | g.48448789C= | CA2175498212 | FBN1 | c.5650G= (p.Asp1884=) n.4324G= c.649G= (p.Asp217=) c.*1413G= (n.*1413G=) c.957G= | |
| 15 | g.48448789C>G | CA392341752 | FBN1 | c.5650G>C (p.Asp1884His) n.4324G>C c.649G>C (p.Asp217His) c.*1413G>C (n.*1413G>C) c.957G>C | |
| 15 | g.48448789C>T | CA392341750 | FBN1 | c.5650G>A (p.Asp1884Asn) n.4324G>A c.649G>A (p.Asp217Asn) c.*1413G>A (n.*1413G>A) c.957G>A | dbSNP |
| 15 | g.48448790A= | CA2175498218 | FBN1 | c.5649T= (p.Asn1883=) n.4323T= c.648T= (p.Asn216=) c.*1412T= (n.*1412T=) c.956T= | |
| 15 | g.48448790A>C | CA392341755 | FBN1 | c.5649T>G (p.Asn1883Lys) n.4323T>G c.648T>G (p.Asn216Lys) c.*1412T>G (n.*1412T>G) c.956T>G | |
| 15 | g.48448790A>G | CA490023117 | FBN1 | c.5649T>C (p.Asn1883=) n.4323T>C c.648T>C (p.Asn216=) c.*1412T>C (n.*1412T>C) c.956T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448790A>T | CA392341757 | FBN1 | c.5649T>A (p.Asn1883Lys) n.4323T>A c.648T>A (p.Asn216Lys) c.*1412T>A (n.*1412T>A) c.956T>A | |
| 15 | g.48448791T>A | CA392341759 | FBN1 | c.5648A>T (p.Asn1883Ile) n.4322A>T c.647A>T (p.Asn216Ile) c.*1411A>T (n.*1411A>T) c.955A>T | |
| 15 | g.48448791T>C | CA055324 | FBN1 | c.5648A>G (p.Asn1883Ser) n.4322A>G c.647A>G (p.Asn216Ser) c.*1411A>G (n.*1411A>G) c.955A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48448791T>G | CA392341762 | FBN1 | c.5648A>C (p.Asn1883Thr) n.4322A>C c.647A>C (p.Asn216Thr) c.*1411A>C (n.*1411A>C) c.955A>C | |
| 15 | g.48448791T= | CA2175498226 | FBN1 | c.5648A= (p.Asn1883=) n.4322A= c.647A= (p.Asn216=) c.*1411A= (n.*1411A=) c.955A= | |
| 15 | g.48448792T>A | CA392341764 | FBN1 | c.5647A>T (p.Asn1883Tyr) n.4321A>T c.646A>T (p.Asn216Tyr) c.*1410A>T (n.*1410A>T) c.954A>T | |
| 15 | g.48448792T>C | CA392341767 | FBN1 | c.5647A>G (p.Asn1883Asp) n.4321A>G c.646A>G (p.Asn216Asp) c.*1410A>G (n.*1410A>G) c.954A>G | |
| 15 | g.48448792T>G | CA392341768 | FBN1 | c.5647A>C (p.Asn1883His) n.4321A>C c.646A>C (p.Asn216His) c.*1410A>C (n.*1410A>C) c.954A>C | |
| 15 | g.48448793T>A | CA490023120 | FBN1 | c.5646A>T (p.Thr1882=) n.4320A>T c.645A>T (p.Thr215=) c.*1409A>T (n.*1409A>T) c.953A>T | |
| 15 | g.48448793T>C | CA490023119 | FBN1 | c.5646A>G (p.Thr1882=) n.4320A>G c.645A>G (p.Thr215=) c.*1409A>G (n.*1409A>G) c.953A>G | |
| 15 | g.48448793T>G | CA490023118 | FBN1 | c.5646A>C (p.Thr1882=) n.4320A>C c.645A>C (p.Thr215=) c.*1409A>C (n.*1409A>C) c.953A>C | |
| 15 | g.48448794G>A | CA269535006 | FBN1 | c.5645C>T (p.Thr1882Ile) n.4319C>T c.644C>T (p.Thr215Ile) c.*1408C>T (n.*1408C>T) c.952C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448794G>C | CA392341773 | FBN1 | c.5645C>G (p.Thr1882Arg) n.4319C>G c.644C>G (p.Thr215Arg) c.*1408C>G (n.*1408C>G) c.952C>G | |
| 15 | g.48448794G= | CA2175498228 | FBN1 | c.5645C= (p.Thr1882=) n.4319C= c.644C= (p.Thr215=) c.*1408C= (n.*1408C=) c.952C= | |
| 15 | g.48448794G>T | CA392341779 | FBN1 | c.5645C>A (p.Thr1882Lys) n.4319C>A c.644C>A (p.Thr215Lys) c.*1408C>A (n.*1408C>A) c.952C>A | |
| 15 | g.48448795T>A | CA392341783 | FBN1 | c.5644A>T (p.Thr1882Ser) n.4318A>T c.643A>T (p.Thr215Ser) c.*1407A>T (n.*1407A>T) c.951A>T | |
| 15 | g.48448795T>C | CA055315 | FBN1 | c.5644A>G (p.Thr1882Ala) n.4318A>G c.643A>G (p.Thr215Ala) c.*1407A>G (n.*1407A>G) c.951A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48448795T>G | CA392341781 | FBN1 | c.5644A>C (p.Thr1882Pro) n.4318A>C c.643A>C (p.Thr215Pro) c.*1407A>C (n.*1407A>C) c.951A>C | |
| 15 | g.48448795T= | CA2175498232 | FBN1 | c.5644A= (p.Thr1882=) n.4318A= c.643A= (p.Thr215=) c.*1407A= (n.*1407A=) c.951A= | |
| 15 | g.48448796T>A | CA392341785 | FBN1 | c.5643A>T (p.Lys1881Asn) n.4317A>T c.642A>T (p.Lys214Asn) c.*1406A>T (n.*1406A>T) c.950A>T | |
| 15 | g.48448796T>C | CA490023123 | FBN1 | c.5643A>G (p.Lys1881=) n.4317A>G c.642A>G (p.Lys214=) c.*1406A>G (n.*1406A>G) c.950A>G | |
| 15 | g.48448796T>G | CA392341786 | FBN1 | c.5643A>C (p.Lys1881Asn) n.4317A>C c.642A>C (p.Lys214Asn) c.*1406A>C (n.*1406A>C) c.950A>C | ClinVar dbSNP |
| 15 | g.48448796T= | CA2175498242 | FBN1 | c.5643A= (p.Lys1881=) n.4317A= c.642A= (p.Lys214=) c.*1406A= (n.*1406A=) c.950A= | |
| 15 | g.48448797T>A | CA392341787 | FBN1 | c.5642A>T (p.Lys1881Ile) n.4316A>T c.641A>T (p.Lys214Ile) c.*1405A>T (n.*1405A>T) c.949A>T | |
| 15 | g.48448797T>C | CA392341788 | FBN1 | c.5642A>G (p.Lys1881Arg) n.4316A>G c.641A>G (p.Lys214Arg) c.*1405A>G (n.*1405A>G) c.949A>G | |
| 15 | g.48448797T>G | CA392341791 | FBN1 | c.5642A>C (p.Lys1881Thr) n.4316A>C c.641A>C (p.Lys214Thr) c.*1405A>C (n.*1405A>C) c.949A>C | |
| 15 | g.48448798T>A | CA392341794 | FBN1 | c.5641A>T (p.Lys1881Ter) n.4315A>T c.640A>T (p.Lys214Ter) c.*1404A>T (n.*1404A>T) c.948A>T | |
| 15 | g.48448798T>C | CA392341796 | FBN1 | c.5641A>G (p.Lys1881Glu) n.4315A>G c.640A>G (p.Lys214Glu) c.*1404A>G (n.*1404A>G) c.948A>G | |
| 15 | g.48448798T>G | CA392341800 | FBN1 | c.5641A>C (p.Lys1881Gln) n.4315A>C c.640A>C (p.Lys214Gln) c.*1404A>C (n.*1404A>C) c.948A>C | |
| 15 | g.48448799A>C | CA392341803 | FBN1 | c.5640T>G (p.Phe1880Leu) n.4314T>G c.639T>G (p.Phe213Leu) c.*1403T>G (n.*1403T>G) c.947T>G | |
| 15 | g.48448799A>G | CA490023128 | FBN1 | c.5640T>C (p.Phe1880=) n.4314T>C c.639T>C (p.Phe213=) c.*1403T>C (n.*1403T>C) c.947T>C | |
| 15 | g.48448799A>T | CA392341805 | FBN1 | c.5640T>A (p.Phe1880Leu) n.4314T>A c.639T>A (p.Phe213Leu) c.*1403T>A (n.*1403T>A) c.947T>A | |
| 15 | g.48448800A= | CA2175498247 | FBN1 | c.5639T= (p.Phe1880=) n.4313T= c.638T= (p.Phe213=) c.*1402T= (n.*1402T=) c.946T= | |
| 15 | g.48448800A>C | CA392341808 | FBN1 | c.5639T>G (p.Phe1880Cys) n.4313T>G c.638T>G (p.Phe213Cys) c.*1402T>G (n.*1402T>G) c.946T>G | |
| 15 | g.48448800A>G | CA392341810 | FBN1 | c.5639T>C (p.Phe1880Ser) n.4313T>C c.638T>C (p.Phe213Ser) c.*1402T>C (n.*1402T>C) c.946T>C | ClinVar dbSNP |
| 15 | g.48448800A>T | CA392341812 | FBN1 | c.5639T>A (p.Phe1880Tyr) n.4313T>A c.638T>A (p.Phe213Tyr) c.*1402T>A (n.*1402T>A) c.946T>A | |
| 15 | g.48448801A= | CA2175498255 | FBN1 | c.5638T= (p.Phe1880=) n.4312T= c.637T= (p.Phe213=) c.*1401T= (n.*1401T=) c.945T= | |
| 15 | g.48448801A>C | CA392341818 | FBN1 | c.5638T>G (p.Phe1880Val) n.4312T>G c.637T>G (p.Phe213Val) c.*1401T>G (n.*1401T>G) c.945T>G | ClinVar dbSNP |
| 15 | g.48448801A>G | CA392341816 | FBN1 | c.5638T>C (p.Phe1880Leu) n.4312T>C c.637T>C (p.Phe213Leu) c.*1401T>C (n.*1401T>C) c.945T>C | |
| 15 | g.48448801A>T | CA392341814 | FBN1 | c.5638T>A (p.Phe1880Ile) n.4312T>A c.637T>A (p.Phe213Ile) c.*1401T>A (n.*1401T>A) c.945T>A | |
| 15 | g.48448802A= | CA2175498268 | FBN1 | c.5637T= (p.Gly1879=) n.4311T= c.636T= (p.Gly212=) c.*1400T= (n.*1400T=) c.944T= | |
| 15 | g.48448802A>C | CA490023134 | FBN1 | c.5637T>G (p.Gly1879=) n.4311T>G c.636T>G (p.Gly212=) c.*1400T>G (n.*1400T>G) c.944T>G | ClinVar dbSNP |
| 15 | g.48448802A>G | CA490023135 | FBN1 | c.5637T>C (p.Gly1879=) n.4311T>C c.636T>C (p.Gly212=) c.*1400T>C (n.*1400T>C) c.944T>C | gnomAD v4 |
| 15 | g.48448802A>T | CA490023137 | FBN1 | c.5637T>A (p.Gly1879=) n.4311T>A c.636T>A (p.Gly212=) c.*1400T>A (n.*1400T>A) c.944T>A | |
| 15 | g.48448802_48448804delinsACC | CA2175498261 | FBN1 | c.5635_5637delinsGGT (p.Gly1879=) n.4309_4311delinsGGT c.634_636delinsGGT (p.Gly212=) c.*1398_*1400delinsGGT (n.*1398_*1400delinsGGT) c.942_944delinsGGT | |
| 15 | g.48448803C>A | CA392341820 | FBN1 | c.5636G>T (p.Gly1879Val) n.4310G>T c.635G>T (p.Gly212Val) c.*1399G>T (n.*1399G>T) c.943G>T | |
| 15 | g.48448803C= | CA2175498281 | FBN1 | c.5636G= (p.Gly1879=) n.4310G= c.635G= (p.Gly212=) c.*1399G= (n.*1399G=) c.943G= | |
| 15 | g.48448803C>G | CA392341822 | FBN1 | c.5636G>C (p.Gly1879Ala) n.4310G>C c.635G>C (p.Gly212Ala) c.*1399G>C (n.*1399G>C) c.943G>C | |
| 15 | g.48448803C>T | CA392341824 | FBN1 | c.5636G>A (p.Gly1879Asp) n.4310G>A c.635G>A (p.Gly212Asp) c.*1399G>A (n.*1399G>A) c.943G>A | ClinVar dbSNP |
| 15 | g.48448803_48448804del | CA658824298 | FBN1 | c.5635_5636del (p.Gly1879PhefsTer2) n.4309_4310del c.634_635del (p.Gly212PhefsTer2) c.*1398_*1399del (n.*1398_*1399del) c.942_943del | ClinVar dbSNP |
| 15 | g.48448804C>A | CA392341828 | FBN1 | c.5635G>T (p.Gly1879Cys) n.4309G>T c.634G>T (p.Gly212Cys) c.*1398G>T (n.*1398G>T) c.942G>T | |
| 15 | g.48448804C= | CA2175498291 | FBN1 | c.5635G= (p.Gly1879=) n.4309G= c.634G= (p.Gly212=) c.*1398G= (n.*1398G=) c.942G= | |
| 15 | g.48448804C>G | CA392341831 | FBN1 | c.5635G>C (p.Gly1879Arg) n.4309G>C c.634G>C (p.Gly212Arg) c.*1398G>C (n.*1398G>C) c.942G>C | ClinVar dbSNP |
| 15 | g.48448804C>T | CA392341832 | FBN1 | c.5635G>A (p.Gly1879Ser) n.4309G>A c.634G>A (p.Gly212Ser) c.*1398G>A (n.*1398G>A) c.942G>A | |
| 15 | g.48448805A>C | CA490023143 | FBN1 | c.5634T>G (p.Thr1878=) n.4308T>G c.633T>G (p.Thr211=) c.*1397T>G (n.*1397T>G) c.941T>G | |
| 15 | g.48448805A>G | CA490023145 | FBN1 | c.5634T>C (p.Thr1878=) n.4308T>C c.633T>C (p.Thr211=) c.*1397T>C (n.*1397T>C) c.941T>C | |
| 15 | g.48448805A>T | CA490023147 | FBN1 | c.5634T>A (p.Thr1878=) n.4308T>A c.633T>A (p.Thr211=) c.*1397T>A (n.*1397T>A) c.941T>A | |
| 15 | g.48448806G>A | CA392341833 | FBN1 | c.5633C>T (p.Thr1878Ile) n.4307C>T c.632C>T (p.Thr211Ile) c.*1396C>T (n.*1396C>T) c.940C>T | dbSNP gnomAD v4 |
| 15 | g.48448806G>C | CA392341834 | FBN1 | c.5633C>G (p.Thr1878Ser) n.4307C>G c.632C>G (p.Thr211Ser) c.*1396C>G (n.*1396C>G) c.940C>G | gnomAD v4 |
| 15 | g.48448806G= | CA2175498295 | FBN1 | c.5633C= (p.Thr1878=) n.4307C= c.632C= (p.Thr211=) c.*1396C= (n.*1396C=) c.940C= | |
| 15 | g.48448806G>T | CA392341836 | FBN1 | c.5633C>A (p.Thr1878Asn) n.4307C>A c.632C>A (p.Thr211Asn) c.*1396C>A (n.*1396C>A) c.940C>A | |
| 15 | g.48448807T>A | CA392341838 | FBN1 | c.5632A>T (p.Thr1878Ser) n.4306A>T c.631A>T (p.Thr211Ser) c.*1395A>T (n.*1395A>T) c.939A>T | |
| 15 | g.48448807T>C | CA392341839 | FBN1 | c.5632A>G (p.Thr1878Ala) n.4306A>G c.631A>G (p.Thr211Ala) c.*1395A>G (n.*1395A>G) c.939A>G | |
| 15 | g.48448807T>G | CA392341842 | FBN1 | c.5632A>C (p.Thr1878Pro) n.4306A>C c.631A>C (p.Thr211Pro) c.*1395A>C (n.*1395A>C) c.939A>C | |
| 15 | g.48448808G>A | CA490023155 | FBN1 | c.5631C>T (p.His1877=) n.4305C>T c.630C>T (p.His210=) c.*1394C>T (n.*1394C>T) c.938C>T | |
| 15 | g.48448808G>C | CA392341844 | FBN1 | c.5631C>G (p.His1877Gln) n.4305C>G c.630C>G (p.His210Gln) c.*1394C>G (n.*1394C>G) c.938C>G | |
| 15 | g.48448808G>T | CA392341845 | FBN1 | c.5631C>A (p.His1877Gln) n.4305C>A c.630C>A (p.His210Gln) c.*1394C>A (n.*1394C>A) c.938C>A | |
| 15 | g.48448809T>A | CA392341850 | FBN1 | c.5630A>T (p.His1877Leu) n.4304A>T c.629A>T (p.His210Leu) c.*1393A>T (n.*1393A>T) c.937A>T | |
| 15 | g.48448809T>C | CA055309 | FBN1 | c.5630A>G (p.His1877Arg) n.4304A>G c.629A>G (p.His210Arg) c.*1393A>G (n.*1393A>G) c.937A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48448809T>G | CA392341848 | FBN1 | c.5630A>C (p.His1877Pro) n.4304A>C c.629A>C (p.His210Pro) c.*1393A>C (n.*1393A>C) c.937A>C | |
| 15 | g.48448809T= | CA2175498298 | FBN1 | c.5630A= (p.His1877=) n.4304A= c.629A= (p.His210=) c.*1393A= (n.*1393A=) c.937A= | |
| 15 | g.48448810G>A | CA055301 | FBN1 | c.5629C>T (p.His1877Tyr) n.4303C>T c.628C>T (p.His210Tyr) c.*1392C>T (n.*1392C>T) c.936C>T | dbSNP ExAC |
| 15 | g.48448810G>C | CA392341851 | FBN1 | c.5629C>G (p.His1877Asp) n.4303C>G c.628C>G (p.His210Asp) c.*1392C>G (n.*1392C>G) c.936C>G | |
| 15 | g.48448810G= | CA2175498308 | FBN1 | c.5629C= (p.His1877=) n.4303C= c.628C= (p.His210=) c.*1392C= (n.*1392C=) c.936C= | |
| 15 | g.48448810G>T | CA392341854 | FBN1 | c.5629C>A (p.His1877Asn) n.4303C>A c.628C>A (p.His210Asn) c.*1392C>A (n.*1392C>A) c.936C>A | |
| 15 | g.48448811G>A | CA490023162 | FBN1 | c.5628C>T (p.Cys1876=) n.4302C>T c.627C>T (p.Cys209=) c.*1391C>T (n.*1391C>T) c.935C>T | |
| 15 | g.48448811G>C | CA392341857 | FBN1 | c.5628C>G (p.Cys1876Trp) n.4302C>G c.627C>G (p.Cys209Trp) c.*1391C>G (n.*1391C>G) c.935C>G | ClinVar dbSNP |
| 15 | g.48448811G>T | CA392341861 | FBN1 | c.5628C>A (p.Cys1876Ter) n.4302C>A c.627C>A (p.Cys209Ter) c.*1391C>A (n.*1391C>A) c.935C>A | ClinVar |
| 15 | g.48448812del | CA2628347966 | FBN1 | c.5627del (p.Cys1876SerfsTer17) n.4301del c.626del (p.Cys209SerfsTer17) c.*1390del (n.*1390del) c.934del | gnomAD v4 |
| 15 | g.48448812C>A | CA392341873 | FBN1 | c.5627G>T (p.Cys1876Phe) n.4301G>T c.626G>T (p.Cys209Phe) c.*1390G>T (n.*1390G>T) c.934G>T | |
| 15 | g.48448812C= | CA2175498320 | FBN1 | c.5627G= (p.Cys1876=) n.4301G= c.626G= (p.Cys209=) c.*1390G= (n.*1390G=) c.934G= | |
| 15 | g.48448812C>G | CA392341871 | FBN1 | c.5627G>C (p.Cys1876Ser) n.4301G>C c.626G>C (p.Cys209Ser) c.*1390G>C (n.*1390G>C) c.934G>C | ClinVar dbSNP |
| 15 | g.48448812C>T | CA16614640 | FBN1 | c.5627G>A (p.Cys1876Tyr) n.4301G>A c.626G>A (p.Cys209Tyr) c.*1390G>A (n.*1390G>A) c.934G>A | ClinVar dbSNP |
| 15 | g.48448813A= | CA2175498330 | FBN1 | c.5626T= (p.Cys1876=) n.4300T= c.625T= (p.Cys209=) c.*1389T= (n.*1389T=) c.933T= | |
| 15 | g.48448813A>C | CA392341875 | FBN1 | c.5626T>G (p.Cys1876Gly) n.4300T>G c.625T>G (p.Cys209Gly) c.*1389T>G (n.*1389T>G) c.933T>G | |
| 15 | g.48448813A>G | CA392341877 | FBN1 | c.5626T>C (p.Cys1876Arg) n.4300T>C c.625T>C (p.Cys209Arg) c.*1389T>C (n.*1389T>C) c.933T>C | ClinVar dbSNP |
| 15 | g.48448813A>T | CA392341879 | FBN1 | c.5626T>A (p.Cys1876Ser) n.4300T>A c.625T>A (p.Cys209Ser) c.*1389T>A (n.*1389T>A) c.933T>A | |
| 15 | g.48448814A>C | CA490023170 | FBN1 | c.5625T>G (p.Leu1875=) n.4299T>G c.624T>G (p.Leu208=) c.*1388T>G (n.*1388T>G) c.932T>G | |
| 15 | g.48448814A>G | CA490023172 | FBN1 | c.5625T>C (p.Leu1875=) n.4299T>C c.624T>C (p.Leu208=) c.*1388T>C (n.*1388T>C) c.932T>C | |
| 15 | g.48448814A>T | CA490023174 | FBN1 | c.5625T>A (p.Leu1875=) n.4299T>A c.624T>A (p.Leu208=) c.*1388T>A (n.*1388T>A) c.932T>A | |
| 15 | g.48448815A>C | CA392341882 | FBN1 | c.5624T>G (p.Leu1875Arg) n.4298T>G c.623T>G (p.Leu208Arg) c.*1387T>G (n.*1387T>G) c.931T>G | |
| 15 | g.48448815A>G | CA392341884 | FBN1 | c.5624T>C (p.Leu1875Pro) n.4298T>C c.623T>C (p.Leu208Pro) c.*1387T>C (n.*1387T>C) c.931T>C | |
| 15 | g.48448815A>T | CA392341886 | FBN1 | c.5624T>A (p.Leu1875His) n.4298T>A c.623T>A (p.Leu208His) c.*1387T>A (n.*1387T>A) c.931T>A | dbSNP |
| 15 | g.48448816G>A | CA269535012 | FBN1 | c.5623C>T (p.Leu1875Phe) n.4297C>T c.622C>T (p.Leu208Phe) c.*1386C>T (n.*1386C>T) c.930C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448816G>C | CA392341892 | FBN1 | c.5623C>G (p.Leu1875Val) n.4297C>G c.622C>G (p.Leu208Val) c.*1386C>G (n.*1386C>G) c.930C>G | |
| 15 | g.48448816G= | CA2175498334 | FBN1 | c.5623C= (p.Leu1875=) n.4297C= c.622C= (p.Leu208=) c.*1386C= (n.*1386C=) c.930C= | |
| 15 | g.48448816G>T | CA392341890 | FBN1 | c.5623C>A (p.Leu1875Ile) n.4297C>A c.622C>A (p.Leu208Ile) c.*1386C>A (n.*1386C>A) c.930C>A | |
| 15 | g.48448817G>A | CA490023181 | FBN1 | c.5622C>T (p.Cys1874=) n.4296C>T c.621C>T (p.Cys207=) c.*1385C>T (n.*1385C>T) c.929C>T | |
| 15 | g.48448817G>C | CA392341894 | FBN1 | c.5622C>G (p.Cys1874Trp) n.4296C>G c.621C>G (p.Cys207Trp) c.*1385C>G (n.*1385C>G) c.929C>G | |
| 15 | g.48448817G>T | CA392341896 | FBN1 | c.5622C>A (p.Cys1874Ter) n.4296C>A c.621C>A (p.Cys207Ter) c.*1385C>A (n.*1385C>A) c.929C>A | |
