| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48520702T>A | CA490028482 | FBN1 | c.1104A>T (p.Pro368=) c.636+17009A>T (n.636+17009A>T) | gnomAD v4 |
| 15 | g.48520702T>C | CA490028483 | FBN1 | c.1104A>G (p.Pro368=) c.636+17009A>G (n.636+17009A>G) | |
| 15 | g.48520702T>G | CA490028484 | FBN1 | c.1104A>C (p.Pro368=) c.636+17009A>C (n.636+17009A>C) | |
| 15 | g.48520703G>A | CA392347314 | FBN1 | c.1103C>T (p.Pro368Leu) c.636+17008C>T (n.636+17008C>T) | |
| 15 | g.48520703G>C | CA392347310 | FBN1 | c.1103C>G (p.Pro368Arg) c.636+17008C>G (n.636+17008C>G) | |
| 15 | g.48520703G>T | CA392347309 | FBN1 | c.1103C>A (p.Pro368Gln) c.636+17008C>A (n.636+17008C>A) | |
| 15 | g.48520704G>A | CA392347318 | FBN1 | c.1102C>T (p.Pro368Ser) c.636+17007C>T (n.636+17007C>T) | gnomAD v4 |
| 15 | g.48520704G>C | CA392347322 | FBN1 | c.1102C>G (p.Pro368Ala) c.636+17007C>G (n.636+17007C>G) | |
| 15 | g.48520704G>T | CA392347325 | FBN1 | c.1102C>A (p.Pro368Thr) c.636+17007C>A (n.636+17007C>A) | |
| 15 | g.48520705A>C | CA490028487 | FBN1 | c.1101T>G (p.Ser367=) c.636+17006T>G (n.636+17006T>G) | gnomAD v4 |
| 15 | g.48520705A>G | CA490028485 | FBN1 | c.1101T>C (p.Ser367=) c.636+17006T>C (n.636+17006T>C) | |
| 15 | g.48520705A>T | CA490028486 | FBN1 | c.1101T>A (p.Ser367=) c.636+17006T>A (n.636+17006T>A) | |
| 15 | g.48520706G>A | CA392347328 | FBN1 | c.1100C>T (p.Ser367Phe) c.636+17005C>T (n.636+17005C>T) | ClinVar dbSNP |
| 15 | g.48520706G>C | CA392347329 | FBN1 | c.1100C>G (p.Ser367Cys) c.636+17005C>G (n.636+17005C>G) | |
| 15 | g.48520706G= | CA2175537480 | FBN1 | c.1100C= (p.Ser367=) c.636+17005C= (n.636+17005C=) | |
| 15 | g.48520706G>T | CA392347332 | FBN1 | c.1100C>A (p.Ser367Tyr) c.636+17005C>A (n.636+17005C>A) | |
| 15 | g.48520707A= | CA2175537484 | FBN1 | c.1099T= (p.Ser367=) c.636+17004T= (n.636+17004T=) | |
| 15 | g.48520707A>C | CA392347337 | FBN1 | c.1099T>G (p.Ser367Ala) c.636+17004T>G (n.636+17004T>G) | |
| 15 | g.48520707A>G | CA392347340 | FBN1 | c.1099T>C (p.Ser367Pro) c.636+17004T>C (n.636+17004T>C) | ClinVar dbSNP |
| 15 | g.48520707A>T | CA392347346 | FBN1 | c.1099T>A (p.Ser367Thr) c.636+17004T>A (n.636+17004T>A) | |
| 15 | g.48520708C>A | CA392347350 | FBN1 | c.1098G>T (p.Trp366Cys) c.636+17003G>T (n.636+17003G>T) | ClinVar dbSNP |
| 15 | g.48520708C= | CA2175537493 | FBN1 | c.1098G= (p.Trp366=) c.636+17003G= (n.636+17003G=) | |
| 15 | g.48520708C>G | CA392347353 | FBN1 | c.1098G>C (p.Trp366Cys) c.636+17003G>C (n.636+17003G>C) | ClinVar dbSNP |
| 15 | g.48520708C>T | CA392347355 | FBN1 | c.1098G>A (p.Trp366Ter) c.636+17003G>A (n.636+17003G>A) | |
| 15 | g.48520709C>A | CA392347363 | FBN1 | c.1097G>T (p.Trp366Leu) c.636+17002G>T (n.636+17002G>T) | gnomAD v4 |
| 15 | g.48520709C>G | CA392347366 | FBN1 | c.1097G>C (p.Trp366Ser) c.636+17002G>C (n.636+17002G>C) | ClinVar |
| 15 | g.48520709C>T | CA392347360 | FBN1 | c.1097G>A (p.Trp366Ter) c.636+17002G>A (n.636+17002G>A) | |
| 15 | g.48520710A>C | CA392347370 | FBN1 | c.1096T>G (p.Trp366Gly) c.636+17001T>G (n.636+17001T>G) | |
| 15 | g.48520710A>G | CA392347382 | FBN1 | c.1096T>C (p.Trp366Arg) c.636+17001T>C (n.636+17001T>C) | ClinVar dbSNP |
| 15 | g.48520710A>T | CA392347385 | FBN1 | c.1096T>A (p.Trp366Arg) c.636+17001T>A (n.636+17001T>A) | |
| 15 | g.48520711G>A | CA490028488 | FBN1 | c.1095C>T (p.Cys365=) c.636+17000C>T (n.636+17000C>T) | gnomAD v4 |
| 15 | g.48520711G>C | CA392347389 | FBN1 | c.1095C>G (p.Cys365Trp) c.636+17000C>G (n.636+17000C>G) | |
| 15 | g.48520711G= | CA2175537501 | FBN1 | c.1095C= (p.Cys365=) c.636+17000C= (n.636+17000C=) | |
| 15 | g.48520711G>T | CA011950 | FBN1 | c.1095C>A (p.Cys365Ter) c.636+17000C>A (n.636+17000C>A) | ClinVar dbSNP |
| 15 | g.48520712C>A | CA392347401 | FBN1 | c.1094G>T (p.Cys365Phe) c.636+16999G>T (n.636+16999G>T) | |
| 15 | g.48520712C>G | CA392347395 | FBN1 | c.1094G>C (p.Cys365Ser) c.636+16999G>C (n.636+16999G>C) | |
| 15 | g.48520712C>T | CA392347398 | FBN1 | c.1094G>A (p.Cys365Tyr) c.636+16999G>A (n.636+16999G>A) | |
| 15 | g.48520713_48520715dup | CA2695220331 | FBN1 | c.1092_1094dup (p.Cys365Ter) c.636+16997_636+16999dup (n.636+16997_636+16999dup) | |
| 15 | g.48520713A>C | CA392347405 | FBN1 | c.1093T>G (p.Cys365Gly) c.636+16998T>G (n.636+16998T>G) | |
| 15 | g.48520713A>G | CA392347408 | FBN1 | c.1093T>C (p.Cys365Arg) c.636+16998T>C (n.636+16998T>C) | |
| 15 | g.48520713A>T | CA392347410 | FBN1 | c.1093T>A (p.Cys365Ser) c.636+16998T>A (n.636+16998T>A) | |
| 15 | g.48520714T>A | CA490028489 | FBN1 | c.1092A>T (p.Arg364=) c.636+16997A>T (n.636+16997A>T) | |
| 15 | g.48520714T>C | CA490028490 | FBN1 | c.1092A>G (p.Arg364=) c.636+16997A>G (n.636+16997A>G) | |
| 15 | g.48520714T>G | CA490028491 | FBN1 | c.1092A>C (p.Arg364=) c.636+16997A>C (n.636+16997A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520714T= | CA2175537506 | FBN1 | c.1092A= (p.Arg364=) c.636+16997A= (n.636+16997A=) | |
| 15 | g.48520715C>A | CA392347416 | FBN1 | c.1091G>T (p.Arg364Leu) c.636+16996G>T (n.636+16996G>T) | |
| 15 | g.48520715C= | CA2175537513 | FBN1 | c.1091G= (p.Arg364=) c.636+16996G= (n.636+16996G=) | |
| 15 | g.48520715C>G | CA011939 | FBN1 | c.1091G>C (p.Arg364Pro) c.636+16996G>C (n.636+16996G>C) | ClinVar dbSNP |
