| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48468436T>A | CA392353389 | FBN1 | c.4558A>T (p.Asn1520Tyr) n.3232A>T c.*321A>T (n.*321A>T) | |
| 15 | g.48468436T>C | CA392353390 | FBN1 | c.4558A>G (p.Asn1520Asp) n.3232A>G c.*321A>G (n.*321A>G) | |
| 15 | g.48468436T>G | CA392353392 | FBN1 | c.4558A>C (p.Asn1520His) n.3232A>C c.*321A>C (n.*321A>C) | |
| 15 | g.48468437C>A | CA490027392 | FBN1 | c.4557G>T (p.Leu1519=) n.3231G>T c.*320G>T (n.*320G>T) | |
| 15 | g.48468437C= | CA2175518417 | FBN1 | c.4557G= (p.Leu1519=) n.3231G= c.*320G= (n.*320G=) | |
| 15 | g.48468437C>G | CA490027394 | FBN1 | c.4557G>C (p.Leu1519=) n.3231G>C c.*320G>C (n.*320G>C) | |
| 15 | g.48468437C>T | CA490027397 | FBN1 | c.4557G>A (p.Leu1519=) n.3231G>A c.*320G>A (n.*320G>A) | dbSNP |
| 15 | g.48468438A>C | CA392353395 | FBN1 | c.4556T>G (p.Leu1519Arg) n.3230T>G c.*319T>G (n.*319T>G) | |
| 15 | g.48468438A>G | CA392353396 | FBN1 | c.4556T>C (p.Leu1519Pro) n.3230T>C c.*319T>C (n.*319T>C) | |
| 15 | g.48468438A>T | CA392353398 | FBN1 | c.4556T>A (p.Leu1519Gln) n.3230T>A c.*319T>A (n.*319T>A) | |
| 15 | g.48468438_48468439delinsAG | CA2175518418 | FBN1 | c.4555_4556delinsCT (p.Leu1519=) n.3229_3230delinsCT c.*318_*319delinsCT (n.*318_*319delinsCT) | |
| 15 | g.48468439del | CA658656482 | FBN1 | c.4555del (p.Leu1519Ter) n.3229del c.*318del (n.*318del) | ClinVar dbSNP |
| 15 | g.48468439G>A | CA490027402 | FBN1 | c.4555C>T (p.Leu1519=) n.3229C>T c.*318C>T (n.*318C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48468439G>C | CA392353399 | FBN1 | c.4555C>G (p.Leu1519Val) n.3229C>G c.*318C>G (n.*318C>G) | gnomAD v4 |
| 15 | g.48468439G= | CA2175518419 | FBN1 | c.4555C= (p.Leu1519=) n.3229C= c.*318C= (n.*318C=) | |
| 15 | g.48468439G>T | CA392353400 | FBN1 | c.4555C>A (p.Leu1519Met) n.3229C>A c.*318C>A (n.*318C>A) | |
| 15 | g.48468440T>A | CA392353401 | FBN1 | c.4554A>T (p.Glu1518Asp) n.3228A>T c.*317A>T (n.*317A>T) | |
| 15 | g.48468440T>C | CA053248 | FBN1 | c.4554A>G (p.Glu1518=) n.3228A>G c.*317A>G (n.*317A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48468440T>G | CA392353405 | FBN1 | c.4554A>C (p.Glu1518Asp) n.3228A>C c.*317A>C (n.*317A>C) | |
| 15 | g.48468440T= | CA2175518420 | FBN1 | c.4554A= (p.Glu1518=) n.3228A= c.*317A= (n.*317A=) | |
| 15 | g.48468441T>A | CA392353413 | FBN1 | c.4553A>T (p.Glu1518Val) n.3227A>T c.*316A>T (n.*316A>T) | |
| 15 | g.48468441T>C | CA392353410 | FBN1 | c.4553A>G (p.Glu1518Gly) n.3227A>G c.*316A>G (n.*316A>G) | |
| 15 | g.48468441T>G | CA392353408 | FBN1 | c.4553A>C (p.Glu1518Ala) n.3227A>C c.*316A>C (n.*316A>C) | |
| 15 | g.48468442C>A | CA392353416 | FBN1 | c.4552G>T (p.Glu1518Ter) n.3226G>T c.*315G>T (n.*315G>T) | |
| 15 | g.48468442C>G | CA392353418 | FBN1 | c.4552G>C (p.Glu1518Gln) n.3226G>C c.*315G>C (n.*315G>C) | |
| 15 | g.48468442C>T | CA392353420 | FBN1 | c.4552G>A (p.Glu1518Lys) n.3226G>A c.*315G>A (n.*315G>A) | |
| 15 | g.48468442_48468443delinsCA | CA2175518421 | FBN1 | c.4551_4552delinsTG (p.Phe1517=) n.3225_3226delinsTG c.*314_*315delinsTG (n.*314_*315delinsTG) | |
| 15 | g.48468443A>C | CA392353423 | FBN1 | c.4551T>G (p.Phe1517Leu) n.3225T>G c.*314T>G (n.*314T>G) | |
| 15 | g.48468443A>G | CA490027416 | FBN1 | c.4551T>C (p.Phe1517=) n.3225T>C c.*314T>C (n.*314T>C) | |
| 15 | g.48468443A>T | CA392353424 | FBN1 | c.4551T>A (p.Phe1517Leu) n.3225T>A c.*314T>A (n.*314T>A) | gnomAD v4 |
| 15 | g.48468446del | CA658683897 | FBN1 | c.4551del (p.Phe1517LeufsTer3) n.3225del c.*314del (n.*314del) | ClinVar dbSNP |
| 15 | g.48468444A= | CA2175518422 | FBN1 | c.4550T= (p.Phe1517=) n.3224T= c.*313T= (n.*313T=) | |
| 15 | g.48468444A>C | CA392353426 | FBN1 | c.4550T>G (p.Phe1517Cys) n.3224T>G c.*313T>G (n.*313T>G) | |
| 15 | g.48468444A>G | CA392353429 | FBN1 | c.4550T>C (p.Phe1517Ser) n.3224T>C c.*313T>C (n.*313T>C) | ClinVar dbSNP |
| 15 | g.48468444A>T | CA392353430 | FBN1 | c.4550T>A (p.Phe1517Tyr) n.3224T>A c.*313T>A (n.*313T>A) | |
| 15 | g.48468445A>C | CA392353432 | FBN1 | c.4549T>G (p.Phe1517Val) n.3223T>G c.*312T>G (n.*312T>G) | |
| 15 | g.48468445A>G | CA392353433 | FBN1 | c.4549T>C (p.Phe1517Leu) n.3223T>C c.*312T>C (n.*312T>C) | |
| 15 | g.48468445A>T | CA392353434 | FBN1 | c.4549T>A (p.Phe1517Ile) n.3223T>A c.*312T>A (n.*312T>A) | ClinVar |
| 15 | g.48468446A= | CA2175518423 | FBN1 | c.4548T= (p.Asp1516=) n.3222T= c.*311T= (n.*311T=) | |
| 15 | g.48468446A>C | CA392353435 | FBN1 | c.4548T>G (p.Asp1516Glu) n.3222T>G c.*311T>G (n.*311T>G) | ClinVar dbSNP |
| 15 | g.48468446A>G | CA490027428 | FBN1 | c.4548T>C (p.Asp1516=) n.3222T>C c.*311T>C (n.*311T>C) | |
| 15 | g.48468446A>T | CA392353437 | FBN1 | c.4548T>A (p.Asp1516Glu) n.3222T>A c.*311T>A (n.*311T>A) | |
| 15 | g.48468447T>A | CA392353441 | FBN1 | c.4547A>T (p.Asp1516Val) n.3221A>T c.*310A>T (n.*310A>T) | |
| 15 | g.48468447T>C | CA392353442 | FBN1 | c.4547A>G (p.Asp1516Gly) n.3221A>G c.*310A>G (n.*310A>G) | |
| 15 | g.48468447T>G | CA392353439 | FBN1 | c.4547A>C (p.Asp1516Ala) n.3221A>C c.*310A>C (n.*310A>C) | |
| 15 | g.48468448C>A | CA392353451 | FBN1 | c.4546G>T (p.Asp1516Tyr) n.3220G>T c.*309G>T (n.*309G>T) | |
| 15 | g.48468448C>G | CA392353446 | FBN1 | c.4546G>C (p.Asp1516His) n.3220G>C c.*309G>C (n.*309G>C) | |
