| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128335462C>A | CA446310118 | FBN2 | n.624G>T n.705G>T c.3840G>T (p.Ser1280=) c.390G>T (p.Ser130=) c.3741G>T (p.Ser1247=) c.3837G>T (p.Ser1279=) c.3687G>T (p.Ser1229=) | |
| 5 | g.128335462C= | CA1581269595 | FBN2 | n.624G= n.705G= c.3840G= (p.Ser1280=) c.390G= (p.Ser130=) c.3741G= (p.Ser1247=) c.3837G= (p.Ser1279=) c.3687G= (p.Ser1229=) | |
| 5 | g.128335462C>G | CA446310119 | FBN2 | n.624G>C n.705G>C c.3840G>C (p.Ser1280=) c.390G>C (p.Ser130=) c.3741G>C (p.Ser1247=) c.3837G>C (p.Ser1279=) c.3687G>C (p.Ser1229=) | |
| 5 | g.128335462C>T | CA3395131 | FBN2 | n.624G>A n.705G>A c.3840G>A (p.Ser1280=) c.390G>A (p.Ser130=) c.3741G>A (p.Ser1247=) c.3837G>A (p.Ser1279=) c.3687G>A (p.Ser1229=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335463G>A | CA324510 | FBN2 | n.623C>T n.704C>T c.3839C>T (p.Ser1280Leu) c.389C>T (p.Ser130Leu) c.3740C>T (p.Ser1247Leu) c.3836C>T (p.Ser1279Leu) c.3686C>T (p.Ser1229Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128335463G>C | CA360757908 | FBN2 | n.623C>G n.704C>G c.3839C>G (p.Ser1280Trp) c.389C>G (p.Ser130Trp) c.3740C>G (p.Ser1247Trp) c.3836C>G (p.Ser1279Trp) c.3686C>G (p.Ser1229Trp) | |
| 5 | g.128335463G= | CA1581269596 | FBN2 | n.623C= n.704C= c.3839C= (p.Ser1280=) c.389C= (p.Ser130=) c.3740C= (p.Ser1247=) c.3836C= (p.Ser1279=) c.3686C= (p.Ser1229=) | |
| 5 | g.128335463G>T | CA360757909 | FBN2 | n.623C>A n.704C>A c.3839C>A (p.Ser1280Ter) c.389C>A (p.Ser130Ter) c.3740C>A (p.Ser1247Ter) c.3836C>A (p.Ser1279Ter) c.3686C>A (p.Ser1229Ter) | |
| 5 | g.128335464A>C | CA360757910 | FBN2 | n.622T>G n.703T>G c.3838T>G (p.Ser1280Ala) c.388T>G (p.Ser130Ala) c.3739T>G (p.Ser1247Ala) c.3835T>G (p.Ser1279Ala) c.3685T>G (p.Ser1229Ala) | |
| 5 | g.128335464A>G | CA360757911 | FBN2 | n.622T>C n.703T>C c.3838T>C (p.Ser1280Pro) c.388T>C (p.Ser130Pro) c.3739T>C (p.Ser1247Pro) c.3835T>C (p.Ser1279Pro) c.3685T>C (p.Ser1229Pro) | |
| 5 | g.128335464A>T | CA360757912 | FBN2 | n.622T>A n.703T>A c.3838T>A (p.Ser1280Thr) c.388T>A (p.Ser130Thr) c.3739T>A (p.Ser1247Thr) c.3835T>A (p.Ser1279Thr) c.3685T>A (p.Ser1229Thr) | |
| 5 | g.128335465T>A | CA360757913 | FBN2 | n.621A>T n.702A>T c.3837A>T (p.Arg1279Ser) c.387A>T (p.Arg129Ser) c.3738A>T (p.Arg1246Ser) c.3834A>T (p.Arg1278Ser) c.3684A>T (p.Arg1228Ser) | |
| 5 | g.128335465T>C | CA446310120 | FBN2 | n.621A>G n.702A>G c.3837A>G (p.Arg1279=) c.387A>G (p.Arg129=) c.3738A>G (p.Arg1246=) c.3834A>G (p.Arg1278=) c.3684A>G (p.Arg1228=) | |
| 5 | g.128335465T>G | CA360757914 | FBN2 | n.621A>C n.702A>C c.3837A>C (p.Arg1279Ser) c.387A>C (p.Arg129Ser) c.3738A>C (p.Arg1246Ser) c.3834A>C (p.Arg1278Ser) c.3684A>C (p.Arg1228Ser) | |