| 15 | g.48520715C>T | CA043494 | FBN1 | c.1091G>A (p.Arg364Gln) c.636+16996G>A (n.636+16996G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520715_48520716delinsCG | CA2175537519 | FBN1 | c.1090_1091delinsCG (p.Arg364=) c.636+16995_636+16996delinsCG (n.636+16995_636+16996delinsCG) | |
| 15 | g.48520716G>A | CA011930 | FBN1 | c.1090C>T (p.Arg364Ter) c.636+16995C>T (n.636+16995C>T) | ClinVar dbSNP |
| 15 | g.48520716G>C | CA392347425 | FBN1 | c.1090C>G (p.Arg364Gly) c.636+16995C>G (n.636+16995C>G) | ClinVar dbSNP |
| 15 | g.48520716G= | CA2175537529 | FBN1 | c.1090C= (p.Arg364=) c.636+16995C= (n.636+16995C=) | |
| 15 | g.48520716G>T | CA490028492 | FBN1 | c.1090C>A (p.Arg364=) c.636+16995C>A (n.636+16995C>A) | |
| 15 | g.48520717del | CA1139663983 | FBN1 | c.1090del (p.Arg364AspfsTer?) c.636+16995del (n.636+16995del) | ClinVar dbSNP |
| 15 | g.48520717G>A | CA490028493 | FBN1 | c.1089C>T (p.Gly363=) c.636+16994C>T (n.636+16994C>T) | gnomAD v4 |
| 15 | g.48520717G>C | CA490028495 | FBN1 | c.1089C>G (p.Gly363=) c.636+16994C>G (n.636+16994C>G) | |
| 15 | g.48520717G= | CA2175537537 | FBN1 | c.1089C= (p.Gly363=) c.636+16994C= (n.636+16994C=) | |
| 15 | g.48520717G>T | CA490028494 | FBN1 | c.1089C>A (p.Gly363=) c.636+16994C>A (n.636+16994C>A) | ClinVar dbSNP |
| 15 | g.48520717_48520718delinsGC | CA2175537535 | FBN1 | c.1088_1089delinsGC (p.Gly363=) c.636+16993_636+16994delinsGC (n.636+16993_636+16994delinsGC) | |
| 15 | g.48520719_48520733del | CA2580089579 | FBN1 | c.1075_1089del (p.Cys359_Gly363del) c.636+16980_636+16994del (n.636+16980_636+16994del) | ClinVar |
| 15 | g.48520718C>A | CA392347430 | FBN1 | c.1088G>T (p.Gly363Val) c.636+16993G>T (n.636+16993G>T) | |
| 15 | g.48520718C>G | CA392347431 | FBN1 | c.1088G>C (p.Gly363Ala) c.636+16993G>C (n.636+16993G>C) | |
| 15 | g.48520718C>T | CA392347434 | FBN1 | c.1088G>A (p.Gly363Asp) c.636+16993G>A (n.636+16993G>A) | gnomAD v4 |
| 15 | g.48520719del | CA658683888 | FBN1 | c.1088del (p.Gly363AlafsTer?) c.636+16993del (n.636+16993del) | ClinVar dbSNP |
| 15 | g.48520719C>A | CA392347437 | FBN1 | c.1087G>T (p.Gly363Cys) c.636+16992G>T (n.636+16992G>T) | |
| 15 | g.48520719C= | CA2175537542 | FBN1 | c.1087G= (p.Gly363=) c.636+16992G= (n.636+16992G=) | |
| 15 | g.48520719C>G | CA392347441 | FBN1 | c.1087G>C (p.Gly363Arg) c.636+16992G>C (n.636+16992G>C) | gnomAD v4 |
| 15 | g.48520719C>T | CA043483 | FBN1 | c.1087G>A (p.Gly363Ser) c.636+16992G>A (n.636+16992G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520720G>A | CA490028496 | FBN1 | c.1086C>T (p.Ala362=) c.636+16991C>T (n.636+16991C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520720G>C | CA490028497 | FBN1 | c.1086C>G (p.Ala362=) c.636+16991C>G (n.636+16991C>G) | |
| 15 | g.48520720G= | CA2175537547 | FBN1 | c.1086C= (p.Ala362=) c.636+16991C= (n.636+16991C=) | |
| 15 | g.48520720G>T | CA490028498 | FBN1 | c.1086C>A (p.Ala362=) c.636+16991C>A (n.636+16991C>A) | |
| 15 | g.48520721_48520732del | CA2695220333 | FBN1 | c.1075_1086del (p.Cys359_Ala362del) c.636+16980_636+16991del (n.636+16980_636+16991del) | |
| 15 | g.48520721G>A | CA392347452 | FBN1 | c.1085C>T (p.Ala362Val) c.636+16990C>T (n.636+16990C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48520721G>C | CA392347447 | FBN1 | c.1085C>G (p.Ala362Gly) c.636+16990C>G (n.636+16990C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520721G= | CA2175537550 | FBN1 | c.1085C= (p.Ala362=) c.636+16990C= (n.636+16990C=) | |
| 15 | g.48520721G>T | CA392347450 | FBN1 | c.1085C>A (p.Ala362Asp) c.636+16990C>A (n.636+16990C>A) | |
| 15 | g.48520722C>A | CA392347456 | FBN1 | c.1084G>T (p.Ala362Ser) c.636+16989G>T (n.636+16989G>T) | |
| 15 | g.48520722C>G | CA392347459 | FBN1 | c.1084G>C (p.Ala362Pro) c.636+16989G>C (n.636+16989G>C) | |
| 15 | g.48520722C>T | CA392347462 | FBN1 | c.1084G>A (p.Ala362Thr) c.636+16989G>A (n.636+16989G>A) | |
| 15 | g.48520723A>C | CA392347466 | FBN1 | c.1083T>G (p.Asp361Glu) c.636+16988T>G (n.636+16988T>G) | |
| 15 | g.48520723A>G | CA490028499 | FBN1 | c.1083T>C (p.Asp361=) c.636+16988T>C (n.636+16988T>C) | |
| 15 | g.48520723A>T | CA392347468 | FBN1 | c.1083T>A (p.Asp361Glu) c.636+16988T>A (n.636+16988T>A) | |
| 15 | g.48520724T>A | CA392347481 | FBN1 | c.1082A>T (p.Asp361Val) c.636+16987A>T (n.636+16987A>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48520724T>C | CA392347472 | FBN1 | c.1082A>G (p.Asp361Gly) c.636+16987A>G (n.636+16987A>G) | |
| 15 | g.48520724T>G | CA392347473 | FBN1 | c.1082A>C (p.Asp361Ala) c.636+16987A>C (n.636+16987A>C) | |
| 15 | g.48520724T= | CA2175537555 | FBN1 | c.1082A= (p.Asp361=) c.636+16987A= (n.636+16987A=) | |
| 15 | g.48520725C>A | CA392347484 | FBN1 | c.1081G>T (p.Asp361Tyr) c.636+16986G>T (n.636+16986G>T) | |
| 15 | g.48520725C>G | CA392347489 | FBN1 | c.1081G>C (p.Asp361His) c.636+16986G>C (n.636+16986G>C) | |
| 15 | g.48520725C>T | CA392347492 | FBN1 | c.1081G>A (p.Asp361Asn) c.636+16986G>A (n.636+16986G>A) | gnomAD v4 |
| 15 | g.48520728_48520735del | CA2573150786 | FBN1 | c.1074_1081del (p.Cys358Ter) c.636+16979_636+16986del (n.636+16979_636+16986del) | ClinVar dbSNP |
| 15 | g.48520726A>C | CA392347497 | FBN1 | c.1080T>G (p.Cys360Trp) c.636+16985T>G (n.636+16985T>G) | |
| 15 | g.48520726A>G | CA490028500 | FBN1 | c.1080T>C (p.Cys360=) c.636+16985T>C (n.636+16985T>C) | |
| 15 | g.48520726A>T | CA392347499 | FBN1 | c.1080T>A (p.Cys360Ter) c.636+16985T>A (n.636+16985T>A) | |
| 15 | g.48520727C>A | CA392347502 | FBN1 | c.1079G>T (p.Cys360Phe) c.636+16984G>T (n.636+16984G>T) | |
| 15 | g.48520727C= | CA2175537560 | FBN1 | c.1079G= (p.Cys360=) c.636+16984G= (n.636+16984G=) | |
| 15 | g.48520727C>G | CA392347505 | FBN1 | c.1079G>C (p.Cys360Ser) c.636+16984G>C (n.636+16984G>C) | |
| 15 | g.48520727C>T | CA392347507 | FBN1 | c.1079G>A (p.Cys360Tyr) c.636+16984G>A (n.636+16984G>A) | ClinVar dbSNP |
| 15 | g.48520728A>C | CA392347514 | FBN1 | c.1078T>G (p.Cys360Gly) c.636+16983T>G (n.636+16983T>G) | |
| 15 | g.48520728A>G | CA392347515 | FBN1 | c.1078T>C (p.Cys360Arg) c.636+16983T>C (n.636+16983T>C) | |
| 15 | g.48520728A>T | CA392347518 | FBN1 | c.1078T>A (p.Cys360Ser) c.636+16983T>A (n.636+16983T>A) | |
| 15 | g.48520729G>A | CA490028501 | FBN1 | c.1077C>T (p.Cys359=) c.636+16982C>T (n.636+16982C>T) | |
| 15 | g.48520729G>C | CA392347521 | FBN1 | c.1077C>G (p.Cys359Trp) c.636+16982C>G (n.636+16982C>G) | |
| 15 | g.48520729G>T | CA392347527 | FBN1 | c.1077C>A (p.Cys359Ter) c.636+16982C>A (n.636+16982C>A) | COSMIC |
| 15 | g.48520730C>A | CA392347533 | FBN1 | c.1076G>T (p.Cys359Phe) c.636+16981G>T (n.636+16981G>T) | ClinVar dbSNP |
| 15 | g.48520730C= | CA2175537566 | FBN1 | c.1076G= (p.Cys359=) c.636+16981G= (n.636+16981G=) | |
| 15 | g.48520730C>G | CA392347538 | FBN1 | c.1076G>C (p.Cys359Ser) c.636+16981G>C (n.636+16981G>C) | |
| 15 | g.48520730C>T | CA392347536 | FBN1 | c.1076G>A (p.Cys359Tyr) c.636+16981G>A (n.636+16981G>A) | ClinVar dbSNP |
| 15 | g.48520731A= | CA2175537571 | FBN1 | c.1075T= (p.Cys359=) c.636+16980T= (n.636+16980T=) | |
| 15 | g.48520731A>C | CA392347542 | FBN1 | c.1075T>G (p.Cys359Gly) c.636+16980T>G (n.636+16980T>G) | |
| 15 | g.48520731A>G | CA392347555 | FBN1 | c.1075T>C (p.Cys359Arg) c.636+16980T>C (n.636+16980T>C) | ClinVar dbSNP |
| 15 | g.48520731A>T | CA392347560 | FBN1 | c.1075T>A (p.Cys359Ser) c.636+16980T>A (n.636+16980T>A) | |
| 15 | g.48520732G>A | CA490028502 | FBN1 | c.1074C>T (p.Cys358=) c.636+16979C>T (n.636+16979C>T) | ClinVar |
| 15 | g.48520732G>C | CA392347564 | FBN1 | c.1074C>G (p.Cys358Trp) c.636+16979C>G (n.636+16979C>G) | ClinVar |
| 15 | g.48520732G= | CA2175537576 | FBN1 | c.1074C= (p.Cys358=) c.636+16979C= (n.636+16979C=) | |
| 15 | g.48520732G>T | CA392347567 | FBN1 | c.1074C>A (p.Cys358Ter) c.636+16979C>A (n.636+16979C>A) | ClinVar dbSNP |
| 15 | g.48520733C>A | CA392347571 | FBN1 | c.1073G>T (p.Cys358Phe) c.636+16978G>T (n.636+16978G>T) | |
| 15 | g.48520733C= | CA2175537582 | FBN1 | c.1073G= (p.Cys358=) c.636+16978G= (n.636+16978G=) | |
| 15 | g.48520733C>G | CA392347574 | FBN1 | c.1073G>C (p.Cys358Ser) c.636+16978G>C (n.636+16978G>C) | |
| 15 | g.48520733C>T | CA392347578 | FBN1 | c.1073G>A (p.Cys358Tyr) c.636+16978G>A (n.636+16978G>A) | ClinVar dbSNP |
| 15 | g.48520734_48520806del | CA2695220334 | FBN1 | c.1001_1073del (p.Gly334AlafsTer?) c.636+16906_636+16978del (n.636+16906_636+16978del) | |
| 15 | g.48520734A>C | CA392347582 | FBN1 | c.1072T>G (p.Cys358Gly) c.636+16977T>G (n.636+16977T>G) | |
| 15 | g.48520734A>G | CA392347587 | FBN1 | c.1072T>C (p.Cys358Arg) c.636+16977T>C (n.636+16977T>C) | |
| 15 | g.48520734A>T | CA392347589 | FBN1 | c.1072T>A (p.Cys358Ser) c.636+16977T>A (n.636+16977T>A) | ClinVar |
| 15 | g.48520735del | CA2695220335 | FBN1 | c.1071del (p.Gln357HisfsTer?) c.636+16976del (n.636+16976del) | |
| 15 | g.48520735C>A | CA392347591 | FBN1 | c.1071G>T (p.Gln357His) c.636+16976G>T (n.636+16976G>T) | |
| 15 | g.48520735C= | CA2175537586 | FBN1 | c.1071G= (p.Gln357=) c.636+16976G= (n.636+16976G=) | |
| 15 | g.48520735C>G | CA392347594 | FBN1 | c.1071G>C (p.Gln357His) c.636+16976G>C (n.636+16976G>C) | |
| 15 | g.48520735C>T | CA490028503 | FBN1 | c.1071G>A (p.Gln357=) c.636+16976G>A (n.636+16976G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520736T>A | CA392347602 | FBN1 | c.1070A>T (p.Gln357Leu) c.636+16975A>T (n.636+16975A>T) | ClinVar dbSNP |
| 15 | g.48520736T>C | CA392347597 | FBN1 | c.1070A>G (p.Gln357Arg) c.636+16975A>G (n.636+16975A>G) | gnomAD v4 |
| 15 | g.48520736T>G | CA392347600 | FBN1 | c.1070A>C (p.Gln357Pro) c.636+16975A>C (n.636+16975A>C) | |
| 15 | g.48520736T= | CA2175537590 | FBN1 | c.1070A= (p.Gln357=) c.636+16975A= (n.636+16975A=) | |
| 15 | g.48520737G>A | CA392347606 | FBN1 | c.1069C>T (p.Gln357Ter) c.636+16974C>T (n.636+16974C>T) | ClinVar dbSNP |
| 15 | g.48520737G>C | CA392347609 | FBN1 | c.1069C>G (p.Gln357Glu) c.636+16974C>G (n.636+16974C>G) | |
| 15 | g.48520737G= | CA2175537596 | FBN1 | c.1069C= (p.Gln357=) c.636+16974C= (n.636+16974C=) | |
| 15 | g.48520737G>T | CA392347612 | FBN1 | c.1069C>A (p.Gln357Lys) c.636+16974C>A (n.636+16974C>A) | |
| 15 | g.48520738C>A | CA392347616 | FBN1 | c.1068G>T (p.Met356Ile) c.636+16973G>T (n.636+16973G>T) | |
| 15 | g.48520738C>G | CA392347618 | FBN1 | c.1068G>C (p.Met356Ile) c.636+16973G>C (n.636+16973G>C) | |
