| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48474531T>A | CA392320403 | FBN1 | c.4084A>T (p.Thr1362Ser) n.2758A>T c.756A>T (p.Ala252=) | |
| 15 | g.48474531T>C | CA392320401 | FBN1 | c.4084A>G (p.Thr1362Ala) n.2758A>G c.756A>G (p.Ala252=) | |
| 15 | g.48474531T>G | CA392320402 | FBN1 | c.4084A>C (p.Thr1362Pro) n.2758A>C c.756A>C (p.Ala252=) | ClinVar dbSNP |
| 15 | g.48474531T= | CA2175495821 | FBN1 | c.4084A= (p.Thr1362=) n.2758A= c.756A= (p.Ala252=) | |
| 15 | g.48474532G>A | CA490015178 | FBN1 | c.4083C>T (p.Cys1361=) n.2757C>T c.755C>T (p.Ala252Val) | |
| 15 | g.48474532G>C | CA392320404 | FBN1 | c.4083C>G (p.Cys1361Trp) n.2757C>G c.755C>G (p.Ala252Gly) | |
| 15 | g.48474532G>T | CA392320405 | FBN1 | c.4083C>A (p.Cys1361Ter) n.2757C>A c.755C>A (p.Ala252Glu) | |
| 15 | g.48474533C>A | CA392320406 | FBN1 | c.4082G>T (p.Cys1361Phe) n.2756G>T c.754G>T (p.Ala252Ser) | |
| 15 | g.48474533C= | CA2175495827 | FBN1 | c.4082G= (p.Cys1361=) n.2756G= c.754G= (p.Ala252=) | |
| 15 | g.48474533C>G | CA392320407 | FBN1 | c.4082G>C (p.Cys1361Ser) n.2756G>C c.754G>C (p.Ala252Pro) | |
| 15 | g.48474533C>T | CA392320408 | FBN1 | c.4082G>A (p.Cys1361Tyr) n.2756G>A c.754G>A (p.Ala252Thr) | ClinVar dbSNP |
| 15 | g.48474533_48474534delinsTT | CA2695220637 | FBN1 | c.4081_4082delinsAA (p.Cys1361Asn) n.2755_2756delinsAA c.753_754delinsAA (p.Ser251_Ala252delinsArgThr) | |
| 15 | g.48474534A= | CA2175495838 | FBN1 | c.4081T= (p.Cys1361=) n.2755T= c.753T= (p.Ser251=) | |
| 15 | g.48474534A>C | CA392320409 | FBN1 | c.4081T>G (p.Cys1361Gly) n.2755T>G c.753T>G (p.Ser251Arg) | |
| 15 | g.48474534A>G | CA392320410 | FBN1 | c.4081T>C (p.Cys1361Arg) n.2755T>C c.753T>C (p.Ser251=) | ClinVar dbSNP |
| 15 | g.48474534A>T | CA392320411 | FBN1 | c.4081T>A (p.Cys1361Ser) n.2755T>A c.753T>A (p.Ser251Arg) | |
| 15 | g.48474535C>A | CA392320412 | FBN1 | c.4080G>T (p.Lys1360Asn) n.2754G>T c.752G>T (p.Ser251Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48474535C= | CA2175495842 | FBN1 | c.4080G= (p.Lys1360=) n.2754G= c.752G= (p.Ser251=) | |
| 15 | g.48474535C>G | CA392320413 | FBN1 | c.4080G>C (p.Lys1360Asn) n.2754G>C c.752G>C (p.Ser251Thr) | |
| 15 | g.48474535C>T | CA490015179 | FBN1 | c.4080G>A (p.Lys1360=) n.2754G>A c.752G>A (p.Ser251Asn) | |
| 15 | g.48474536T>A | CA392320415 | FBN1 | c.4079A>T (p.Lys1360Met) n.2753A>T c.751A>T (p.Ser251Cys) | |
| 15 | g.48474536T>C | CA392320416 | FBN1 | c.4079A>G (p.Lys1360Arg) n.2753A>G c.751A>G (p.Ser251Gly) | |
| 15 | g.48474536T>G | CA392320414 | FBN1 | c.4079A>C (p.Lys1360Thr) n.2753A>C c.751A>C (p.Ser251Arg) | |
| 15 | g.48474537del | CA2573150844 | FBN1 | c.4079del (p.Lys1360SerfsTer?) n.2753del c.751del (p.Ser251ValfsTer3) | ClinVar dbSNP |
| 15 | g.48474537T>A | CA392320417 | FBN1 | c.4078A>T (p.Lys1360Ter) n.2752A>T c.750A>T (p.Leu250Phe) | |
| 15 | g.48474537T>C | CA392320418 | FBN1 | c.4078A>G (p.Lys1360Glu) n.2752A>G c.750A>G (p.Leu250=) | dbSNP gnomAD v2 |
| 15 | g.48474537T>G | CA392320419 | FBN1 | c.4078A>C (p.Lys1360Gln) n.2752A>C c.750A>C (p.Leu250Phe) | |
| 15 | g.48474537T= | CA2175495849 | FBN1 | c.4078A= (p.Lys1360=) n.2752A= c.750A= (p.Leu250=) | |
| 15 | g.48474538A= | CA2175495869 | FBN1 | c.4077T= (p.Ile1359=) n.2751T= c.749T= (p.Leu250=) | |
| 15 | g.48474538A>C | CA392320420 | FBN1 | c.4077T>G (p.Ile1359Met) n.2751T>G c.749T>G (p.Leu250Ter) | |
| 15 | g.48474538A>G | CA490015187 | FBN1 | c.4077T>C (p.Ile1359=) n.2751T>C c.749T>C (p.Leu250Ser) | |
| 15 | g.48474538A>T | CA051976 | FBN1 | c.4077T>A (p.Ile1359=) n.2751T>A c.749T>A (p.Leu250Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474539A>C | CA392320423 | FBN1 | c.4076T>G (p.Ile1359Ser) n.2750T>G c.748T>G (p.Leu250Val) | |
| 15 | g.48474539A>G | CA392320421 | FBN1 | c.4076T>C (p.Ile1359Thr) n.2750T>C c.748T>C (p.Leu250=) | |
| 15 | g.48474539A>T | CA392320422 | FBN1 | c.4076T>A (p.Ile1359Asn) n.2750T>A c.748T>A (p.Leu250Ile) | |
| 15 | g.48474540T>A | CA392320424 | FBN1 | c.4075A>T (p.Ile1359Phe) n.2749A>T c.747A>T (p.Ala249=) | |
| 15 | g.48474540T>C | CA051965 | FBN1 | c.4075A>G (p.Ile1359Val) n.2749A>G c.747A>G (p.Ala249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474540T>G | CA392320425 | FBN1 | c.4075A>C (p.Ile1359Leu) n.2749A>C c.747A>C (p.Ala249=) | |
| 15 | g.48474540T= | CA2175495879 | FBN1 | c.4075A= (p.Ile1359=) n.2749A= c.747A= (p.Ala249=) | |
| 15 | g.48474541G>A | CA490015194 | FBN1 | c.4074C>T (p.Gly1358=) n.2748C>T c.746C>T (p.Ala249Val) | |
| 15 | g.48474541G>C | CA490015195 | FBN1 | c.4074C>G (p.Gly1358=) n.2748C>G c.746C>G (p.Ala249Gly) | |
| 15 | g.48474541G= | CA2175495906 | FBN1 | c.4074C= (p.Gly1358=) n.2748C= c.746C= (p.Ala249=) | |
| 15 | g.48474541G>T | CA490015197 | FBN1 | c.4074C>A (p.Gly1358=) n.2748C>A c.746C>A (p.Ala249Glu) | ClinVar dbSNP |
| 15 | g.48474542C>A | CA392320426 | FBN1 | c.4073G>T (p.Gly1358Val) n.2747G>T c.745G>T (p.Ala249Ser) | |
| 15 | g.48474542C>G | CA392320427 | FBN1 | c.4073G>C (p.Gly1358Ala) n.2747G>C c.745G>C (p.Ala249Pro) | |
| 15 | g.48474542C>T | CA392320428 | FBN1 | c.4073G>A (p.Gly1358Asp) n.2747G>A c.745G>A (p.Ala249Thr) | gnomAD v4 |
| 15 | g.48474543C>A | CA392320430 | FBN1 | c.4072G>T (p.Gly1358Cys) n.2746G>T c.744G>T (p.Met248Ile) | gnomAD v4 |
| 15 | g.48474543C= | CA2175495908 | FBN1 | c.4072G= (p.Gly1358=) n.2746G= c.744G= (p.Met248=) | |
| 15 | g.48474543C>G | CA392320431 | FBN1 | c.4072G>C (p.Gly1358Arg) n.2746G>C c.744G>C (p.Met248Ile) | |
| 15 | g.48474543C>T | CA392320429 | FBN1 | c.4072G>A (p.Gly1358Ser) n.2746G>A c.744G>A (p.Met248Ile) | ClinVar dbSNP |