| 15 | g.48468448C>T | CA392353448 | FBN1 | c.4546G>A (p.Asp1516Asn) n.3220G>A c.*309G>A (n.*309G>A) | |
| 15 | g.48468448_48468450delinsATCT | CA2695220599 | FBN1 | c.4544_4546delinsAGAT (p.Pro1515GlnfsTer4) n.3218_3220delinsAGAT c.*307_*309delinsAGAT (n.*307_*309delinsAGAT) | ClinVar |
| 15 | g.48468449A>C | CA490027433 | FBN1 | c.4545T>G (p.Pro1515=) n.3219T>G c.*308T>G (n.*308T>G) | |
| 15 | g.48468449A>G | CA490027434 | FBN1 | c.4545T>C (p.Pro1515=) n.3219T>C c.*308T>C (n.*308T>C) | ClinVar |
| 15 | g.48468449A>T | CA490027436 | FBN1 | c.4545T>A (p.Pro1515=) n.3219T>A c.*308T>A (n.*308T>A) | |
| 15 | g.48468450G>A | CA392353453 | FBN1 | c.4544C>T (p.Pro1515Leu) n.3218C>T c.*307C>T (n.*307C>T) | |
| 15 | g.48468450G>C | CA053229 | FBN1 | c.4544C>G (p.Pro1515Arg) n.3218C>G c.*307C>G (n.*307C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48468450G= | CA2175518424 | FBN1 | c.4544C= (p.Pro1515=) n.3218C= c.*307C= (n.*307C=) | |
| 15 | g.48468450G>T | CA392353457 | FBN1 | c.4544C>A (p.Pro1515His) n.3218C>A c.*307C>A (n.*307C>A) | |
| 15 | g.48468451G>A | CA392353458 | FBN1 | c.4543C>T (p.Pro1515Ser) n.3217C>T c.*306C>T (n.*306C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48468451G>C | CA392353459 | FBN1 | c.4543C>G (p.Pro1515Ala) n.3217C>G c.*306C>G (n.*306C>G) | |
| 15 | g.48468451G= | CA2175518425 | FBN1 | c.4543C= (p.Pro1515=) n.3217C= c.*306C= (n.*306C=) | |
| 15 | g.48468451G>T | CA392353461 | FBN1 | c.4543C>A (p.Pro1515Thr) n.3217C>A c.*306C>A (n.*306C>A) | |
| 15 | g.48468452T>A | CA490027444 | FBN1 | c.4542A>T (p.Pro1514=) n.3216A>T c.*305A>T (n.*305A>T) | |
| 15 | g.48468452T>C | CA490027448 | FBN1 | c.4542A>G (p.Pro1514=) n.3216A>G c.*305A>G (n.*305A>G) | |
| 15 | g.48468452T>G | CA490027445 | FBN1 | c.4542A>C (p.Pro1514=) n.3216A>C c.*305A>C (n.*305A>C) | |
| 15 | g.48468453G>A | CA053215 | FBN1 | c.4541C>T (p.Pro1514Leu) n.3215C>T c.*304C>T (n.*304C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48468453G>C | CA392353467 | FBN1 | c.4541C>G (p.Pro1514Arg) n.3215C>G c.*304C>G (n.*304C>G) | |
| 15 | g.48468453G= | CA2175518426 | FBN1 | c.4541C= (p.Pro1514=) n.3215C= c.*304C= (n.*304C=) | |
| 15 | g.48468453G>T | CA392353464 | FBN1 | c.4541C>A (p.Pro1514Gln) n.3215C>A c.*304C>A (n.*304C>A) | |
| 15 | g.48468454G>A | CA392353469 | FBN1 | c.4540C>T (p.Pro1514Ser) n.3214C>T c.*303C>T (n.*303C>T) | |
| 15 | g.48468454G>C | CA392353471 | FBN1 | c.4540C>G (p.Pro1514Ala) n.3214C>G c.*303C>G (n.*303C>G) | dbSNP |
| 15 | g.48468454G= | CA2175518427 | FBN1 | c.4540C= (p.Pro1514=) n.3214C= c.*303C= (n.*303C=) | |
| 15 | g.48468454G>T | CA392353473 | FBN1 | c.4540C>A (p.Pro1514Thr) n.3214C>A c.*303C>A (n.*303C>A) | |
| 15 | g.48468455G>A | CA490027456 | FBN1 | c.4539C>T (p.Cys1513=) n.3213C>T c.*302C>T (n.*302C>T) | gnomAD v4 |
| 15 | g.48468455G>C | CA392353476 | FBN1 | c.4539C>G (p.Cys1513Trp) n.3213C>G c.*302C>G (n.*302C>G) | ClinVar dbSNP |
| 15 | g.48468455G= | CA2175518428 | FBN1 | c.4539C= (p.Cys1513=) n.3213C= c.*302C= (n.*302C=) | |
| 15 | g.48468455G>T | CA392353478 | FBN1 | c.4539C>A (p.Cys1513Ter) n.3213C>A c.*302C>A (n.*302C>A) | |
| 15 | g.48468456C>A | CA392353480 | FBN1 | c.4538G>T (p.Cys1513Phe) n.3212G>T c.*301G>T (n.*301G>T) | ClinVar dbSNP |
| 15 | g.48468456C= | CA2175518429 | FBN1 | c.4538G= (p.Cys1513=) n.3212G= c.*301G= (n.*301G=) | |
| 15 | g.48468456C>G | CA392353485 | FBN1 | c.4538G>C (p.Cys1513Ser) n.3212G>C c.*301G>C (n.*301G>C) | |
| 15 | g.48468456C>T | CA392353481 | FBN1 | c.4538G>A (p.Cys1513Tyr) n.3212G>A c.*301G>A (n.*301G>A) | ClinVar dbSNP |
| 15 | g.48468457A= | CA2175518430 | FBN1 | c.4537T= (p.Cys1513=) n.3211T= c.*300T= (n.*300T=) | |
| 15 | g.48468457A>C | CA269552303 | FBN1 | c.4537T>G (p.Cys1513Gly) n.3211T>G c.*300T>G (n.*300T>G) | ClinVar dbSNP |
| 15 | g.48468457A>G | CA269552306 | FBN1 | c.4537T>C (p.Cys1513Arg) n.3211T>C c.*300T>C (n.*300T>C) | dbSNP |
| 15 | g.48468457A>T | CA392353490 | FBN1 | c.4537T>A (p.Cys1513Ser) n.3211T>A c.*300T>A (n.*300T>A) | |
| 15 | g.48468457_48468458delinsCT | CA2695220600 | FBN1 | c.4536_4537delinsAG (p.Asp1512_Cys1513delinsGluGly) n.3210_3211delinsAG c.*299_*300delinsAG (n.*299_*300delinsAG) | |
| 15 | g.48468458G>A | CA490027457 | FBN1 | c.4536C>T (p.Asp1512=) n.3210C>T c.*299C>T (n.*299C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48468458G>C | CA392353492 | FBN1 | c.4536C>G (p.Asp1512Glu) n.3210C>G c.*299C>G (n.*299C>G) | |
| 15 | g.48468458G= | CA2175518431 | FBN1 | c.4536C= (p.Asp1512=) n.3210C= c.*299C= (n.*299C=) | |
| 15 | g.48468458G>T | CA392353494 | FBN1 | c.4536C>A (p.Asp1512Glu) n.3210C>A c.*299C>A (n.*299C>A) | |
| 15 | g.48468459T>A | CA392353499 | FBN1 | c.4535A>T (p.Asp1512Val) n.3209A>T c.*298A>T (n.*298A>T) | |
| 15 | g.48468459T>C | CA392353501 | FBN1 | c.4535A>G (p.Asp1512Gly) n.3209A>G c.*298A>G (n.*298A>G) | |
| 15 | g.48468459T>G | CA392353503 | FBN1 | c.4535A>C (p.Asp1512Ala) n.3209A>C c.*298A>C (n.*298A>C) | |
| 15 | g.48468459_48468463delinsTCACA | CA2175518432 | FBN1 | c.4531_4535delinsTGTGA (p.Cys1511=) n.3205_3209delinsTGTGA c.*294_*298delinsTGTGA (n.*294_*298delinsTGTGA) | |
| 15 | g.48468460C>A | CA392353506 | FBN1 | c.4534G>T (p.Asp1512Tyr) n.3208G>T c.*297G>T (n.*297G>T) | |