| 15 | g.48520738C>T | CA392347622 | FBN1 | c.1068G>A (p.Met356Ile) c.636+16973G>A (n.636+16973G>A) | |
| 15 | g.48520739A>C | CA392347624 | FBN1 | c.1067T>G (p.Met356Arg) c.636+16972T>G (n.636+16972T>G) | gnomAD v4 |
| 15 | g.48520739A>G | CA392347627 | FBN1 | c.1067T>C (p.Met356Thr) c.636+16972T>C (n.636+16972T>C) | |
| 15 | g.48520739A>T | CA392347629 | FBN1 | c.1067T>A (p.Met356Lys) c.636+16972T>A (n.636+16972T>A) | |
| 15 | g.48520739dup | CA2580089586 | FBN1 | c.1067dup (p.Met356IlefsTer6) c.636+16972dup (n.636+16972dup) | ClinVar |
| 15 | g.48520739_48520740delinsAT | CA2175537601 | FBN1 | c.1066_1067delinsAT (p.Met356=) c.636+16971_636+16972delinsAT (n.636+16971_636+16972delinsAT) | |
| 15 | g.48520739_48520745dup | CA2740096688 | FBN1 | c.1061_1067dup (p.Met356IlefsTer8) c.636+16966_636+16972dup (n.636+16966_636+16972dup) | ClinVar |
| 15 | g.48520740T>A | CA392347635 | FBN1 | c.1066A>T (p.Met356Leu) c.636+16971A>T (n.636+16971A>T) | |
| 15 | g.48520740T>C | CA392347637 | FBN1 | c.1066A>G (p.Met356Val) c.636+16971A>G (n.636+16971A>G) | gnomAD v4 |
| 15 | g.48520740T>G | CA392347639 | FBN1 | c.1066A>C (p.Met356Leu) c.636+16971A>C (n.636+16971A>C) | |
| 15 | g.48520743del | CA658824880 | FBN1 | c.1066del (p.Met356CysfsTer?) c.636+16971del (n.636+16971del) | ClinVar dbSNP |
| 15 | g.48520741T>A | CA392347642 | FBN1 | c.1065A>T (p.Lys355Asn) c.636+16970A>T (n.636+16970A>T) | |
| 15 | g.48520741T>C | CA490028504 | FBN1 | c.1065A>G (p.Lys355=) c.636+16970A>G (n.636+16970A>G) | |
| 15 | g.48520741T>G | CA392347645 | FBN1 | c.1065A>C (p.Lys355Asn) c.636+16970A>C (n.636+16970A>C) | |
| 15 | g.48520742T>A | CA392347650 | FBN1 | c.1064A>T (p.Lys355Ile) c.636+16969A>T (n.636+16969A>T) | |
| 15 | g.48520742T>C | CA392347656 | FBN1 | c.1064A>G (p.Lys355Arg) c.636+16969A>G (n.636+16969A>G) | |
| 15 | g.48520742T>G | CA392347653 | FBN1 | c.1064A>C (p.Lys355Thr) c.636+16969A>C (n.636+16969A>C) | gnomAD v4 |
| 15 | g.48520742_48520748delinsTTGGTTA | CA2175537614 | FBN1 | c.1058_1064delinsTAACCAA (p.Ile353=) c.636+16963_636+16969delinsTAACCAA (n.636+16963_636+16969delinsTAACCAA) | |
| 15 | g.48520743T>A | CA392347660 | FBN1 | c.1063A>T (p.Lys355Ter) c.636+16968A>T (n.636+16968A>T) | |
| 15 | g.48520743T>C | CA392347663 | FBN1 | c.1063A>G (p.Lys355Glu) c.636+16968A>G (n.636+16968A>G) | |
| 15 | g.48520743T>G | CA392347666 | FBN1 | c.1063A>C (p.Lys355Gln) c.636+16968A>C (n.636+16968A>C) | |
| 15 | g.48520746_48520751del | CA618009377 | FBN1 | c.1058_1063del (p.Ile353_Thr354del) c.636+16963_636+16968del (n.636+16963_636+16968del) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520744G>A | CA490028505 | FBN1 | c.1062C>T (p.Thr354=) c.636+16967C>T (n.636+16967C>T) | |
| 15 | g.48520744G>C | CA490028506 | FBN1 | c.1062C>G (p.Thr354=) c.636+16967C>G (n.636+16967C>G) | gnomAD v4 |
| 15 | g.48520744G>T | CA490028507 | FBN1 | c.1062C>A (p.Thr354=) c.636+16967C>A (n.636+16967C>A) | |
| 15 | g.48520745G>A | CA392347671 | FBN1 | c.1061C>T (p.Thr354Ile) c.636+16966C>T (n.636+16966C>T) | |
| 15 | g.48520745G>C | CA011918 | FBN1 | c.1061C>G (p.Thr354Ser) c.636+16966C>G (n.636+16966C>G) | dbSNP |
| 15 | g.48520745G= | CA2175537621 | FBN1 | c.1061C= (p.Thr354=) c.636+16966C= (n.636+16966C=) | |
| 15 | g.48520745G>T | CA392347678 | FBN1 | c.1061C>A (p.Thr354Asn) c.636+16966C>A (n.636+16966C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520746T>A | CA392347688 | FBN1 | c.1060A>T (p.Thr354Ser) c.636+16965A>T (n.636+16965A>T) | |
| 15 | g.48520746T>C | CA043466 | FBN1 | c.1060A>G (p.Thr354Ala) c.636+16965A>G (n.636+16965A>G) | dbSNP ExAC |
| 15 | g.48520746T>G | CA392347691 | FBN1 | c.1060A>C (p.Thr354Pro) c.636+16965A>C (n.636+16965A>C) | |
| 15 | g.48520746T= | CA2175537625 | FBN1 | c.1060A= (p.Thr354=) c.636+16965A= (n.636+16965A=) | |
| 15 | g.48520747T>A | CA490028509 | FBN1 | c.1059A>T (p.Ile353=) c.636+16964A>T (n.636+16964A>T) | gnomAD v4 |
| 15 | g.48520747T>C | CA392347695 | FBN1 | c.1059A>G (p.Ile353Met) c.636+16964A>G (n.636+16964A>G) | |
| 15 | g.48520747T>G | CA490028508 | FBN1 | c.1059A>C (p.Ile353=) c.636+16964A>C (n.636+16964A>C) | |
| 15 | g.48520748A>C | CA392347701 | FBN1 | c.1058T>G (p.Ile353Arg) c.636+16963T>G (n.636+16963T>G) | |
| 15 | g.48520748A>G | CA392347704 | FBN1 | c.1058T>C (p.Ile353Thr) c.636+16963T>C (n.636+16963T>C) | |
| 15 | g.48520748A>T | CA392347707 | FBN1 | c.1058T>A (p.Ile353Lys) c.636+16963T>A (n.636+16963T>A) | |
| 15 | g.48520749T>A | CA392347713 | FBN1 | c.1057A>T (p.Ile353Leu) c.636+16962A>T (n.636+16962A>T) | ClinVar dbSNP |
| 15 | g.48520749T>C | CA043452 | FBN1 | c.1057A>G (p.Ile353Val) c.636+16962A>G (n.636+16962A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520749T>G | CA392347710 | FBN1 | c.1057A>C (p.Ile353Leu) c.636+16962A>C (n.636+16962A>C) | |
| 15 | g.48520749T= | CA2175537630 | FBN1 | c.1057A= (p.Ile353=) c.636+16962A= (n.636+16962A=) | |
| 15 | g.48520750G>A | CA490028510 | FBN1 | c.1056C>T (p.Ser352=) c.636+16961C>T (n.636+16961C>T) | gnomAD v4 |
| 15 | g.48520750G>C | CA490028511 | FBN1 | c.1056C>G (p.Ser352=) c.636+16961C>G (n.636+16961C>G) | |
| 15 | g.48520750G>T | CA490028512 | FBN1 | c.1056C>A (p.Ser352=) c.636+16961C>A (n.636+16961C>A) | |