| 5 | g.128335466C>A | CA360757915 | FBN2 | n.620G>T n.701G>T c.3836G>T (p.Arg1279Ile) c.386G>T (p.Arg129Ile) c.3737G>T (p.Arg1246Ile) c.3833G>T (p.Arg1278Ile) c.3683G>T (p.Arg1228Ile) | |
| 5 | g.128335466C>G | CA360757916 | FBN2 | n.620G>C n.701G>C c.3836G>C (p.Arg1279Thr) c.386G>C (p.Arg129Thr) c.3737G>C (p.Arg1246Thr) c.3833G>C (p.Arg1278Thr) c.3683G>C (p.Arg1228Thr) | |
| 5 | g.128335466C>T | CA360757917 | FBN2 | n.620G>A n.701G>A c.3836G>A (p.Arg1279Lys) c.386G>A (p.Arg129Lys) c.3737G>A (p.Arg1246Lys) c.3833G>A (p.Arg1278Lys) c.3683G>A (p.Arg1228Lys) | |
| 5 | g.128335467T>A | CA360757918 | FBN2 | n.619A>T n.700A>T c.3835A>T (p.Arg1279Ter) c.385A>T (p.Arg129Ter) c.3736A>T (p.Arg1246Ter) c.3832A>T (p.Arg1278Ter) c.3682A>T (p.Arg1228Ter) | |
| 5 | g.128335467T>C | CA360757919 | FBN2 | n.619A>G n.700A>G c.3835A>G (p.Arg1279Gly) c.385A>G (p.Arg129Gly) c.3736A>G (p.Arg1246Gly) c.3832A>G (p.Arg1278Gly) c.3682A>G (p.Arg1228Gly) | ClinVar dbSNP |
| 5 | g.128335467T>G | CA446310121 | FBN2 | n.619A>C n.700A>C c.3835A>C (p.Arg1279=) c.385A>C (p.Arg129=) c.3736A>C (p.Arg1246=) c.3832A>C (p.Arg1278=) c.3682A>C (p.Arg1228=) | |
| 5 | g.128335467T= | CA1581269597 | FBN2 | n.619A= n.700A= c.3835A= (p.Arg1279=) c.385A= (p.Arg129=) c.3736A= (p.Arg1246=) c.3832A= (p.Arg1278=) c.3682A= (p.Arg1228=) | |
| 5 | g.128335468C>A | CA446310124 | FBN2 | n.618G>T n.699G>T c.3834G>T (p.Gly1278=) c.384G>T (p.Gly128=) c.3735G>T (p.Gly1245=) c.3831G>T (p.Gly1277=) c.3681G>T (p.Gly1227=) | |
| 5 | g.128335468C>G | CA446310122 | FBN2 | n.618G>C n.699G>C c.3834G>C (p.Gly1278=) c.384G>C (p.Gly128=) c.3735G>C (p.Gly1245=) c.3831G>C (p.Gly1277=) c.3681G>C (p.Gly1227=) | |
| 5 | g.128335468C>T | CA446310123 | FBN2 | n.618G>A n.699G>A c.3834G>A (p.Gly1278=) c.384G>A (p.Gly128=) c.3735G>A (p.Gly1245=) c.3831G>A (p.Gly1277=) c.3681G>A (p.Gly1227=) | gnomAD v4 COSMIC COSMIC |
| 5 | g.128335469C>A | CA360757920 | FBN2 | n.617G>T n.698G>T c.3833G>T (p.Gly1278Val) c.383G>T (p.Gly128Val) c.3734G>T (p.Gly1245Val) c.3830G>T (p.Gly1277Val) c.3680G>T (p.Gly1227Val) | |
| 5 | g.128335469C= | CA1581269598 | FBN2 | n.617G= n.698G= c.3833G= (p.Gly1278=) c.383G= (p.Gly128=) c.3734G= (p.Gly1245=) c.3830G= (p.Gly1277=) c.3680G= (p.Gly1227=) | |
| 5 | g.128335469C>G | CA360757921 | FBN2 | n.617G>C n.698G>C c.3833G>C (p.Gly1278Ala) c.383G>C (p.Gly128Ala) c.3734G>C (p.Gly1245Ala) c.3830G>C (p.Gly1277Ala) c.3680G>C (p.Gly1227Ala) | |
| 5 | g.128335469C>T | CA3395132 | FBN2 | n.617G>A n.698G>A c.3833G>A (p.Gly1278Glu) c.383G>A (p.Gly128Glu) c.3734G>A (p.Gly1245Glu) c.3830G>A (p.Gly1277Glu) c.3680G>A (p.Gly1227Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335470C>A | CA360757922 | FBN2 | n.616G>T n.697G>T c.3832G>T (p.Gly1278Trp) c.382G>T (p.Gly128Trp) c.3733G>T (p.Gly1245Trp) c.3829G>T (p.Gly1277Trp) c.3679G>T (p.Gly1227Trp) | gnomAD v4 |