| 15 | g.48468460C>G | CA392353507 | FBN1 | c.4534G>C (p.Asp1512His) n.3208G>C c.*297G>C (n.*297G>C) | |
| 15 | g.48468460C>T | CA392353508 | FBN1 | c.4534G>A (p.Asp1512Asn) n.3208G>A c.*297G>A (n.*297G>A) | |
| 15 | g.48468460_48468463del | CA658656483 | FBN1 | c.4531_4534del (p.Cys1511ThrfsTer8) n.3205_3208del c.*294_*297del (n.*294_*297del) | ClinVar dbSNP |
| 15 | g.48468461A>C | CA392353509 | FBN1 | c.4533T>G (p.Cys1511Trp) n.3207T>G c.*296T>G (n.*296T>G) | |
| 15 | g.48468461A>G | CA490027459 | FBN1 | c.4533T>C (p.Cys1511=) n.3207T>C c.*296T>C (n.*296T>C) | |
| 15 | g.48468461A>T | CA392353510 | FBN1 | c.4533T>A (p.Cys1511Ter) n.3207T>A c.*296T>A (n.*296T>A) | |
| 15 | g.48468462del | CA2580089679 | FBN1 | c.4532del (p.Cys1511LeufsTer9) n.3206del c.*295del (n.*295del) | ClinVar |
| 15 | g.48468462C>A | CA392353513 | FBN1 | c.4532G>T (p.Cys1511Phe) n.3206G>T c.*295G>T (n.*295G>T) | |
| 15 | g.48468462C= | CA2175518433 | FBN1 | c.4532G= (p.Cys1511=) n.3206G= c.*295G= (n.*295G=) | |
| 15 | g.48468462C>G | CA392353514 | FBN1 | c.4532G>C (p.Cys1511Ser) n.3206G>C c.*295G>C (n.*295G>C) | |
| 15 | g.48468462C>T | CA16614510 | FBN1 | c.4532G>A (p.Cys1511Tyr) n.3206G>A c.*295G>A (n.*295G>A) | ClinVar dbSNP |
| 15 | g.48468463A= | CA2175518434 | FBN1 | c.4531T= (p.Cys1511=) n.3205T= c.*294T= (n.*294T=) | |
| 15 | g.48468463A>C | CA392353515 | FBN1 | c.4531T>G (p.Cys1511Gly) n.3205T>G c.*294T>G (n.*294T>G) | ClinVar dbSNP |
| 15 | g.48468463A>G | CA015175 | FBN1 | c.4531T>C (p.Cys1511Arg) n.3205T>C c.*294T>C (n.*294T>C) | ClinVar dbSNP |
| 15 | g.48468463A>T | CA392353517 | FBN1 | c.4531T>A (p.Cys1511Ser) n.3205T>A c.*294T>A (n.*294T>A) | |
| 15 | g.48468464G>A | CA053204 | FBN1 | c.4530C>T (p.Ile1510=) n.3204C>T c.*293C>T (n.*293C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48468464G>C | CA392353520 | FBN1 | c.4530C>G (p.Ile1510Met) n.3204C>G c.*293C>G (n.*293C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48468464G= | CA2175518435 | FBN1 | c.4530C= (p.Ile1510=) n.3204C= c.*293C= (n.*293C=) | |
| 15 | g.48468464G>T | CA490027462 | FBN1 | c.4530C>A (p.Ile1510=) n.3204C>A c.*293C>A (n.*293C>A) | |
| 15 | g.48468465A>C | CA392353526 | FBN1 | c.4529T>G (p.Ile1510Ser) n.3203T>G c.*292T>G (n.*292T>G) | |
| 15 | g.48468465A>G | CA392353524 | FBN1 | c.4529T>C (p.Ile1510Thr) n.3203T>C c.*292T>C (n.*292T>C) | dbSNP |
| 15 | g.48468465A>T | CA392353522 | FBN1 | c.4529T>A (p.Ile1510Asn) n.3203T>A c.*292T>A (n.*292T>A) | |
| 15 | g.48468466T>A | CA392353527 | FBN1 | c.4528A>T (p.Ile1510Phe) n.3202A>T c.*291A>T (n.*291A>T) | |
| 15 | g.48468466T>C | CA392353531 | FBN1 | c.4528A>G (p.Ile1510Val) n.3202A>G c.*291A>G (n.*291A>G) | gnomAD v4 |
| 15 | g.48468466T>G | CA392353533 | FBN1 | c.4528A>C (p.Ile1510Leu) n.3202A>C c.*291A>C (n.*291A>C) | |
| 15 | g.48468467A= | CA2175518436 | FBN1 | c.4527T= (p.Tyr1509=) n.3201T= c.*290T= (n.*290T=) | |
| 15 | g.48468467A>C | CA392353535 | FBN1 | c.4527T>G (p.Tyr1509Ter) n.3201T>G c.*290T>G (n.*290T>G) | |
| 15 | g.48468467A>G | CA053194 | FBN1 | c.4527T>C (p.Tyr1509=) n.3201T>C c.*290T>C (n.*290T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468467A>T | CA392353536 | FBN1 | c.4527T>A (p.Tyr1509Ter) n.3201T>A c.*290T>A (n.*290T>A) | |
| 15 | g.48468467dup | CA2695220602 | FBN1 | c.4527dup (p.Ile1510TyrfsTer3) n.3201dup c.*290dup (n.*290dup) | |
| 15 | g.48468467_48468470del | CA2695220601 | FBN1 | c.4524_4527del (p.Ser1508ArgfsTer11) n.3198_3201del c.*287_*290del (n.*287_*290del) | |
| 15 | g.48468468T>A | CA392353538 | FBN1 | c.4526A>T (p.Tyr1509Phe) n.3200A>T c.*289A>T (n.*289A>T) | |
| 15 | g.48468468T>C | CA015164 | FBN1 | c.4526A>G (p.Tyr1509Cys) n.3200A>G c.*289A>G (n.*289A>G) | ClinVar dbSNP COSMIC |
| 15 | g.48468468T>G | CA392353540 | FBN1 | c.4526A>C (p.Tyr1509Ser) n.3200A>C c.*289A>C (n.*289A>C) | |
| 15 | g.48468468T= | CA2175518437 | FBN1 | c.4526A= (p.Tyr1509=) n.3200A= c.*289A= (n.*289A=) | |
| 15 | g.48468469A>C | CA392353542 | FBN1 | c.4525T>G (p.Tyr1509Asp) n.3199T>G c.*288T>G (n.*288T>G) | ClinVar |
| 15 | g.48468469A>G | CA392353544 | FBN1 | c.4525T>C (p.Tyr1509His) n.3199T>C c.*288T>C (n.*288T>C) | gnomAD v4 |
| 15 | g.48468469A>T | CA392353546 | FBN1 | c.4525T>A (p.Tyr1509Asn) n.3199T>A c.*288T>A (n.*288T>A) | |
| 15 | g.48468470G>A | CA490027468 | FBN1 | c.4524C>T (p.Ser1508=) n.3198C>T c.*287C>T (n.*287C>T) | |
| 15 | g.48468470G>C | CA392353549 | FBN1 | c.4524C>G (p.Ser1508Arg) n.3198C>G c.*287C>G (n.*287C>G) | |
| 15 | g.48468470G>T | CA392353554 | FBN1 | c.4524C>A (p.Ser1508Arg) n.3198C>A c.*287C>A (n.*287C>A) | |
| 15 | g.48468471C>A | CA392353559 | FBN1 | c.4523G>T (p.Ser1508Ile) n.3197G>T c.*286G>T (n.*286G>T) | ClinVar dbSNP |
| 15 | g.48468471C= | CA2175518438 | FBN1 | c.4523G= (p.Ser1508=) n.3197G= c.*286G= (n.*286G=) | |
| 15 | g.48468471C>G | CA392353561 | FBN1 | c.4523G>C (p.Ser1508Thr) n.3197G>C c.*286G>C (n.*286G>C) | |
| 15 | g.48468471C>T | CA392353563 | FBN1 | c.4523G>A (p.Ser1508Asn) n.3197G>A c.*286G>A (n.*286G>A) | |
| 15 | g.48468472T>A | CA392353564 | FBN1 | c.4522A>T (p.Ser1508Cys) n.3196A>T c.*285A>T (n.*285A>T) | |
