| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128335555C>A | CA360758111 | FBN2 | n.531G>T n.612G>T c.3747G>T (p.Met1249Ile) c.297G>T (p.Met99Ile) c.3648G>T (p.Met1216Ile) c.3744G>T (p.Met1248Ile) c.3594G>T (p.Met1198Ile) | |
| 5 | g.128335555C>G | CA360758112 | FBN2 | n.531G>C n.612G>C c.3747G>C (p.Met1249Ile) c.297G>C (p.Met99Ile) c.3648G>C (p.Met1216Ile) c.3744G>C (p.Met1248Ile) c.3594G>C (p.Met1198Ile) | |
| 5 | g.128335555C>T | CA360758113 | FBN2 | n.531G>A n.612G>A c.3747G>A (p.Met1249Ile) c.297G>A (p.Met99Ile) c.3648G>A (p.Met1216Ile) c.3744G>A (p.Met1248Ile) c.3594G>A (p.Met1198Ile) | gnomAD v4 COSMIC COSMIC |
| 5 | g.128335556A= | CA1581269632 | FBN2 | n.530T= n.611T= c.3746T= (p.Met1249=) c.296T= (p.Met99=) c.3647T= (p.Met1216=) c.3743T= (p.Met1248=) c.3593T= (p.Met1198=) | |
| 5 | g.128335556A>C | CA360758114 | FBN2 | n.530T>G n.611T>G c.3746T>G (p.Met1249Arg) c.296T>G (p.Met99Arg) c.3647T>G (p.Met1216Arg) c.3743T>G (p.Met1248Arg) c.3593T>G (p.Met1198Arg) | |
| 5 | g.128335556A>G | CA360758115 | FBN2 | n.530T>C n.611T>C c.3746T>C (p.Met1249Thr) c.296T>C (p.Met99Thr) c.3647T>C (p.Met1216Thr) c.3743T>C (p.Met1248Thr) c.3593T>C (p.Met1198Thr) | |
| 5 | g.128335556A>T | CA360758116 | FBN2 | n.530T>A n.611T>A c.3746T>A (p.Met1249Lys) c.296T>A (p.Met99Lys) c.3647T>A (p.Met1216Lys) c.3743T>A (p.Met1248Lys) c.3593T>A (p.Met1198Lys) | dbSNP gnomAD v2 |
| 5 | g.128335557T>A | CA360758117 | FBN2 | n.529A>T n.610A>T c.3745A>T (p.Met1249Leu) c.295A>T (p.Met99Leu) c.3646A>T (p.Met1216Leu) c.3742A>T (p.Met1248Leu) c.3592A>T (p.Met1198Leu) | |
| 5 | g.128335557T>C | CA360758118 | FBN2 | n.529A>G n.610A>G c.3745A>G (p.Met1249Val) c.295A>G (p.Met99Val) c.3646A>G (p.Met1216Val) c.3742A>G (p.Met1248Val) c.3592A>G (p.Met1198Val) | gnomAD v4 |
| 5 | g.128335557T>G | CA360758119 | FBN2 | n.529A>C n.610A>C c.3745A>C (p.Met1249Leu) c.295A>C (p.Met99Leu) c.3646A>C (p.Met1216Leu) c.3742A>C (p.Met1248Leu) c.3592A>C (p.Met1198Leu) | |
| 5 | g.128335558T>A | CA446310176 | FBN2 | n.528A>T n.609A>T c.3744A>T (p.Ile1248=) c.294A>T (p.Ile98=) c.3645A>T (p.Ile1215=) c.3741A>T (p.Ile1247=) c.3591A>T (p.Ile1197=) | |
| 5 | g.128335558T>C | CA360758120 | FBN2 | n.528A>G n.609A>G c.3744A>G (p.Ile1248Met) c.294A>G (p.Ile98Met) c.3645A>G (p.Ile1215Met) c.3741A>G (p.Ile1247Met) c.3591A>G (p.Ile1197Met) | |