| 15 | g.48520751G>A | CA392347714 | FBN1 | c.1055C>T (p.Ser352Phe) c.636+16960C>T (n.636+16960C>T) | COSMIC |
| 15 | g.48520751G>C | CA392347716 | FBN1 | c.1055C>G (p.Ser352Cys) c.636+16960C>G (n.636+16960C>G) | |
| 15 | g.48520751G>T | CA392347718 | FBN1 | c.1055C>A (p.Ser352Tyr) c.636+16960C>A (n.636+16960C>A) | |
| 15 | g.48520752A>C | CA392347721 | FBN1 | c.1054T>G (p.Ser352Ala) c.636+16959T>G (n.636+16959T>G) | |
| 15 | g.48520752A>G | CA392347723 | FBN1 | c.1054T>C (p.Ser352Pro) c.636+16959T>C (n.636+16959T>C) | |
| 15 | g.48520752A>T | CA392347725 | FBN1 | c.1054T>A (p.Ser352Thr) c.636+16959T>A (n.636+16959T>A) | |
| 15 | g.48520753C>A | CA392347726 | FBN1 | c.1053G>T (p.Gln351His) c.636+16958G>T (n.636+16958G>T) | |
| 15 | g.48520753C>G | CA392347728 | FBN1 | c.1053G>C (p.Gln351His) c.636+16958G>C (n.636+16958G>C) | |
| 15 | g.48520753C>T | CA490028513 | FBN1 | c.1053G>A (p.Gln351=) c.636+16958G>A (n.636+16958G>A) | ClinVar |
| 15 | g.48520754T>A | CA392347730 | FBN1 | c.1052A>T (p.Gln351Leu) c.636+16957A>T (n.636+16957A>T) | |
| 15 | g.48520754T>C | CA011904 | FBN1 | c.1052A>G (p.Gln351Arg) c.636+16957A>G (n.636+16957A>G) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48520754T>G | CA392347733 | FBN1 | c.1052A>C (p.Gln351Pro) c.636+16957A>C (n.636+16957A>C) | |
| 15 | g.48520754T= | CA2175537636 | FBN1 | c.1052A= (p.Gln351=) c.636+16957A= (n.636+16957A=) | |
| 15 | g.48520756_48520757del | CA2580613815 | FBN1 | c.1051_1052del (p.Gln351ValfsTer10) c.636+16956_636+16957del (n.636+16956_636+16957del) | ClinVar dbSNP |
| 15 | g.48520755G>A | CA011893 | FBN1 | c.1051C>T (p.Gln351Ter) c.636+16956C>T (n.636+16956C>T) | ClinVar dbSNP |
| 15 | g.48520755G>C | CA392347736 | FBN1 | c.1051C>G (p.Gln351Glu) c.636+16956C>G (n.636+16956C>G) | gnomAD v4 |
| 15 | g.48520755G= | CA2175537643 | FBN1 | c.1051C= (p.Gln351=) c.636+16956C= (n.636+16956C=) | |
| 15 | g.48520755G>T | CA392347739 | FBN1 | c.1051C>A (p.Gln351Lys) c.636+16956C>A (n.636+16956C>A) | |
| 15 | g.48520756del | CA2695220338 | FBN1 | c.1050del (p.Gln351SerfsTer3) c.636+16955del (n.636+16955del) | |
| 15 | g.48520756T>A | CA490028514 | FBN1 | c.1050A>T (p.Pro350=) c.636+16955A>T (n.636+16955A>T) | |
| 15 | g.48520756T>C | CA269562533 | FBN1 | c.1050A>G (p.Pro350=) c.636+16955A>G (n.636+16955A>G) | dbSNP |
| 15 | g.48520756T>G | CA490028515 | FBN1 | c.1050A>C (p.Pro350=) c.636+16955A>C (n.636+16955A>C) | |
| 15 | g.48520756T= | CA2175537646 | FBN1 | c.1050A= (p.Pro350=) c.636+16955A= (n.636+16955A=) | |
| 15 | g.48520757G>A | CA392347743 | FBN1 | c.1049C>T (p.Pro350Leu) c.636+16954C>T (n.636+16954C>T) | |
| 15 | g.48520757G>C | CA392347745 | FBN1 | c.1049C>G (p.Pro350Arg) c.636+16954C>G (n.636+16954C>G) | |
| 15 | g.48520757G>T | CA392347741 | FBN1 | c.1049C>A (p.Pro350Gln) c.636+16954C>A (n.636+16954C>A) | |
| 15 | g.48520758G>A | CA392347748 | FBN1 | c.1048C>T (p.Pro350Ser) c.636+16953C>T (n.636+16953C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48520758G>C | CA392347750 | FBN1 | c.1048C>G (p.Pro350Ala) c.636+16953C>G (n.636+16953C>G) | |
| 15 | g.48520758G= | CA2175537651 | FBN1 | c.1048C= (p.Pro350=) c.636+16953C= (n.636+16953C=) | |
| 15 | g.48520758G>T | CA392347752 | FBN1 | c.1048C>A (p.Pro350Thr) c.636+16953C>A (n.636+16953C>A) | |
| 15 | g.48520759C>A | CA490028516 | FBN1 | c.1047G>T (p.Leu349=) c.636+16952G>T (n.636+16952G>T) | |
| 15 | g.48520759C= | CA2175537654 | FBN1 | c.1047G= (p.Leu349=) c.636+16952G= (n.636+16952G=) | |
| 15 | g.48520759C>G | CA490028517 | FBN1 | c.1047G>C (p.Leu349=) c.636+16952G>C (n.636+16952G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520759C>T | CA490028518 | FBN1 | c.1047G>A (p.Leu349=) c.636+16952G>A (n.636+16952G>A) | |
| 15 | g.48520760A>C | CA392347754 | FBN1 | c.1046T>G (p.Leu349Arg) c.636+16951T>G (n.636+16951T>G) | |
| 15 | g.48520760A>G | CA392347755 | FBN1 | c.1046T>C (p.Leu349Pro) c.636+16951T>C (n.636+16951T>C) | |
| 15 | g.48520760A>T | CA392347757 | FBN1 | c.1046T>A (p.Leu349Gln) c.636+16951T>A (n.636+16951T>A) | |
| 15 | g.48520761G>A | CA490028519 | FBN1 | c.1045C>T (p.Leu349=) c.636+16950C>T (n.636+16950C>T) | |
| 15 | g.48520761G>C | CA392347761 | FBN1 | c.1045C>G (p.Leu349Val) c.636+16950C>G (n.636+16950C>G) | |
| 15 | g.48520761G>T | CA392347762 | FBN1 | c.1045C>A (p.Leu349Met) c.636+16950C>A (n.636+16950C>A) | |
| 15 | g.48520762C>A | CA392347764 | FBN1 | c.1044G>T (p.Gln348His) c.636+16949G>T (n.636+16949G>T) | dbSNP |
| 15 | g.48520762C= | CA2175537659 | FBN1 | c.1044G= (p.Gln348=) c.636+16949G= (n.636+16949G=) | |
| 15 | g.48520762C>G | CA392347765 | FBN1 | c.1044G>C (p.Gln348His) c.636+16949G>C (n.636+16949G>C) | |
| 15 | g.48520762C>T | CA490028520 | FBN1 | c.1044G>A (p.Gln348=) c.636+16949G>A (n.636+16949G>A) | |
| 15 | g.48520763T>A | CA392347767 | FBN1 | c.1043A>T (p.Gln348Leu) c.636+16948A>T (n.636+16948A>T) | |
| 15 | g.48520763T>C | CA043420 | FBN1 | c.1043A>G (p.Gln348Arg) c.636+16948A>G (n.636+16948A>G) | dbSNP ExAC gnomAD v2 |
| 15 | g.48520763T>G | CA392347770 | FBN1 | c.1043A>C (p.Gln348Pro) c.636+16948A>C (n.636+16948A>C) | |
| 15 | g.48520763T= | CA2175537662 | FBN1 | c.1043A= (p.Gln348=) c.636+16948A= (n.636+16948A=) | |
