| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48474339G>A | CA392320296 | FBN1 | c.4126C>T (p.Gln1376Ter) n.2800C>T c.798C>T (p.Ala266=) | |
| 15 | g.48474339G>C | CA392320297 | FBN1 | c.4126C>G (p.Gln1376Glu) n.2800C>G c.798C>G (p.Ala266=) | |
| 15 | g.48474339G>T | CA392320298 | FBN1 | c.4126C>A (p.Gln1376Lys) n.2800C>A c.798C>A (p.Ala266=) | |
| 15 | g.48474340G>A | CA490014841 | FBN1 | c.4125C>T (p.Ser1375=) n.2799C>T c.797C>T (p.Ala266Val) | |
| 15 | g.48474340G>C | CA392320299 | FBN1 | c.4125C>G (p.Ser1375Arg) n.2799C>G c.797C>G (p.Ala266Gly) | ClinVar dbSNP |
| 15 | g.48474340G= | CA2175495445 | FBN1 | c.4125C= (p.Ser1375=) n.2799C= c.797C= (p.Ala266=) | |
| 15 | g.48474340G>T | CA392320300 | FBN1 | c.4125C>A (p.Ser1375Arg) n.2799C>A c.797C>A (p.Ala266Asp) | |
| 15 | g.48474341C>A | CA392320301 | FBN1 | c.4124G>T (p.Ser1375Ile) n.2798G>T c.796G>T (p.Ala266Ser) | |
| 15 | g.48474341C= | CA2175495451 | FBN1 | c.4124G= (p.Ser1375=) n.2798G= c.796G= (p.Ala266=) | |
| 15 | g.48474341C>G | CA392320302 | FBN1 | c.4124G>C (p.Ser1375Thr) n.2798G>C c.796G>C (p.Ala266Pro) | gnomAD v4 |
| 15 | g.48474341C>T | CA392320303 | FBN1 | c.4124G>A (p.Ser1375Asn) n.2798G>A c.796G>A (p.Ala266Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474342T>A | CA392320304 | FBN1 | c.4123A>T (p.Ser1375Cys) n.2797A>T c.795A>T (p.Ala265=) | |
| 15 | g.48474342T>C | CA392320305 | FBN1 | c.4123A>G (p.Ser1375Gly) n.2797A>G c.795A>G (p.Ala265=) | gnomAD v4 |
| 15 | g.48474342T>G | CA392320306 | FBN1 | c.4123A>C (p.Ser1375Arg) n.2797A>C c.795A>C (p.Ala265=) | |
| 15 | g.48474343G>A | CA490014847 | FBN1 | c.4122C>T (p.Cys1374=) n.2796C>T c.794C>T (p.Ala265Val) | ClinVar |
| 15 | g.48474343G>C | CA392320307 | FBN1 | c.4122C>G (p.Cys1374Trp) n.2796C>G c.794C>G (p.Ala265Gly) | |
| 15 | g.48474343G= | CA2175495457 | FBN1 | c.4122C= (p.Cys1374=) n.2796C= c.794C= (p.Ala265=) | |
| 15 | g.48474343G>T | CA269520419 | FBN1 | c.4122C>A (p.Cys1374Ter) n.2796C>A c.794C>A (p.Ala265Glu) | ClinVar dbSNP |
| 15 | g.48474344C>A | CA392320308 | FBN1 | c.4121G>T (p.Cys1374Phe) n.2795G>T c.793G>T (p.Ala265Ser) | |
| 15 | g.48474344C>G | CA392320309 | FBN1 | c.4121G>C (p.Cys1374Ser) n.2795G>C c.793G>C (p.Ala265Pro) | |
| 15 | g.48474344C>T | CA392320310 | FBN1 | c.4121G>A (p.Cys1374Tyr) n.2795G>A c.793G>A (p.Ala265Thr) | ClinVar dbSNP |
| 15 | g.48474345A>C | CA392320311 | FBN1 | c.4120T>G (p.Cys1374Gly) n.2794T>G c.792T>G (p.Cys264Trp) | ClinVar dbSNP |
| 15 | g.48474345A>G | CA392320312 | FBN1 | c.4120T>C (p.Cys1374Arg) n.2794T>C c.792T>C (p.Cys264=) | ClinVar dbSNP |
| 15 | g.48474345A>T | CA392320313 | FBN1 | c.4120T>A (p.Cys1374Ser) n.2794T>A c.792T>A (p.Cys264Ter) | |
| 15 | g.48474346C>A | CA392320314 | FBN1 | c.4119G>T (p.Met1373Ile) n.2793G>T c.791G>T (p.Cys264Phe) | |
| 15 | g.48474346C>G | CA392320315 | FBN1 | c.4119G>C (p.Met1373Ile) n.2793G>C c.791G>C (p.Cys264Ser) | |
| 15 | g.48474346C>T | CA392320316 | FBN1 | c.4119G>A (p.Met1373Ile) n.2793G>A c.791G>A (p.Cys264Tyr) | gnomAD v4 |
| 15 | g.48474347A>C | CA392320317 | FBN1 | c.4118T>G (p.Met1373Arg) n.2792T>G c.790T>G (p.Cys264Gly) | |
| 15 | g.48474347A>G | CA392320318 | FBN1 | c.4118T>C (p.Met1373Thr) n.2792T>C c.790T>C (p.Cys264Arg) | |
| 15 | g.48474347A>T | CA392320319 | FBN1 | c.4118T>A (p.Met1373Lys) n.2792T>A c.790T>A (p.Cys264Ser) | |
| 15 | g.48474348T>A | CA392320321 | FBN1 | c.4117A>T (p.Met1373Leu) n.2791A>T c.789A>T (p.Ile263=) | |
