Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | ClinVar 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 | ClinVar |
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 | |
15 | g.48446816T>A | CA392341444 | FBN1 | c.5678A>T (p.Asn1893Ile) n.4352A>T c.677A>T (p.Asn226Ile) c.*1441A>T (n.*1441A>T) c.985A>T | |
15 | g.48446816T>C | CA392341445 | FBN1 | c.5678A>G (p.Asn1893Ser) n.4352A>G c.677A>G (p.Asn226Ser) c.*1441A>G (n.*1441A>G) c.985A>G | ClinVar dbSNP gnomAD v4 |
15 | g.48446816T>G | CA392341446 | FBN1 | c.5678A>C (p.Asn1893Thr) n.4352A>C c.677A>C (p.Asn226Thr) c.*1441A>C (n.*1441A>C) c.985A>C | |
15 | g.48446816T= | CA2175495432 | FBN1 | c.5678A= (p.Asn1893=) n.4352A= c.677A= (p.Asn226=) c.*1441A= (n.*1441A=) c.985A= | |
15 | g.48446817T>A | CA392341447 | FBN1 | c.5677A>T (p.Asn1893Tyr) n.4351A>T c.676A>T (p.Asn226Tyr) c.*1440A>T (n.*1440A>T) c.984A>T | |
15 | g.48446817T>C | CA392341448 | FBN1 | c.5677A>G (p.Asn1893Asp) n.4351A>G c.676A>G (p.Asn226Asp) c.*1440A>G (n.*1440A>G) c.984A>G | |
15 | g.48446817T>G | CA392341449 | FBN1 | c.5677A>C (p.Asn1893His) n.4351A>C c.676A>C (p.Asn226His) c.*1440A>C (n.*1440A>C) c.984A>C | |
15 | g.48446817_48446819delinsTTA | CA2175495438 | FBN1 | c.5675_5677delinsTAA (p.Ile1892=) n.4349_4351delinsTAA c.674_676delinsTAA (p.Ile225=) c.*1438_*1440delinsTAA (n.*1438_*1440delinsTAA) c.982_984delinsTAA | |
15 | g.48446818T>A | CA490023026 | FBN1 | c.5676A>T (p.Ile1892=) n.4350A>T c.675A>T (p.Ile225=) c.*1439A>T (n.*1439A>T) c.983A>T | |
15 | g.48446818T>C | CA392341450 | FBN1 | c.5676A>G (p.Ile1892Met) n.4350A>G c.675A>G (p.Ile225Met) c.*1439A>G (n.*1439A>G) c.983A>G | dbSNP |
15 | g.48446818T>G | CA490023027 | FBN1 | c.5676A>C (p.Ile1892=) n.4350A>C c.675A>C (p.Ile225=) c.*1439A>C (n.*1439A>C) c.983A>C | |
15 | g.48446818T= | CA2175495447 | FBN1 | c.5676A= (p.Ile1892=) n.4350A= c.675A= (p.Ile225=) c.*1439A= (n.*1439A=) c.983A= | |
15 | g.48446819_48446820del | CA915945986 | FBN1 | c.5675_5676del (p.Ile1892LysfsTer2) n.4349_4350del c.674_675del (p.Ile225LysfsTer2) c.*1438_*1439del (n.*1438_*1439del) c.982_983del | ClinVar dbSNP |
15 | g.48446819A>C | CA392341453 | FBN1 | c.5675T>G (p.Ile1892Arg) n.4349T>G c.674T>G (p.Ile225Arg) c.*1438T>G (n.*1438T>G) c.982T>G | |
15 | g.48446819A>G | CA392341452 | FBN1 | c.5675T>C (p.Ile1892Thr) n.4349T>C c.674T>C (p.Ile225Thr) c.*1438T>C (n.*1438T>C) c.982T>C | gnomAD v4 |
15 | g.48446819A>T | CA392341451 | FBN1 | c.5675T>A (p.Ile1892Lys) n.4349T>A c.674T>A (p.Ile225Lys) c.*1438T>A (n.*1438T>A) c.982T>A | |
15 | g.48446820del | CA2580089702 | FBN1 | c.5674del (p.Ile1892Ter) n.4348del c.673del (p.Ile225Ter) c.*1437del (n.*1437del) c.981del | ClinVar |
15 | g.48446820T>A | CA392341454 | FBN1 | c.5674A>T (p.Ile1892Leu) n.4348A>T c.673A>T (p.Ile225Leu) c.*1437A>T (n.*1437A>T) c.981A>T | ClinVar dbSNP gnomAD v4 |
15 | g.48446820T>C | CA055412 | FBN1 | c.5674A>G (p.Ile1892Val) n.4348A>G c.673A>G (p.Ile225Val) c.*1437A>G (n.*1437A>G) c.981A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48446820T>G | CA392341455 | FBN1 | c.5674A>C (p.Ile1892Leu) n.4348A>C c.673A>C (p.Ile225Leu) c.*1437A>C (n.*1437A>C) c.981A>C | |
15 | g.48446820T= | CA2175495486 | FBN1 | c.5674A= (p.Ile1892=) n.4348A= c.673A= (p.Ile225=) c.*1437A= (n.*1437A=) c.981A= | |
15 | g.48446820_48446824delinsAGTCA | CA891844490 | FBN1 | c.5672-2_5674delinsTGACT n.4346-2_4348delinsTGACT c.671-2_673delinsTGACT c.*1435-2_*1437delinsTGACT c.979-2_981delinsTGACT | dbSNP |
15 | g.48446820_48446824delinsTGTCT | CA2175495462 | FBN1 | c.5672-2_5674delinsAGACA n.4346-2_4348delinsAGACA c.671-2_673delinsAGACA c.*1435-2_*1437delinsAGACA c.979-2_981delinsAGACA | |
15 | g.48446821G>A | CA490023028 | FBN1 | c.5673C>T (p.Asp1891=) n.4347C>T c.672C>T (p.Asp224=) c.*1436C>T (n.*1436C>T) c.980C>T | gnomAD v4 |
15 | g.48446821G>C | CA392341456 | FBN1 | c.5673C>G (p.Asp1891Glu) n.4347C>G c.672C>G (p.Asp224Glu) c.*1436C>G (n.*1436C>G) c.980C>G | |
15 | g.48446821G>T | CA392341457 | FBN1 | c.5673C>A (p.Asp1891Glu) n.4347C>A c.672C>A (p.Asp224Glu) c.*1436C>A (n.*1436C>A) c.980C>A | gnomAD v4 |
15 | g.48446822T>A | CA392341458 | FBN1 | c.5672A>T (p.Asp1891Val) n.4346A>T c.671A>T (p.Asp224Val) c.*1435A>T (n.*1435A>T) c.979A>T | |
15 | g.48446822T>C | CA392341459 | FBN1 | c.5672A>G (p.Asp1891Gly) n.4346A>G c.671A>G (p.Asp224Gly) c.*1435A>G (n.*1435A>G) c.979A>G | ClinVar dbSNP |
15 | g.48446822T>G | CA392341460 | FBN1 | c.5672A>C (p.Asp1891Ala) n.4346A>C c.671A>C (p.Asp224Ala) c.*1435A>C (n.*1435A>C) c.979A>C | |
15 | g.48446822T= | CA2175495497 | FBN1 | c.5672A= (p.Asp1891=) n.4346A= c.671A= (p.Asp224=) c.*1435A= (n.*1435A=) c.979A= | |
15 | g.48446823C>A | CA392341461 | FBN1 | c.5672-1G>T (n.5672-1G>T) n.4346-1G>T c.671-1G>T (n.671-1G>T) c.*1435-1G>T (n.*1435-1G>T) c.979-1G>T | |
15 | g.48446823C= | CA2175495503 | FBN1 | c.5672-1G= (n.5672-1G=) n.4346-1G= c.671-1G= (n.671-1G=) c.*1435-1G= (n.*1435-1G=) c.979-1G= | |
15 | g.48446823C>G | CA392341462 | FBN1 | c.5672-1G>C (n.5672-1G>C) n.4346-1G>C c.671-1G>C (n.671-1G>C) c.*1435-1G>C (n.*1435-1G>C) c.979-1G>C | ClinVar dbSNP |
15 | g.48446823C>T | CA392341463 | FBN1 | c.5672-1G>A (n.5672-1G>A) n.4346-1G>A c.671-1G>A (n.671-1G>A) c.*1435-1G>A (n.*1435-1G>A) c.979-1G>A | ClinVar dbSNP |
15 | g.48446823_48446824insCAAGCACA | CA2628347784 | FBN1 | c.5672-2_5672-1insTGTGCTTG (n.5672-2_5672-1insTGTGCTTG) n.4346-2_4346-1insTGTGCTTG c.671-2_671-1insTGTGCTTG (n.671-2_671-1insTGTGCTTG) c.*1435-2_*1435-1insTGTGCTTG (n.*1435-2_*1435-1insTGTGCTTG) c.979-2_979-1insTGTGCTTG | gnomAD v4 |
15 | g.48446823_48446824insCAAGCACATGGTTTGGTCATCAT | CA2628347783 | FBN1 | c.5672-2_5672-1insATGATGACCAAACCATGTGCTTG (n.5672-2_5672-1insATGATGACCAAACCATGTGCTTG) n.4346-2_4346-1insATGATGACCAAACCATGTGCTTG c.671-2_671-1insATGATGACCAAACCATGTGCTTG (n.671-2_671-1insATGATGACCAAACCATGTGCTTG) c.*1435-2_*1435-1insATGATGACCAAACCATGTGCTTG (n.*1435-2_*1435-1insATGATGACCAAACCATGTGCTTG) c.979-2_979-1insATGATGACCAAACCATGTGCTTG | gnomAD v4 |
15 | g.48446823_48446824insCAAGCACATGGTTTGGTCATCATTTGTTT | CA617837424 | FBN1 | c.5672-2_5672-1insAAACAAATGATGACCAAACCATGTGCTTG (n.5672-2_5672-1insAAACAAATGATGACCAAACCATGTGCTTG) n.4346-2_4346-1insAAACAAATGATGACCAAACCATGTGCTTG c.671-2_671-1insAAACAAATGATGACCAAACCATGTGCTTG (n.671-2_671-1insAAACAAATGATGACCAAACCATGTGCTTG) c.*1435-2_*1435-1insAAACAAATGATGACCAAACCATGTGCTTG (n.*1435-2_*1435-1insAAACAAATGATGACCAAACCATGTGCTTG) c.979-2_979-1insAAACAAATGATGACCAAACCATGTGCTTG | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48446824del | CA2695220275 | FBN1 | c.5672-2del (n.5672-2del) n.4346-2del c.671-2del (n.671-2del) c.*1435-2del (n.*1435-2del) c.979-2del | |
15 | g.48446824T>A | CA392341464 | FBN1 | c.5672-2A>T (n.5672-2A>T) n.4346-2A>T c.671-2A>T (n.671-2A>T) c.*1435-2A>T (n.*1435-2A>T) c.979-2A>T | ClinVar gnomAD v4 |
15 | g.48446824T>C | CA16614415 | FBN1 | c.5672-2A>G (n.5672-2A>G) n.4346-2A>G c.671-2A>G (n.671-2A>G) c.*1435-2A>G (n.*1435-2A>G) c.979-2A>G | ClinVar dbSNP |
15 | g.48446824T>G | CA392341465 | FBN1 | c.5672-2A>C (n.5672-2A>C) n.4346-2A>C c.671-2A>C (n.671-2A>C) c.*1435-2A>C (n.*1435-2A>C) c.979-2A>C | |
15 | g.48446824T= | CA2175495521 | FBN1 | c.5672-2A= (n.5672-2A=) n.4346-2A= c.671-2A= (n.671-2A=) c.*1435-2A= (n.*1435-2A=) c.979-2A= | |
15 | g.48446824_48446825insGGTTTGGTCATCATTTGTTTTAAAACC | CA2628347785 | FBN1 | c.5672-3_5672-2insGGTTTTAAAACAAATGATGACCAAACC (n.5672-3_5672-2insGGTTTTAAAACAAATGATGACCAAACC) n.4346-3_4346-2insGGTTTTAAAACAAATGATGACCAAACC c.671-3_671-2insGGTTTTAAAACAAATGATGACCAAACC (n.671-3_671-2insGGTTTTAAAACAAATGATGACCAAACC) c.*1435-3_*1435-2insGGTTTTAAAACAAATGATGACCAAACC (n.*1435-3_*1435-2insGGTTTTAAAACAAATGATGACCAAACC) c.979-3_979-2insGGTTTTAAAACAAATGATGACCAAACC | gnomAD v4 |
15 | g.48446825A= | CA2175495534 | FBN1 | c.5672-3T= (n.5672-3T=) n.4346-3T= c.671-3T= (n.671-3T=) c.*1435-3T= (n.*1435-3T=) c.979-3T= | |
15 | g.48446825A>C | CA2581214152 | FBN1 | c.5672-3T>G (n.5672-3T>G) n.4346-3T>G c.671-3T>G (n.671-3T>G) c.*1435-3T>G (n.*1435-3T>G) c.979-3T>G | |
15 | g.48446825A>G | CA015937 | FBN1 | c.5672-3T>C (n.5672-3T>C) n.4346-3T>C c.671-3T>C (n.671-3T>C) c.*1435-3T>C (n.*1435-3T>C) c.979-3T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48446825A>T | CA2581214151 | FBN1 | c.5672-3T>A (n.5672-3T>A) n.4346-3T>A c.671-3T>A (n.671-3T>A) c.*1435-3T>A (n.*1435-3T>A) c.979-3T>A | gnomAD v4 |
15 | g.48446825_48446826insAAACCAGT | CA617837425 | FBN1 | c.5672-4_5672-3insACTGGTTT (n.5672-4_5672-3insACTGGTTT) n.4346-4_4346-3insACTGGTTT c.671-4_671-3insACTGGTTT (n.671-4_671-3insACTGGTTT) c.*1435-4_*1435-3insACTGGTTT (n.*1435-4_*1435-3insACTGGTTT) c.979-4_979-3insACTGGTTT | gnomAD v2 gnomAD v4 |
15 | g.48446825_48446826insAAACCAGTGT | CA2628347786 | FBN1 | c.5672-4_5672-3insACACTGGTTT (n.5672-4_5672-3insACACTGGTTT) n.4346-4_4346-3insACACTGGTTT c.671-4_671-3insACACTGGTTT (n.671-4_671-3insACACTGGTTT) c.*1435-4_*1435-3insACACTGGTTT (n.*1435-4_*1435-3insACACTGGTTT) c.979-4_979-3insACACTGGTTT | gnomAD v4 |
15 | g.48446826G>C | CA2580089703 | FBN1 | c.5672-4C>G (n.5672-4C>G) n.4346-4C>G c.671-4C>G (n.671-4C>G) c.*1435-4C>G (n.*1435-4C>G) c.979-4C>G | ClinVar |
15 | g.48446826G>T | CA2628347788 | FBN1 | c.5672-4C>A (n.5672-4C>A) n.4346-4C>A c.671-4C>A (n.671-4C>A) c.*1435-4C>A (n.*1435-4C>A) c.979-4C>A | gnomAD v4 |
15 | g.48446826_48446827del | CA2628347787 | FBN1 | c.5672-5_5672-4del (n.5672-5_5672-4del) n.4346-5_4346-4del c.671-5_671-4del (n.671-5_671-4del) c.*1435-5_*1435-4del (n.*1435-5_*1435-4del) c.979-5_979-4del | gnomAD v4 |
15 | g.48446827T>C | CA2740096638 | FBN1 | c.5672-5A>G (n.5672-5A>G) n.4346-5A>G c.671-5A>G (n.671-5A>G) c.*1435-5A>G (n.*1435-5A>G) c.979-5A>G | ClinVar |
15 | g.48446828A= | CA2175495540 | FBN1 | c.5672-6T= (n.5672-6T=) n.4346-6T= c.671-6T= (n.671-6T=) c.*1435-6T= (n.*1435-6T=) c.979-6T= | |
15 | g.48446828A>G | CA2628347789 | FBN1 | c.5672-6T>C (n.5672-6T>C) n.4346-6T>C c.671-6T>C (n.671-6T>C) c.*1435-6T>C (n.*1435-6T>C) c.979-6T>C | gnomAD v4 |
15 | g.48446828A>T | CA658683892 | FBN1 | c.5672-6T>A (n.5672-6T>A) n.4346-6T>A c.671-6T>A (n.671-6T>A) c.*1435-6T>A (n.*1435-6T>A) c.979-6T>A | ClinVar dbSNP |
15 | g.48446829G>T | CA2628347790 | FBN1 | c.5672-7C>A (n.5672-7C>A) n.4346-7C>A c.671-7C>A (n.671-7C>A) c.*1435-7C>A (n.*1435-7C>A) c.979-7C>A | gnomAD v4 |
15 | g.48446830G>C | CA2573150907 | FBN1 | c.5672-8C>G (n.5672-8C>G) n.4346-8C>G c.671-8C>G (n.671-8C>G) c.*1435-8C>G (n.*1435-8C>G) c.979-8C>G | ClinVar dbSNP gnomAD v4 |
15 | g.48446830G>T | CA2575716854 | FBN1 | c.5672-8C>A (n.5672-8C>A) n.4346-8C>A c.671-8C>A (n.671-8C>A) c.*1435-8C>A (n.*1435-8C>A) c.979-8C>A | gnomAD v4 |
15 | g.48446831A>G | CA2628347791 | FBN1 | c.5672-9T>C (n.5672-9T>C) n.4346-9T>C c.671-9T>C (n.671-9T>C) c.*1435-9T>C (n.*1435-9T>C) c.979-9T>C | gnomAD v4 |
15 | g.48446832A>G | CA2628347792 | FBN1 | c.5672-10T>C (n.5672-10T>C) n.4346-10T>C c.671-10T>C (n.671-10T>C) c.*1435-10T>C (n.*1435-10T>C) c.979-10T>C | gnomAD v4 |
15 | g.48446832A>T | CA2575716857 | FBN1 | c.5672-10T>A (n.5672-10T>A) n.4346-10T>A c.671-10T>A (n.671-10T>A) c.*1435-10T>A (n.*1435-10T>A) c.979-10T>A | |
15 | g.48446833G>T | CA2628347793 | FBN1 | c.5672-11C>A (n.5672-11C>A) n.4346-11C>A c.671-11C>A (n.671-11C>A) c.*1435-11C>A (n.*1435-11C>A) c.979-11C>A | gnomAD v4 |
15 | g.48446836del | CA2628347794 | FBN1 | c.5672-12del (n.5672-12del) n.4346-12del c.671-12del (n.671-12del) c.*1435-12del (n.*1435-12del) c.979-12del | gnomAD v4 |
15 | g.48446835A= | CA2175495548 | FBN1 | c.5672-13T= (n.5672-13T=) n.4346-13T= c.671-13T= (n.671-13T=) c.*1435-13T= (n.*1435-13T=) c.979-13T= | |
15 | g.48446835A>C | CA269533835 | FBN1 | c.5672-13T>G (n.5672-13T>G) n.4346-13T>G c.671-13T>G (n.671-13T>G) c.*1435-13T>G (n.*1435-13T>G) c.979-13T>G | dbSNP |
15 | g.48446836A= | CA2175495551 | FBN1 | c.5672-14T= (n.5672-14T=) n.4346-14T= c.671-14T= (n.671-14T=) c.*1435-14T= (n.*1435-14T=) c.979-14T= | |
15 | g.48446836A>G | CA713395549 | FBN1 | c.5672-14T>C (n.5672-14T>C) n.4346-14T>C c.671-14T>C (n.671-14T>C) c.*1435-14T>C (n.*1435-14T>C) c.979-14T>C | ClinVar dbSNP gnomAD v4 |
15 | g.48446837G>A | CA2175495563 | FBN1 | c.5672-15C>T (n.5672-15C>T) n.4346-15C>T c.671-15C>T (n.671-15C>T) c.*1435-15C>T (n.*1435-15C>T) c.979-15C>T | dbSNP |
15 | g.48446837G>C | CA055379 | FBN1 | c.5672-15C>G (n.5672-15C>G) n.4346-15C>G c.671-15C>G (n.671-15C>G) c.*1435-15C>G (n.*1435-15C>G) c.979-15C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48446837G= | CA2175495557 | FBN1 | c.5672-15C= (n.5672-15C=) n.4346-15C= c.671-15C= (n.671-15C=) c.*1435-15C= (n.*1435-15C=) c.979-15C= | |
15 | g.48446837G>T | CA2575716858 | FBN1 | c.5672-15C>A (n.5672-15C>A) n.4346-15C>A c.671-15C>A (n.671-15C>A) c.*1435-15C>A (n.*1435-15C>A) c.979-15C>A | gnomAD v4 |