| 15 | g.48520764G>A | CA10588589 | FBN1 | c.1042C>T (p.Gln348Ter) c.636+16947C>T (n.636+16947C>T) | ClinVar dbSNP |
| 15 | g.48520764G>C | CA392347773 | FBN1 | c.1042C>G (p.Gln348Glu) c.636+16947C>G (n.636+16947C>G) | gnomAD v4 |
| 15 | g.48520764G= | CA2175537668 | FBN1 | c.1042C= (p.Gln348=) c.636+16947C= (n.636+16947C=) | |
| 15 | g.48520764G>T | CA392347774 | FBN1 | c.1042C>A (p.Gln348Lys) c.636+16947C>A (n.636+16947C>A) | |
| 15 | g.48520765G>A | CA490028521 | FBN1 | c.1041C>T (p.Asn347=) c.636+16946C>T (n.636+16946C>T) | |
| 15 | g.48520765G>C | CA392347775 | FBN1 | c.1041C>G (p.Asn347Lys) c.636+16946C>G (n.636+16946C>G) | |
| 15 | g.48520765G>T | CA392347777 | FBN1 | c.1041C>A (p.Asn347Lys) c.636+16946C>A (n.636+16946C>A) | COSMIC |
| 15 | g.48520766T>A | CA392347780 | FBN1 | c.1040A>T (p.Asn347Ile) c.636+16945A>T (n.636+16945A>T) | |
| 15 | g.48520766T>C | CA392347783 | FBN1 | c.1040A>G (p.Asn347Ser) c.636+16945A>G (n.636+16945A>G) | |
| 15 | g.48520766T>G | CA392347785 | FBN1 | c.1040A>C (p.Asn347Thr) c.636+16945A>C (n.636+16945A>C) | |
| 15 | g.48520767T>A | CA392347788 | FBN1 | c.1039A>T (p.Asn347Tyr) c.636+16944A>T (n.636+16944A>T) | |
| 15 | g.48520767T>C | CA392347789 | FBN1 | c.1039A>G (p.Asn347Asp) c.636+16944A>G (n.636+16944A>G) | |
| 15 | g.48520767T>G | CA392347791 | FBN1 | c.1039A>C (p.Asn347His) c.636+16944A>C (n.636+16944A>C) | |
| 15 | g.48520768A>C | CA490028522 | FBN1 | c.1038T>G (p.Ser346=) c.636+16943T>G (n.636+16943T>G) | |
| 15 | g.48520768A>G | CA490028523 | FBN1 | c.1038T>C (p.Ser346=) c.636+16943T>C (n.636+16943T>C) | |
| 15 | g.48520768A>T | CA490028524 | FBN1 | c.1038T>A (p.Ser346=) c.636+16943T>A (n.636+16943T>A) | ClinVar dbSNP |
| 15 | g.48520769G>A | CA392347793 | FBN1 | c.1037C>T (p.Ser346Phe) c.636+16942C>T (n.636+16942C>T) | |
| 15 | g.48520769G>C | CA392347794 | FBN1 | c.1037C>G (p.Ser346Cys) c.636+16942C>G (n.636+16942C>G) | |
| 15 | g.48520769G>T | CA392347796 | FBN1 | c.1037C>A (p.Ser346Tyr) c.636+16942C>A (n.636+16942C>A) | |
| 15 | g.48520770A= | CA2175537677 | FBN1 | c.1036T= (p.Ser346=) c.636+16941T= (n.636+16941T=) | |
| 15 | g.48520770A>C | CA392347799 | FBN1 | c.1036T>G (p.Ser346Ala) c.636+16941T>G (n.636+16941T>G) | |
| 15 | g.48520770A>G | CA011886 | FBN1 | c.1036T>C (p.Ser346Pro) c.636+16941T>C (n.636+16941T>C) | ClinVar dbSNP |
| 15 | g.48520770A>T | CA392347802 | FBN1 | c.1036T>A (p.Ser346Thr) c.636+16941T>A (n.636+16941T>A) | |
| 15 | g.48520771G>A | CA490028525 | FBN1 | c.1035C>T (p.Cys345=) c.636+16940C>T (n.636+16940C>T) | |
| 15 | g.48520771G>C | CA392347804 | FBN1 | c.1035C>G (p.Cys345Trp) c.636+16940C>G (n.636+16940C>G) | |
| 15 | g.48520771G= | CA2175537686 | FBN1 | c.1035C= (p.Cys345=) c.636+16940C= (n.636+16940C=) | |
| 15 | g.48520771G>T | CA392347806 | FBN1 | c.1035C>A (p.Cys345Ter) c.636+16940C>A (n.636+16940C>A) | ClinVar dbSNP |
| 15 | g.48520772C>A | CA392347808 | FBN1 | c.1034G>T (p.Cys345Phe) c.636+16939G>T (n.636+16939G>T) | |
| 15 | g.48520772C>G | CA392347810 | FBN1 | c.1034G>C (p.Cys345Ser) c.636+16939G>C (n.636+16939G>C) | |
| 15 | g.48520772C>T | CA392347812 | FBN1 | c.1034G>A (p.Cys345Tyr) c.636+16939G>A (n.636+16939G>A) | |
| 15 | g.48520773A>C | CA392347814 | FBN1 | c.1033T>G (p.Cys345Gly) c.636+16938T>G (n.636+16938T>G) | |
| 15 | g.48520773A>G | CA392347815 | FBN1 | c.1033T>C (p.Cys345Arg) c.636+16938T>C (n.636+16938T>C) | ClinVar |
| 15 | g.48520773A>T | CA392347817 | FBN1 | c.1033T>A (p.Cys345Ser) c.636+16938T>A (n.636+16938T>A) | |
| 15 | g.48520773_48520809delinsAGCGCCCGTTTGTCAGAGCTGTGTAACAGTATCCTGG | CA2175537689 | FBN1 | c.997_1033delinsCCAGGATACTGTTACACAGCTCTGACAAACGGGCGCT (p.Pro333=) c.636+16902_636+16938delinsCCAGGATACTGTTACACAGCTCTGACAAACGGGCGCT (n.636+16902_636+16938delinsCCAGGATACTGTTACACAGCTCTGACAAACGGGCGCT) | |
| 15 | g.48520774G>A | CA490028526 | FBN1 | c.1032C>T (p.Arg344=) c.636+16937C>T (n.636+16937C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48520774G>C | CA490028528 | FBN1 | c.1032C>G (p.Arg344=) c.636+16937C>G (n.636+16937C>G) | |
| 15 | g.48520774G>T | CA490028527 | FBN1 | c.1032C>A (p.Arg344=) c.636+16937C>A (n.636+16937C>A) | |
| 15 | g.48520777_48520812del | CA916082424 | FBN1 | c.997_1032del (p.Pro333_Arg344del) c.636+16902_636+16937del (n.636+16902_636+16937del) | ClinVar dbSNP |
| 15 | g.48520775C>A | CA043406 | FBN1 | c.1031G>T (p.Arg344Leu) c.636+16936G>T (n.636+16936G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520775C= | CA2175537699 | FBN1 | c.1031G= (p.Arg344=) c.636+16936G= (n.636+16936G=) | |
| 15 | g.48520775C>G | CA392347819 | FBN1 | c.1031G>C (p.Arg344Pro) c.636+16936G>C (n.636+16936G>C) | ClinVar dbSNP |
| 15 | g.48520775C>T | CA392347821 | FBN1 | c.1031G>A (p.Arg344His) c.636+16936G>A (n.636+16936G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520776G>A | CA043398 | FBN1 | c.1030C>T (p.Arg344Cys) c.636+16935C>T (n.636+16935C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48520776G>C | CA392347825 | FBN1 | c.1030C>G (p.Arg344Gly) c.636+16935C>G (n.636+16935C>G) | |
| 15 | g.48520776G= | CA2175537705 | FBN1 | c.1030C= (p.Arg344=) c.636+16935C= (n.636+16935C=) | |