| 15 | g.48474348T>C | CA052111 | FBN1 | c.4117A>G (p.Met1373Val) n.2791A>G c.789A>G (p.Ile263Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474348T>G | CA392320320 | FBN1 | c.4117A>C (p.Met1373Leu) n.2791A>C c.789A>C (p.Ile263=) | |
| 15 | g.48474348T= | CA2175495460 | FBN1 | c.4117A= (p.Met1373=) n.2791A= c.789A= (p.Ile263=) | |
| 15 | g.48474349A= | CA2175495466 | FBN1 | c.4116T= (p.His1372=) n.2790T= c.788T= (p.Ile263=) | |
| 15 | g.48474349A>C | CA052103 | FBN1 | c.4116T>G (p.His1372Gln) n.2790T>G c.788T>G (p.Ile263Arg) | dbSNP ExAC gnomAD v2 |
| 15 | g.48474349A>G | CA490014855 | FBN1 | c.4116T>C (p.His1372=) n.2790T>C c.788T>C (p.Ile263Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474349A>T | CA392320322 | FBN1 | c.4116T>A (p.His1372Gln) n.2790T>A c.788T>A (p.Ile263Lys) | |
| 15 | g.48474350T>A | CA392320323 | FBN1 | c.4115A>T (p.His1372Leu) n.2789A>T c.787A>T (p.Ile263Leu) | |
| 15 | g.48474350T>C | CA392320324 | FBN1 | c.4115A>G (p.His1372Arg) n.2789A>G c.787A>G (p.Ile263Val) | |
| 15 | g.48474350T>G | CA392320325 | FBN1 | c.4115A>C (p.His1372Pro) n.2789A>C c.787A>C (p.Ile263Leu) | gnomAD v4 |
| 15 | g.48474351G>A | CA392320326 | FBN1 | c.4114C>T (p.His1372Tyr) n.2788C>T c.786C>T (p.Pro262=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474351G>C | CA392320327 | FBN1 | c.4114C>G (p.His1372Asp) n.2788C>G c.786C>G (p.Pro262=) | |
| 15 | g.48474351G= | CA2175495468 | FBN1 | c.4114C= (p.His1372=) n.2788C= c.786C= (p.Pro262=) | |
| 15 | g.48474351G>T | CA392320328 | FBN1 | c.4114C>A (p.His1372Asn) n.2788C>A c.786C>A (p.Pro262=) | |
| 15 | g.48474352G>A | CA490014859 | FBN1 | c.4113C>T (p.Thr1371=) n.2787C>T c.785C>T (p.Pro262Leu) | |
| 15 | g.48474352G>C | CA490014858 | FBN1 | c.4113C>G (p.Thr1371=) n.2787C>G c.785C>G (p.Pro262Arg) | |
| 15 | g.48474352G>T | CA490014857 | FBN1 | c.4113C>A (p.Thr1371=) n.2787C>A c.785C>A (p.Pro262His) | |
| 15 | g.48474353G>A | CA392320329 | FBN1 | c.4112C>T (p.Thr1371Ile) n.2786C>T c.784C>T (p.Pro262Ser) | |
| 15 | g.48474353G>C | CA392320330 | FBN1 | c.4112C>G (p.Thr1371Ser) n.2786C>G c.784C>G (p.Pro262Ala) | |
| 15 | g.48474353G>T | CA392320331 | FBN1 | c.4112C>A (p.Thr1371Asn) n.2786C>A c.784C>A (p.Pro262Thr) | |
| 15 | g.48474354T>A | CA392320332 | FBN1 | c.4111A>T (p.Thr1371Ser) n.2785A>T c.783A>T (p.Glu261Asp) | |
| 15 | g.48474354T>C | CA392320333 | FBN1 | c.4111A>G (p.Thr1371Ala) n.2785A>G c.783A>G (p.Glu261=) | ClinVar |
| 15 | g.48474354T>G | CA392320334 | FBN1 | c.4111A>C (p.Thr1371Pro) n.2785A>C c.783A>C (p.Glu261Asp) | |
| 15 | g.48474355T>A | CA490014865 | FBN1 | c.4110A>T (p.Gly1370=) n.2784A>T c.782A>T (p.Glu261Val) | |
| 15 | g.48474355T>C | CA490014863 | FBN1 | c.4110A>G (p.Gly1370=) n.2784A>G c.782A>G (p.Glu261Gly) | |
| 15 | g.48474355T>G | CA490014862 | FBN1 | c.4110A>C (p.Gly1370=) n.2784A>C c.782A>C (p.Glu261Ala) | |
| 15 | g.48474356C>A | CA392320336 | FBN1 | c.4109G>T (p.Gly1370Val) n.2783G>T c.781G>T (p.Glu261Ter) | |
| 15 | g.48474356C= | CA2175495472 | FBN1 | c.4109G= (p.Gly1370=) n.2783G= c.781G= (p.Glu261=) | |
| 15 | g.48474356C>G | CA392320335 | FBN1 | c.4109G>C (p.Gly1370Ala) n.2783G>C c.781G>C (p.Glu261Gln) | |
| 15 | g.48474356C>T | CA052099 | FBN1 | c.4109G>A (p.Gly1370Glu) n.2783G>A c.781G>A (p.Glu261Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474357C>A | CA392320337 | FBN1 | c.4108G>T (p.Gly1370Ter) n.2782G>T c.780G>T (p.Met260Ile) | COSMIC |