| 15 | g.48468472T>C | CA392353565 | FBN1 | c.4522A>G (p.Ser1508Gly) n.3196A>G c.*285A>G (n.*285A>G) | |
| 15 | g.48468472T>G | CA392353566 | FBN1 | c.4522A>C (p.Ser1508Arg) n.3196A>C c.*285A>C (n.*285A>C) | |
| 15 | g.48468473G>A | CA490027472 | FBN1 | c.4521C>T (p.Gly1507=) n.3195C>T c.*284C>T (n.*284C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468473G>C | CA490027473 | FBN1 | c.4521C>G (p.Gly1507=) n.3195C>G c.*284C>G (n.*284C>G) | |
| 15 | g.48468473G= | CA2175518439 | FBN1 | c.4521C= (p.Gly1507=) n.3195C= c.*284C= (n.*284C=) | |
| 15 | g.48468473G>T | CA490027474 | FBN1 | c.4521C>A (p.Gly1507=) n.3195C>A c.*284C>A (n.*284C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468474C>A | CA392353568 | FBN1 | c.4520G>T (p.Gly1507Val) n.3194G>T c.*283G>T (n.*283G>T) | ClinVar dbSNP |
| 15 | g.48468474C= | CA2175518440 | FBN1 | c.4520G= (p.Gly1507=) n.3194G= c.*283G= (n.*283G=) | |
| 15 | g.48468474C>G | CA392353572 | FBN1 | c.4520G>C (p.Gly1507Ala) n.3194G>C c.*283G>C (n.*283G>C) | |
| 15 | g.48468474C>T | CA015156 | FBN1 | c.4520G>A (p.Gly1507Asp) n.3194G>A c.*283G>A (n.*283G>A) | ClinVar dbSNP |
| 15 | g.48468475C>A | CA392353574 | FBN1 | c.4519G>T (p.Gly1507Cys) n.3193G>T c.*282G>T (n.*282G>T) | |
| 15 | g.48468475C>G | CA392353578 | FBN1 | c.4519G>C (p.Gly1507Arg) n.3193G>C c.*282G>C (n.*282G>C) | |
| 15 | g.48468475C>T | CA392353576 | FBN1 | c.4519G>A (p.Gly1507Ser) n.3193G>A c.*282G>A (n.*282G>A) | |
| 15 | g.48468476T>A | CA490027476 | FBN1 | c.4518A>T (p.Pro1506=) n.3192A>T c.*281A>T (n.*281A>T) | |
| 15 | g.48468476T>C | CA490027477 | FBN1 | c.4518A>G (p.Pro1506=) n.3192A>G c.*281A>G (n.*281A>G) | gnomAD v4 |
| 15 | g.48468476T>G | CA490027478 | FBN1 | c.4518A>C (p.Pro1506=) n.3192A>C c.*281A>C (n.*281A>C) | |
| 15 | g.48468476_48468479delinsCACTGATGCAC | CA2695220603 | FBN1 | c.4515_4518delinsGTGCATCAGTG (p.Pro1506CysfsTer9) n.3189_3192delinsGTGCATCAGTG c.*278_*281delinsGTGCATCAGTG (n.*278_*281delinsGTGCATCAGTG) | |
| 15 | g.48468477G>A | CA392353579 | FBN1 | c.4517C>T (p.Pro1506Leu) n.3191C>T c.*280C>T (n.*280C>T) | gnomAD v4 |
| 15 | g.48468477G>C | CA392353581 | FBN1 | c.4517C>G (p.Pro1506Arg) n.3191C>G c.*280C>G (n.*280C>G) | gnomAD v4 |
| 15 | g.48468477G>T | CA392353582 | FBN1 | c.4517C>A (p.Pro1506Gln) n.3191C>A c.*280C>A (n.*280C>A) | |
| 15 | g.48468478del | CA2499222991 | FBN1 | c.4517del (p.Pro1506GlnfsTer14) n.3191del c.*280del (n.*280del) | ClinVar dbSNP |
| 15 | g.48468478G>A | CA015149 | FBN1 | c.4516C>T (p.Pro1506Ser) n.3190C>T c.*279C>T (n.*279C>T) | ClinVar dbSNP |
| 15 | g.48468478G>C | CA269552369 | FBN1 | c.4516C>G (p.Pro1506Ala) n.3190C>G c.*279C>G (n.*279C>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468478G= | CA2175518441 | FBN1 | c.4516C= (p.Pro1506=) n.3190C= c.*279C= (n.*279C=) | |
| 15 | g.48468478G>T | CA392353583 | FBN1 | c.4516C>A (p.Pro1506Thr) n.3190C>A c.*279C>A (n.*279C>A) | ClinVar |
| 15 | g.48468479A>C | CA490027483 | FBN1 | c.4515T>G (p.Thr1505=) n.3189T>G c.*278T>G (n.*278T>G) | |
| 15 | g.48468479A>G | CA490027484 | FBN1 | c.4515T>C (p.Thr1505=) n.3189T>C c.*278T>C (n.*278T>C) | |
| 15 | g.48468479A>T | CA490027485 | FBN1 | c.4515T>A (p.Thr1505=) n.3189T>A c.*278T>A (n.*278T>A) | ClinVar gnomAD v4 |
| 15 | g.48468480G>A | CA392353586 | FBN1 | c.4514C>T (p.Thr1505Ile) n.3188C>T c.*277C>T (n.*277C>T) | |
| 15 | g.48468480G>C | CA392353587 | FBN1 | c.4514C>G (p.Thr1505Ser) n.3188C>G c.*277C>G (n.*277C>G) | gnomAD v4 |
| 15 | g.48468480G>T | CA392353588 | FBN1 | c.4514C>A (p.Thr1505Asn) n.3188C>A c.*277C>A (n.*277C>A) | gnomAD v4 |
| 15 | g.48468481T>A | CA392353589 | FBN1 | c.4513A>T (p.Thr1505Ser) n.3187A>T c.*276A>T (n.*276A>T) | |
| 15 | g.48468481T>C | CA392353591 | FBN1 | c.4513A>G (p.Thr1505Ala) n.3187A>G c.*276A>G (n.*276A>G) | gnomAD v4 |
| 15 | g.48468481T>G | CA392353597 | FBN1 | c.4513A>C (p.Thr1505Pro) n.3187A>C c.*276A>C (n.*276A>C) | |
| 15 | g.48468482G>A | CA490027489 | FBN1 | c.4512C>T (p.Asn1504=) n.3186C>T c.*275C>T (n.*275C>T) | ClinVar gnomAD v4 |
| 15 | g.48468482G>C | CA392353606 | FBN1 | c.4512C>G (p.Asn1504Lys) n.3186C>G c.*275C>G (n.*275C>G) | |
| 15 | g.48468482G>T | CA392353600 | FBN1 | c.4512C>A (p.Asn1504Lys) n.3186C>A c.*275C>A (n.*275C>A) | |
| 15 | g.48468482_48468493delinsGTTGACACAGTT | CA2175518442 | FBN1 | c.4501_4512delinsAACTGTGTCAAC (p.Asn1501=) n.3175_3186delinsAACTGTGTCAAC c.*264_*275delinsAACTGTGTCAAC (n.*264_*275delinsAACTGTGTCAAC) | |
| 15 | g.48468483T>A | CA392353609 | FBN1 | c.4511A>T (p.Asn1504Ile) n.3185A>T c.*274A>T (n.*274A>T) | ClinVar dbSNP |
| 15 | g.48468483T>C | CA392353610 | FBN1 | c.4511A>G (p.Asn1504Ser) n.3185A>G c.*274A>G (n.*274A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468483T>G | CA392353613 | FBN1 | c.4511A>C (p.Asn1504Thr) n.3185A>C c.*274A>C (n.*274A>C) | |
| 15 | g.48468483T= | CA2175518443 | FBN1 | c.4511A= (p.Asn1504=) n.3185A= c.*274A= (n.*274A=) | |
| 15 | g.48468483_48468493del | CA658824316 | FBN1 | c.4501_4511del (p.Asn1501HisfsTer8) n.3175_3185del c.*264_*274del (n.*264_*274del) | ClinVar dbSNP |
| 15 | g.48468484T>A | CA392353614 | FBN1 | c.4510A>T (p.Asn1504Tyr) n.3184A>T c.*273A>T (n.*273A>T) | ClinVar dbSNP |
| 15 | g.48468484T>C | CA392353615 | FBN1 | c.4510A>G (p.Asn1504Asp) n.3184A>G c.*273A>G (n.*273A>G) | |