| 15 | g.48520776G>T | CA392347827 | FBN1 | c.1030C>A (p.Arg344Ser) c.636+16935C>A (n.636+16935C>A) | |
| 15 | g.48520777C>A | CA490028530 | FBN1 | c.1029G>T (p.Gly343=) c.636+16934G>T (n.636+16934G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520777C= | CA2175537721 | FBN1 | c.1029G= (p.Gly343=) c.636+16934G= (n.636+16934G=) | |
| 15 | g.48520777C>G | CA490028529 | FBN1 | c.1029G>C (p.Gly343=) c.636+16934G>C (n.636+16934G>C) | |
| 15 | g.48520777C>T | CA011876 | FBN1 | c.1029G>A (p.Gly343=) c.636+16934G>A (n.636+16934G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520777_48520785delinsCCCGTTTGT | CA2175537718 | FBN1 | c.1021_1029delinsACAAACGGG (p.Thr341=) c.636+16926_636+16934delinsACAAACGGG (n.636+16926_636+16934delinsACAAACGGG) | |
| 15 | g.48520778C>A | CA392347830 | FBN1 | c.1028G>T (p.Gly343Val) c.636+16933G>T (n.636+16933G>T) | |
| 15 | g.48520778C= | CA2175537728 | FBN1 | c.1028G= (p.Gly343=) c.636+16933G= (n.636+16933G=) | |
| 15 | g.48520778C>G | CA392347832 | FBN1 | c.1028G>C (p.Gly343Ala) c.636+16933G>C (n.636+16933G>C) | |
| 15 | g.48520778C>T | CA043365 | FBN1 | c.1028G>A (p.Gly343Glu) c.636+16933G>A (n.636+16933G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520779_48520786del | CA891844030 | FBN1 | c.1021_1028del (p.Thr341AlafsTer4) c.636+16926_636+16933del (n.636+16926_636+16933del) | ClinVar dbSNP |
| 15 | g.48520779C>A | CA392347834 | FBN1 | c.1027G>T (p.Gly343Trp) c.636+16932G>T (n.636+16932G>T) | |
| 15 | g.48520779C= | CA2175537740 | FBN1 | c.1027G= (p.Gly343=) c.636+16932G= (n.636+16932G=) | |
| 15 | g.48520779C>G | CA392347835 | FBN1 | c.1027G>C (p.Gly343Arg) c.636+16932G>C (n.636+16932G>C) | |
| 15 | g.48520779C>T | CA011866 | FBN1 | c.1027G>A (p.Gly343Arg) c.636+16932G>A (n.636+16932G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520780del | CA2695220342 | FBN1 | c.1026del (p.Asn342LysfsTer12) c.636+16931del (n.636+16931del) | |
| 15 | g.48520780G>A | CA043334 | FBN1 | c.1026C>T (p.Asn342=) c.636+16931C>T (n.636+16931C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48520780G>C | CA392347839 | FBN1 | c.1026C>G (p.Asn342Lys) c.636+16931C>G (n.636+16931C>G) | dbSNP |
| 15 | g.48520780G= | CA2175537744 | FBN1 | c.1026C= (p.Asn342=) c.636+16931C= (n.636+16931C=) | |
| 15 | g.48520780G>T | CA392347842 | FBN1 | c.1026C>A (p.Asn342Lys) c.636+16931C>A (n.636+16931C>A) | |
| 15 | g.48520781T>A | CA392347844 | FBN1 | c.1025A>T (p.Asn342Ile) c.636+16930A>T (n.636+16930A>T) | |
| 15 | g.48520781T>C | CA392347846 | FBN1 | c.1025A>G (p.Asn342Ser) c.636+16930A>G (n.636+16930A>G) | |
| 15 | g.48520781T>G | CA392347848 | FBN1 | c.1025A>C (p.Asn342Thr) c.636+16930A>C (n.636+16930A>C) | |
| 15 | g.48520782T>A | CA392347852 | FBN1 | c.1024A>T (p.Asn342Tyr) c.636+16929A>T (n.636+16929A>T) | |
| 15 | g.48520782T>C | CA392347853 | FBN1 | c.1024A>G (p.Asn342Asp) c.636+16929A>G (n.636+16929A>G) | dbSNP |
| 15 | g.48520782T>G | CA392347850 | FBN1 | c.1024A>C (p.Asn342His) c.636+16929A>C (n.636+16929A>C) | |
| 15 | g.48520782T= | CA2175537749 | FBN1 | c.1024A= (p.Asn342=) c.636+16929A= (n.636+16929A=) | |
| 15 | g.48520783T>A | CA490028531 | FBN1 | c.1023A>T (p.Thr341=) c.636+16928A>T (n.636+16928A>T) | |
| 15 | g.48520783T>C | CA490028532 | FBN1 | c.1023A>G (p.Thr341=) c.636+16928A>G (n.636+16928A>G) | |
| 15 | g.48520783T>G | CA490028533 | FBN1 | c.1023A>C (p.Thr341=) c.636+16928A>C (n.636+16928A>C) | |
| 15 | g.48520784G>A | CA392347854 | FBN1 | c.1022C>T (p.Thr341Ile) c.636+16927C>T (n.636+16927C>T) | |
| 15 | g.48520784G>C | CA392347855 | FBN1 | c.1022C>G (p.Thr341Arg) c.636+16927C>G (n.636+16927C>G) | |
| 15 | g.48520784G>T | CA392347856 | FBN1 | c.1022C>A (p.Thr341Lys) c.636+16927C>A (n.636+16927C>A) | |
| 15 | g.48520785T>A | CA392347857 | FBN1 | c.1021A>T (p.Thr341Ser) c.636+16926A>T (n.636+16926A>T) | |
| 15 | g.48520785T>C | CA392347859 | FBN1 | c.1021A>G (p.Thr341Ala) c.636+16926A>G (n.636+16926A>G) | |
| 15 | g.48520785T>G | CA392347860 | FBN1 | c.1021A>C (p.Thr341Pro) c.636+16926A>C (n.636+16926A>C) | gnomAD v4 |
| 15 | g.48520786C>A | CA490028534 | FBN1 | c.1020G>T (p.Leu340=) c.636+16925G>T (n.636+16925G>T) | |
| 15 | g.48520786C>G | CA490028535 | FBN1 | c.1020G>C (p.Leu340=) c.636+16925G>C (n.636+16925G>C) | |
| 15 | g.48520786C>T | CA490028536 | FBN1 | c.1020G>A (p.Leu340=) c.636+16925G>A (n.636+16925G>A) | |
| 15 | g.48520787A>C | CA392347862 | FBN1 | c.1019T>G (p.Leu340Arg) c.636+16924T>G (n.636+16924T>G) | |
| 15 | g.48520787A>G | CA392347864 | FBN1 | c.1019T>C (p.Leu340Pro) c.636+16924T>C (n.636+16924T>C) | |
| 15 | g.48520787A>T | CA392347866 | FBN1 | c.1019T>A (p.Leu340Gln) c.636+16924T>A (n.636+16924T>A) | |
| 15 | g.48520788G>A | CA490028537 | FBN1 | c.1018C>T (p.Leu340=) c.636+16923C>T (n.636+16923C>T) | gnomAD v4 |
| 15 | g.48520788G>C | CA392347869 | FBN1 | c.1018C>G (p.Leu340Val) c.636+16923C>G (n.636+16923C>G) | |
| 15 | g.48520788G>T | CA392347870 | FBN1 | c.1018C>A (p.Leu340Met) c.636+16923C>A (n.636+16923C>A) | |
| 15 | g.48520789A>C | CA490028538 | FBN1 | c.1017T>G (p.Ala339=) c.636+16922T>G (n.636+16922T>G) | |
| 15 | g.48520789A>G | CA490028539 | FBN1 | c.1017T>C (p.Ala339=) c.636+16922T>C (n.636+16922T>C) | gnomAD v4 |
| 15 | g.48520789A>T | CA490028540 | FBN1 | c.1017T>A (p.Ala339=) c.636+16922T>A (n.636+16922T>A) | |
| 15 | g.48520790G>A | CA392347875 | FBN1 | c.1016C>T (p.Ala339Val) c.636+16921C>T (n.636+16921C>T) | |
| 15 | g.48520790G>C | CA392347877 | FBN1 | c.1016C>G (p.Ala339Gly) c.636+16921C>G (n.636+16921C>G) | |
| 15 | g.48520790G>T | CA392347873 | FBN1 | c.1016C>A (p.Ala339Asp) c.636+16921C>A (n.636+16921C>A) | |
| 15 | g.48520791C>A | CA392347879 | FBN1 | c.1015G>T (p.Ala339Ser) c.636+16920G>T (n.636+16920G>T) | ClinVar dbSNP |
| 15 | g.48520791C>G | CA392347880 | FBN1 | c.1015G>C (p.Ala339Pro) c.636+16920G>C (n.636+16920G>C) | gnomAD v4 |
| 15 | g.48520791C>T | CA392347881 | FBN1 | c.1015G>A (p.Ala339Thr) c.636+16920G>A (n.636+16920G>A) | ClinVar dbSNP |
| 15 | g.48520792T>A | CA490028541 | FBN1 | c.1014A>T (p.Thr338=) c.636+16919A>T (n.636+16919A>T) | |
| 15 | g.48520792T>C | CA490028542 | FBN1 | c.1014A>G (p.Thr338=) c.636+16919A>G (n.636+16919A>G) | gnomAD v4 |
| 15 | g.48520792T>G | CA490028543 | FBN1 | c.1014A>C (p.Thr338=) c.636+16919A>C (n.636+16919A>C) | |
| 15 | g.48520793G>A | CA392347882 | FBN1 | c.1013C>T (p.Thr338Ile) c.636+16918C>T (n.636+16918C>T) | gnomAD v4 |
| 15 | g.48520793G>C | CA392347883 | FBN1 | c.1013C>G (p.Thr338Arg) c.636+16918C>G (n.636+16918C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520793G= | CA2175537753 | FBN1 | c.1013C= (p.Thr338=) c.636+16918C= (n.636+16918C=) | |
| 15 | g.48520793G>T | CA392347884 | FBN1 | c.1013C>A (p.Thr338Lys) c.636+16918C>A (n.636+16918C>A) | |
| 15 | g.48520794T>A | CA392347885 | FBN1 | c.1012A>T (p.Thr338Ser) c.636+16917A>T (n.636+16917A>T) | |
| 15 | g.48520794T>C | CA392347887 | FBN1 | c.1012A>G (p.Thr338Ala) c.636+16917A>G (n.636+16917A>G) | |
| 15 | g.48520794T>G | CA392347886 | FBN1 | c.1012A>C (p.Thr338Pro) c.636+16917A>C (n.636+16917A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520794T= | CA2175537757 | FBN1 | c.1012A= (p.Thr338=) c.636+16917A= (n.636+16917A=) | |
| 15 | g.48520795G>A | CA490028544 | FBN1 | c.1011C>T (p.Tyr337=) c.636+16916C>T (n.636+16916C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520795G>C | CA392347888 | FBN1 | c.1011C>G (p.Tyr337Ter) c.636+16916C>G (n.636+16916C>G) | |
| 15 | g.48520795G= | CA2175537764 | FBN1 | c.1011C= (p.Tyr337=) c.636+16916C= (n.636+16916C=) | |
| 15 | g.48520795G>T | CA16607110 | FBN1 | c.1011C>A (p.Tyr337Ter) c.636+16916C>A (n.636+16916C>A) | ClinVar dbSNP |
| 15 | g.48520796T>A | CA392347889 | FBN1 | c.1010A>T (p.Tyr337Phe) c.636+16915A>T (n.636+16915A>T) | |
| 15 | g.48520796T>C | CA392347890 | FBN1 | c.1010A>G (p.Tyr337Cys) c.636+16915A>G (n.636+16915A>G) | |
| 15 | g.48520796T>G | CA392347891 | FBN1 | c.1010A>C (p.Tyr337Ser) c.636+16915A>C (n.636+16915A>C) | |
| 15 | g.48520796dup | CA891844031 | FBN1 | c.1010dup (p.Tyr337Ter) c.636+16915dup (n.636+16915dup) | ClinVar dbSNP |
| 15 | g.48520797A>C | CA392347893 | FBN1 | c.1009T>G (p.Tyr337Asp) c.636+16914T>G (n.636+16914T>G) | |
| 15 | g.48520797A>G | CA392347894 | FBN1 | c.1009T>C (p.Tyr337His) c.636+16914T>C (n.636+16914T>C) | |
| 15 | g.48520797A>T | CA392347892 | FBN1 | c.1009T>A (p.Tyr337Asn) c.636+16914T>A (n.636+16914T>A) | |
| 15 | g.48520798A>C | CA392347896 | FBN1 | c.1008T>G (p.Cys336Trp) c.636+16913T>G (n.636+16913T>G) | |
| 15 | g.48520798A>G | CA490028545 | FBN1 | c.1008T>C (p.Cys336=) c.636+16913T>C (n.636+16913T>C) | |
| 15 | g.48520798A>T | CA392347895 | FBN1 | c.1008T>A (p.Cys336Ter) c.636+16913T>A (n.636+16913T>A) | |
| 15 | g.48520799C>A | CA392347899 | FBN1 | c.1007G>T (p.Cys336Phe) c.636+16912G>T (n.636+16912G>T) | |
| 15 | g.48520799C>G | CA392347897 | FBN1 | c.1007G>C (p.Cys336Ser) c.636+16912G>C (n.636+16912G>C) | |
| 15 | g.48520799C>T | CA392347898 | FBN1 | c.1007G>A (p.Cys336Tyr) c.636+16912G>A (n.636+16912G>A) | ClinVar dbSNP |
| 15 | g.48520800A= | CA2175537780 | FBN1 | c.1006T= (p.Cys336=) c.636+16911T= (n.636+16911T=) | |
| 15 | g.48520800A>C | CA392347900 | FBN1 | c.1006T>G (p.Cys336Gly) c.636+16911T>G (n.636+16911T>G) | ClinVar dbSNP |
| 15 | g.48520800A>G | CA392347901 | FBN1 | c.1006T>C (p.Cys336Arg) c.636+16911T>C (n.636+16911T>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48520800A>T | CA392347902 | FBN1 | c.1006T>A (p.Cys336Ser) c.636+16911T>A (n.636+16911T>A) | |
| 15 | g.48520801G>A | CA490028546 | FBN1 | c.1005C>T (p.Tyr335=) c.636+16910C>T (n.636+16910C>T) | |
| 15 | g.48520801G>C | CA392347903 | FBN1 | c.1005C>G (p.Tyr335Ter) c.636+16910C>G (n.636+16910C>G) | |
| 15 | g.48520801G>T | CA392347904 | FBN1 | c.1005C>A (p.Tyr335Ter) c.636+16910C>A (n.636+16910C>A) | |
| 15 | g.48520802T>A | CA392347905 | FBN1 | c.1004A>T (p.Tyr335Phe) c.636+16909A>T (n.636+16909A>T) | |
| 15 | g.48520802T>C | CA043325 | FBN1 | c.1004A>G (p.Tyr335Cys) c.636+16909A>G (n.636+16909A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520802T>G | CA392347906 | FBN1 | c.1004A>C (p.Tyr335Ser) c.636+16909A>C (n.636+16909A>C) | |
| 15 | g.48520802T= | CA2175537785 | FBN1 | c.1004A= (p.Tyr335=) c.636+16909A= (n.636+16909A=) | |
| 15 | g.48520803_48520804del | CA2573150790 | FBN1 | c.1003_1004del (p.Tyr335LeufsTer12) c.636+16908_636+16909del (n.636+16908_636+16909del) | ClinVar dbSNP |