| 15 | g.48474544A>C | CA392320432 | FBN1 | c.4071T>G (p.Asp1357Glu) n.2745T>G c.743T>G (p.Met248Arg) | |
| 15 | g.48474544A>G | CA490015203 | FBN1 | c.4071T>C (p.Asp1357=) n.2745T>C c.743T>C (p.Met248Thr) | |
| 15 | g.48474544A>T | CA392320433 | FBN1 | c.4071T>A (p.Asp1357Glu) n.2745T>A c.743T>A (p.Met248Lys) | |
| 15 | g.48474545T>A | CA392320434 | FBN1 | c.4070A>T (p.Asp1357Val) n.2744A>T c.742A>T (p.Met248Leu) | |
| 15 | g.48474545T>C | CA392320435 | FBN1 | c.4070A>G (p.Asp1357Gly) n.2744A>G c.742A>G (p.Met248Val) | gnomAD v4 |
| 15 | g.48474545T>G | CA392320436 | FBN1 | c.4070A>C (p.Asp1357Ala) n.2744A>C c.742A>C (p.Met248Leu) | |
| 15 | g.48474546C>A | CA392320437 | FBN1 | c.4069G>T (p.Asp1357Tyr) n.2743G>T c.741G>T (p.Glu247Asp) | |
| 15 | g.48474546C>G | CA392320438 | FBN1 | c.4069G>C (p.Asp1357His) n.2743G>C c.741G>C (p.Glu247Asp) | |
| 15 | g.48474546C>T | CA392320439 | FBN1 | c.4069G>A (p.Asp1357Asn) n.2743G>A c.741G>A (p.Glu247=) | |
| 15 | g.48474547T>A | CA490015212 | FBN1 | c.4068A>T (p.Gly1356=) n.2742A>T c.740A>T (p.Glu247Val) | |
| 15 | g.48474547T>C | CA490015214 | FBN1 | c.4068A>G (p.Gly1356=) n.2742A>G c.740A>G (p.Glu247Gly) | |
| 15 | g.48474547T>G | CA490015213 | FBN1 | c.4068A>C (p.Gly1356=) n.2742A>C c.740A>C (p.Glu247Ala) | ClinVar dbSNP |
| 15 | g.48474547T= | CA2175495916 | FBN1 | c.4068A= (p.Gly1356=) n.2742A= c.740A= (p.Glu247=) | |
| 15 | g.48474548C>A | CA392320441 | FBN1 | c.4067G>T (p.Gly1356Val) n.2741G>T c.739G>T (p.Glu247Ter) | |
| 15 | g.48474548C>G | CA392320443 | FBN1 | c.4067G>C (p.Gly1356Ala) n.2741G>C c.739G>C (p.Glu247Gln) | gnomAD v4 |
| 15 | g.48474548C>T | CA392320444 | FBN1 | c.4067G>A (p.Gly1356Glu) n.2741G>A c.739G>A (p.Glu247Lys) | |
| 15 | g.48474549C>A | CA269520519 | FBN1 | c.4066G>T (p.Gly1356Ter) n.2740G>T c.738G>T (p.Leu246Phe) | dbSNP |
| 15 | g.48474549C= | CA2175495921 | FBN1 | c.4066G= (p.Gly1356=) n.2740G= c.738G= (p.Leu246=) | |
| 15 | g.48474549C>G | CA392320445 | FBN1 | c.4066G>C (p.Gly1356Arg) n.2740G>C c.738G>C (p.Leu246Phe) | |
| 15 | g.48474549C>T | CA392320446 | FBN1 | c.4066G>A (p.Gly1356Arg) n.2740G>A c.738G>A (p.Leu246=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48474550A= | CA2175495927 | FBN1 | c.4065T= (p.Ile1355=) n.2739T= c.737T= (p.Leu246=) | |
| 15 | g.48474550A>C | CA392320447 | FBN1 | c.4065T>G (p.Ile1355Met) n.2739T>G c.737T>G (p.Leu246Trp) | |
| 15 | g.48474550A>G | CA490015217 | FBN1 | c.4065T>C (p.Ile1355=) n.2739T>C c.737T>C (p.Leu246Ser) | |
| 15 | g.48474550A>T | CA490015218 | FBN1 | c.4065T>A (p.Ile1355=) n.2739T>A c.737T>A (p.Leu246Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48474551A= | CA2175495930 | FBN1 | c.4064T= (p.Ile1355=) n.2738T= c.736T= (p.Leu246=) | |
| 15 | g.48474551A>C | CA392320449 | FBN1 | c.4064T>G (p.Ile1355Ser) n.2738T>G c.736T>G (p.Leu246Val) | |
| 15 | g.48474551A>G | CA051955 | FBN1 | c.4064T>C (p.Ile1355Thr) n.2738T>C c.736T>C (p.Leu246=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474551A>T | CA392320448 | FBN1 | c.4064T>A (p.Ile1355Asn) n.2738T>A c.736T>A (p.Leu246Met) | |
| 15 | g.48474552T>A | CA392320450 | FBN1 | c.4063A>T (p.Ile1355Phe) n.2737A>T c.735A>T (p.Gly245=) | |
| 15 | g.48474552T>C | CA392320451 | FBN1 | c.4063A>G (p.Ile1355Val) n.2737A>G c.735A>G (p.Gly245=) | |
| 15 | g.48474552T>G | CA392320452 | FBN1 | c.4063A>C (p.Ile1355Leu) n.2737A>C c.735A>C (p.Gly245=) | |
| 15 | g.48474553C>A | CA392320453 | FBN1 | c.4062G>T (p.Trp1354Cys) n.2736G>T c.734G>T (p.Gly245Val) | |
| 15 | g.48474553C= | CA2175495937 | FBN1 | c.4062G= (p.Trp1354=) n.2736G= c.734G= (p.Gly245=) | |
| 15 | g.48474553C>G | CA392320454 | FBN1 | c.4062G>C (p.Trp1354Cys) n.2736G>C c.734G>C (p.Gly245Ala) | |
| 15 | g.48474553C>T | CA014736 | FBN1 | c.4062G>A (p.Trp1354Ter) n.2736G>A c.734G>A (p.Gly245Glu) | ClinVar dbSNP |
| 15 | g.48474554C>A | CA392320455 | FBN1 | c.4061G>T (p.Trp1354Leu) n.2735G>T c.733G>T (p.Gly245Ter) | |
| 15 | g.48474554C= | CA2175495942 | FBN1 | c.4061G= (p.Trp1354=) n.2735G= c.733G= (p.Gly245=) | |
| 15 | g.48474554C>G | CA392320456 | FBN1 | c.4061G>C (p.Trp1354Ser) n.2735G>C c.733G>C (p.Gly245Arg) | |
| 15 | g.48474554C>T | CA16614649 | FBN1 | c.4061G>A (p.Trp1354Ter) n.2735G>A c.733G>A (p.Gly245Arg) | ClinVar dbSNP |
| 15 | g.48474554_48474555delinsCA | CA2175495945 | FBN1 | c.4060_4061delinsTG (p.Trp1354=) n.2734_2735delinsTG c.732_733delinsTG (p.Gly244=) | |
| 15 | g.48474555del | CA658683885 | FBN1 | c.4060del (p.Trp1354GlyfsTer?) n.2734del c.732del (p.Gly245AspfsTer6) | ClinVar dbSNP |
| 15 | g.48474555A>C | CA392320457 | FBN1 | c.4060T>G (p.Trp1354Gly) n.2734T>G c.732T>G (p.Gly244=) | |
| 15 | g.48474555A>G | CA392320458 | FBN1 | c.4060T>C (p.Trp1354Arg) n.2734T>C c.732T>C (p.Gly244=) | |
| 15 | g.48474555A>T | CA392320459 | FBN1 | c.4060T>A (p.Trp1354Arg) n.2734T>A c.732T>A (p.Gly244=) | |
| 15 | g.48474556C>A | CA10587203 | FBN1 | c.4059G>T (p.Gly1353=) n.2733G>T c.731G>T (p.Gly244Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474556C= | CA2175495958 | FBN1 | c.4059G= (p.Gly1353=) n.2733G= c.731G= (p.Gly244=) | |
| 15 | g.48474556C>G | CA490015227 | FBN1 | c.4059G>C (p.Gly1353=) n.2733G>C c.731G>C (p.Gly244Ala) | |
| 15 | g.48474556C>T | CA490015228 | FBN1 | c.4059G>A (p.Gly1353=) n.2733G>A c.731G>A (p.Gly244Asp) | gnomAD v4 |
| 15 | g.48474556_48474561del | CA2695220638 | FBN1 | c.4054_4059del (p.Pro1352_Gly1353del) n.2728_2733del c.726_731del (p.Pro243_Gly244del) | |
| 15 | g.48474557C>A | CA392320462 | FBN1 | c.4058G>T (p.Gly1353Val) n.2732G>T c.730G>T (p.Gly244Cys) | |