| 15 | g.48448818C>A | CA392341898 | FBN1 | c.5621G>T (p.Cys1874Phe) n.4295G>T c.620G>T (p.Cys207Phe) c.*1384G>T (n.*1384G>T) c.928G>T | ClinVar dbSNP |
| 15 | g.48448818C>G | CA392341899 | FBN1 | c.5621G>C (p.Cys1874Ser) n.4295G>C c.620G>C (p.Cys207Ser) c.*1384G>C (n.*1384G>C) c.928G>C | |
| 15 | g.48448818C>T | CA392341900 | FBN1 | c.5621G>A (p.Cys1874Tyr) n.4295G>A c.620G>A (p.Cys207Tyr) c.*1384G>A (n.*1384G>A) c.928G>A | |
| 15 | g.48448819A>C | CA392341901 | FBN1 | c.5620T>G (p.Cys1874Gly) n.4294T>G c.619T>G (p.Cys207Gly) c.*1383T>G (n.*1383T>G) c.927T>G | |
| 15 | g.48448819A>G | CA392341903 | FBN1 | c.5620T>C (p.Cys1874Arg) n.4294T>C c.619T>C (p.Cys207Arg) c.*1383T>C (n.*1383T>C) c.927T>C | |
| 15 | g.48448819A>T | CA392341905 | FBN1 | c.5620T>A (p.Cys1874Ser) n.4294T>A c.619T>A (p.Cys207Ser) c.*1383T>A (n.*1383T>A) c.927T>A | |
| 15 | g.48448820A= | CA2175498338 | FBN1 | c.5619T= (p.Tyr1873=) n.4293T= c.618T= (p.Tyr206=) c.*1382T= (n.*1382T=) c.926T= | |
| 15 | g.48448820A>C | CA10587815 | FBN1 | c.5619T>G (p.Tyr1873Ter) n.4293T>G c.618T>G (p.Tyr206Ter) c.*1382T>G (n.*1382T>G) c.926T>G | ClinVar dbSNP |
| 15 | g.48448820A>G | CA490023189 | FBN1 | c.5619T>C (p.Tyr1873=) n.4293T>C c.618T>C (p.Tyr206=) c.*1382T>C (n.*1382T>C) c.926T>C | ClinVar |
| 15 | g.48448820A>T | CA392341909 | FBN1 | c.5619T>A (p.Tyr1873Ter) n.4293T>A c.618T>A (p.Tyr206Ter) c.*1382T>A (n.*1382T>A) c.926T>A | |
| 15 | g.48448821T>A | CA392341923 | FBN1 | c.5618A>T (p.Tyr1873Phe) n.4292A>T c.617A>T (p.Tyr206Phe) c.*1381A>T (n.*1381A>T) c.925A>T | |
| 15 | g.48448821T>C | CA392341930 | FBN1 | c.5618A>G (p.Tyr1873Cys) n.4292A>G c.617A>G (p.Tyr206Cys) c.*1381A>G (n.*1381A>G) c.925A>G | |
| 15 | g.48448821T>G | CA392341926 | FBN1 | c.5618A>C (p.Tyr1873Ser) n.4292A>C c.617A>C (p.Tyr206Ser) c.*1381A>C (n.*1381A>C) c.925A>C | |
| 15 | g.48448822A>C | CA392341935 | FBN1 | c.5617T>G (p.Tyr1873Asp) n.4291T>G c.616T>G (p.Tyr206Asp) c.*1380T>G (n.*1380T>G) c.924T>G | |
| 15 | g.48448822A>G | CA392341937 | FBN1 | c.5617T>C (p.Tyr1873His) n.4291T>C c.616T>C (p.Tyr206His) c.*1380T>C (n.*1380T>C) c.924T>C | COSMIC |
| 15 | g.48448822A>T | CA392341940 | FBN1 | c.5617T>A (p.Tyr1873Asn) n.4291T>A c.616T>A (p.Tyr206Asn) c.*1380T>A (n.*1380T>A) c.924T>A | |
| 15 | g.48448823A= | CA2175498343 | FBN1 | c.5616T= (p.Phe1872=) n.4290T= c.615T= (p.Phe205=) c.*1379T= (n.*1379T=) c.923T= | |
| 15 | g.48448823A>C | CA392341944 | FBN1 | c.5616T>G (p.Phe1872Leu) n.4290T>G c.615T>G (p.Phe205Leu) c.*1379T>G (n.*1379T>G) c.923T>G | |
| 15 | g.48448823A>G | CA490023200 | FBN1 | c.5616T>C (p.Phe1872=) n.4290T>C c.615T>C (p.Phe205=) c.*1379T>C (n.*1379T>C) c.923T>C | dbSNP |
| 15 | g.48448823A>T | CA392341946 | FBN1 | c.5616T>A (p.Phe1872Leu) n.4290T>A c.615T>A (p.Phe205Leu) c.*1379T>A (n.*1379T>A) c.923T>A | |
| 15 | g.48448824A>C | CA392341950 | FBN1 | c.5615T>G (p.Phe1872Cys) n.4289T>G c.614T>G (p.Phe205Cys) c.*1378T>G (n.*1378T>G) c.922T>G | |
| 15 | g.48448824A>G | CA392341953 | FBN1 | c.5615T>C (p.Phe1872Ser) n.4289T>C c.614T>C (p.Phe205Ser) c.*1378T>C (n.*1378T>C) c.922T>C | ClinVar |
| 15 | g.48448824A>T | CA392341959 | FBN1 | c.5615T>A (p.Phe1872Tyr) n.4289T>A c.614T>A (p.Phe205Tyr) c.*1378T>A (n.*1378T>A) c.922T>A | |
| 15 | g.48448825A>C | CA392341964 | FBN1 | c.5614T>G (p.Phe1872Val) n.4288T>G c.613T>G (p.Phe205Val) c.*1377T>G (n.*1377T>G) c.921T>G | |
| 15 | g.48448825A>G | CA392341968 | FBN1 | c.5614T>C (p.Phe1872Leu) n.4288T>C c.613T>C (p.Phe205Leu) c.*1377T>C (n.*1377T>C) c.921T>C | |
| 15 | g.48448825A>T | CA392341966 | FBN1 | c.5614T>A (p.Phe1872Ile) n.4288T>A c.613T>A (p.Phe205Ile) c.*1377T>A (n.*1377T>A) c.921T>A | |
| 15 | g.48448825_48448826delinsAG | CA2175498348 | FBN1 | c.5613_5614delinsCT (p.Ser1871=) n.4287_4288delinsCT c.612_613delinsCT (p.Ser204=) c.*1376_*1377delinsCT (n.*1376_*1377delinsCT) c.920_921delinsCT | |
| 15 | g.48448825_48448827delinsAGC | CA2175498349 | FBN1 | c.5612_5614delinsGCT (p.Ser1871=) n.4286_4288delinsGCT c.611_613delinsGCT (p.Ser204=) c.*1375_*1377delinsGCT (n.*1375_*1377delinsGCT) c.919_921delinsGCT | |
| 15 | g.48448826del | CA891844491 | FBN1 | c.5613del (p.Tyr1873IlefsTer20) n.4287del c.612del (p.Tyr206IlefsTer20) c.*1376del (n.*1376del) c.920del | ClinVar dbSNP |
| 15 | g.48448826G>A | CA490023208 | FBN1 | c.5613C>T (p.Ser1871=) n.4287C>T c.612C>T (p.Ser204=) c.*1376C>T (n.*1376C>T) c.920C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448826G>C | CA392341970 | FBN1 | c.5613C>G (p.Ser1871Arg) n.4287C>G c.612C>G (p.Ser204Arg) c.*1376C>G (n.*1376C>G) c.920C>G | |
| 15 | g.48448826G= | CA2175498367 | FBN1 | c.5613C= (p.Ser1871=) n.4287C= c.612C= (p.Ser204=) c.*1376C= (n.*1376C=) c.920C= | |
| 15 | g.48448826G>T | CA055296 | FBN1 | c.5613C>A (p.Ser1871Arg) n.4287C>A c.612C>A (p.Ser204Arg) c.*1376C>A (n.*1376C>A) c.920C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448826_48448827del | CA658824299 | FBN1 | c.5612_5613del (p.Ser1871IlefsTer10) n.4286_4287del c.611_612del (p.Ser204IlefsTer10) c.*1375_*1376del (n.*1375_*1376del) c.919_920del | ClinVar dbSNP |