| 15 | g.48468484T>G | CA392353621 | FBN1 | c.4510A>C (p.Asn1504His) n.3184A>C c.*273A>C (n.*273A>C) | |
| 15 | g.48468484T= | CA2175518444 | FBN1 | c.4510A= (p.Asn1504=) n.3184A= c.*273A= (n.*273A=) | |
| 15 | g.48468485G>A | CA490027491 | FBN1 | c.4509C>T (p.Val1503=) n.3183C>T c.*272C>T (n.*272C>T) | |
| 15 | g.48468485G>C | CA490027492 | FBN1 | c.4509C>G (p.Val1503=) n.3183C>G c.*272C>G (n.*272C>G) | |
| 15 | g.48468485G>T | CA490027493 | FBN1 | c.4509C>A (p.Val1503=) n.3183C>A c.*272C>A (n.*272C>A) | |
| 15 | g.48468486A= | CA2175518445 | FBN1 | c.4508T= (p.Val1503=) n.3182T= c.*271T= (n.*271T=) | |
| 15 | g.48468486A>C | CA392353623 | FBN1 | c.4508T>G (p.Val1503Gly) n.3182T>G c.*271T>G (n.*271T>G) | |
| 15 | g.48468486A>G | CA392353624 | FBN1 | c.4508T>C (p.Val1503Ala) n.3182T>C c.*271T>C (n.*271T>C) | dbSNP gnomAD v4 |
| 15 | g.48468486A>T | CA392353626 | FBN1 | c.4508T>A (p.Val1503Asp) n.3182T>A c.*271T>A (n.*271T>A) | |
| 15 | g.48468489_48468490del | CA2695220604 | FBN1 | c.4507_4508del (p.Val1503GlnfsTer9) n.3181_3182del c.*270_*271del (n.*270_*271del) | |
| 15 | g.48468487C>A | CA392353628 | FBN1 | c.4507G>T (p.Val1503Phe) n.3181G>T c.*270G>T (n.*270G>T) | |
| 15 | g.48468487C= | CA2175518446 | FBN1 | c.4507G= (p.Val1503=) n.3181G= c.*270G= (n.*270G=) | |
| 15 | g.48468487C>G | CA392353629 | FBN1 | c.4507G>C (p.Val1503Leu) n.3181G>C c.*270G>C (n.*270G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468487C>T | CA392353630 | FBN1 | c.4507G>A (p.Val1503Ile) n.3181G>A c.*270G>A (n.*270G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468488A>C | CA392353633 | FBN1 | c.4506T>G (p.Cys1502Trp) n.3180T>G c.*269T>G (n.*269T>G) | |
| 15 | g.48468488A>G | CA490027498 | FBN1 | c.4506T>C (p.Cys1502=) n.3180T>C c.*269T>C (n.*269T>C) | |
| 15 | g.48468488A>T | CA392353631 | FBN1 | c.4506T>A (p.Cys1502Ter) n.3180T>A c.*269T>A (n.*269T>A) | ClinVar |
| 15 | g.48468489C>A | CA392353635 | FBN1 | c.4505G>T (p.Cys1502Phe) n.3179G>T c.*268G>T (n.*268G>T) | |
| 15 | g.48468489C= | CA2175518447 | FBN1 | c.4505G= (p.Cys1502=) n.3179G= c.*268G= (n.*268G=) | |
| 15 | g.48468489C>G | CA392353638 | FBN1 | c.4505G>C (p.Cys1502Ser) n.3179G>C c.*268G>C (n.*268G>C) | |
| 15 | g.48468489C>T | CA015141 | FBN1 | c.4505G>A (p.Cys1502Tyr) n.3179G>A c.*268G>A (n.*268G>A) | ClinVar dbSNP |
| 15 | g.48468490A>C | CA392353641 | FBN1 | c.4504T>G (p.Cys1502Gly) n.3178T>G c.*267T>G (n.*267T>G) | |
| 15 | g.48468490A>G | CA392353643 | FBN1 | c.4504T>C (p.Cys1502Arg) n.3178T>C c.*267T>C (n.*267T>C) | ClinVar dbSNP |
| 15 | g.48468490A>T | CA392353645 | FBN1 | c.4504T>A (p.Cys1502Ser) n.3178T>A c.*267T>A (n.*267T>A) | |
| 15 | g.48468491G>A | CA490027502 | FBN1 | c.4503C>T (p.Asn1501=) n.3177C>T c.*266C>T (n.*266C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468491G>C | CA392353648 | FBN1 | c.4503C>G (p.Asn1501Lys) n.3177C>G c.*266C>G (n.*266C>G) | |
| 15 | g.48468491G= | CA2175518448 | FBN1 | c.4503C= (p.Asn1501=) n.3177C= c.*266C= (n.*266C=) | |
| 15 | g.48468491G>T | CA392353650 | FBN1 | c.4503C>A (p.Asn1501Lys) n.3177C>A c.*266C>A (n.*266C>A) | |
| 15 | g.48468492T>A | CA392353652 | FBN1 | c.4502A>T (p.Asn1501Ile) n.3176A>T c.*265A>T (n.*265A>T) | |
| 15 | g.48468492T>C | CA392353654 | FBN1 | c.4502A>G (p.Asn1501Ser) n.3176A>G c.*265A>G (n.*265A>G) | dbSNP |
| 15 | g.48468492T>G | CA392353656 | FBN1 | c.4502A>C (p.Asn1501Thr) n.3176A>C c.*265A>C (n.*265A>C) | |
| 15 | g.48468492T= | CA2175518449 | FBN1 | c.4502A= (p.Asn1501=) n.3176A= c.*265A= (n.*265A=) | |
| 15 | g.48468493T>A | CA392353658 | FBN1 | c.4501A>T (p.Asn1501Tyr) n.3175A>T c.*264A>T (n.*264A>T) | |
| 15 | g.48468493T>C | CA392353659 | FBN1 | c.4501A>G (p.Asn1501Asp) n.3175A>G c.*264A>G (n.*264A>G) | |
| 15 | g.48468493T>G | CA392353662 | FBN1 | c.4501A>C (p.Asn1501His) n.3175A>C c.*264A>C (n.*264A>C) | |
| 15 | g.48468494C>A | CA490027506 | FBN1 | c.4500G>T (p.Gly1500=) n.3174G>T c.*263G>T (n.*263G>T) | |
| 15 | g.48468494C>G | CA490027507 | FBN1 | c.4500G>C (p.Gly1500=) n.3174G>C c.*263G>C (n.*263G>C) | |
| 15 | g.48468494C>T | CA490027505 | FBN1 | c.4500G>A (p.Gly1500=) n.3174G>A c.*263G>A (n.*263G>A) | |
| 15 | g.48468495C>A | CA392353666 | FBN1 | c.4499G>T (p.Gly1500Val) n.3173G>T c.*262G>T (n.*262G>T) | |
| 15 | g.48468495C>G | CA392353664 | FBN1 | c.4499G>C (p.Gly1500Ala) n.3173G>C c.*262G>C (n.*262G>C) | |
| 15 | g.48468495C>T | CA392353663 | FBN1 | c.4499G>A (p.Gly1500Glu) n.3173G>A c.*262G>A (n.*262G>A) | COSMIC |
| 15 | g.48468496C>A | CA392353669 | FBN1 | c.4498G>T (p.Gly1500Trp) n.3172G>T c.*261G>T (n.*261G>T) | |
| 15 | g.48468496C>G | CA392353670 | FBN1 | c.4498G>C (p.Gly1500Arg) n.3172G>C c.*261G>C (n.*261G>C) | |
| 15 | g.48468496C>T | CA392353672 | FBN1 | c.4498G>A (p.Gly1500Arg) n.3172G>A c.*261G>A (n.*261G>A) | |
| 15 | g.48468497A>C | CA392353674 | FBN1 | c.4497T>G (p.Ser1499Arg) n.3171T>G c.*260T>G (n.*260T>G) | |
| 15 | g.48468497A>G | CA490027511 | FBN1 | c.4497T>C (p.Ser1499=) n.3171T>C c.*260T>C (n.*260T>C) | gnomAD v4 |
| 15 | g.48468497A>T | CA392353676 | FBN1 | c.4497T>A (p.Ser1499Arg) n.3171T>A c.*260T>A (n.*260T>A) | |
| 15 | g.48468498C>A | CA392353678 | FBN1 | c.4496G>T (p.Ser1499Ile) n.3170G>T c.*259G>T (n.*259G>T) | |