| 15 | g.48474557C>G | CA392320460 | FBN1 | c.4058G>C (p.Gly1353Ala) n.2732G>C c.730G>C (p.Gly244Arg) | |
| 15 | g.48474557C>T | CA392320461 | FBN1 | c.4058G>A (p.Gly1353Glu) n.2732G>A c.730G>A (p.Gly244Ser) | |
| 15 | g.48474558C>A | CA051936 | FBN1 | c.4057G>T (p.Gly1353Trp) n.2731G>T c.729G>T (p.Pro243=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48474558C= | CA2175495976 | FBN1 | c.4057G= (p.Gly1353=) n.2731G= c.729G= (p.Pro243=) | |
| 15 | g.48474558C>G | CA392320463 | FBN1 | c.4057G>C (p.Gly1353Arg) n.2731G>C c.729G>C (p.Pro243=) | ClinVar dbSNP |
| 15 | g.48474558C>T | CA392320464 | FBN1 | c.4057G>A (p.Gly1353Arg) n.2731G>A c.729G>A (p.Pro243=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474558_48474559delinsCG | CA2175495978 | FBN1 | c.4056_4057delinsCG (p.Pro1352=) n.2730_2731delinsCG c.728_729delinsCG (p.Pro243=) | |
| 15 | g.48474558_48474559insTTTCTGTTAATAAT | CA2175495997 | FBN1 | c.4056_4057insATTATTAACAGAAA (p.Gly1353IlefsTer?) n.2730_2731insATTATTAACAGAAA c.728_729insATTATTAACAGAAA (p.Gly244LeufsTer12) | dbSNP |
| 15 | g.48474559G>A | CA051928 | FBN1 | c.4056C>T (p.Pro1352=) n.2730C>T c.728C>T (p.Pro243Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474559G>C | CA490015232 | FBN1 | c.4056C>G (p.Pro1352=) n.2730C>G c.728C>G (p.Pro243Arg) | |
| 15 | g.48474559G= | CA2175496000 | FBN1 | c.4056C= (p.Pro1352=) n.2730C= c.728C= (p.Pro243=) | |
| 15 | g.48474559G>T | CA051925 | FBN1 | c.4056C>A (p.Pro1352=) n.2730C>A c.728C>A (p.Pro243Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474561del | CA658824323 | FBN1 | c.4056del (p.Trp1354GlyfsTer?) n.2730del c.728del (p.Pro243ArgfsTer8) | ClinVar dbSNP |
| 15 | g.48474560G>A | CA392320465 | FBN1 | c.4055C>T (p.Pro1352Leu) n.2729C>T c.727C>T (p.Pro243Ser) | gnomAD v4 COSMIC |
| 15 | g.48474560G>C | CA392320466 | FBN1 | c.4055C>G (p.Pro1352Arg) n.2729C>G c.727C>G (p.Pro243Ala) | |
| 15 | g.48474560G= | CA2175496014 | FBN1 | c.4055C= (p.Pro1352=) n.2729C= c.727C= (p.Pro243=) | |
| 15 | g.48474560G>T | CA392320467 | FBN1 | c.4055C>A (p.Pro1352His) n.2729C>A c.727C>A (p.Pro243Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474561G>A | CA051917 | FBN1 | c.4054C>T (p.Pro1352Ser) n.2728C>T c.726C>T (p.Val242=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474561G>C | CA269520535 | FBN1 | c.4054C>G (p.Pro1352Ala) n.2728C>G c.726C>G (p.Val242=) | dbSNP |
| 15 | g.48474561G= | CA2175496018 | FBN1 | c.4054C= (p.Pro1352=) n.2728C= c.726C= (p.Val242=) | |
| 15 | g.48474561G>T | CA392320468 | FBN1 | c.4054C>A (p.Pro1352Thr) n.2728C>A c.726C>A (p.Val242=) | |
| 15 | g.48474562A>C | CA392320470 | FBN1 | c.4053T>G (p.Ser1351Arg) n.2727T>G c.725T>G (p.Val242Gly) | |
| 15 | g.48474562A>G | CA490015233 | FBN1 | c.4053T>C (p.Ser1351=) n.2727T>C c.725T>C (p.Val242Ala) | |
| 15 | g.48474562A>T | CA392320469 | FBN1 | c.4053T>A (p.Ser1351Arg) n.2727T>A c.725T>A (p.Val242Asp) | |
| 15 | g.48474563C>A | CA392320471 | FBN1 | c.4052G>T (p.Ser1351Ile) n.2726G>T c.724G>T (p.Val242Phe) | |
| 15 | g.48474563C= | CA2175496032 | FBN1 | c.4052G= (p.Ser1351=) n.2726G= c.724G= (p.Val242=) | |
| 15 | g.48474563C>G | CA392320472 | FBN1 | c.4052G>C (p.Ser1351Thr) n.2726G>C c.724G>C (p.Val242Leu) | |
| 15 | g.48474563C>T | CA392320473 | FBN1 | c.4052G>A (p.Ser1351Asn) n.2726G>A c.724G>A (p.Val242Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474564T>A | CA392320474 | FBN1 | c.4051A>T (p.Ser1351Cys) n.2725A>T c.723A>T (p.Ala241=) | COSMIC |
| 15 | g.48474564T>C | CA392320475 | FBN1 | c.4051A>G (p.Ser1351Gly) n.2725A>G c.723A>G (p.Ala241=) | gnomAD v4 |
| 15 | g.48474564T>G | CA392320476 | FBN1 | c.4051A>C (p.Ser1351Arg) n.2725A>C c.723A>C (p.Ala241=) | |
| 15 | g.48474565G>A | CA269520539 | FBN1 | c.4050C>T (p.Cys1350=) n.2724C>T c.722C>T (p.Ala241Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48474565G>C | CA392320477 | FBN1 | c.4050C>G (p.Cys1350Trp) n.2724C>G c.722C>G (p.Ala241Gly) | |
| 15 | g.48474565G= | CA2175496040 | FBN1 | c.4050C= (p.Cys1350=) n.2724C= c.722C= (p.Ala241=) | |
| 15 | g.48474565G>T | CA014724 | FBN1 | c.4050C>A (p.Cys1350Ter) n.2724C>A c.722C>A (p.Ala241Glu) | ClinVar dbSNP |
| 15 | g.48474566C>A | CA392320478 | FBN1 | c.4049G>T (p.Cys1350Phe) n.2723G>T c.721G>T (p.Ala241Ser) | ClinVar dbSNP |
| 15 | g.48474566C= | CA2175496055 | FBN1 | c.4049G= (p.Cys1350=) n.2723G= c.721G= (p.Ala241=) | |
| 15 | g.48474566C>G | CA392320479 | FBN1 | c.4049G>C (p.Cys1350Ser) n.2723G>C c.721G>C (p.Ala241Pro) | |
| 15 | g.48474566C>T | CA392320480 | FBN1 | c.4049G>A (p.Cys1350Tyr) n.2723G>A c.721G>A (p.Ala241Thr) | ClinVar dbSNP |
| 15 | g.48474567A= | CA2175496082 | FBN1 | c.4048T= (p.Cys1350=) n.2722T= c.720T= (p.Ala240=) | |
| 15 | g.48474567A>C | CA392320481 | FBN1 | c.4048T>G (p.Cys1350Gly) n.2722T>G c.720T>G (p.Ala240=) | ClinVar dbSNP |
| 15 | g.48474567A>G | CA16616744 | FBN1 | c.4048T>C (p.Cys1350Arg) n.2722T>C c.720T>C (p.Ala240=) | ClinVar dbSNP |
| 15 | g.48474567A>T | CA014710 | FBN1 | c.4048T>A (p.Cys1350Ser) n.2722T>A c.720T>A (p.Ala240=) | ClinVar dbSNP |
| 15 | g.48474568G>A | CA490015240 | FBN1 | c.4047C>T (p.Ser1349=) n.2721C>T c.719C>T (p.Ala240Val) | gnomAD v3 gnomAD v4 |
| 15 | g.48474568G>C | CA392320482 | FBN1 | c.4047C>G (p.Ser1349Arg) n.2721C>G c.719C>G (p.Ala240Gly) | |
| 15 | g.48474568G>T | CA392320483 | FBN1 | c.4047C>A (p.Ser1349Arg) n.2721C>A c.719C>A (p.Ala240Asp) | |
| 15 | g.48474569C>A | CA392320484 | FBN1 | c.4046G>T (p.Ser1349Ile) n.2720G>T c.718G>T (p.Ala240Ser) | |
| 15 | g.48474569C= | CA2175496092 | FBN1 | c.4046G= (p.Ser1349=) n.2720G= c.718G= (p.Ala240=) | |
| 15 | g.48474569C>G | CA392320485 | FBN1 | c.4046G>C (p.Ser1349Thr) n.2720G>C c.718G>C (p.Ala240Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48474569C>T | CA392320486 | FBN1 | c.4046G>A (p.Ser1349Asn) n.2720G>A c.718G>A (p.Ala240Thr) | dbSNP |
| 15 | g.48474569dup | CA2695220639 | FBN1 | c.4046dup (p.Ser1349ArgfsTer12) n.2720dup c.718dup (p.Ala240GlyfsTer?) | |
| 15 | g.48474570T>A | CA392320487 | FBN1 | c.4045A>T (p.Ser1349Cys) n.2719A>T c.717A>T (p.Val239=) | |
| 15 | g.48474570T>C | CA392320488 | FBN1 | c.4045A>G (p.Ser1349Gly) n.2719A>G c.717A>G (p.Val239=) | |
| 15 | g.48474570T>G | CA392320489 | FBN1 | c.4045A>C (p.Ser1349Arg) n.2719A>C c.717A>C (p.Val239=) | |
| 15 | g.48474571A= | CA2175496103 | FBN1 | c.4044T= (p.Cys1348=) n.2718T= c.716T= (p.Val239=) | |
| 15 | g.48474571A>C | CA392320490 | FBN1 | c.4044T>G (p.Cys1348Trp) n.2718T>G c.716T>G (p.Val239Gly) | ClinVar dbSNP |
| 15 | g.48474571A>G | CA490015243 | FBN1 | c.4044T>C (p.Cys1348=) n.2718T>C c.716T>C (p.Val239Ala) | |
| 15 | g.48474571A>T | CA392320491 | FBN1 | c.4044T>A (p.Cys1348Ter) n.2718T>A c.716T>A (p.Val239Glu) | |
| 15 | g.48474572C>A | CA392320492 | FBN1 | c.4043G>T (p.Cys1348Phe) n.2717G>T c.715G>T (p.Val239Leu) | ClinVar dbSNP |
| 15 | g.48474572C= | CA2175496114 | FBN1 | c.4043G= (p.Cys1348=) n.2717G= c.715G= (p.Val239=) | |
| 15 | g.48474572C>G | CA392320493 | FBN1 | c.4043G>C (p.Cys1348Ser) n.2717G>C c.715G>C (p.Val239Leu) | |
| 15 | g.48474572C>T | CA392320494 | FBN1 | c.4043G>A (p.Cys1348Tyr) n.2717G>A c.715G>A (p.Val239Ile) | ClinVar dbSNP |
| 15 | g.48474573A>C | CA392320497 | FBN1 | c.4042T>G (p.Cys1348Gly) n.2716T>G c.714T>G (p.Asn238Lys) | |
| 15 | g.48474573A>G | CA392320496 | FBN1 | c.4042T>C (p.Cys1348Arg) n.2716T>C c.714T>C (p.Asn238=) | ClinVar dbSNP |
| 15 | g.48474573A>T | CA392320495 | FBN1 | c.4042T>A (p.Cys1348Ser) n.2716T>A c.714T>A (p.Asn238Lys) | |
| 15 | g.48474574T>A | CA392320498 | FBN1 | c.4041A>T (p.Lys1347Asn) n.2715A>T c.713A>T (p.Asn238Ile) | |
| 15 | g.48474574T>C | CA490015245 | FBN1 | c.4041A>G (p.Lys1347=) n.2715A>G c.713A>G (p.Asn238Ser) | |
| 15 | g.48474574T>G | CA392320499 | FBN1 | c.4041A>C (p.Lys1347Asn) n.2715A>C c.713A>C (p.Asn238Thr) | |
| 15 | g.48474575T>A | CA392320500 | FBN1 | c.4040A>T (p.Lys1347Ile) n.2714A>T c.712A>T (p.Asn238Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48474575T>C | CA392320501 | FBN1 | c.4040A>G (p.Lys1347Arg) n.2714A>G c.712A>G (p.Asn238Asp) | |
| 15 | g.48474575T>G | CA392320502 | FBN1 | c.4040A>C (p.Lys1347Thr) n.2714A>C c.712A>C (p.Asn238His) | |
| 15 | g.48474575T= | CA2175496124 | FBN1 | c.4040A= (p.Lys1347=) n.2714A= c.712A= (p.Asn238=) | |
| 15 | g.48474576T>A | CA392320503 | FBN1 | c.4039A>T (p.Lys1347Ter) n.2713A>T c.711A>T (p.Ser237=) | |
| 15 | g.48474576T>C | CA392320504 | FBN1 | c.4039A>G (p.Lys1347Glu) n.2713A>G c.711A>G (p.Ser237=) | |
| 15 | g.48474576T>G | CA392320505 | FBN1 | c.4039A>C (p.Lys1347Gln) n.2713A>C c.711A>C (p.Ser237=) | |
| 15 | g.48474577G>A | CA490015248 | FBN1 | c.4038C>T (p.Phe1346=) n.2712C>T c.710C>T (p.Ser237Leu) | dbSNP |
| 15 | g.48474577G>C | CA392320506 | FBN1 | c.4038C>G (p.Phe1346Leu) n.2712C>G c.710C>G (p.Ser237Ter) | |
| 15 | g.48474577G= | CA2175496125 | FBN1 | c.4038C= (p.Phe1346=) n.2712C= c.710C= (p.Ser237=) | |
| 15 | g.48474577G>T | CA392320507 | FBN1 | c.4038C>A (p.Phe1346Leu) n.2712C>A c.710C>A (p.Ser237Ter) | COSMIC |
| 15 | g.48474578A= | CA2175496127 | FBN1 | c.4037T= (p.Phe1346=) n.2711T= c.709T= (p.Ser237=) | |
| 15 | g.48474578A>C | CA392320508 | FBN1 | c.4037T>G (p.Phe1346Cys) n.2711T>G c.709T>G (p.Ser237Ala) | |
| 15 | g.48474578A>G | CA392320509 | FBN1 | c.4037T>C (p.Phe1346Ser) n.2711T>C c.709T>C (p.Ser237Pro) | |
| 15 | g.48474578A>T | CA392320510 | FBN1 | c.4037T>A (p.Phe1346Tyr) n.2711T>A c.709T>A (p.Ser237Thr) | |
| 15 | g.48474579A= | CA2175496135 | FBN1 | c.4036T= (p.Phe1346=) n.2710T= c.708T= (p.Ala236=) | |
| 15 | g.48474579A>C | CA392320513 | FBN1 | c.4036T>G (p.Phe1346Val) n.2710T>G c.708T>G (p.Ala236=) | ClinVar dbSNP |
| 15 | g.48474579A>G | CA392320512 | FBN1 | c.4036T>C (p.Phe1346Leu) n.2710T>C c.708T>C (p.Ala236=) | |
| 15 | g.48474579A>T | CA392320511 | FBN1 | c.4036T>A (p.Phe1346Ile) n.2710T>A c.708T>A (p.Ala236=) | |
| 15 | g.48474593_48474594insGTACCAATACAGCAGGAAGCTTCAAATGTAGCTTCCTGCTGTAT | CA915946000 | FBN1 | c.4036_4037insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT (p.Phe1346TyrfsTer3) n.2710_2711insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT c.708_709insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT (p.Ser237ThrfsTer18) | ClinVar dbSNP |
| 15 | g.48474580G>A | CA490015251 | FBN1 | c.4035C>T (p.Ser1345=) n.2709C>T c.707C>T (p.Ala236Val) | ClinVar dbSNP |
| 15 | g.48474580G>C | CA392320515 | FBN1 | c.4035C>G (p.Ser1345Arg) n.2709C>G c.707C>G (p.Ala236Gly) | |
| 15 | g.48474580G= | CA2175496146 | FBN1 | c.4035C= (p.Ser1345=) n.2709C= c.707C= (p.Ala236=) | |
| 15 | g.48474580G>T | CA392320514 | FBN1 | c.4035C>A (p.Ser1345Arg) n.2709C>A c.707C>A (p.Ala236Asp) | |
| 15 | g.48474581C>A | CA392320516 | FBN1 | c.4034G>T (p.Ser1345Ile) n.2708G>T c.706G>T (p.Ala236Ser) | ClinVar dbSNP |
| 15 | g.48474581C= | CA2175496156 | FBN1 | c.4034G= (p.Ser1345=) n.2708G= c.706G= (p.Ala236=) | |
| 15 | g.48474581C>G | CA392320517 | FBN1 | c.4034G>C (p.Ser1345Thr) n.2708G>C c.706G>C (p.Ala236Pro) | |
| 15 | g.48474581C>T | CA051911 | FBN1 | c.4034G>A (p.Ser1345Asn) n.2708G>A c.706G>A (p.Ala236Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474581_48474583delinsCTT | CA2175496161 | FBN1 | c.4032_4034delinsAAG (p.Gly1344=) n.2706_2708delinsAAG c.704_706delinsAAG (p.Glu235=) | |
