| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48508577C= | CA2175529215 | FBN1 | c.1837+5G= (n.1837+5G=) n.511+5G= c.636+29134G= (n.636+29134G=) | |
| 15 | g.48508577C>T | CA617839729 | FBN1 | c.1837+5G>A (n.1837+5G>A) n.511+5G>A c.636+29134G>A (n.636+29134G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48508578G>A | CA046043 | FBN1 | c.1837+4C>T (n.1837+4C>T) n.511+4C>T c.636+29133C>T (n.636+29133C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48508578G= | CA2175529216 | FBN1 | c.1837+4C= (n.1837+4C=) n.511+4C= c.636+29133C= (n.636+29133C=) | |
| 15 | g.48508579_48508583delinsAACCT | CA2175529217 | FBN1 | c.1836_1837+3delinsAGGTT n.510_511+3delinsAGGTT c.636+29128_636+29132delinsAGGTT (n.636+29128_636+29132delinsAGGTT) | |
| 15 | g.48508580A= | CA2175529218 | FBN1 | c.1837+2T= (n.1837+2T=) n.511+2T= c.636+29131T= (n.636+29131T=) | |
| 15 | g.48508580A>C | CA392340128 | FBN1 | c.1837+2T>G (n.1837+2T>G) n.511+2T>G c.636+29131T>G (n.636+29131T>G) | |
| 15 | g.48508580A>G | CA392340129 | FBN1 | c.1837+2T>C (n.1837+2T>C) n.511+2T>C c.636+29131T>C (n.636+29131T>C) | ClinVar dbSNP |
| 15 | g.48508580A>T | CA392340131 | FBN1 | c.1837+2T>A (n.1837+2T>A) n.511+2T>A c.636+29131T>A (n.636+29131T>A) | |
| 15 | g.48508580_48508583delinsCCC | CA1139663978 | FBN1 | c.1836_1837+2delinsGGG n.510_511+2delinsGGG c.636+29128_636+29131delinsGGG (n.636+29128_636+29131delinsGGG) | ClinVar dbSNP |
| 15 | g.48508581C>A | CA012573 | FBN1 | c.1837+1G>T (n.1837+1G>T) n.511+1G>T c.636+29130G>T (n.636+29130G>T) | ClinVar dbSNP COSMIC |
| 15 | g.48508581C= | CA2175529219 | FBN1 | c.1837+1G= (n.1837+1G=) n.511+1G= c.636+29130G= (n.636+29130G=) | |
| 15 | g.48508581C>G | CA392340134 | FBN1 | c.1837+1G>C (n.1837+1G>C) n.511+1G>C c.636+29130G>C (n.636+29130G>C) | |
| 15 | g.48508581C>T | CA392340137 | FBN1 | c.1837+1G>A (n.1837+1G>A) n.511+1G>A c.636+29130G>A (n.636+29130G>A) | ClinVar dbSNP |
| 15 | g.48508582C>A | CA392340139 | FBN1 | c.1837G>T (p.Asp613Tyr) n.511G>T c.636+29129G>T (n.636+29129G>T) | ClinVar dbSNP |
| 15 | g.48508582C= | CA2175529220 | FBN1 | c.1837G= (p.Asp613=) n.511G= c.636+29129G= (n.636+29129G=) | |
| 15 | g.48508582C>G | CA392340140 | FBN1 | c.1837G>C (p.Asp613His) n.511G>C c.636+29129G>C (n.636+29129G>C) | |
| 15 | g.48508582C>T | CA392340142 | FBN1 | c.1837G>A (p.Asp613Asn) n.511G>A c.636+29129G>A (n.636+29129G>A) | ClinVar dbSNP |
| 15 | g.48508583T>A | CA392340144 | FBN1 | c.1836A>T (p.Lys612Asn) n.510A>T c.636+29128A>T (n.636+29128A>T) | ClinVar dbSNP |
| 15 | g.48508583T>C | CA490026895 | FBN1 | c.1836A>G (p.Lys612=) n.510A>G c.636+29128A>G (n.636+29128A>G) | |
| 15 | g.48508583T>G | CA392340146 | FBN1 | c.1836A>C (p.Lys612Asn) n.510A>C c.636+29128A>C (n.636+29128A>C) | |
| 15 | g.48508583T= | CA2175529221 | FBN1 | c.1836A= (p.Lys612=) n.510A= c.636+29128A= (n.636+29128A=) | |
| 15 | g.48508585del | CA2695220309 | FBN1 | c.1836del (p.Asp613ThrfsTer12) n.510del c.636+29128del (n.636+29128del) | |
| 15 | g.48508584T>A | CA392340149 | FBN1 | c.1835A>T (p.Lys612Ile) n.509A>T c.636+29127A>T (n.636+29127A>T) | |
| 15 | g.48508584T>C | CA392340150 | FBN1 | c.1835A>G (p.Lys612Arg) n.509A>G c.636+29127A>G (n.636+29127A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48508584T>G | CA392340152 | FBN1 | c.1835A>C (p.Lys612Thr) n.509A>C c.636+29127A>C (n.636+29127A>C) | |
| 15 | g.48508584T= | CA2175529222 | FBN1 | c.1835A= (p.Lys612=) n.509A= c.636+29127A= (n.636+29127A=) | |
| 15 | g.48508585T>A | CA392340155 | FBN1 | c.1834A>T (p.Lys612Ter) n.508A>T c.636+29126A>T (n.636+29126A>T) | |
| 15 | g.48508585T>C | CA392340156 | FBN1 | c.1834A>G (p.Lys612Glu) n.508A>G c.636+29126A>G (n.636+29126A>G) | |
| 15 | g.48508585T>G | CA392340157 | FBN1 | c.1834A>C (p.Lys612Gln) n.508A>C c.636+29126A>C (n.636+29126A>C) | |
| 15 | g.48508586G>A | CA490026912 | FBN1 | c.1833C>T (p.Cys611=) n.507C>T c.636+29125C>T (n.636+29125C>T) | gnomAD v4 |
| 15 | g.48508586G>C | CA392340158 | FBN1 | c.1833C>G (p.Cys611Trp) n.507C>G c.636+29125C>G (n.636+29125C>G) | |
| 15 | g.48508586G>T | CA392340159 | FBN1 | c.1833C>A (p.Cys611Ter) n.507C>A c.636+29125C>A (n.636+29125C>A) | |
| 15 | g.48508587C>A | CA392340161 | FBN1 | c.1832G>T (p.Cys611Phe) n.506G>T c.636+29124G>T (n.636+29124G>T) | |
| 15 | g.48508587C>G | CA392340162 | FBN1 | c.1832G>C (p.Cys611Ser) n.506G>C c.636+29124G>C (n.636+29124G>C) | |
| 15 | g.48508587C>T | CA392340164 | FBN1 | c.1832G>A (p.Cys611Tyr) n.506G>A c.636+29124G>A (n.636+29124G>A) | ClinVar |
| 15 | g.48508588A= | CA2175529223 | FBN1 | c.1831T= (p.Cys611=) n.505T= c.636+29123T= (n.636+29123T=) | |
| 15 | g.48508588A>C | CA392340170 | FBN1 | c.1831T>G (p.Cys611Gly) n.505T>G c.636+29123T>G (n.636+29123T>G) | |
| 15 | g.48508588A>G | CA392340169 | FBN1 | c.1831T>C (p.Cys611Arg) n.505T>C c.636+29123T>C (n.636+29123T>C) | ClinVar dbSNP |
| 15 | g.48508588A>T | CA392340167 | FBN1 | c.1831T>A (p.Cys611Ser) n.505T>A c.636+29123T>A (n.636+29123T>A) | |
| 15 | g.48508589A= | CA2175529224 | FBN1 | c.1830T= (p.Tyr610=) n.504T= c.636+29122T= (n.636+29122T=) | |
| 15 | g.48508589A>C | CA392340173 | FBN1 | c.1830T>G (p.Tyr610Ter) n.504T>G c.636+29122T>G (n.636+29122T>G) | |