| 15 | g.48468498C>G | CA392353680 | FBN1 | c.4496G>C (p.Ser1499Thr) n.3170G>C c.*259G>C (n.*259G>C) | |
| 15 | g.48468498C>T | CA392353683 | FBN1 | c.4496G>A (p.Ser1499Asn) n.3170G>A c.*259G>A (n.*259G>A) | gnomAD v4 |
| 15 | g.48468499T>A | CA392353685 | FBN1 | c.4495A>T (p.Ser1499Cys) n.3169A>T c.*258A>T (n.*258A>T) | |
| 15 | g.48468499T>C | CA392353695 | FBN1 | c.4495A>G (p.Ser1499Gly) n.3169A>G c.*258A>G (n.*258A>G) | |
| 15 | g.48468499T>G | CA392353698 | FBN1 | c.4495A>C (p.Ser1499Arg) n.3169A>C c.*258A>C (n.*258A>C) | |
| 15 | g.48468500G>A | CA490027515 | FBN1 | c.4494C>T (p.Ile1498=) n.3168C>T c.*257C>T (n.*257C>T) | gnomAD v4 |
| 15 | g.48468500G>C | CA392353701 | FBN1 | c.4494C>G (p.Ile1498Met) n.3168C>G c.*257C>G (n.*257C>G) | |
| 15 | g.48468500G>T | CA490027514 | FBN1 | c.4494C>A (p.Ile1498=) n.3168C>A c.*257C>A (n.*257C>A) | |
| 15 | g.48468501A>C | CA392353704 | FBN1 | c.4493T>G (p.Ile1498Ser) n.3167T>G c.*256T>G (n.*256T>G) | |
| 15 | g.48468501A>G | CA392353708 | FBN1 | c.4493T>C (p.Ile1498Thr) n.3167T>C c.*256T>C (n.*256T>C) | |
| 15 | g.48468501A>T | CA392353706 | FBN1 | c.4493T>A (p.Ile1498Asn) n.3167T>A c.*256T>A (n.*256T>A) | |
| 15 | g.48468502T>A | CA392353712 | FBN1 | c.4492A>T (p.Ile1498Phe) n.3166A>T c.*255A>T (n.*255A>T) | |
| 15 | g.48468502T>C | CA015134 | FBN1 | c.4492A>G (p.Ile1498Val) n.3166A>G c.*255A>G (n.*255A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468502T>G | CA392353714 | FBN1 | c.4492A>C (p.Ile1498Leu) n.3166A>C c.*255A>C (n.*255A>C) | |
| 15 | g.48468502T= | CA2175518450 | FBN1 | c.4492A= (p.Ile1498=) n.3166A= c.*255A= (n.*255A=) | |
| 15 | g.48468503G>A | CA490027517 | FBN1 | c.4491C>T (p.Cys1497=) n.3165C>T c.*254C>T (n.*254C>T) | dbSNP gnomAD v4 |
| 15 | g.48468503G>C | CA392353718 | FBN1 | c.4491C>G (p.Cys1497Trp) n.3165C>G c.*254C>G (n.*254C>G) | ClinVar dbSNP |
| 15 | g.48468503G= | CA2175518451 | FBN1 | c.4491C= (p.Cys1497=) n.3165C= c.*254C= (n.*254C=) | |
| 15 | g.48468503G>T | CA392353720 | FBN1 | c.4491C>A (p.Cys1497Ter) n.3165C>A c.*254C>A (n.*254C>A) | ClinVar dbSNP |
| 15 | g.48468504C>A | CA392353722 | FBN1 | c.4490G>T (p.Cys1497Phe) n.3164G>T c.*253G>T (n.*253G>T) | |
| 15 | g.48468504C= | CA2175518452 | FBN1 | c.4490G= (p.Cys1497=) n.3164G= c.*253G= (n.*253G=) | |
| 15 | g.48468504C>G | CA392353724 | FBN1 | c.4490G>C (p.Cys1497Ser) n.3164G>C c.*253G>C (n.*253G>C) | ClinVar dbSNP |
| 15 | g.48468504C>T | CA392353726 | FBN1 | c.4490G>A (p.Cys1497Tyr) n.3164G>A c.*253G>A (n.*253G>A) | ClinVar dbSNP |
| 15 | g.48468505A= | CA2175518453 | FBN1 | c.4489T= (p.Cys1497=) n.3163T= c.*252T= (n.*252T=) | |
| 15 | g.48468505A>C | CA392353728 | FBN1 | c.4489T>G (p.Cys1497Gly) n.3163T>G c.*252T>G (n.*252T>G) | |
| 15 | g.48468505A>G | CA392353730 | FBN1 | c.4489T>C (p.Cys1497Arg) n.3163T>C c.*252T>C (n.*252T>C) | ClinVar dbSNP |
| 15 | g.48468505A>T | CA392353732 | FBN1 | c.4489T>A (p.Cys1497Ser) n.3163T>A c.*252T>A (n.*252T>A) | ClinVar dbSNP |
| 15 | g.48468506C>A | CA490027520 | FBN1 | c.4488G>T (p.Thr1496=) n.3162G>T c.*251G>T (n.*251G>T) | |
| 15 | g.48468506C= | CA2175518454 | FBN1 | c.4488G= (p.Thr1496=) n.3162G= c.*251G= (n.*251G=) | |
| 15 | g.48468506C>G | CA269552431 | FBN1 | c.4488G>C (p.Thr1496=) n.3162G>C c.*251G>C (n.*251G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468506C>T | CA053179 | FBN1 | c.4488G>A (p.Thr1496=) n.3162G>A c.*251G>A (n.*251G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468507G>A | CA053175 | FBN1 | c.4487C>T (p.Thr1496Met) n.3161C>T c.*250C>T (n.*250C>T) | ClinVar dbSNP ExAC gnomAD v4 |
| 15 | g.48468507G>C | CA392353738 | FBN1 | c.4487C>G (p.Thr1496Arg) n.3161C>G c.*250C>G (n.*250C>G) | |
| 15 | g.48468507G= | CA2175518455 | FBN1 | c.4487C= (p.Thr1496=) n.3161C= c.*250C= (n.*250C=) | |
| 15 | g.48468507G>T | CA392353740 | FBN1 | c.4487C>A (p.Thr1496Lys) n.3161C>A c.*250C>A (n.*250C>A) | |
| 15 | g.48468508T>A | CA392353746 | FBN1 | c.4486A>T (p.Thr1496Ser) n.3160A>T c.*249A>T (n.*249A>T) | |
| 15 | g.48468508T>C | CA392353744 | FBN1 | c.4486A>G (p.Thr1496Ala) n.3160A>G c.*249A>G (n.*249A>G) | |
| 15 | g.48468508T>G | CA392353742 | FBN1 | c.4486A>C (p.Thr1496Pro) n.3160A>C c.*249A>C (n.*249A>C) | |
| 15 | g.48468509G>A | CA053167 | FBN1 | c.4485C>T (p.Thr1495=) n.3159C>T c.*248C>T (n.*248C>T) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.48468509G>C | CA490027524 | FBN1 | c.4485C>G (p.Thr1495=) n.3159C>G c.*248C>G (n.*248C>G) | |
| 15 | g.48468509G= | CA2175518456 | FBN1 | c.4485C= (p.Thr1495=) n.3159C= c.*248C= (n.*248C=) | |
| 15 | g.48468509G>T | CA490027527 | FBN1 | c.4485C>A (p.Thr1495=) n.3159C>A c.*248C>A (n.*248C>A) | |
| 15 | g.48468510del | CA2695220605 | FBN1 | c.4485del (p.Thr1496ArgfsTer24) n.3159del c.*248del (n.*248del) | |
| 15 | g.48468510G>A | CA392353749 | FBN1 | c.4484C>T (p.Thr1495Ile) n.3158C>T c.*247C>T (n.*247C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468510G>C | CA392353750 | FBN1 | c.4484C>G (p.Thr1495Ser) n.3158C>G c.*247C>G (n.*247C>G) | |
| 15 | g.48468510G= | CA2175518457 | FBN1 | c.4484C= (p.Thr1495=) n.3158C= c.*247C= (n.*247C=) | |
| 15 | g.48468510G>T | CA392353752 | FBN1 | c.4484C>A (p.Thr1495Asn) n.3158C>A c.*247C>A (n.*247C>A) | |