| 15 | g.48474582T>A | CA392320518 | FBN1 | c.4033A>T (p.Ser1345Cys) n.2707A>T c.705A>T (p.Glu235Asp) | |
| 15 | g.48474582T>C | CA392320519 | FBN1 | c.4033A>G (p.Ser1345Gly) n.2707A>G c.705A>G (p.Glu235=) | |
| 15 | g.48474582T>G | CA392320520 | FBN1 | c.4033A>C (p.Ser1345Arg) n.2707A>C c.705A>C (p.Glu235Asp) | ClinVar |
| 15 | g.48474582_48474583del | CA658824324 | FBN1 | c.4032_4033del (p.Ser1345LeufsTer4) n.2706_2707del c.704_705del (p.Glu235GlyfsTer?) | ClinVar dbSNP |
| 15 | g.48474583T>A | CA490015253 | FBN1 | c.4032A>T (p.Gly1344=) n.2706A>T c.704A>T (p.Glu235Val) | |
| 15 | g.48474583T>C | CA490015254 | FBN1 | c.4032A>G (p.Gly1344=) n.2706A>G c.704A>G (p.Glu235Gly) | gnomAD v4 |
| 15 | g.48474583T>G | CA490015255 | FBN1 | c.4032A>C (p.Gly1344=) n.2706A>C c.704A>C (p.Glu235Ala) | |
| 15 | g.48474584C>A | CA392320521 | FBN1 | c.4031G>T (p.Gly1344Val) n.2705G>T c.703G>T (p.Glu235Ter) | |
| 15 | g.48474584C= | CA2175496171 | FBN1 | c.4031G= (p.Gly1344=) n.2705G= c.703G= (p.Glu235=) | |
| 15 | g.48474584C>G | CA392320522 | FBN1 | c.4031G>C (p.Gly1344Ala) n.2705G>C c.703G>C (p.Glu235Gln) | |
| 15 | g.48474584C>T | CA392320523 | FBN1 | c.4031G>A (p.Gly1344Glu) n.2705G>A c.703G>A (p.Glu235Lys) | ClinVar dbSNP |
| 15 | g.48474585C>A | CA392320524 | FBN1 | c.4030G>T (p.Gly1344Ter) n.2704G>T c.702G>T (p.Gln234His) | |
| 15 | g.48474585C>G | CA392320525 | FBN1 | c.4030G>C (p.Gly1344Arg) n.2704G>C c.702G>C (p.Gln234His) | |
| 15 | g.48474585C>T | CA392320526 | FBN1 | c.4030G>A (p.Gly1344Arg) n.2704G>A c.702G>A (p.Gln234=) | |
| 15 | g.48474585_48474586delinsCT | CA2175496176 | FBN1 | c.4029_4030delinsAG (p.Ala1343=) n.2703_2704delinsAG c.701_702delinsAG (p.Gln234=) | |
| 15 | g.48474586del | CA1139663890 | FBN1 | c.4029del (p.Gly1344GlufsTer?) n.2703del c.701del (p.Gln234ArgfsTer6) | ClinVar dbSNP |
| 15 | g.48474586T>A | CA490015257 | FBN1 | c.4029A>T (p.Ala1343=) n.2703A>T c.701A>T (p.Gln234Leu) | dbSNP |
| 15 | g.48474586T>C | CA490015258 | FBN1 | c.4029A>G (p.Ala1343=) n.2703A>G c.701A>G (p.Gln234Arg) | |
| 15 | g.48474586T>G | CA490015259 | FBN1 | c.4029A>C (p.Ala1343=) n.2703A>C c.701A>C (p.Gln234Pro) | |
| 15 | g.48474586T= | CA2175496185 | FBN1 | c.4029A= (p.Ala1343=) n.2703A= c.701A= (p.Gln234=) | |
| 15 | g.48474587G>A | CA392320529 | FBN1 | c.4028C>T (p.Ala1343Val) n.2702C>T c.700C>T (p.Gln234Ter) | |
| 15 | g.48474587G>C | CA392320527 | FBN1 | c.4028C>G (p.Ala1343Gly) n.2702C>G c.700C>G (p.Gln234Glu) | |
| 15 | g.48474587G>T | CA392320528 | FBN1 | c.4028C>A (p.Ala1343Glu) n.2702C>A c.700C>A (p.Gln234Lys) | |
| 15 | g.48474588C>A | CA392320530 | FBN1 | c.4027G>T (p.Ala1343Ser) n.2701G>T c.699G>T (p.Gln233His) | ClinVar dbSNP |
| 15 | g.48474588C= | CA2175496195 | FBN1 | c.4027G= (p.Ala1343=) n.2701G= c.699G= (p.Gln233=) | |
| 15 | g.48474588C>G | CA392320531 | FBN1 | c.4027G>C (p.Ala1343Pro) n.2701G>C c.699G>C (p.Gln233His) | |
| 15 | g.48474588C>T | CA392320532 | FBN1 | c.4027G>A (p.Ala1343Thr) n.2701G>A c.699G>A (p.Gln233=) | ClinVar dbSNP |
| 15 | g.48474589T>A | CA490015261 | FBN1 | c.4026A>T (p.Thr1342=) n.2700A>T c.698A>T (p.Gln233Leu) | |
| 15 | g.48474589T>C | CA051902 | FBN1 | c.4026A>G (p.Thr1342=) n.2700A>G c.698A>G (p.Gln233Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474589T>G | CA490015262 | FBN1 | c.4026A>C (p.Thr1342=) n.2700A>C c.698A>C (p.Gln233Pro) | |
| 15 | g.48474589T= | CA2175496204 | FBN1 | c.4026A= (p.Thr1342=) n.2700A= c.698A= (p.Gln233=) | |
| 15 | g.48474590G>A | CA392320533 | FBN1 | c.4025C>T (p.Thr1342Ile) n.2699C>T c.697C>T (p.Gln233Ter) | |
| 15 | g.48474590G>C | CA392320534 | FBN1 | c.4025C>G (p.Thr1342Arg) n.2699C>G c.697C>G (p.Gln233Glu) | gnomAD v4 |
| 15 | g.48474590G>T | CA392320535 | FBN1 | c.4025C>A (p.Thr1342Lys) n.2699C>A c.697C>A (p.Gln233Lys) | |
| 15 | g.48474591T>A | CA392320536 | FBN1 | c.4024A>T (p.Thr1342Ser) n.2698A>T c.696A>T (p.Ile232=) | |
| 15 | g.48474591T>C | CA392320537 | FBN1 | c.4024A>G (p.Thr1342Ala) n.2698A>G c.696A>G (p.Ile232Met) | COSMIC |
| 15 | g.48474591T>G | CA392320538 | FBN1 | c.4024A>C (p.Thr1342Pro) n.2698A>C c.696A>C (p.Ile232=) | ClinVar dbSNP |
| 15 | g.48474591dup | CA2695220640 | FBN1 | c.4024dup (p.Thr1342AsnfsTer8) n.2698dup c.696dup (p.Gln233ThrfsTer?) | ClinVar |
| 15 | g.48474592A= | CA2175496214 | FBN1 | c.4023T= (p.Asn1341=) n.2697T= c.695T= (p.Ile232=) | |
| 15 | g.48474592A>C | CA392320539 | FBN1 | c.4023T>G (p.Asn1341Lys) n.2697T>G c.695T>G (p.Ile232Arg) | |
| 15 | g.48474592A>G | CA490015265 | FBN1 | c.4023T>C (p.Asn1341=) n.2697T>C c.695T>C (p.Ile232Thr) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48474592A>T | CA392320540 | FBN1 | c.4023T>A (p.Asn1341Lys) n.2697T>A c.695T>A (p.Ile232Lys) | |
| 15 | g.48474593T>A | CA392320542 | FBN1 | c.4022A>T (p.Asn1341Ile) n.2696A>T c.694A>T (p.Ile232Leu) | |
| 15 | g.48474593T>C | CA269520550 | FBN1 | c.4022A>G (p.Asn1341Ser) n.2696A>G c.694A>G (p.Ile232Val) | ClinVar dbSNP |
| 15 | g.48474593T>G | CA392320541 | FBN1 | c.4022A>C (p.Asn1341Thr) n.2696A>C c.694A>C (p.Ile232Leu) | |
| 15 | g.48474593T= | CA2175496223 | FBN1 | c.4022A= (p.Asn1341=) n.2696A= c.694A= (p.Ile232=) | |
| 15 | g.48474594T>A | CA392320543 | FBN1 | c.4021A>T (p.Asn1341Tyr) n.2695A>T c.693A>T (p.Pro231=) | |
| 15 | g.48474594T>C | CA392320545 | FBN1 | c.4021A>G (p.Asn1341Asp) n.2695A>G c.693A>G (p.Pro231=) | |
| 15 | g.48474594T>G | CA392320544 | FBN1 | c.4021A>C (p.Asn1341His) n.2695A>C c.693A>C (p.Pro231=) | |