| 15 | g.48448827C>A | CA392341977 | FBN1 | c.5612G>T (p.Ser1871Ile) n.4286G>T c.611G>T (p.Ser204Ile) c.*1375G>T (n.*1375G>T) c.919G>T | |
| 15 | g.48448827C= | CA2175498371 | FBN1 | c.5612G= (p.Ser1871=) n.4286G= c.611G= (p.Ser204=) c.*1375G= (n.*1375G=) c.919G= | |
| 15 | g.48448827C>G | CA392341980 | FBN1 | c.5612G>C (p.Ser1871Thr) n.4286G>C c.611G>C (p.Ser204Thr) c.*1375G>C (n.*1375G>C) c.919G>C | |
| 15 | g.48448827C>T | CA055291 | FBN1 | c.5612G>A (p.Ser1871Asn) n.4286G>A c.611G>A (p.Ser204Asn) c.*1375G>A (n.*1375G>A) c.919G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48448828T>A | CA392341987 | FBN1 | c.5611A>T (p.Ser1871Cys) n.4285A>T c.610A>T (p.Ser204Cys) c.*1374A>T (n.*1374A>T) c.918A>T | |
| 15 | g.48448828T>C | CA392341992 | FBN1 | c.5611A>G (p.Ser1871Gly) n.4285A>G c.610A>G (p.Ser204Gly) c.*1374A>G (n.*1374A>G) c.918A>G | |
| 15 | g.48448828T>G | CA392341989 | FBN1 | c.5611A>C (p.Ser1871Arg) n.4285A>C c.610A>C (p.Ser204Arg) c.*1374A>C (n.*1374A>C) c.918A>C | ClinVar dbSNP |
| 15 | g.48448829T>A | CA490023217 | FBN1 | c.5610A>T (p.Gly1870=) n.4284A>T c.609A>T (p.Gly203=) c.*1373A>T (n.*1373A>T) c.917A>T | |
| 15 | g.48448829T>C | CA490023220 | FBN1 | c.5610A>G (p.Gly1870=) n.4284A>G c.609A>G (p.Gly203=) c.*1373A>G (n.*1373A>G) c.917A>G | |
| 15 | g.48448829T>G | CA490023219 | FBN1 | c.5610A>C (p.Gly1870=) n.4284A>C c.609A>C (p.Gly203=) c.*1373A>C (n.*1373A>C) c.917A>C | |
| 15 | g.48448830C>A | CA392341995 | FBN1 | c.5609G>T (p.Gly1870Val) n.4283G>T c.608G>T (p.Gly203Val) c.*1372G>T (n.*1372G>T) c.916G>T | |
| 15 | g.48448830C>G | CA392341996 | FBN1 | c.5609G>C (p.Gly1870Ala) n.4283G>C c.608G>C (p.Gly203Ala) c.*1372G>C (n.*1372G>C) c.916G>C | |
| 15 | g.48448830C>T | CA392342000 | FBN1 | c.5609G>A (p.Gly1870Glu) n.4283G>A c.608G>A (p.Gly203Glu) c.*1372G>A (n.*1372G>A) c.916G>A | COSMIC |
| 15 | g.48448831C>A | CA392342005 | FBN1 | c.5608G>T (p.Gly1870Ter) n.4282G>T c.607G>T (p.Gly203Ter) c.*1371G>T (n.*1371G>T) c.915G>T | |
| 15 | g.48448831C>G | CA392342008 | FBN1 | c.5608G>C (p.Gly1870Arg) n.4282G>C c.607G>C (p.Gly203Arg) c.*1371G>C (n.*1371G>C) c.915G>C | |
| 15 | g.48448831C>T | CA392342010 | FBN1 | c.5608G>A (p.Gly1870Arg) n.4282G>A c.607G>A (p.Gly203Arg) c.*1371G>A (n.*1371G>A) c.915G>A | |
| 15 | g.48448832A= | CA2175498375 | FBN1 | c.5607T= (p.Val1869=) n.4281T= c.606T= (p.Val202=) c.*1370T= (n.*1370T=) c.914T= | |
| 15 | g.48448832A>C | CA490023228 | FBN1 | c.5607T>G (p.Val1869=) n.4281T>G c.606T>G (p.Val202=) c.*1370T>G (n.*1370T>G) c.914T>G | |
| 15 | g.48448832A>G | CA490023229 | FBN1 | c.5607T>C (p.Val1869=) n.4281T>C c.606T>C (p.Val202=) c.*1370T>C (n.*1370T>C) c.914T>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.48448832A>T | CA490023230 | FBN1 | c.5607T>A (p.Val1869=) n.4281T>A c.606T>A (p.Val202=) c.*1370T>A (n.*1370T>A) c.914T>A | |
| 15 | g.48448833dup | CA2580089552 | FBN1 | c.5607dup (p.Gly1870TrpfsTer12) n.4281dup c.606dup (p.Gly203TrpfsTer12) c.*1370dup (n.*1370dup) c.914dup | ClinVar |
| 15 | g.48448833A>C | CA392342013 | FBN1 | c.5606T>G (p.Val1869Gly) n.4280T>G c.605T>G (p.Val202Gly) c.*1369T>G (n.*1369T>G) c.913T>G | |
| 15 | g.48448833A>G | CA392342015 | FBN1 | c.5606T>C (p.Val1869Ala) n.4280T>C c.605T>C (p.Val202Ala) c.*1369T>C (n.*1369T>C) c.913T>C | |
| 15 | g.48448833A>T | CA392342019 | FBN1 | c.5606T>A (p.Val1869Asp) n.4280T>A c.605T>A (p.Val202Asp) c.*1369T>A (n.*1369T>A) c.913T>A | |
| 15 | g.48448834C>A | CA392342021 | FBN1 | c.5605G>T (p.Val1869Phe) n.4279G>T c.604G>T (p.Val202Phe) c.*1368G>T (n.*1368G>T) c.912G>T | COSMIC |
| 15 | g.48448834C>G | CA392342023 | FBN1 | c.5605G>C (p.Val1869Leu) n.4279G>C c.604G>C (p.Val202Leu) c.*1368G>C (n.*1368G>C) c.912G>C | |
| 15 | g.48448834C>T | CA392342030 | FBN1 | c.5605G>A (p.Val1869Ile) n.4279G>A c.604G>A (p.Val202Ile) c.*1368G>A (n.*1368G>A) c.912G>A | |
| 15 | g.48448835T>A | CA490023238 | FBN1 | c.5604A>T (p.Thr1868=) n.4278A>T c.603A>T (p.Thr201=) c.*1367A>T (n.*1367A>T) c.911A>T | |
| 15 | g.48448835T>C | CA490023239 | FBN1 | c.5604A>G (p.Thr1868=) n.4278A>G c.603A>G (p.Thr201=) c.*1367A>G (n.*1367A>G) c.911A>G | ClinVar |
| 15 | g.48448835T>G | CA490023242 | FBN1 | c.5604A>C (p.Thr1868=) n.4278A>C c.603A>C (p.Thr201=) c.*1367A>C (n.*1367A>C) c.911A>C | gnomAD v4 |
| 15 | g.48448836G>A | CA055286 | FBN1 | c.5603C>T (p.Thr1868Ile) n.4277C>T c.602C>T (p.Thr201Ile) c.*1366C>T (n.*1366C>T) c.910C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448836G>C | CA269535028 | FBN1 | c.5603C>G (p.Thr1868Arg) n.4277C>G c.602C>G (p.Thr201Arg) c.*1366C>G (n.*1366C>G) c.910C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48448836G= | CA2175498384 | FBN1 | c.5603C= (p.Thr1868=) n.4277C= c.602C= (p.Thr201=) c.*1366C= (n.*1366C=) c.910C= | |
| 15 | g.48448836G>T | CA392342034 | FBN1 | c.5603C>A (p.Thr1868Lys) n.4277C>A c.602C>A (p.Thr201Lys) c.*1366C>A (n.*1366C>A) c.910C>A | COSMIC |
| 15 | g.48448837T>A | CA392342039 | FBN1 | c.5602A>T (p.Thr1868Ser) n.4276A>T c.601A>T (p.Thr201Ser) c.*1365A>T (n.*1365A>T) c.909A>T | |
| 15 | g.48448837T>C | CA392342041 | FBN1 | c.5602A>G (p.Thr1868Ala) n.4276A>G c.601A>G (p.Thr201Ala) c.*1365A>G (n.*1365A>G) c.909A>G | gnomAD v4 |
| 15 | g.48448837T>G | CA392342044 | FBN1 | c.5602A>C (p.Thr1868Pro) n.4276A>C c.601A>C (p.Thr201Pro) c.*1365A>C (n.*1365A>C) c.909A>C | |
| 15 | g.48448838G>A | CA490023248 | FBN1 | c.5601C>T (p.Asp1867=) n.4275C>T c.600C>T (p.Asp200=) c.*1364C>T (n.*1364C>T) c.908C>T | |
| 15 | g.48448838G>C | CA392342047 | FBN1 | c.5601C>G (p.Asp1867Glu) n.4275C>G c.600C>G (p.Asp200Glu) c.*1364C>G (n.*1364C>G) c.908C>G | |
| 15 | g.48448838G>T | CA392342050 | FBN1 | c.5601C>A (p.Asp1867Glu) n.4275C>A c.600C>A (p.Asp200Glu) c.*1364C>A (n.*1364C>A) c.908C>A | |
| 15 | g.48448839T>A | CA392342054 | FBN1 | c.5600A>T (p.Asp1867Val) n.4274A>T c.599A>T (p.Asp200Val) c.*1363A>T (n.*1363A>T) c.907A>T | |
| 15 | g.48448839T>C | CA392342056 | FBN1 | c.5600A>G (p.Asp1867Gly) n.4274A>G c.599A>G (p.Asp200Gly) c.*1363A>G (n.*1363A>G) c.907A>G | |
| 15 | g.48448839T>G | CA392342058 | FBN1 | c.5600A>C (p.Asp1867Ala) n.4274A>C c.599A>C (p.Asp200Ala) c.*1363A>C (n.*1363A>C) c.907A>C | |
| 15 | g.48448840C>A | CA392342061 | FBN1 | c.5599G>T (p.Asp1867Tyr) n.4273G>T c.598G>T (p.Asp200Tyr) c.*1362G>T (n.*1362G>T) c.906G>T | |
| 15 | g.48448840C>G | CA392342065 | FBN1 | c.5599G>C (p.Asp1867His) n.4273G>C c.598G>C (p.Asp200His) c.*1362G>C (n.*1362G>C) c.906G>C | |
| 15 | g.48448840C>T | CA392342063 | FBN1 | c.5599G>A (p.Asp1867Asn) n.4273G>A c.598G>A (p.Asp200Asn) c.*1362G>A (n.*1362G>A) c.906G>A | COSMIC |
| 15 | g.48448841A>C | CA392342069 | FBN1 | c.5598T>G (p.Ile1866Met) n.4272T>G c.597T>G (p.Ile199Met) c.*1361T>G (n.*1361T>G) c.905T>G | |
| 15 | g.48448841A>G | CA490023253 | FBN1 | c.5598T>C (p.Ile1866=) n.4272T>C c.597T>C (p.Ile199=) c.*1361T>C (n.*1361T>C) c.905T>C | |
| 15 | g.48448841A>T | CA490023254 | FBN1 | c.5598T>A (p.Ile1866=) n.4272T>A c.597T>A (p.Ile199=) c.*1361T>A (n.*1361T>A) c.905T>A | |
| 15 | g.48448842A= | CA2175498393 | FBN1 | c.5597T= (p.Ile1866=) n.4271T= c.596T= (p.Ile199=) c.*1360T= (n.*1360T=) c.904T= | |
| 15 | g.48448842A>C | CA392342071 | FBN1 | c.5597T>G (p.Ile1866Ser) n.4271T>G c.596T>G (p.Ile199Ser) c.*1360T>G (n.*1360T>G) c.904T>G | |
| 15 | g.48448842A>G | CA055276 | FBN1 | c.5597T>C (p.Ile1866Thr) n.4271T>C c.596T>C (p.Ile199Thr) c.*1360T>C (n.*1360T>C) c.904T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48448842A>T | CA392342075 | FBN1 | c.5597T>A (p.Ile1866Asn) n.4271T>A c.596T>A (p.Ile199Asn) c.*1360T>A (n.*1360T>A) c.904T>A | |
| 15 | g.48448843T>A | CA392342078 | FBN1 | c.5596A>T (p.Ile1866Phe) n.4270A>T c.595A>T (p.Ile199Phe) c.*1359A>T (n.*1359A>T) c.903A>T | |
| 15 | g.48448843T>C | CA055270 | FBN1 | c.5596A>G (p.Ile1866Val) n.4270A>G c.595A>G (p.Ile199Val) c.*1359A>G (n.*1359A>G) c.903A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448843T>G | CA392342081 | FBN1 | c.5596A>C (p.Ile1866Leu) n.4270A>C c.595A>C (p.Ile199Leu) c.*1359A>C (n.*1359A>C) c.903A>C | gnomAD v4 |
| 15 | g.48448843T= | CA2175498400 | FBN1 | c.5596A= (p.Ile1866=) n.4270A= c.595A= (p.Ile199=) c.*1359A= (n.*1359A=) c.903A= | |
| 15 | g.48448844G>A | CA490023260 | FBN1 | c.5595C>T (p.Cys1865=) n.4269C>T c.594C>T (p.Cys198=) c.*1358C>T (n.*1358C>T) c.902C>T | |
| 15 | g.48448844G>C | CA392342082 | FBN1 | c.5595C>G (p.Cys1865Trp) n.4269C>G c.594C>G (p.Cys198Trp) c.*1358C>G (n.*1358C>G) c.902C>G | |
| 15 | g.48448844G= | CA2175498410 | FBN1 | c.5595C= (p.Cys1865=) n.4269C= c.594C= (p.Cys198=) c.*1358C= (n.*1358C=) c.902C= | |
| 15 | g.48448844G>T | CA16607089 | FBN1 | c.5595C>A (p.Cys1865Ter) n.4269C>A c.594C>A (p.Cys198Ter) c.*1358C>A (n.*1358C>A) c.902C>A | ClinVar dbSNP |
| 15 | g.48448845C>A | CA392342085 | FBN1 | c.5594G>T (p.Cys1865Phe) n.4268G>T c.593G>T (p.Cys198Phe) c.*1357G>T (n.*1357G>T) c.901G>T | |
| 15 | g.48448845C>G | CA392342088 | FBN1 | c.5594G>C (p.Cys1865Ser) n.4268G>C c.593G>C (p.Cys198Ser) c.*1357G>C (n.*1357G>C) c.901G>C | ClinVar dbSNP |
| 15 | g.48448845C>T | CA392342092 | FBN1 | c.5594G>A (p.Cys1865Tyr) n.4268G>A c.593G>A (p.Cys198Tyr) c.*1357G>A (n.*1357G>A) c.901G>A | |
| 15 | g.48448846_48448847dup | CA10605850 | FBN1 | c.5593_5594dup (p.Ile1866AlafsTer28) n.4267_4268dup c.592_593dup (p.Ile199AlafsTer28) c.*1356_*1357dup (n.*1356_*1357dup) c.900_901dup | ClinVar dbSNP |
| 15 | g.48448846A= | CA2175498434 | FBN1 | c.5593T= (p.Cys1865=) n.4267T= c.592T= (p.Cys198=) c.*1356T= (n.*1356T=) c.900T= | |
| 15 | g.48448846A>C | CA392342105 | FBN1 | c.5593T>G (p.Cys1865Gly) n.4267T>G c.592T>G (p.Cys198Gly) c.*1356T>G (n.*1356T>G) c.900T>G | |
| 15 | g.48448846A>G | CA392342113 | FBN1 | c.5593T>C (p.Cys1865Arg) n.4267T>C c.592T>C (p.Cys198Arg) c.*1356T>C (n.*1356T>C) c.900T>C | ClinVar dbSNP |
| 15 | g.48448846A>T | CA392342115 | FBN1 | c.5593T>A (p.Cys1865Ser) n.4267T>A c.592T>A (p.Cys198Ser) c.*1356T>A (n.*1356T>A) c.900T>A | |
| 15 | g.48448847del | CA2573332581 | FBN1 | c.5592del (p.Gln1864HisfsTer29) n.4266del c.591del (p.Gln197HisfsTer29) c.*1355del (n.*1355del) c.899del | |
| 15 | g.48448847C>A | CA392342120 | FBN1 | c.5592G>T (p.Gln1864His) n.4266G>T c.591G>T (p.Gln197His) c.*1355G>T (n.*1355G>T) c.899G>T | |
| 15 | g.48448847C>G | CA392342122 | FBN1 | c.5592G>C (p.Gln1864His) n.4266G>C c.591G>C (p.Gln197His) c.*1355G>C (n.*1355G>C) c.899G>C | |
| 15 | g.48448847C>T | CA490023268 | FBN1 | c.5592G>A (p.Gln1864=) n.4266G>A c.591G>A (p.Gln197=) c.*1355G>A (n.*1355G>A) c.899G>A | |
| 15 | g.48448848T>A | CA392342125 | FBN1 | c.5591A>T (p.Gln1864Leu) n.4265A>T c.590A>T (p.Gln197Leu) c.*1354A>T (n.*1354A>T) c.898A>T | |
| 15 | g.48448848T>C | CA392342132 | FBN1 | c.5591A>G (p.Gln1864Arg) n.4265A>G c.590A>G (p.Gln197Arg) c.*1354A>G (n.*1354A>G) c.898A>G | |
| 15 | g.48448848T>G | CA392342128 | FBN1 | c.5591A>C (p.Gln1864Pro) n.4265A>C c.590A>C (p.Gln197Pro) c.*1354A>C (n.*1354A>C) c.898A>C | |
| 15 | g.48448849G>A | CA392342138 | FBN1 | c.5590C>T (p.Gln1864Ter) n.4264C>T c.589C>T (p.Gln197Ter) c.*1353C>T (n.*1353C>T) c.897C>T | ClinVar dbSNP |
| 15 | g.48448849G>C | CA392342140 | FBN1 | c.5590C>G (p.Gln1864Glu) n.4264C>G c.589C>G (p.Gln197Glu) c.*1353C>G (n.*1353C>G) c.897C>G | |
| 15 | g.48448849G= | CA2175498442 | FBN1 | c.5590C= (p.Gln1864=) n.4264C= c.589C= (p.Gln197=) c.*1353C= (n.*1353C=) c.897C= | |
| 15 | g.48448849G>T | CA392342145 | FBN1 | c.5590C>A (p.Gln1864Lys) n.4264C>A c.589C>A (p.Gln197Lys) c.*1353C>A (n.*1353C>A) c.897C>A | |
| 15 | g.48448850C>A | CA490023275 | FBN1 | c.5589G>T (p.Gly1863=) n.4263G>T c.588G>T (p.Gly196=) c.*1352G>T (n.*1352G>T) c.896G>T | ClinVar |
| 15 | g.48448850C= | CA2175498450 | FBN1 | c.5589G= (p.Gly1863=) n.4263G= c.588G= (p.Gly196=) c.*1352G= (n.*1352G=) c.896G= | |
| 15 | g.48448850C>G | CA490023276 | FBN1 | c.5589G>C (p.Gly1863=) n.4263G>C c.588G>C (p.Gly196=) c.*1352G>C (n.*1352G>C) c.896G>C | gnomAD v4 |
| 15 | g.48448850C>T | CA490023278 | FBN1 | c.5589G>A (p.Gly1863=) n.4263G>A c.588G>A (p.Gly196=) c.*1352G>A (n.*1352G>A) c.896G>A | ClinVar dbSNP |
| 15 | g.48448851C>A | CA392342148 | FBN1 | c.5588G>T (p.Gly1863Val) n.4262G>T c.587G>T (p.Gly196Val) c.*1351G>T (n.*1351G>T) c.895G>T | |
| 15 | g.48448851C= | CA2175498458 | FBN1 | c.5588G= (p.Gly1863=) n.4262G= c.587G= (p.Gly196=) c.*1351G= (n.*1351G=) c.895G= | |
| 15 | g.48448851C>G | CA392342152 | FBN1 | c.5588G>C (p.Gly1863Ala) n.4262G>C c.587G>C (p.Gly196Ala) c.*1351G>C (n.*1351G>C) c.895G>C | |
| 15 | g.48448851C>T | CA015911 | FBN1 | c.5588G>A (p.Gly1863Glu) n.4262G>A c.587G>A (p.Gly196Glu) c.*1351G>A (n.*1351G>A) c.895G>A | ClinVar dbSNP |
| 15 | g.48448852C>A | CA392342176 | FBN1 | c.5587G>T (p.Gly1863Trp) n.4261G>T c.586G>T (p.Gly196Trp) c.*1350G>T (n.*1350G>T) c.894G>T | |
| 15 | g.48448852C= | CA2175498467 | FBN1 | c.5587G= (p.Gly1863=) n.4261G= c.586G= (p.Gly196=) c.*1350G= (n.*1350G=) c.894G= | |
| 15 | g.48448852C>G | CA392342165 | FBN1 | c.5587G>C (p.Gly1863Arg) n.4261G>C c.586G>C (p.Gly196Arg) c.*1350G>C (n.*1350G>C) c.894G>C | |
| 15 | g.48448852C>T | CA392342167 | FBN1 | c.5587G>A (p.Gly1863Arg) n.4261G>A c.586G>A (p.Gly196Arg) c.*1350G>A (n.*1350G>A) c.894G>A | ClinVar dbSNP |
| 15 | g.48448853A>C | CA392342180 | FBN1 | c.5586T>G (p.His1862Gln) n.4260T>G c.585T>G (p.His195Gln) c.*1349T>G (n.*1349T>G) c.893T>G | |
| 15 | g.48448853A>G | CA490023287 | FBN1 | c.5586T>C (p.His1862=) n.4260T>C c.585T>C (p.His195=) c.*1349T>C (n.*1349T>C) c.893T>C | ClinVar |
| 15 | g.48448853A>T | CA392342182 | FBN1 | c.5586T>A (p.His1862Gln) n.4260T>A c.585T>A (p.His195Gln) c.*1349T>A (n.*1349T>A) c.893T>A | |
| 15 | g.48448854T>A | CA392342186 | FBN1 | c.5585A>T (p.His1862Leu) n.4259A>T c.584A>T (p.His195Leu) c.*1348A>T (n.*1348A>T) c.892A>T | |
| 15 | g.48448854T>C | CA269535035 | FBN1 | c.5585A>G (p.His1862Arg) n.4259A>G c.584A>G (p.His195Arg) c.*1348A>G (n.*1348A>G) c.892A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448854T>G | CA392342192 | FBN1 | c.5585A>C (p.His1862Pro) n.4259A>C c.584A>C (p.His195Pro) c.*1348A>C (n.*1348A>C) c.892A>C | |
| 15 | g.48448854T= | CA2175498473 | FBN1 | c.5585A= (p.His1862=) n.4259A= c.584A= (p.His195=) c.*1348A= (n.*1348A=) c.892A= | |
| 15 | g.48448855G>A | CA392342203 | FBN1 | c.5584C>T (p.His1862Tyr) n.4258C>T c.583C>T (p.His195Tyr) c.*1347C>T (n.*1347C>T) c.891C>T | gnomAD v4 |
| 15 | g.48448855G>C | CA392342199 | FBN1 | c.5584C>G (p.His1862Asp) n.4258C>G c.583C>G (p.His195Asp) c.*1347C>G (n.*1347C>G) c.891C>G | |
| 15 | g.48448855G>T | CA392342202 | FBN1 | c.5584C>A (p.His1862Asn) n.4258C>A c.583C>A (p.His195Asn) c.*1347C>A (n.*1347C>A) c.891C>A | gnomAD v4 |
| 15 | g.48448856A>C | CA392342211 | FBN1 | c.5583T>G (p.Ser1861Arg) n.4257T>G c.582T>G (p.Ser194Arg) c.*1346T>G (n.*1346T>G) c.890T>G | |
| 15 | g.48448856A>G | CA490023298 | FBN1 | c.5583T>C (p.Ser1861=) n.4257T>C c.582T>C (p.Ser194=) c.*1346T>C (n.*1346T>C) c.890T>C | |
| 15 | g.48448856A>T | CA392342215 | FBN1 | c.5583T>A (p.Ser1861Arg) n.4257T>A c.582T>A (p.Ser194Arg) c.*1346T>A (n.*1346T>A) c.890T>A | gnomAD v4 |
| 15 | g.48448857C>A | CA392342219 | FBN1 | c.5582G>T (p.Ser1861Ile) n.4256G>T c.581G>T (p.Ser194Ile) c.*1345G>T (n.*1345G>T) c.889G>T | |
