SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48520734_48520806del | CA2695220334 | FBN1 | c.1001_1073del (p.Gly334AlafsTer?) c.636+16906_636+16978del (n.636+16906_636+16978del) | |
| 15 | g.48520773_48520809delinsAGCGCCCGTTTGTCAGAGCTGTGTAACAGTATCCTGG | CA2175537689 | FBN1 | c.997_1033delinsCCAGGATACTGTTACACAGCTCTGACAAACGGGCGCT (p.Pro333=) c.636+16902_636+16938delinsCCAGGATACTGTTACACAGCTCTGACAAACGGGCGCT (n.636+16902_636+16938delinsCCAGGATACTGTTACACAGCTCTGACAAACGGGCGCT) | |
| 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.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 |
| 15 | g.48520822G>A | CA2628336661 | FBN1 | c.989-5C>T (n.989-5C>T) c.636+16889C>T (n.636+16889C>T) | gnomAD v4 |
| 15 | g.48520822G= | CA2175537828 | FBN1 | c.989-5C= (n.989-5C=) c.636+16889C= (n.636+16889C=) | |
| 15 | g.48520822G>T | CA913187724 | FBN1 | c.989-5C>A (n.989-5C>A) c.636+16889C>A (n.636+16889C>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48520823G>C | CA2628336662 | FBN1 | c.989-6C>G (n.989-6C>G) c.636+16888C>G (n.636+16888C>G) | gnomAD v4 |
| 15 | g.48520823G= | CA2175537832 | FBN1 | c.989-6C= (n.989-6C=) c.636+16888C= (n.636+16888C=) | |
| 15 | g.48520823G>T | CA269562583 | FBN1 | c.989-6C>A (n.989-6C>A) c.636+16888C>A (n.636+16888C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520825C= | CA2175537838 | FBN1 | c.989-8G= (n.989-8G=) c.636+16886G= (n.636+16886G=) | |
| 15 | g.48520825C>T | CA060570 | FBN1 | c.989-8G>A (n.989-8G>A) c.636+16886G>A (n.636+16886G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520825_48520827delinsCAA | CA2175537839 | FBN1 | c.989-10_989-8delinsTTG (n.989-10_989-8delinsTTG) c.636+16884_636+16886delinsTTG (n.636+16884_636+16886delinsTTG) | |
| 15 | g.48520825_48520827delinsTAT | CA913187727 | FBN1 | c.989-10_989-8delinsATA (n.989-10_989-8delinsATA) c.636+16884_636+16886delinsATA (n.636+16884_636+16886delinsATA) | ClinVar dbSNP |
| 15 | g.48520827A= | CA2175537844 | FBN1 | c.989-10T= (n.989-10T=) c.636+16884T= (n.636+16884T=) | |
| 15 | g.48520827A>C | CA2628336663 | FBN1 | c.989-10T>G (n.989-10T>G) c.636+16884T>G (n.636+16884T>G) | gnomAD v4 |
| 15 | g.48520827A>G | CA269562592 | FBN1 | c.989-10T>C (n.989-10T>C) c.636+16884T>C (n.636+16884T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520827A>T | CA060523 | FBN1 | c.989-10T>A (n.989-10T>A) c.636+16884T>A (n.636+16884T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520831_48520833delinsAAC | CA2175537854 | FBN1 | c.989-16_989-14delinsGTT (n.989-16_989-14delinsGTT) c.636+16878_636+16880delinsGTT (n.636+16878_636+16880delinsGTT) | |
| 15 | g.48520836_48520837insCACACA | CA2741427209 | FBN1 | c.989-15_989-14insGTGTGT (n.989-15_989-14insGTGTGT) c.636+16879_636+16880insGTGTGT (n.636+16879_636+16880insGTGTGT) | |
| 15 | g.48520835_48520836del | CA618009378 | FBN1 | c.989-16_989-15del (n.989-16_989-15del) c.636+16878_636+16879del (n.636+16878_636+16879del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520833C= | CA2175537859 | FBN1 | c.989-16G= (n.989-16G=) c.636+16878G= (n.636+16878G=) | |
| 15 | g.48520833C>T | CA618009379 | FBN1 | c.989-16G>A (n.989-16G>A) c.636+16878G>A (n.636+16878G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520835C= | CA2175537863 | FBN1 | c.989-18G= (n.989-18G=) c.636+16876G= (n.636+16876G=) | |
| 15 | g.48520835C>T | CA060526 | FBN1 | c.989-18G>A (n.989-18G>A) c.636+16876G>A (n.636+16876G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520837T>A | CA2628336664 | FBN1 | c.989-20A>T (n.989-20A>T) c.636+16874A>T (n.636+16874A>T) | gnomAD v4 |
| 15 | g.48520837T>C | CA7547940 | FBN1 | c.989-20A>G (n.989-20A>G) c.636+16874A>G (n.636+16874A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48520837T= | CA2175537869 | FBN1 | c.989-20A= (n.989-20A=) c.636+16874A= (n.636+16874A=) | |
| 15 | g.48520837_48520839delinsTAC | CA2175537867 | FBN1 | c.989-22_989-20delinsGTA (n.989-22_989-20delinsGTA) c.636+16872_636+16874delinsGTA (n.636+16872_636+16874delinsGTA) | |
| 15 | g.48520849_48520850dup | CA7547941 | FBN1 | c.989-22_989-21dup (n.989-22_989-21dup) c.636+16872_636+16873dup (n.636+16872_636+16873dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520847_48520850dup | CA2628336665 | FBN1 | c.989-24_989-21dup (n.989-24_989-21dup) c.636+16870_636+16873dup (n.636+16870_636+16873dup) | gnomAD v4 |
| 15 | g.48520845_48520850dup | CA618009380 | FBN1 | c.989-26_989-21dup (n.989-26_989-21dup) c.636+16868_636+16873dup (n.636+16868_636+16873dup) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520849_48520850del | CA7547939 | FBN1 | c.989-22_989-21del (n.989-22_989-21del) c.636+16872_636+16873del (n.636+16872_636+16873del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48520847_48520850del | CA2628336666 | FBN1 | c.989-24_989-21del (n.989-24_989-21del) c.636+16870_636+16873del (n.636+16870_636+16873del) | gnomAD v4 |
| 15 | g.48520839C>A | CA2628336667 | FBN1 | c.989-22G>T (n.989-22G>T) c.636+16872G>T (n.636+16872G>T) | gnomAD v4 |
| 15 | g.48520839C= | CA2175537879 | FBN1 | c.989-22G= (n.989-22G=) c.636+16872G= (n.636+16872G=) | |
| 15 | g.48520839C>G | CA618009381 | FBN1 | c.989-22G>C (n.989-22G>C) c.636+16872G>C (n.636+16872G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520839C>T | CA2575717645 | FBN1 | c.989-22G>A (n.989-22G>A) c.636+16872G>A (n.636+16872G>A) | gnomAD v4 |
| 15 | g.48520841C= | CA2175537881 | FBN1 | c.989-24G= (n.989-24G=) c.636+16870G= (n.636+16870G=) | |
| 15 | g.48520841C>T | CA2175537882 | FBN1 | c.989-24G>A (n.989-24G>A) c.636+16870G>A (n.636+16870G>A) | dbSNP gnomAD v4 |
| 15 | g.48520842A= | CA2175537884 | FBN1 | c.989-25T= (n.989-25T=) c.636+16869T= (n.636+16869T=) | |
| 15 | g.48520842A>G | CA618009382 | FBN1 | c.989-25T>C (n.989-25T>C) c.636+16869T>C (n.636+16869T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520843C>A | CA618009383 | FBN1 | c.989-26G>T (n.989-26G>T) c.636+16868G>T (n.636+16868G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520843C= | CA2175537887 | FBN1 | c.989-26G= (n.989-26G=) c.636+16868G= (n.636+16868G=) | |
| 15 | g.48520843C>G | CA2804074053 | FBN1 | c.989-26G>C (n.989-26G>C) c.636+16868G>C (n.636+16868G>C) | |
| 15 | g.48520843C>T | CA713423447 | FBN1 | c.989-26G>A (n.989-26G>A) c.636+16868G>A (n.636+16868G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520845C>A | CA2628336668 | FBN1 | c.989-28G>T (n.989-28G>T) c.636+16866G>T (n.636+16866G>T) | gnomAD v4 |
| 15 | g.48520846del | CA2628336669 | FBN1 | c.989-29del (n.989-29del) c.636+16865del (n.636+16865del) | gnomAD v4 |
| 15 | g.48520846A>G | CA2804074054 | FBN1 | c.989-29T>C (n.989-29T>C) c.636+16865T>C (n.636+16865T>C) | |
| 15 | g.48520847C= | CA2175537892 | FBN1 | c.989-30G= (n.989-30G=) c.636+16864G= (n.636+16864G=) | |
| 15 | g.48520847C>T | CA060541 | FBN1 | c.989-30G>A (n.989-30G>A) c.636+16864G>A (n.636+16864G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520850A= | CA2175537898 | FBN1 | c.989-33T= (n.989-33T=) c.636+16861T= (n.636+16861T=) | |
| 15 | g.48520850A>G | CA060545 | FBN1 | c.989-33T>C (n.989-33T>C) c.636+16861T>C (n.636+16861T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520852C>A | CA2175537904 | FBN1 | c.989-35G>T (n.989-35G>T) c.636+16859G>T (n.636+16859G>T) | dbSNP |
| 15 | g.48520852C= | CA2175537901 | FBN1 | c.989-35G= (n.989-35G=) c.636+16859G= (n.636+16859G=) | |
| 15 | g.48520852C>G | CA2628336670 | FBN1 | c.989-35G>C (n.989-35G>C) c.636+16859G>C (n.636+16859G>C) | gnomAD v4 |
| 15 | g.48520852C>T | CA269562625 | FBN1 | c.989-35G>A (n.989-35G>A) c.636+16859G>A (n.636+16859G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520853G>A | CA060549 | FBN1 | c.989-36C>T (n.989-36C>T) c.636+16858C>T (n.636+16858C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520853G= | CA2175537906 | FBN1 | c.989-36C= (n.989-36C=) c.636+16858C= (n.636+16858C=) | |
| 15 | g.48520855T>G | CA2575717646 | FBN1 | c.989-38A>C (n.989-38A>C) c.636+16856A>C (n.636+16856A>C) | gnomAD v4 |
| 15 | g.48520857A>C | CA2628336671 | FBN1 | c.989-40T>G (n.989-40T>G) c.636+16854T>G (n.636+16854T>G) | gnomAD v4 |
| 15 | g.48520857A>T | CA2628336672 | FBN1 | c.989-40T>A (n.989-40T>A) c.636+16854T>A (n.636+16854T>A) | gnomAD v4 |
| 15 | g.48520857_48520858insCTAACAAATGAGGAGAGAGGCCTTCTGCACTCATAGATTTATTATGCTTGG | CA2741427210 | FBN1 | c.989-41_989-40insCCAAGCATAATAAATCTATGAGTGCAGAAGGCCTCTCTCCTCATTTGTTAG (n.989-41_989-40insCCAAGCATAATAAATCTATGAGTGCAGAAGGCCTCTCTCCTCATTTGTTAG) c.636+16853_636+16854insCCAAGCATAATAAATCTATGAGTGCAGAAGGCCTCTCTCCTCATTTGTTAG (n.636+16853_636+16854insCCAAGCATAATAAATCTATGAGTGCAGAAGGCCTCTCTCCTCATTTGTTAG) | |
| 15 | g.48520858G>A | CA060553 | FBN1 | c.989-41C>T (n.989-41C>T) c.636+16853C>T (n.636+16853C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520858G= | CA2175537908 | FBN1 | c.989-41C= (n.989-41C=) c.636+16853C= (n.636+16853C=) | |
| 15 | g.48520859A>G | CA2575717647 | FBN1 | c.989-42T>C (n.989-42T>C) c.636+16852T>C (n.636+16852T>C) | |
| 15 | g.48520862_48520864del | CA2628336673 | FBN1 | c.989-44_989-42del (n.989-44_989-42del) c.636+16850_636+16852del (n.636+16850_636+16852del) | gnomAD v4 |
| 15 | g.48520862A= | CA2175537912 | FBN1 | c.989-45T= (n.989-45T=) c.636+16849T= (n.636+16849T=) | |
| 15 | g.48520862A>C | CA618009384 | FBN1 | c.989-45T>G (n.989-45T>G) c.636+16849T>G (n.636+16849T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520862A>G | CA2628336674 | FBN1 | c.989-45T>C (n.989-45T>C) c.636+16849T>C (n.636+16849T>C) | gnomAD v4 |
| 15 | g.48520863T>C | CA2175537915 | FBN1 | c.989-46A>G (n.989-46A>G) c.636+16848A>G (n.636+16848A>G) | dbSNP |
| 15 | g.48520863T= | CA2175537914 | FBN1 | c.989-46A= (n.989-46A=) c.636+16848A= (n.636+16848A=) | |
| 15 | g.48520865C= | CA2175537918 | FBN1 | c.989-48G= (n.989-48G=) c.636+16846G= (n.636+16846G=) | |
| 15 | g.48520865C>T | CA060558 | FBN1 | c.989-48G>A (n.989-48G>A) c.636+16846G>A (n.636+16846G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520867T>G | CA060562 | FBN1 | c.989-50A>C (n.989-50A>C) c.636+16844A>C (n.636+16844A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520867T= | CA2175537920 | FBN1 | c.989-50A= (n.989-50A=) c.636+16844A= (n.636+16844A=) | |
| 15 | g.48520868G>A | CA2628336675 | FBN1 | c.989-51C>T (n.989-51C>T) c.636+16843C>T (n.636+16843C>T) | gnomAD v4 |
| 15 | g.48520869T>C | CA060567 | FBN1 | c.989-52A>G (n.989-52A>G) c.636+16842A>G (n.636+16842A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520869T= | CA2175537922 | FBN1 | c.989-52A= (n.989-52A=) c.636+16842A= (n.636+16842A=) | |
| 15 | g.48520870A>T | CA2628336676 | FBN1 | c.989-53T>A (n.989-53T>A) c.636+16841T>A (n.636+16841T>A) | gnomAD v4 |
| 15 | g.48520873_48520874insCCACACCCAA | CA2804074055 | FBN1 | c.989-56_989-55insTGGGTGTGGT (n.989-56_989-55insTGGGTGTGGT) c.636+16838_636+16839insTGGGTGTGGT (n.636+16838_636+16839insTGGGTGTGGT) | |
| 15 | g.48520875C>A | CA2628336677 | FBN1 | c.989-58G>T (n.989-58G>T) c.636+16836G>T (n.636+16836G>T) | gnomAD v4 |
| 15 | g.48520875_48520876delinsCA | CA2175537924 | FBN1 | c.989-59_989-58delinsTG (n.989-59_989-58delinsTG) c.636+16835_636+16836delinsTG (n.636+16835_636+16836delinsTG) | |
| 15 | g.48520876del | CA969568230 | FBN1 | c.989-59del (n.989-59del) c.636+16835del (n.636+16835del) | dbSNP gnomAD v3 gnomAD v4 |