| 15 | g.48468511T>A | CA392353755 | FBN1 | c.4483A>T (p.Thr1495Ser) n.3157A>T c.*246A>T (n.*246A>T) | |
| 15 | g.48468511T>C | CA392353757 | FBN1 | c.4483A>G (p.Thr1495Ala) n.3157A>G c.*246A>G (n.*246A>G) | |
| 15 | g.48468511T>G | CA392353759 | FBN1 | c.4483A>C (p.Thr1495Pro) n.3157A>C c.*246A>C (n.*246A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48468511T= | CA2175518458 | FBN1 | c.4483A= (p.Thr1495=) n.3157A= c.*246A= (n.*246A=) | |
| 15 | g.48468512T>A | CA490027529 | FBN1 | c.4482A>T (p.Pro1494=) n.3156A>T c.*245A>T (n.*245A>T) | |
| 15 | g.48468512T>C | CA490027530 | FBN1 | c.4482A>G (p.Pro1494=) n.3156A>G c.*245A>G (n.*245A>G) | |
| 15 | g.48468512T>G | CA490027531 | FBN1 | c.4482A>C (p.Pro1494=) n.3156A>C c.*245A>C (n.*245A>C) | |
| 15 | g.48468513G>A | CA392353762 | FBN1 | c.4481C>T (p.Pro1494Leu) n.3155C>T c.*244C>T (n.*244C>T) | |
| 15 | g.48468513G>C | CA392353764 | FBN1 | c.4481C>G (p.Pro1494Arg) n.3155C>G c.*244C>G (n.*244C>G) | |
| 15 | g.48468513G>T | CA392353766 | FBN1 | c.4481C>A (p.Pro1494Gln) n.3155C>A c.*244C>A (n.*244C>A) | |
| 15 | g.48468514G>A | CA392353769 | FBN1 | c.4480C>T (p.Pro1494Ser) n.3154C>T c.*243C>T (n.*243C>T) | ClinVar dbSNP COSMIC |
| 15 | g.48468514G>C | CA392353771 | FBN1 | c.4480C>G (p.Pro1494Ala) n.3154C>G c.*243C>G (n.*243C>G) | |
| 15 | g.48468514G= | CA2175518459 | FBN1 | c.4480C= (p.Pro1494=) n.3154C= c.*243C= (n.*243C=) | |
| 15 | g.48468514G>T | CA392353773 | FBN1 | c.4480C>A (p.Pro1494Thr) n.3154C>A c.*243C>A (n.*243C>A) | COSMIC |
| 15 | g.48468515A>C | CA392353776 | FBN1 | c.4479T>G (p.Asp1493Glu) n.3153T>G c.*242T>G (n.*242T>G) | |
| 15 | g.48468515A>G | CA490027534 | FBN1 | c.4479T>C (p.Asp1493=) n.3153T>C c.*242T>C (n.*242T>C) | |
| 15 | g.48468515A>T | CA392353778 | FBN1 | c.4479T>A (p.Asp1493Glu) n.3153T>A c.*242T>A (n.*242T>A) | |
| 15 | g.48468516T>A | CA392353782 | FBN1 | c.4478A>T (p.Asp1493Val) n.3152A>T c.*241A>T (n.*241A>T) | dbSNP |
| 15 | g.48468516T>C | CA392353784 | FBN1 | c.4478A>G (p.Asp1493Gly) n.3152A>G c.*241A>G (n.*241A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468516T>G | CA392353786 | FBN1 | c.4478A>C (p.Asp1493Ala) n.3152A>C c.*241A>C (n.*241A>C) | gnomAD v4 |
| 15 | g.48468516T= | CA2175518460 | FBN1 | c.4478A= (p.Asp1493=) n.3152A= c.*241A= (n.*241A=) | |
| 15 | g.48468517C>A | CA392353789 | FBN1 | c.4477G>T (p.Asp1493Tyr) n.3151G>T c.*240G>T (n.*240G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468517C= | CA2175518461 | FBN1 | c.4477G= (p.Asp1493=) n.3151G= c.*240G= (n.*240G=) | |
| 15 | g.48468517C>G | CA392353791 | FBN1 | c.4477G>C (p.Asp1493His) n.3151G>C c.*240G>C (n.*240G>C) | |
| 15 | g.48468517C>T | CA392353793 | FBN1 | c.4477G>A (p.Asp1493Asn) n.3151G>A c.*240G>A (n.*240G>A) | gnomAD v4 |
| 15 | g.48468518C>A | CA490027538 | FBN1 | c.4476G>T (p.Leu1492=) n.3150G>T c.*239G>T (n.*239G>T) | |
| 15 | g.48468518C>G | CA490027537 | FBN1 | c.4476G>C (p.Leu1492=) n.3150G>C c.*239G>C (n.*239G>C) | |
| 15 | g.48468518C>T | CA490027536 | FBN1 | c.4476G>A (p.Leu1492=) n.3150G>A c.*239G>A (n.*239G>A) | |
| 15 | g.48468519A>C | CA392353797 | FBN1 | c.4475T>G (p.Leu1492Arg) n.3149T>G c.*238T>G (n.*238T>G) | |
| 15 | g.48468519A>G | CA392353798 | FBN1 | c.4475T>C (p.Leu1492Pro) n.3149T>C c.*238T>C (n.*238T>C) | |
| 15 | g.48468519A>T | CA392353799 | FBN1 | c.4475T>A (p.Leu1492Gln) n.3149T>A c.*238T>A (n.*238T>A) | |
| 15 | g.48468519_48468520delinsAG | CA2175518462 | FBN1 | c.4474_4475delinsCT (p.Leu1492=) n.3148_3149delinsCT c.*237_*238delinsCT (n.*237_*238delinsCT) | |
| 15 | g.48468520G>A | CA490027542 | FBN1 | c.4474C>T (p.Leu1492=) n.3148C>T c.*237C>T (n.*237C>T) | |
| 15 | g.48468520G>C | CA392353802 | FBN1 | c.4474C>G (p.Leu1492Val) n.3148C>G c.*237C>G (n.*237C>G) | |
| 15 | g.48468520G>T | CA392353803 | FBN1 | c.4474C>A (p.Leu1492Met) n.3148C>A c.*237C>A (n.*237C>A) | |
| 15 | g.48468521del | CA658824317 | FBN1 | c.4474del (p.Leu1492TrpfsTer28) n.3148del c.*237del (n.*237del) | ClinVar dbSNP |
| 15 | g.48468521G>A | CA490027543 | FBN1 | c.4473C>T (p.Cys1491=) n.3147C>T c.*236C>T (n.*236C>T) | |
| 15 | g.48468521G>C | CA392353804 | FBN1 | c.4473C>G (p.Cys1491Trp) n.3147C>G c.*236C>G (n.*236C>G) | ClinVar dbSNP |
| 15 | g.48468521G= | CA2175518463 | FBN1 | c.4473C= (p.Cys1491=) n.3147C= c.*236C= (n.*236C=) | |
| 15 | g.48468521G>T | CA392353805 | FBN1 | c.4473C>A (p.Cys1491Ter) n.3147C>A c.*236C>A (n.*236C>A) | |
| 15 | g.48468522C>A | CA392353806 | FBN1 | c.4472G>T (p.Cys1491Phe) n.3146G>T c.*235G>T (n.*235G>T) | ClinVar dbSNP |
| 15 | g.48468522C>G | CA392353808 | FBN1 | c.4472G>C (p.Cys1491Ser) n.3146G>C c.*235G>C (n.*235G>C) | |
| 15 | g.48468522C>T | CA392353807 | FBN1 | c.4472G>A (p.Cys1491Tyr) n.3146G>A c.*235G>A (n.*235G>A) | ClinVar |
| 15 | g.48468523A>C | CA392353809 | FBN1 | c.4471T>G (p.Cys1491Gly) n.3145T>G c.*234T>G (n.*234T>G) | |
| 15 | g.48468523A>G | CA392353810 | FBN1 | c.4471T>C (p.Cys1491Arg) n.3145T>C c.*234T>C (n.*234T>C) | ClinVar dbSNP |
| 15 | g.48468523A>T | CA392353811 | FBN1 | c.4471T>A (p.Cys1491Ser) n.3145T>A c.*234T>A (n.*234T>A) | ClinVar |
| 15 | g.48468524T>A | CA392353812 | FBN1 | c.4470A>T (p.Glu1490Asp) n.3144A>T c.*233A>T (n.*233A>T) | gnomAD v4 |
