| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48446805_48446808del | CA891844489 | FBN1 | c.5688_5691del (p.Arg1897MetfsTer?) n.4362_4365del c.687_690del (p.Arg230MetfsTer?) c.*1451_*1454del (n.*1451_*1454del) c.995_998del | ClinVar dbSNP |
| 15 | g.48446807_48446808delinsTC | CA2175495392 | FBN1 | c.5686_5687delinsGA (p.Glu1896=) n.4360_4361delinsGA c.685_686delinsGA (p.Glu229=) c.*1449_*1450delinsGA (n.*1449_*1450delinsGA) c.993_994delinsGA | |
| 15 | g.48446808del | CA16619951 | FBN1 | c.5686del (p.Glu1896LysfsTer?) n.4360del c.685del (p.Glu229LysfsTer?) c.*1449del (n.*1449del) c.993del | ClinVar dbSNP |
| 15 | g.48446808C>A | CA392341419 | FBN1 | c.5686G>T (p.Glu1896Ter) n.4360G>T c.685G>T (p.Glu229Ter) c.*1449G>T (n.*1449G>T) c.993G>T | |
| 15 | g.48446808C>G | CA392341420 | FBN1 | c.5686G>C (p.Glu1896Gln) n.4360G>C c.685G>C (p.Glu229Gln) c.*1449G>C (n.*1449G>C) c.993G>C | |
| 15 | g.48446808C>T | CA392341423 | FBN1 | c.5686G>A (p.Glu1896Lys) n.4360G>A c.685G>A (p.Glu229Lys) c.*1449G>A (n.*1449G>A) c.993G>A | |
| 15 | g.48446809A>C | CA392341425 | FBN1 | c.5685T>G (p.Cys1895Trp) n.4359T>G c.684T>G (p.Cys228Trp) c.*1448T>G (n.*1448T>G) c.992T>G | |
| 15 | g.48446809A>G | CA490023023 | FBN1 | c.5685T>C (p.Cys1895=) n.4359T>C c.684T>C (p.Cys228=) c.*1448T>C (n.*1448T>C) c.992T>C | |
| 15 | g.48446809A>T | CA392341426 | FBN1 | c.5685T>A (p.Cys1895Ter) n.4359T>A c.684T>A (p.Cys228Ter) c.*1448T>A (n.*1448T>A) c.992T>A | |
| 15 | g.48446809_48446810delinsAC | CA2175495406 | FBN1 | c.5684_5685delinsGT (p.Cys1895=) n.4358_4359delinsGT c.683_684delinsGT (p.Cys228=) c.*1447_*1448delinsGT (n.*1447_*1448delinsGT) c.991_992delinsGT | |
| 15 | g.48446810del | CA658824297 | FBN1 | c.5684del (p.Cys1895LeufsTer?) n.4358del c.683del (p.Cys228LeufsTer?) c.*1447del (n.*1447del) c.991del | ClinVar dbSNP |
| 15 | g.48446810C>A | CA392341428 | FBN1 | c.5684G>T (p.Cys1895Phe) n.4358G>T c.683G>T (p.Cys228Phe) c.*1447G>T (n.*1447G>T) c.991G>T | |
| 15 | g.48446810C>G | CA392341430 | FBN1 | c.5684G>C (p.Cys1895Ser) n.4358G>C c.683G>C (p.Cys228Ser) c.*1447G>C (n.*1447G>C) c.991G>C | |
| 15 | g.48446810C>T | CA392341432 | FBN1 | c.5684G>A (p.Cys1895Tyr) n.4358G>A c.683G>A (p.Cys228Tyr) c.*1447G>A (n.*1447G>A) c.991G>A | ClinVar |
| 15 | g.48446811A= | CA2175495412 | FBN1 | c.5683T= (p.Cys1895=) n.4357T= c.682T= (p.Cys228=) c.*1446T= (n.*1446T=) c.990T= | |
| 15 | g.48446811A>C | CA392341433 | FBN1 | c.5683T>G (p.Cys1895Gly) n.4357T>G c.682T>G (p.Cys228Gly) c.*1446T>G (n.*1446T>G) c.990T>G | |
| 15 | g.48446811A>G | CA10583241 | FBN1 | c.5683T>C (p.Cys1895Arg) n.4357T>C c.682T>C (p.Cys228Arg) c.*1446T>C (n.*1446T>C) c.990T>C | ClinVar dbSNP |
| 15 | g.48446811A>T | CA392341434 | FBN1 | c.5683T>A (p.Cys1895Ser) n.4357T>A c.682T>A (p.Cys228Ser) c.*1446T>A (n.*1446T>A) c.990T>A | |
| 15 | g.48446811_48446812insAA | CA2695220271 | FBN1 | c.5683_5684insTT (p.Cys1895PhefsTer?) n.4357_4358insTT c.682_683insTT (p.Cys228PhefsTer?) c.*1446_*1447insTT (n.*1446_*1447insTT) c.990_991insTT | |
| 15 | g.48446812T>A | CA392341435 | FBN1 | c.5682A>T (p.Glu1894Asp) n.4356A>T c.681A>T (p.Glu227Asp) c.*1445A>T (n.*1445A>T) c.989A>T | |
| 15 | g.48446812T>C | CA490023024 | FBN1 | c.5682A>G (p.Glu1894=) n.4356A>G c.681A>G (p.Glu227=) c.*1445A>G (n.*1445A>G) c.989A>G | |
| 15 | g.48446812T>G | CA392341436 | FBN1 | c.5682A>C (p.Glu1894Asp) n.4356A>C c.681A>C (p.Glu227Asp) c.*1445A>C (n.*1445A>C) c.989A>C | |
| 15 | g.48446813T>A | CA392341439 | FBN1 | c.5681A>T (p.Glu1894Val) n.4355A>T c.680A>T (p.Glu227Val) c.*1444A>T (n.*1444A>T) c.988A>T | |
| 15 | g.48446813T>C | CA392341438 | FBN1 | c.5681A>G (p.Glu1894Gly) n.4355A>G c.680A>G (p.Glu227Gly) c.*1444A>G (n.*1444A>G) c.988A>G | |
| 15 | g.48446813T>G | CA392341437 | FBN1 | c.5681A>C (p.Glu1894Ala) n.4355A>C c.680A>C (p.Glu227Ala) c.*1444A>C (n.*1444A>C) c.988A>C | |
| 15 | g.48446814C>A | CA392341440 | FBN1 | c.5680G>T (p.Glu1894Ter) n.4354G>T c.679G>T (p.Glu227Ter) c.*1443G>T (n.*1443G>T) c.987G>T | |
| 15 | g.48446814C= | CA2175495421 | FBN1 | c.5680G= (p.Glu1894=) n.4354G= c.679G= (p.Glu227=) c.*1443G= (n.*1443G=) c.987G= | |
| 15 | g.48446814C>G | CA392341441 | FBN1 | c.5680G>C (p.Glu1894Gln) n.4354G>C c.679G>C (p.Glu227Gln) c.*1443G>C (n.*1443G>C) c.987G>C | |
| 15 | g.48446814C>T | CA16607803 | FBN1 | c.5680G>A (p.Glu1894Lys) n.4354G>A c.679G>A (p.Glu227Lys) c.*1443G>A (n.*1443G>A) c.987G>A | ClinVar dbSNP |
| 15 | g.48446815A= | CA2175495428 | FBN1 | c.5679T= (p.Asn1893=) n.4353T= c.678T= (p.Asn226=) c.*1442T= (n.*1442T=) c.986T= | |
| 15 | g.48446815A>C | CA392341442 | FBN1 | c.5679T>G (p.Asn1893Lys) n.4353T>G c.678T>G (p.Asn226Lys) c.*1442T>G (n.*1442T>G) c.986T>G | ClinVar dbSNP |
| 15 | g.48446815A>G | CA490023025 | FBN1 | c.5679T>C (p.Asn1893=) n.4353T>C c.678T>C (p.Asn226=) c.*1442T>C (n.*1442T>C) c.986T>C | |
| 15 | g.48446815A>T | CA392341443 | FBN1 | c.5679T>A (p.Asn1893Lys) n.4353T>A c.678T>A (p.Asn226Lys) c.*1442T>A (n.*1442T>A) c.986T>A | |
| 15 | g.48446817_48446820del | CA2695220273 | FBN1 | c.5676_5679del (p.Ile1892MetfsTer?) n.4350_4353del c.675_678del (p.Ile225MetfsTer?) c.*1439_*1442del (n.*1439_*1442del) c.983_986del | |
| 15 | g.48446816T>A | CA392341444 | FBN1 | c.5678A>T (p.Asn1893Ile) n.4352A>T c.677A>T (p.Asn226Ile) c.*1441A>T (n.*1441A>T) c.985A>T | |
| 15 | g.48446816T>C | CA392341445 | FBN1 | c.5678A>G (p.Asn1893Ser) n.4352A>G c.677A>G (p.Asn226Ser) c.*1441A>G (n.*1441A>G) c.985A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.48446816T>G | CA392341446 | FBN1 | c.5678A>C (p.Asn1893Thr) n.4352A>C c.677A>C (p.Asn226Thr) c.*1441A>C (n.*1441A>C) c.985A>C | |
| 15 | g.48446816T= | CA2175495432 | FBN1 | c.5678A= (p.Asn1893=) n.4352A= c.677A= (p.Asn226=) c.*1441A= (n.*1441A=) c.985A= | |
| 15 | g.48446817T>A | CA392341447 | FBN1 | c.5677A>T (p.Asn1893Tyr) n.4351A>T c.676A>T (p.Asn226Tyr) c.*1440A>T (n.*1440A>T) c.984A>T | |
| 15 | g.48446817T>C | CA392341448 | FBN1 | c.5677A>G (p.Asn1893Asp) n.4351A>G c.676A>G (p.Asn226Asp) c.*1440A>G (n.*1440A>G) c.984A>G | |
| 15 | g.48446817T>G | CA392341449 | FBN1 | c.5677A>C (p.Asn1893His) n.4351A>C c.676A>C (p.Asn226His) c.*1440A>C (n.*1440A>C) c.984A>C | |
| 15 | g.48446817_48446819delinsTTA | CA2175495438 | FBN1 | c.5675_5677delinsTAA (p.Ile1892=) n.4349_4351delinsTAA c.674_676delinsTAA (p.Ile225=) c.*1438_*1440delinsTAA (n.*1438_*1440delinsTAA) c.982_984delinsTAA | |
| 15 | g.48446818T>A | CA490023026 | FBN1 | c.5676A>T (p.Ile1892=) n.4350A>T c.675A>T (p.Ile225=) c.*1439A>T (n.*1439A>T) c.983A>T | |
| 15 | g.48446818T>C | CA392341450 | FBN1 | c.5676A>G (p.Ile1892Met) n.4350A>G c.675A>G (p.Ile225Met) c.*1439A>G (n.*1439A>G) c.983A>G | dbSNP |
| 15 | g.48446818T>G | CA490023027 | FBN1 | c.5676A>C (p.Ile1892=) n.4350A>C c.675A>C (p.Ile225=) c.*1439A>C (n.*1439A>C) c.983A>C | |
| 15 | g.48446818T= | CA2175495447 | FBN1 | c.5676A= (p.Ile1892=) n.4350A= c.675A= (p.Ile225=) c.*1439A= (n.*1439A=) c.983A= | |
| 15 | g.48446819_48446820del | CA915945986 | FBN1 | c.5675_5676del (p.Ile1892LysfsTer2) n.4349_4350del c.674_675del (p.Ile225LysfsTer2) c.*1438_*1439del (n.*1438_*1439del) c.982_983del | ClinVar dbSNP |
| 15 | g.48446819A>C | CA392341453 | FBN1 | c.5675T>G (p.Ile1892Arg) n.4349T>G c.674T>G (p.Ile225Arg) c.*1438T>G (n.*1438T>G) c.982T>G | |
| 15 | g.48446819A>G | CA392341452 | FBN1 | c.5675T>C (p.Ile1892Thr) n.4349T>C c.674T>C (p.Ile225Thr) c.*1438T>C (n.*1438T>C) c.982T>C | gnomAD v4 |
| 15 | g.48446819A>T | CA392341451 | FBN1 | c.5675T>A (p.Ile1892Lys) n.4349T>A c.674T>A (p.Ile225Lys) c.*1438T>A (n.*1438T>A) c.982T>A |