| 15 | g.48508589A>G | CA490026924 | FBN1 | c.1830T>C (p.Tyr610=) n.504T>C c.636+29122T>C (n.636+29122T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48508589A>T | CA392340174 | FBN1 | c.1830T>A (p.Tyr610Ter) n.504T>A c.636+29122T>A (n.636+29122T>A) | |
| 15 | g.48508590T>A | CA392340176 | FBN1 | c.1829A>T (p.Tyr610Phe) n.503A>T c.636+29121A>T (n.636+29121A>T) | |
| 15 | g.48508590T>C | CA392340177 | FBN1 | c.1829A>G (p.Tyr610Cys) n.503A>G c.636+29121A>G (n.636+29121A>G) | |
| 15 | g.48508590T>G | CA392340179 | FBN1 | c.1829A>C (p.Tyr610Ser) n.503A>C c.636+29121A>C (n.636+29121A>C) | |
| 15 | g.48508591A>C | CA392340186 | FBN1 | c.1828T>G (p.Tyr610Asp) n.502T>G c.636+29120T>G (n.636+29120T>G) | |
| 15 | g.48508591A>G | CA392340183 | FBN1 | c.1828T>C (p.Tyr610His) n.502T>C c.636+29120T>C (n.636+29120T>C) | |
| 15 | g.48508591A>T | CA392340181 | FBN1 | c.1828T>A (p.Tyr610Asn) n.502T>A c.636+29120T>A (n.636+29120T>A) | |
| 15 | g.48508592A= | CA2175529225 | FBN1 | c.1827T= (p.Arg609=) n.501T= c.636+29119T= (n.636+29119T=) | |
| 15 | g.48508592A>C | CA490026940 | FBN1 | c.1827T>G (p.Arg609=) n.501T>G c.636+29119T>G (n.636+29119T>G) | dbSNP gnomAD v4 |
| 15 | g.48508592A>G | CA490026943 | FBN1 | c.1827T>C (p.Arg609=) n.501T>C c.636+29119T>C (n.636+29119T>C) | |
| 15 | g.48508592A>T | CA490026945 | FBN1 | c.1827T>A (p.Arg609=) n.501T>A c.636+29119T>A (n.636+29119T>A) | |
| 15 | g.48508593C>A | CA392340188 | FBN1 | c.1826G>T (p.Arg609Leu) n.500G>T c.636+29118G>T (n.636+29118G>T) | |
| 15 | g.48508593C= | CA2175529226 | FBN1 | c.1826G= (p.Arg609=) n.500G= c.636+29118G= (n.636+29118G=) | |
| 15 | g.48508593C>G | CA392340191 | FBN1 | c.1826G>C (p.Arg609Pro) n.500G>C c.636+29118G>C (n.636+29118G>C) | |
| 15 | g.48508593C>T | CA045982 | FBN1 | c.1826G>A (p.Arg609His) n.500G>A c.636+29118G>A (n.636+29118G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48508594G>A | CA045974 | FBN1 | c.1825C>T (p.Arg609Cys) n.499C>T c.636+29117C>T (n.636+29117C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48508594G>C | CA392340195 | FBN1 | c.1825C>G (p.Arg609Gly) n.499C>G c.636+29117C>G (n.636+29117C>G) | |
| 15 | g.48508594G= | CA2175529227 | FBN1 | c.1825C= (p.Arg609=) n.499C= c.636+29117C= (n.636+29117C=) | |
| 15 | g.48508594G>T | CA392340197 | FBN1 | c.1825C>A (p.Arg609Ser) n.499C>A c.636+29117C>A (n.636+29117C>A) | |
| 15 | g.48508595T>A | CA490026962 | FBN1 | c.1824A>T (p.Gly608=) n.498A>T c.636+29116A>T (n.636+29116A>T) | |
| 15 | g.48508595T>C | CA490026964 | FBN1 | c.1824A>G (p.Gly608=) n.498A>G c.636+29116A>G (n.636+29116A>G) | gnomAD v4 |
| 15 | g.48508595T>G | CA490026966 | FBN1 | c.1824A>C (p.Gly608=) n.498A>C c.636+29116A>C (n.636+29116A>C) | |
| 15 | g.48508595_48508596delinsTC | CA2175529228 | FBN1 | c.1823_1824delinsGA (p.Gly608=) n.497_498delinsGA c.636+29115_636+29116delinsGA (n.636+29115_636+29116delinsGA) | |
| 15 | g.48508596C>A | CA392340202 | FBN1 | c.1823G>T (p.Gly608Val) n.497G>T c.636+29115G>T (n.636+29115G>T) | |
| 15 | g.48508596C= | CA2175529229 | FBN1 | c.1823G= (p.Gly608=) n.497G= c.636+29115G= (n.636+29115G=) | |
| 15 | g.48508596C>G | CA392340199 | FBN1 | c.1823G>C (p.Gly608Ala) n.497G>C c.636+29115G>C (n.636+29115G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48508596C>T | CA045960 | FBN1 | c.1823G>A (p.Gly608Glu) n.497G>A c.636+29115G>A (n.636+29115G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48508597del | CA658824474 | FBN1 | c.1823del (p.Gly608AspfsTer17) n.497del c.636+29115del (n.636+29115del) | ClinVar dbSNP |
| 15 | g.48508597C>A | CA392340205 | FBN1 | c.1822G>T (p.Gly608Ter) n.496G>T c.636+29114G>T (n.636+29114G>T) | ClinVar |
| 15 | g.48508597C>G | CA392340207 | FBN1 | c.1822G>C (p.Gly608Arg) n.496G>C c.636+29114G>C (n.636+29114G>C) | |
| 15 | g.48508597C>T | CA392340208 | FBN1 | c.1822G>A (p.Gly608Arg) n.496G>A c.636+29114G>A (n.636+29114G>A) | gnomAD v4 |
| 15 | g.48508598A= | CA2175529230 | FBN1 | c.1821T= (p.Asp607=) n.495T= c.636+29113T= (n.636+29113T=) | |
| 15 | g.48508598A>C | CA392340210 | FBN1 | c.1821T>G (p.Asp607Glu) n.495T>G c.636+29113T>G (n.636+29113T>G) | |
| 15 | g.48508598A>G | CA045942 | FBN1 | c.1821T>C (p.Asp607=) n.495T>C c.636+29113T>C (n.636+29113T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48508598A>T | CA392340216 | FBN1 | c.1821T>A (p.Asp607Glu) n.495T>A c.636+29113T>A (n.636+29113T>A) | |
| 15 | g.48508599T>A | CA392340218 | FBN1 | c.1820A>T (p.Asp607Val) n.494A>T c.636+29112A>T (n.636+29112A>T) | |
| 15 | g.48508599T>C | CA392340220 | FBN1 | c.1820A>G (p.Asp607Gly) n.494A>G c.636+29112A>G (n.636+29112A>G) | |
| 15 | g.48508599T>G | CA392340221 | FBN1 | c.1820A>C (p.Asp607Ala) n.494A>C c.636+29112A>C (n.636+29112A>C) | |
| 15 | g.48508600C>A | CA392340223 | FBN1 | c.1819G>T (p.Asp607Tyr) n.493G>T c.636+29111G>T (n.636+29111G>T) | |
| 15 | g.48508600C>G | CA392340224 | FBN1 | c.1819G>C (p.Asp607His) n.493G>C c.636+29111G>C (n.636+29111G>C) | |
| 15 | g.48508600C>T | CA392340226 | FBN1 | c.1819G>A (p.Asp607Asn) n.493G>A c.636+29111G>A (n.636+29111G>A) | |
| 15 | g.48508601T>A | CA490027000 | FBN1 | c.1818A>T (p.Ser606=) n.492A>T c.636+29110A>T (n.636+29110A>T) | |
| 15 | g.48508601T>C | CA490027003 | FBN1 | c.1818A>G (p.Ser606=) n.492A>G c.636+29110A>G (n.636+29110A>G) | |
