| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48474556_48474561del | CA2695220638 | FBN1 | c.4054_4059del (p.Pro1352_Gly1353del) n.2728_2733del c.726_731del (p.Pro243_Gly244del) | |
| 15 | g.48474561del | CA658824323 | FBN1 | c.4056del (p.Trp1354GlyfsTer?) n.2730del c.728del (p.Pro243ArgfsTer8) | ClinVar dbSNP |
| 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) | |
| 15 | g.48474632A>C | CA392320624 | FBN1 | c.3983T>G (p.Ile1328Ser) n.2657T>G c.655T>G (p.Leu219Val) | |
| 15 | g.48474632A>G | CA392320625 | FBN1 | c.3983T>C (p.Ile1328Thr) n.2657T>C c.655T>C (p.Leu219=) | |
| 15 | g.48474632A>T | CA392320626 | FBN1 | c.3983T>A (p.Ile1328Asn) n.2657T>A c.655T>A (p.Leu219Met) | |
| 15 | g.48474633T>A | CA392320629 | FBN1 | c.3982A>T (p.Ile1328Phe) n.2656A>T c.654A>T (p.Lys218Asn) | gnomAD v4 |
| 15 | g.48474633T>C | CA392320627 | FBN1 | c.3982A>G (p.Ile1328Val) n.2656A>G c.654A>G (p.Lys218=) | |
| 15 | g.48474633T>G | CA392320628 | FBN1 | c.3982A>C (p.Ile1328Leu) n.2656A>C c.654A>C (p.Lys218Asn) | |
| 15 | g.48474634T>A | CA392320630 | FBN1 | c.3981A>T (p.Glu1327Asp) n.2655A>T c.653A>T (p.Lys218Ile) | |
| 15 | g.48474634T>C | CA490015314 | FBN1 | c.3981A>G (p.Glu1327=) n.2655A>G c.653A>G (p.Lys218Arg) | gnomAD v4 |
| 15 | g.48474634T>G | CA392320631 | FBN1 | c.3981A>C (p.Glu1327Asp) n.2655A>C c.653A>C (p.Lys218Thr) | ClinVar |
| 15 | g.48474635T>A | CA392320632 | FBN1 | c.3980A>T (p.Glu1327Val) n.2654A>T c.652A>T (p.Lys218Ter) | |
| 15 | g.48474635T>C | CA392320633 | FBN1 | c.3980A>G (p.Glu1327Gly) n.2654A>G c.652A>G (p.Lys218Glu) | |
| 15 | g.48474635T>G | CA392320634 | FBN1 | c.3980A>C (p.Glu1327Ala) n.2654A>C c.652A>C (p.Lys218Gln) | dbSNP |
| 15 | g.48474635T= | CA2175496419 | FBN1 | c.3980A= (p.Glu1327=) n.2654A= c.652A= (p.Lys218=) | |
| 15 | g.48474636C>A | CA392320635 | FBN1 | c.3979G>T (p.Glu1327Ter) n.2653G>T c.651G>T (p.Val217=) | |
| 15 | g.48474636C>G | CA392320636 | FBN1 | c.3979G>C (p.Glu1327Gln) n.2653G>C c.651G>C (p.Val217=) | |
| 15 | g.48474636C>T | CA392320637 | FBN1 | c.3979G>A (p.Glu1327Lys) n.2653G>A c.651G>A (p.Val217=) | COSMIC |
| 15 | g.48474637A>C | CA392320638 | FBN1 | c.3978T>G (p.Cys1326Trp) n.2652T>G c.650T>G (p.Val217Gly) | |
| 15 | g.48474637A>G | CA490015316 | FBN1 | c.3978T>C (p.Cys1326=) n.2652T>C c.650T>C (p.Val217Ala) | |
| 15 | g.48474637A>T | CA392320639 | FBN1 | c.3978T>A (p.Cys1326Ter) n.2652T>A c.650T>A (p.Val217Glu) | |
| 15 | g.48474638del | CA2573150764 | FBN1 | c.3977del (p.Cys1326LeufsTer?) n.2651del c.649del (p.Val217Ter) | ClinVar dbSNP |
| 15 | g.48474638C>A | CA392320640 | FBN1 | c.3977G>T (p.Cys1326Phe) n.2651G>T c.649G>T (p.Val217Leu) | |
