| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48448802A= | CA2175498268 | FBN1 | c.5637T= (p.Gly1879=) n.4311T= c.636T= (p.Gly212=) c.*1400T= (n.*1400T=) c.944T= | |
| 15 | g.48448802A>C | CA490023134 | FBN1 | c.5637T>G (p.Gly1879=) n.4311T>G c.636T>G (p.Gly212=) c.*1400T>G (n.*1400T>G) c.944T>G | ClinVar dbSNP |
| 15 | g.48448802A>G | CA490023135 | FBN1 | c.5637T>C (p.Gly1879=) n.4311T>C c.636T>C (p.Gly212=) c.*1400T>C (n.*1400T>C) c.944T>C | gnomAD v4 |
| 15 | g.48448802A>T | CA490023137 | FBN1 | c.5637T>A (p.Gly1879=) n.4311T>A c.636T>A (p.Gly212=) c.*1400T>A (n.*1400T>A) c.944T>A | |
| 15 | g.48448802_48448804delinsACC | CA2175498261 | FBN1 | c.5635_5637delinsGGT (p.Gly1879=) n.4309_4311delinsGGT c.634_636delinsGGT (p.Gly212=) c.*1398_*1400delinsGGT (n.*1398_*1400delinsGGT) c.942_944delinsGGT | |
| 15 | g.48448803C>A | CA392341820 | FBN1 | c.5636G>T (p.Gly1879Val) n.4310G>T c.635G>T (p.Gly212Val) c.*1399G>T (n.*1399G>T) c.943G>T | |
| 15 | g.48448803C= | CA2175498281 | FBN1 | c.5636G= (p.Gly1879=) n.4310G= c.635G= (p.Gly212=) c.*1399G= (n.*1399G=) c.943G= | |
| 15 | g.48448803C>G | CA392341822 | FBN1 | c.5636G>C (p.Gly1879Ala) n.4310G>C c.635G>C (p.Gly212Ala) c.*1399G>C (n.*1399G>C) c.943G>C | |
| 15 | g.48448803C>T | CA392341824 | FBN1 | c.5636G>A (p.Gly1879Asp) n.4310G>A c.635G>A (p.Gly212Asp) c.*1399G>A (n.*1399G>A) c.943G>A | ClinVar dbSNP |
| 15 | g.48448803_48448804del | CA658824298 | FBN1 | c.5635_5636del (p.Gly1879PhefsTer2) n.4309_4310del c.634_635del (p.Gly212PhefsTer2) c.*1398_*1399del (n.*1398_*1399del) c.942_943del | ClinVar dbSNP |
| 15 | g.48448804C>A | CA392341828 | FBN1 | c.5635G>T (p.Gly1879Cys) n.4309G>T c.634G>T (p.Gly212Cys) c.*1398G>T (n.*1398G>T) c.942G>T | |
| 15 | g.48448804C= | CA2175498291 | FBN1 | c.5635G= (p.Gly1879=) n.4309G= c.634G= (p.Gly212=) c.*1398G= (n.*1398G=) c.942G= | |
| 15 | g.48448804C>G | CA392341831 | FBN1 | c.5635G>C (p.Gly1879Arg) n.4309G>C c.634G>C (p.Gly212Arg) c.*1398G>C (n.*1398G>C) c.942G>C | ClinVar dbSNP |
| 15 | g.48448804C>T | CA392341832 | FBN1 | c.5635G>A (p.Gly1879Ser) n.4309G>A c.634G>A (p.Gly212Ser) c.*1398G>A (n.*1398G>A) c.942G>A | |
| 15 | g.48448805A>C | CA490023143 | FBN1 | c.5634T>G (p.Thr1878=) n.4308T>G c.633T>G (p.Thr211=) c.*1397T>G (n.*1397T>G) c.941T>G | |
| 15 | g.48448805A>G | CA490023145 | FBN1 | c.5634T>C (p.Thr1878=) n.4308T>C c.633T>C (p.Thr211=) c.*1397T>C (n.*1397T>C) c.941T>C | |
| 15 | g.48448805A>T | CA490023147 | FBN1 | c.5634T>A (p.Thr1878=) n.4308T>A c.633T>A (p.Thr211=) c.*1397T>A (n.*1397T>A) c.941T>A | |
| 15 | g.48448806G>A | CA392341833 | FBN1 | c.5633C>T (p.Thr1878Ile) n.4307C>T c.632C>T (p.Thr211Ile) c.*1396C>T (n.*1396C>T) c.940C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.48448806G>C | CA392341834 | FBN1 | c.5633C>G (p.Thr1878Ser) n.4307C>G c.632C>G (p.Thr211Ser) c.*1396C>G (n.*1396C>G) c.940C>G | gnomAD v4 |
| 15 | g.48448806G= | CA2175498295 | FBN1 | c.5633C= (p.Thr1878=) n.4307C= c.632C= (p.Thr211=) c.*1396C= (n.*1396C=) c.940C= | |
| 15 | g.48448806G>T | CA392341836 | FBN1 | c.5633C>A (p.Thr1878Asn) n.4307C>A c.632C>A (p.Thr211Asn) c.*1396C>A (n.*1396C>A) c.940C>A | |
| 15 | g.48448807T>A | CA392341838 | FBN1 | c.5632A>T (p.Thr1878Ser) n.4306A>T c.631A>T (p.Thr211Ser) c.*1395A>T (n.*1395A>T) c.939A>T | |
| 15 | g.48448807T>C | CA392341839 | FBN1 | c.5632A>G (p.Thr1878Ala) n.4306A>G c.631A>G (p.Thr211Ala) c.*1395A>G (n.*1395A>G) c.939A>G | |
| 15 | g.48448807T>G | CA392341842 | FBN1 | c.5632A>C (p.Thr1878Pro) n.4306A>C c.631A>C (p.Thr211Pro) c.*1395A>C (n.*1395A>C) c.939A>C | |
| 15 | g.48448808G>A | CA490023155 | FBN1 | c.5631C>T (p.His1877=) n.4305C>T c.630C>T (p.His210=) c.*1394C>T (n.*1394C>T) c.938C>T | |
| 15 | g.48448808G>C | CA392341844 | FBN1 | c.5631C>G (p.His1877Gln) n.4305C>G c.630C>G (p.His210Gln) c.*1394C>G (n.*1394C>G) c.938C>G | |
| 15 | g.48448808G>T | CA392341845 | FBN1 | c.5631C>A (p.His1877Gln) n.4305C>A c.630C>A (p.His210Gln) c.*1394C>A (n.*1394C>A) c.938C>A | |
| 15 | g.48448809T>A | CA392341850 | FBN1 | c.5630A>T (p.His1877Leu) n.4304A>T c.629A>T (p.His210Leu) c.*1393A>T (n.*1393A>T) c.937A>T | |
| 15 | g.48448809T>C | CA055309 | FBN1 | c.5630A>G (p.His1877Arg) n.4304A>G c.629A>G (p.His210Arg) c.*1393A>G (n.*1393A>G) c.937A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48448809T>G | CA392341848 | FBN1 | c.5630A>C (p.His1877Pro) n.4304A>C c.629A>C (p.His210Pro) c.*1393A>C (n.*1393A>C) c.937A>C | |
| 15 | g.48448809T= | CA2175498298 | FBN1 | c.5630A= (p.His1877=) n.4304A= c.629A= (p.His210=) c.*1393A= (n.*1393A=) c.937A= | |
| 15 | g.48448810G>A | CA055301 | FBN1 | c.5629C>T (p.His1877Tyr) n.4303C>T c.628C>T (p.His210Tyr) c.*1392C>T (n.*1392C>T) c.936C>T | dbSNP ExAC |
| 15 | g.48448810G>C | CA392341851 | FBN1 | c.5629C>G (p.His1877Asp) n.4303C>G c.628C>G (p.His210Asp) c.*1392C>G (n.*1392C>G) c.936C>G | |
| 15 | g.48448810G= | CA2175498308 | FBN1 | c.5629C= (p.His1877=) n.4303C= c.628C= (p.His210=) c.*1392C= (n.*1392C=) c.936C= | |
| 15 | g.48448810G>T | CA392341854 | FBN1 | c.5629C>A (p.His1877Asn) n.4303C>A c.628C>A (p.His210Asn) c.*1392C>A (n.*1392C>A) c.936C>A | |
| 15 | g.48448811G>A | CA490023162 | FBN1 | c.5628C>T (p.Cys1876=) n.4302C>T c.627C>T (p.Cys209=) c.*1391C>T (n.*1391C>T) c.935C>T | |
| 15 | g.48448811G>C | CA392341857 | FBN1 | c.5628C>G (p.Cys1876Trp) n.4302C>G c.627C>G (p.Cys209Trp) c.*1391C>G (n.*1391C>G) c.935C>G | ClinVar dbSNP |
| 15 | g.48448811G>T | CA392341861 | FBN1 | c.5628C>A (p.Cys1876Ter) n.4302C>A c.627C>A (p.Cys209Ter) c.*1391C>A (n.*1391C>A) c.935C>A | ClinVar |
| 15 | g.48448812del | CA2628347966 | FBN1 | c.5627del (p.Cys1876SerfsTer17) n.4301del c.626del (p.Cys209SerfsTer17) c.*1390del (n.*1390del) c.934del | gnomAD v4 |
| 15 | g.48448812C>A | CA392341873 | FBN1 | c.5627G>T (p.Cys1876Phe) n.4301G>T c.626G>T (p.Cys209Phe) c.*1390G>T (n.*1390G>T) c.934G>T | |
| 15 | g.48448812C= | CA2175498320 | FBN1 | c.5627G= (p.Cys1876=) n.4301G= c.626G= (p.Cys209=) c.*1390G= (n.*1390G=) c.934G= | |
| 15 | g.48448812C>G | CA392341871 | FBN1 | c.5627G>C (p.Cys1876Ser) n.4301G>C c.626G>C (p.Cys209Ser) c.*1390G>C (n.*1390G>C) c.934G>C | ClinVar dbSNP |
| 15 | g.48448812C>T | CA16614640 | FBN1 | c.5627G>A (p.Cys1876Tyr) n.4301G>A c.626G>A (p.Cys209Tyr) c.*1390G>A (n.*1390G>A) c.934G>A | ClinVar dbSNP |
| 15 | g.48448813A= | CA2175498330 | FBN1 | c.5626T= (p.Cys1876=) n.4300T= c.625T= (p.Cys209=) c.*1389T= (n.*1389T=) c.933T= | |
| 15 | g.48448813A>C | CA392341875 | FBN1 | c.5626T>G (p.Cys1876Gly) n.4300T>G c.625T>G (p.Cys209Gly) c.*1389T>G (n.*1389T>G) c.933T>G | |
| 15 | g.48448813A>G | CA392341877 | FBN1 | c.5626T>C (p.Cys1876Arg) n.4300T>C c.625T>C (p.Cys209Arg) c.*1389T>C (n.*1389T>C) c.933T>C | ClinVar dbSNP |
| 15 | g.48448813A>T | CA392341879 | FBN1 | c.5626T>A (p.Cys1876Ser) n.4300T>A c.625T>A (p.Cys209Ser) c.*1389T>A (n.*1389T>A) c.933T>A | |
| 15 | g.48448814A>C | CA490023170 | FBN1 | c.5625T>G (p.Leu1875=) n.4299T>G c.624T>G (p.Leu208=) c.*1388T>G (n.*1388T>G) c.932T>G | |
| 15 | g.48448814A>G | CA490023172 | FBN1 | c.5625T>C (p.Leu1875=) n.4299T>C c.624T>C (p.Leu208=) c.*1388T>C (n.*1388T>C) c.932T>C | |
| 15 | g.48448814A>T | CA490023174 | FBN1 | c.5625T>A (p.Leu1875=) n.4299T>A c.624T>A (p.Leu208=) c.*1388T>A (n.*1388T>A) c.932T>A | |
| 15 | g.48448815A>C | CA392341882 | FBN1 | c.5624T>G (p.Leu1875Arg) n.4298T>G c.623T>G (p.Leu208Arg) c.*1387T>G (n.*1387T>G) c.931T>G | |
| 15 | g.48448815A>G | CA392341884 | FBN1 | c.5624T>C (p.Leu1875Pro) n.4298T>C c.623T>C (p.Leu208Pro) c.*1387T>C (n.*1387T>C) c.931T>C | |
| 15 | g.48448815A>T | CA392341886 | FBN1 | c.5624T>A (p.Leu1875His) n.4298T>A c.623T>A (p.Leu208His) c.*1387T>A (n.*1387T>A) c.931T>A | dbSNP |
| 15 | g.48448816G>A | CA269535012 | FBN1 | c.5623C>T (p.Leu1875Phe) n.4297C>T c.622C>T (p.Leu208Phe) c.*1386C>T (n.*1386C>T) c.930C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448816G>C | CA392341892 | FBN1 | c.5623C>G (p.Leu1875Val) n.4297C>G c.622C>G (p.Leu208Val) c.*1386C>G (n.*1386C>G) c.930C>G | |
| 15 | g.48448816G= | CA2175498334 | FBN1 | c.5623C= (p.Leu1875=) n.4297C= c.622C= (p.Leu208=) c.*1386C= (n.*1386C=) c.930C= | |
| 15 | g.48448816G>T | CA392341890 | FBN1 | c.5623C>A (p.Leu1875Ile) n.4297C>A c.622C>A (p.Leu208Ile) c.*1386C>A (n.*1386C>A) c.930C>A | |
| 15 | g.48448817G>A | CA490023181 | FBN1 | c.5622C>T (p.Cys1874=) n.4296C>T c.621C>T (p.Cys207=) c.*1385C>T (n.*1385C>T) c.929C>T | |
| 15 | g.48448817G>C | CA392341894 | FBN1 | c.5622C>G (p.Cys1874Trp) n.4296C>G c.621C>G (p.Cys207Trp) c.*1385C>G (n.*1385C>G) c.929C>G | |
| 15 | g.48448817G>T | CA392341896 | FBN1 | c.5622C>A (p.Cys1874Ter) n.4296C>A c.621C>A (p.Cys207Ter) c.*1385C>A (n.*1385C>A) c.929C>A | |
| 15 | g.48448818C>A | CA392341898 | FBN1 | c.5621G>T (p.Cys1874Phe) n.4295G>T c.620G>T (p.Cys207Phe) c.*1384G>T (n.*1384G>T) c.928G>T | ClinVar dbSNP |
| 15 | g.48448818C>G | CA392341899 | FBN1 | c.5621G>C (p.Cys1874Ser) n.4295G>C c.620G>C (p.Cys207Ser) c.*1384G>C (n.*1384G>C) c.928G>C | |
| 15 | g.48448818C>T | CA392341900 | FBN1 | c.5621G>A (p.Cys1874Tyr) n.4295G>A c.620G>A (p.Cys207Tyr) c.*1384G>A (n.*1384G>A) c.928G>A | |
| 15 | g.48448819A>C | CA392341901 | FBN1 | c.5620T>G (p.Cys1874Gly) n.4294T>G c.619T>G (p.Cys207Gly) c.*1383T>G (n.*1383T>G) c.927T>G | |
| 15 | g.48448819A>G | CA392341903 | FBN1 | c.5620T>C (p.Cys1874Arg) n.4294T>C c.619T>C (p.Cys207Arg) c.*1383T>C (n.*1383T>C) c.927T>C | ClinVar |
| 15 | g.48448819A>T | CA392341905 | FBN1 | c.5620T>A (p.Cys1874Ser) n.4294T>A c.619T>A (p.Cys207Ser) c.*1383T>A (n.*1383T>A) c.927T>A | |
| 15 | g.48448820A= | CA2175498338 | FBN1 | c.5619T= (p.Tyr1873=) n.4293T= c.618T= (p.Tyr206=) c.*1382T= (n.*1382T=) c.926T= | |
| 15 | g.48448820A>C | CA10587815 | FBN1 | c.5619T>G (p.Tyr1873Ter) n.4293T>G c.618T>G (p.Tyr206Ter) c.*1382T>G (n.*1382T>G) c.926T>G | ClinVar dbSNP |
| 15 | g.48448820A>G | CA490023189 | FBN1 | c.5619T>C (p.Tyr1873=) n.4293T>C c.618T>C (p.Tyr206=) c.*1382T>C (n.*1382T>C) c.926T>C | ClinVar |
| 15 | g.48448820A>T | CA392341909 | FBN1 | c.5619T>A (p.Tyr1873Ter) n.4293T>A c.618T>A (p.Tyr206Ter) c.*1382T>A (n.*1382T>A) c.926T>A | |
| 15 | g.48448821T>A | CA392341923 | FBN1 | c.5618A>T (p.Tyr1873Phe) n.4292A>T c.617A>T (p.Tyr206Phe) c.*1381A>T (n.*1381A>T) c.925A>T | |
| 15 | g.48448821T>C | CA392341930 | FBN1 | c.5618A>G (p.Tyr1873Cys) n.4292A>G c.617A>G (p.Tyr206Cys) c.*1381A>G (n.*1381A>G) c.925A>G | |
| 15 | g.48448821T>G | CA392341926 | FBN1 | c.5618A>C (p.Tyr1873Ser) n.4292A>C c.617A>C (p.Tyr206Ser) c.*1381A>C (n.*1381A>C) c.925A>C | |
| 15 | g.48448822A>C | CA392341935 | FBN1 | c.5617T>G (p.Tyr1873Asp) n.4291T>G c.616T>G (p.Tyr206Asp) c.*1380T>G (n.*1380T>G) c.924T>G | |
| 15 | g.48448822A>G | CA392341937 | FBN1 | c.5617T>C (p.Tyr1873His) n.4291T>C c.616T>C (p.Tyr206His) c.*1380T>C (n.*1380T>C) c.924T>C | COSMIC |
| 15 | g.48448822A>T | CA392341940 | FBN1 | c.5617T>A (p.Tyr1873Asn) n.4291T>A c.616T>A (p.Tyr206Asn) c.*1380T>A (n.*1380T>A) c.924T>A | |
| 15 | g.48448823A= | CA2175498343 | FBN1 | c.5616T= (p.Phe1872=) n.4290T= c.615T= (p.Phe205=) c.*1379T= (n.*1379T=) c.923T= | |
| 15 | g.48448823A>C | CA392341944 | FBN1 | c.5616T>G (p.Phe1872Leu) n.4290T>G c.615T>G (p.Phe205Leu) c.*1379T>G (n.*1379T>G) c.923T>G | |
| 15 | g.48448823A>G | CA490023200 | FBN1 | c.5616T>C (p.Phe1872=) n.4290T>C c.615T>C (p.Phe205=) c.*1379T>C (n.*1379T>C) c.923T>C | ClinVar dbSNP |
| 15 | g.48448823A>T | CA392341946 | FBN1 | c.5616T>A (p.Phe1872Leu) n.4290T>A c.615T>A (p.Phe205Leu) c.*1379T>A (n.*1379T>A) c.923T>A | |
| 15 | g.48448824A>C | CA392341950 | FBN1 | c.5615T>G (p.Phe1872Cys) n.4289T>G c.614T>G (p.Phe205Cys) c.*1378T>G (n.*1378T>G) c.922T>G | |
| 15 | g.48448824A>G | CA392341953 | FBN1 | c.5615T>C (p.Phe1872Ser) n.4289T>C c.614T>C (p.Phe205Ser) c.*1378T>C (n.*1378T>C) c.922T>C | ClinVar |
| 15 | g.48448824A>T | CA392341959 | FBN1 | c.5615T>A (p.Phe1872Tyr) n.4289T>A c.614T>A (p.Phe205Tyr) c.*1378T>A (n.*1378T>A) c.922T>A | |
| 15 | g.48448825A>C | CA392341964 | FBN1 | c.5614T>G (p.Phe1872Val) n.4288T>G c.613T>G (p.Phe205Val) c.*1377T>G (n.*1377T>G) c.921T>G | |
| 15 | g.48448825A>G | CA392341968 | FBN1 | c.5614T>C (p.Phe1872Leu) n.4288T>C c.613T>C (p.Phe205Leu) c.*1377T>C (n.*1377T>C) c.921T>C | |
| 15 | g.48448825A>T | CA392341966 | FBN1 | c.5614T>A (p.Phe1872Ile) n.4288T>A c.613T>A (p.Phe205Ile) c.*1377T>A (n.*1377T>A) c.921T>A | |
| 15 | g.48448825_48448826delinsAG | CA2175498348 | FBN1 | c.5613_5614delinsCT (p.Ser1871=) n.4287_4288delinsCT c.612_613delinsCT (p.Ser204=) c.*1376_*1377delinsCT (n.*1376_*1377delinsCT) c.920_921delinsCT | |
| 15 | g.48448825_48448827delinsAGC | CA2175498349 | FBN1 | c.5612_5614delinsGCT (p.Ser1871=) n.4286_4288delinsGCT c.611_613delinsGCT (p.Ser204=) c.*1375_*1377delinsGCT (n.*1375_*1377delinsGCT) c.919_921delinsGCT | |
| 15 | g.48448826del | CA891844491 | FBN1 | c.5613del (p.Tyr1873IlefsTer20) n.4287del c.612del (p.Tyr206IlefsTer20) c.*1376del (n.*1376del) c.920del | ClinVar dbSNP |
| 15 | g.48448826G>A | CA490023208 | FBN1 | c.5613C>T (p.Ser1871=) n.4287C>T c.612C>T (p.Ser204=) c.*1376C>T (n.*1376C>T) c.920C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448826G>C | CA392341970 | FBN1 | c.5613C>G (p.Ser1871Arg) n.4287C>G c.612C>G (p.Ser204Arg) c.*1376C>G (n.*1376C>G) c.920C>G | |
| 15 | g.48448826G= | CA2175498367 | FBN1 | c.5613C= (p.Ser1871=) n.4287C= c.612C= (p.Ser204=) c.*1376C= (n.*1376C=) c.920C= | |
| 15 | g.48448826G>T | CA055296 | FBN1 | c.5613C>A (p.Ser1871Arg) n.4287C>A c.612C>A (p.Ser204Arg) c.*1376C>A (n.*1376C>A) c.920C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448826_48448827del | CA658824299 | FBN1 | c.5612_5613del (p.Ser1871IlefsTer10) n.4286_4287del c.611_612del (p.Ser204IlefsTer10) c.*1375_*1376del (n.*1375_*1376del) c.919_920del | ClinVar dbSNP |
| 15 | g.48448827C>A | CA392341977 | FBN1 | c.5612G>T (p.Ser1871Ile) n.4286G>T c.611G>T (p.Ser204Ile) c.*1375G>T (n.*1375G>T) c.919G>T | |
| 15 | g.48448827C= | CA2175498371 | FBN1 | c.5612G= (p.Ser1871=) n.4286G= c.611G= (p.Ser204=) c.*1375G= (n.*1375G=) c.919G= | |
| 15 | g.48448827C>G | CA392341980 | FBN1 | c.5612G>C (p.Ser1871Thr) n.4286G>C c.611G>C (p.Ser204Thr) c.*1375G>C (n.*1375G>C) c.919G>C | |
| 15 | g.48448827C>T | CA055291 | FBN1 | c.5612G>A (p.Ser1871Asn) n.4286G>A c.611G>A (p.Ser204Asn) c.*1375G>A (n.*1375G>A) c.919G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48448828T>A | CA392341987 | FBN1 | c.5611A>T (p.Ser1871Cys) n.4285A>T c.610A>T (p.Ser204Cys) c.*1374A>T (n.*1374A>T) c.918A>T | |
| 15 | g.48448828T>C | CA392341992 | FBN1 | c.5611A>G (p.Ser1871Gly) n.4285A>G c.610A>G (p.Ser204Gly) c.*1374A>G (n.*1374A>G) c.918A>G | |
| 15 | g.48448828T>G | CA392341989 | FBN1 | c.5611A>C (p.Ser1871Arg) n.4285A>C c.610A>C (p.Ser204Arg) c.*1374A>C (n.*1374A>C) c.918A>C | ClinVar dbSNP |
| 15 | g.48448829T>A | CA490023217 | FBN1 | c.5610A>T (p.Gly1870=) n.4284A>T c.609A>T (p.Gly203=) c.*1373A>T (n.*1373A>T) c.917A>T | |
| 15 | g.48448829T>C | CA490023220 | FBN1 | c.5610A>G (p.Gly1870=) n.4284A>G c.609A>G (p.Gly203=) c.*1373A>G (n.*1373A>G) c.917A>G | |
| 15 | g.48448829T>G | CA490023219 | FBN1 | c.5610A>C (p.Gly1870=) n.4284A>C c.609A>C (p.Gly203=) c.*1373A>C (n.*1373A>C) c.917A>C | |
| 15 | g.48448830C>A | CA392341995 | FBN1 | c.5609G>T (p.Gly1870Val) n.4283G>T c.608G>T (p.Gly203Val) c.*1372G>T (n.*1372G>T) c.916G>T | |
| 15 | g.48448830C>G | CA392341996 | FBN1 | c.5609G>C (p.Gly1870Ala) n.4283G>C c.608G>C (p.Gly203Ala) c.*1372G>C (n.*1372G>C) c.916G>C | |
| 15 | g.48448830C>T | CA392342000 | FBN1 | c.5609G>A (p.Gly1870Glu) n.4283G>A c.608G>A (p.Gly203Glu) c.*1372G>A (n.*1372G>A) c.916G>A | COSMIC |
| 15 | g.48448831C>A | CA392342005 | FBN1 | c.5608G>T (p.Gly1870Ter) n.4282G>T c.607G>T (p.Gly203Ter) c.*1371G>T (n.*1371G>T) c.915G>T | |
| 15 | g.48448831C>G | CA392342008 | FBN1 | c.5608G>C (p.Gly1870Arg) n.4282G>C c.607G>C (p.Gly203Arg) c.*1371G>C (n.*1371G>C) c.915G>C | |
| 15 | g.48448831C>T | CA392342010 | FBN1 | c.5608G>A (p.Gly1870Arg) n.4282G>A c.607G>A (p.Gly203Arg) c.*1371G>A (n.*1371G>A) c.915G>A | |
| 15 | g.48448832A= | CA2175498375 | FBN1 | c.5607T= (p.Val1869=) n.4281T= c.606T= (p.Val202=) c.*1370T= (n.*1370T=) c.914T= | |
| 15 | g.48448832A>C | CA490023228 | FBN1 | c.5607T>G (p.Val1869=) n.4281T>G c.606T>G (p.Val202=) c.*1370T>G (n.*1370T>G) c.914T>G | |
| 15 | g.48448832A>G | CA490023229 | FBN1 | c.5607T>C (p.Val1869=) n.4281T>C c.606T>C (p.Val202=) c.*1370T>C (n.*1370T>C) c.914T>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.48448832A>T | CA490023230 | FBN1 | c.5607T>A (p.Val1869=) n.4281T>A c.606T>A (p.Val202=) c.*1370T>A (n.*1370T>A) c.914T>A | |
| 15 | g.48448833dup | CA2580089552 | FBN1 | c.5607dup (p.Gly1870TrpfsTer12) n.4281dup c.606dup (p.Gly203TrpfsTer12) c.*1370dup (n.*1370dup) c.914dup | ClinVar |
| 15 | g.48448833A>C | CA392342013 | FBN1 | c.5606T>G (p.Val1869Gly) n.4280T>G c.605T>G (p.Val202Gly) c.*1369T>G (n.*1369T>G) c.913T>G | |
| 15 | g.48448833A>G | CA392342015 | FBN1 | c.5606T>C (p.Val1869Ala) n.4280T>C c.605T>C (p.Val202Ala) c.*1369T>C (n.*1369T>C) c.913T>C | |
| 15 | g.48448833A>T | CA392342019 | FBN1 | c.5606T>A (p.Val1869Asp) n.4280T>A c.605T>A (p.Val202Asp) c.*1369T>A (n.*1369T>A) c.913T>A | |
| 15 | g.48448834C>A | CA392342021 | FBN1 | c.5605G>T (p.Val1869Phe) n.4279G>T c.604G>T (p.Val202Phe) c.*1368G>T (n.*1368G>T) c.912G>T | COSMIC |
| 15 | g.48448834C>G | CA392342023 | FBN1 | c.5605G>C (p.Val1869Leu) n.4279G>C c.604G>C (p.Val202Leu) c.*1368G>C (n.*1368G>C) c.912G>C | |
| 15 | g.48448834C>T | CA392342030 | FBN1 | c.5605G>A (p.Val1869Ile) n.4279G>A c.604G>A (p.Val202Ile) c.*1368G>A (n.*1368G>A) c.912G>A | |
| 15 | g.48448835T>A | CA490023238 | FBN1 | c.5604A>T (p.Thr1868=) n.4278A>T c.603A>T (p.Thr201=) c.*1367A>T (n.*1367A>T) c.911A>T | |
| 15 | g.48448835T>C | CA490023239 | FBN1 | c.5604A>G (p.Thr1868=) n.4278A>G c.603A>G (p.Thr201=) c.*1367A>G (n.*1367A>G) c.911A>G | ClinVar |
| 15 | g.48448835T>G | CA490023242 | FBN1 | c.5604A>C (p.Thr1868=) n.4278A>C c.603A>C (p.Thr201=) c.*1367A>C (n.*1367A>C) c.911A>C | gnomAD v4 |
| 15 | g.48448836G>A | CA055286 | FBN1 | c.5603C>T (p.Thr1868Ile) n.4277C>T c.602C>T (p.Thr201Ile) c.*1366C>T (n.*1366C>T) c.910C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448836G>C | CA269535028 | FBN1 | c.5603C>G (p.Thr1868Arg) n.4277C>G c.602C>G (p.Thr201Arg) c.*1366C>G (n.*1366C>G) c.910C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48448836G= | CA2175498384 | FBN1 | c.5603C= (p.Thr1868=) n.4277C= c.602C= (p.Thr201=) c.*1366C= (n.*1366C=) c.910C= | |
| 15 | g.48448836G>T | CA392342034 | FBN1 | c.5603C>A (p.Thr1868Lys) n.4277C>A c.602C>A (p.Thr201Lys) c.*1366C>A (n.*1366C>A) c.910C>A | COSMIC |
| 15 | g.48448837T>A | CA392342039 | FBN1 | c.5602A>T (p.Thr1868Ser) n.4276A>T c.601A>T (p.Thr201Ser) c.*1365A>T (n.*1365A>T) c.909A>T | |
| 15 | g.48448837T>C | CA392342041 | FBN1 | c.5602A>G (p.Thr1868Ala) n.4276A>G c.601A>G (p.Thr201Ala) c.*1365A>G (n.*1365A>G) c.909A>G | gnomAD v4 |
| 15 | g.48448837T>G | CA392342044 | FBN1 | c.5602A>C (p.Thr1868Pro) n.4276A>C c.601A>C (p.Thr201Pro) c.*1365A>C (n.*1365A>C) c.909A>C | |
| 15 | g.48448838G>A | CA490023248 | FBN1 | c.5601C>T (p.Asp1867=) n.4275C>T c.600C>T (p.Asp200=) c.*1364C>T (n.*1364C>T) c.908C>T | |
| 15 | g.48448838G>C | CA392342047 | FBN1 | c.5601C>G (p.Asp1867Glu) n.4275C>G c.600C>G (p.Asp200Glu) c.*1364C>G (n.*1364C>G) c.908C>G | |
| 15 | g.48448838G>T | CA392342050 | FBN1 | c.5601C>A (p.Asp1867Glu) n.4275C>A c.600C>A (p.Asp200Glu) c.*1364C>A (n.*1364C>A) c.908C>A | |
| 15 | g.48448839T>A | CA392342054 | FBN1 | c.5600A>T (p.Asp1867Val) n.4274A>T c.599A>T (p.Asp200Val) c.*1363A>T (n.*1363A>T) c.907A>T | |
| 15 | g.48448839T>C | CA392342056 | FBN1 | c.5600A>G (p.Asp1867Gly) n.4274A>G c.599A>G (p.Asp200Gly) c.*1363A>G (n.*1363A>G) c.907A>G | |
| 15 | g.48448839T>G | CA392342058 | FBN1 | c.5600A>C (p.Asp1867Ala) n.4274A>C c.599A>C (p.Asp200Ala) c.*1363A>C (n.*1363A>C) c.907A>C | |
| 15 | g.48448840C>A | CA392342061 | FBN1 | c.5599G>T (p.Asp1867Tyr) n.4273G>T c.598G>T (p.Asp200Tyr) c.*1362G>T (n.*1362G>T) c.906G>T | |
| 15 | g.48448840C>G | CA392342065 | FBN1 | c.5599G>C (p.Asp1867His) n.4273G>C c.598G>C (p.Asp200His) c.*1362G>C (n.*1362G>C) c.906G>C | |
| 15 | g.48448840C>T | CA392342063 | FBN1 | c.5599G>A (p.Asp1867Asn) n.4273G>A c.598G>A (p.Asp200Asn) c.*1362G>A (n.*1362G>A) c.906G>A | COSMIC |
| 15 | g.48448841A>C | CA392342069 | FBN1 | c.5598T>G (p.Ile1866Met) n.4272T>G c.597T>G (p.Ile199Met) c.*1361T>G (n.*1361T>G) c.905T>G | |
| 15 | g.48448841A>G | CA490023253 | FBN1 | c.5598T>C (p.Ile1866=) n.4272T>C c.597T>C (p.Ile199=) c.*1361T>C (n.*1361T>C) c.905T>C | |
| 15 | g.48448841A>T | CA490023254 | FBN1 | c.5598T>A (p.Ile1866=) n.4272T>A c.597T>A (p.Ile199=) c.*1361T>A (n.*1361T>A) c.905T>A | |
| 15 | g.48448842A= | CA2175498393 | FBN1 | c.5597T= (p.Ile1866=) n.4271T= c.596T= (p.Ile199=) c.*1360T= (n.*1360T=) c.904T= | |
| 15 | g.48448842A>C | CA392342071 | FBN1 | c.5597T>G (p.Ile1866Ser) n.4271T>G c.596T>G (p.Ile199Ser) c.*1360T>G (n.*1360T>G) c.904T>G | |
| 15 | g.48448842A>G | CA055276 | FBN1 | c.5597T>C (p.Ile1866Thr) n.4271T>C c.596T>C (p.Ile199Thr) c.*1360T>C (n.*1360T>C) c.904T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48448842A>T | CA392342075 | FBN1 | c.5597T>A (p.Ile1866Asn) n.4271T>A c.596T>A (p.Ile199Asn) c.*1360T>A (n.*1360T>A) c.904T>A | |
| 15 | g.48448843T>A | CA392342078 | FBN1 | c.5596A>T (p.Ile1866Phe) n.4270A>T c.595A>T (p.Ile199Phe) c.*1359A>T (n.*1359A>T) c.903A>T | |
| 15 | g.48448843T>C | CA055270 | FBN1 | c.5596A>G (p.Ile1866Val) n.4270A>G c.595A>G (p.Ile199Val) c.*1359A>G (n.*1359A>G) c.903A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448843T>G | CA392342081 | FBN1 | c.5596A>C (p.Ile1866Leu) n.4270A>C c.595A>C (p.Ile199Leu) c.*1359A>C (n.*1359A>C) c.903A>C | gnomAD v4 |
| 15 | g.48448843T= | CA2175498400 | FBN1 | c.5596A= (p.Ile1866=) n.4270A= c.595A= (p.Ile199=) c.*1359A= (n.*1359A=) c.903A= | |
| 15 | g.48448844G>A | CA490023260 | FBN1 | c.5595C>T (p.Cys1865=) n.4269C>T c.594C>T (p.Cys198=) c.*1358C>T (n.*1358C>T) c.902C>T | |
| 15 | g.48448844G>C | CA392342082 | FBN1 | c.5595C>G (p.Cys1865Trp) n.4269C>G c.594C>G (p.Cys198Trp) c.*1358C>G (n.*1358C>G) c.902C>G | |
| 15 | g.48448844G= | CA2175498410 | FBN1 | c.5595C= (p.Cys1865=) n.4269C= c.594C= (p.Cys198=) c.*1358C= (n.*1358C=) c.902C= | |
| 15 | g.48448844G>T | CA16607089 | FBN1 | c.5595C>A (p.Cys1865Ter) n.4269C>A c.594C>A (p.Cys198Ter) c.*1358C>A (n.*1358C>A) c.902C>A | ClinVar dbSNP |
| 15 | g.48448845C>A | CA392342085 | FBN1 | c.5594G>T (p.Cys1865Phe) n.4268G>T c.593G>T (p.Cys198Phe) c.*1357G>T (n.*1357G>T) c.901G>T | |
| 15 | g.48448845C>G | CA392342088 | FBN1 | c.5594G>C (p.Cys1865Ser) n.4268G>C c.593G>C (p.Cys198Ser) c.*1357G>C (n.*1357G>C) c.901G>C | ClinVar dbSNP |
| 15 | g.48448845C>T | CA392342092 | FBN1 | c.5594G>A (p.Cys1865Tyr) n.4268G>A c.593G>A (p.Cys198Tyr) c.*1357G>A (n.*1357G>A) c.901G>A | |
| 15 | g.48448846_48448847dup | CA10605850 | FBN1 | c.5593_5594dup (p.Ile1866AlafsTer28) n.4267_4268dup c.592_593dup (p.Ile199AlafsTer28) c.*1356_*1357dup (n.*1356_*1357dup) c.900_901dup | ClinVar dbSNP |
| 15 | g.48448846A= | CA2175498434 | FBN1 | c.5593T= (p.Cys1865=) n.4267T= c.592T= (p.Cys198=) c.*1356T= (n.*1356T=) c.900T= | |
| 15 | g.48448846A>C | CA392342105 | FBN1 | c.5593T>G (p.Cys1865Gly) n.4267T>G c.592T>G (p.Cys198Gly) c.*1356T>G (n.*1356T>G) c.900T>G | |
| 15 | g.48448846A>G | CA392342113 | FBN1 | c.5593T>C (p.Cys1865Arg) n.4267T>C c.592T>C (p.Cys198Arg) c.*1356T>C (n.*1356T>C) c.900T>C | ClinVar dbSNP |
| 15 | g.48448846A>T | CA392342115 | FBN1 | c.5593T>A (p.Cys1865Ser) n.4267T>A c.592T>A (p.Cys198Ser) c.*1356T>A (n.*1356T>A) c.900T>A | |
| 15 | g.48448847del | CA2573332581 | FBN1 | c.5592del (p.Gln1864HisfsTer29) n.4266del c.591del (p.Gln197HisfsTer29) c.*1355del (n.*1355del) c.899del | |
| 15 | g.48448847C>A | CA392342120 | FBN1 | c.5592G>T (p.Gln1864His) n.4266G>T c.591G>T (p.Gln197His) c.*1355G>T (n.*1355G>T) c.899G>T | |
| 15 | g.48448847C>G | CA392342122 | FBN1 | c.5592G>C (p.Gln1864His) n.4266G>C c.591G>C (p.Gln197His) c.*1355G>C (n.*1355G>C) c.899G>C | |
| 15 | g.48448847C>T | CA490023268 | FBN1 | c.5592G>A (p.Gln1864=) n.4266G>A c.591G>A (p.Gln197=) c.*1355G>A (n.*1355G>A) c.899G>A | |
| 15 | g.48448848T>A | CA392342125 | FBN1 | c.5591A>T (p.Gln1864Leu) n.4265A>T c.590A>T (p.Gln197Leu) c.*1354A>T (n.*1354A>T) c.898A>T | |
| 15 | g.48448848T>C | CA392342132 | FBN1 | c.5591A>G (p.Gln1864Arg) n.4265A>G c.590A>G (p.Gln197Arg) c.*1354A>G (n.*1354A>G) c.898A>G | |
| 15 | g.48448848T>G | CA392342128 | FBN1 | c.5591A>C (p.Gln1864Pro) n.4265A>C c.590A>C (p.Gln197Pro) c.*1354A>C (n.*1354A>C) c.898A>C | |
| 15 | g.48448849G>A | CA392342138 | FBN1 | c.5590C>T (p.Gln1864Ter) n.4264C>T c.589C>T (p.Gln197Ter) c.*1353C>T (n.*1353C>T) c.897C>T | ClinVar dbSNP |
| 15 | g.48448849G>C | CA392342140 | FBN1 | c.5590C>G (p.Gln1864Glu) n.4264C>G c.589C>G (p.Gln197Glu) c.*1353C>G (n.*1353C>G) c.897C>G | |
| 15 | g.48448849G= | CA2175498442 | FBN1 | c.5590C= (p.Gln1864=) n.4264C= c.589C= (p.Gln197=) c.*1353C= (n.*1353C=) c.897C= | |
| 15 | g.48448849G>T | CA392342145 | FBN1 | c.5590C>A (p.Gln1864Lys) n.4264C>A c.589C>A (p.Gln197Lys) c.*1353C>A (n.*1353C>A) c.897C>A | |
| 15 | g.48448850C>A | CA490023275 | FBN1 | c.5589G>T (p.Gly1863=) n.4263G>T c.588G>T (p.Gly196=) c.*1352G>T (n.*1352G>T) c.896G>T | ClinVar |
| 15 | g.48448850C= | CA2175498450 | FBN1 | c.5589G= (p.Gly1863=) n.4263G= c.588G= (p.Gly196=) c.*1352G= (n.*1352G=) c.896G= | |
| 15 | g.48448850C>G | CA490023276 | FBN1 | c.5589G>C (p.Gly1863=) n.4263G>C c.588G>C (p.Gly196=) c.*1352G>C (n.*1352G>C) c.896G>C | gnomAD v4 |
| 15 | g.48448850C>T | CA490023278 | FBN1 | c.5589G>A (p.Gly1863=) n.4263G>A c.588G>A (p.Gly196=) c.*1352G>A (n.*1352G>A) c.896G>A | ClinVar dbSNP |
| 15 | g.48448851C>A | CA392342148 | FBN1 | c.5588G>T (p.Gly1863Val) n.4262G>T c.587G>T (p.Gly196Val) c.*1351G>T (n.*1351G>T) c.895G>T | |
| 15 | g.48448851C= | CA2175498458 | FBN1 | c.5588G= (p.Gly1863=) n.4262G= c.587G= (p.Gly196=) c.*1351G= (n.*1351G=) c.895G= | |
| 15 | g.48448851C>G | CA392342152 | FBN1 | c.5588G>C (p.Gly1863Ala) n.4262G>C c.587G>C (p.Gly196Ala) c.*1351G>C (n.*1351G>C) c.895G>C | |
| 15 | g.48448851C>T | CA015911 | FBN1 | c.5588G>A (p.Gly1863Glu) n.4262G>A c.587G>A (p.Gly196Glu) c.*1351G>A (n.*1351G>A) c.895G>A | ClinVar dbSNP |
| 15 | g.48448852C>A | CA392342176 | FBN1 | c.5587G>T (p.Gly1863Trp) n.4261G>T c.586G>T (p.Gly196Trp) c.*1350G>T (n.*1350G>T) c.894G>T | |
| 15 | g.48448852C= | CA2175498467 | FBN1 | c.5587G= (p.Gly1863=) n.4261G= c.586G= (p.Gly196=) c.*1350G= (n.*1350G=) c.894G= | |
| 15 | g.48448852C>G | CA392342165 | FBN1 | c.5587G>C (p.Gly1863Arg) n.4261G>C c.586G>C (p.Gly196Arg) c.*1350G>C (n.*1350G>C) c.894G>C | |
| 15 | g.48448852C>T | CA392342167 | FBN1 | c.5587G>A (p.Gly1863Arg) n.4261G>A c.586G>A (p.Gly196Arg) c.*1350G>A (n.*1350G>A) c.894G>A | ClinVar dbSNP |
| 15 | g.48448853A>C | CA392342180 | FBN1 | c.5586T>G (p.His1862Gln) n.4260T>G c.585T>G (p.His195Gln) c.*1349T>G (n.*1349T>G) c.893T>G | |
| 15 | g.48448853A>G | CA490023287 | FBN1 | c.5586T>C (p.His1862=) n.4260T>C c.585T>C (p.His195=) c.*1349T>C (n.*1349T>C) c.893T>C | ClinVar |
| 15 | g.48448853A>T | CA392342182 | FBN1 | c.5586T>A (p.His1862Gln) n.4260T>A c.585T>A (p.His195Gln) c.*1349T>A (n.*1349T>A) c.893T>A | |
| 15 | g.48448854T>A | CA392342186 | FBN1 | c.5585A>T (p.His1862Leu) n.4259A>T c.584A>T (p.His195Leu) c.*1348A>T (n.*1348A>T) c.892A>T | |
| 15 | g.48448854T>C | CA269535035 | FBN1 | c.5585A>G (p.His1862Arg) n.4259A>G c.584A>G (p.His195Arg) c.*1348A>G (n.*1348A>G) c.892A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448854T>G | CA392342192 | FBN1 | c.5585A>C (p.His1862Pro) n.4259A>C c.584A>C (p.His195Pro) c.*1348A>C (n.*1348A>C) c.892A>C | |
| 15 | g.48448854T= | CA2175498473 | FBN1 | c.5585A= (p.His1862=) n.4259A= c.584A= (p.His195=) c.*1348A= (n.*1348A=) c.892A= | |
| 15 | g.48448855G>A | CA392342203 | FBN1 | c.5584C>T (p.His1862Tyr) n.4258C>T c.583C>T (p.His195Tyr) c.*1347C>T (n.*1347C>T) c.891C>T | gnomAD v4 |
| 15 | g.48448855G>C | CA392342199 | FBN1 | c.5584C>G (p.His1862Asp) n.4258C>G c.583C>G (p.His195Asp) c.*1347C>G (n.*1347C>G) c.891C>G | |
| 15 | g.48448855G>T | CA392342202 | FBN1 | c.5584C>A (p.His1862Asn) n.4258C>A c.583C>A (p.His195Asn) c.*1347C>A (n.*1347C>A) c.891C>A | gnomAD v4 |
| 15 | g.48448856A>C | CA392342211 | FBN1 | c.5583T>G (p.Ser1861Arg) n.4257T>G c.582T>G (p.Ser194Arg) c.*1346T>G (n.*1346T>G) c.890T>G | |
| 15 | g.48448856A>G | CA490023298 | FBN1 | c.5583T>C (p.Ser1861=) n.4257T>C c.582T>C (p.Ser194=) c.*1346T>C (n.*1346T>C) c.890T>C | |
| 15 | g.48448856A>T | CA392342215 | FBN1 | c.5583T>A (p.Ser1861Arg) n.4257T>A c.582T>A (p.Ser194Arg) c.*1346T>A (n.*1346T>A) c.890T>A | gnomAD v4 |
| 15 | g.48448857C>A | CA392342219 | FBN1 | c.5582G>T (p.Ser1861Ile) n.4256G>T c.581G>T (p.Ser194Ile) c.*1345G>T (n.*1345G>T) c.889G>T | |
| 15 | g.48448857C= | CA2175498483 | FBN1 | c.5582G= (p.Ser1861=) n.4256G= c.581G= (p.Ser194=) c.*1345G= (n.*1345G=) c.889G= | |
| 15 | g.48448857C>G | CA392342224 | FBN1 | c.5582G>C (p.Ser1861Thr) n.4256G>C c.581G>C (p.Ser194Thr) c.*1345G>C (n.*1345G>C) c.889G>C | |
| 15 | g.48448857C>T | CA055263 | FBN1 | c.5582G>A (p.Ser1861Asn) n.4256G>A c.581G>A (p.Ser194Asn) c.*1345G>A (n.*1345G>A) c.889G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448857dup | CA2695220286 | FBN1 | c.5582dup (p.Ser1861ArgfsTer7) n.4256dup c.581dup (p.Ser194ArgfsTer7) c.*1345dup (n.*1345dup) c.889dup | |
| 15 | g.48448858T>A | CA392342232 | FBN1 | c.5581A>T (p.Ser1861Cys) n.4255A>T c.580A>T (p.Ser194Cys) c.*1344A>T (n.*1344A>T) c.888A>T | |
| 15 | g.48448858T>C | CA392342239 | FBN1 | c.5581A>G (p.Ser1861Gly) n.4255A>G c.580A>G (p.Ser194Gly) c.*1344A>G (n.*1344A>G) c.888A>G | gnomAD v4 |
| 15 | g.48448858T>G | CA392342244 | FBN1 | c.5581A>C (p.Ser1861Arg) n.4255A>C c.580A>C (p.Ser194Arg) c.*1344A>C (n.*1344A>C) c.888A>C | ClinVar dbSNP |
| 15 | g.48448858dup | CA2695220288 | FBN1 | c.5581dup (p.Ser1861LysfsTer7) n.4255dup c.580dup (p.Ser194LysfsTer7) c.*1344dup (n.*1344dup) c.888dup | |
| 15 | g.48448859G>A | CA490023309 | FBN1 | c.5580C>T (p.Cys1860=) n.4254C>T c.579C>T (p.Cys193=) c.*1343C>T (n.*1343C>T) c.887C>T | |
| 15 | g.48448859G>C | CA392342246 | FBN1 | c.5580C>G (p.Cys1860Trp) n.4254C>G c.579C>G (p.Cys193Trp) c.*1343C>G (n.*1343C>G) c.887C>G | |
| 15 | g.48448859G>T | CA392342250 | FBN1 | c.5580C>A (p.Cys1860Ter) n.4254C>A c.579C>A (p.Cys193Ter) c.*1343C>A (n.*1343C>A) c.887C>A | |
| 15 | g.48448860C>A | CA392342267 | FBN1 | c.5579G>T (p.Cys1860Phe) n.4253G>T c.578G>T (p.Cys193Phe) c.*1342G>T (n.*1342G>T) c.886G>T | gnomAD v4 |
| 15 | g.48448860C= | CA2175498492 | FBN1 | c.5579G= (p.Cys1860=) n.4253G= c.578G= (p.Cys193=) c.*1342G= (n.*1342G=) c.886G= | |
| 15 | g.48448860C>G | CA392342271 | FBN1 | c.5579G>C (p.Cys1860Ser) n.4253G>C c.578G>C (p.Cys193Ser) c.*1342G>C (n.*1342G>C) c.886G>C | |
| 15 | g.48448860C>T | CA392342277 | FBN1 | c.5579G>A (p.Cys1860Tyr) n.4253G>A c.578G>A (p.Cys193Tyr) c.*1342G>A (n.*1342G>A) c.886G>A | ClinVar dbSNP |
| 15 | g.48448861A>C | CA392342281 | FBN1 | c.5578T>G (p.Cys1860Gly) n.4252T>G c.577T>G (p.Cys193Gly) c.*1341T>G (n.*1341T>G) c.885T>G | |
| 15 | g.48448861A>G | CA392342288 | FBN1 | c.5578T>C (p.Cys1860Arg) n.4252T>C c.577T>C (p.Cys193Arg) c.*1341T>C (n.*1341T>C) c.885T>C | ClinVar |
| 15 | g.48448861A>T | CA392342284 | FBN1 | c.5578T>A (p.Cys1860Ser) n.4252T>A c.577T>A (p.Cys193Ser) c.*1341T>A (n.*1341T>A) c.885T>A | |
| 15 | g.48448862T>A | CA490023316 | FBN1 | c.5577A>T (p.Ile1859=) n.4251A>T c.576A>T (p.Ile192=) c.*1340A>T (n.*1340A>T) c.884A>T | |
| 15 | g.48448862T>C | CA392342294 | FBN1 | c.5577A>G (p.Ile1859Met) n.4251A>G c.576A>G (p.Ile192Met) c.*1340A>G (n.*1340A>G) c.884A>G | |
| 15 | g.48448862T>G | CA490023321 | FBN1 | c.5577A>C (p.Ile1859=) n.4251A>C c.576A>C (p.Ile192=) c.*1340A>C (n.*1340A>C) c.884A>C | |
| 15 | g.48448862dup | CA2580089560 | FBN1 | c.5577dup (p.Cys1860MetfsTer8) n.4251dup c.576dup (p.Cys193MetfsTer8) c.*1340dup (n.*1340dup) c.884dup | ClinVar |
| 15 | g.48448863A>C | CA392342298 | FBN1 | c.5576T>G (p.Ile1859Arg) n.4250T>G c.575T>G (p.Ile192Arg) c.*1339T>G (n.*1339T>G) c.883T>G | |
| 15 | g.48448863A>G | CA392342302 | FBN1 | c.5576T>C (p.Ile1859Thr) n.4250T>C c.575T>C (p.Ile192Thr) c.*1339T>C (n.*1339T>C) c.883T>C | ClinVar |
| 15 | g.48448863A>T | CA392342321 | FBN1 | c.5576T>A (p.Ile1859Lys) n.4250T>A c.575T>A (p.Ile192Lys) c.*1339T>A (n.*1339T>A) c.883T>A | |
| 15 | g.48448864T>A | CA392342324 | FBN1 | c.5575A>T (p.Ile1859Leu) n.4249A>T c.574A>T (p.Ile192Leu) c.*1338A>T (n.*1338A>T) c.882A>T | COSMIC |
| 15 | g.48448864T>C | CA392342331 | FBN1 | c.5575A>G (p.Ile1859Val) n.4249A>G c.574A>G (p.Ile192Val) c.*1338A>G (n.*1338A>G) c.882A>G | ClinVar gnomAD v4 |
| 15 | g.48448864T>G | CA392342335 | FBN1 | c.5575A>C (p.Ile1859Leu) n.4249A>C c.574A>C (p.Ile192Leu) c.*1338A>C (n.*1338A>C) c.882A>C | |
| 15 | g.48448865A>C | CA392342342 | FBN1 | c.5574T>G (p.Asn1858Lys) n.4248T>G c.573T>G (p.Asn191Lys) c.*1337T>G (n.*1337T>G) c.881T>G | |
| 15 | g.48448865A>G | CA490023327 | FBN1 | c.5574T>C (p.Asn1858=) n.4248T>C c.573T>C (p.Asn191=) c.*1337T>C (n.*1337T>C) c.881T>C | |
| 15 | g.48448865A>T | CA392342344 | FBN1 | c.5574T>A (p.Asn1858Lys) n.4248T>A c.573T>A (p.Asn191Lys) c.*1337T>A (n.*1337T>A) c.881T>A | gnomAD v4 |
| 15 | g.48448866T>A | CA392342349 | FBN1 | c.5573A>T (p.Asn1858Ile) n.4247A>T c.572A>T (p.Asn191Ile) c.*1336A>T (n.*1336A>T) c.880A>T | |
| 15 | g.48448866T>C | CA055254 | FBN1 | c.5573A>G (p.Asn1858Ser) n.4247A>G c.572A>G (p.Asn191Ser) c.*1336A>G (n.*1336A>G) c.880A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48448866T>G | CA392342356 | FBN1 | c.5573A>C (p.Asn1858Thr) n.4247A>C c.572A>C (p.Asn191Thr) c.*1336A>C (n.*1336A>C) c.880A>C | ClinVar dbSNP |
| 15 | g.48448866T= | CA2175498503 | FBN1 | c.5573A= (p.Asn1858=) n.4247A= c.572A= (p.Asn191=) c.*1336A= (n.*1336A=) c.880A= | |
| 15 | g.48448867T>A | CA392342366 | FBN1 | c.5572A>T (p.Asn1858Tyr) n.4246A>T c.571A>T (p.Asn191Tyr) c.*1335A>T (n.*1335A>T) c.879A>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448867T>C | CA392342361 | FBN1 | c.5572A>G (p.Asn1858Asp) n.4246A>G c.571A>G (p.Asn191Asp) c.*1335A>G (n.*1335A>G) c.879A>G | |
| 15 | g.48448867T>G | CA392342363 | FBN1 | c.5572A>C (p.Asn1858His) n.4246A>C c.571A>C (p.Asn191His) c.*1335A>C (n.*1335A>C) c.879A>C | |
| 15 | g.48448867T= | CA2175498514 | FBN1 | c.5572A= (p.Asn1858=) n.4246A= c.571A= (p.Asn191=) c.*1335A= (n.*1335A=) c.879A= | |
| 15 | g.48448867_48448868delinsTG | CA2175498511 | FBN1 | c.5571_5572delinsCA (p.Pro1857=) n.4245_4246delinsCA c.570_571delinsCA (p.Pro190=) c.*1334_*1335delinsCA (n.*1334_*1335delinsCA) c.878_879delinsCA | |
| 15 | g.48448868G>A | CA490023333 | FBN1 | c.5571C>T (p.Pro1857=) n.4245C>T c.570C>T (p.Pro190=) c.*1334C>T (n.*1334C>T) c.878C>T | |
| 15 | g.48448868G>C | CA490023335 | FBN1 | c.5571C>G (p.Pro1857=) n.4245C>G c.570C>G (p.Pro190=) c.*1334C>G (n.*1334C>G) c.878C>G | gnomAD v4 |
| 15 | g.48448868G= | CA2175498524 | FBN1 | c.5571C= (p.Pro1857=) n.4245C= c.570C= (p.Pro190=) c.*1334C= (n.*1334C=) c.878C= | |
| 15 | g.48448868G>T | CA055252 | FBN1 | c.5571C>A (p.Pro1857=) n.4245C>A c.570C>A (p.Pro190=) c.*1334C>A (n.*1334C>A) c.878C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448871del | CA915945987 | FBN1 | c.5571del (p.Asn1858IlefsTer?) n.4245del c.570del (p.Asn191IlefsTer?) c.*1334del (n.*1334del) c.878del | ClinVar dbSNP |
| 15 | g.48448869G>A | CA392342376 | FBN1 | c.5570C>T (p.Pro1857Leu) n.4244C>T c.569C>T (p.Pro190Leu) c.*1333C>T (n.*1333C>T) c.877C>T | |
| 15 | g.48448869G>C | CA392342377 | FBN1 | c.5570C>G (p.Pro1857Arg) n.4244C>G c.569C>G (p.Pro190Arg) c.*1333C>G (n.*1333C>G) c.877C>G | |
| 15 | g.48448869G>T | CA392342378 | FBN1 | c.5570C>A (p.Pro1857His) n.4244C>A c.569C>A (p.Pro190His) c.*1333C>A (n.*1333C>A) c.877C>A | |
| 15 | g.48448870G>A | CA392342381 | FBN1 | c.5569C>T (p.Pro1857Ser) n.4243C>T c.568C>T (p.Pro190Ser) c.*1332C>T (n.*1332C>T) c.876C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.48448870G>C | CA392342383 | FBN1 | c.5569C>G (p.Pro1857Ala) n.4243C>G c.568C>G (p.Pro190Ala) c.*1332C>G (n.*1332C>G) c.876C>G | COSMIC |
| 15 | g.48448870G= | CA2175498534 | FBN1 | c.5569C= (p.Pro1857=) n.4243C= c.568C= (p.Pro190=) c.*1332C= (n.*1332C=) c.876C= | |
| 15 | g.48448870G>T | CA392342386 | FBN1 | c.5569C>A (p.Pro1857Thr) n.4243C>A c.568C>A (p.Pro190Thr) c.*1332C>A (n.*1332C>A) c.876C>A | |
| 15 | g.48448871G>A | CA490023350 | FBN1 | c.5568C>T (p.Ile1856=) n.4242C>T c.567C>T (p.Ile189=) c.*1331C>T (n.*1331C>T) c.875C>T | dbSNP |
| 15 | g.48448871G>C | CA392342389 | FBN1 | c.5568C>G (p.Ile1856Met) n.4242C>G c.567C>G (p.Ile189Met) c.*1331C>G (n.*1331C>G) c.875C>G | |
| 15 | g.48448871G>T | CA490023352 | FBN1 | c.5568C>A (p.Ile1856=) n.4242C>A c.567C>A (p.Ile189=) c.*1331C>A (n.*1331C>A) c.875C>A | |
| 15 | g.48448872A= | CA2175498537 | FBN1 | c.5567T= (p.Ile1856=) n.4241T= c.566T= (p.Ile189=) c.*1330T= (n.*1330T=) c.874T= | |
| 15 | g.48448872A>C | CA392342392 | FBN1 | c.5567T>G (p.Ile1856Ser) n.4241T>G c.566T>G (p.Ile189Ser) c.*1330T>G (n.*1330T>G) c.874T>G | |
| 15 | g.48448872A>G | CA392342395 | FBN1 | c.5567T>C (p.Ile1856Thr) n.4241T>C c.566T>C (p.Ile189Thr) c.*1330T>C (n.*1330T>C) c.874T>C | |
| 15 | g.48448872A>T | CA055247 | FBN1 | c.5567T>A (p.Ile1856Asn) n.4241T>A c.566T>A (p.Ile189Asn) c.*1330T>A (n.*1330T>A) c.874T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448873T>A | CA392342411 | FBN1 | c.5566A>T (p.Ile1856Phe) n.4240A>T c.565A>T (p.Ile189Phe) c.*1329A>T (n.*1329A>T) c.873A>T | |
| 15 | g.48448873T>C | CA392342417 | FBN1 | c.5566A>G (p.Ile1856Val) n.4240A>G c.565A>G (p.Ile189Val) c.*1329A>G (n.*1329A>G) c.873A>G | ClinVar dbSNP |
| 15 | g.48448873T>G | CA392342414 | FBN1 | c.5566A>C (p.Ile1856Leu) n.4240A>C c.565A>C (p.Ile189Leu) c.*1329A>C (n.*1329A>C) c.873A>C | |
| 15 | g.48448874T>A | CA392342423 | FBN1 | c.5565A>T (p.Glu1855Asp) n.4239A>T c.564A>T (p.Glu188Asp) c.*1328A>T (n.*1328A>T) c.872A>T | |
| 15 | g.48448874T>C | CA490023358 | FBN1 | c.5565A>G (p.Glu1855=) n.4239A>G c.564A>G (p.Glu188=) c.*1328A>G (n.*1328A>G) c.872A>G | |
| 15 | g.48448874T>G | CA392342450 | FBN1 | c.5565A>C (p.Glu1855Asp) n.4239A>C c.564A>C (p.Glu188Asp) c.*1328A>C (n.*1328A>C) c.872A>C | |
| 15 | g.48448875T>A | CA392342456 | FBN1 | c.5564A>T (p.Glu1855Val) n.4238A>T c.563A>T (p.Glu188Val) c.*1327A>T (n.*1327A>T) c.871A>T | |
| 15 | g.48448875T>C | CA392342461 | FBN1 | c.5564A>G (p.Glu1855Gly) n.4238A>G c.563A>G (p.Glu188Gly) c.*1327A>G (n.*1327A>G) c.871A>G | |
| 15 | g.48448875T>G | CA392342459 | FBN1 | c.5564A>C (p.Glu1855Ala) n.4238A>C c.563A>C (p.Glu188Ala) c.*1327A>C (n.*1327A>C) c.871A>C | |
| 15 | g.48448876C>A | CA392342467 | FBN1 | c.5563G>T (p.Glu1855Ter) n.4237G>T c.562G>T (p.Glu188Ter) c.*1326G>T (n.*1326G>T) c.870G>T | ClinVar COSMIC |
| 15 | g.48448876C>G | CA392342471 | FBN1 | c.5563G>C (p.Glu1855Gln) n.4237G>C c.562G>C (p.Glu188Gln) c.*1326G>C (n.*1326G>C) c.870G>C | |
| 15 | g.48448876C>T | CA392342476 | FBN1 | c.5563G>A (p.Glu1855Lys) n.4237G>A c.562G>A (p.Glu188Lys) c.*1326G>A (n.*1326G>A) c.870G>A | |
| 15 | g.48448877T>A | CA392342484 | FBN1 | c.5562A>T (p.Gln1854His) n.4236A>T c.561A>T (p.Gln187His) c.*1325A>T (n.*1325A>T) c.869A>T | |
| 15 | g.48448877T>C | CA055240 | FBN1 | c.5562A>G (p.Gln1854=) n.4236A>G c.561A>G (p.Gln187=) c.*1325A>G (n.*1325A>G) c.869A>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48448877T>G | CA392342490 | FBN1 | c.5562A>C (p.Gln1854His) n.4236A>C c.561A>C (p.Gln187His) c.*1325A>C (n.*1325A>C) c.869A>C | COSMIC |
| 15 | g.48448877T= | CA2175498539 | FBN1 | c.5562A= (p.Gln1854=) n.4236A= c.561A= (p.Gln187=) c.*1325A= (n.*1325A=) c.869A= | |
| 15 | g.48448878T>A | CA392342495 | FBN1 | c.5561A>T (p.Gln1854Leu) n.4235A>T c.560A>T (p.Gln187Leu) c.*1324A>T (n.*1324A>T) c.868A>T | |
| 15 | g.48448878T>C | CA392342498 | FBN1 | c.5561A>G (p.Gln1854Arg) n.4235A>G c.560A>G (p.Gln187Arg) c.*1324A>G (n.*1324A>G) c.868A>G | |
| 15 | g.48448878T>G | CA392342500 | FBN1 | c.5561A>C (p.Gln1854Pro) n.4235A>C c.560A>C (p.Gln187Pro) c.*1324A>C (n.*1324A>C) c.868A>C | |
| 15 | g.48448879G>A | CA392342502 | FBN1 | c.5560C>T (p.Gln1854Ter) n.4234C>T c.559C>T (p.Gln187Ter) c.*1323C>T (n.*1323C>T) c.867C>T | ClinVar dbSNP |
| 15 | g.48448879G>C | CA392342504 | FBN1 | c.5560C>G (p.Gln1854Glu) n.4234C>G c.559C>G (p.Gln187Glu) c.*1323C>G (n.*1323C>G) c.867C>G | |
| 15 | g.48448879G>T | CA392342515 | FBN1 | c.5560C>A (p.Gln1854Lys) n.4234C>A c.559C>A (p.Gln187Lys) c.*1323C>A (n.*1323C>A) c.867C>A | gnomAD v4 |
| 15 | g.48448880del | CA2695220289 | FBN1 | c.5559del (p.Gln1854LysfsTer?) n.4233del c.558del (p.Gln187LysfsTer?) c.*1322del (n.*1322del) c.866del | |
| 15 | g.48448880A>C | CA392342519 | FBN1 | c.5559T>G (p.Cys1853Trp) n.4233T>G c.558T>G (p.Cys186Trp) c.*1322T>G (n.*1322T>G) c.866T>G | ClinVar |
| 15 | g.48448880A>G | CA490023382 | FBN1 | c.5559T>C (p.Cys1853=) n.4233T>C c.558T>C (p.Cys186=) c.*1322T>C (n.*1322T>C) c.866T>C | |
| 15 | g.48448880A>T | CA392342522 | FBN1 | c.5559T>A (p.Cys1853Ter) n.4233T>A c.558T>A (p.Cys186Ter) c.*1322T>A (n.*1322T>A) c.866T>A | |
| 15 | g.48448881C>A | CA392342526 | FBN1 | c.5558G>T (p.Cys1853Phe) n.4232G>T c.557G>T (p.Cys186Phe) c.*1321G>T (n.*1321G>T) c.865G>T | |
| 15 | g.48448881C= | CA2175498547 | FBN1 | c.5558G= (p.Cys1853=) n.4232G= c.557G= (p.Cys186=) c.*1321G= (n.*1321G=) c.865G= | |
| 15 | g.48448881C>G | CA392342527 | FBN1 | c.5558G>C (p.Cys1853Ser) n.4232G>C c.557G>C (p.Cys186Ser) c.*1321G>C (n.*1321G>C) c.865G>C | ClinVar dbSNP |
| 15 | g.48448881C>T | CA392342530 | FBN1 | c.5558G>A (p.Cys1853Tyr) n.4232G>A c.557G>A (p.Cys186Tyr) c.*1321G>A (n.*1321G>A) c.865G>A | ClinVar dbSNP |
| 15 | g.48448882A= | CA2175498557 | FBN1 | c.5557T= (p.Cys1853=) n.4231T= c.556T= (p.Cys186=) c.*1320T= (n.*1320T=) c.864T= | |
| 15 | g.48448882A>C | CA392342534 | FBN1 | c.5557T>G (p.Cys1853Gly) n.4231T>G c.556T>G (p.Cys186Gly) c.*1320T>G (n.*1320T>G) c.864T>G | |
| 15 | g.48448882A>G | CA392342536 | FBN1 | c.5557T>C (p.Cys1853Arg) n.4231T>C c.556T>C (p.Cys186Arg) c.*1320T>C (n.*1320T>C) c.864T>C | ClinVar dbSNP |
| 15 | g.48448882A>T | CA392342539 | FBN1 | c.5557T>A (p.Cys1853Ser) n.4231T>A c.556T>A (p.Cys186Ser) c.*1320T>A (n.*1320T>A) c.864T>A | ClinVar dbSNP |
| 15 | g.48448883T>A | CA392342542 | FBN1 | c.5556A>T (p.Glu1852Asp) n.4230A>T c.555A>T (p.Glu185Asp) c.*1319A>T (n.*1319A>T) c.863A>T | |
| 15 | g.48448883T>C | CA055235 | FBN1 | c.5556A>G (p.Glu1852=) n.4230A>G c.555A>G (p.Glu185=) c.*1319A>G (n.*1319A>G) c.863A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48448883T>G | CA392342547 | FBN1 | c.5556A>C (p.Glu1852Asp) n.4230A>C c.555A>C (p.Glu185Asp) c.*1319A>C (n.*1319A>C) c.863A>C | |
| 15 | g.48448883T= | CA2175498567 | FBN1 | c.5556A= (p.Glu1852=) n.4230A= c.555A= (p.Glu185=) c.*1319A= (n.*1319A=) c.863A= | |
| 15 | g.48448884T>A | CA392342551 | FBN1 | c.5555A>T (p.Glu1852Val) n.4229A>T c.554A>T (p.Glu185Val) c.*1318A>T (n.*1318A>T) c.862A>T | |
| 15 | g.48448884T>C | CA347974 | FBN1 | c.5555A>G (p.Glu1852Gly) n.4229A>G c.554A>G (p.Glu185Gly) c.*1318A>G (n.*1318A>G) c.862A>G | ClinVar dbSNP |
| 15 | g.48448884T>G | CA392342557 | FBN1 | c.5555A>C (p.Glu1852Ala) n.4229A>C c.554A>C (p.Glu185Ala) c.*1318A>C (n.*1318A>C) c.862A>C | ClinVar |
| 15 | g.48448884T= | CA2175498574 | FBN1 | c.5555A= (p.Glu1852=) n.4229A= c.554A= (p.Glu185=) c.*1318A= (n.*1318A=) c.862A= | |
| 15 | g.48448885C>A | CA392342561 | FBN1 | c.5554G>T (p.Glu1852Ter) n.4228G>T c.553G>T (p.Glu185Ter) c.*1317G>T (n.*1317G>T) c.861G>T | |
| 15 | g.48448885C>G | CA392342567 | FBN1 | c.5554G>C (p.Glu1852Gln) n.4228G>C c.553G>C (p.Glu185Gln) c.*1317G>C (n.*1317G>C) c.861G>C | |
| 15 | g.48448885C>T | CA392342563 | FBN1 | c.5554G>A (p.Glu1852Lys) n.4228G>A c.553G>A (p.Glu185Lys) c.*1317G>A (n.*1317G>A) c.861G>A | |
| 15 | g.48448886A>C | CA392342570 | FBN1 | c.5553T>G (p.Asn1851Lys) n.4227T>G c.552T>G (p.Asn184Lys) c.*1316T>G (n.*1316T>G) c.860T>G | |
| 15 | g.48448886A>G | CA490023393 | FBN1 | c.5553T>C (p.Asn1851=) n.4227T>C c.552T>C (p.Asn184=) c.*1316T>C (n.*1316T>C) c.860T>C | gnomAD v4 |
| 15 | g.48448886A>T | CA392342572 | FBN1 | c.5553T>A (p.Asn1851Lys) n.4227T>A c.552T>A (p.Asn184Lys) c.*1316T>A (n.*1316T>A) c.860T>A | |
| 15 | g.48448887T>A | CA392342576 | FBN1 | c.5552A>T (p.Asn1851Ile) n.4226A>T c.551A>T (p.Asn184Ile) c.*1315A>T (n.*1315A>T) c.859A>T | |
| 15 | g.48448887T>C | CA015886 | FBN1 | c.5552A>G (p.Asn1851Ser) n.4226A>G c.551A>G (p.Asn184Ser) c.*1315A>G (n.*1315A>G) c.859A>G | ClinVar dbSNP |
| 15 | g.48448887T>G | CA392342581 | FBN1 | c.5552A>C (p.Asn1851Thr) n.4226A>C c.551A>C (p.Asn184Thr) c.*1315A>C (n.*1315A>C) c.859A>C | |
| 15 | g.48448887T= | CA2175498602 | FBN1 | c.5552A= (p.Asn1851=) n.4226A= c.551A= (p.Asn184=) c.*1315A= (n.*1315A=) c.859A= | |
| 15 | g.48448888T>A | CA392342585 | FBN1 | c.5551A>T (p.Asn1851Tyr) n.4225A>T c.550A>T (p.Asn184Tyr) c.*1314A>T (n.*1314A>T) c.858A>T | |
| 15 | g.48448888T>C | CA392342588 | FBN1 | c.5551A>G (p.Asn1851Asp) n.4225A>G c.550A>G (p.Asn184Asp) c.*1314A>G (n.*1314A>G) c.858A>G | |
| 15 | g.48448888T>G | CA392342591 | FBN1 | c.5551A>C (p.Asn1851His) n.4225A>C c.550A>C (p.Asn184His) c.*1314A>C (n.*1314A>C) c.858A>C | |
| 15 | g.48448889A>C | CA490023405 | FBN1 | c.5550T>G (p.Arg1850=) n.4224T>G c.549T>G (p.Arg183=) c.*1313T>G (n.*1313T>G) c.857T>G | |
| 15 | g.48448889A>G | CA490023407 | FBN1 | c.5550T>C (p.Arg1850=) n.4224T>C c.549T>C (p.Arg183=) c.*1313T>C (n.*1313T>C) c.857T>C | COSMIC |
| 15 | g.48448889A>T | CA490023409 | FBN1 | c.5550T>A (p.Arg1850=) n.4224T>A c.549T>A (p.Arg183=) c.*1313T>A (n.*1313T>A) c.857T>A | |
| 15 | g.48448890C>A | CA392342598 | FBN1 | c.5549G>T (p.Arg1850Leu) n.4223G>T c.548G>T (p.Arg183Leu) c.*1312G>T (n.*1312G>T) c.856G>T | ClinVar |
| 15 | g.48448890C= | CA2175498616 | FBN1 | c.5549G= (p.Arg1850=) n.4223G= c.548G= (p.Arg183=) c.*1312G= (n.*1312G=) c.856G= | |
| 15 | g.48448890C>G | CA392342600 | FBN1 | c.5549G>C (p.Arg1850Pro) n.4223G>C c.548G>C (p.Arg183Pro) c.*1312G>C (n.*1312G>C) c.856G>C | COSMIC |
| 15 | g.48448890C>T | CA055230 | FBN1 | c.5549G>A (p.Arg1850His) n.4223G>A c.548G>A (p.Arg183His) c.*1312G>A (n.*1312G>A) c.856G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448891G>A | CA055227 | FBN1 | c.5548C>T (p.Arg1850Cys) n.4222C>T c.547C>T (p.Arg183Cys) c.*1311C>T (n.*1311C>T) c.855C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48448891G>C | CA392342607 | FBN1 | c.5548C>G (p.Arg1850Gly) n.4222C>G c.547C>G (p.Arg183Gly) c.*1311C>G (n.*1311C>G) c.855C>G | gnomAD v4 |
| 15 | g.48448891G= | CA2175498623 | FBN1 | c.5548C= (p.Arg1850=) n.4222C= c.547C= (p.Arg183=) c.*1311C= (n.*1311C=) c.855C= | |
| 15 | g.48448891G>T | CA392342604 | FBN1 | c.5548C>A (p.Arg1850Ser) n.4222C>A c.547C>A (p.Arg183Ser) c.*1311C>A (n.*1311C>A) c.855C>A | |
| 15 | g.48448892A>C | CA392342613 | FBN1 | c.5547T>G (p.Asp1849Glu) n.4221T>G c.546T>G (p.Asp182Glu) c.*1310T>G (n.*1310T>G) c.854T>G | |
| 15 | g.48448892A>G | CA490023417 | FBN1 | c.5547T>C (p.Asp1849=) n.4221T>C c.546T>C (p.Asp182=) c.*1310T>C (n.*1310T>C) c.854T>C | |
| 15 | g.48448892A>T | CA392342615 | FBN1 | c.5547T>A (p.Asp1849Glu) n.4221T>A c.546T>A (p.Asp182Glu) c.*1310T>A (n.*1310T>A) c.854T>A | |
| 15 | g.48448893T>A | CA392342620 | FBN1 | c.5546A>T (p.Asp1849Val) n.4220A>T c.545A>T (p.Asp182Val) c.*1309A>T (n.*1309A>T) c.853A>T | dbSNP |
| 15 | g.48448893T>C | CA392342622 | FBN1 | c.5546A>G (p.Asp1849Gly) n.4220A>G c.545A>G (p.Asp182Gly) c.*1309A>G (n.*1309A>G) c.853A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48448893T>G | CA392342625 | FBN1 | c.5546A>C (p.Asp1849Ala) n.4220A>C c.545A>C (p.Asp182Ala) c.*1309A>C (n.*1309A>C) c.853A>C | |
| 15 | g.48448893T= | CA2175498628 | FBN1 | c.5546A= (p.Asp1849=) n.4220A= c.545A= (p.Asp182=) c.*1309A= (n.*1309A=) c.853A= | |
| 15 | g.48448894C>A | CA392342630 | FBN1 | c.5546-1G>T (n.5546-1G>T) n.4220-1G>T c.545-1G>T (n.545-1G>T) c.*1309-1G>T (n.*1309-1G>T) c.853-1G>T | |
| 15 | g.48448894C= | CA2175498633 | FBN1 | c.5546-1G= (n.5546-1G=) n.4220-1G= c.545-1G= (n.545-1G=) c.*1309-1G= (n.*1309-1G=) c.853-1G= | |
| 15 | g.48448894C>G | CA392342632 | FBN1 | c.5546-1G>C (n.5546-1G>C) n.4220-1G>C c.545-1G>C (n.545-1G>C) c.*1309-1G>C (n.*1309-1G>C) c.853-1G>C | |
| 15 | g.48448894C>T | CA392342636 | FBN1 | c.5546-1G>A (n.5546-1G>A) n.4220-1G>A c.545-1G>A (n.545-1G>A) c.*1309-1G>A (n.*1309-1G>A) c.853-1G>A | ClinVar dbSNP |
| 15 | g.48448894_48448895insATTGCAC | CA2628347967 | FBN1 | c.5546-1_5546insTGCAATG (n.5546-1_5546insTGCAATG) n.4220-1_4220insTGCAATG c.545-1_545insTGCAATG (n.545-1_545insTGCAATG) c.*1309-1_*1309insTGCAATG (n.*1309-1_*1309insTGCAATG) c.853-1_853insTGCAATG | gnomAD v4 |
| 15 | g.48448894_48448895insA | CA2628347968 | FBN1 | c.5546-2_5546-1insT (n.5546-2_5546-1insT) n.4220-2_4220-1insT c.545-2_545-1insT (n.545-2_545-1insT) c.*1309-2_*1309-1insT (n.*1309-2_*1309-1insT) c.853-2_853-1insT | gnomAD v4 |
| 15 | g.48448894_48448895insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCT | CA2628347969 | FBN1 | c.5546-2_5546-1insAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.5546-2_5546-1insAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) n.4220-2_4220-1insAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT c.545-2_545-1insAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.545-2_545-1insAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.*1309-2_*1309-1insAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.*1309-2_*1309-1insAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.853-2_853-1insAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT | gnomAD v4 |
| 15 | g.48448894_48448895insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAG | CA2628347970 | FBN1 | c.5546-2_5546-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.5546-2_5546-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) n.4220-2_4220-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT c.545-2_545-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.545-2_545-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.*1309-2_*1309-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.*1309-2_*1309-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.853-2_853-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT | gnomAD v4 |
| 15 | g.48448894_48448895insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCGG | CA2628347971 | FBN1 | c.5546-2_5546-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.5546-2_5546-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) n.4220-2_4220-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT c.545-2_545-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.545-2_545-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.*1309-2_*1309-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.*1309-2_*1309-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.853-2_853-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT | gnomAD v4 |
| 15 | g.48448894_48448895insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCGGTAGCTGCCTGCAG | CA2628347972 | FBN1 | c.5546-2_5546-1insCTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.5546-2_5546-1insCTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) n.4220-2_4220-1insCTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT c.545-2_545-1insCTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.545-2_545-1insCTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.*1309-2_*1309-1insCTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.*1309-2_*1309-1insCTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.853-2_853-1insCTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT | gnomAD v4 |
| 15 | g.48448894_48448895insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCGGTAGCTGCCTGCAGTGTTGATGCAT | CA2628347973 | FBN1 | c.5546-2_5546-1insATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.5546-2_5546-1insATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) n.4220-2_4220-1insATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT c.545-2_545-1insATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.545-2_545-1insATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.*1309-2_*1309-1insATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.*1309-2_*1309-1insATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.853-2_853-1insATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT | gnomAD v4 |
| 15 | g.48448894_48448895insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCGGTAGCTGCCTGCAGTGTTGATGCATTCGGCG | CA2628347974 | FBN1 | c.5546-2_5546-1insCGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.5546-2_5546-1insCGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) n.4220-2_4220-1insCGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT c.545-2_545-1insCGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.545-2_545-1insCGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.*1309-2_*1309-1insCGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.*1309-2_*1309-1insCGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.853-2_853-1insCGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT | gnomAD v4 |
| 15 | g.48448894_48448895insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCGGTAGCTGCCTGCAGTGTTGATGCATTCGGCGT | CA2628347975 | FBN1 | c.5546-2_5546-1insACGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.5546-2_5546-1insACGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) n.4220-2_4220-1insACGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT c.545-2_545-1insACGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.545-2_545-1insACGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.*1309-2_*1309-1insACGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT (n.*1309-2_*1309-1insACGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT) c.853-2_853-1insACGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT | gnomAD v4 |
| 15 | g.48448895T>A | CA392342639 | FBN1 | c.5546-2A>T (n.5546-2A>T) n.4220-2A>T c.545-2A>T (n.545-2A>T) c.*1309-2A>T (n.*1309-2A>T) c.853-2A>T | |
| 15 | g.48448895T>C | CA392342642 | FBN1 | c.5546-2A>G (n.5546-2A>G) n.4220-2A>G c.545-2A>G (n.545-2A>G) c.*1309-2A>G (n.*1309-2A>G) c.853-2A>G | |
| 15 | g.48448895T>G | CA392342645 | FBN1 | c.5546-2A>C (n.5546-2A>C) n.4220-2A>C c.545-2A>C (n.545-2A>C) c.*1309-2A>C (n.*1309-2A>C) c.853-2A>C | |
| 15 | g.48448895_48448896insTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCG | CA2628347976 | FBN1 | c.5546-3_5546-2insCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCA (n.5546-3_5546-2insCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCA) n.4220-3_4220-2insCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCA c.545-3_545-2insCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCA (n.545-3_545-2insCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCA) c.*1309-3_*1309-2insCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCA (n.*1309-3_*1309-2insCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCA) c.853-3_853-2insCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCA | gnomAD v4 |
| 15 | g.48448896G>C | CA2580089564 | FBN1 | c.5546-3C>G (n.5546-3C>G) n.4220-3C>G c.545-3C>G (n.545-3C>G) c.*1309-3C>G (n.*1309-3C>G) c.853-3C>G | ClinVar |
| 15 | g.48448897T>G | CA269535074 | FBN1 | c.5546-4A>C (n.5546-4A>C) n.4220-4A>C c.545-4A>C (n.545-4A>C) c.*1309-4A>C (n.*1309-4A>C) c.853-4A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448897T= | CA2175498642 | FBN1 | c.5546-4A= (n.5546-4A=) n.4220-4A= c.545-4A= (n.545-4A=) c.*1309-4A= (n.*1309-4A=) c.853-4A= | |
| 15 | g.48448897_48448898insCCTGTGGAGGTG | CA2628347977 | FBN1 | c.5546-5_5546-4insCACCTCCACAGG (n.5546-5_5546-4insCACCTCCACAGG) n.4220-5_4220-4insCACCTCCACAGG c.545-5_545-4insCACCTCCACAGG (n.545-5_545-4insCACCTCCACAGG) c.*1309-5_*1309-4insCACCTCCACAGG (n.*1309-5_*1309-4insCACCTCCACAGG) c.853-5_853-4insCACCTCCACAGG | gnomAD v4 |
| 15 | g.48448897_48448898insCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCGGTAGCTGCCTGC | CA2628347979 | FBN1 | c.5546-5_5546-4insGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG (n.5546-5_5546-4insGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG) n.4220-5_4220-4insGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG c.545-5_545-4insGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG (n.545-5_545-4insGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG) c.*1309-5_*1309-4insGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG (n.*1309-5_*1309-4insGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG) c.853-5_853-4insGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG | gnomAD v4 |
| 15 | g.48448897_48448898insCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCGGTAGCTGCCTGCAGTGTTGATGC | CA2628347978 | FBN1 | c.5546-5_5546-4insGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG (n.5546-5_5546-4insGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG) n.4220-5_4220-4insGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG c.545-5_545-4insGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG (n.545-5_545-4insGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG) c.*1309-5_*1309-4insGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG (n.*1309-5_*1309-4insGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG) c.853-5_853-4insGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG | gnomAD v4 |
| 15 | g.48448899A= | CA2175498647 | FBN1 | c.5546-6T= (n.5546-6T=) n.4220-6T= c.545-6T= (n.545-6T=) c.*1309-6T= (n.*1309-6T=) c.853-6T= | |
| 15 | g.48448899A>G | CA2541075314 | FBN1 | c.5546-6T>C (n.5546-6T>C) n.4220-6T>C c.545-6T>C (n.545-6T>C) c.*1309-6T>C (n.*1309-6T>C) c.853-6T>C | |
| 15 | g.48448899A>T | CA2175498649 | FBN1 | c.5546-6T>A (n.5546-6T>A) n.4220-6T>A c.545-6T>A (n.545-6T>A) c.*1309-6T>A (n.*1309-6T>A) c.853-6T>A | dbSNP |
| 15 | g.48448899_48448900insGCGGTAGCCGGGCTTACAGTCACAGCGGTAGCTGCCTGCAGTGTTG | CA2628347980 | FBN1 | c.5546-7_5546-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC (n.5546-7_5546-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC) n.4220-7_4220-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC c.545-7_545-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC (n.545-7_545-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC) c.*1309-7_*1309-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC (n.*1309-7_*1309-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC) c.853-7_853-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC | gnomAD v4 |
| 15 | g.48448901T>A | CA2740096639 | FBN1 | c.5546-8A>T (n.5546-8A>T) n.4220-8A>T c.545-8A>T (n.545-8A>T) c.*1309-8A>T (n.*1309-8A>T) c.853-8A>T | ClinVar |