| 15 | g.48508601T>G | CA490027007 | FBN1 | c.1818A>C (p.Ser606=) n.492A>C c.636+29110A>C (n.636+29110A>C) | |
| 15 | g.48508602G>A | CA392340229 | FBN1 | c.1817C>T (p.Ser606Leu) n.491C>T c.636+29109C>T (n.636+29109C>T) | |
| 15 | g.48508602G>C | CA392340231 | FBN1 | c.1817C>G (p.Ser606Ter) n.491C>G c.636+29109C>G (n.636+29109C>G) | ClinVar dbSNP |
| 15 | g.48508602G= | CA2175529231 | FBN1 | c.1817C= (p.Ser606=) n.491C= c.636+29109C= (n.636+29109C=) | |
| 15 | g.48508602G>T | CA012566 | FBN1 | c.1817C>A (p.Ser606Ter) n.491C>A c.636+29109C>A (n.636+29109C>A) | ClinVar dbSNP |
| 15 | g.48508603A>C | CA392340233 | FBN1 | c.1816T>G (p.Ser606Ala) n.490T>G c.636+29108T>G (n.636+29108T>G) | |
| 15 | g.48508603A>G | CA392340235 | FBN1 | c.1816T>C (p.Ser606Pro) n.490T>C c.636+29108T>C (n.636+29108T>C) | |
| 15 | g.48508603A>T | CA392340237 | FBN1 | c.1816T>A (p.Ser606Thr) n.490T>A c.636+29108T>A (n.636+29108T>A) | |
| 15 | g.48508604T>A | CA490027029 | FBN1 | c.1815A>T (p.Ala605=) n.489A>T c.636+29107A>T (n.636+29107A>T) | |
| 15 | g.48508604T>C | CA490027033 | FBN1 | c.1815A>G (p.Ala605=) n.489A>G c.636+29107A>G (n.636+29107A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48508604T>G | CA490027035 | FBN1 | c.1815A>C (p.Ala605=) n.489A>C c.636+29107A>C (n.636+29107A>C) | |
| 15 | g.48508605G>A | CA392340239 | FBN1 | c.1814C>T (p.Ala605Val) n.488C>T c.636+29106C>T (n.636+29106C>T) | gnomAD v4 |
| 15 | g.48508605G>C | CA392340241 | FBN1 | c.1814C>G (p.Ala605Gly) n.488C>G c.636+29106C>G (n.636+29106C>G) | |
| 15 | g.48508605G>T | CA392340243 | FBN1 | c.1814C>A (p.Ala605Glu) n.488C>A c.636+29106C>A (n.636+29106C>A) | COSMIC |
| 15 | g.48508606C>A | CA392340246 | FBN1 | c.1813G>T (p.Ala605Ser) n.487G>T c.636+29105G>T (n.636+29105G>T) | ClinVar |
| 15 | g.48508606C= | CA2175529232 | FBN1 | c.1813G= (p.Ala605=) n.487G= c.636+29105G= (n.636+29105G=) | |
| 15 | g.48508606C>G | CA392340247 | FBN1 | c.1813G>C (p.Ala605Pro) n.487G>C c.636+29105G>C (n.636+29105G>C) | |
| 15 | g.48508606C>T | CA392340249 | FBN1 | c.1813G>A (p.Ala605Thr) n.487G>A c.636+29105G>A (n.636+29105G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48508607C>A | CA490027050 | FBN1 | c.1812G>T (p.Leu604=) n.486G>T c.636+29104G>T (n.636+29104G>T) | |
| 15 | g.48508607C= | CA2175529233 | FBN1 | c.1812G= (p.Leu604=) n.486G= c.636+29104G= (n.636+29104G=) | |
| 15 | g.48508607C>G | CA490027052 | FBN1 | c.1812G>C (p.Leu604=) n.486G>C c.636+29104G>C (n.636+29104G>C) | |
| 15 | g.48508607C>T | CA490027054 | FBN1 | c.1812G>A (p.Leu604=) n.486G>A c.636+29104G>A (n.636+29104G>A) | ClinVar dbSNP |
| 15 | g.48508608A>C | CA392340252 | FBN1 | c.1811T>G (p.Leu604Arg) n.485T>G c.636+29103T>G (n.636+29103T>G) | |
| 15 | g.48508608A>G | CA392340254 | FBN1 | c.1811T>C (p.Leu604Pro) n.485T>C c.636+29103T>C (n.636+29103T>C) | |
| 15 | g.48508608A>T | CA392340256 | FBN1 | c.1811T>A (p.Leu604Gln) n.485T>A c.636+29103T>A (n.636+29103T>A) | |
| 15 | g.48508609G>A | CA490027062 | FBN1 | c.1810C>T (p.Leu604=) n.484C>T c.636+29102C>T (n.636+29102C>T) | |
| 15 | g.48508609G>C | CA392340260 | FBN1 | c.1810C>G (p.Leu604Val) n.484C>G c.636+29102C>G (n.636+29102C>G) | |
| 15 | g.48508609G>T | CA392340258 | FBN1 | c.1810C>A (p.Leu604Met) n.484C>A c.636+29102C>A (n.636+29102C>A) | |
| 15 | g.48508610del | CA2740096680 | FBN1 | c.1809del (p.Gln603HisfsTer22) n.483del c.636+29101del (n.636+29101del) | ClinVar |
| 15 | g.48508610C>A | CA392340262 | FBN1 | c.1809G>T (p.Gln603His) n.483G>T c.636+29101G>T (n.636+29101G>T) | |
| 15 | g.48508610C>G | CA392340264 | FBN1 | c.1809G>C (p.Gln603His) n.483G>C c.636+29101G>C (n.636+29101G>C) | |
| 15 | g.48508610C>T | CA490027071 | FBN1 | c.1809G>A (p.Gln603=) n.483G>A c.636+29101G>A (n.636+29101G>A) | |
| 15 | g.48508611T>A | CA392340266 | FBN1 | c.1808A>T (p.Gln603Leu) n.482A>T c.636+29100A>T (n.636+29100A>T) | |
| 15 | g.48508611T>C | CA392340268 | FBN1 | c.1808A>G (p.Gln603Arg) n.482A>G c.636+29100A>G (n.636+29100A>G) | |
| 15 | g.48508611T>G | CA392340269 | FBN1 | c.1808A>C (p.Gln603Pro) n.482A>C c.636+29100A>C (n.636+29100A>C) | |
| 15 | g.48508612G>A | CA10587860 | FBN1 | c.1807C>T (p.Gln603Ter) n.481C>T c.636+29099C>T (n.636+29099C>T) | ClinVar dbSNP COSMIC |
| 15 | g.48508612G>C | CA392340273 | FBN1 | c.1807C>G (p.Gln603Glu) n.481C>G c.636+29099C>G (n.636+29099C>G) | |
| 15 | g.48508612G= | CA2175529234 | FBN1 | c.1807C= (p.Gln603=) n.481C= c.636+29099C= (n.636+29099C=) | |
| 15 | g.48508612G>T | CA392340274 | FBN1 | c.1807C>A (p.Gln603Lys) n.481C>A c.636+29099C>A (n.636+29099C>A) | |
| 15 | g.48508613G>A | CA490027076 | FBN1 | c.1806C>T (p.Phe602=) n.480C>T c.636+29098C>T (n.636+29098C>T) | |
| 15 | g.48508613G>C | CA392340277 | FBN1 | c.1806C>G (p.Phe602Leu) n.480C>G c.636+29098C>G (n.636+29098C>G) | |
| 15 | g.48508613G>T | CA392340279 | FBN1 | c.1806C>A (p.Phe602Leu) n.480C>A c.636+29098C>A (n.636+29098C>A) | |
| 15 | g.48508614A= | CA2175529235 | FBN1 | c.1805T= (p.Phe602=) n.479T= c.636+29097T= (n.636+29097T=) | |
| 15 | g.48508614A>C | CA392340281 | FBN1 | c.1805T>G (p.Phe602Cys) n.479T>G c.636+29097T>G (n.636+29097T>G) | ClinVar |
| 15 | g.48508614A>G | CA392340282 | FBN1 | c.1805T>C (p.Phe602Ser) n.479T>C c.636+29097T>C (n.636+29097T>C) | ClinVar dbSNP |
| 15 | g.48508614A>T | CA392340284 | FBN1 | c.1805T>A (p.Phe602Tyr) n.479T>A c.636+29097T>A (n.636+29097T>A) | |
| 15 | g.48508615A>C | CA392340289 | FBN1 | c.1804T>G (p.Phe602Val) n.478T>G c.636+29096T>G (n.636+29096T>G) | |
| 15 | g.48508615A>G | CA392340290 | FBN1 | c.1804T>C (p.Phe602Leu) n.478T>C c.636+29096T>C (n.636+29096T>C) | ClinVar dbSNP |
| 15 | g.48508615A>T | CA392340287 | FBN1 | c.1804T>A (p.Phe602Ile) n.478T>A c.636+29096T>A (n.636+29096T>A) | |
| 15 | g.48508616T>A | CA490027077 | FBN1 | c.1803A>T (p.Gly601=) n.477A>T c.636+29095A>T (n.636+29095A>T) | |
| 15 | g.48508616T>C | CA490027078 | FBN1 | c.1803A>G (p.Gly601=) n.477A>G c.636+29095A>G (n.636+29095A>G) | ClinVar gnomAD v4 |
| 15 | g.48508616T>G | CA490027079 | FBN1 | c.1803A>C (p.Gly601=) n.477A>C c.636+29095A>C (n.636+29095A>C) | ClinVar dbSNP |
| 15 | g.48508616T= | CA2175529236 | FBN1 | c.1803A= (p.Gly601=) n.477A= c.636+29095A= (n.636+29095A=) | |
| 15 | g.48508617C>A | CA392340294 | FBN1 | c.1802G>T (p.Gly601Val) n.476G>T c.636+29094G>T (n.636+29094G>T) | |
| 15 | g.48508617C>G | CA392340292 | FBN1 | c.1802G>C (p.Gly601Ala) n.476G>C c.636+29094G>C (n.636+29094G>C) | |
| 15 | g.48508617C>T | CA392340295 | FBN1 | c.1802G>A (p.Gly601Glu) n.476G>A c.636+29094G>A (n.636+29094G>A) | |
| 15 | g.48508618C>A | CA392340296 | FBN1 | c.1801G>T (p.Gly601Ter) n.475G>T c.636+29093G>T (n.636+29093G>T) | ClinVar dbSNP |
| 15 | g.48508618C= | CA2175529237 | FBN1 | c.1801G= (p.Gly601=) n.475G= c.636+29093G= (n.636+29093G=) | |
| 15 | g.48508618C>G | CA392340297 | FBN1 | c.1801G>C (p.Gly601Arg) n.475G>C c.636+29093G>C (n.636+29093G>C) | |
| 15 | g.48508618C>T | CA392340298 | FBN1 | c.1801G>A (p.Gly601Arg) n.475G>A c.636+29093G>A (n.636+29093G>A) | |
| 15 | g.48508619A= | CA2175529238 | FBN1 | c.1800T= (p.Pro600=) n.474T= c.636+29092T= (n.636+29092T=) | |
| 15 | g.48508619A>C | CA045926 | FBN1 | c.1800T>G (p.Pro600=) n.474T>G c.636+29092T>G (n.636+29092T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48508619A>G | CA490027081 | FBN1 | c.1800T>C (p.Pro600=) n.474T>C c.636+29092T>C (n.636+29092T>C) | |
| 15 | g.48508619A>T | CA490027080 | FBN1 | c.1800T>A (p.Pro600=) n.474T>A c.636+29092T>A (n.636+29092T>A) | |
| 15 | g.48508620G>A | CA392340299 | FBN1 | c.1799C>T (p.Pro600Leu) n.473C>T c.636+29091C>T (n.636+29091C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48508620G>C | CA392340300 | FBN1 | c.1799C>G (p.Pro600Arg) n.473C>G c.636+29091C>G (n.636+29091C>G) | |
| 15 | g.48508620G>T | CA392340301 | FBN1 | c.1799C>A (p.Pro600His) n.473C>A c.636+29091C>A (n.636+29091C>A) | |
| 15 | g.48508621G>A | CA392340302 | FBN1 | c.1798C>T (p.Pro600Ser) n.472C>T c.636+29090C>T (n.636+29090C>T) | ClinVar |
| 15 | g.48508621G>C | CA392340303 | FBN1 | c.1798C>G (p.Pro600Ala) n.472C>G c.636+29090C>G (n.636+29090C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48508621G= | CA2175529239 | FBN1 | c.1798C= (p.Pro600=) n.472C= c.636+29090C= (n.636+29090C=) | |
| 15 | g.48508621G>T | CA392340304 | FBN1 | c.1798C>A (p.Pro600Thr) n.472C>A c.636+29090C>A (n.636+29090C>A) | |
| 15 | g.48508622T>A | CA392340305 | FBN1 | c.1797A>T (p.Lys599Asn) n.471A>T c.636+29089A>T (n.636+29089A>T) | |
| 15 | g.48508622T>C | CA490027083 | FBN1 | c.1797A>G (p.Lys599=) n.471A>G c.636+29089A>G (n.636+29089A>G) | |
| 15 | g.48508622T>G | CA392340306 | FBN1 | c.1797A>C (p.Lys599Asn) n.471A>C c.636+29089A>C (n.636+29089A>C) | |
| 15 | g.48508623T>A | CA392340309 | FBN1 | c.1796A>T (p.Lys599Ile) n.470A>T c.636+29088A>T (n.636+29088A>T) | |
| 15 | g.48508623T>C | CA392340308 | FBN1 | c.1796A>G (p.Lys599Arg) n.470A>G c.636+29088A>G (n.636+29088A>G) | |
| 15 | g.48508623T>G | CA392340307 | FBN1 | c.1796A>C (p.Lys599Thr) n.470A>C c.636+29088A>C (n.636+29088A>C) | |
| 15 | g.48508624T>A | CA392340310 | FBN1 | c.1795A>T (p.Lys599Ter) n.469A>T c.636+29087A>T (n.636+29087A>T) | |
| 15 | g.48508624T>C | CA392340311 | FBN1 | c.1795A>G (p.Lys599Glu) n.469A>G c.636+29087A>G (n.636+29087A>G) | |
| 15 | g.48508624T>G | CA392340312 | FBN1 | c.1795A>C (p.Lys599Gln) n.469A>C c.636+29087A>C (n.636+29087A>C) | |
| 15 | g.48508625G>A | CA490027084 | FBN1 | c.1794C>T (p.Cys598=) n.468C>T c.636+29086C>T (n.636+29086C>T) | |
| 15 | g.48508625G>C | CA392340313 | FBN1 | c.1794C>G (p.Cys598Trp) n.468C>G c.636+29086C>G (n.636+29086C>G) | ClinVar dbSNP |
| 15 | g.48508625G= | CA2175529240 | FBN1 | c.1794C= (p.Cys598=) n.468C= c.636+29086C= (n.636+29086C=) | |
| 15 | g.48508625G>T | CA392340314 | FBN1 | c.1794C>A (p.Cys598Ter) n.468C>A c.636+29086C>A (n.636+29086C>A) | |
| 15 | g.48508625_48508626insAA | CA2695220312 | FBN1 | c.1793_1794insTT (p.Lys599SerfsTer27) n.467_468insTT c.636+29085_636+29086insTT (n.636+29085_636+29086insTT) | |
| 15 | g.48508626C>A | CA392340315 | FBN1 | c.1793G>T (p.Cys598Phe) n.467G>T c.636+29085G>T (n.636+29085G>T) | ClinVar dbSNP |
| 15 | g.48508626C= | CA2175529241 | FBN1 | c.1793G= (p.Cys598=) n.467G= c.636+29085G= (n.636+29085G=) | |
| 15 | g.48508626C>G | CA392340316 | FBN1 | c.1793G>C (p.Cys598Ser) n.467G>C c.636+29085G>C (n.636+29085G>C) | ClinVar dbSNP |
| 15 | g.48508626C>T | CA392340317 | FBN1 | c.1793G>A (p.Cys598Tyr) n.467G>A c.636+29085G>A (n.636+29085G>A) | ClinVar dbSNP |
| 15 | g.48508627A>C | CA392340318 | FBN1 | c.1792T>G (p.Cys598Gly) n.466T>G c.636+29084T>G (n.636+29084T>G) | ClinVar dbSNP |
| 15 | g.48508627A>G | CA392340319 | FBN1 | c.1792T>C (p.Cys598Arg) n.466T>C c.636+29084T>C (n.636+29084T>C) | ClinVar |
| 15 | g.48508627A>T | CA392340320 | FBN1 | c.1792T>A (p.Cys598Ser) n.466T>A c.636+29084T>A (n.636+29084T>A) | |
| 15 | g.48508629del | CA2499223010 | FBN1 | c.1792del (p.Cys598AlafsTer27) n.466del c.636+29084del (n.636+29084del) | ClinVar dbSNP |
| 15 | g.48508628A= | CA2175529242 | FBN1 | c.1791T= (p.Ile597=) n.465T= c.636+29083T= (n.636+29083T=) | |
| 15 | g.48508628A>C | CA392340321 | FBN1 | c.1791T>G (p.Ile597Met) n.465T>G c.636+29083T>G (n.636+29083T>G) | |
| 15 | g.48508628A>G | CA269553072 | FBN1 | c.1791T>C (p.Ile597=) n.465T>C c.636+29083T>C (n.636+29083T>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48508628A>T | CA490027085 | FBN1 | c.1791T>A (p.Ile597=) n.465T>A c.636+29083T>A (n.636+29083T>A) | |
| 15 | g.48508629A>C | CA392340324 | FBN1 | c.1790T>G (p.Ile597Ser) n.464T>G c.636+29082T>G (n.636+29082T>G) | |
| 15 | g.48508629A>G | CA392340323 | FBN1 | c.1790T>C (p.Ile597Thr) n.464T>C c.636+29082T>C (n.636+29082T>C) | |
| 15 | g.48508629A>T | CA392340322 | FBN1 | c.1790T>A (p.Ile597Asn) n.464T>A c.636+29082T>A (n.636+29082T>A) | |
| 15 | g.48508630T>A | CA392340325 | FBN1 | c.1789A>T (p.Ile597Phe) n.463A>T c.636+29081A>T (n.636+29081A>T) | |
| 15 | g.48508630T>C | CA392340326 | FBN1 | c.1789A>G (p.Ile597Val) n.463A>G c.636+29081A>G (n.636+29081A>G) | dbSNP |
| 15 | g.48508630T>G | CA392340327 | FBN1 | c.1789A>C (p.Ile597Leu) n.463A>C c.636+29081A>C (n.636+29081A>C) | gnomAD v4 |
| 15 | g.48508630T= | CA2175529243 | FBN1 | c.1789A= (p.Ile597=) n.463A= c.636+29081A= (n.636+29081A=) | |
| 15 | g.48508631A>C | CA392340328 | FBN1 | c.1788T>G (p.Cys596Trp) n.462T>G c.636+29080T>G (n.636+29080T>G) | |
| 15 | g.48508631A>G | CA490027086 | FBN1 | c.1788T>C (p.Cys596=) n.462T>C c.636+29080T>C (n.636+29080T>C) | gnomAD v4 |
| 15 | g.48508631A>T | CA392340329 | FBN1 | c.1788T>A (p.Cys596Ter) n.462T>A c.636+29080T>A (n.636+29080T>A) | ClinVar dbSNP |
| 15 | g.48508632C>A | CA392340330 | FBN1 | c.1787G>T (p.Cys596Phe) n.461G>T c.636+29079G>T (n.636+29079G>T) | |
| 15 | g.48508632C= | CA2175529244 | FBN1 | c.1787G= (p.Cys596=) n.461G= c.636+29079G= (n.636+29079G=) | |
| 15 | g.48508632C>G | CA392340331 | FBN1 | c.1787G>C (p.Cys596Ser) n.461G>C c.636+29079G>C (n.636+29079G>C) | |
| 15 | g.48508632C>T | CA392340332 | FBN1 | c.1787G>A (p.Cys596Tyr) n.461G>A c.636+29079G>A (n.636+29079G>A) | ClinVar dbSNP |
| 15 | g.48508633A= | CA2175529245 | FBN1 | c.1786T= (p.Cys596=) n.460T= c.636+29078T= (n.636+29078T=) | |
| 15 | g.48508633A>C | CA16603266 | FBN1 | c.1786T>G (p.Cys596Gly) n.460T>G c.636+29078T>G (n.636+29078T>G) | ClinVar dbSNP |
| 15 | g.48508633A>G | CA392340333 | FBN1 | c.1786T>C (p.Cys596Arg) n.460T>C c.636+29078T>C (n.636+29078T>C) | ClinVar dbSNP |
| 15 | g.48508633A>T | CA392340334 | FBN1 | c.1786T>A (p.Cys596Ser) n.460T>A c.636+29078T>A (n.636+29078T>A) | |
| 15 | g.48508634T>A | CA392340335 | FBN1 | c.1785A>T (p.Lys595Asn) n.459A>T c.636+29077A>T (n.636+29077A>T) | |
| 15 | g.48508634T>C | CA490027087 | FBN1 | c.1785A>G (p.Lys595=) n.459A>G c.636+29077A>G (n.636+29077A>G) | |
| 15 | g.48508634T>G | CA392340336 | FBN1 | c.1785A>C (p.Lys595Asn) n.459A>C c.636+29077A>C (n.636+29077A>C) | |
| 15 | g.48508636dup | CA2695220314 | FBN1 | c.1785dup (p.Cys596MetfsTer20) n.459dup c.636+29077dup (n.636+29077dup) | |
| 15 | g.48508636del | CA2695220313 | FBN1 | c.1785del (p.Lys595AsnfsTer30) n.459del c.636+29077del (n.636+29077del) | |
| 15 | g.48508635T>A | CA392340339 | FBN1 | c.1784A>T (p.Lys595Ile) n.458A>T c.636+29076A>T (n.636+29076A>T) | |
| 15 | g.48508635T>C | CA392340337 | FBN1 | c.1784A>G (p.Lys595Arg) n.458A>G c.636+29076A>G (n.636+29076A>G) | |
| 15 | g.48508635T>G | CA392340338 | FBN1 | c.1784A>C (p.Lys595Thr) n.458A>C c.636+29076A>C (n.636+29076A>C) | |
| 15 | g.48508636T>A | CA392340340 | FBN1 | c.1783A>T (p.Lys595Ter) n.457A>T c.636+29075A>T (n.636+29075A>T) | ClinVar dbSNP |
| 15 | g.48508636T>C | CA392340341 | FBN1 | c.1783A>G (p.Lys595Glu) n.457A>G c.636+29075A>G (n.636+29075A>G) | |
| 15 | g.48508636T>G | CA392340342 | FBN1 | c.1783A>C (p.Lys595Gln) n.457A>C c.636+29075A>C (n.636+29075A>C) | |
| 15 | g.48508636T= | CA2175529246 | FBN1 | c.1783A= (p.Lys595=) n.457A= c.636+29075A= (n.636+29075A=) | |
| 15 | g.48508636_48508637delinsTA | CA2175529247 | FBN1 | c.1782_1783delinsTA (p.Phe594=) n.456_457delinsTA c.636+29074_636+29075delinsTA (n.636+29074_636+29075delinsTA) | |
| 15 | g.48508637A>C | CA392340343 | FBN1 | c.1782T>G (p.Phe594Leu) n.456T>G c.636+29074T>G (n.636+29074T>G) | |
| 15 | g.48508637A>G | CA490027088 | FBN1 | c.1782T>C (p.Phe594=) n.456T>C c.636+29074T>C (n.636+29074T>C) | |
| 15 | g.48508637A>T | CA392340344 | FBN1 | c.1782T>A (p.Phe594Leu) n.456T>A c.636+29074T>A (n.636+29074T>A) | |
| 15 | g.48508640del | CA915946601 | FBN1 | c.1782del (p.Phe594LeufsTer?) n.456del c.636+29074del (n.636+29074del) | ClinVar dbSNP |
| 15 | g.48508638A>C | CA392340345 | FBN1 | c.1781T>G (p.Phe594Cys) n.455T>G c.636+29073T>G (n.636+29073T>G) | |
| 15 | g.48508638A>G | CA392340346 | FBN1 | c.1781T>C (p.Phe594Ser) n.455T>C c.636+29073T>C (n.636+29073T>C) | |
| 15 | g.48508638A>T | CA392340347 | FBN1 | c.1781T>A (p.Phe594Tyr) n.455T>A c.636+29073T>A (n.636+29073T>A) | |
| 15 | g.48508639A>C | CA392340348 | FBN1 | c.1780T>G (p.Phe594Val) n.454T>G c.636+29072T>G (n.636+29072T>G) | |
| 15 | g.48508639A>G | CA392340349 | FBN1 | c.1780T>C (p.Phe594Leu) n.454T>C c.636+29072T>C (n.636+29072T>C) | |
| 15 | g.48508639A>T | CA392340350 | FBN1 | c.1780T>A (p.Phe594Ile) n.454T>A c.636+29072T>A (n.636+29072T>A) | |
| 15 | g.48508640A= | CA2175529248 | FBN1 | c.1779T= (p.Ser593=) n.453T= c.636+29071T= (n.636+29071T=) | |
| 15 | g.48508640A>C | CA392340354 | FBN1 | c.1779T>G (p.Ser593Arg) n.453T>G c.636+29071T>G (n.636+29071T>G) | |
| 15 | g.48508640A>G | CA16607104 | FBN1 | c.1779T>C (p.Ser593=) n.453T>C c.636+29071T>C (n.636+29071T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48508640A>T | CA392340351 | FBN1 | c.1779T>A (p.Ser593Arg) n.453T>A c.636+29071T>A (n.636+29071T>A) | gnomAD v4 |
| 15 | g.48508641C>A | CA392340357 | FBN1 | c.1778G>T (p.Ser593Ile) n.452G>T c.636+29070G>T (n.636+29070G>T) | |
| 15 | g.48508641C= | CA2175529249 | FBN1 | c.1778G= (p.Ser593=) n.452G= c.636+29070G= (n.636+29070G=) | |
| 15 | g.48508641C>G | CA392340360 | FBN1 | c.1778G>C (p.Ser593Thr) n.452G>C c.636+29070G>C (n.636+29070G>C) | |
| 15 | g.48508641C>T | CA392340358 | FBN1 | c.1778G>A (p.Ser593Asn) n.452G>A c.636+29070G>A (n.636+29070G>A) | dbSNP gnomAD v4 |
| 15 | g.48508642T>A | CA392340362 | FBN1 | c.1777A>T (p.Ser593Cys) n.451A>T c.636+29069A>T (n.636+29069A>T) | |
| 15 | g.48508642T>C | CA392340364 | FBN1 | c.1777A>G (p.Ser593Gly) n.451A>G c.636+29069A>G (n.636+29069A>G) | gnomAD v4 |
| 15 | g.48508642T>G | CA392340366 | FBN1 | c.1777A>C (p.Ser593Arg) n.451A>C c.636+29069A>C (n.636+29069A>C) | |
| 15 | g.48508643G>A | CA490027089 | FBN1 | c.1776C>T (p.Gly592=) n.450C>T c.636+29068C>T (n.636+29068C>T) | gnomAD v4 |
| 15 | g.48508643G>C | CA045885 | FBN1 | c.1776C>G (p.Gly592=) n.450C>G c.636+29068C>G (n.636+29068C>G) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.48508643G= | CA2175529250 | FBN1 | c.1776C= (p.Gly592=) n.450C= c.636+29068C= (n.636+29068C=) | |
| 15 | g.48508643G>T | CA490027090 | FBN1 | c.1776C>A (p.Gly592=) n.450C>A c.636+29068C>A (n.636+29068C>A) | |
| 15 | g.48508644C>A | CA392340373 | FBN1 | c.1775G>T (p.Gly592Val) n.449G>T c.636+29067G>T (n.636+29067G>T) | |
| 15 | g.48508644C= | CA2175529251 | FBN1 | c.1775G= (p.Gly592=) n.449G= c.636+29067G= (n.636+29067G=) | |
| 15 | g.48508644C>G | CA392340380 | FBN1 | c.1775G>C (p.Gly592Ala) n.449G>C c.636+29067G>C (n.636+29067G>C) | |
| 15 | g.48508644C>T | CA392340383 | FBN1 | c.1775G>A (p.Gly592Asp) n.449G>A c.636+29067G>A (n.636+29067G>A) | ClinVar dbSNP |
| 15 | g.48508645C>A | CA16606976 | FBN1 | c.1774G>T (p.Gly592Cys) n.448G>T c.636+29066G>T (n.636+29066G>T) | ClinVar dbSNP |
| 15 | g.48508645C= | CA2175529252 | FBN1 | c.1774G= (p.Gly592=) n.448G= c.636+29066G= (n.636+29066G=) | |
| 15 | g.48508645C>G | CA392340386 | FBN1 | c.1774G>C (p.Gly592Arg) n.448G>C c.636+29066G>C (n.636+29066G>C) | |
| 15 | g.48508645C>T | CA392340387 | FBN1 | c.1774G>A (p.Gly592Ser) n.448G>A c.636+29066G>A (n.636+29066G>A) | |
| 15 | g.48508646A= | CA2175529253 | FBN1 | c.1773T= (p.Asp591=) n.447T= c.636+29065T= (n.636+29065T=) | |
| 15 | g.48508646A>C | CA392340390 | FBN1 | c.1773T>G (p.Asp591Glu) n.447T>G c.636+29065T>G (n.636+29065T>G) | |
| 15 | g.48508646A>G | CA269553083 | FBN1 | c.1773T>C (p.Asp591=) n.447T>C c.636+29065T>C (n.636+29065T>C) | dbSNP gnomAD v4 |
| 15 | g.48508646A>T | CA392340392 | FBN1 | c.1773T>A (p.Asp591Glu) n.447T>A c.636+29065T>A (n.636+29065T>A) | ClinVar |
| 15 | g.48508647T>A | CA392340400 | FBN1 | c.1772A>T (p.Asp591Val) n.446A>T c.636+29064A>T (n.636+29064A>T) | |
| 15 | g.48508647T>C | CA392340395 | FBN1 | c.1772A>G (p.Asp591Gly) n.446A>G c.636+29064A>G (n.636+29064A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48508647T>G | CA392340397 | FBN1 | c.1772A>C (p.Asp591Ala) n.446A>C c.636+29064A>C (n.636+29064A>C) | |
| 15 | g.48508647T= | CA2175529254 | FBN1 | c.1772A= (p.Asp591=) n.446A= c.636+29064A= (n.636+29064A=) | |
| 15 | g.48508648C>A | CA392340403 | FBN1 | c.1771G>T (p.Asp591Tyr) n.445G>T c.636+29063G>T (n.636+29063G>T) | |
| 15 | g.48508648C>G | CA392340405 | FBN1 | c.1771G>C (p.Asp591His) n.445G>C c.636+29063G>C (n.636+29063G>C) | |
| 15 | g.48508648C>T | CA392340408 | FBN1 | c.1771G>A (p.Asp591Asn) n.445G>A c.636+29063G>A (n.636+29063G>A) | |
| 15 | g.48508649T>A | CA392340409 | FBN1 | c.1770A>T (p.Glu590Asp) n.444A>T c.636+29062A>T (n.636+29062A>T) | |
| 15 | g.48508649T>C | CA490027091 | FBN1 | c.1770A>G (p.Glu590=) n.444A>G c.636+29062A>G (n.636+29062A>G) | |
| 15 | g.48508649T>G | CA392340410 | FBN1 | c.1770A>C (p.Glu590Asp) n.444A>C c.636+29062A>C (n.636+29062A>C) | |
| 15 | g.48508650T>A | CA392340413 | FBN1 | c.1769A>T (p.Glu590Val) n.443A>T c.636+29061A>T (n.636+29061A>T) | |
| 15 | g.48508650T>C | CA392340415 | FBN1 | c.1769A>G (p.Glu590Gly) n.443A>G c.636+29061A>G (n.636+29061A>G) | |
| 15 | g.48508650T>G | CA392340417 | FBN1 | c.1769A>C (p.Glu590Ala) n.443A>C c.636+29061A>C (n.636+29061A>C) | |
| 15 | g.48508651C>A | CA392340421 | FBN1 | c.1768G>T (p.Glu590Ter) n.442G>T c.636+29060G>T (n.636+29060G>T) | |