| 15 | g.48474638C= | CA2175496429 | FBN1 | c.3977G= (p.Cys1326=) n.2651G= c.649G= (p.Val217=) | |
| 15 | g.48474638C>G | CA392320641 | FBN1 | c.3977G>C (p.Cys1326Ser) n.2651G>C c.649G>C (p.Val217Leu) | |
| 15 | g.48474638C>T | CA392320642 | FBN1 | c.3977G>A (p.Cys1326Tyr) n.2651G>A c.649G>A (p.Val217Met) | ClinVar dbSNP |
| 15 | g.48474639A= | CA2175496432 | FBN1 | c.3976T= (p.Cys1326=) n.2650T= c.648T= (p.Asn216=) | |
| 15 | g.48474639A>C | CA392320645 | FBN1 | c.3976T>G (p.Cys1326Gly) n.2650T>G c.648T>G (p.Asn216Lys) | |
| 15 | g.48474639A>G | CA392320644 | FBN1 | c.3976T>C (p.Cys1326Arg) n.2650T>C c.648T>C (p.Asn216=) | ClinVar dbSNP |
| 15 | g.48474639A>T | CA392320643 | FBN1 | c.3976T>A (p.Cys1326Ser) n.2650T>A c.648T>A (p.Asn216Lys) | |
| 15 | g.48474640T>A | CA392320646 | FBN1 | c.3975A>T (p.Glu1325Asp) n.2649A>T c.647A>T (p.Asn216Ile) | |
| 15 | g.48474640T>C | CA490015318 | FBN1 | c.3975A>G (p.Glu1325=) n.2649A>G c.647A>G (p.Asn216Ser) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48474640T>G | CA014679 | FBN1 | c.3975A>C (p.Glu1325Asp) n.2649A>C c.647A>C (p.Asn216Thr) | ClinVar dbSNP |
| 15 | g.48474640T= | CA2175496438 | FBN1 | c.3975A= (p.Glu1325=) n.2649A= c.647A= (p.Asn216=) | |
| 15 | g.48474641del | CA2580089718 | FBN1 | c.3975del (p.Glu1325AspfsTer?) n.2649del c.647del (p.Asn216MetfsTer2) | ClinVar |
| 15 | g.48474641T>A | CA392320647 | FBN1 | c.3974A>T (p.Glu1325Val) n.2648A>T c.646A>T (p.Asn216Tyr) | |
| 15 | g.48474641T>C | CA392320648 | FBN1 | c.3974A>G (p.Glu1325Gly) n.2648A>G c.646A>G (p.Asn216Asp) | |
| 15 | g.48474641T>G | CA014669 | FBN1 | c.3974A>C (p.Glu1325Ala) n.2648A>C c.646A>C (p.Asn216His) | ClinVar dbSNP |
| 15 | g.48474641T= | CA2175496445 | FBN1 | c.3974A= (p.Glu1325=) n.2648A= c.646A= (p.Asn216=) | |
| 15 | g.48474642C>A | CA392320649 | FBN1 | c.3973G>T (p.Glu1325Ter) n.2647G>T c.645G>T (p.Met215Ile) | ClinVar dbSNP |
| 15 | g.48474642C>G | CA392320650 | FBN1 | c.3973G>C (p.Glu1325Gln) n.2647G>C c.645G>C (p.Met215Ile) | |
| 15 | g.48474642C>T | CA392320651 | FBN1 | c.3973G>A (p.Glu1325Lys) n.2647G>A c.645G>A (p.Met215Ile) | |
| 15 | g.48474642dup | CA16614813 | FBN1 | c.3973dup (p.Glu1325GlyfsTer3) n.2647dup c.645dup (p.Asn216GlufsTer?) | ClinVar dbSNP |
| 15 | g.48474643A= | CA2175496461 | FBN1 | c.3972T= (p.Asn1324=) n.2646T= c.644T= (p.Met215=) | |
| 15 | g.48474643A>C | CA392320652 | FBN1 | c.3972T>G (p.Asn1324Lys) n.2646T>G c.644T>G (p.Met215Arg) | |
| 15 | g.48474643A>G | CA490015321 | FBN1 | c.3972T>C (p.Asn1324=) n.2646T>C c.644T>C (p.Met215Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48474643A>T | CA392320653 | FBN1 | c.3972T>A (p.Asn1324Lys) n.2646T>A c.644T>A (p.Met215Lys) | |