| 15 | g.48474594_48474595del | CA2575717301 | FBN1 | c.4020_4021del (p.Asn1341TyrfsTer8) n.2694_2695del c.692_693del (p.Pro231HisfsTer?) | |
| 15 | g.48474595G>A | CA490015267 | FBN1 | c.4020C>T (p.Thr1340=) n.2694C>T c.692C>T (p.Pro231Leu) | dbSNP |
| 15 | g.48474595G>C | CA490015268 | FBN1 | c.4020C>G (p.Thr1340=) n.2694C>G c.692C>G (p.Pro231Arg) | |
| 15 | g.48474595G= | CA2175496239 | FBN1 | c.4020C= (p.Thr1340=) n.2694C= c.692C= (p.Pro231=) | |
| 15 | g.48474595G>T | CA490015269 | FBN1 | c.4020C>A (p.Thr1340=) n.2694C>A c.692C>A (p.Pro231Gln) | |
| 15 | g.48474596del | CA16602234 | FBN1 | c.4020del (p.Asn1341IlefsTer?) n.2694del c.692del (p.Pro231GlnfsTer9) | ClinVar dbSNP |
| 15 | g.48474596G>A | CA392320546 | FBN1 | c.4019C>T (p.Thr1340Ile) n.2693C>T c.691C>T (p.Pro231Ser) | |
| 15 | g.48474596G>C | CA392320547 | FBN1 | c.4019C>G (p.Thr1340Ser) n.2693C>G c.691C>G (p.Pro231Ala) | |
| 15 | g.48474596G>T | CA392320548 | FBN1 | c.4019C>A (p.Thr1340Asn) n.2693C>A c.691C>A (p.Pro231Thr) | |
| 15 | g.48474597T>A | CA392320549 | FBN1 | c.4018A>T (p.Thr1340Ser) n.2692A>T c.690A>T (p.Val230=) | |
| 15 | g.48474597T>C | CA051896 | FBN1 | c.4018A>G (p.Thr1340Ala) n.2692A>G c.690A>G (p.Val230=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474597T>G | CA392320550 | FBN1 | c.4018A>C (p.Thr1340Pro) n.2692A>C c.690A>C (p.Val230=) | |
| 15 | g.48474597T= | CA2175496243 | FBN1 | c.4018A= (p.Thr1340=) n.2692A= c.690A= (p.Val230=) | |
| 15 | g.48474598A>C | CA392320551 | FBN1 | c.4017T>G (p.Cys1339Trp) n.2691T>G c.689T>G (p.Val230Gly) | |
| 15 | g.48474598A>G | CA490015272 | FBN1 | c.4017T>C (p.Cys1339=) n.2691T>C c.689T>C (p.Val230Ala) | |
| 15 | g.48474598A>T | CA392320552 | FBN1 | c.4017T>A (p.Cys1339Ter) n.2691T>A c.689T>A (p.Val230Glu) | |
| 15 | g.48474599C>A | CA392320553 | FBN1 | c.4016G>T (p.Cys1339Phe) n.2690G>T c.688G>T (p.Val230Leu) | |
| 15 | g.48474599C= | CA2175496258 | FBN1 | c.4016G= (p.Cys1339=) n.2690G= c.688G= (p.Val230=) | |
| 15 | g.48474599C>G | CA014696 | FBN1 | c.4016G>C (p.Cys1339Ser) n.2690G>C c.688G>C (p.Val230Leu) | ClinVar dbSNP |
| 15 | g.48474599C>T | CA392320554 | FBN1 | c.4016G>A (p.Cys1339Tyr) n.2690G>A c.688G>A (p.Val230Ile) | ClinVar dbSNP |
| 15 | g.48474599_48474600insCA | CA2575717303 | FBN1 | c.4015_4016insTG (p.Cys1339LeufsTer?) n.2689_2690insTG c.687_688insTG (p.Val230TrpfsTer11) | |
| 15 | g.48474600A>C | CA392320557 | FBN1 | c.4015T>G (p.Cys1339Gly) n.2689T>G c.687T>G (p.Tyr229Ter) | |
| 15 | g.48474600A>G | CA392320555 | FBN1 | c.4015T>C (p.Cys1339Arg) n.2689T>C c.687T>C (p.Tyr229=) | |
| 15 | g.48474600A>T | CA392320556 | FBN1 | c.4015T>A (p.Cys1339Ser) n.2689T>A c.687T>A (p.Tyr229Ter) | |
| 15 | g.48474600_48474601insGC | CA2804071445 | FBN1 | c.4014_4015insGC (p.Cys1339AlafsTer?) n.2688_2689insGC c.686_687insGC (p.Tyr229Ter) | |
| 15 | g.48474601T>A | CA490015276 | FBN1 | c.4014A>T (p.Val1338=) n.2688A>T c.686A>T (p.Tyr229Phe) | |
| 15 | g.48474601T>C | CA051889 | FBN1 | c.4014A>G (p.Val1338=) n.2688A>G c.686A>G (p.Tyr229Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474601T>G | CA490015277 | FBN1 | c.4014A>C (p.Val1338=) n.2688A>C c.686A>C (p.Tyr229Ser) | |
| 15 | g.48474601T= | CA2175496271 | FBN1 | c.4014A= (p.Val1338=) n.2688A= c.686A= (p.Tyr229=) | |
| 15 | g.48474602A>C | CA392320558 | FBN1 | c.4013T>G (p.Val1338Gly) n.2687T>G c.685T>G (p.Tyr229Asp) | |
| 15 | g.48474602A>G | CA392320559 | FBN1 | c.4013T>C (p.Val1338Ala) n.2687T>C c.685T>C (p.Tyr229His) | |
| 15 | g.48474602A>T | CA392320560 | FBN1 | c.4013T>A (p.Val1338Glu) n.2687T>A c.685T>A (p.Tyr229Asn) | |
| 15 | g.48474602_48474603insGTATTTCTTTTGCTAGTATTTTTAGTAAGTCAACTATGGAGTAATGATGCACATTATTTTCATATCTTGTATAGA | CA2804071449 | FBN1 | c.4013_4014insCTATACAAGATATGAAAATAATGTGCATCATTACTCCATAGTTGACTTACTAAAAATACTAGCAAAAGAAATACT (p.Val1338_Cys1339insTyrThrArgTyrGluAsnAsnValHisHisTyrSerIleValAspLeuLeuLysIleLeuAlaLysGluIleLeu) n.2687_2688insCTATACAAGATATGAAAATAATGTGCATCATTACTCCATAGTTGACTTACTAAAAATACTAGCAAAAGAAATACT c.685_686insCTATACAAGATATGAAAATAATGTGCATCATTACTCCATAGTTGACTTACTAAAAATACTAGCAAAAGAAATACT (p.Tyr229SerfsTer14) | |
| 15 | g.48474603C>A | CA392320561 | FBN1 | c.4012G>T (p.Val1338Leu) n.2686G>T c.684G>T (p.Leu228=) | |
| 15 | g.48474603C= | CA2175496277 | FBN1 | c.4012G= (p.Val1338=) n.2686G= c.684G= (p.Leu228=) | |
| 15 | g.48474603C>G | CA392320562 | FBN1 | c.4012G>C (p.Val1338Leu) n.2686G>C c.684G>C (p.Leu228=) | |
| 15 | g.48474603C>T | CA392320563 | FBN1 | c.4012G>A (p.Val1338Ile) n.2686G>A c.684G>A (p.Leu228=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474603_48474604delinsCA | CA2175496285 | FBN1 | c.4011_4012delinsTG (p.Ala1337=) n.2685_2686delinsTG c.683_684delinsTG (p.Leu228=) | |
| 15 | g.48474604del | CA916082396 | FBN1 | c.4011del (p.Val1338TyrfsTer?) n.2685del c.683del (p.Leu228ArgfsTer12) | ClinVar dbSNP |
| 15 | g.48474604A>C | CA490015281 | FBN1 | c.4011T>G (p.Ala1337=) n.2685T>G c.683T>G (p.Leu228Arg) | |
| 15 | g.48474604A>G | CA490015282 | FBN1 | c.4011T>C (p.Ala1337=) n.2685T>C c.683T>C (p.Leu228Pro) | ClinVar |
| 15 | g.48474604A>T | CA490015283 | FBN1 | c.4011T>A (p.Ala1337=) n.2685T>A c.683T>A (p.Leu228Gln) | |
| 15 | g.48474604dup | CA2740096597 | FBN1 | c.4011dup (p.Val1338CysfsTer12) n.2685dup c.683dup (p.Tyr229ValfsTer?) | ClinVar |
| 15 | g.48474605G>A | CA392320564 | FBN1 | c.4010C>T (p.Ala1337Val) n.2684C>T c.682C>T (p.Leu228=) | ClinVar dbSNP |
| 15 | g.48474605G>C | CA392320565 | FBN1 | c.4010C>G (p.Ala1337Gly) n.2684C>G c.682C>G (p.Leu228Val) | |
| 15 | g.48474605G= | CA2175496301 | FBN1 | c.4010C= (p.Ala1337=) n.2684C= c.682C= (p.Leu228=) | |
| 15 | g.48474605G>T | CA269520558 | FBN1 | c.4010C>A (p.Ala1337Asp) n.2684C>A c.682C>A (p.Leu228Met) | dbSNP |
| 15 | g.48474606_48474609del | CA2697549055 | FBN1 | c.4007_4010del (p.His1336LeufsTer?) n.2681_2684del c.679_682del (p.Met227CysfsTer12) | ClinVar |
| 15 | g.48474606C>A | CA392320566 | FBN1 | c.4009G>T (p.Ala1337Ser) n.2683G>T c.681G>T (p.Met227Ile) | |
| 15 | g.48474606C= | CA2175496312 | FBN1 | c.4009G= (p.Ala1337=) n.2683G= c.681G= (p.Met227=) | |
| 15 | g.48474606C>G | CA392320567 | FBN1 | c.4009G>C (p.Ala1337Pro) n.2683G>C c.681G>C (p.Met227Ile) | ClinVar dbSNP |
| 15 | g.48474606C>T | CA051879 | FBN1 | c.4009G>A (p.Ala1337Thr) n.2683G>A c.681G>A (p.Met227Ile) | dbSNP ExAC gnomAD v2 |
| 15 | g.48474607A>C | CA392320568 | FBN1 | c.4008T>G (p.His1336Gln) n.2682T>G c.680T>G (p.Met227Arg) | |
| 15 | g.48474607A>G | CA490015285 | FBN1 | c.4008T>C (p.His1336=) n.2682T>C c.680T>C (p.Met227Thr) | |
| 15 | g.48474607A>T | CA392320569 | FBN1 | c.4008T>A (p.His1336Gln) n.2682T>A c.680T>A (p.Met227Lys) | dbSNP |
| 15 | g.48474608T>A | CA392320570 | FBN1 | c.4007A>T (p.His1336Leu) n.2681A>T c.679A>T (p.Met227Leu) | |
| 15 | g.48474608T>C | CA10587832 | FBN1 | c.4007A>G (p.His1336Arg) n.2681A>G c.679A>G (p.Met227Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474608T>G | CA392320571 | FBN1 | c.4007A>C (p.His1336Pro) n.2681A>C c.679A>C (p.Met227Leu) | |
| 15 | g.48474608T= | CA2175496320 | FBN1 | c.4007A= (p.His1336=) n.2681A= c.679A= (p.Met227=) | |
| 15 | g.48474609G>A | CA392320574 | FBN1 | c.4006C>T (p.His1336Tyr) n.2680C>T c.678C>T (p.Asn226=) | gnomAD v4 |
| 15 | g.48474609G>C | CA392320572 | FBN1 | c.4006C>G (p.His1336Asp) n.2680C>G c.678C>G (p.Asn226Lys) | |
| 15 | g.48474609G>T | CA392320573 | FBN1 | c.4006C>A (p.His1336Asn) n.2680C>A c.678C>A (p.Asn226Lys) | |
| 15 | g.48474610T>A | CA392320575 | FBN1 | c.4005A>T (p.Lys1335Asn) n.2679A>T c.677A>T (p.Asn226Ile) | |
| 15 | g.48474610T>C | CA490015287 | FBN1 | c.4005A>G (p.Lys1335=) n.2679A>G c.677A>G (p.Asn226Ser) | |
| 15 | g.48474610T>G | CA392320576 | FBN1 | c.4005A>C (p.Lys1335Asn) n.2679A>C c.677A>C (p.Asn226Thr) | |
| 15 | g.48474612del | CA2695220641 | FBN1 | c.4005del (p.Lys1335AsnfsTer?) n.2679del c.677del (p.Asn226ThrfsTer14) | |
| 15 | g.48474611T>A | CA392320577 | FBN1 | c.4004A>T (p.Lys1335Ile) n.2678A>T c.676A>T (p.Asn226Tyr) | |
| 15 | g.48474611T>C | CA392320578 | FBN1 | c.4004A>G (p.Lys1335Arg) n.2678A>G c.676A>G (p.Asn226Asp) | |
| 15 | g.48474611T>G | CA392320579 | FBN1 | c.4004A>C (p.Lys1335Thr) n.2678A>C c.676A>C (p.Asn226His) | |
| 15 | g.48474611T= | CA2175496327 | FBN1 | c.4004A= (p.Lys1335=) n.2678A= c.676A= (p.Asn226=) | |
| 15 | g.48474612T>A | CA392320580 | FBN1 | c.4003A>T (p.Lys1335Ter) n.2677A>T c.675A>T (p.Ala225=) | |
| 15 | g.48474612T>C | CA392320582 | FBN1 | c.4003A>G (p.Lys1335Glu) n.2677A>G c.675A>G (p.Ala225=) | |
| 15 | g.48474612T>G | CA392320581 | FBN1 | c.4003A>C (p.Lys1335Gln) n.2677A>C c.675A>C (p.Ala225=) | |
| 15 | g.48474612_48474613del | CA2573150763 | FBN1 | c.4002_4003del (p.Lys1335ThrfsTer14) n.2676_2677del c.674_675del (p.Ala225GlufsTer?) | ClinVar dbSNP |
| 15 | g.48474616_48474617insGAGTTGTGTGCCA | CA658798361 | FBN1 | c.4003_4004insCACAACTCTGGCA (p.Lys1335ThrfsTer19) n.2677_2678insCACAACTCTGGCA c.675_676insCACAACTCTGGCA (p.Asn226HisfsTer?) | ClinVar dbSNP |
| 15 | g.48474613G>A | CA490015292 | FBN1 | c.4002C>T (p.Gly1334=) n.2676C>T c.674C>T (p.Ala225Val) | |
| 15 | g.48474613G>C | CA490015291 | FBN1 | c.4002C>G (p.Gly1334=) n.2676C>G c.674C>G (p.Ala225Gly) | |
| 15 | g.48474613G>T | CA490015290 | FBN1 | c.4002C>A (p.Gly1334=) n.2676C>A c.674C>A (p.Ala225Glu) | |
| 15 | g.48474614C>A | CA392320583 | FBN1 | c.4001G>T (p.Gly1334Val) n.2675G>T c.673G>T (p.Ala225Ser) | |
| 15 | g.48474614C= | CA2175496344 | FBN1 | c.4001G= (p.Gly1334=) n.2675G= c.673G= (p.Ala225=) | |
| 15 | g.48474614C>G | CA392320584 | FBN1 | c.4001G>C (p.Gly1334Ala) n.2675G>C c.673G>C (p.Ala225Pro) | |
| 15 | g.48474614C>T | CA014688 | FBN1 | c.4001G>A (p.Gly1334Asp) n.2675G>A c.673G>A (p.Ala225Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474615C>A | CA392320585 | FBN1 | c.4000G>T (p.Gly1334Cys) n.2674G>T c.672G>T (p.Val224=) | |
| 15 | g.48474615C>G | CA392320586 | FBN1 | c.4000G>C (p.Gly1334Arg) n.2674G>C c.672G>C (p.Val224=) | |
| 15 | g.48474615C>T | CA392320587 | FBN1 | c.4000G>A (p.Gly1334Ser) n.2674G>A c.672G>A (p.Val224=) | |
| 15 | g.48474617_48474618del | CA2740096598 | FBN1 | c.3999_4000del (p.Cys1333TrpfsTer16) n.2673_2674del c.671_672del (p.Val224GlyfsTer?) | ClinVar |
| 15 | g.48474616A>C | CA392320588 | FBN1 | c.3999T>G (p.Cys1333Trp) n.2673T>G c.671T>G (p.Val224Gly) | |
| 15 | g.48474616A>G | CA490015297 | FBN1 | c.3999T>C (p.Cys1333=) n.2673T>C c.671T>C (p.Val224Ala) | |
| 15 | g.48474616A>T | CA392320589 | FBN1 | c.3999T>A (p.Cys1333Ter) n.2673T>A c.671T>A (p.Val224Glu) | |
| 15 | g.48474617C>A | CA392320590 | FBN1 | c.3998G>T (p.Cys1333Phe) n.2672G>T c.670G>T (p.Val224Leu) | |
| 15 | g.48474617C= | CA2175496352 | FBN1 | c.3998G= (p.Cys1333=) n.2672G= c.670G= (p.Val224=) | |
| 15 | g.48474617C>G | CA392320591 | FBN1 | c.3998G>C (p.Cys1333Ser) n.2672G>C c.670G>C (p.Val224Leu) | dbSNP |
| 15 | g.48474617C>T | CA392320592 | FBN1 | c.3998G>A (p.Cys1333Tyr) n.2672G>A c.670G>A (p.Val224Met) | ClinVar |
| 15 | g.48474618A>C | CA392320595 | FBN1 | c.3997T>G (p.Cys1333Gly) n.2671T>G c.669T>G (p.Thr223=) | |
| 15 | g.48474618A>G | CA392320594 | FBN1 | c.3997T>C (p.Cys1333Arg) n.2671T>C c.669T>C (p.Thr223=) | |