| 15 | g.48508651C>G | CA392340423 | FBN1 | c.1768G>C (p.Glu590Gln) n.442G>C c.636+29060G>C (n.636+29060G>C) | |
| 15 | g.48508651C>T | CA392340425 | FBN1 | c.1768G>A (p.Glu590Lys) n.442G>A c.636+29060G>A (n.636+29060G>A) | |
| 15 | g.48508652A>C | CA392340431 | FBN1 | c.1767T>G (p.Asn589Lys) n.441T>G c.636+29059T>G (n.636+29059T>G) | |
| 15 | g.48508652A>G | CA490027092 | FBN1 | c.1767T>C (p.Asn589=) n.441T>C c.636+29059T>C (n.636+29059T>C) | |
| 15 | g.48508652A>T | CA392340429 | FBN1 | c.1767T>A (p.Asn589Lys) n.441T>A c.636+29059T>A (n.636+29059T>A) | |
| 15 | g.48508653T>A | CA392340433 | FBN1 | c.1766A>T (p.Asn589Ile) n.440A>T c.636+29058A>T (n.636+29058A>T) | |
| 15 | g.48508653T>C | CA392340436 | FBN1 | c.1766A>G (p.Asn589Ser) n.440A>G c.636+29058A>G (n.636+29058A>G) | ClinVar dbSNP |
| 15 | g.48508653T>G | CA392340438 | FBN1 | c.1766A>C (p.Asn589Thr) n.440A>C c.636+29058A>C (n.636+29058A>C) | |
| 15 | g.48508653T= | CA2175529255 | FBN1 | c.1766A= (p.Asn589=) n.440A= c.636+29058A= (n.636+29058A=) | |
| 15 | g.48508654T>A | CA392340442 | FBN1 | c.1765A>T (p.Asn589Tyr) n.439A>T c.636+29057A>T (n.636+29057A>T) | |
| 15 | g.48508654T>C | CA392340443 | FBN1 | c.1765A>G (p.Asn589Asp) n.439A>G c.636+29057A>G (n.636+29057A>G) | |
| 15 | g.48508654T>G | CA392340445 | FBN1 | c.1765A>C (p.Asn589His) n.439A>C c.636+29057A>C (n.636+29057A>C) | |
| 15 | g.48508655G>A | CA490027093 | FBN1 | c.1764C>T (p.Ile588=) n.438C>T c.636+29056C>T (n.636+29056C>T) | |
| 15 | g.48508655G>C | CA392340449 | FBN1 | c.1764C>G (p.Ile588Met) n.438C>G c.636+29056C>G (n.636+29056C>G) | gnomAD v4 |
| 15 | g.48508655G>T | CA490027094 | FBN1 | c.1764C>A (p.Ile588=) n.438C>A c.636+29056C>A (n.636+29056C>A) | |
| 15 | g.48508656A>C | CA392340456 | FBN1 | c.1763T>G (p.Ile588Ser) n.437T>G c.636+29055T>G (n.636+29055T>G) | |
| 15 | g.48508656A>G | CA392340451 | FBN1 | c.1763T>C (p.Ile588Thr) n.437T>C c.636+29055T>C (n.636+29055T>C) | |
| 15 | g.48508656A>T | CA392340453 | FBN1 | c.1763T>A (p.Ile588Asn) n.437T>A c.636+29055T>A (n.636+29055T>A) | |
| 15 | g.48508657T>A | CA392340459 | FBN1 | c.1762A>T (p.Ile588Phe) n.436A>T c.636+29054A>T (n.636+29054A>T) | |
| 15 | g.48508657T>C | CA392340460 | FBN1 | c.1762A>G (p.Ile588Val) n.436A>G c.636+29054A>G (n.636+29054A>G) | COSMIC |
| 15 | g.48508657T>G | CA392340463 | FBN1 | c.1762A>C (p.Ile588Leu) n.436A>C c.636+29054A>C (n.636+29054A>C) | |
| 15 | g.48508658A= | CA2175529256 | FBN1 | c.1761T= (p.Cys587=) n.435T= c.636+29053T= (n.636+29053T=) | |
| 15 | g.48508658A>C | CA392340465 | FBN1 | c.1761T>G (p.Cys587Trp) n.435T>G c.636+29053T>G (n.636+29053T>G) | ClinVar |
| 15 | g.48508658A>G | CA16614449 | FBN1 | c.1761T>C (p.Cys587=) n.435T>C c.636+29053T>C (n.636+29053T>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48508658A>T | CA392340467 | FBN1 | c.1761T>A (p.Cys587Ter) n.435T>A c.636+29053T>A (n.636+29053T>A) | |
| 15 | g.48508659C>A | CA392340473 | FBN1 | c.1760G>T (p.Cys587Phe) n.434G>T c.636+29052G>T (n.636+29052G>T) | |
| 15 | g.48508659C= | CA2175529257 | FBN1 | c.1760G= (p.Cys587=) n.434G= c.636+29052G= (n.636+29052G=) | |
| 15 | g.48508659C>G | CA392340476 | FBN1 | c.1760G>C (p.Cys587Ser) n.434G>C c.636+29052G>C (n.636+29052G>C) | |
| 15 | g.48508659C>T | CA392340475 | FBN1 | c.1760G>A (p.Cys587Tyr) n.434G>A c.636+29052G>A (n.636+29052G>A) | ClinVar dbSNP |
| 15 | g.48508660A= | CA2175529258 | FBN1 | c.1759T= (p.Cys587=) n.433T= c.636+29051T= (n.636+29051T=) | |
| 15 | g.48508660A>C | CA012547 | FBN1 | c.1759T>G (p.Cys587Gly) n.433T>G c.636+29051T>G (n.636+29051T>G) | ClinVar dbSNP |
| 15 | g.48508660A>G | CA392340481 | FBN1 | c.1759T>C (p.Cys587Arg) n.433T>C c.636+29051T>C (n.636+29051T>C) | ClinVar dbSNP |
| 15 | g.48508660A>T | CA392340483 | FBN1 | c.1759T>A (p.Cys587Ser) n.433T>A c.636+29051T>A (n.636+29051T>A) | |
| 15 | g.48508661C>A | CA392340486 | FBN1 | c.1758G>T (p.Met586Ile) n.432G>T c.636+29050G>T (n.636+29050G>T) | |
| 15 | g.48508661C>G | CA392340488 | FBN1 | c.1758G>C (p.Met586Ile) n.432G>C c.636+29050G>C (n.636+29050G>C) | |
| 15 | g.48508661C>T | CA392340490 | FBN1 | c.1758G>A (p.Met586Ile) n.432G>A c.636+29050G>A (n.636+29050G>A) | |
| 15 | g.48508662A>C | CA392340492 | FBN1 | c.1757T>G (p.Met586Arg) n.431T>G c.636+29049T>G (n.636+29049T>G) | |
| 15 | g.48508662A>G | CA392340494 | FBN1 | c.1757T>C (p.Met586Thr) n.431T>C c.636+29049T>C (n.636+29049T>C) | |
| 15 | g.48508662A>T | CA392340496 | FBN1 | c.1757T>A (p.Met586Lys) n.431T>A c.636+29049T>A (n.636+29049T>A) | |
| 15 | g.48508663T>A | CA392340498 | FBN1 | c.1756A>T (p.Met586Leu) n.430A>T c.636+29048A>T (n.636+29048A>T) | |
| 15 | g.48508663T>C | CA392340499 | FBN1 | c.1756A>G (p.Met586Val) n.430A>G c.636+29048A>G (n.636+29048A>G) | gnomAD v4 |
| 15 | g.48508663T>G | CA392340500 | FBN1 | c.1756A>C (p.Met586Leu) n.430A>C c.636+29048A>C (n.636+29048A>C) | |
| 15 | g.48508664T>A | CA490027095 | FBN1 | c.1755A>T (p.Gly585=) n.429A>T c.636+29047A>T (n.636+29047A>T) | |
| 15 | g.48508664T>C | CA490027096 | FBN1 | c.1755A>G (p.Gly585=) n.429A>G c.636+29047A>G (n.636+29047A>G) | |
| 15 | g.48508664T>G | CA490027097 | FBN1 | c.1755A>C (p.Gly585=) n.429A>C c.636+29047A>C (n.636+29047A>C) | |