| 15 | g.48448857C= | CA2175498483 | FBN1 | c.5582G= (p.Ser1861=) n.4256G= c.581G= (p.Ser194=) c.*1345G= (n.*1345G=) c.889G= | |
| 15 | g.48448857C>G | CA392342224 | FBN1 | c.5582G>C (p.Ser1861Thr) n.4256G>C c.581G>C (p.Ser194Thr) c.*1345G>C (n.*1345G>C) c.889G>C | |
| 15 | g.48448857C>T | CA055263 | FBN1 | c.5582G>A (p.Ser1861Asn) n.4256G>A c.581G>A (p.Ser194Asn) c.*1345G>A (n.*1345G>A) c.889G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448857dup | CA2695220286 | FBN1 | c.5582dup (p.Ser1861ArgfsTer7) n.4256dup c.581dup (p.Ser194ArgfsTer7) c.*1345dup (n.*1345dup) c.889dup | |
| 15 | g.48448858T>A | CA392342232 | FBN1 | c.5581A>T (p.Ser1861Cys) n.4255A>T c.580A>T (p.Ser194Cys) c.*1344A>T (n.*1344A>T) c.888A>T | |
| 15 | g.48448858T>C | CA392342239 | FBN1 | c.5581A>G (p.Ser1861Gly) n.4255A>G c.580A>G (p.Ser194Gly) c.*1344A>G (n.*1344A>G) c.888A>G | gnomAD v4 |
| 15 | g.48448858T>G | CA392342244 | FBN1 | c.5581A>C (p.Ser1861Arg) n.4255A>C c.580A>C (p.Ser194Arg) c.*1344A>C (n.*1344A>C) c.888A>C | ClinVar dbSNP |
| 15 | g.48448858dup | CA2695220288 | FBN1 | c.5581dup (p.Ser1861LysfsTer7) n.4255dup c.580dup (p.Ser194LysfsTer7) c.*1344dup (n.*1344dup) c.888dup | |
| 15 | g.48448859G>A | CA490023309 | FBN1 | c.5580C>T (p.Cys1860=) n.4254C>T c.579C>T (p.Cys193=) c.*1343C>T (n.*1343C>T) c.887C>T | |
| 15 | g.48448859G>C | CA392342246 | FBN1 | c.5580C>G (p.Cys1860Trp) n.4254C>G c.579C>G (p.Cys193Trp) c.*1343C>G (n.*1343C>G) c.887C>G | |
| 15 | g.48448859G>T | CA392342250 | FBN1 | c.5580C>A (p.Cys1860Ter) n.4254C>A c.579C>A (p.Cys193Ter) c.*1343C>A (n.*1343C>A) c.887C>A | |
| 15 | g.48448860C>A | CA392342267 | FBN1 | c.5579G>T (p.Cys1860Phe) n.4253G>T c.578G>T (p.Cys193Phe) c.*1342G>T (n.*1342G>T) c.886G>T | gnomAD v4 |
| 15 | g.48448860C= | CA2175498492 | FBN1 | c.5579G= (p.Cys1860=) n.4253G= c.578G= (p.Cys193=) c.*1342G= (n.*1342G=) c.886G= | |
| 15 | g.48448860C>G | CA392342271 | FBN1 | c.5579G>C (p.Cys1860Ser) n.4253G>C c.578G>C (p.Cys193Ser) c.*1342G>C (n.*1342G>C) c.886G>C | |
| 15 | g.48448860C>T | CA392342277 | FBN1 | c.5579G>A (p.Cys1860Tyr) n.4253G>A c.578G>A (p.Cys193Tyr) c.*1342G>A (n.*1342G>A) c.886G>A | ClinVar dbSNP |
| 15 | g.48448861A>C | CA392342281 | FBN1 | c.5578T>G (p.Cys1860Gly) n.4252T>G c.577T>G (p.Cys193Gly) c.*1341T>G (n.*1341T>G) c.885T>G | |
| 15 | g.48448861A>G | CA392342288 | FBN1 | c.5578T>C (p.Cys1860Arg) n.4252T>C c.577T>C (p.Cys193Arg) c.*1341T>C (n.*1341T>C) c.885T>C | ClinVar |
| 15 | g.48448861A>T | CA392342284 | FBN1 | c.5578T>A (p.Cys1860Ser) n.4252T>A c.577T>A (p.Cys193Ser) c.*1341T>A (n.*1341T>A) c.885T>A | |
| 15 | g.48448862T>A | CA490023316 | FBN1 | c.5577A>T (p.Ile1859=) n.4251A>T c.576A>T (p.Ile192=) c.*1340A>T (n.*1340A>T) c.884A>T | |
| 15 | g.48448862T>C | CA392342294 | FBN1 | c.5577A>G (p.Ile1859Met) n.4251A>G c.576A>G (p.Ile192Met) c.*1340A>G (n.*1340A>G) c.884A>G | |
| 15 | g.48448862T>G | CA490023321 | FBN1 | c.5577A>C (p.Ile1859=) n.4251A>C c.576A>C (p.Ile192=) c.*1340A>C (n.*1340A>C) c.884A>C | |
| 15 | g.48448862dup | CA2580089560 | FBN1 | c.5577dup (p.Cys1860MetfsTer8) n.4251dup c.576dup (p.Cys193MetfsTer8) c.*1340dup (n.*1340dup) c.884dup | ClinVar |
| 15 | g.48448863A>C | CA392342298 | FBN1 | c.5576T>G (p.Ile1859Arg) n.4250T>G c.575T>G (p.Ile192Arg) c.*1339T>G (n.*1339T>G) c.883T>G | |
| 15 | g.48448863A>G | CA392342302 | FBN1 | c.5576T>C (p.Ile1859Thr) n.4250T>C c.575T>C (p.Ile192Thr) c.*1339T>C (n.*1339T>C) c.883T>C | ClinVar |
| 15 | g.48448863A>T | CA392342321 | FBN1 | c.5576T>A (p.Ile1859Lys) n.4250T>A c.575T>A (p.Ile192Lys) c.*1339T>A (n.*1339T>A) c.883T>A | |
| 15 | g.48448864T>A | CA392342324 | FBN1 | c.5575A>T (p.Ile1859Leu) n.4249A>T c.574A>T (p.Ile192Leu) c.*1338A>T (n.*1338A>T) c.882A>T | COSMIC |
| 15 | g.48448864T>C | CA392342331 | FBN1 | c.5575A>G (p.Ile1859Val) n.4249A>G c.574A>G (p.Ile192Val) c.*1338A>G (n.*1338A>G) c.882A>G | ClinVar gnomAD v4 |
| 15 | g.48448864T>G | CA392342335 | FBN1 | c.5575A>C (p.Ile1859Leu) n.4249A>C c.574A>C (p.Ile192Leu) c.*1338A>C (n.*1338A>C) c.882A>C | |
| 15 | g.48448865A>C | CA392342342 | FBN1 | c.5574T>G (p.Asn1858Lys) n.4248T>G c.573T>G (p.Asn191Lys) c.*1337T>G (n.*1337T>G) c.881T>G | |
| 15 | g.48448865A>G | CA490023327 | FBN1 | c.5574T>C (p.Asn1858=) n.4248T>C c.573T>C (p.Asn191=) c.*1337T>C (n.*1337T>C) c.881T>C | |
| 15 | g.48448865A>T | CA392342344 | FBN1 | c.5574T>A (p.Asn1858Lys) n.4248T>A c.573T>A (p.Asn191Lys) c.*1337T>A (n.*1337T>A) c.881T>A | gnomAD v4 |
| 15 | g.48448866T>A | CA392342349 | FBN1 | c.5573A>T (p.Asn1858Ile) n.4247A>T c.572A>T (p.Asn191Ile) c.*1336A>T (n.*1336A>T) c.880A>T | |
| 15 | g.48448866T>C | CA055254 | FBN1 | c.5573A>G (p.Asn1858Ser) n.4247A>G c.572A>G (p.Asn191Ser) c.*1336A>G (n.*1336A>G) c.880A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48448866T>G | CA392342356 | FBN1 | c.5573A>C (p.Asn1858Thr) n.4247A>C c.572A>C (p.Asn191Thr) c.*1336A>C (n.*1336A>C) c.880A>C | ClinVar dbSNP |
| 15 | g.48448866T= | CA2175498503 | FBN1 | c.5573A= (p.Asn1858=) n.4247A= c.572A= (p.Asn191=) c.*1336A= (n.*1336A=) c.880A= |