| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128335550C>A | CA360758100 | FBN2 | n.536G>T n.617G>T c.3752G>T (p.Gly1251Val) c.302G>T (p.Gly101Val) c.3653G>T (p.Gly1218Val) c.3749G>T (p.Gly1250Val) c.3599G>T (p.Gly1200Val) | |
| 5 | g.128335550C= | CA1581269628 | FBN2 | n.536G= n.617G= c.3752G= (p.Gly1251=) c.302G= (p.Gly101=) c.3653G= (p.Gly1218=) c.3749G= (p.Gly1250=) c.3599G= (p.Gly1200=) | |
| 5 | g.128335550C>G | CA360758101 | FBN2 | n.536G>C n.617G>C c.3752G>C (p.Gly1251Ala) c.302G>C (p.Gly101Ala) c.3653G>C (p.Gly1218Ala) c.3749G>C (p.Gly1250Ala) c.3599G>C (p.Gly1200Ala) | |
| 5 | g.128335550C>T | CA3395141 | FBN2 | n.536G>A n.617G>A c.3752G>A (p.Gly1251Glu) c.302G>A (p.Gly101Glu) c.3653G>A (p.Gly1218Glu) c.3749G>A (p.Gly1250Glu) c.3599G>A (p.Gly1200Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128335551C>A | CA360758103 | FBN2 | n.535G>T n.616G>T c.3751G>T (p.Gly1251Ter) c.301G>T (p.Gly101Ter) c.3652G>T (p.Gly1218Ter) c.3748G>T (p.Gly1250Ter) c.3598G>T (p.Gly1200Ter) | |
| 5 | g.128335551C= | CA1581269629 | FBN2 | n.535G= n.616G= c.3751G= (p.Gly1251=) c.301G= (p.Gly101=) c.3652G= (p.Gly1218=) c.3748G= (p.Gly1250=) c.3598G= (p.Gly1200=) | |
| 5 | g.128335551C>G | CA360758102 | FBN2 | n.535G>C n.616G>C c.3751G>C (p.Gly1251Arg) c.301G>C (p.Gly101Arg) c.3652G>C (p.Gly1218Arg) c.3748G>C (p.Gly1250Arg) c.3598G>C (p.Gly1200Arg) | |
| 5 | g.128335551C>T | CA127013871 | FBN2 | n.535G>A n.616G>A c.3751G>A (p.Gly1251Arg) c.301G>A (p.Gly101Arg) c.3652G>A (p.Gly1218Arg) c.3748G>A (p.Gly1250Arg) c.3598G>A (p.Gly1200Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335552G>A | CA3395142 | FBN2 | n.534C>T n.615C>T c.3750C>T (p.Asn1250=) c.300C>T (p.Asn100=) c.3651C>T (p.Asn1217=) c.3747C>T (p.Asn1249=) c.3597C>T (p.Asn1199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128335552G>C | CA360758104 | FBN2 | n.534C>G n.615C>G c.3750C>G (p.Asn1250Lys) c.300C>G (p.Asn100Lys) c.3651C>G (p.Asn1217Lys) c.3747C>G (p.Asn1249Lys) c.3597C>G (p.Asn1199Lys) | |
| 5 | g.128335552G= | CA1581269630 | FBN2 | n.534C= n.615C= c.3750C= (p.Asn1250=) c.300C= (p.Asn100=) c.3651C= (p.Asn1217=) c.3747C= (p.Asn1249=) c.3597C= (p.Asn1199=) | |
| 5 | g.128335552G>T | CA360758105 | FBN2 | n.534C>A n.615C>A c.3750C>A (p.Asn1250Lys) c.300C>A (p.Asn100Lys) c.3651C>A (p.Asn1217Lys) c.3747C>A (p.Asn1249Lys) c.3597C>A (p.Asn1199Lys) | |
| 5 | g.128335553T>A | CA360758106 | FBN2 | n.533A>T n.614A>T c.3749A>T (p.Asn1250Ile) c.299A>T (p.Asn100Ile) c.3650A>T (p.Asn1217Ile) c.3746A>T (p.Asn1249Ile) c.3596A>T (p.Asn1199Ile) | |
| 5 | g.128335553T>C | CA360758108 | FBN2 | n.533A>G n.614A>G c.3749A>G (p.Asn1250Ser) c.299A>G (p.Asn100Ser) c.3650A>G (p.Asn1217Ser) c.3746A>G (p.Asn1249Ser) c.3596A>G (p.Asn1199Ser) | COSMIC COSMIC |
| 5 | g.128335553T>G | CA360758107 | FBN2 | n.533A>C n.614A>C c.3749A>C (p.Asn1250Thr) c.299A>C (p.Asn100Thr) c.3650A>C (p.Asn1217Thr) c.3746A>C (p.Asn1249Thr) c.3596A>C (p.Asn1199Thr) | |
| 5 | g.128335554T>A | CA360758109 | FBN2 | n.532A>T n.613A>T c.3748A>T (p.Asn1250Tyr) c.298A>T (p.Asn100Tyr) c.3649A>T (p.Asn1217Tyr) c.3745A>T (p.Asn1249Tyr) c.3595A>T (p.Asn1199Tyr) | |
| 5 | g.128335554T>C | CA3395143 | FBN2 | n.532A>G n.613A>G c.3748A>G (p.Asn1250Asp) c.298A>G (p.Asn100Asp) c.3649A>G (p.Asn1217Asp) c.3745A>G (p.Asn1249Asp) c.3595A>G (p.Asn1199Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128335554T>G | CA360758110 | FBN2 | n.532A>C n.613A>C c.3748A>C (p.Asn1250His) c.298A>C (p.Asn100His) c.3649A>C (p.Asn1217His) c.3745A>C (p.Asn1249His) c.3595A>C (p.Asn1199His) | |
| 5 | g.128335554T= | CA1581269631 | FBN2 | n.532A= n.613A= c.3748A= (p.Asn1250=) c.298A= (p.Asn100=) c.3649A= (p.Asn1217=) c.3745A= (p.Asn1249=) c.3595A= (p.Asn1199=) | |
| 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=) |