| 15 | g.48508665C>A | CA392340503 | FBN1 | c.1754G>T (p.Gly585Val) n.428G>T c.636+29046G>T (n.636+29046G>T) | |
| 15 | g.48508665C= | CA2175529259 | FBN1 | c.1754G= (p.Gly585=) n.428G= c.636+29046G= (n.636+29046G=) | |
| 15 | g.48508665C>G | CA16614530 | FBN1 | c.1754G>C (p.Gly585Ala) n.428G>C c.636+29046G>C (n.636+29046G>C) | ClinVar dbSNP |
| 15 | g.48508665C>T | CA392340502 | FBN1 | c.1754G>A (p.Gly585Glu) n.428G>A c.636+29046G>A (n.636+29046G>A) | ClinVar dbSNP |
| 15 | g.48508666C>A | CA392340508 | FBN1 | c.1753G>T (p.Gly585Ter) n.427G>T c.636+29045G>T (n.636+29045G>T) | |
| 15 | g.48508666C= | CA2175529260 | FBN1 | c.1753G= (p.Gly585=) n.427G= c.636+29045G= (n.636+29045G=) | |
| 15 | g.48508666C>G | CA392340506 | FBN1 | c.1753G>C (p.Gly585Arg) n.427G>C c.636+29045G>C (n.636+29045G>C) | |
| 15 | g.48508666C>T | CA392340510 | FBN1 | c.1753G>A (p.Gly585Arg) n.427G>A c.636+29045G>A (n.636+29045G>A) | ClinVar dbSNP |
| 15 | g.48508667A>C | CA392340512 | FBN1 | c.1752T>G (p.Asn584Lys) n.426T>G c.636+29044T>G (n.636+29044T>G) | |
| 15 | g.48508667A>G | CA490027098 | FBN1 | c.1752T>C (p.Asn584=) n.426T>C c.636+29044T>C (n.636+29044T>C) | gnomAD v4 |
| 15 | g.48508667A>T | CA392340514 | FBN1 | c.1752T>A (p.Asn584Lys) n.426T>A c.636+29044T>A (n.636+29044T>A) | ClinVar |
| 15 | g.48508668T>A | CA392340515 | FBN1 | c.1751A>T (p.Asn584Ile) n.425A>T c.636+29043A>T (n.636+29043A>T) | |
| 15 | g.48508668T>C | CA392340518 | FBN1 | c.1751A>G (p.Asn584Ser) n.425A>G c.636+29043A>G (n.636+29043A>G) | ClinVar dbSNP |
| 15 | g.48508668T>G | CA392340516 | FBN1 | c.1751A>C (p.Asn584Thr) n.425A>C c.636+29043A>C (n.636+29043A>C) | |
| 15 | g.48508668T= | CA2175529261 | FBN1 | c.1751A= (p.Asn584=) n.425A= c.636+29043A= (n.636+29043A=) | |
| 15 | g.48508669T>A | CA392340522 | FBN1 | c.1750A>T (p.Asn584Tyr) n.424A>T c.636+29042A>T (n.636+29042A>T) | |
| 15 | g.48508669T>C | CA392340524 | FBN1 | c.1750A>G (p.Asn584Asp) n.424A>G c.636+29042A>G (n.636+29042A>G) | |
| 15 | g.48508669T>G | CA392340527 | FBN1 | c.1750A>C (p.Asn584His) n.424A>C c.636+29042A>C (n.636+29042A>C) | |
| 15 | g.48508670A>C | CA490027099 | FBN1 | c.1749T>G (p.Leu583=) n.423T>G c.636+29041T>G (n.636+29041T>G) | |
| 15 | g.48508670A>G | CA490027100 | FBN1 | c.1749T>C (p.Leu583=) n.423T>C c.636+29041T>C (n.636+29041T>C) | |
| 15 | g.48508670A>T | CA490027101 | FBN1 | c.1749T>A (p.Leu583=) n.423T>A c.636+29041T>A (n.636+29041T>A) | |
| 15 | g.48508671A>C | CA392340529 | FBN1 | c.1748T>G (p.Leu583Arg) n.422T>G c.636+29040T>G (n.636+29040T>G) | |
| 15 | g.48508671A>G | CA392340531 | FBN1 | c.1748T>C (p.Leu583Pro) n.422T>C c.636+29040T>C (n.636+29040T>C) | |
| 15 | g.48508671A>T | CA392340533 | FBN1 | c.1748T>A (p.Leu583His) n.422T>A c.636+29040T>A (n.636+29040T>A) | |
| 15 | g.48508672G>A | CA045849 | FBN1 | c.1747C>T (p.Leu583Phe) n.421C>T c.636+29039C>T (n.636+29039C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48508672G>C | CA392340536 | FBN1 | c.1747C>G (p.Leu583Val) n.421C>G c.636+29039C>G (n.636+29039C>G) | |
| 15 | g.48508672G= | CA2175529262 | FBN1 | c.1747C= (p.Leu583=) n.421C= c.636+29039C= (n.636+29039C=) | |
| 15 | g.48508672G>T | CA392340538 | FBN1 | c.1747C>A (p.Leu583Ile) n.421C>A c.636+29039C>A (n.636+29039C>A) | |
| 15 | g.48508673G>A | CA012537 | FBN1 | c.1746C>T (p.Cys582=) n.420C>T c.636+29038C>T (n.636+29038C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48508673G>C | CA392340541 | FBN1 | c.1746C>G (p.Cys582Trp) n.420C>G c.636+29038C>G (n.636+29038C>G) | ClinVar |
| 15 | g.48508673G= | CA2175529263 | FBN1 | c.1746C= (p.Cys582=) n.420C= c.636+29038C= (n.636+29038C=) | |
| 15 | g.48508673G>T | CA392340548 | FBN1 | c.1746C>A (p.Cys582Ter) n.420C>A c.636+29038C>A (n.636+29038C>A) | |
| 15 | g.48508673_48508675delinsGCA | CA2175529264 | FBN1 | c.1744_1746delinsTGC (p.Cys582=) n.418_420delinsTGC c.636+29036_636+29038delinsTGC (n.636+29036_636+29038delinsTGC) | |
| 15 | g.48508674C>A | CA392340552 | FBN1 | c.1745G>T (p.Cys582Phe) n.419G>T c.636+29037G>T (n.636+29037G>T) | |
| 15 | g.48508674C>G | CA392340559 | FBN1 | c.1745G>C (p.Cys582Ser) n.419G>C c.636+29037G>C (n.636+29037G>C) | |
| 15 | g.48508674C>T | CA392340556 | FBN1 | c.1745G>A (p.Cys582Tyr) n.419G>A c.636+29037G>A (n.636+29037G>A) | ClinVar dbSNP |
| 15 | g.48508676_48508677del | CA353659 | FBN1 | c.1744_1745del (p.Cys582ProfsTer2) n.418_419del c.636+29036_636+29037del (n.636+29036_636+29037del) | ClinVar dbSNP |
| 15 | g.48508675A>C | CA392340562 | FBN1 | c.1744T>G (p.Cys582Gly) n.418T>G c.636+29036T>G (n.636+29036T>G) | ClinVar |
| 15 | g.48508675A>G | CA392340564 | FBN1 | c.1744T>C (p.Cys582Arg) n.418T>C c.636+29036T>C (n.636+29036T>C) | ClinVar dbSNP |
| 15 | g.48508675A>T | CA392340566 | FBN1 | c.1744T>A (p.Cys582Ser) n.418T>A c.636+29036T>A (n.636+29036T>A) | |
| 15 | g.48508676C>A | CA392340568 | FBN1 | c.1743G>T (p.Met581Ile) n.417G>T c.636+29035G>T (n.636+29035G>T) | |
| 15 | g.48508676C= | CA2175529265 | FBN1 | c.1743G= (p.Met581=) n.417G= c.636+29035G= (n.636+29035G=) | |
| 15 | g.48508676C>G | CA392340570 | FBN1 | c.1743G>C (p.Met581Ile) n.417G>C c.636+29035G>C (n.636+29035G>C) | |
| 15 | g.48508676C>T | CA392340572 | FBN1 | c.1743G>A (p.Met581Ile) n.417G>A c.636+29035G>A (n.636+29035G>A) | ClinVar dbSNP gnomAD v4 |