| 5 | g.128335558T>G | CA446310177 | FBN2 | n.528A>C n.609A>C c.3744A>C (p.Ile1248=) c.294A>C (p.Ile98=) c.3645A>C (p.Ile1215=) c.3741A>C (p.Ile1247=) c.3591A>C (p.Ile1197=) | |
| 5 | g.128335559A>C | CA360758123 | FBN2 | n.527T>G n.608T>G c.3743T>G (p.Ile1248Arg) c.293T>G (p.Ile98Arg) c.3644T>G (p.Ile1215Arg) c.3740T>G (p.Ile1247Arg) c.3590T>G (p.Ile1197Arg) | |
| 5 | g.128335559A>G | CA360758122 | FBN2 | n.527T>C n.608T>C c.3743T>C (p.Ile1248Thr) c.293T>C (p.Ile98Thr) c.3644T>C (p.Ile1215Thr) c.3740T>C (p.Ile1247Thr) c.3590T>C (p.Ile1197Thr) | |
| 5 | g.128335559A>T | CA360758121 | FBN2 | n.527T>A n.608T>A c.3743T>A (p.Ile1248Lys) c.293T>A (p.Ile98Lys) c.3644T>A (p.Ile1215Lys) c.3740T>A (p.Ile1247Lys) c.3590T>A (p.Ile1197Lys) | |
| 5 | g.128335560T>A | CA360758124 | FBN2 | n.526A>T n.607A>T c.3742A>T (p.Ile1248Leu) c.292A>T (p.Ile98Leu) c.3643A>T (p.Ile1215Leu) c.3739A>T (p.Ile1247Leu) c.3589A>T (p.Ile1197Leu) | |
| 5 | g.128335560T>C | CA3395144 | FBN2 | n.526A>G n.607A>G c.3742A>G (p.Ile1248Val) c.292A>G (p.Ile98Val) c.3643A>G (p.Ile1215Val) c.3739A>G (p.Ile1247Val) c.3589A>G (p.Ile1197Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335560T>G | CA360758125 | FBN2 | n.526A>C n.607A>C c.3742A>C (p.Ile1248Leu) c.292A>C (p.Ile98Leu) c.3643A>C (p.Ile1215Leu) c.3739A>C (p.Ile1247Leu) c.3589A>C (p.Ile1197Leu) | |
| 5 | g.128335560T= | CA1581269633 | FBN2 | n.526A= n.607A= c.3742A= (p.Ile1248=) c.292A= (p.Ile98=) c.3643A= (p.Ile1215=) c.3739A= (p.Ile1247=) c.3589A= (p.Ile1197=) | |
| 5 | g.128335561C>A | CA360758126 | FBN2 | n.525G>T n.606G>T c.3741G>T (p.Met1247Ile) c.291G>T (p.Met97Ile) c.3642G>T (p.Met1214Ile) c.3738G>T (p.Met1246Ile) c.3588G>T (p.Met1196Ile) | |
| 5 | g.128335561C>G | CA360758127 | FBN2 | n.525G>C n.606G>C c.3741G>C (p.Met1247Ile) c.291G>C (p.Met97Ile) c.3642G>C (p.Met1214Ile) c.3738G>C (p.Met1246Ile) c.3588G>C (p.Met1196Ile) | |
| 5 | g.128335561C>T | CA360758128 | FBN2 | n.525G>A n.606G>A c.3741G>A (p.Met1247Ile) c.291G>A (p.Met97Ile) c.3642G>A (p.Met1214Ile) c.3738G>A (p.Met1246Ile) c.3588G>A (p.Met1196Ile) | |
| 5 | g.128335562A= | CA1581269634 | FBN2 | n.524T= n.605T= c.3740T= (p.Met1247=) c.290T= (p.Met97=) c.3641T= (p.Met1214=) c.3737T= (p.Met1246=) c.3587T= (p.Met1196=) | |
| 5 | g.128335562A>C | CA360758129 | FBN2 | n.524T>G n.605T>G c.3740T>G (p.Met1247Arg) c.290T>G (p.Met97Arg) c.3641T>G (p.Met1214Arg) c.3737T>G (p.Met1246Arg) c.3587T>G (p.Met1196Arg) | |
| 5 | g.128335562A>G | CA174027 | FBN2 | n.524T>C n.605T>C c.3740T>C (p.Met1247Thr) c.290T>C (p.Met97Thr) c.3641T>C (p.Met1214Thr) c.3737T>C (p.Met1246Thr) c.3587T>C (p.Met1196Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335562A>T | CA360758130 | FBN2 | n.524T>A n.605T>A c.3740T>A (p.Met1247Lys) c.290T>A (p.Met97Lys) c.3641T>A (p.Met1214Lys) c.3737T>A (p.Met1246Lys) c.3587T>A (p.Met1196Lys) | |
| 5 | g.128335563T>A | CA360758131 | FBN2 | n.523A>T n.604A>T c.3739A>T (p.Met1247Leu) c.289A>T (p.Met97Leu) c.3640A>T (p.Met1214Leu) c.3736A>T (p.Met1246Leu) c.3586A>T (p.Met1196Leu) | |
| 5 | g.128335563T>C | CA360758132 | FBN2 | n.523A>G n.604A>G c.3739A>G (p.Met1247Val) c.289A>G (p.Met97Val) c.3640A>G (p.Met1214Val) c.3736A>G (p.Met1246Val) c.3586A>G (p.Met1196Val) | dbSNP |
| 5 | g.128335563T>G | CA360758133 | FBN2 | n.523A>C n.604A>C c.3739A>C (p.Met1247Leu) c.289A>C (p.Met97Leu) c.3640A>C (p.Met1214Leu) c.3736A>C (p.Met1246Leu) c.3586A>C (p.Met1196Leu) | |
| 5 | g.128335563T= | CA1581269635 | FBN2 | n.523A= n.604A= c.3739A= (p.Met1247=) c.289A= (p.Met97=) c.3640A= (p.Met1214=) c.3736A= (p.Met1246=) c.3586A= (p.Met1196=) | |
| 5 | g.128335564A>C | CA360758134 | FBN2 | n.522T>G n.603T>G c.3738T>G (p.Cys1246Trp) c.288T>G (p.Cys96Trp) c.3639T>G (p.Cys1213Trp) c.3735T>G (p.Cys1245Trp) c.3585T>G (p.Cys1195Trp) | |
| 5 | g.128335564A>G | CA446310178 | FBN2 | n.522T>C n.603T>C c.3738T>C (p.Cys1246=) c.288T>C (p.Cys96=) c.3639T>C (p.Cys1213=) c.3735T>C (p.Cys1245=) c.3585T>C (p.Cys1195=) | gnomAD v4 |
| 5 | g.128335564A>T | CA360758135 | FBN2 | n.522T>A n.603T>A c.3738T>A (p.Cys1246Ter) c.288T>A (p.Cys96Ter) c.3639T>A (p.Cys1213Ter) c.3735T>A (p.Cys1245Ter) c.3585T>A (p.Cys1195Ter) | |
| 5 | g.128335565C>A | CA360758136 | FBN2 | n.521G>T n.602G>T c.3737G>T (p.Cys1246Phe) c.287G>T (p.Cys96Phe) c.3638G>T (p.Cys1213Phe) c.3734G>T (p.Cys1245Phe) c.3584G>T (p.Cys1195Phe) | |
| 5 | g.128335565C>G | CA360758137 | FBN2 | n.521G>C n.602G>C c.3737G>C (p.Cys1246Ser) c.287G>C (p.Cys96Ser) c.3638G>C (p.Cys1213Ser) c.3734G>C (p.Cys1245Ser) c.3584G>C (p.Cys1195Ser) | |
| 5 | g.128335565C>T | CA360758138 | FBN2 | n.521G>A n.602G>A c.3737G>A (p.Cys1246Tyr) c.287G>A (p.Cys96Tyr) c.3638G>A (p.Cys1213Tyr) c.3734G>A (p.Cys1245Tyr) c.3584G>A (p.Cys1195Tyr) | ClinVar |
| 5 | g.128335566A= | CA1581269636 | FBN2 | n.520T= n.601T= c.3736T= (p.Cys1246=) c.286T= (p.Cys96=) c.3637T= (p.Cys1213=) c.3733T= (p.Cys1245=) c.3583T= (p.Cys1195=) | |
| 5 | g.128335566A>C | CA360758139 | FBN2 | n.520T>G n.601T>G c.3736T>G (p.Cys1246Gly) c.286T>G (p.Cys96Gly) c.3637T>G (p.Cys1213Gly) c.3733T>G (p.Cys1245Gly) c.3583T>G (p.Cys1195Gly) | ClinVar dbSNP |
| 5 | g.128335566A>G | CA360758140 | FBN2 | n.520T>C n.601T>C c.3736T>C (p.Cys1246Arg) c.286T>C (p.Cys96Arg) c.3637T>C (p.Cys1213Arg) c.3733T>C (p.Cys1245Arg) c.3583T>C (p.Cys1195Arg) | ClinVar dbSNP |
| 5 | g.128335566A>T | CA360758141 | FBN2 | n.520T>A n.601T>A c.3736T>A (p.Cys1246Ser) c.286T>A (p.Cys96Ser) c.3637T>A (p.Cys1213Ser) c.3733T>A (p.Cys1245Ser) c.3583T>A (p.Cys1195Ser) | |
| 5 | g.128335567T>A | CA360758142 | FBN2 | n.519A>T n.600A>T c.3735A>T (p.Glu1245Asp) c.285A>T (p.Glu95Asp) c.3636A>T (p.Glu1212Asp) c.3732A>T (p.Glu1244Asp) c.3582A>T (p.Glu1194Asp) | |
| 5 | g.128335567T>C | CA446310179 | FBN2 | n.519A>G n.600A>G c.3735A>G (p.Glu1245=) c.285A>G (p.Glu95=) c.3636A>G (p.Glu1212=) c.3732A>G (p.Glu1244=) c.3582A>G (p.Glu1194=) | |
| 5 | g.128335567T>G | CA360758143 | FBN2 | n.519A>C n.600A>C c.3735A>C (p.Glu1245Asp) c.285A>C (p.Glu95Asp) c.3636A>C (p.Glu1212Asp) c.3732A>C (p.Glu1244Asp) c.3582A>C (p.Glu1194Asp) | |
| 5 | g.128335568T>A | CA360758144 | FBN2 | n.518A>T n.599A>T c.3734A>T (p.Glu1245Val) c.284A>T (p.Glu95Val) c.3635A>T (p.Glu1212Val) c.3731A>T (p.Glu1244Val) c.3581A>T (p.Glu1194Val) | |
| 5 | g.128335568T>C | CA360758145 | FBN2 | n.518A>G n.599A>G c.3734A>G (p.Glu1245Gly) c.284A>G (p.Glu95Gly) c.3635A>G (p.Glu1212Gly) c.3731A>G (p.Glu1244Gly) c.3581A>G (p.Glu1194Gly) | |
| 5 | g.128335568T>G | CA360758146 | FBN2 | n.518A>C n.599A>C c.3734A>C (p.Glu1245Ala) c.284A>C (p.Glu95Ala) c.3635A>C (p.Glu1212Ala) c.3731A>C (p.Glu1244Ala) c.3581A>C (p.Glu1194Ala) | |
| 5 | g.128335569C>A | CA360758149 | FBN2 | n.517G>T n.598G>T c.3733G>T (p.Glu1245Ter) c.283G>T (p.Glu95Ter) c.3634G>T (p.Glu1212Ter) c.3730G>T (p.Glu1244Ter) c.3580G>T (p.Glu1194Ter) | |
| 5 | g.128335569C>G | CA360758148 | FBN2 | n.517G>C n.598G>C c.3733G>C (p.Glu1245Gln) c.283G>C (p.Glu95Gln) c.3634G>C (p.Glu1212Gln) c.3730G>C (p.Glu1244Gln) c.3580G>C (p.Glu1194Gln) | |
| 5 | g.128335569C>T | CA360758147 | FBN2 | n.517G>A n.598G>A c.3733G>A (p.Glu1245Lys) c.283G>A (p.Glu95Lys) c.3634G>A (p.Glu1212Lys) c.3730G>A (p.Glu1244Lys) c.3580G>A (p.Glu1194Lys) |