OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |
| 15 | g.48520803A>C | CA392347907 | FBN1 | c.1003T>G (p.Tyr335Asp) c.636+16908T>G (n.636+16908T>G) | |
| 15 | g.48520803A>G | CA392347908 | FBN1 | c.1003T>C (p.Tyr335His) c.636+16908T>C (n.636+16908T>C) | |
| 15 | g.48520803A>T | CA392347909 | FBN1 | c.1003T>A (p.Tyr335Asn) c.636+16908T>A (n.636+16908T>A) | |
| 15 | g.48520804T>A | CA269562575 | FBN1 | c.1002A>T (p.Gly334=) c.636+16907A>T (n.636+16907A>T) | dbSNP |
| 15 | g.48520804T>C | CA490028547 | FBN1 | c.1002A>G (p.Gly334=) c.636+16907A>G (n.636+16907A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520804T>G | CA490028548 | FBN1 | c.1002A>C (p.Gly334=) c.636+16907A>C (n.636+16907A>C) | |
| 15 | g.48520804T= | CA2175537790 | FBN1 | c.1002A= (p.Gly334=) c.636+16907A= (n.636+16907A=) | |
| 15 | g.48520805C>A | CA392347910 | FBN1 | c.1001G>T (p.Gly334Val) c.636+16906G>T (n.636+16906G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520805C= | CA2175537795 | FBN1 | c.1001G= (p.Gly334=) c.636+16906G= (n.636+16906G=) | |
| 15 | g.48520805C>G | CA392347912 | FBN1 | c.1001G>C (p.Gly334Ala) c.636+16906G>C (n.636+16906G>C) | |
| 15 | g.48520805C>T | CA392347911 | FBN1 | c.1001G>A (p.Gly334Glu) c.636+16906G>A (n.636+16906G>A) | |
| 15 | g.48520806C>A | CA392347913 | FBN1 | c.1000G>T (p.Gly334Ter) c.636+16905G>T (n.636+16905G>T) | |
| 15 | g.48520806C>G | CA392347914 | FBN1 | c.1000G>C (p.Gly334Arg) c.636+16905G>C (n.636+16905G>C) | |
| 15 | g.48520806C>T | CA392347915 | FBN1 | c.1000G>A (p.Gly334Arg) c.636+16905G>A (n.636+16905G>A) | |
| 15 | g.48520807T>A | CA490028549 | FBN1 | c.999A>T (p.Pro333=) c.636+16904A>T (n.636+16904A>T) | |
| 15 | g.48520807T>C | CA490028550 | FBN1 | c.999A>G (p.Pro333=) c.636+16904A>G (n.636+16904A>G) | |
| 15 | g.48520807T>G | CA269562576 | FBN1 | c.999A>C (p.Pro333=) c.636+16904A>C (n.636+16904A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520807T= | CA2175537799 | FBN1 | c.999A= (p.Pro333=) c.636+16904A= (n.636+16904A=) | |
| 15 | g.48520808G>A | CA392347916 | FBN1 | c.998C>T (p.Pro333Leu) c.636+16903C>T (n.636+16903C>T) | gnomAD v4 |
| 15 | g.48520808G>C | CA392347917 | FBN1 | c.998C>G (p.Pro333Arg) c.636+16903C>G (n.636+16903C>G) | |
| 15 | g.48520808G>T | CA392347918 | FBN1 | c.998C>A (p.Pro333Gln) c.636+16903C>A (n.636+16903C>A) | |
| 15 | g.48520809G>A | CA392347919 | FBN1 | c.997C>T (p.Pro333Ser) c.636+16902C>T (n.636+16902C>T) | |
| 15 | g.48520809G>C | CA392347920 | FBN1 | c.997C>G (p.Pro333Ala) c.636+16902C>G (n.636+16902C>G) | |
| 15 | g.48520809G>T | CA392347921 | FBN1 | c.997C>A (p.Pro333Thr) c.636+16902C>A (n.636+16902C>A) | gnomAD v4 |
| 15 | g.48520810G>A | CA490028551 | FBN1 | c.996C>T (p.Arg332=) c.636+16901C>T (n.636+16901C>T) | gnomAD v4 |
| 15 | g.48520810G>C | CA490028552 | FBN1 | c.996C>G (p.Arg332=) c.636+16901C>G (n.636+16901C>G) | |
| 15 | g.48520810G>T | CA490028553 | FBN1 | c.996C>A (p.Arg332=) c.636+16901C>A (n.636+16901C>A) | |
| 15 | g.48520811C>A | CA392347922 | FBN1 | c.995G>T (p.Arg332Leu) c.636+16900G>T (n.636+16900G>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48520811C= | CA2175537805 | FBN1 | c.995G= (p.Arg332=) c.636+16900G= (n.636+16900G=) | |
| 15 | g.48520811C>G | CA392347923 | FBN1 | c.995G>C (p.Arg332Pro) c.636+16900G>C (n.636+16900G>C) | |
| 15 | g.48520811C>T | CA060574 | FBN1 | c.995G>A (p.Arg332His) c.636+16900G>A (n.636+16900G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520812G>A | CA392347924 | FBN1 | c.994C>T (p.Arg332Cys) c.636+16899C>T (n.636+16899C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48520812G>C | CA392347925 | FBN1 | c.994C>G (p.Arg332Gly) c.636+16899C>G (n.636+16899C>G) | gnomAD v4 |
| 15 | g.48520812G= | CA2175537808 | FBN1 | c.994C= (p.Arg332=) c.636+16899C= (n.636+16899C=) | |
| 15 | g.48520812G>T | CA392347926 | FBN1 | c.994C>A (p.Arg332Ser) c.636+16899C>A (n.636+16899C>A) | |
| 15 | g.48520813A>C | CA490028554 | FBN1 | c.993T>G (p.Val331=) c.636+16898T>G (n.636+16898T>G) | |
| 15 | g.48520813A>G | CA490028555 | FBN1 | c.993T>C (p.Val331=) c.636+16898T>C (n.636+16898T>C) | |
| 15 | g.48520813A>T | CA490028556 | FBN1 | c.993T>A (p.Val331=) c.636+16898T>A (n.636+16898T>A) | |
| 15 | g.48520814A= | CA2175537813 | FBN1 | c.992T= (p.Val331=) c.636+16897T= (n.636+16897T=) | |
| 15 | g.48520814A>C | CA392347927 | FBN1 | c.992T>G (p.Val331Gly) c.636+16897T>G (n.636+16897T>G) | |
| 15 | g.48520814A>G | CA392347928 | FBN1 | c.992T>C (p.Val331Ala) c.636+16897T>C (n.636+16897T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520814A>T | CA392347929 | FBN1 | c.992T>A (p.Val331Asp) c.636+16897T>A (n.636+16897T>A) | ClinVar |
| 15 | g.48520815del | CA2697549059 | FBN1 | c.991del (p.Val331PhefsTer10) c.636+16896del (n.636+16896del) | ClinVar |
| 15 | g.48520815C>A | CA392347932 | FBN1 | c.991G>T (p.Val331Phe) c.636+16896G>T (n.636+16896G>T) | |
| 15 | g.48520815C>G | CA392347930 | FBN1 | c.991G>C (p.Val331Leu) c.636+16896G>C (n.636+16896G>C) | |
| 15 | g.48520815C>T | CA392347931 | FBN1 | c.991G>A (p.Val331Ile) c.636+16896G>A (n.636+16896G>A) | ClinVar gnomAD v4 |
| 15 | g.48520816A= | CA2175537816 | FBN1 | c.990T= (p.Asp330=) c.636+16895T= (n.636+16895T=) | |
| 15 | g.48520816A>C | CA392347933 | FBN1 | c.990T>G (p.Asp330Glu) c.636+16895T>G (n.636+16895T>G) | |
| 15 | g.48520816A>G | CA490028557 | FBN1 | c.990T>C (p.Asp330=) c.636+16895T>C (n.636+16895T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520816A>T | CA392347935 | FBN1 | c.990T>A (p.Asp330Glu) c.636+16895T>A (n.636+16895T>A) | |
| 15 | g.48520817T>A | CA392347937 | FBN1 | c.989A>T (p.Asp330Val) c.636+16894A>T (n.636+16894A>T) | ClinVar |
| 15 | g.48520817T>C | CA392347938 | FBN1 | c.989A>G (p.Asp330Gly) c.636+16894A>G (n.636+16894A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520817T>G | CA392347940 | FBN1 | c.989A>C (p.Asp330Ala) c.636+16894A>C (n.636+16894A>C) | |
| 15 | g.48520817T= | CA2175537818 | FBN1 | c.989A= (p.Asp330=) c.636+16894A= (n.636+16894A=) | |
| 15 | g.48520818C>A | CA392347943 | FBN1 | c.989-1G>T (n.989-1G>T) c.636+16893G>T (n.636+16893G>T) | |
| 15 | g.48520818C= | CA2175537821 | FBN1 | c.989-1G= (n.989-1G=) c.636+16893G= (n.636+16893G=) | |
| 15 | g.48520818C>G | CA392347946 | FBN1 | c.989-1G>C (n.989-1G>C) c.636+16893G>C (n.636+16893G>C) | ClinVar dbSNP |
| 15 | g.48520818C>T | CA392347944 | FBN1 | c.989-1G>A (n.989-1G>A) c.636+16893G>A (n.636+16893G>A) | |
| 15 | g.48520819T>A | CA392347949 | FBN1 | c.989-2A>T (n.989-2A>T) c.636+16892A>T (n.636+16892A>T) | |
| 15 | g.48520819T>C | CA392347950 | FBN1 | c.989-2A>G (n.989-2A>G) c.636+16892A>G (n.636+16892A>G) | |
| 15 | g.48520819T>G | CA392347952 | FBN1 | c.989-2A>C (n.989-2A>C) c.636+16892A>C (n.636+16892A>C) | |
| 15 | g.48520819T= | CA2175537824 | FBN1 | c.989-2A= (n.989-2A=) c.636+16892A= (n.636+16892A=) | |
| 15 | g.48520821_48520822dup | CA2175537827 | FBN1 | c.989-4_989-3dup (n.989-4_989-3dup) c.636+16890_636+16891dup (n.636+16890_636+16891dup) | dbSNP |