| 15 | g.48468524T>C | CA490027548 | FBN1 | c.4470A>G (p.Glu1490=) n.3144A>G c.*233A>G (n.*233A>G) | |
| 15 | g.48468524T>G | CA392353813 | FBN1 | c.4470A>C (p.Glu1490Asp) n.3144A>C c.*233A>C (n.*233A>C) | |
| 15 | g.48468525T>A | CA392353814 | FBN1 | c.4469A>T (p.Glu1490Val) n.3143A>T c.*232A>T (n.*232A>T) | |
| 15 | g.48468525T>C | CA392353815 | FBN1 | c.4469A>G (p.Glu1490Gly) n.3143A>G c.*232A>G (n.*232A>G) | ClinVar dbSNP |
| 15 | g.48468525T>G | CA392353816 | FBN1 | c.4469A>C (p.Glu1490Ala) n.3143A>C c.*232A>C (n.*232A>C) | COSMIC |
| 15 | g.48468525T= | CA2175518464 | FBN1 | c.4469A= (p.Glu1490=) n.3143A= c.*232A= (n.*232A=) | |
| 15 | g.48468526C>A | CA16614646 | FBN1 | c.4468G>T (p.Glu1490Ter) n.3142G>T c.*231G>T (n.*231G>T) | ClinVar dbSNP COSMIC |
| 15 | g.48468526C= | CA2175518465 | FBN1 | c.4468G= (p.Glu1490=) n.3142G= c.*231G= (n.*231G=) | |
| 15 | g.48468526C>G | CA392353817 | FBN1 | c.4468G>C (p.Glu1490Gln) n.3142G>C c.*231G>C (n.*231G>C) | |
| 15 | g.48468526C>T | CA392353818 | FBN1 | c.4468G>A (p.Glu1490Lys) n.3142G>A c.*231G>A (n.*231G>A) | ClinVar dbSNP |
| 15 | g.48468527A= | CA2175518466 | FBN1 | c.4467T= (p.Asn1489=) n.3141T= c.*230T= (n.*230T=) | |
| 15 | g.48468527A>C | CA392353819 | FBN1 | c.4467T>G (p.Asn1489Lys) n.3141T>G c.*230T>G (n.*230T>G) | |
| 15 | g.48468527A>G | CA490027552 | FBN1 | c.4467T>C (p.Asn1489=) n.3141T>C c.*230T>C (n.*230T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48468527A>T | CA015124 | FBN1 | c.4467T>A (p.Asn1489Lys) n.3141T>A c.*230T>A (n.*230T>A) | ClinVar dbSNP |
| 15 | g.48468528T>A | CA392353820 | FBN1 | c.4466A>T (p.Asn1489Ile) n.3140A>T c.*229A>T (n.*229A>T) | |
| 15 | g.48468528T>C | CA16042872 | FBN1 | c.4466A>G (p.Asn1489Ser) n.3140A>G c.*229A>G (n.*229A>G) | ClinVar dbSNP |
| 15 | g.48468528T>G | CA392353821 | FBN1 | c.4466A>C (p.Asn1489Thr) n.3140A>C c.*229A>C (n.*229A>C) | |
| 15 | g.48468528T= | CA2175518467 | FBN1 | c.4466A= (p.Asn1489=) n.3140A= c.*229A= (n.*229A=) | |
| 15 | g.48468529T>A | CA392353822 | FBN1 | c.4465A>T (p.Asn1489Tyr) n.3139A>T c.*228A>T (n.*228A>T) | |
| 15 | g.48468529T>C | CA392353823 | FBN1 | c.4465A>G (p.Asn1489Asp) n.3139A>G c.*228A>G (n.*228A>G) | |
| 15 | g.48468529T>G | CA392353824 | FBN1 | c.4465A>C (p.Asn1489His) n.3139A>C c.*228A>C (n.*228A>C) | |
| 15 | g.48468530C>A | CA490027556 | FBN1 | c.4464G>T (p.Val1488=) n.3138G>T c.*227G>T (n.*227G>T) | |
| 15 | g.48468530C= | CA2175518468 | FBN1 | c.4464G= (p.Val1488=) n.3138G= c.*227G= (n.*227G=) | |
| 15 | g.48468530C>G | CA490027557 | FBN1 | c.4464G>C (p.Val1488=) n.3138G>C c.*227G>C (n.*227G>C) | |
| 15 | g.48468530C>T | CA490027558 | FBN1 | c.4464G>A (p.Val1488=) n.3138G>A c.*227G>A (n.*227G>A) | dbSNP |
| 15 | g.48468531A= | CA2175518469 | FBN1 | c.4463T= (p.Val1488=) n.3137T= c.*226T= (n.*226T=) | |
| 15 | g.48468531A>C | CA392353825 | FBN1 | c.4463T>G (p.Val1488Gly) n.3137T>G c.*226T>G (n.*226T>G) | |
| 15 | g.48468531A>G | CA392353826 | FBN1 | c.4463T>C (p.Val1488Ala) n.3137T>C c.*226T>C (n.*226T>C) | |
| 15 | g.48468531A>T | CA392353827 | FBN1 | c.4463T>A (p.Val1488Glu) n.3137T>A c.*226T>A (n.*226T>A) | dbSNP |
| 15 | g.48468532C>A | CA392353828 | FBN1 | c.4462G>T (p.Val1488Leu) n.3136G>T c.*225G>T (n.*225G>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468532C= | CA2175518470 | FBN1 | c.4462G= (p.Val1488=) n.3136G= c.*225G= (n.*225G=) | |
| 15 | g.48468532C>G | CA392353829 | FBN1 | c.4462G>C (p.Val1488Leu) n.3136G>C c.*225G>C (n.*225G>C) | |
| 15 | g.48468532C>T | CA392353830 | FBN1 | c.4462G>A (p.Val1488Met) n.3136G>A c.*225G>A (n.*225G>A) | |
| 15 | g.48468533A>C | CA392353831 | FBN1 | c.4461T>G (p.Asp1487Glu) n.3135T>G c.*224T>G (n.*224T>G) | gnomAD v4 |
| 15 | g.48468533A>G | CA490027563 | FBN1 | c.4461T>C (p.Asp1487=) n.3135T>C c.*224T>C (n.*224T>C) | |
| 15 | g.48468533A>T | CA392353832 | FBN1 | c.4461T>A (p.Asp1487Glu) n.3135T>A c.*224T>A (n.*224T>A) | gnomAD v4 |
| 15 | g.48468534T>A | CA392353835 | FBN1 | c.4460A>T (p.Asp1487Val) n.3134A>T c.*223A>T (n.*223A>T) | |
| 15 | g.48468534T>C | CA392353834 | FBN1 | c.4460A>G (p.Asp1487Gly) n.3134A>G c.*223A>G (n.*223A>G) | ClinVar dbSNP |
| 15 | g.48468534T>G | CA392353833 | FBN1 | c.4460A>C (p.Asp1487Ala) n.3134A>C c.*223A>C (n.*223A>C) | ClinVar dbSNP |
| 15 | g.48468534T= | CA2175518471 | FBN1 | c.4460A= (p.Asp1487=) n.3134A= c.*223A= (n.*223A=) | |
| 15 | g.48468535C>A | CA392353836 | FBN1 | c.4460-1G>T (n.4460-1G>T) n.3134-1G>T c.*223-1G>T (n.*223-1G>T) | ClinVar |
| 15 | g.48468535C= | CA2175518472 | FBN1 | c.4460-1G= (n.4460-1G=) n.3134-1G= c.*223-1G= (n.*223-1G=) | |
| 15 | g.48468535C>G | CA269552490 | FBN1 | c.4460-1G>C (n.4460-1G>C) n.3134-1G>C c.*223-1G>C (n.*223-1G>C) | ClinVar dbSNP |
| 15 | g.48468535C>T | CA392353837 | FBN1 | c.4460-1G>A (n.4460-1G>A) n.3134-1G>A c.*223-1G>A (n.*223-1G>A) | |
| 15 | g.48468536T>A | CA392353838 | FBN1 | c.4460-2A>T (n.4460-2A>T) n.3134-2A>T c.*223-2A>T (n.*223-2A>T) | |
| 15 | g.48468536T>C | CA392353839 | FBN1 | c.4460-2A>G (n.4460-2A>G) n.3134-2A>G c.*223-2A>G (n.*223-2A>G) | |
| 15 | g.48468536T>G | CA392353840 | FBN1 | c.4460-2A>C (n.4460-2A>C) n.3134-2A>C c.*223-2A>C (n.*223-2A>C) |