| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |