| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48456691G>A | CA015774 | FBN1 | c.5368C>T (p.Arg1790Ter) n.4042C>T c.367C>T (p.Arg123Ter) c.*1131C>T (n.*1131C>T) c.675C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48456691G>C | CA392346040 | FBN1 | c.5368C>G (p.Arg1790Gly) n.4042C>G c.367C>G (p.Arg123Gly) c.*1131C>G (n.*1131C>G) c.675C>G | |
| 15 | g.48456691G= | CA2175509458 | FBN1 | c.5368C= (p.Arg1790=) n.4042C= c.367C= (p.Arg123=) c.*1131C= (n.*1131C=) c.675C= | |
| 15 | g.48456691G>T | CA490023963 | FBN1 | c.5368C>A (p.Arg1790=) n.4042C>A c.367C>A (p.Arg123=) c.*1131C>A (n.*1131C>A) c.675C>A | |
| 15 | g.48456692G>A | CA490023964 | FBN1 | c.5367C>T (p.Phe1789=) n.4041C>T c.366C>T (p.Phe122=) c.*1130C>T (n.*1130C>T) c.674C>T | ClinVar COSMIC |
| 15 | g.48456692G>C | CA392346042 | FBN1 | c.5367C>G (p.Phe1789Leu) n.4041C>G c.366C>G (p.Phe122Leu) c.*1130C>G (n.*1130C>G) c.674C>G | |
| 15 | g.48456692G>T | CA392346044 | FBN1 | c.5367C>A (p.Phe1789Leu) n.4041C>A c.366C>A (p.Phe122Leu) c.*1130C>A (n.*1130C>A) c.674C>A | |
| 15 | g.48456693A>C | CA392346045 | FBN1 | c.5366T>G (p.Phe1789Cys) n.4040T>G c.365T>G (p.Phe122Cys) c.*1129T>G (n.*1129T>G) c.673T>G | |
| 15 | g.48456693A>G | CA392346048 | FBN1 | c.5366T>C (p.Phe1789Ser) n.4040T>C c.365T>C (p.Phe122Ser) c.*1129T>C (n.*1129T>C) c.673T>C | |
| 15 | g.48456693A>T | CA392346050 | FBN1 | c.5366T>A (p.Phe1789Tyr) n.4040T>A c.365T>A (p.Phe122Tyr) c.*1129T>A (n.*1129T>A) c.673T>A | |
| 15 | g.48456694A= | CA2175509466 | FBN1 | c.5365T= (p.Phe1789=) n.4039T= c.364T= (p.Phe122=) c.*1128T= (n.*1128T=) c.672T= | |
| 15 | g.48456694A>C | CA392346052 | FBN1 | c.5365T>G (p.Phe1789Val) n.4039T>G c.364T>G (p.Phe122Val) c.*1128T>G (n.*1128T>G) c.672T>G | |
| 15 | g.48456694A>G | CA392346055 | FBN1 | c.5365T>C (p.Phe1789Leu) n.4039T>C c.364T>C (p.Phe122Leu) c.*1128T>C (n.*1128T>C) c.672T>C | |
| 15 | g.48456694A>T | CA392346057 | FBN1 | c.5365T>A (p.Phe1789Ile) n.4039T>A c.364T>A (p.Phe122Ile) c.*1128T>A (n.*1128T>A) c.672T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48456694_48456697delinsAGCT | CA2175509465 | FBN1 | c.5362_5365delinsAGCT (p.Ser1788=) n.4036_4039delinsAGCT c.361_364delinsAGCT (p.Ser121=) c.*1125_*1128delinsAGCT (n.*1125_*1128delinsAGCT) c.669_672delinsAGCT | |
| 15 | g.48456695G>A | CA490023965 | FBN1 | c.5364C>T (p.Ser1788=) n.4038C>T c.363C>T (p.Ser121=) c.*1127C>T (n.*1127C>T) c.671C>T | gnomAD v4 |
| 15 | g.48456695G>C | CA392346065 | FBN1 | c.5364C>G (p.Ser1788Arg) n.4038C>G c.363C>G (p.Ser121Arg) c.*1127C>G (n.*1127C>G) c.671C>G | |
| 15 | g.48456695G>T | CA392346059 | FBN1 | c.5364C>A (p.Ser1788Arg) n.4038C>A c.363C>A (p.Ser121Arg) c.*1127C>A (n.*1127C>A) c.671C>A | |
| 15 | g.48456695_48456697delinsAGTC | CA891844494 | FBN1 | c.5362_5364delinsGACT (p.Ser1788AspfsTer5) n.4036_4038delinsGACT c.361_363delinsGACT (p.Ser121AspfsTer5) c.*1125_*1127delinsGACT (n.*1125_*1127delinsGACT) c.669_671delinsGACT | ClinVar dbSNP |
| 15 | g.48456696C>A | CA392346068 | FBN1 | c.5363G>T (p.Ser1788Ile) n.4037G>T c.362G>T (p.Ser121Ile) c.*1126G>T (n.*1126G>T) c.670G>T | COSMIC |
| 15 | g.48456696C= | CA2175509482 | FBN1 | c.5363G= (p.Ser1788=) n.4037G= c.362G= (p.Ser121=) c.*1126G= (n.*1126G=) c.670G= | |
| 15 | g.48456696C>G | CA392346073 | FBN1 | c.5363G>C (p.Ser1788Thr) n.4037G>C c.362G>C (p.Ser121Thr) c.*1126G>C (n.*1126G>C) c.670G>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48456696C>T | CA392346071 | FBN1 | c.5363G>A (p.Ser1788Asn) n.4037G>A c.362G>A (p.Ser121Asn) c.*1126G>A (n.*1126G>A) c.670G>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.48456697T>A | CA392346076 | FBN1 | c.5362A>T (p.Ser1788Cys) n.4036A>T c.361A>T (p.Ser121Cys) c.*1125A>T (n.*1125A>T) c.669A>T | |
| 15 | g.48456697T>C | CA392346078 | FBN1 | c.5362A>G (p.Ser1788Gly) n.4036A>G c.361A>G (p.Ser121Gly) c.*1125A>G (n.*1125A>G) c.669A>G | |
| 15 | g.48456697T>G | CA392346080 | FBN1 | c.5362A>C (p.Ser1788Arg) n.4036A>C c.361A>C (p.Ser121Arg) c.*1125A>C (n.*1125A>C) c.669A>C | |
| 15 | g.48456698G>A | CA490023966 | FBN1 | c.5361C>T (p.Gly1787=) n.4035C>T c.360C>T (p.Gly120=) c.*1124C>T (n.*1124C>T) c.668C>T | |
| 15 | g.48456698G>C | CA490023967 | FBN1 | c.5361C>G (p.Gly1787=) n.4035C>G c.360C>G (p.Gly120=) c.*1124C>G (n.*1124C>G) c.668C>G | |
| 15 | g.48456698G>T | CA490023968 | FBN1 | c.5361C>A (p.Gly1787=) n.4035C>A c.360C>A (p.Gly120=) c.*1124C>A (n.*1124C>A) c.668C>A | |
| 15 | g.48456699C>A | CA392346084 | FBN1 | c.5360G>T (p.Gly1787Val) n.4034G>T c.359G>T (p.Gly120Val) c.*1123G>T (n.*1123G>T) c.667G>T | |
| 15 | g.48456699C>G | CA392346085 | FBN1 | c.5360G>C (p.Gly1787Ala) n.4034G>C c.359G>C (p.Gly120Ala) c.*1123G>C (n.*1123G>C) c.667G>C | |
| 15 | g.48456699C>T | CA392346087 | FBN1 | c.5360G>A (p.Gly1787Asp) n.4034G>A c.359G>A (p.Gly120Asp) c.*1123G>A (n.*1123G>A) c.667G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48456700C>A | CA392346089 | FBN1 | c.5359G>T (p.Gly1787Cys) n.4033G>T c.358G>T (p.Gly120Cys) c.*1122G>T (n.*1122G>T) c.666G>T | ClinVar |
| 15 | g.48456700C>G | CA392346091 | FBN1 | c.5359G>C (p.Gly1787Arg) n.4033G>C c.358G>C (p.Gly120Arg) c.*1122G>C (n.*1122G>C) c.666G>C | |
| 15 | g.48456700C>T | CA392346094 | FBN1 | c.5359G>A (p.Gly1787Ser) n.4033G>A c.358G>A (p.Gly120Ser) c.*1122G>A (n.*1122G>A) c.666G>A | |
| 15 | g.48456701A= | CA2175509486 | FBN1 | c.5358T= (p.Val1786=) n.4032T= c.357T= (p.Val119=) c.*1121T= (n.*1121T=) c.665T= | |
| 15 | g.48456701A>C | CA490023970 | FBN1 | c.5358T>G (p.Val1786=) n.4032T>G c.357T>G (p.Val119=) c.*1121T>G (n.*1121T>G) c.665T>G | |
| 15 | g.48456701A>G | CA16607090 | FBN1 | c.5358T>C (p.Val1786=) n.4032T>C c.357T>C (p.Val119=) c.*1121T>C (n.*1121T>C) c.665T>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.48456701A>T | CA490023969 | FBN1 | c.5358T>A (p.Val1786=) n.4032T>A c.357T>A (p.Val119=) c.*1121T>A (n.*1121T>A) c.665T>A | |
| 15 | g.48456702A>C | CA392346097 | FBN1 | c.5357T>G (p.Val1786Gly) n.4031T>G c.356T>G (p.Val119Gly) c.*1120T>G (n.*1120T>G) c.664T>G | gnomAD v4 |
| 15 | g.48456702A>G | CA392346100 | FBN1 | c.5357T>C (p.Val1786Ala) n.4031T>C c.356T>C (p.Val119Ala) c.*1120T>C (n.*1120T>C) c.664T>C | gnomAD v4 |
| 15 | g.48456702A>T | CA392346102 | FBN1 | c.5357T>A (p.Val1786Asp) n.4031T>A c.356T>A (p.Val119Asp) c.*1120T>A (n.*1120T>A) c.664T>A | |
| 15 | g.48456703C>A | CA392346111 | FBN1 | c.5356G>T (p.Val1786Phe) n.4030G>T c.355G>T (p.Val119Phe) c.*1119G>T (n.*1119G>T) c.663G>T | |
| 15 | g.48456703C= | CA2175509492 | FBN1 | c.5356G= (p.Val1786=) n.4030G= c.355G= (p.Val119=) c.*1119G= (n.*1119G=) c.663G= | |
| 15 | g.48456703C>G | CA392346106 | FBN1 | c.5356G>C (p.Val1786Leu) n.4030G>C c.355G>C (p.Val119Leu) c.*1119G>C (n.*1119G>C) c.663G>C | dbSNP gnomAD v4 |
| 15 | g.48456703C>T | CA392346108 | FBN1 | c.5356G>A (p.Val1786Ile) n.4030G>A c.355G>A (p.Val119Ile) c.*1119G>A (n.*1119G>A) c.663G>A | |
| 15 | g.48456704C>A | CA392346115 | FBN1 | c.5355G>T (p.Met1785Ile) n.4029G>T c.354G>T (p.Met118Ile) c.*1118G>T (n.*1118G>T) c.662G>T | ClinVar dbSNP |
| 15 | g.48456704C= | CA2175509496 | FBN1 | c.5355G= (p.Met1785=) n.4029G= c.354G= (p.Met118=) c.*1118G= (n.*1118G=) c.662G= | |
| 15 | g.48456704C>G | CA392346118 | FBN1 | c.5355G>C (p.Met1785Ile) n.4029G>C c.354G>C (p.Met118Ile) c.*1118G>C (n.*1118G>C) c.662G>C | |
| 15 | g.48456704C>T | CA392346120 | FBN1 | c.5355G>A (p.Met1785Ile) n.4029G>A c.354G>A (p.Met118Ile) c.*1118G>A (n.*1118G>A) c.662G>A | gnomAD v4 |