| 15 | g.48474644T>A | CA392320654 | FBN1 | c.3971A>T (p.Asn1324Ile) n.2645A>T c.643A>T (p.Met215Leu) | COSMIC |
| 15 | g.48474644T>C | CA051862 | FBN1 | c.3971A>G (p.Asn1324Ser) n.2645A>G c.643A>G (p.Met215Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474644T>G | CA392320655 | FBN1 | c.3971A>C (p.Asn1324Thr) n.2645A>C c.643A>C (p.Met215Leu) | ClinVar |
| 15 | g.48474644T= | CA2175496464 | FBN1 | c.3971A= (p.Asn1324=) n.2645A= c.643A= (p.Met215=) | |
| 15 | g.48474645T>A | CA392320657 | FBN1 | c.3970A>T (p.Asn1324Tyr) n.2644A>T c.642A>T (p.Ser214=) | |
| 15 | g.48474645T>C | CA051856 | FBN1 | c.3970A>G (p.Asn1324Asp) n.2644A>G c.642A>G (p.Ser214=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474645T>G | CA392320656 | FBN1 | c.3970A>C (p.Asn1324His) n.2644A>C c.642A>C (p.Ser214=) | |
| 15 | g.48474645T= | CA2175496471 | FBN1 | c.3970A= (p.Asn1324=) n.2644A= c.642A= (p.Ser214=) | |
| 15 | g.48474646del | CA2695220645 | FBN1 | c.3969del (p.Asn1324MetfsTer?) n.2643del c.641del (p.Ser214Ter) | |
| 15 | g.48474646G>A | CA051847 | FBN1 | c.3969C>T (p.Ile1323=) n.2643C>T c.641C>T (p.Ser214Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474646G>C | CA392320658 | FBN1 | c.3969C>G (p.Ile1323Met) n.2643C>G c.641C>G (p.Ser214Ter) | gnomAD v4 |
| 15 | g.48474646G= | CA2175496479 | FBN1 | c.3969C= (p.Ile1323=) n.2643C= c.641C= (p.Ser214=) | |
| 15 | g.48474646G>T | CA490015323 | FBN1 | c.3969C>A (p.Ile1323=) n.2643C>A c.641C>A (p.Ser214Ter) | ClinVar dbSNP |
| 15 | g.48474647A>C | CA392320659 | FBN1 | c.3968T>G (p.Ile1323Ser) n.2642T>G c.640T>G (p.Ser214Ala) | |
| 15 | g.48474647A>G | CA392320660 | FBN1 | c.3968T>C (p.Ile1323Thr) n.2642T>C c.640T>C (p.Ser214Pro) | |
| 15 | g.48474647A>T | CA392320661 | FBN1 | c.3968T>A (p.Ile1323Asn) n.2642T>A c.640T>A (p.Ser214Thr) | |
| 15 | g.48474648T>A | CA392320662 | FBN1 | c.3967A>T (p.Ile1323Phe) n.2641A>T c.639A>T (p.Thr213=) | dbSNP |
| 15 | g.48474648T>C | CA392320663 | FBN1 | c.3967A>G (p.Ile1323Val) n.2641A>G c.639A>G (p.Thr213=) | gnomAD v4 |
| 15 | g.48474648T>G | CA392320664 | FBN1 | c.3967A>C (p.Ile1323Leu) n.2641A>C c.639A>C (p.Thr213=) | |
| 15 | g.48474648T= | CA2175496494 | FBN1 | c.3967A= (p.Ile1323=) n.2641A= c.639A= (p.Thr213=) | |
| 15 | g.48474649G>A | CA490015327 | FBN1 | c.3966C>T (p.Asp1322=) n.2640C>T c.638C>T (p.Thr213Ile) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48474649G>C | CA392320665 | FBN1 | c.3966C>G (p.Asp1322Glu) n.2640C>G c.638C>G (p.Thr213Arg) | ClinVar |
| 15 | g.48474649G>T | CA392320666 | FBN1 | c.3966C>A (p.Asp1322Glu) n.2640C>A c.638C>A (p.Thr213Lys) | |
