| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128332993G>A | CA360755210 | FBN2 | n.925C>T n.1006C>T c.4141C>T (p.His1381Tyr) c.691C>T (p.His231Tyr) c.4042C>T (p.His1348Tyr) c.4138C>T (p.His1380Tyr) c.3988C>T (p.His1330Tyr) | gnomAD v4 |
| 5 | g.128332993G>C | CA360755211 | FBN2 | n.925C>G n.1006C>G c.4141C>G (p.His1381Asp) c.691C>G (p.His231Asp) c.4042C>G (p.His1348Asp) c.4138C>G (p.His1380Asp) c.3988C>G (p.His1330Asp) | |
| 5 | g.128332993G= | CA1581268404 | FBN2 | n.925C= n.1006C= c.4141C= (p.His1381=) c.691C= (p.His231=) c.4042C= (p.His1348=) c.4138C= (p.His1380=) c.3988C= (p.His1330=) | |
| 5 | g.128332993G>T | CA319740 | FBN2 | n.925C>A n.1006C>A c.4141C>A (p.His1381Asn) c.691C>A (p.His231Asn) c.4042C>A (p.His1348Asn) c.4138C>A (p.His1380Asn) c.3988C>A (p.His1330Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128332994C>A | CA360755212 | FBN2 | n.924G>T n.1005G>T c.4140G>T (p.Met1380Ile) c.690G>T (p.Met230Ile) c.4041G>T (p.Met1347Ile) c.4137G>T (p.Met1379Ile) c.3987G>T (p.Met1329Ile) | COSMIC COSMIC |
| 5 | g.128332994C= | CA1581268405 | FBN2 | n.924G= n.1005G= c.4140G= (p.Met1380=) c.690G= (p.Met230=) c.4041G= (p.Met1347=) c.4137G= (p.Met1379=) c.3987G= (p.Met1329=) | |
| 5 | g.128332994C>G | CA360755216 | FBN2 | n.924G>C n.1005G>C c.4140G>C (p.Met1380Ile) c.690G>C (p.Met230Ile) c.4041G>C (p.Met1347Ile) c.4137G>C (p.Met1379Ile) c.3987G>C (p.Met1329Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128332994C>T | CA360755213 | FBN2 | n.924G>A n.1005G>A c.4140G>A (p.Met1380Ile) c.690G>A (p.Met230Ile) c.4041G>A (p.Met1347Ile) c.4137G>A (p.Met1379Ile) c.3987G>A (p.Met1329Ile) | dbSNP COSMIC COSMIC |
| 5 | g.128332995A>C | CA360755221 | FBN2 | n.923T>G n.1004T>G c.4139T>G (p.Met1380Arg) c.689T>G (p.Met230Arg) c.4040T>G (p.Met1347Arg) c.4136T>G (p.Met1379Arg) c.3986T>G (p.Met1329Arg) | |
| 5 | g.128332995A>G | CA360755224 | FBN2 | n.923T>C n.1004T>C c.4139T>C (p.Met1380Thr) c.689T>C (p.Met230Thr) c.4040T>C (p.Met1347Thr) c.4136T>C (p.Met1379Thr) c.3986T>C (p.Met1329Thr) | |
| 5 | g.128332995A>T | CA360755227 | FBN2 | n.923T>A n.1004T>A c.4139T>A (p.Met1380Lys) c.689T>A (p.Met230Lys) c.4040T>A (p.Met1347Lys) c.4136T>A (p.Met1379Lys) c.3986T>A (p.Met1329Lys) | COSMIC COSMIC |
| 5 | g.128332996T>A | CA360755229 | FBN2 | n.922A>T n.1003A>T c.4138A>T (p.Met1380Leu) c.688A>T (p.Met230Leu) c.4039A>T (p.Met1347Leu) c.4135A>T (p.Met1379Leu) c.3985A>T (p.Met1329Leu) | |
| 5 | g.128332996T>C | CA360755230 | FBN2 | n.922A>G n.1003A>G c.4138A>G (p.Met1380Val) c.688A>G (p.Met230Val) c.4039A>G (p.Met1347Val) c.4135A>G (p.Met1379Val) c.3985A>G (p.Met1329Val) | |
| 5 | g.128332996T>G | CA360755233 | FBN2 | n.922A>C n.1003A>C c.4138A>C (p.Met1380Leu) c.688A>C (p.Met230Leu) c.4039A>C (p.Met1347Leu) c.4135A>C (p.Met1379Leu) c.3985A>C (p.Met1329Leu) | |
| 5 | g.128332997G>A | CA446309531 | FBN2 | n.921C>T n.1002C>T c.4137C>T (p.Asp1379=) c.687C>T (p.Asp229=) c.4038C>T (p.Asp1346=) c.4134C>T (p.Asp1378=) c.3984C>T (p.Asp1328=) | gnomAD v4 |
| 5 | g.128332997G>C | CA360755237 | FBN2 | n.921C>G n.1002C>G c.4137C>G (p.Asp1379Glu) c.687C>G (p.Asp229Glu) c.4038C>G (p.Asp1346Glu) c.4134C>G (p.Asp1378Glu) c.3984C>G (p.Asp1328Glu) | |
| 5 | g.128332997G>T | CA360755241 | FBN2 | n.921C>A n.1002C>A c.4137C>A (p.Asp1379Glu) c.687C>A (p.Asp229Glu) c.4038C>A (p.Asp1346Glu) c.4134C>A (p.Asp1378Glu) c.3984C>A (p.Asp1328Glu) | |
| 5 | g.128332998T>A | CA360755247 | FBN2 | n.920A>T n.1001A>T c.4136A>T (p.Asp1379Val) c.686A>T (p.Asp229Val) c.4037A>T (p.Asp1346Val) c.4133A>T (p.Asp1378Val) c.3983A>T (p.Asp1328Val) | |
| 5 | g.128332998T>C | CA360755250 | FBN2 | n.920A>G n.1001A>G c.4136A>G (p.Asp1379Gly) c.686A>G (p.Asp229Gly) c.4037A>G (p.Asp1346Gly) c.4133A>G (p.Asp1378Gly) c.3983A>G (p.Asp1328Gly) | |
| 5 | g.128332998T>G | CA360755254 | FBN2 | n.920A>C n.1001A>C c.4136A>C (p.Asp1379Ala) c.686A>C (p.Asp229Ala) c.4037A>C (p.Asp1346Ala) c.4133A>C (p.Asp1378Ala) c.3983A>C (p.Asp1328Ala) | |
| 5 | g.128332999C>A | CA360755262 | FBN2 | n.919G>T n.1000G>T c.4135G>T (p.Asp1379Tyr) c.685G>T (p.Asp229Tyr) c.4036G>T (p.Asp1346Tyr) c.4132G>T (p.Asp1378Tyr) c.3982G>T (p.Asp1328Tyr) | gnomAD v4 COSMIC COSMIC |
| 5 | g.128332999C= | CA1581268406 | FBN2 | n.919G= n.1000G= c.4135G= (p.Asp1379=) c.685G= (p.Asp229=) c.4036G= (p.Asp1346=) c.4132G= (p.Asp1378=) c.3982G= (p.Asp1328=) | |
| 5 | g.128332999C>G | CA360755268 | FBN2 | n.919G>C n.1000G>C c.4135G>C (p.Asp1379His) c.685G>C (p.Asp229His) c.4036G>C (p.Asp1346His) c.4132G>C (p.Asp1378His) c.3982G>C (p.Asp1328His) | ClinVar |
| 5 | g.128332999C>T | CA3395047 | FBN2 | n.919G>A n.1000G>A c.4135G>A (p.Asp1379Asn) c.685G>A (p.Asp229Asn) c.4036G>A (p.Asp1346Asn) c.4132G>A (p.Asp1378Asn) c.3982G>A (p.Asp1328Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128333000G>A | CA3395048 | FBN2 | n.918C>T n.999C>T c.4134C>T (p.Cys1378=) c.684C>T (p.Cys228=) c.4035C>T (p.Cys1345=) c.4131C>T (p.Cys1377=) c.3981C>T (p.Cys1327=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128333000G>C | CA360755273 | FBN2 | n.918C>G n.999C>G c.4134C>G (p.Cys1378Trp) c.684C>G (p.Cys228Trp) c.4035C>G (p.Cys1345Trp) c.4131C>G (p.Cys1377Trp) c.3981C>G (p.Cys1327Trp) | |
| 5 | g.128333000G= | CA1581268407 | FBN2 | n.918C= n.999C= c.4134C= (p.Cys1378=) c.684C= (p.Cys228=) c.4035C= (p.Cys1345=) c.4131C= (p.Cys1377=) c.3981C= (p.Cys1327=) | |
| 5 | g.128333000G>T | CA360755276 | FBN2 | n.918C>A n.999C>A c.4134C>A (p.Cys1378Ter) c.684C>A (p.Cys228Ter) c.4035C>A (p.Cys1345Ter) c.4131C>A (p.Cys1377Ter) c.3981C>A (p.Cys1327Ter) | ClinVar gnomAD v4 |
| 5 | g.128333001C>A | CA360755280 | FBN2 | n.917G>T n.998G>T c.4133G>T (p.Cys1378Phe) c.683G>T (p.Cys228Phe) c.4034G>T (p.Cys1345Phe) c.4130G>T (p.Cys1377Phe) c.3980G>T (p.Cys1327Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128333001C= | CA1581268408 | FBN2 | n.917G= n.998G= c.4133G= (p.Cys1378=) c.683G= (p.Cys228=) c.4034G= (p.Cys1345=) c.4130G= (p.Cys1377=) c.3980G= (p.Cys1327=) | |
| 5 | g.128333001C>G | CA360755282 | FBN2 | n.917G>C n.998G>C c.4133G>C (p.Cys1378Ser) c.683G>C (p.Cys228Ser) c.4034G>C (p.Cys1345Ser) c.4130G>C (p.Cys1377Ser) c.3980G>C (p.Cys1327Ser) | |
| 5 | g.128333001C>T | CA360755284 | FBN2 | n.917G>A n.998G>A c.4133G>A (p.Cys1378Tyr) c.683G>A (p.Cys228Tyr) c.4034G>A (p.Cys1345Tyr) c.4130G>A (p.Cys1377Tyr) c.3980G>A (p.Cys1327Tyr) | |
| 5 | g.128333002A= | CA1581268409 | FBN2 | n.916T= n.997T= c.4132T= (p.Cys1378=) c.682T= (p.Cys228=) c.4033T= (p.Cys1345=) c.4129T= (p.Cys1377=) c.3979T= (p.Cys1327=) | |
| 5 | g.128333002A>C | CA360755291 | FBN2 | n.916T>G n.997T>G c.4132T>G (p.Cys1378Gly) c.682T>G (p.Cys228Gly) c.4033T>G (p.Cys1345Gly) c.4129T>G (p.Cys1377Gly) c.3979T>G (p.Cys1327Gly) | |
| 5 | g.128333002A>G | CA324975 | FBN2 | n.916T>C n.997T>C c.4132T>C (p.Cys1378Arg) c.682T>C (p.Cys228Arg) c.4033T>C (p.Cys1345Arg) c.4129T>C (p.Cys1377Arg) c.3979T>C (p.Cys1327Arg) | ClinVar dbSNP |
| 5 | g.128333002A>T | CA360755288 | FBN2 | n.916T>A n.997T>A c.4132T>A (p.Cys1378Ser) c.682T>A (p.Cys228Ser) c.4033T>A (p.Cys1345Ser) c.4129T>A (p.Cys1377Ser) c.3979T>A (p.Cys1327Ser) | |
| 5 | g.128333003G>A | CA446309532 | FBN2 | n.915C>T n.996C>T c.4131C>T (p.Asn1377=) c.681C>T (p.Asn227=) c.4032C>T (p.Asn1344=) c.4128C>T (p.Asn1376=) c.3978C>T (p.Asn1326=) | gnomAD v4 |
| 5 | g.128333003G>C | CA360755293 | FBN2 | n.915C>G n.996C>G c.4131C>G (p.Asn1377Lys) c.681C>G (p.Asn227Lys) c.4032C>G (p.Asn1344Lys) c.4128C>G (p.Asn1376Lys) c.3978C>G (p.Asn1326Lys) | |
| 5 | g.128333003G= | CA1581268410 | FBN2 | n.915C= n.996C= c.4131C= (p.Asn1377=) c.681C= (p.Asn227=) c.4032C= (p.Asn1344=) c.4128C= (p.Asn1376=) c.3978C= (p.Asn1326=) | |
| 5 | g.128333003G>T | CA360755296 | FBN2 | n.915C>A n.996C>A c.4131C>A (p.Asn1377Lys) c.681C>A (p.Asn227Lys) c.4032C>A (p.Asn1344Lys) c.4128C>A (p.Asn1376Lys) c.3978C>A (p.Asn1326Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128333004T>A | CA360755299 | FBN2 | n.914A>T n.995A>T c.4130A>T (p.Asn1377Ile) c.680A>T (p.Asn227Ile) c.4031A>T (p.Asn1344Ile) c.4127A>T (p.Asn1376Ile) c.3977A>T (p.Asn1326Ile) | |
| 5 | g.128333004T>C | CA360755300 | FBN2 | n.914A>G n.995A>G c.4130A>G (p.Asn1377Ser) c.680A>G (p.Asn227Ser) c.4031A>G (p.Asn1344Ser) c.4127A>G (p.Asn1376Ser) c.3977A>G (p.Asn1326Ser) | |
| 5 | g.128333004T>G | CA360755301 | FBN2 | n.914A>C n.995A>C c.4130A>C (p.Asn1377Thr) c.680A>C (p.Asn227Thr) c.4031A>C (p.Asn1344Thr) c.4127A>C (p.Asn1376Thr) c.3977A>C (p.Asn1326Thr) | |
| 5 | g.128333005T>A | CA360755304 | FBN2 | n.913A>T n.994A>T c.4129A>T (p.Asn1377Tyr) c.679A>T (p.Asn227Tyr) c.4030A>T (p.Asn1344Tyr) c.4126A>T (p.Asn1376Tyr) c.3976A>T (p.Asn1326Tyr) | |
| 5 | g.128333005T>C | CA360755302 | FBN2 | n.913A>G n.994A>G c.4129A>G (p.Asn1377Asp) c.679A>G (p.Asn227Asp) c.4030A>G (p.Asn1344Asp) c.4126A>G (p.Asn1376Asp) c.3976A>G (p.Asn1326Asp) | |
| 5 | g.128333005T>G | CA360755303 | FBN2 | n.913A>C n.994A>C c.4129A>C (p.Asn1377His) c.679A>C (p.Asn227His) c.4030A>C (p.Asn1344His) c.4126A>C (p.Asn1376His) c.3976A>C (p.Asn1326His) | |
| 5 | g.128333006A>C | CA360755306 | FBN2 | n.912T>G n.993T>G c.4128T>G (p.His1376Gln) c.678T>G (p.His226Gln) c.4029T>G (p.His1343Gln) c.4125T>G (p.His1375Gln) c.3975T>G (p.His1325Gln) | gnomAD v4 |
| 5 | g.128333006A>G | CA446309533 | FBN2 | n.912T>C n.993T>C c.4128T>C (p.His1376=) c.678T>C (p.His226=) c.4029T>C (p.His1343=) c.4125T>C (p.His1375=) c.3975T>C (p.His1325=) | |
| 5 | g.128333006A>T | CA360755308 | FBN2 | n.912T>A n.993T>A c.4128T>A (p.His1376Gln) c.678T>A (p.His226Gln) c.4029T>A (p.His1343Gln) c.4125T>A (p.His1375Gln) c.3975T>A (p.His1325Gln) | |
| 5 | g.128333007T>A | CA360755312 | FBN2 | n.911A>T n.992A>T c.4127A>T (p.His1376Leu) c.677A>T (p.His226Leu) c.4028A>T (p.His1343Leu) c.4124A>T (p.His1375Leu) c.3974A>T (p.His1325Leu) | dbSNP |