| 15 | g.48474618A>T | CA392320593 | FBN1 | c.3997T>A (p.Cys1333Ser) n.2671T>A c.669T>A (p.Thr223=) | |
| 15 | g.48474619G>A | CA490015299 | FBN1 | c.3996C>T (p.Asn1332=) n.2670C>T c.668C>T (p.Thr223Ile) | |
| 15 | g.48474619G>C | CA392320596 | FBN1 | c.3996C>G (p.Asn1332Lys) n.2670C>G c.668C>G (p.Thr223Ser) | ClinVar dbSNP |
| 15 | g.48474619G= | CA2175496362 | FBN1 | c.3996C= (p.Asn1332=) n.2670C= c.668C= (p.Thr223=) | |
| 15 | g.48474619G>T | CA392320597 | FBN1 | c.3996C>A (p.Asn1332Lys) n.2670C>A c.668C>A (p.Thr223Asn) | |
| 15 | g.48474620T>A | CA392320598 | FBN1 | c.3995A>T (p.Asn1332Ile) n.2669A>T c.667A>T (p.Thr223Ser) | |
| 15 | g.48474620T>C | CA392320599 | FBN1 | c.3995A>G (p.Asn1332Ser) n.2669A>G c.667A>G (p.Thr223Ala) | |
| 15 | g.48474620T>G | CA392320600 | FBN1 | c.3995A>C (p.Asn1332Thr) n.2669A>C c.667A>C (p.Thr223Pro) | |
| 15 | g.48474621del | CA2695220642 | FBN1 | c.3995del (p.Asn1332ThrfsTer?) n.2669del c.667del (p.Thr223LeufsTer17) | |
| 15 | g.48474621T>A | CA392320601 | FBN1 | c.3994A>T (p.Asn1332Tyr) n.2668A>T c.666A>T (p.Thr222=) | |
| 15 | g.48474621T>C | CA392320602 | FBN1 | c.3994A>G (p.Asn1332Asp) n.2668A>G c.666A>G (p.Thr222=) | |
| 15 | g.48474621T>G | CA392320603 | FBN1 | c.3994A>C (p.Asn1332His) n.2668A>C c.666A>C (p.Thr222=) | |
| 15 | g.48474621_48474622delinsTG | CA2175496371 | FBN1 | c.3993_3994delinsCA (p.His1331=) n.2667_2668delinsCA c.665_666delinsCA (p.Thr222=) | |
| 15 | g.48474625_48474626dup | CA2695220643 | FBN1 | c.3993_3994dup (p.Asn1332ThrfsTer?) n.2667_2668dup c.665_666dup (p.Thr223GlnfsTer18) | |
| 15 | g.48474622del | CA658824325 | FBN1 | c.3993del (p.His1331GlnfsTer?) n.2667del c.665del (p.Thr222LysfsTer18) | ClinVar dbSNP |
| 15 | g.48474622G>A | CA490015301 | FBN1 | c.3993C>T (p.His1331=) n.2667C>T c.665C>T (p.Thr222Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48474622G>C | CA392320605 | FBN1 | c.3993C>G (p.His1331Gln) n.2667C>G c.665C>G (p.Thr222Arg) | |
| 15 | g.48474622G= | CA2175496378 | FBN1 | c.3993C= (p.His1331=) n.2667C= c.665C= (p.Thr222=) | |
| 15 | g.48474622G>T | CA392320604 | FBN1 | c.3993C>A (p.His1331Gln) n.2667C>A c.665C>A (p.Thr222Lys) | |
| 15 | g.48474623T>A | CA392320606 | FBN1 | c.3992A>T (p.His1331Leu) n.2666A>T c.664A>T (p.Thr222Ser) | |
| 15 | g.48474623T>C | CA392320607 | FBN1 | c.3992A>G (p.His1331Arg) n.2666A>G c.664A>G (p.Thr222Ala) | |
| 15 | g.48474623T>G | CA392320608 | FBN1 | c.3992A>C (p.His1331Pro) n.2666A>C c.664A>C (p.Thr222Pro) | |
| 15 | g.48474624G>A | CA392320609 | FBN1 | c.3991C>T (p.His1331Tyr) n.2665C>T c.663C>T (p.His221=) | |
| 15 | g.48474624G>C | CA392320610 | FBN1 | c.3991C>G (p.His1331Asp) n.2665C>G c.663C>G (p.His221Gln) | |
| 15 | g.48474624G>T | CA392320611 | FBN1 | c.3991C>A (p.His1331Asn) n.2665C>A c.663C>A (p.His221Gln) | |
| 15 | g.48474625T>A | CA490015303 | FBN1 | c.3990A>T (p.Ala1330=) n.2664A>T c.662A>T (p.His221Leu) | |
| 15 | g.48474625T>C | CA490015304 | FBN1 | c.3990A>G (p.Ala1330=) n.2664A>G c.662A>G (p.His221Arg) | ClinVar dbSNP |
| 15 | g.48474625T>G | CA490015305 | FBN1 | c.3990A>C (p.Ala1330=) n.2664A>C c.662A>C (p.His221Pro) | |
| 15 | g.48474625T= | CA2175496386 | FBN1 | c.3990A= (p.Ala1330=) n.2664A= c.662A= (p.His221=) | |
| 15 | g.48474626G>A | CA392320614 | FBN1 | c.3989C>T (p.Ala1330Val) n.2663C>T c.661C>T (p.His221Tyr) | ClinVar |
| 15 | g.48474626G>C | CA392320612 | FBN1 | c.3989C>G (p.Ala1330Gly) n.2663C>G c.661C>G (p.His221Asp) | |
| 15 | g.48474626G>T | CA392320613 | FBN1 | c.3989C>A (p.Ala1330Glu) n.2663C>A c.661C>A (p.His221Asn) | |
| 15 | g.48474626dup | CA2695220644 | FBN1 | c.3989dup (p.His1331ThrfsTer19) n.2663dup c.661dup (p.His221ProfsTer?) | |
| 15 | g.48474627C>A | CA392320615 | FBN1 | c.3988G>T (p.Ala1330Ser) n.2662G>T c.660G>T (p.Glu220Asp) | |
| 15 | g.48474627C= | CA2175496405 | FBN1 | c.3988G= (p.Ala1330=) n.2662G= c.660G= (p.Glu220=) | |
| 15 | g.48474627C>G | CA392320616 | FBN1 | c.3988G>C (p.Ala1330Pro) n.2662G>C c.660G>C (p.Glu220Asp) | ClinVar |
| 15 | g.48474627C>T | CA392320617 | FBN1 | c.3988G>A (p.Ala1330Thr) n.2662G>A c.660G>A (p.Glu220=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474628T>A | CA490015307 | FBN1 | c.3987A>T (p.Gly1329=) n.2661A>T c.659A>T (p.Glu220Val) | |
| 15 | g.48474628T>C | CA490015308 | FBN1 | c.3987A>G (p.Gly1329=) n.2661A>G c.659A>G (p.Glu220Gly) | |
| 15 | g.48474628T>G | CA490015309 | FBN1 | c.3987A>C (p.Gly1329=) n.2661A>C c.659A>C (p.Glu220Ala) | |
| 15 | g.48474629C>A | CA392320618 | FBN1 | c.3986G>T (p.Gly1329Val) n.2660G>T c.658G>T (p.Glu220Ter) | |
| 15 | g.48474629C= | CA2175496410 | FBN1 | c.3986G= (p.Gly1329=) n.2660G= c.658G= (p.Glu220=) | |
| 15 | g.48474629C>G | CA392320619 | FBN1 | c.3986G>C (p.Gly1329Ala) n.2660G>C c.658G>C (p.Glu220Gln) | |
| 15 | g.48474629C>T | CA269520566 | FBN1 | c.3986G>A (p.Gly1329Glu) n.2660G>A c.658G>A (p.Glu220Lys) | dbSNP gnomAD v4 |
| 15 | g.48474630C>A | CA392320620 | FBN1 | c.3985G>T (p.Gly1329Ter) n.2659G>T c.657G>T (p.Leu219Phe) | |
| 15 | g.48474630C>G | CA392320621 | FBN1 | c.3985G>C (p.Gly1329Arg) n.2659G>C c.657G>C (p.Leu219Phe) | |
| 15 | g.48474630C>T | CA392320622 | FBN1 | c.3985G>A (p.Gly1329Arg) n.2659G>A c.657G>A (p.Leu219=) | gnomAD v4 |
| 15 | g.48474631A>C | CA392320623 | FBN1 | c.3984T>G (p.Ile1328Met) n.2658T>G c.656T>G (p.Leu219Trp) | |
| 15 | g.48474631A>G | CA490015311 | FBN1 | c.3984T>C (p.Ile1328=) n.2658T>C c.656T>C (p.Leu219Ser) | ClinVar |
| 15 | g.48474631A>T | CA490015312 | FBN1 | c.3984T>A (p.Ile1328=) n.2658T>A c.656T>A (p.Leu219Ter) |