| 15 | g.48474650T>A | CA392320667 | FBN1 | c.3965A>T (p.Asp1322Val) n.2639A>T c.637A>T (p.Thr213Ser) | |
| 15 | g.48474650T>C | CA392320668 | FBN1 | c.3965A>G (p.Asp1322Gly) n.2639A>G c.637A>G (p.Thr213Ala) | ClinVar dbSNP |
| 15 | g.48474650T>G | CA392320669 | FBN1 | c.3965A>C (p.Asp1322Ala) n.2639A>C c.637A>C (p.Thr213Pro) | |
| 15 | g.48474650T= | CA2175496502 | FBN1 | c.3965A= (p.Asp1322=) n.2639A= c.637A= (p.Thr213=) | |
| 15 | g.48474651C>A | CA392320672 | FBN1 | c.3965-1G>T (n.3965-1G>T) n.2639-1G>T c.637-1G>T (n.637-1G>T) | |
| 15 | g.48474651C>G | CA392320671 | FBN1 | c.3965-1G>C (n.3965-1G>C) n.2639-1G>C c.637-1G>C (n.637-1G>C) | |
| 15 | g.48474651C>T | CA392320670 | FBN1 | c.3965-1G>A (n.3965-1G>A) n.2639-1G>A c.637-1G>A (n.637-1G>A) | |
| 15 | g.48474652T>A | CA014647 | FBN1 | c.3965-2A>T (n.3965-2A>T) n.2639-2A>T c.637-2A>T (n.637-2A>T) | ClinVar dbSNP |
| 15 | g.48474652T>C | CA392320673 | FBN1 | c.3965-2A>G (n.3965-2A>G) n.2639-2A>G c.637-2A>G (n.637-2A>G) | |
| 15 | g.48474652T>G | CA392320674 | FBN1 | c.3965-2A>C (n.3965-2A>C) n.2639-2A>C c.637-2A>C (n.637-2A>C) | |
| 15 | g.48474652T= | CA2175496510 | FBN1 | c.3965-2A= (n.3965-2A=) n.2639-2A= c.637-2A= (n.637-2A=) | |
| 15 | g.48474653G>C | CA2580089720 | FBN1 | c.3965-3C>G (n.3965-3C>G) n.2639-3C>G c.637-3C>G (n.637-3C>G) | ClinVar |
| 15 | g.48474655A= | CA2175496516 | FBN1 | c.3965-5T= (n.3965-5T=) n.2639-5T= c.637-5T= (n.637-5T=) | |
| 15 | g.48474655A>G | CA2175496522 | FBN1 | c.3965-5T>C (n.3965-5T>C) n.2639-5T>C c.637-5T>C (n.637-5T>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48474655A>T | CA2825002286 | FBN1 | c.3965-5T>A (n.3965-5T>A) n.2639-5T>A c.637-5T>A (n.637-5T>A) | ClinVar |
| 15 | g.48474658A= | CA2175496526 | FBN1 | c.3965-8T= (n.3965-8T=) n.2639-8T= c.637-8T= (n.637-8T=) | |
| 15 | g.48474658A>G | CA014660 | FBN1 | c.3965-8T>C (n.3965-8T>C) n.2639-8T>C c.637-8T>C (n.637-8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474660T>C | CA2628334528 | FBN1 | c.3965-10A>G (n.3965-10A>G) n.2639-10A>G c.637-10A>G (n.637-10A>G) | ClinVar gnomAD v4 |
| 15 | g.48474661G>A | CA2575717308 | FBN1 | c.3965-11C>T (n.3965-11C>T) n.2639-11C>T c.637-11C>T (n.637-11C>T) | gnomAD v4 |
| 15 | g.48474661G>C | CA2575717309 | FBN1 | c.3965-11C>G (n.3965-11C>G) n.2639-11C>G c.637-11C>G (n.637-11C>G) | |
| 15 | g.48474661G= | CA2175496530 | FBN1 | c.3965-11C= (n.3965-11C=) n.2639-11C= c.637-11C= (n.637-11C=) | |
| 15 | g.48474661G>T | CA051782 | FBN1 | c.3965-11C>A (n.3965-11C>A) n.2639-11C>A c.637-11C>A (n.637-11C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |