UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48446715C>A | CA392341031 | FBN1 | c.5779G>T (p.Asp1927Tyr) n.4453G>T c.778G>T (p.Asp260Tyr) c.*1542G>T (n.*1542G>T) c.1086G>T | gnomAD v4 |
| 15 | g.48446715C>G | CA392341033 | FBN1 | c.5779G>C (p.Asp1927His) n.4453G>C c.778G>C (p.Asp260His) c.*1542G>C (n.*1542G>C) c.1086G>C | |
| 15 | g.48446715C>T | CA392341035 | FBN1 | c.5779G>A (p.Asp1927Asn) n.4453G>A c.778G>A (p.Asp260Asn) c.*1542G>A (n.*1542G>A) c.1086G>A | |
| 15 | g.48446715_48446718delinsCATT | CA2175494876 | FBN1 | c.5776_5779delinsAATG (p.Asn1926=) n.4450_4453delinsAATG c.775_778delinsAATG (p.Asn259=) c.*1539_*1542delinsAATG (n.*1539_*1542delinsAATG) c.1083_1086delinsAATG | |
| 15 | g.48446716del | CA2695220253 | FBN1 | c.5778del (p.Asn1926LysfsTer4) n.4452del c.777del (p.Asn259LysfsTer4) c.*1541del (n.*1541del) c.1085del | |
| 15 | g.48446716A= | CA2175494884 | FBN1 | c.5778T= (p.Asn1926=) n.4452T= c.777T= (p.Asn259=) c.*1541T= (n.*1541T=) c.1085T= | |
| 15 | g.48446716A>C | CA392341037 | FBN1 | c.5778T>G (p.Asn1926Lys) n.4452T>G c.777T>G (p.Asn259Lys) c.*1541T>G (n.*1541T>G) c.1085T>G | ClinVar dbSNP |
| 15 | g.48446716A>G | CA490022962 | FBN1 | c.5778T>C (p.Asn1926=) n.4452T>C c.777T>C (p.Asn259=) c.*1541T>C (n.*1541T>C) c.1085T>C | |
| 15 | g.48446716A>T | CA392341040 | FBN1 | c.5778T>A (p.Asn1926Lys) n.4452T>A c.777T>A (p.Asn259Lys) c.*1541T>A (n.*1541T>A) c.1085T>A | |
| 15 | g.48446716_48446718del | CA10587812 | FBN1 | c.5776_5778del (p.Asn1926del) n.4450_4452del c.775_777del (p.Asn259del) c.*1539_*1541del (n.*1539_*1541del) c.1083_1085del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446717T>A | CA392341042 | FBN1 | c.5777A>T (p.Asn1926Ile) n.4451A>T c.776A>T (p.Asn259Ile) c.*1540A>T (n.*1540A>T) c.1084A>T | |
| 15 | g.48446717T>C | CA392341044 | FBN1 | c.5777A>G (p.Asn1926Ser) n.4451A>G c.776A>G (p.Asn259Ser) c.*1540A>G (n.*1540A>G) c.1084A>G | dbSNP gnomAD v4 |
| 15 | g.48446717T>G | CA392341046 | FBN1 | c.5777A>C (p.Asn1926Thr) n.4451A>C c.776A>C (p.Asn259Thr) c.*1540A>C (n.*1540A>C) c.1084A>C | |
| 15 | g.48446717T= | CA2175494895 | FBN1 | c.5777A= (p.Asn1926=) n.4451A= c.776A= (p.Asn259=) c.*1540A= (n.*1540A=) c.1084A= | |
| 15 | g.48446718T>A | CA392341048 | FBN1 | c.5776A>T (p.Asn1926Tyr) n.4450A>T c.775A>T (p.Asn259Tyr) c.*1539A>T (n.*1539A>T) c.1083A>T | |
| 15 | g.48446718T>C | CA16614411 | FBN1 | c.5776A>G (p.Asn1926Asp) n.4450A>G c.775A>G (p.Asn259Asp) c.*1539A>G (n.*1539A>G) c.1083A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48446718T>G | CA392341050 | FBN1 | c.5776A>C (p.Asn1926His) n.4450A>C c.775A>C (p.Asn259His) c.*1539A>C (n.*1539A>C) c.1083A>C | |
| 15 | g.48446718T= | CA2175494907 | FBN1 | c.5776A= (p.Asn1926=) n.4450A= c.775A= (p.Asn259=) c.*1539A= (n.*1539A=) c.1083A= | |
| 15 | g.48446719G>A | CA490022964 | FBN1 | c.5775C>T (p.Asn1925=) n.4449C>T c.774C>T (p.Asn258=) c.*1538C>T (n.*1538C>T) c.1082C>T | gnomAD v4 |
| 15 | g.48446719G>C | CA392341051 | FBN1 | c.5775C>G (p.Asn1925Lys) n.4449C>G c.774C>G (p.Asn258Lys) c.*1538C>G (n.*1538C>G) c.1082C>G | |
| 15 | g.48446719G>T | CA392341053 | FBN1 | c.5775C>A (p.Asn1925Lys) n.4449C>A c.774C>A (p.Asn258Lys) c.*1538C>A (n.*1538C>A) c.1082C>A | |
| 15 | g.48446720T>A | CA392341055 | FBN1 | c.5774A>T (p.Asn1925Ile) n.4448A>T c.773A>T (p.Asn258Ile) c.*1537A>T (n.*1537A>T) c.1081A>T | |
| 15 | g.48446720T>C | CA055509 | FBN1 | c.5774A>G (p.Asn1925Ser) n.4448A>G c.773A>G (p.Asn258Ser) c.*1537A>G (n.*1537A>G) c.1081A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446720T>G | CA392341059 | FBN1 | c.5774A>C (p.Asn1925Thr) n.4448A>C c.773A>C (p.Asn258Thr) c.*1537A>C (n.*1537A>C) c.1081A>C | |
| 15 | g.48446720T= | CA2175494913 | FBN1 | c.5774A= (p.Asn1925=) n.4448A= c.773A= (p.Asn258=) c.*1537A= (n.*1537A=) c.1081A= | |
| 15 | g.48446721T>A | CA392341061 | FBN1 | c.5773A>T (p.Asn1925Tyr) n.4447A>T c.772A>T (p.Asn258Tyr) c.*1536A>T (n.*1536A>T) c.1080A>T | |
| 15 | g.48446721T>C | CA392341064 | FBN1 | c.5773A>G (p.Asn1925Asp) n.4447A>G c.772A>G (p.Asn258Asp) c.*1536A>G (n.*1536A>G) c.1080A>G | |
| 15 | g.48446721T>G | CA392341066 | FBN1 | c.5773A>C (p.Asn1925His) n.4447A>C c.772A>C (p.Asn258His) c.*1536A>C (n.*1536A>C) c.1080A>C | |
| 15 | g.48446722G>A | CA490022966 | FBN1 | c.5772C>T (p.His1924=) n.4446C>T c.771C>T (p.His257=) c.*1535C>T (n.*1535C>T) c.1079C>T | |
| 15 | g.48446722G>C | CA392341067 | FBN1 | c.5772C>G (p.His1924Gln) n.4446C>G c.771C>G (p.His257Gln) c.*1535C>G (n.*1535C>G) c.1079C>G | |
| 15 | g.48446722G>T | CA392341068 | FBN1 | c.5772C>A (p.His1924Gln) n.4446C>A c.771C>A (p.His257Gln) c.*1535C>A (n.*1535C>A) c.1079C>A | gnomAD v4 |
| 15 | g.48446723T>A | CA392341071 | FBN1 | c.5771A>T (p.His1924Leu) n.4445A>T c.770A>T (p.His257Leu) c.*1534A>T (n.*1534A>T) c.1078A>T | |
| 15 | g.48446723T>C | CA055499 | FBN1 | c.5771A>G (p.His1924Arg) n.4445A>G c.770A>G (p.His257Arg) c.*1534A>G (n.*1534A>G) c.1078A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446723T>G | CA392341072 | FBN1 | c.5771A>C (p.His1924Pro) n.4445A>C c.770A>C (p.His257Pro) c.*1534A>C (n.*1534A>C) c.1078A>C | |
| 15 | g.48446723T= | CA2175494919 | FBN1 | c.5771A= (p.His1924=) n.4445A= c.770A= (p.His257=) c.*1534A= (n.*1534A=) c.1078A= | |
| 15 | g.48446724G>A | CA392341075 | FBN1 | c.5770C>T (p.His1924Tyr) n.4444C>T c.769C>T (p.His257Tyr) c.*1533C>T (n.*1533C>T) c.1077C>T | |
| 15 | g.48446724G>C | CA392341076 | FBN1 | c.5770C>G (p.His1924Asp) n.4444C>G c.769C>G (p.His257Asp) c.*1533C>G (n.*1533C>G) c.1077C>G | |
| 15 | g.48446724G= | CA2175494936 | FBN1 | c.5770C= (p.His1924=) n.4444C= c.769C= (p.His257=) c.*1533C= (n.*1533C=) c.1077C= | |
| 15 | g.48446724G>T | CA392341078 | FBN1 | c.5770C>A (p.His1924Asn) n.4444C>A c.769C>A (p.His257Asn) c.*1533C>A (n.*1533C>A) c.1077C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446725A>C | CA490022967 | FBN1 | c.5769T>G (p.Ser1923=) n.4443T>G c.768T>G (p.Ser256=) c.*1532T>G (n.*1532T>G) c.1076T>G | |
| 15 | g.48446725A>G | CA490022969 | FBN1 | c.5769T>C (p.Ser1923=) n.4443T>C c.768T>C (p.Ser256=) c.*1532T>C (n.*1532T>C) c.1076T>C | |
| 15 | g.48446725A>T | CA490022970 | FBN1 | c.5769T>A (p.Ser1923=) n.4443T>A c.768T>A (p.Ser256=) c.*1532T>A (n.*1532T>A) c.1076T>A | |
| 15 | g.48446726G>A | CA392341080 | FBN1 | c.5768C>T (p.Ser1923Phe) n.4442C>T c.767C>T (p.Ser256Phe) c.*1531C>T (n.*1531C>T) c.1075C>T | |
| 15 | g.48446726G>C | CA392341082 | FBN1 | c.5768C>G (p.Ser1923Cys) n.4442C>G c.767C>G (p.Ser256Cys) c.*1531C>G (n.*1531C>G) c.1075C>G | |
| 15 | g.48446726G>T | CA392341084 | FBN1 | c.5768C>A (p.Ser1923Tyr) n.4442C>A c.767C>A (p.Ser256Tyr) c.*1531C>A (n.*1531C>A) c.1075C>A | |
| 15 | g.48446727A= | CA2175494943 | FBN1 | c.5767T= (p.Ser1923=) n.4441T= c.766T= (p.Ser256=) c.*1530T= (n.*1530T=) c.1074T= | |
| 15 | g.48446727A>C | CA392341086 | FBN1 | c.5767T>G (p.Ser1923Ala) n.4441T>G c.766T>G (p.Ser256Ala) c.*1530T>G (n.*1530T>G) c.1074T>G | |
| 15 | g.48446727A>G | CA016036 | FBN1 | c.5767T>C (p.Ser1923Pro) n.4441T>C c.766T>C (p.Ser256Pro) c.*1530T>C (n.*1530T>C) c.1074T>C | ClinVar dbSNP |
| 15 | g.48446727A>T | CA392341089 | FBN1 | c.5767T>A (p.Ser1923Thr) n.4441T>A c.766T>A (p.Ser256Thr) c.*1530T>A (n.*1530T>A) c.1074T>A | |
| 15 | g.48446728A>C | CA490022971 | FBN1 | c.5766T>G (p.Leu1922=) n.4440T>G c.765T>G (p.Leu255=) c.*1529T>G (n.*1529T>G) c.1073T>G | |
| 15 | g.48446728A>G | CA490022972 | FBN1 | c.5766T>C (p.Leu1922=) n.4440T>C c.765T>C (p.Leu255=) c.*1529T>C (n.*1529T>C) c.1073T>C | |
| 15 | g.48446728A>T | CA490022973 | FBN1 | c.5766T>A (p.Leu1922=) n.4440T>A c.765T>A (p.Leu255=) c.*1529T>A (n.*1529T>A) c.1073T>A | |
| 15 | g.48446729A>C | CA392341091 | FBN1 | c.5765T>G (p.Leu1922Arg) n.4439T>G c.764T>G (p.Leu255Arg) c.*1528T>G (n.*1528T>G) c.1072T>G | |
| 15 | g.48446729A>G | CA392341093 | FBN1 | c.5765T>C (p.Leu1922Pro) n.4439T>C c.764T>C (p.Leu255Pro) c.*1528T>C (n.*1528T>C) c.1072T>C | |
| 15 | g.48446729A>T | CA392341095 | FBN1 | c.5765T>A (p.Leu1922His) n.4439T>A c.764T>A (p.Leu255His) c.*1528T>A (n.*1528T>A) c.1072T>A | |
| 15 | g.48446730G>A | CA392341097 | FBN1 | c.5764C>T (p.Leu1922Phe) n.4438C>T c.763C>T (p.Leu255Phe) c.*1527C>T (n.*1527C>T) c.1071C>T | |
| 15 | g.48446730G>C | CA392341101 | FBN1 | c.5764C>G (p.Leu1922Val) n.4438C>G c.763C>G (p.Leu255Val) c.*1527C>G (n.*1527C>G) c.1071C>G | gnomAD v4 |
| 15 | g.48446730G>T | CA392341099 | FBN1 | c.5764C>A (p.Leu1922Ile) n.4438C>A c.763C>A (p.Leu255Ile) c.*1527C>A (n.*1527C>A) c.1071C>A | |
| 15 | g.48446731G>A | CA269533720 | FBN1 | c.5763C>T (p.Ile1921=) n.4437C>T c.762C>T (p.Ile254=) c.*1526C>T (n.*1526C>T) c.1070C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48446731G>C | CA392341103 | FBN1 | c.5763C>G (p.Ile1921Met) n.4437C>G c.762C>G (p.Ile254Met) c.*1526C>G (n.*1526C>G) c.1070C>G | |
| 15 | g.48446731G= | CA2175494959 | FBN1 | c.5763C= (p.Ile1921=) n.4437C= c.762C= (p.Ile254=) c.*1526C= (n.*1526C=) c.1070C= | |
| 15 | g.48446731G>T | CA490022974 | FBN1 | c.5763C>A (p.Ile1921=) n.4437C>A c.762C>A (p.Ile254=) c.*1526C>A (n.*1526C>A) c.1070C>A | |
| 15 | g.48446732A= | CA2175494964 | FBN1 | c.5762T= (p.Ile1921=) n.4436T= c.761T= (p.Ile254=) c.*1525T= (n.*1525T=) c.1069T= | |
| 15 | g.48446732A>C | CA392341106 | FBN1 | c.5762T>G (p.Ile1921Ser) n.4436T>G c.761T>G (p.Ile254Ser) c.*1525T>G (n.*1525T>G) c.1069T>G | ClinVar gnomAD v4 |
| 15 | g.48446732A>G | CA392341107 | FBN1 | c.5762T>C (p.Ile1921Thr) n.4436T>C c.761T>C (p.Ile254Thr) c.*1525T>C (n.*1525T>C) c.1069T>C | dbSNP |
| 15 | g.48446732A>T | CA392341109 | FBN1 | c.5762T>A (p.Ile1921Asn) n.4436T>A c.761T>A (p.Ile254Asn) c.*1525T>A (n.*1525T>A) c.1069T>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48446733T>A | CA392341112 | FBN1 | c.5761A>T (p.Ile1921Phe) n.4435A>T c.760A>T (p.Ile254Phe) c.*1524A>T (n.*1524A>T) c.1068A>T | |
| 15 | g.48446733T>C | CA392341113 | FBN1 | c.5761A>G (p.Ile1921Val) n.4435A>G c.760A>G (p.Ile254Val) c.*1524A>G (n.*1524A>G) c.1068A>G | |
| 15 | g.48446733T>G | CA392341116 | FBN1 | c.5761A>C (p.Ile1921Leu) n.4435A>C c.760A>C (p.Ile254Leu) c.*1524A>C (n.*1524A>C) c.1068A>C | |
| 15 | g.48446734G>A | CA490022975 | FBN1 | c.5760C>T (p.Phe1920=) n.4434C>T c.759C>T (p.Phe253=) c.*1523C>T (n.*1523C>T) c.1067C>T | |
| 15 | g.48446734G>C | CA392341118 | FBN1 | c.5760C>G (p.Phe1920Leu) n.4434C>G c.759C>G (p.Phe253Leu) c.*1523C>G (n.*1523C>G) c.1067C>G | |
| 15 | g.48446734G>T | CA392341119 | FBN1 | c.5760C>A (p.Phe1920Leu) n.4434C>A c.759C>A (p.Phe253Leu) c.*1523C>A (n.*1523C>A) c.1067C>A | COSMIC |
| 15 | g.48446735A>C | CA392341122 | FBN1 | c.5759T>G (p.Phe1920Cys) n.4433T>G c.758T>G (p.Phe253Cys) c.*1522T>G (n.*1522T>G) c.1066T>G | |
| 15 | g.48446735A>G | CA392341123 | FBN1 | c.5759T>C (p.Phe1920Ser) n.4433T>C c.758T>C (p.Phe253Ser) c.*1522T>C (n.*1522T>C) c.1066T>C | |
| 15 | g.48446735A>T | CA392341125 | FBN1 | c.5759T>A (p.Phe1920Tyr) n.4433T>A c.758T>A (p.Phe253Tyr) c.*1522T>A (n.*1522T>A) c.1066T>A | |
| 15 | g.48446736A>C | CA392341130 | FBN1 | c.5758T>G (p.Phe1920Val) n.4432T>G c.757T>G (p.Phe253Val) c.*1521T>G (n.*1521T>G) c.1065T>G | |
| 15 | g.48446736A>G | CA392341128 | FBN1 | c.5758T>C (p.Phe1920Leu) n.4432T>C c.757T>C (p.Phe253Leu) c.*1521T>C (n.*1521T>C) c.1065T>C | |
| 15 | g.48446736A>T | CA392341129 | FBN1 | c.5758T>A (p.Phe1920Ile) n.4432T>A c.757T>A (p.Phe253Ile) c.*1521T>A (n.*1521T>A) c.1065T>A | |
| 15 | g.48446737A= | CA2175494971 | FBN1 | c.5757T= (p.Gly1919=) n.4431T= c.756T= (p.Gly252=) c.*1520T= (n.*1520T=) c.1064T= | |
| 15 | g.48446737A>C | CA490022976 | FBN1 | c.5757T>G (p.Gly1919=) n.4431T>G c.756T>G (p.Gly252=) c.*1520T>G (n.*1520T>G) c.1064T>G | |
| 15 | g.48446737A>G | CA055488 | FBN1 | c.5757T>C (p.Gly1919=) n.4431T>C c.756T>C (p.Gly252=) c.*1520T>C (n.*1520T>C) c.1064T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446737A>T | CA490022977 | FBN1 | c.5757T>A (p.Gly1919=) n.4431T>A c.756T>A (p.Gly252=) c.*1520T>A (n.*1520T>A) c.1064T>A | |
| 15 | g.48446737_48446738delinsAC | CA2175494974 | FBN1 | c.5756_5757delinsGT (p.Gly1919=) n.4430_4431delinsGT c.755_756delinsGT (p.Gly252=) c.*1519_*1520delinsGT (n.*1519_*1520delinsGT) c.1063_1064delinsGT | |
| 15 | g.48446738C>A | CA392341134 | FBN1 | c.5756G>T (p.Gly1919Val) n.4430G>T c.755G>T (p.Gly252Val) c.*1519G>T (n.*1519G>T) c.1063G>T | |
| 15 | g.48446738C>G | CA392341135 | FBN1 | c.5756G>C (p.Gly1919Ala) n.4430G>C c.755G>C (p.Gly252Ala) c.*1519G>C (n.*1519G>C) c.1063G>C | ClinVar dbSNP |
| 15 | g.48446738C>T | CA392341137 | FBN1 | c.5756G>A (p.Gly1919Asp) n.4430G>A c.755G>A (p.Gly252Asp) c.*1519G>A (n.*1519G>A) c.1063G>A | |
| 15 | g.48446739del | CA658798345 | FBN1 | c.5756del (p.Gly1919ValfsTer11) n.4430del c.755del (p.Gly252ValfsTer11) c.*1519del (n.*1519del) c.1063del | ClinVar dbSNP |
| 15 | g.48446739C>A | CA269533721 | FBN1 | c.5755G>T (p.Gly1919Cys) n.4429G>T c.754G>T (p.Gly252Cys) c.*1518G>T (n.*1518G>T) c.1062G>T | dbSNP |
| 15 | g.48446739C= | CA2175494997 | FBN1 | c.5755G= (p.Gly1919=) n.4429G= c.754G= (p.Gly252=) c.*1518G= (n.*1518G=) c.1062G= | |
| 15 | g.48446739C>G | CA392341139 | FBN1 | c.5755G>C (p.Gly1919Arg) n.4429G>C c.754G>C (p.Gly252Arg) c.*1518G>C (n.*1518G>C) c.1062G>C | |
| 15 | g.48446739C>T | CA392341141 | FBN1 | c.5755G>A (p.Gly1919Ser) n.4429G>A c.754G>A (p.Gly252Ser) c.*1518G>A (n.*1518G>A) c.1062G>A | ClinVar dbSNP |
| 15 | g.48446740A= | CA2175495005 | FBN1 | c.5754T= (p.His1918=) n.4428T= c.753T= (p.His251=) c.*1517T= (n.*1517T=) c.1061T= | |
| 15 | g.48446740A>C | CA392341143 | FBN1 | c.5754T>G (p.His1918Gln) n.4428T>G c.753T>G (p.His251Gln) c.*1517T>G (n.*1517T>G) c.1061T>G | |
| 15 | g.48446740A>G | CA490022979 | FBN1 | c.5754T>C (p.His1918=) n.4428T>C c.753T>C (p.His251=) c.*1517T>C (n.*1517T>C) c.1061T>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446740A>T | CA392341145 | FBN1 | c.5754T>A (p.His1918Gln) n.4428T>A c.753T>A (p.His251Gln) c.*1517T>A (n.*1517T>A) c.1061T>A | |
| 15 | g.48446741T>A | CA392341147 | FBN1 | c.5753A>T (p.His1918Leu) n.4427A>T c.752A>T (p.His251Leu) c.*1516A>T (n.*1516A>T) c.1060A>T | |
| 15 | g.48446741T>C | CA269533722 | FBN1 | c.5753A>G (p.His1918Arg) n.4427A>G c.752A>G (p.His251Arg) c.*1516A>G (n.*1516A>G) c.1060A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446741T>G | CA392341149 | FBN1 | c.5753A>C (p.His1918Pro) n.4427A>C c.752A>C (p.His251Pro) c.*1516A>C (n.*1516A>C) c.1060A>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48446741T= | CA2175495010 | FBN1 | c.5753A= (p.His1918=) n.4427A= c.752A= (p.His251=) c.*1516A= (n.*1516A=) c.1060A= | |
| 15 | g.48446742G>A | CA392341155 | FBN1 | c.5752C>T (p.His1918Tyr) n.4426C>T c.751C>T (p.His251Tyr) c.*1515C>T (n.*1515C>T) c.1059C>T | |
| 15 | g.48446742G>C | CA392341152 | FBN1 | c.5752C>G (p.His1918Asp) n.4426C>G c.751C>G (p.His251Asp) c.*1515C>G (n.*1515C>G) c.1059C>G | |
| 15 | g.48446742G>T | CA392341154 | FBN1 | c.5752C>A (p.His1918Asn) n.4426C>A c.751C>A (p.His251Asn) c.*1515C>A (n.*1515C>A) c.1059C>A | |
| 15 | g.48446743A>C | CA392341157 | FBN1 | c.5751T>G (p.Asn1917Lys) n.4425T>G c.750T>G (p.Asn250Lys) c.*1514T>G (n.*1514T>G) c.1058T>G | |
| 15 | g.48446743A>G | CA490022980 | FBN1 | c.5751T>C (p.Asn1917=) n.4425T>C c.750T>C (p.Asn250=) c.*1514T>C (n.*1514T>C) c.1058T>C | |
| 15 | g.48446743A>T | CA392341159 | FBN1 | c.5751T>A (p.Asn1917Lys) n.4425T>A c.750T>A (p.Asn250Lys) c.*1514T>A (n.*1514T>A) c.1058T>A | |
| 15 | g.48446744T>A | CA392341161 | FBN1 | c.5750A>T (p.Asn1917Ile) n.4424A>T c.749A>T (p.Asn250Ile) c.*1513A>T (n.*1513A>T) c.1057A>T | |
| 15 | g.48446744T>C | CA392341162 | FBN1 | c.5750A>G (p.Asn1917Ser) n.4424A>G c.749A>G (p.Asn250Ser) c.*1513A>G (n.*1513A>G) c.1057A>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48446744T>G | CA392341165 | FBN1 | c.5750A>C (p.Asn1917Thr) n.4424A>C c.749A>C (p.Asn250Thr) c.*1513A>C (n.*1513A>C) c.1057A>C | |
| 15 | g.48446744T= | CA2175495016 | FBN1 | c.5750A= (p.Asn1917=) n.4424A= c.749A= (p.Asn250=) c.*1513A= (n.*1513A=) c.1057A= | |
| 15 | g.48446745T>A | CA392341167 | FBN1 | c.5749A>T (p.Asn1917Tyr) n.4423A>T c.748A>T (p.Asn250Tyr) c.*1512A>T (n.*1512A>T) c.1056A>T | |
| 15 | g.48446745T>C | CA392341168 | FBN1 | c.5749A>G (p.Asn1917Asp) n.4423A>G c.748A>G (p.Asn250Asp) c.*1512A>G (n.*1512A>G) c.1056A>G | |
| 15 | g.48446745T>G | CA392341171 | FBN1 | c.5749A>C (p.Asn1917His) n.4423A>C c.748A>C (p.Asn250His) c.*1512A>C (n.*1512A>C) c.1056A>C | |
| 15 | g.48446745T= | CA2175495022 | FBN1 | c.5749A= (p.Asn1917=) n.4423A= c.748A= (p.Asn250=) c.*1512A= (n.*1512A=) c.1056A= | |
| 15 | g.48446746G>A | CA490022981 | FBN1 | c.5748C>T (p.Cys1916=) n.4422C>T c.747C>T (p.Cys249=) c.*1511C>T (n.*1511C>T) c.1055C>T | gnomAD v4 |
| 15 | g.48446746G>C | CA392341172 | FBN1 | c.5748C>G (p.Cys1916Trp) n.4422C>G c.747C>G (p.Cys249Trp) c.*1511C>G (n.*1511C>G) c.1055C>G | |
| 15 | g.48446746G>T | CA392341173 | FBN1 | c.5748C>A (p.Cys1916Ter) n.4422C>A c.747C>A (p.Cys249Ter) c.*1511C>A (n.*1511C>A) c.1055C>A | |
| 15 | g.48446748_48446750dup | CA915945985 | FBN1 | c.5746_5748dup (p.Cys1916_Asn1917insCys) n.4420_4422dup c.745_747dup (p.Cys249_Asn250insCys) c.*1509_*1511dup (n.*1509_*1511dup) c.1053_1055dup | ClinVar dbSNP |
| 15 | g.48446747C>A | CA392341176 | FBN1 | c.5747G>T (p.Cys1916Phe) n.4421G>T c.746G>T (p.Cys249Phe) c.*1510G>T (n.*1510G>T) c.1054G>T | ClinVar dbSNP |
| 15 | g.48446747C= | CA2175495042 | FBN1 | c.5747G= (p.Cys1916=) n.4421G= c.746G= (p.Cys249=) c.*1510G= (n.*1510G=) c.1054G= | |
| 15 | g.48446747C>G | CA392341177 | FBN1 | c.5747G>C (p.Cys1916Ser) n.4421G>C c.746G>C (p.Cys249Ser) c.*1510G>C (n.*1510G>C) c.1054G>C | |
| 15 | g.48446747C>T | CA016026 | FBN1 | c.5747G>A (p.Cys1916Tyr) n.4421G>A c.746G>A (p.Cys249Tyr) c.*1510G>A (n.*1510G>A) c.1054G>A | ClinVar dbSNP |
| 15 | g.48446748A= | CA2175495046 | FBN1 | c.5746T= (p.Cys1916=) n.4420T= c.745T= (p.Cys249=) c.*1509T= (n.*1509T=) c.1053T= | |
| 15 | g.48446748A>C | CA392341183 | FBN1 | c.5746T>G (p.Cys1916Gly) n.4420T>G c.745T>G (p.Cys249Gly) c.*1509T>G (n.*1509T>G) c.1053T>G | ClinVar dbSNP |
| 15 | g.48446748A>G | CA016016 | FBN1 | c.5746T>C (p.Cys1916Arg) n.4420T>C c.745T>C (p.Cys249Arg) c.*1509T>C (n.*1509T>C) c.1053T>C | ClinVar dbSNP |
| 15 | g.48446748A>T | CA392341181 | FBN1 | c.5746T>A (p.Cys1916Ser) n.4420T>A c.745T>A (p.Cys249Ser) c.*1509T>A (n.*1509T>A) c.1053T>A | |
| 15 | g.48446749G>A | CA490022982 | FBN1 | c.5745C>T (p.Arg1915=) n.4419C>T c.744C>T (p.Arg248=) c.*1508C>T (n.*1508C>T) c.1052C>T | gnomAD v4 |
| 15 | g.48446749G>C | CA490022983 | FBN1 | c.5745C>G (p.Arg1915=) n.4419C>G c.744C>G (p.Arg248=) c.*1508C>G (n.*1508C>G) c.1052C>G | |
| 15 | g.48446749G>T | CA490022984 | FBN1 | c.5745C>A (p.Arg1915=) n.4419C>A c.744C>A (p.Arg248=) c.*1508C>A (n.*1508C>A) c.1052C>A | |
| 15 | g.48446750C>A | CA392341185 | FBN1 | c.5744G>T (p.Arg1915Leu) n.4418G>T c.743G>T (p.Arg248Leu) c.*1507G>T (n.*1507G>T) c.1051G>T | gnomAD v4 |
| 15 | g.48446750C= | CA2175495051 | FBN1 | c.5744G= (p.Arg1915=) n.4418G= c.743G= (p.Arg248=) c.*1507G= (n.*1507G=) c.1051G= | |
| 15 | g.48446750C>G | CA392341186 | FBN1 | c.5744G>C (p.Arg1915Pro) n.4418G>C c.743G>C (p.Arg248Pro) c.*1507G>C (n.*1507G>C) c.1051G>C | |
| 15 | g.48446750C>T | CA392341188 | FBN1 | c.5744G>A (p.Arg1915His) n.4418G>A c.743G>A (p.Arg248His) c.*1507G>A (n.*1507G>A) c.1051G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48446750_48446751insA | CA645584728 | FBN1 | c.5743_5744insT (p.Arg1915LeufsTer13) n.4417_4418insT c.742_743insT (p.Arg248LeufsTer13) c.*1506_*1507insT (n.*1506_*1507insT) c.1050_1051insT | COSMIC |
| 15 | g.48446751G>A | CA392341191 | FBN1 | c.5743C>T (p.Arg1915Cys) n.4417C>T c.742C>T (p.Arg248Cys) c.*1506C>T (n.*1506C>T) c.1050C>T | ClinVar dbSNP |
| 15 | g.48446751G>C | CA392341192 | FBN1 | c.5743C>G (p.Arg1915Gly) n.4417C>G c.742C>G (p.Arg248Gly) c.*1506C>G (n.*1506C>G) c.1050C>G | |
| 15 | g.48446751G= | CA2175495064 | FBN1 | c.5743C= (p.Arg1915=) n.4417C= c.742C= (p.Arg248=) c.*1506C= (n.*1506C=) c.1050C= | |
| 15 | g.48446751G>T | CA392341194 | FBN1 | c.5743C>A (p.Arg1915Ser) n.4417C>A c.742C>A (p.Arg248Ser) c.*1506C>A (n.*1506C>A) c.1050C>A | ClinVar dbSNP |
| 15 | g.48446751_48446752insT | CA490022987 | FBN1 | c.5742_5743insA (p.Arg1915ThrfsTer13) n.4416_4417insA c.741_742insA (p.Arg248ThrfsTer13) c.*1505_*1506insA (n.*1505_*1506insA) c.1049_1050insA | |
| 15 | g.48446752G>A | CA490022986 | FBN1 | c.5742C>T (p.Cys1914=) n.4416C>T c.741C>T (p.Cys247=) c.*1505C>T (n.*1505C>T) c.1049C>T | |
| 15 | g.48446752G>C | CA392341196 | FBN1 | c.5742C>G (p.Cys1914Trp) n.4416C>G c.741C>G (p.Cys247Trp) c.*1505C>G (n.*1505C>G) c.1049C>G | |
| 15 | g.48446752G>T | CA392341198 | FBN1 | c.5742C>A (p.Cys1914Ter) n.4416C>A c.741C>A (p.Cys247Ter) c.*1505C>A (n.*1505C>A) c.1049C>A | |
| 15 | g.48446753C>A | CA392341200 | FBN1 | c.5741G>T (p.Cys1914Phe) n.4415G>T c.740G>T (p.Cys247Phe) c.*1504G>T (n.*1504G>T) c.1048G>T | ClinVar dbSNP |
| 15 | g.48446753C= | CA2175495075 | FBN1 | c.5741G= (p.Cys1914=) n.4415G= c.740G= (p.Cys247=) c.*1504G= (n.*1504G=) c.1048G= | |
| 15 | g.48446753C>G | CA392341201 | FBN1 | c.5741G>C (p.Cys1914Ser) n.4415G>C c.740G>C (p.Cys247Ser) c.*1504G>C (n.*1504G>C) c.1048G>C | |
| 15 | g.48446753C>T | CA392341202 | FBN1 | c.5741G>A (p.Cys1914Tyr) n.4415G>A c.740G>A (p.Cys247Tyr) c.*1504G>A (n.*1504G>A) c.1048G>A | ClinVar |
| 15 | g.48446754A>C | CA392341204 | FBN1 | c.5740T>G (p.Cys1914Gly) n.4414T>G c.739T>G (p.Cys247Gly) c.*1503T>G (n.*1503T>G) c.1047T>G | ClinVar dbSNP |
| 15 | g.48446754A>G | CA392341206 | FBN1 | c.5740T>C (p.Cys1914Arg) n.4414T>C c.739T>C (p.Cys247Arg) c.*1503T>C (n.*1503T>C) c.1047T>C | |
| 15 | g.48446754A>T | CA392341208 | FBN1 | c.5740T>A (p.Cys1914Ser) n.4414T>A c.739T>A (p.Cys247Ser) c.*1503T>A (n.*1503T>A) c.1047T>A | |
| 15 | g.48446754_48446769delinsTTCAACTG | CA2695220258 | FBN1 | c.5725_5740delinsCAGTTGAA (p.Ile1909GlnfsTer16) n.4399_4414delinsCAGTTGAA c.724_739delinsCAGTTGAA (p.Ile242GlnfsTer16) c.*1488_*1503delinsCAGTTGAA (n.*1488_*1503delinsCAGTTGAA) c.1032_1047delinsCAGTTGAA | |
| 15 | g.48446755G>A | CA055472 | FBN1 | c.5739C>T (p.Asn1913=) n.4413C>T c.738C>T (p.Asn246=) c.*1502C>T (n.*1502C>T) c.1046C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48446755G>C | CA392341210 | FBN1 | c.5739C>G (p.Asn1913Lys) n.4413C>G c.738C>G (p.Asn246Lys) c.*1502C>G (n.*1502C>G) c.1046C>G | |
| 15 | g.48446755G= | CA2175495082 | FBN1 | c.5739C= (p.Asn1913=) n.4413C= c.738C= (p.Asn246=) c.*1502C= (n.*1502C=) c.1046C= | |
| 15 | g.48446755G>T | CA392341209 | FBN1 | c.5739C>A (p.Asn1913Lys) n.4413C>A c.738C>A (p.Asn246Lys) c.*1502C>A (n.*1502C>A) c.1046C>A | |
| 15 | g.48446756T>A | CA392341213 | FBN1 | c.5738A>T (p.Asn1913Ile) n.4412A>T c.737A>T (p.Asn246Ile) c.*1501A>T (n.*1501A>T) c.1045A>T | |
| 15 | g.48446756T>C | CA055467 | FBN1 | c.5738A>G (p.Asn1913Ser) n.4412A>G c.737A>G (p.Asn246Ser) c.*1501A>G (n.*1501A>G) c.1045A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446756T>G | CA392341215 | FBN1 | c.5738A>C (p.Asn1913Thr) n.4412A>C c.737A>C (p.Asn246Thr) c.*1501A>C (n.*1501A>C) c.1045A>C | |
| 15 | g.48446756T= | CA2175495091 | FBN1 | c.5738A= (p.Asn1913=) n.4412A= c.737A= (p.Asn246=) c.*1501A= (n.*1501A=) c.1045A= | |
| 15 | g.48446757T>A | CA392341217 | FBN1 | c.5737A>T (p.Asn1913Tyr) n.4411A>T c.736A>T (p.Asn246Tyr) c.*1500A>T (n.*1500A>T) c.1044A>T | |
| 15 | g.48446757T>C | CA392341218 | FBN1 | c.5737A>G (p.Asn1913Asp) n.4411A>G c.736A>G (p.Asn246Asp) c.*1500A>G (n.*1500A>G) c.1044A>G | |
| 15 | g.48446757T>G | CA392341220 | FBN1 | c.5737A>C (p.Asn1913His) n.4411A>C c.736A>C (p.Asn246His) c.*1500A>C (n.*1500A>C) c.1044A>C | |
| 15 | g.48446758del | CA2695220260 | FBN1 | c.5736del (p.Phe1912LeufsTer18) n.4410del c.735del (p.Phe245LeufsTer18) c.*1499del (n.*1499del) c.1043del | |
| 15 | g.48446758G>A | CA490022988 | FBN1 | c.5736C>T (p.Phe1912=) n.4410C>T c.735C>T (p.Phe245=) c.*1499C>T (n.*1499C>T) c.1043C>T | |
| 15 | g.48446758G>C | CA392341224 | FBN1 | c.5736C>G (p.Phe1912Leu) n.4410C>G c.735C>G (p.Phe245Leu) c.*1499C>G (n.*1499C>G) c.1043C>G | ClinVar dbSNP |
| 15 | g.48446758G= | CA2175495095 | FBN1 | c.5736C= (p.Phe1912=) n.4410C= c.735C= (p.Phe245=) c.*1499C= (n.*1499C=) c.1043C= | |
| 15 | g.48446758G>T | CA392341223 | FBN1 | c.5736C>A (p.Phe1912Leu) n.4410C>A c.735C>A (p.Phe245Leu) c.*1499C>A (n.*1499C>A) c.1043C>A | |
| 15 | g.48446758_48446759delinsGA | CA2175495093 | FBN1 | c.5735_5736delinsTC (p.Phe1912=) n.4409_4410delinsTC c.734_735delinsTC (p.Phe245=) c.*1498_*1499delinsTC (n.*1498_*1499delinsTC) c.1042_1043delinsTC | |
| 15 | g.48446759_48446761del | CA916084365 | FBN1 | c.5734_5736del (p.Phe1912del) n.4408_4410del c.733_735del (p.Phe245del) c.*1497_*1499del (n.*1497_*1499del) c.1041_1043del | ClinVar |
| 15 | g.48446759A= | CA2175495103 | FBN1 | c.5735T= (p.Phe1912=) n.4409T= c.734T= (p.Phe245=) c.*1498T= (n.*1498T=) c.1042T= | |
| 15 | g.48446759A>C | CA392341226 | FBN1 | c.5735T>G (p.Phe1912Cys) n.4409T>G c.734T>G (p.Phe245Cys) c.*1498T>G (n.*1498T>G) c.1042T>G | ClinVar dbSNP |
| 15 | g.48446759A>G | CA392341229 | FBN1 | c.5735T>C (p.Phe1912Ser) n.4409T>C c.734T>C (p.Phe245Ser) c.*1498T>C (n.*1498T>C) c.1042T>C | ClinVar dbSNP |
| 15 | g.48446759A>T | CA392341231 | FBN1 | c.5735T>A (p.Phe1912Tyr) n.4409T>A c.734T>A (p.Phe245Tyr) c.*1498T>A (n.*1498T>A) c.1042T>A | |
| 15 | g.48446760del | CA16619950 | FBN1 | c.5735del (p.Phe1912SerfsTer18) n.4409del c.734del (p.Phe245SerfsTer18) c.*1498del (n.*1498del) c.1042del | ClinVar dbSNP |
| 15 | g.48446760A>C | CA392341233 | FBN1 | c.5734T>G (p.Phe1912Val) n.4408T>G c.733T>G (p.Phe245Val) c.*1497T>G (n.*1497T>G) c.1041T>G | |
| 15 | g.48446760A>G | CA392341234 | FBN1 | c.5734T>C (p.Phe1912Leu) n.4408T>C c.733T>C (p.Phe245Leu) c.*1497T>C (n.*1497T>C) c.1041T>C | ClinVar dbSNP |
| 15 | g.48446760A>T | CA392341236 | FBN1 | c.5734T>A (p.Phe1912Ile) n.4408T>A c.733T>A (p.Phe245Ile) c.*1497T>A (n.*1497T>A) c.1041T>A | |
| 15 | g.48446761G>A | CA490022991 | FBN1 | c.5733C>T (p.Ser1911=) n.4407C>T c.732C>T (p.Ser244=) c.*1496C>T (n.*1496C>T) c.1040C>T | |
| 15 | g.48446761G>C | CA490022989 | FBN1 | c.5733C>G (p.Ser1911=) n.4407C>G c.732C>G (p.Ser244=) c.*1496C>G (n.*1496C>G) c.1040C>G | |
| 15 | g.48446761G>T | CA490022990 | FBN1 | c.5733C>A (p.Ser1911=) n.4407C>A c.732C>A (p.Ser244=) c.*1496C>A (n.*1496C>A) c.1040C>A | |
| 15 | g.48446762G>A | CA392341238 | FBN1 | c.5732C>T (p.Ser1911Phe) n.4406C>T c.731C>T (p.Ser244Phe) c.*1495C>T (n.*1495C>T) c.1039C>T | COSMIC |
| 15 | g.48446762G>C | CA392341242 | FBN1 | c.5732C>G (p.Ser1911Cys) n.4406C>G c.731C>G (p.Ser244Cys) c.*1495C>G (n.*1495C>G) c.1039C>G | |
| 15 | g.48446762G>T | CA392341240 | FBN1 | c.5732C>A (p.Ser1911Tyr) n.4406C>A c.731C>A (p.Ser244Tyr) c.*1495C>A (n.*1495C>A) c.1039C>A | |
| 15 | g.48446763A>C | CA392341244 | FBN1 | c.5731T>G (p.Ser1911Ala) n.4405T>G c.730T>G (p.Ser244Ala) c.*1494T>G (n.*1494T>G) c.1038T>G | |
| 15 | g.48446763A>G | CA392341246 | FBN1 | c.5731T>C (p.Ser1911Pro) n.4405T>C c.730T>C (p.Ser244Pro) c.*1494T>C (n.*1494T>C) c.1038T>C | |
| 15 | g.48446763A>T | CA392341248 | FBN1 | c.5731T>A (p.Ser1911Thr) n.4405T>A c.730T>A (p.Ser244Thr) c.*1494T>A (n.*1494T>A) c.1038T>A | |
| 15 | g.48446764A>C | CA490022992 | FBN1 | c.5730T>G (p.Gly1910=) n.4404T>G c.729T>G (p.Gly243=) c.*1493T>G (n.*1493T>G) c.1037T>G | |
| 15 | g.48446764A>G | CA490022993 | FBN1 | c.5730T>C (p.Gly1910=) n.4404T>C c.729T>C (p.Gly243=) c.*1493T>C (n.*1493T>C) c.1037T>C | |
| 15 | g.48446764A>T | CA490022994 | FBN1 | c.5730T>A (p.Gly1910=) n.4404T>A c.729T>A (p.Gly243=) c.*1493T>A (n.*1493T>A) c.1037T>A | |
| 15 | g.48446765C>A | CA392341250 | FBN1 | c.5729G>T (p.Gly1910Val) n.4403G>T c.728G>T (p.Gly243Val) c.*1492G>T (n.*1492G>T) c.1036G>T | ClinVar |
| 15 | g.48446765C= | CA2175495113 | FBN1 | c.5729G= (p.Gly1910=) n.4403G= c.728G= (p.Gly243=) c.*1492G= (n.*1492G=) c.1036G= | |
| 15 | g.48446765C>G | CA392341251 | FBN1 | c.5729G>C (p.Gly1910Ala) n.4403G>C c.728G>C (p.Gly243Ala) c.*1492G>C (n.*1492G>C) c.1036G>C | |
| 15 | g.48446765C>T | CA392341252 | FBN1 | c.5729G>A (p.Gly1910Asp) n.4403G>A c.728G>A (p.Gly243Asp) c.*1492G>A (n.*1492G>A) c.1036G>A | ClinVar dbSNP |
| 15 | g.48446766C>A | CA392341254 | FBN1 | c.5728G>T (p.Gly1910Cys) n.4402G>T c.727G>T (p.Gly243Cys) c.*1491G>T (n.*1491G>T) c.1035G>T | ClinVar dbSNP |
| 15 | g.48446766C= | CA2175495121 | FBN1 | c.5728G= (p.Gly1910=) n.4402G= c.727G= (p.Gly243=) c.*1491G= (n.*1491G=) c.1035G= | |
| 15 | g.48446766C>G | CA392341256 | FBN1 | c.5728G>C (p.Gly1910Arg) n.4402G>C c.727G>C (p.Gly243Arg) c.*1491G>C (n.*1491G>C) c.1035G>C | |
| 15 | g.48446766C>T | CA392341258 | FBN1 | c.5728G>A (p.Gly1910Ser) n.4402G>A c.727G>A (p.Gly243Ser) c.*1491G>A (n.*1491G>A) c.1035G>A | |
| 15 | g.48446767A>C | CA392341260 | FBN1 | c.5727T>G (p.Ile1909Met) n.4401T>G c.726T>G (p.Ile242Met) c.*1490T>G (n.*1490T>G) c.1034T>G | |
| 15 | g.48446767A>G | CA490022995 | FBN1 | c.5727T>C (p.Ile1909=) n.4401T>C c.726T>C (p.Ile242=) c.*1490T>C (n.*1490T>C) c.1034T>C | |
| 15 | g.48446767A>T | CA490022996 | FBN1 | c.5727T>A (p.Ile1909=) n.4401T>A c.726T>A (p.Ile242=) c.*1490T>A (n.*1490T>A) c.1034T>A | |
| 15 | g.48446768A= | CA2175495127 | FBN1 | c.5726T= (p.Ile1909=) n.4400T= c.725T= (p.Ile242=) c.*1489T= (n.*1489T=) c.1033T= | |
| 15 | g.48446768A>C | CA392341263 | FBN1 | c.5726T>G (p.Ile1909Ser) n.4400T>G c.725T>G (p.Ile242Ser) c.*1489T>G (n.*1489T>G) c.1033T>G | |
| 15 | g.48446768A>G | CA016007 | FBN1 | c.5726T>C (p.Ile1909Thr) n.4400T>C c.725T>C (p.Ile242Thr) c.*1489T>C (n.*1489T>C) c.1033T>C | ClinVar dbSNP COSMIC |
| 15 | g.48446768A>T | CA392341264 | FBN1 | c.5726T>A (p.Ile1909Asn) n.4400T>A c.725T>A (p.Ile242Asn) c.*1489T>A (n.*1489T>A) c.1033T>A | |
| 15 | g.48446769T>A | CA392341268 | FBN1 | c.5725A>T (p.Ile1909Phe) n.4399A>T c.724A>T (p.Ile242Phe) c.*1488A>T (n.*1488A>T) c.1032A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446769T>C | CA269533742 | FBN1 | c.5725A>G (p.Ile1909Val) n.4399A>G c.724A>G (p.Ile242Val) c.*1488A>G (n.*1488A>G) c.1032A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446769T>G | CA10587810 | FBN1 | c.5725A>C (p.Ile1909Leu) n.4399A>C c.724A>C (p.Ile242Leu) c.*1488A>C (n.*1488A>C) c.1032A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48446769T= | CA2175495137 | FBN1 | c.5725A= (p.Ile1909=) n.4399A= c.724A= (p.Ile242=) c.*1488A= (n.*1488A=) c.1032A= | |
| 15 | g.48446770T>A | CA490022997 | FBN1 | c.5724A>T (p.Thr1908=) n.4398A>T c.723A>T (p.Thr241=) c.*1487A>T (n.*1487A>T) c.1031A>T | |
| 15 | g.48446770T>C | CA055450 | FBN1 | c.5724A>G (p.Thr1908=) n.4398A>G c.723A>G (p.Thr241=) c.*1487A>G (n.*1487A>G) c.1031A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446770T>G | CA490022998 | FBN1 | c.5724A>C (p.Thr1908=) n.4398A>C c.723A>C (p.Thr241=) c.*1487A>C (n.*1487A>C) c.1031A>C | |
| 15 | g.48446770T= | CA2175495181 | FBN1 | c.5724A= (p.Thr1908=) n.4398A= c.723A= (p.Thr241=) c.*1487A= (n.*1487A=) c.1031A= | |
| 15 | g.48446771G>A | CA392341272 | FBN1 | c.5723C>T (p.Thr1908Ile) n.4397C>T c.722C>T (p.Thr241Ile) c.*1486C>T (n.*1486C>T) c.1030C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446771G>C | CA392341273 | FBN1 | c.5723C>G (p.Thr1908Arg) n.4397C>G c.722C>G (p.Thr241Arg) c.*1486C>G (n.*1486C>G) c.1030C>G | COSMIC |
| 15 | g.48446771G= | CA2175495195 | FBN1 | c.5723C= (p.Thr1908=) n.4397C= c.722C= (p.Thr241=) c.*1486C= (n.*1486C=) c.1030C= | |
| 15 | g.48446771G>T | CA392341275 | FBN1 | c.5723C>A (p.Thr1908Lys) n.4397C>A c.722C>A (p.Thr241Lys) c.*1486C>A (n.*1486C>A) c.1030C>A | |
| 15 | g.48446772del | CA2695220263 | FBN1 | c.5722del (p.Thr1908GlnfsTer22) n.4396del c.721del (p.Thr241GlnfsTer22) c.*1485del (n.*1485del) c.1029del | |
| 15 | g.48446772T>A | CA392341278 | FBN1 | c.5722A>T (p.Thr1908Ser) n.4396A>T c.721A>T (p.Thr241Ser) c.*1485A>T (n.*1485A>T) c.1029A>T | |
| 15 | g.48446772T>C | CA392341279 | FBN1 | c.5722A>G (p.Thr1908Ala) n.4396A>G c.721A>G (p.Thr241Ala) c.*1485A>G (n.*1485A>G) c.1029A>G | |
| 15 | g.48446772T>G | CA392341281 | FBN1 | c.5722A>C (p.Thr1908Pro) n.4396A>C c.721A>C (p.Thr241Pro) c.*1485A>C (n.*1485A>C) c.1029A>C | ClinVar dbSNP |
| 15 | g.48446772T= | CA2175495203 | FBN1 | c.5722A= (p.Thr1908=) n.4396A= c.721A= (p.Thr241=) c.*1485A= (n.*1485A=) c.1029A= | |
| 15 | g.48446773G>A | CA490022999 | FBN1 | c.5721C>T (p.Asn1907=) n.4395C>T c.720C>T (p.Asn240=) c.*1484C>T (n.*1484C>T) c.1028C>T | dbSNP |
| 15 | g.48446773G>C | CA015998 | FBN1 | c.5721C>G (p.Asn1907Lys) n.4395C>G c.720C>G (p.Asn240Lys) c.*1484C>G (n.*1484C>G) c.1028C>G | ClinVar dbSNP |
| 15 | g.48446773G= | CA2175495215 | FBN1 | c.5721C= (p.Asn1907=) n.4395C= c.720C= (p.Asn240=) c.*1484C= (n.*1484C=) c.1028C= | |
| 15 | g.48446773G>T | CA392341284 | FBN1 | c.5721C>A (p.Asn1907Lys) n.4395C>A c.720C>A (p.Asn240Lys) c.*1484C>A (n.*1484C>A) c.1028C>A | |
| 15 | g.48446773_48446774delinsGT | CA2175495226 | FBN1 | c.5720_5721delinsAC (p.Asn1907=) n.4394_4395delinsAC c.719_720delinsAC (p.Asn240=) c.*1483_*1484delinsAC (n.*1483_*1484delinsAC) c.1027_1028delinsAC | |
| 15 | g.48446774T>A | CA392341287 | FBN1 | c.5720A>T (p.Asn1907Ile) n.4394A>T c.719A>T (p.Asn240Ile) c.*1483A>T (n.*1483A>T) c.1027A>T | |
| 15 | g.48446774T>C | CA16614507 | FBN1 | c.5720A>G (p.Asn1907Ser) n.4394A>G c.719A>G (p.Asn240Ser) c.*1483A>G (n.*1483A>G) c.1027A>G | ClinVar dbSNP |
| 15 | g.48446774T>G | CA392341288 | FBN1 | c.5720A>C (p.Asn1907Thr) n.4394A>C c.719A>C (p.Asn240Thr) c.*1483A>C (n.*1483A>C) c.1027A>C | |
| 15 | g.48446774T= | CA2175495239 | FBN1 | c.5720A= (p.Asn1907=) n.4394A= c.719A= (p.Asn240=) c.*1483A= (n.*1483A=) c.1027A= | |
| 15 | g.48446775del | CA10587809 | FBN1 | c.5720del (p.Asn1907ThrfsTer23) n.4394del c.719del (p.Asn240ThrfsTer23) c.*1483del (n.*1483del) c.1027del | ClinVar dbSNP |
| 15 | g.48446775T>A | CA392341292 | FBN1 | c.5719A>T (p.Asn1907Tyr) n.4393A>T c.718A>T (p.Asn240Tyr) c.*1482A>T (n.*1482A>T) c.1026A>T | |
| 15 | g.48446775T>C | CA015987 | FBN1 | c.5719A>G (p.Asn1907Asp) n.4393A>G c.718A>G (p.Asn240Asp) c.*1482A>G (n.*1482A>G) c.1026A>G | ClinVar dbSNP |
| 15 | g.48446775T>G | CA392341290 | FBN1 | c.5719A>C (p.Asn1907His) n.4393A>C c.718A>C (p.Asn240His) c.*1482A>C (n.*1482A>C) c.1026A>C | |
| 15 | g.48446775T= | CA2175495250 | FBN1 | c.5719A= (p.Asn1907=) n.4393A= c.718A= (p.Asn240=) c.*1482A= (n.*1482A=) c.1026A= | |
| 15 | g.48446776C>A | CA490023000 | FBN1 | c.5718G>T (p.Arg1906=) n.4392G>T c.717G>T (p.Arg239=) c.*1481G>T (n.*1481G>T) c.1025G>T | |
| 15 | g.48446776C= | CA2175495252 | FBN1 | c.5718G= (p.Arg1906=) n.4392G= c.717G= (p.Arg239=) c.*1481G= (n.*1481G=) c.1025G= | |
| 15 | g.48446776C>G | CA490023001 | FBN1 | c.5718G>C (p.Arg1906=) n.4392G>C c.717G>C (p.Arg239=) c.*1481G>C (n.*1481G>C) c.1025G>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.48446776C>T | CA490023002 | FBN1 | c.5718G>A (p.Arg1906=) n.4392G>A c.717G>A (p.Arg239=) c.*1481G>A (n.*1481G>A) c.1025G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446777del | CA2695220265 | FBN1 | c.5718del (p.Asn1907ThrfsTer23) n.4392del c.717del (p.Asn240ThrfsTer23) c.*1481del (n.*1481del) c.1025del | |
| 15 | g.48446777C>A | CA392341294 | FBN1 | c.5717G>T (p.Arg1906Leu) n.4391G>T c.716G>T (p.Arg239Leu) c.*1480G>T (n.*1480G>T) c.1024G>T | |
| 15 | g.48446777C= | CA2175495269 | FBN1 | c.5717G= (p.Arg1906=) n.4391G= c.716G= (p.Arg239=) c.*1480G= (n.*1480G=) c.1024G= | |
| 15 | g.48446777C>G | CA392341295 | FBN1 | c.5717G>C (p.Arg1906Pro) n.4391G>C c.716G>C (p.Arg239Pro) c.*1480G>C (n.*1480G>C) c.1024G>C | |
| 15 | g.48446777C>T | CA055444 | FBN1 | c.5717G>A (p.Arg1906Gln) n.4391G>A c.716G>A (p.Arg239Gln) c.*1480G>A (n.*1480G>A) c.1024G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48446778G>A | CA055439 | FBN1 | c.5716C>T (p.Arg1906Trp) n.4390C>T c.715C>T (p.Arg239Trp) c.*1479C>T (n.*1479C>T) c.1023C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446778G>C | CA392341300 | FBN1 | c.5716C>G (p.Arg1906Gly) n.4390C>G c.715C>G (p.Arg239Gly) c.*1479C>G (n.*1479C>G) c.1023C>G | ClinVar dbSNP |
| 15 | g.48446778G= | CA2175495273 | FBN1 | c.5716C= (p.Arg1906=) n.4390C= c.715C= (p.Arg239=) c.*1479C= (n.*1479C=) c.1023C= | |
| 15 | g.48446778G>T | CA490023003 | FBN1 | c.5716C>A (p.Arg1906=) n.4390C>A c.715C>A (p.Arg239=) c.*1479C>A (n.*1479C>A) c.1023C>A | |
| 15 | g.48446779del | CA2499222980 | FBN1 | c.5716del (p.Arg1906GlyfsTer24) n.4390del c.715del (p.Arg239GlyfsTer24) c.*1479del (n.*1479del) c.1023del | ClinVar dbSNP |
| 15 | g.48446779G>A | CA490023004 | FBN1 | c.5715C>T (p.Cys1905=) n.4389C>T c.714C>T (p.Cys238=) c.*1478C>T (n.*1478C>T) c.1022C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446779G>C | CA392341302 | FBN1 | c.5715C>G (p.Cys1905Trp) n.4389C>G c.714C>G (p.Cys238Trp) c.*1478C>G (n.*1478C>G) c.1022C>G | |
| 15 | g.48446779G= | CA2175495281 | FBN1 | c.5715C= (p.Cys1905=) n.4389C= c.714C= (p.Cys238=) c.*1478C= (n.*1478C=) c.1022C= | |
| 15 | g.48446779G>T | CA392341303 | FBN1 | c.5715C>A (p.Cys1905Ter) n.4389C>A c.714C>A (p.Cys238Ter) c.*1478C>A (n.*1478C>A) c.1022C>A | |
| 15 | g.48446780C>A | CA392341306 | FBN1 | c.5714G>T (p.Cys1905Phe) n.4388G>T c.713G>T (p.Cys238Phe) c.*1477G>T (n.*1477G>T) c.1021G>T | ClinVar |
| 15 | g.48446780C= | CA2175495287 | FBN1 | c.5714G= (p.Cys1905=) n.4388G= c.713G= (p.Cys238=) c.*1477G= (n.*1477G=) c.1021G= | |
| 15 | g.48446780C>G | CA269533790 | FBN1 | c.5714G>C (p.Cys1905Ser) n.4388G>C c.713G>C (p.Cys238Ser) c.*1477G>C (n.*1477G>C) c.1021G>C | ClinVar dbSNP |
| 15 | g.48446780C>T | CA392341308 | FBN1 | c.5714G>A (p.Cys1905Tyr) n.4388G>A c.713G>A (p.Cys238Tyr) c.*1477G>A (n.*1477G>A) c.1021G>A | |
| 15 | g.48446781A>C | CA392341309 | FBN1 | c.5713T>G (p.Cys1905Gly) n.4387T>G c.712T>G (p.Cys238Gly) c.*1476T>G (n.*1476T>G) c.1020T>G | |
| 15 | g.48446781A>G | CA392341312 | FBN1 | c.5713T>C (p.Cys1905Arg) n.4387T>C c.712T>C (p.Cys238Arg) c.*1476T>C (n.*1476T>C) c.1020T>C | |
| 15 | g.48446781A>T | CA392341314 | FBN1 | c.5713T>A (p.Cys1905Ser) n.4387T>A c.712T>A (p.Cys238Ser) c.*1476T>A (n.*1476T>A) c.1020T>A | |
| 15 | g.48446782A>C | CA490023007 | FBN1 | c.5712T>G (p.Thr1904=) n.4386T>G c.711T>G (p.Thr237=) c.*1475T>G (n.*1475T>G) c.1019T>G | |
| 15 | g.48446782A>G | CA490023005 | FBN1 | c.5712T>C (p.Thr1904=) n.4386T>C c.711T>C (p.Thr237=) c.*1475T>C (n.*1475T>C) c.1019T>C | |
| 15 | g.48446782A>T | CA490023006 | FBN1 | c.5712T>A (p.Thr1904=) n.4386T>A c.711T>A (p.Thr237=) c.*1475T>A (n.*1475T>A) c.1019T>A | |
| 15 | g.48446783G>A | CA392341317 | FBN1 | c.5711C>T (p.Thr1904Ile) n.4385C>T c.710C>T (p.Thr237Ile) c.*1474C>T (n.*1474C>T) c.1018C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446783G>C | CA392341319 | FBN1 | c.5711C>G (p.Thr1904Ser) n.4385C>G c.710C>G (p.Thr237Ser) c.*1474C>G (n.*1474C>G) c.1018C>G | |
| 15 | g.48446783G= | CA2175495289 | FBN1 | c.5711C= (p.Thr1904=) n.4385C= c.710C= (p.Thr237=) c.*1474C= (n.*1474C=) c.1018C= | |
| 15 | g.48446783G>T | CA392341315 | FBN1 | c.5711C>A (p.Thr1904Asn) n.4385C>A c.710C>A (p.Thr237Asn) c.*1474C>A (n.*1474C>A) c.1018C>A | |
| 15 | g.48446784T>A | CA392341321 | FBN1 | c.5710A>T (p.Thr1904Ser) n.4384A>T c.709A>T (p.Thr237Ser) c.*1473A>T (n.*1473A>T) c.1017A>T | |
| 15 | g.48446784T>C | CA392341323 | FBN1 | c.5710A>G (p.Thr1904Ala) n.4384A>G c.709A>G (p.Thr237Ala) c.*1473A>G (n.*1473A>G) c.1017A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446784T>G | CA392341325 | FBN1 | c.5710A>C (p.Thr1904Pro) n.4384A>C c.709A>C (p.Thr237Pro) c.*1473A>C (n.*1473A>C) c.1017A>C | |
| 15 | g.48446784T= | CA2175495296 | FBN1 | c.5710A= (p.Thr1904=) n.4384A= c.709A= (p.Thr237=) c.*1473A= (n.*1473A=) c.1017A= | |
| 15 | g.48446785T>A | CA490023008 | FBN1 | c.5709A>T (p.Gly1903=) n.4383A>T c.708A>T (p.Gly236=) c.*1472A>T (n.*1472A>T) c.1016A>T | |
| 15 | g.48446785T>C | CA490023009 | FBN1 | c.5709A>G (p.Gly1903=) n.4383A>G c.708A>G (p.Gly236=) c.*1472A>G (n.*1472A>G) c.1016A>G | |
| 15 | g.48446785T>G | CA490023010 | FBN1 | c.5709A>C (p.Gly1903=) n.4383A>C c.708A>C (p.Gly236=) c.*1472A>C (n.*1472A>C) c.1016A>C | |
| 15 | g.48446786C>A | CA392341327 | FBN1 | c.5708G>T (p.Gly1903Val) n.4382G>T c.707G>T (p.Gly236Val) c.*1471G>T (n.*1471G>T) c.1015G>T | |
| 15 | g.48446786C>G | CA392341328 | FBN1 | c.5708G>C (p.Gly1903Ala) n.4382G>C c.707G>C (p.Gly236Ala) c.*1471G>C (n.*1471G>C) c.1015G>C | |
| 15 | g.48446786C>T | CA392341330 | FBN1 | c.5708G>A (p.Gly1903Glu) n.4382G>A c.707G>A (p.Gly236Glu) c.*1471G>A (n.*1471G>A) c.1015G>A | |
| 15 | g.48446787C>A | CA392341332 | FBN1 | c.5707G>T (p.Gly1903Ter) n.4381G>T c.706G>T (p.Gly236Ter) c.*1470G>T (n.*1470G>T) c.1014G>T | |
| 15 | g.48446787C>G | CA392341334 | FBN1 | c.5707G>C (p.Gly1903Arg) n.4381G>C c.706G>C (p.Gly236Arg) c.*1470G>C (n.*1470G>C) c.1014G>C | |
| 15 | g.48446787C>T | CA392341335 | FBN1 | c.5707G>A (p.Gly1903Arg) n.4381G>A c.706G>A (p.Gly236Arg) c.*1470G>A (n.*1470G>A) c.1014G>A | |
| 15 | g.48446788A= | CA2175495303 | FBN1 | c.5706T= (p.Asn1902=) n.4380T= c.705T= (p.Asn235=) c.*1469T= (n.*1469T=) c.1013T= | |
| 15 | g.48446788A>C | CA392341337 | FBN1 | c.5706T>G (p.Asn1902Lys) n.4380T>G c.705T>G (p.Asn235Lys) c.*1469T>G (n.*1469T>G) c.1013T>G | |
| 15 | g.48446788A>G | CA490023011 | FBN1 | c.5706T>C (p.Asn1902=) n.4380T>C c.705T>C (p.Asn235=) c.*1469T>C (n.*1469T>C) c.1013T>C | ClinVar dbSNP |
| 15 | g.48446788A>T | CA392341338 | FBN1 | c.5706T>A (p.Asn1902Lys) n.4380T>A c.705T>A (p.Asn235Lys) c.*1469T>A (n.*1469T>A) c.1013T>A | |
| 15 | g.48446789T>A | CA392341343 | FBN1 | c.5705A>T (p.Asn1902Ile) n.4379A>T c.704A>T (p.Asn235Ile) c.*1468A>T (n.*1468A>T) c.1012A>T | |
| 15 | g.48446789T>C | CA392341342 | FBN1 | c.5705A>G (p.Asn1902Ser) n.4379A>G c.704A>G (p.Asn235Ser) c.*1468A>G (n.*1468A>G) c.1012A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446789T>G | CA392341340 | FBN1 | c.5705A>C (p.Asn1902Thr) n.4379A>C c.704A>C (p.Asn235Thr) c.*1468A>C (n.*1468A>C) c.1012A>C | |
| 15 | g.48446789T= | CA2175495310 | FBN1 | c.5705A= (p.Asn1902=) n.4379A= c.704A= (p.Asn235=) c.*1468A= (n.*1468A=) c.1012A= | |
| 15 | g.48446790T>A | CA392341346 | FBN1 | c.5704A>T (p.Asn1902Tyr) n.4378A>T c.703A>T (p.Asn235Tyr) c.*1467A>T (n.*1467A>T) c.1011A>T | |
| 15 | g.48446790T>C | CA392341347 | FBN1 | c.5704A>G (p.Asn1902Asp) n.4378A>G c.703A>G (p.Asn235Asp) c.*1467A>G (n.*1467A>G) c.1011A>G | |
| 15 | g.48446790T>G | CA392341349 | FBN1 | c.5704A>C (p.Asn1902His) n.4378A>C c.703A>C (p.Asn235His) c.*1467A>C (n.*1467A>C) c.1011A>C | |
| 15 | g.48446791C>A | CA490023012 | FBN1 | c.5703G>T (p.Gly1901=) n.4377G>T c.702G>T (p.Gly234=) c.*1466G>T (n.*1466G>T) c.1010G>T | dbSNP |
| 15 | g.48446791C= | CA2175495314 | FBN1 | c.5703G= (p.Gly1901=) n.4377G= c.702G= (p.Gly234=) c.*1466G= (n.*1466G=) c.1010G= | |
| 15 | g.48446791C>G | CA490023013 | FBN1 | c.5703G>C (p.Gly1901=) n.4377G>C c.702G>C (p.Gly234=) c.*1466G>C (n.*1466G>C) c.1010G>C | gnomAD v4 |
| 15 | g.48446791C>T | CA490023014 | FBN1 | c.5703G>A (p.Gly1901=) n.4377G>A c.702G>A (p.Gly234=) c.*1466G>A (n.*1466G>A) c.1010G>A | |
| 15 | g.48446793del | CA2580089695 | FBN1 | c.5703del (p.Asn1902MetfsTer28) n.4377del c.702del (p.Asn235MetfsTer28) c.*1466del (n.*1466del) c.1010del | ClinVar gnomAD v4 |
| 15 | g.48446792C>A | CA392341351 | FBN1 | c.5702G>T (p.Gly1901Val) n.4376G>T c.701G>T (p.Gly234Val) c.*1465G>T (n.*1465G>T) c.1009G>T | |
| 15 | g.48446792C>G | CA392341352 | FBN1 | c.5702G>C (p.Gly1901Ala) n.4376G>C c.701G>C (p.Gly234Ala) c.*1465G>C (n.*1465G>C) c.1009G>C | |
| 15 | g.48446792C>T | CA392341353 | FBN1 | c.5702G>A (p.Gly1901Glu) n.4376G>A c.701G>A (p.Gly234Glu) c.*1465G>A (n.*1465G>A) c.1009G>A | |
| 15 | g.48446793C>A | CA392341354 | FBN1 | c.5701G>T (p.Gly1901Trp) n.4375G>T c.700G>T (p.Gly234Trp) c.*1464G>T (n.*1464G>T) c.1008G>T | |
| 15 | g.48446793C>G | CA392341357 | FBN1 | c.5701G>C (p.Gly1901Arg) n.4375G>C c.700G>C (p.Gly234Arg) c.*1464G>C (n.*1464G>C) c.1008G>C | |
| 15 | g.48446793C>T | CA392341358 | FBN1 | c.5701G>A (p.Gly1901Arg) n.4375G>A c.700G>A (p.Gly234Arg) c.*1464G>A (n.*1464G>A) c.1008G>A | |
| 15 | g.48446794A= | CA2175495320 | FBN1 | c.5700T= (p.Cys1900=) n.4374T= c.699T= (p.Cys233=) c.*1463T= (n.*1463T=) c.1007T= | |
| 15 | g.48446794A>C | CA392341360 | FBN1 | c.5700T>G (p.Cys1900Trp) n.4374T>G c.699T>G (p.Cys233Trp) c.*1463T>G (n.*1463T>G) c.1007T>G | ClinVar |
| 15 | g.48446794A>G | CA490023015 | FBN1 | c.5700T>C (p.Cys1900=) n.4374T>C c.699T>C (p.Cys233=) c.*1463T>C (n.*1463T>C) c.1007T>C | |
| 15 | g.48446794A>T | CA015978 | FBN1 | c.5700T>A (p.Cys1900Ter) n.4374T>A c.699T>A (p.Cys233Ter) c.*1463T>A (n.*1463T>A) c.1007T>A | ClinVar dbSNP |
| 15 | g.48446795C>A | CA392341366 | FBN1 | c.5699G>T (p.Cys1900Phe) n.4373G>T c.698G>T (p.Cys233Phe) c.*1462G>T (n.*1462G>T) c.1006G>T | ClinVar dbSNP |
| 15 | g.48446795C= | CA2175495324 | FBN1 | c.5699G= (p.Cys1900=) n.4373G= c.698G= (p.Cys233=) c.*1462G= (n.*1462G=) c.1006G= | |
| 15 | g.48446795C>G | CA392341364 | FBN1 | c.5699G>C (p.Cys1900Ser) n.4373G>C c.698G>C (p.Cys233Ser) c.*1462G>C (n.*1462G>C) c.1006G>C | |
| 15 | g.48446795C>T | CA015955 | FBN1 | c.5699G>A (p.Cys1900Tyr) n.4373G>A c.698G>A (p.Cys233Tyr) c.*1462G>A (n.*1462G>A) c.1006G>A | ClinVar dbSNP |
| 15 | g.48446796A= | CA2175495336 | FBN1 | c.5698T= (p.Cys1900=) n.4372T= c.697T= (p.Cys233=) c.*1461T= (n.*1461T=) c.1005T= | |
| 15 | g.48446796A>C | CA392341367 | FBN1 | c.5698T>G (p.Cys1900Gly) n.4372T>G c.697T>G (p.Cys233Gly) c.*1461T>G (n.*1461T>G) c.1005T>G | |
| 15 | g.48446796A>G | CA392341371 | FBN1 | c.5698T>C (p.Cys1900Arg) n.4372T>C c.697T>C (p.Cys233Arg) c.*1461T>C (n.*1461T>C) c.1005T>C | ClinVar |
| 15 | g.48446796A>T | CA392341369 | FBN1 | c.5698T>A (p.Cys1900Ser) n.4372T>A c.697T>A (p.Cys233Ser) c.*1461T>A (n.*1461T>A) c.1005T>A | ClinVar dbSNP |
| 15 | g.48446797G>A | CA055434 | FBN1 | c.5697C>T (p.Ala1899=) n.4371C>T c.696C>T (p.Ala232=) c.*1460C>T (n.*1460C>T) c.1004C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446797G>C | CA490023016 | FBN1 | c.5697C>G (p.Ala1899=) n.4371C>G c.696C>G (p.Ala232=) c.*1460C>G (n.*1460C>G) c.1004C>G | |
| 15 | g.48446797G= | CA2175495346 | FBN1 | c.5697C= (p.Ala1899=) n.4371C= c.696C= (p.Ala232=) c.*1460C= (n.*1460C=) c.1004C= | |
| 15 | g.48446797G>T | CA490023017 | FBN1 | c.5697C>A (p.Ala1899=) n.4371C>A c.696C>A (p.Ala232=) c.*1460C>A (n.*1460C>A) c.1004C>A | |
| 15 | g.48446798G>A | CA392341374 | FBN1 | c.5696C>T (p.Ala1899Val) n.4370C>T c.695C>T (p.Ala232Val) c.*1459C>T (n.*1459C>T) c.1003C>T | dbSNP gnomAD v2 |
| 15 | g.48446798G>C | CA392341376 | FBN1 | c.5696C>G (p.Ala1899Gly) n.4370C>G c.695C>G (p.Ala232Gly) c.*1459C>G (n.*1459C>G) c.1003C>G | gnomAD v4 |
| 15 | g.48446798G= | CA2175495351 | FBN1 | c.5696C= (p.Ala1899=) n.4370C= c.695C= (p.Ala232=) c.*1459C= (n.*1459C=) c.1003C= | |
| 15 | g.48446798G>T | CA392341378 | FBN1 | c.5696C>A (p.Ala1899Asp) n.4370C>A c.695C>A (p.Ala232Asp) c.*1459C>A (n.*1459C>A) c.1003C>A | |
| 15 | g.48446798_48446799delinsGC | CA2175495355 | FBN1 | c.5695_5696delinsGC (p.Ala1899=) n.4369_4370delinsGC c.694_695delinsGC (p.Ala232=) c.*1458_*1459delinsGC (n.*1458_*1459delinsGC) c.1002_1003delinsGC | |
| 15 | g.48446799del | CA1139663932 | FBN1 | c.5695del (p.Ala1899ProfsTer?) n.4369del c.694del (p.Ala232ProfsTer?) c.*1458del (n.*1458del) c.1002del | ClinVar dbSNP |
| 15 | g.48446799C>A | CA392341380 | FBN1 | c.5695G>T (p.Ala1899Ser) n.4369G>T c.694G>T (p.Ala232Ser) c.*1458G>T (n.*1458G>T) c.1002G>T | |
| 15 | g.48446799C= | CA2175495369 | FBN1 | c.5695G= (p.Ala1899=) n.4369G= c.694G= (p.Ala232=) c.*1458G= (n.*1458G=) c.1002G= | |
| 15 | g.48446799C>G | CA392341382 | FBN1 | c.5695G>C (p.Ala1899Pro) n.4369G>C c.694G>C (p.Ala232Pro) c.*1458G>C (n.*1458G>C) c.1002G>C | |
| 15 | g.48446799C>T | CA392341383 | FBN1 | c.5695G>A (p.Ala1899Thr) n.4369G>A c.694G>A (p.Ala232Thr) c.*1458G>A (n.*1458G>A) c.1002G>A | dbSNP |
| 15 | g.48446800A>C | CA392341385 | FBN1 | c.5694T>G (p.Asp1898Glu) n.4368T>G c.693T>G (p.Asp231Glu) c.*1457T>G (n.*1457T>G) c.1001T>G | |
| 15 | g.48446800A>G | CA490023018 | FBN1 | c.5694T>C (p.Asp1898=) n.4368T>C c.693T>C (p.Asp231=) c.*1457T>C (n.*1457T>C) c.1001T>C | gnomAD v4 |
| 15 | g.48446800A>T | CA392341387 | FBN1 | c.5694T>A (p.Asp1898Glu) n.4368T>A c.693T>A (p.Asp231Glu) c.*1457T>A (n.*1457T>A) c.1001T>A | gnomAD v4 |
| 15 | g.48446801del | CA2695220268 | FBN1 | c.5693del (p.Asp1898ValfsTer?) n.4367del c.692del (p.Asp231ValfsTer?) c.*1456del (n.*1456del) c.1000del | |
| 15 | g.48446801T>A | CA392341389 | FBN1 | c.5693A>T (p.Asp1898Val) n.4367A>T c.692A>T (p.Asp231Val) c.*1456A>T (n.*1456A>T) c.1000A>T | |
| 15 | g.48446801T>C | CA055429 | FBN1 | c.5693A>G (p.Asp1898Gly) n.4367A>G c.692A>G (p.Asp231Gly) c.*1456A>G (n.*1456A>G) c.1000A>G | dbSNP ExAC gnomAD v2 |
| 15 | g.48446801T>G | CA392341391 | FBN1 | c.5693A>C (p.Asp1898Ala) n.4367A>C c.692A>C (p.Asp231Ala) c.*1456A>C (n.*1456A>C) c.1000A>C | |
| 15 | g.48446801T= | CA2175495373 | FBN1 | c.5693A= (p.Asp1898=) n.4367A= c.692A= (p.Asp231=) c.*1456A= (n.*1456A=) c.1000A= | |
| 15 | g.48446802C>A | CA392341393 | FBN1 | c.5692G>T (p.Asp1898Tyr) n.4366G>T c.691G>T (p.Asp231Tyr) c.*1455G>T (n.*1455G>T) c.999G>T | ClinVar gnomAD v4 |
| 15 | g.48446802C>G | CA392341397 | FBN1 | c.5692G>C (p.Asp1898His) n.4366G>C c.691G>C (p.Asp231His) c.*1455G>C (n.*1455G>C) c.999G>C | |
| 15 | g.48446802C>T | CA392341395 | FBN1 | c.5692G>A (p.Asp1898Asn) n.4366G>A c.691G>A (p.Asp231Asn) c.*1455G>A (n.*1455G>A) c.999G>A | |
| 15 | g.48446802_48446806delinsCTCTT | CA2175495380 | FBN1 | c.5688_5692delinsAAGAG (p.Glu1896=) n.4362_4366delinsAAGAG c.687_691delinsAAGAG (p.Glu229=) c.*1451_*1455delinsAAGAG (n.*1451_*1455delinsAAGAG) c.995_999delinsAAGAG | |
| 15 | g.48446803T>A | CA392341398 | FBN1 | c.5691A>T (p.Arg1897Ser) n.4365A>T c.690A>T (p.Arg230Ser) c.*1454A>T (n.*1454A>T) c.998A>T | |
| 15 | g.48446803T>C | CA490023019 | FBN1 | c.5691A>G (p.Arg1897=) n.4365A>G c.690A>G (p.Arg230=) c.*1454A>G (n.*1454A>G) c.998A>G | |
| 15 | g.48446803T>G | CA392341399 | FBN1 | c.5691A>C (p.Arg1897Ser) n.4365A>C c.690A>C (p.Arg230Ser) c.*1454A>C (n.*1454A>C) c.998A>C | |
| 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.48446804C>A | CA392341402 | FBN1 | c.5690G>T (p.Arg1897Ile) n.4364G>T c.689G>T (p.Arg230Ile) c.*1453G>T (n.*1453G>T) c.997G>T | |
| 15 | g.48446804C>G | CA392341403 | FBN1 | c.5690G>C (p.Arg1897Thr) n.4364G>C c.689G>C (p.Arg230Thr) c.*1453G>C (n.*1453G>C) c.997G>C | |
| 15 | g.48446804C>T | CA392341405 | FBN1 | c.5690G>A (p.Arg1897Lys) n.4364G>A c.689G>A (p.Arg230Lys) c.*1453G>A (n.*1453G>A) c.997G>A | |
| 15 | g.48446804_48446806delinsCTT | CA2175495385 | FBN1 | c.5688_5690delinsAAG (p.Glu1896=) n.4362_4364delinsAAG c.687_689delinsAAG (p.Glu229=) c.*1451_*1453delinsAAG (n.*1451_*1453delinsAAG) c.995_997delinsAAG | |
| 15 | g.48446805T>A | CA392341408 | FBN1 | c.5689A>T (p.Arg1897Ter) n.4363A>T c.688A>T (p.Arg230Ter) c.*1452A>T (n.*1452A>T) c.996A>T | |
| 15 | g.48446805T>C | CA392341409 | FBN1 | c.5689A>G (p.Arg1897Gly) n.4363A>G c.688A>G (p.Arg230Gly) c.*1452A>G (n.*1452A>G) c.996A>G | |
| 15 | g.48446805T>G | CA490023020 | FBN1 | c.5689A>C (p.Arg1897=) n.4363A>C c.688A>C (p.Arg230=) c.*1452A>C (n.*1452A>C) c.996A>C | gnomAD v4 |
| 15 | g.48446806_48446807del | CA658824296 | FBN1 | c.5688_5689del (p.Asp1898CysfsTer?) n.4362_4363del c.687_688del (p.Asp231CysfsTer?) c.*1451_*1452del (n.*1451_*1452del) c.995_996del | ClinVar dbSNP |
| 15 | g.48446806T>A | CA392341411 | FBN1 | c.5688A>T (p.Glu1896Asp) n.4362A>T c.687A>T (p.Glu229Asp) c.*1451A>T (n.*1451A>T) c.995A>T | |
| 15 | g.48446806T>C | CA490023021 | FBN1 | c.5688A>G (p.Glu1896=) n.4362A>G c.687A>G (p.Glu229=) c.*1451A>G (n.*1451A>G) c.995A>G | ClinVar |
| 15 | g.48446806T>G | CA392341413 | FBN1 | c.5688A>C (p.Glu1896Asp) n.4362A>C c.687A>C (p.Glu229Asp) c.*1451A>C (n.*1451A>C) c.995A>C | |
| 15 | g.48446807T>A | CA392341416 | FBN1 | c.5687A>T (p.Glu1896Val) n.4361A>T c.686A>T (p.Glu229Val) c.*1450A>T (n.*1450A>T) c.994A>T | |
| 15 | g.48446807T>C | CA392341417 | FBN1 | c.5687A>G (p.Glu1896Gly) n.4361A>G c.686A>G (p.Glu229Gly) c.*1450A>G (n.*1450A>G) c.994A>G | |
| 15 | g.48446807T>G | CA392341414 | FBN1 | c.5687A>C (p.Glu1896Ala) n.4361A>C c.686A>C (p.Glu229Ala) c.*1450A>C (n.*1450A>C) c.994A>C | |
| 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 |