| 15 | g.48474357C>G | CA392320338 | FBN1 | c.4108G>C (p.Gly1370Arg) n.2782G>C c.780G>C (p.Met260Ile) | |
| 15 | g.48474357C>T | CA392320339 | FBN1 | c.4108G>A (p.Gly1370Arg) n.2782G>A c.780G>A (p.Met260Ile) | |
| 15 | g.48474358A= | CA2175495479 | FBN1 | c.4107T= (p.Asn1369=) n.2781T= c.779T= (p.Met260=) | |
| 15 | g.48474358A>C | CA392320340 | FBN1 | c.4107T>G (p.Asn1369Lys) n.2781T>G c.779T>G (p.Met260Arg) | |
| 15 | g.48474358A>G | CA490014868 | FBN1 | c.4107T>C (p.Asn1369=) n.2781T>C c.779T>C (p.Met260Thr) | ClinVar dbSNP |
| 15 | g.48474358A>T | CA052096 | FBN1 | c.4107T>A (p.Asn1369Lys) n.2781T>A c.779T>A (p.Met260Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474358_48474361dup | CA2628334479 | FBN1 | c.4104_4107dup (p.Gly1370GlnfsTer30) n.2778_2781dup c.776_779dup (p.Met260IlefsTer?) | gnomAD v4 |
| 15 | g.48474359T>A | CA392320341 | FBN1 | c.4106A>T (p.Asn1369Ile) n.2780A>T c.778A>T (p.Met260Leu) | dbSNP |
| 15 | g.48474359T>C | CA014768 | FBN1 | c.4106A>G (p.Asn1369Ser) n.2780A>G c.778A>G (p.Met260Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474359T>G | CA392320342 | FBN1 | c.4106A>C (p.Asn1369Thr) n.2780A>C c.778A>C (p.Met260Leu) | |
| 15 | g.48474359T= | CA2175495481 | FBN1 | c.4106A= (p.Asn1369=) n.2780A= c.778A= (p.Met260=) | |
| 15 | g.48474360T>A | CA392320343 | FBN1 | c.4105A>T (p.Asn1369Tyr) n.2779A>T c.777A>T (p.Pro259=) | |
| 15 | g.48474360T>C | CA392320344 | FBN1 | c.4105A>G (p.Asn1369Asp) n.2779A>G c.777A>G (p.Pro259=) | |
| 15 | g.48474360T>G | CA392320345 | FBN1 | c.4105A>C (p.Asn1369His) n.2779A>C c.777A>C (p.Pro259=) | |
| 15 | g.48474360_48474363delinsTGGA | CA2175495485 | FBN1 | c.4102_4105delinsTCCA (p.Ser1368=) n.2776_2779delinsTCCA c.774_777delinsTCCA (p.Val258=) | |
| 15 | g.48474361G>A | CA490014871 | FBN1 | c.4104C>T (p.Ser1368=) n.2778C>T c.776C>T (p.Pro259Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474361G>C | CA490014872 | FBN1 | c.4104C>G (p.Ser1368=) n.2778C>G c.776C>G (p.Pro259Arg) | |
| 15 | g.48474361G= | CA2175495493 | FBN1 | c.4104C= (p.Ser1368=) n.2778C= c.776C= (p.Pro259=) | |
| 15 | g.48474361G>T | CA490014873 | FBN1 | c.4104C>A (p.Ser1368=) n.2778C>A c.776C>A (p.Pro259Gln) | |
| 15 | g.48474361_48474363del | CA052081 | FBN1 | c.4102_4104del (p.Ser1368del) n.2776_2778del c.774_776del (p.Pro259del) | dbSNP ExAC gnomAD v2 |
| 15 | g.48474362G>A | CA392320348 | FBN1 | c.4103C>T (p.Ser1368Phe) n.2777C>T c.775C>T (p.Pro259Ser) | |
| 15 | g.48474362G>C | CA392320347 | FBN1 | c.4103C>G (p.Ser1368Cys) n.2777C>G c.775C>G (p.Pro259Ala) | |
| 15 | g.48474362G>T | CA392320346 | FBN1 | c.4103C>A (p.Ser1368Tyr) n.2777C>A c.775C>A (p.Pro259Thr) | |
| 15 | g.48474363A>C | CA392320349 | FBN1 | c.4102T>G (p.Ser1368Ala) n.2776T>G c.774T>G (p.Val258=) | |
| 15 | g.48474363A>G | CA392320350 | FBN1 | c.4102T>C (p.Ser1368Pro) n.2776T>C c.774T>C (p.Val258=) | |
| 15 | g.48474363A>T | CA392320351 | FBN1 | c.4102T>A (p.Ser1368Thr) n.2776T>A c.774T>A (p.Val258=) | |
| 15 | g.48474364A>C | CA392320352 | FBN1 | c.4101T>G (p.Cys1367Trp) n.2775T>G c.773T>G (p.Val258Gly) | |
| 15 | g.48474364A>G | CA490014877 | FBN1 | c.4101T>C (p.Cys1367=) n.2775T>C c.773T>C (p.Val258Ala) | |
| 15 | g.48474364A>T | CA392320353 | FBN1 | c.4101T>A (p.Cys1367Ter) n.2775T>A c.773T>A (p.Val258Asp) | ClinVar |
| 15 | g.48474365C>A | CA392320354 | FBN1 | c.4100G>T (p.Cys1367Phe) n.2774G>T c.772G>T (p.Val258Phe) | |
| 15 | g.48474365C>G | CA392320355 | FBN1 | c.4100G>C (p.Cys1367Ser) n.2774G>C c.772G>C (p.Val258Leu) | |
| 15 | g.48474365C>T | CA392320356 | FBN1 | c.4100G>A (p.Cys1367Tyr) n.2774G>A c.772G>A (p.Val258Ile) | ClinVar dbSNP |
| 15 | g.48474366A= | CA2175495501 | FBN1 | c.4099T= (p.Cys1367=) n.2773T= c.771T= (p.Asn257=) | |
| 15 | g.48474366A>C | CA392320357 | FBN1 | c.4099T>G (p.Cys1367Gly) n.2773T>G c.771T>G (p.Asn257Lys) | |
| 15 | g.48474366A>G | CA392320358 | FBN1 | c.4099T>C (p.Cys1367Arg) n.2773T>C c.771T>C (p.Asn257=) | ClinVar dbSNP |
| 15 | g.48474366A>T | CA392320359 | FBN1 | c.4099T>A (p.Cys1367Ser) n.2773T>A c.771T>A (p.Asn257Lys) | ClinVar dbSNP |
| 15 | g.48474367T>A | CA392320360 | FBN1 | c.4098A>T (p.Glu1366Asp) n.2772A>T c.770A>T (p.Asn257Ile) | |
| 15 | g.48474367T>C | CA490014880 | FBN1 | c.4098A>G (p.Glu1366=) n.2772A>G c.770A>G (p.Asn257Ser) | gnomAD v4 |
| 15 | g.48474367T>G | CA392320361 | FBN1 | c.4098A>C (p.Glu1366Asp) n.2772A>C c.770A>C (p.Asn257Thr) | |
| 15 | g.48474368dup | CA2740096596 | FBN1 | c.4098dup (p.Cys1367MetfsTer?) n.2772dup c.770dup (p.Asn257LysfsTer?) | ClinVar |
| 15 | g.48474368T>A | CA392320364 | FBN1 | c.4097A>T (p.Glu1366Val) n.2771A>T c.769A>T (p.Asn257Tyr) | |
| 15 | g.48474368T>C | CA392320362 | FBN1 | c.4097A>G (p.Glu1366Gly) n.2771A>G c.769A>G (p.Asn257Asp) | |
| 15 | g.48474368T>G | CA392320363 | FBN1 | c.4097A>C (p.Glu1366Ala) n.2771A>C c.769A>C (p.Asn257His) | |
| 15 | g.48474369C>A | CA392320365 | FBN1 | c.4096G>T (p.Glu1366Ter) n.2770G>T c.768G>T (p.Thr256=) | |
| 15 | g.48474369C= | CA2175495524 | FBN1 | c.4096G= (p.Glu1366=) n.2770G= c.768G= (p.Thr256=) | |
| 15 | g.48474369C>G | CA052073 | FBN1 | c.4096G>C (p.Glu1366Gln) n.2770G>C c.768G>C (p.Thr256=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474369C>T | CA014760 | FBN1 | c.4096G>A (p.Glu1366Lys) n.2770G>A c.768G>A (p.Thr256=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48474370G>A | CA052067 | FBN1 | c.4095C>T (p.Asp1365=) n.2769C>T c.767C>T (p.Thr256Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48474370G>C | CA392320366 | FBN1 | c.4095C>G (p.Asp1365Glu) n.2769C>G c.767C>G (p.Thr256Arg) | |
| 15 | g.48474370G= | CA2175495528 | FBN1 | c.4095C= (p.Asp1365=) n.2769C= c.767C= (p.Thr256=) | |
| 15 | g.48474370G>T | CA392320367 | FBN1 | c.4095C>A (p.Asp1365Glu) n.2769C>A c.767C>A (p.Thr256Lys) | |
| 15 | g.48474371T>A | CA392320368 | FBN1 | c.4094A>T (p.Asp1365Val) n.2768A>T c.766A>T (p.Thr256Ser) | |
| 15 | g.48474371T>C | CA014752 | FBN1 | c.4094A>G (p.Asp1365Gly) n.2768A>G c.766A>G (p.Thr256Ala) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48474371T>G | CA392320369 | FBN1 | c.4094A>C (p.Asp1365Ala) n.2768A>C c.766A>C (p.Thr256Pro) | |
| 15 | g.48474371T= | CA2175495535 | FBN1 | c.4094A= (p.Asp1365=) n.2768A= c.766A= (p.Thr256=) | |
| 15 | g.48474371_48474377del | CA2695220634 | FBN1 | c.4088_4094del (p.Asp1363AlafsTer?) n.2762_2768del c.760_766del (p.Ile254ArgfsTer?) | |
| 15 | g.48474372C>A | CA392320370 | FBN1 | c.4093G>T (p.Asp1365Tyr) n.2767G>T c.765G>T (p.Trp255Cys) | |
| 15 | g.48474372C>G | CA392320371 | FBN1 | c.4093G>C (p.Asp1365His) n.2767G>C c.765G>C (p.Trp255Cys) | |
| 15 | g.48474372C>T | CA392320372 | FBN1 | c.4093G>A (p.Asp1365Asn) n.2767G>A c.765G>A (p.Trp255Ter) | |
| 15 | g.48474373C>A | CA490014887 | FBN1 | c.4092G>T (p.Leu1364=) n.2766G>T c.764G>T (p.Trp255Leu) | |
| 15 | g.48474373C>G | CA490014889 | FBN1 | c.4092G>C (p.Leu1364=) n.2766G>C c.764G>C (p.Trp255Ser) | |
| 15 | g.48474373C>T | CA490014886 | FBN1 | c.4092G>A (p.Leu1364=) n.2766G>A c.764G>A (p.Trp255Ter) | gnomAD v4 |
| 15 | g.48474374A>C | CA392320375 | FBN1 | c.4091T>G (p.Leu1364Arg) n.2765T>G c.763T>G (p.Trp255Gly) | |
| 15 | g.48474374A>G | CA392320374 | FBN1 | c.4091T>C (p.Leu1364Pro) n.2765T>C c.763T>C (p.Trp255Arg) | |
| 15 | g.48474374A>T | CA392320373 | FBN1 | c.4091T>A (p.Leu1364Gln) n.2765T>A c.763T>A (p.Trp255Arg) | COSMIC |
| 15 | g.48474375G>A | CA490014891 | FBN1 | c.4090C>T (p.Leu1364=) n.2764C>T c.762C>T (p.Ile254=) | |
| 15 | g.48474375G>C | CA392320376 | FBN1 | c.4090C>G (p.Leu1364Val) n.2764C>G c.762C>G (p.Ile254Met) | |
| 15 | g.48474375G>T | CA392320377 | FBN1 | c.4090C>A (p.Leu1364Met) n.2764C>A c.762C>A (p.Ile254=) | |
| 15 | g.48474376A= | CA2175495544 | FBN1 | c.4089T= (p.Asp1363=) n.2763T= c.761T= (p.Ile254=) | |
| 15 | g.48474376A>C | CA392320378 | FBN1 | c.4089T>G (p.Asp1363Glu) n.2763T>G c.761T>G (p.Ile254Ser) | |
| 15 | g.48474376A>G | CA052060 | FBN1 | c.4089T>C (p.Asp1363=) n.2763T>C c.761T>C (p.Ile254Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474376A>T | CA392320379 | FBN1 | c.4089T>A (p.Asp1363Glu) n.2763T>A c.761T>A (p.Ile254Asn) | |
| 15 | g.48474377T>A | CA392320380 | FBN1 | c.4088A>T (p.Asp1363Val) n.2762A>T c.760A>T (p.Ile254Phe) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48474377T>C | CA392320382 | FBN1 | c.4088A>G (p.Asp1363Gly) n.2762A>G c.760A>G (p.Ile254Val) | |
| 15 | g.48474377T>G | CA392320381 | FBN1 | c.4088A>C (p.Asp1363Ala) n.2762A>C c.760A>C (p.Ile254Leu) | |
| 15 | g.48474377T= | CA2175495550 | FBN1 | c.4088A= (p.Asp1363=) n.2762A= c.760A= (p.Ile254=) | |
| 15 | g.48474378C>A | CA392320383 | FBN1 | c.4088-1G>T (n.4088-1G>T) n.2762-1G>T c.760-1G>T (n.760-1G>T) | |
| 15 | g.48474378C= | CA2175495561 | FBN1 | c.4088-1G= (n.4088-1G=) n.2762-1G= c.760-1G= (n.760-1G=) | |
| 15 | g.48474378C>G | CA392320385 | FBN1 | c.4088-1G>C (n.4088-1G>C) n.2762-1G>C c.760-1G>C (n.760-1G>C) | |
| 15 | g.48474378C>T | CA392320384 | FBN1 | c.4088-1G>A (n.4088-1G>A) n.2762-1G>A c.760-1G>A (n.760-1G>A) | |
| 15 | g.48474378_48474379insAGTGCACTTAATGCCATCTCCAA | CA2175495573 | FBN1 | c.4088-2_4088-1insTTGGAGATGGCATTAAGTGCACT (n.4088-2_4088-1insTTGGAGATGGCATTAAGTGCACT) n.2762-2_2762-1insTTGGAGATGGCATTAAGTGCACT c.760-2_760-1insTTGGAGATGGCATTAAGTGCACT (n.760-2_760-1insTTGGAGATGGCATTAAGTGCACT) | dbSNP |
| 15 | g.48474379T>A | CA392320386 | FBN1 | c.4088-2A>T (n.4088-2A>T) n.2762-2A>T c.760-2A>T (n.760-2A>T) | |
| 15 | g.48474379T>C | CA392320387 | FBN1 | c.4088-2A>G (n.4088-2A>G) n.2762-2A>G c.760-2A>G (n.760-2A>G) | ClinVar |
| 15 | g.48474379T>G | CA392320388 | FBN1 | c.4088-2A>C (n.4088-2A>C) n.2762-2A>C c.760-2A>C (n.760-2A>C) | ClinVar dbSNP |
| 15 | g.48474379T= | CA2175495565 | FBN1 | c.4088-2A= (n.4088-2A=) n.2762-2A= c.760-2A= (n.760-2A=) | |
| 15 | g.48474380T>C | CA617833886 | FBN1 | c.4088-3A>G (n.4088-3A>G) n.2762-3A>G c.760-3A>G (n.760-3A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474380T= | CA2175495574 | FBN1 | c.4088-3A= (n.4088-3A=) n.2762-3A= c.760-3A= (n.760-3A=) | |
| 15 | g.48474382T>C | CA052041 | FBN1 | c.4088-5A>G (n.4088-5A>G) n.2762-5A>G c.760-5A>G (n.760-5A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48474382T>G | CA2628334480 | FBN1 | c.4088-5A>C (n.4088-5A>C) n.2762-5A>C c.760-5A>C (n.760-5A>C) | gnomAD v4 |
| 15 | g.48474382T= | CA2175495576 | FBN1 | c.4088-5A= (n.4088-5A=) n.2762-5A= c.760-5A= (n.760-5A=) | |
| 15 | g.48474382_48474384delinsTAG | CA2175495579 | FBN1 | c.4088-7_4088-5delinsCTA (n.4088-7_4088-5delinsCTA) n.2762-7_2762-5delinsCTA c.760-7_760-5delinsCTA (n.760-7_760-5delinsCTA) | |
| 15 | g.48474383A= | CA2175495582 | FBN1 | c.4088-6T= (n.4088-6T=) n.2762-6T= c.760-6T= (n.760-6T=) | |
| 15 | g.48474383A>G | CA269520464 | FBN1 | c.4088-6T>C (n.4088-6T>C) n.2762-6T>C c.760-6T>C (n.760-6T>C) | ClinVar dbSNP |
| 15 | g.48474384_48474385del | CA919548736 | FBN1 | c.4088-7_4088-6del (n.4088-7_4088-6del) n.2762-7_2762-6del c.760-7_760-6del (n.760-7_760-6del) | dbSNP gnomAD v4 |
| 15 | g.48474384G>C | CA2628334481 | FBN1 | c.4088-7C>G (n.4088-7C>G) n.2762-7C>G c.760-7C>G (n.760-7C>G) | gnomAD v4 |
| 15 | g.48474384_48474385delinsGA | CA2175495587 | FBN1 | c.4088-8_4088-7delinsTC (n.4088-8_4088-7delinsTC) n.2762-8_2762-7delinsTC c.760-8_760-7delinsTC (n.760-8_760-7delinsTC) | |
| 15 | g.48474385A= | CA2175495595 | FBN1 | c.4088-8T= (n.4088-8T=) n.2762-8T= c.760-8T= (n.760-8T=) | |
| 15 | g.48474385A>G | CA052050 | FBN1 | c.4088-8T>C (n.4088-8T>C) n.2762-8T>C c.760-8T>C (n.760-8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474389del | CA713414225 | FBN1 | c.4088-8del (n.4088-8del) n.2762-8del c.760-8del (n.760-8del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48474387A>G | CA2628334482 | FBN1 | c.4088-10T>C (n.4088-10T>C) n.2762-10T>C c.760-10T>C (n.760-10T>C) | gnomAD v4 |
| 15 | g.48474390G>A | CA2580089714 | FBN1 | c.4088-13C>T (n.4088-13C>T) n.2762-13C>T c.760-13C>T (n.760-13C>T) | ClinVar |
| 15 | g.48474390G>C | CA2628334483 | FBN1 | c.4088-13C>G (n.4088-13C>G) n.2762-13C>G c.760-13C>G (n.760-13C>G) | gnomAD v4 |
| 15 | g.48474391del | CA2575717224 | FBN1 | c.4088-13del (n.4088-13del) n.2762-13del c.760-13del (n.760-13del) | |
| 15 | g.48474391G= | CA2175495598 | FBN1 | c.4088-14C= (n.4088-14C=) n.2762-14C= c.760-14C= (n.760-14C=) | |
| 15 | g.48474391G>T | CA617833887 | FBN1 | c.4088-14C>A (n.4088-14C>A) n.2762-14C>A c.760-14C>A (n.760-14C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474392T>G | CA617833888 | FBN1 | c.4088-15A>C (n.4088-15A>C) n.2762-15A>C c.760-15A>C (n.760-15A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474392T= | CA2175495601 | FBN1 | c.4088-15A= (n.4088-15A=) n.2762-15A= c.760-15A= (n.760-15A=) | |
| 15 | g.48474393T>A | CA2628334484 | FBN1 | c.4088-16A>T (n.4088-16A>T) n.2762-16A>T c.760-16A>T (n.760-16A>T) | gnomAD v4 |
| 15 | g.48474393T>C | CA2628334485 | FBN1 | c.4088-16A>G (n.4088-16A>G) n.2762-16A>G c.760-16A>G (n.760-16A>G) | gnomAD v4 |
| 15 | g.48474394A= | CA2175495606 | FBN1 | c.4088-17T= (n.4088-17T=) n.2762-17T= c.760-17T= (n.760-17T=) | |
| 15 | g.48474394A>G | CA713414237 | FBN1 | c.4088-17T>C (n.4088-17T>C) n.2762-17T>C c.760-17T>C (n.760-17T>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48474395T>C | CA656135695 | FBN1 | c.4088-18A>G (n.4088-18A>G) n.2762-18A>G c.760-18A>G (n.760-18A>G) | dbSNP gnomAD v4 COSMIC |
| 15 | g.48474395T= | CA2175495613 | FBN1 | c.4088-18A= (n.4088-18A=) n.2762-18A= c.760-18A= (n.760-18A=) | |
| 15 | g.48474397T>A | CA269520471 | FBN1 | c.4088-20A>T (n.4088-20A>T) n.2762-20A>T c.760-20A>T (n.760-20A>T) | dbSNP |
| 15 | g.48474397T>C | CA2628334486 | FBN1 | c.4088-20A>G (n.4088-20A>G) n.2762-20A>G c.760-20A>G (n.760-20A>G) | gnomAD v4 |
| 15 | g.48474397T= | CA2175495616 | FBN1 | c.4088-20A= (n.4088-20A=) n.2762-20A= c.760-20A= (n.760-20A=) | |
| 15 | g.48474397_48474398delinsTC | CA2175495620 | FBN1 | c.4088-21_4088-20delinsGA (n.4088-21_4088-20delinsGA) n.2762-21_2762-20delinsGA c.760-21_760-20delinsGA (n.760-21_760-20delinsGA) | |
| 15 | g.48474398del | CA052019 | FBN1 | c.4088-21del (n.4088-21del) n.2762-21del c.760-21del (n.760-21del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474398C>T | CA2804072258 | FBN1 | c.4088-21G>A (n.4088-21G>A) n.2762-21G>A c.760-21G>A (n.760-21G>A) | |
| 15 | g.48474398_48474401delinsCATT | CA2175495624 | FBN1 | c.4088-24_4088-21delinsAATG (n.4088-24_4088-21delinsAATG) n.2762-24_2762-21delinsAATG c.760-24_760-21delinsAATG (n.760-24_760-21delinsAATG) | |
| 15 | g.48474399del | CA392320389 | FBN1 | c.4088-22del (n.4088-22del) n.2762-22del c.760-22del (n.760-22del) | |
| 15 | g.48474399A= | CA2175495629 | FBN1 | c.4088-22T= (n.4088-22T=) n.2762-22T= c.760-22T= (n.760-22T=) | |
| 15 | g.48474399A>C | CA2175495628 | FBN1 | c.4088-22T>G (n.4088-22T>G) n.2762-22T>G c.760-22T>G (n.760-22T>G) | dbSNP |
| 15 | g.48474403_48474405del | CA617833889 | FBN1 | c.4088-24_4088-22del (n.4088-24_4088-22del) n.2762-24_2762-22del c.760-24_760-22del (n.760-24_760-22del) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474400_48474410del | CA2804072267 | FBN1 | c.4088-32_4088-22del (n.4088-32_4088-22del) n.2762-32_2762-22del c.760-32_760-22del (n.760-32_760-22del) | |
| 15 | g.48474400T>A | CA2628334487 | FBN1 | c.4088-23A>T (n.4088-23A>T) n.2762-23A>T c.760-23A>T (n.760-23A>T) | gnomAD v4 |
| 15 | g.48474400T>C | CA2575717226 | FBN1 | c.4088-23A>G (n.4088-23A>G) n.2762-23A>G c.760-23A>G (n.760-23A>G) | |
| 15 | g.48474400_48474402delinsTTA | CA2175495632 | FBN1 | c.4088-25_4088-23delinsTAA (n.4088-25_4088-23delinsTAA) n.2762-25_2762-23delinsTAA c.760-25_760-23delinsTAA (n.760-25_760-23delinsTAA) | |
| 15 | g.48474402_48474403del | CA2175495640 | FBN1 | c.4088-25_4088-24del (n.4088-25_4088-24del) n.2762-25_2762-24del c.760-25_760-24del (n.760-25_760-24del) | dbSNP |
| 15 | g.48474406A= | CA2175495641 | FBN1 | c.4088-29T= (n.4088-29T=) n.2762-29T= c.760-29T= (n.760-29T=) | |
| 15 | g.48474406_48474407insATAC | CA2175495647 | FBN1 | c.4088-30_4088-29insGTAT (n.4088-30_4088-29insGTAT) n.2762-30_2762-29insGTAT c.760-30_760-29insGTAT (n.760-30_760-29insGTAT) | dbSNP |
| 15 | g.48474407C>A | CA052023 | FBN1 | c.4088-30G>T (n.4088-30G>T) n.2762-30G>T c.760-30G>T (n.760-30G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474407C= | CA2175495648 | FBN1 | c.4088-30G= (n.4088-30G=) n.2762-30G= c.760-30G= (n.760-30G=) | |
| 15 | g.48474407C>T | CA617833890 | FBN1 | c.4088-30G>A (n.4088-30G>A) n.2762-30G>A c.760-30G>A (n.760-30G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474410A= | CA2175495650 | FBN1 | c.4088-33T= (n.4088-33T=) n.2762-33T= c.760-33T= (n.760-33T=) | |
| 15 | g.48474410A>T | CA2175495652 | FBN1 | c.4088-33T>A (n.4088-33T>A) n.2762-33T>A c.760-33T>A (n.760-33T>A) | dbSNP |
| 15 | g.48474411A= | CA2175495656 | FBN1 | c.4088-34T= (n.4088-34T=) n.2762-34T= c.760-34T= (n.760-34T=) | |
| 15 | g.48474411A>G | CA052028 | FBN1 | c.4088-34T>C (n.4088-34T>C) n.2762-34T>C c.760-34T>C (n.760-34T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474413G= | CA2175495658 | FBN1 | c.4088-36C= (n.4088-36C=) n.2762-36C= c.760-36C= (n.760-36C=) | |
| 15 | g.48474413G>T | CA2175495659 | FBN1 | c.4088-36C>A (n.4088-36C>A) n.2762-36C>A c.760-36C>A (n.760-36C>A) | dbSNP |
| 15 | g.48474414G>A | CA2628334488 | FBN1 | c.4088-37C>T (n.4088-37C>T) n.2762-37C>T c.760-37C>T (n.760-37C>T) | gnomAD v4 |
| 15 | g.48474414G>C | CA2628334489 | FBN1 | c.4088-37C>G (n.4088-37C>G) n.2762-37C>G c.760-37C>G (n.760-37C>G) | gnomAD v4 |
| 15 | g.48474415G>A | CA713414272 | FBN1 | c.4088-38C>T (n.4088-38C>T) n.2762-38C>T c.760-38C>T (n.760-38C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48474415G= | CA2175495660 | FBN1 | c.4088-38C= (n.4088-38C=) n.2762-38C= c.760-38C= (n.760-38C=) | |
| 15 | g.48474415G>T | CA2575717229 | FBN1 | c.4088-38C>A (n.4088-38C>A) n.2762-38C>A c.760-38C>A (n.760-38C>A) | |
| 15 | g.48474417G>A | CA2628334490 | FBN1 | c.4088-40C>T (n.4088-40C>T) n.2762-40C>T c.760-40C>T (n.760-40C>T) | gnomAD v4 |
| 15 | g.48474418G>C | CA2628334491 | FBN1 | c.4088-41C>G (n.4088-41C>G) n.2762-41C>G c.760-41C>G (n.760-41C>G) | gnomAD v4 |
| 15 | g.48474421T>C | CA617833891 | FBN1 | c.4088-44A>G (n.4088-44A>G) n.2762-44A>G c.760-44A>G (n.760-44A>G) | dbSNP gnomAD v2 |
| 15 | g.48474421T= | CA2175495662 | FBN1 | c.4088-44A= (n.4088-44A=) n.2762-44A= c.760-44A= (n.760-44A=) | |
| 15 | g.48474424A>G | CA2628334492 | FBN1 | c.4088-47T>C (n.4088-47T>C) n.2762-47T>C c.760-47T>C (n.760-47T>C) | dbSNP gnomAD v4 |
| 15 | g.48474425A= | CA2175495664 | FBN1 | c.4088-48T= (n.4088-48T=) n.2762-48T= c.760-48T= (n.760-48T=) | |
| 15 | g.48474425A>C | CA269520483 | FBN1 | c.4088-48T>G (n.4088-48T>G) n.2762-48T>G c.760-48T>G (n.760-48T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474426A= | CA2175495669 | FBN1 | c.4088-49T= (n.4088-49T=) n.2762-49T= c.760-49T= (n.760-49T=) | |
| 15 | g.48474426A>G | CA617833892 | FBN1 | c.4088-49T>C (n.4088-49T>C) n.2762-49T>C c.760-49T>C (n.760-49T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474428C>A | CA2628334493 | FBN1 | c.4088-51G>T (n.4088-51G>T) n.2762-51G>T c.760-51G>T (n.760-51G>T) | gnomAD v4 |
| 15 | g.48474428C= | CA2175495677 | FBN1 | c.4088-51G= (n.4088-51G=) n.2762-51G= c.760-51G= (n.760-51G=) | |
| 15 | g.48474428C>T | CA052032 | FBN1 | c.4088-51G>A (n.4088-51G>A) n.2762-51G>A c.760-51G>A (n.760-51G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474429C>G | CA2628334494 | FBN1 | c.4088-52G>C (n.4088-52G>C) n.2762-52G>C c.760-52G>C (n.760-52G>C) | gnomAD v4 |
| 15 | g.48474429_48474430insCTTTCTGTTTT | CA2628334495 | FBN1 | c.4088-53_4088-52insAAAACAGAAAG (n.4088-53_4088-52insAAAACAGAAAG) n.2762-53_2762-52insAAAACAGAAAG c.760-53_760-52insAAAACAGAAAG (n.760-53_760-52insAAAACAGAAAG) | gnomAD v4 |
| 15 | g.48474431A>G | CA2575717234 | FBN1 | c.4088-54T>C (n.4088-54T>C) n.2762-54T>C c.760-54T>C (n.760-54T>C) | gnomAD v4 |
| 15 | g.48474431_48474432insATTAAATATTAACAGAAAGGGTGGTATTTAAAACCC | CA2628334496 | FBN1 | c.4088-55_4088-54insGGGTTTTAAATACCACCCTTTCTGTTAATATTTAAT (n.4088-55_4088-54insGGGTTTTAAATACCACCCTTTCTGTTAATATTTAAT) n.2762-55_2762-54insGGGTTTTAAATACCACCCTTTCTGTTAATATTTAAT c.760-55_760-54insGGGTTTTAAATACCACCCTTTCTGTTAATATTTAAT (n.760-55_760-54insGGGTTTTAAATACCACCCTTTCTGTTAATATTTAAT) | gnomAD v4 |
| 15 | g.48474437C>T | CA2575717236 | FBN1 | c.4088-60G>A (n.4088-60G>A) n.2762-60G>A c.760-60G>A (n.760-60G>A) | gnomAD v4 |
| 15 | g.48474439C>G | CA2628334497 | FBN1 | c.4088-62G>C (n.4088-62G>C) n.2762-62G>C c.760-62G>C (n.760-62G>C) | gnomAD v4 |
| 15 | g.48474439_48474444delinsCAAATT | CA2175495683 | FBN1 | c.4088-67_4088-62delinsAATTTG (n.4088-67_4088-62delinsAATTTG) n.2762-67_2762-62delinsAATTTG c.760-67_760-62delinsAATTTG (n.760-67_760-62delinsAATTTG) |