| 5 | g.128335470C>G | CA360757923 | FBN2 | n.616G>C n.697G>C c.3832G>C (p.Gly1278Arg) c.382G>C (p.Gly128Arg) c.3733G>C (p.Gly1245Arg) c.3829G>C (p.Gly1277Arg) c.3679G>C (p.Gly1227Arg) | |
| 5 | g.128335470C>T | CA360757924 | FBN2 | n.616G>A n.697G>A c.3832G>A (p.Gly1278Arg) c.382G>A (p.Gly128Arg) c.3733G>A (p.Gly1245Arg) c.3829G>A (p.Gly1277Arg) c.3679G>A (p.Gly1227Arg) | gnomAD v4 |
| 5 | g.128335471A>C | CA360757925 | FBN2 | n.615T>G n.696T>G c.3831T>G (p.Asp1277Glu) c.381T>G (p.Asp127Glu) c.3732T>G (p.Asp1244Glu) c.3828T>G (p.Asp1276Glu) c.3678T>G (p.Asp1226Glu) | |
| 5 | g.128335471A>G | CA446310125 | FBN2 | n.615T>C n.696T>C c.3831T>C (p.Asp1277=) c.381T>C (p.Asp127=) c.3732T>C (p.Asp1244=) c.3828T>C (p.Asp1276=) c.3678T>C (p.Asp1226=) | |
| 5 | g.128335471A>T | CA360757926 | FBN2 | n.615T>A n.696T>A c.3831T>A (p.Asp1277Glu) c.381T>A (p.Asp127Glu) c.3732T>A (p.Asp1244Glu) c.3828T>A (p.Asp1276Glu) c.3678T>A (p.Asp1226Glu) | |
| 5 | g.128335472T>A | CA360757927 | FBN2 | n.614A>T n.695A>T c.3830A>T (p.Asp1277Val) c.380A>T (p.Asp127Val) c.3731A>T (p.Asp1244Val) c.3827A>T (p.Asp1276Val) c.3677A>T (p.Asp1226Val) | ClinVar |
| 5 | g.128335472T>C | CA360757928 | FBN2 | n.614A>G n.695A>G c.3830A>G (p.Asp1277Gly) c.380A>G (p.Asp127Gly) c.3731A>G (p.Asp1244Gly) c.3827A>G (p.Asp1276Gly) c.3677A>G (p.Asp1226Gly) | gnomAD v4 |
| 5 | g.128335472T>G | CA360757929 | FBN2 | n.614A>C n.695A>C c.3830A>C (p.Asp1277Ala) c.380A>C (p.Asp127Ala) c.3731A>C (p.Asp1244Ala) c.3827A>C (p.Asp1276Ala) c.3677A>C (p.Asp1226Ala) | |
| 5 | g.128335473C>A | CA360757931 | FBN2 | n.613G>T n.694G>T c.3829G>T (p.Asp1277Tyr) c.379G>T (p.Asp127Tyr) c.3730G>T (p.Asp1244Tyr) c.3826G>T (p.Asp1276Tyr) c.3676G>T (p.Asp1226Tyr) | |
| 5 | g.128335473C>G | CA360757932 | FBN2 | n.613G>C n.694G>C c.3829G>C (p.Asp1277His) c.379G>C (p.Asp127His) c.3730G>C (p.Asp1244His) c.3826G>C (p.Asp1276His) c.3676G>C (p.Asp1226His) | |
| 5 | g.128335473C>T | CA360757930 | FBN2 | n.613G>A n.694G>A c.3829G>A (p.Asp1277Asn) c.379G>A (p.Asp127Asn) c.3730G>A (p.Asp1244Asn) c.3826G>A (p.Asp1276Asn) c.3676G>A (p.Asp1226Asn) | |
| 5 | g.128335474T>A | CA446310127 | FBN2 | n.612A>T n.693A>T c.3828A>T (p.Pro1276=) c.378A>T (p.Pro126=) c.3729A>T (p.Pro1243=) c.3825A>T (p.Pro1275=) c.3675A>T (p.Pro1225=) | |
| 5 | g.128335474T>C | CA446310126 | FBN2 | n.612A>G n.693A>G c.3828A>G (p.Pro1276=) c.378A>G (p.Pro126=) c.3729A>G (p.Pro1243=) c.3825A>G (p.Pro1275=) c.3675A>G (p.Pro1225=) | |
| 5 | g.128335474T>G | CA446310128 | FBN2 | n.612A>C n.693A>C c.3828A>C (p.Pro1276=) c.378A>C (p.Pro126=) c.3729A>C (p.Pro1243=) c.3825A>C (p.Pro1275=) c.3675A>C (p.Pro1225=) | dbSNP |
| 5 | g.128335474T= | CA1581269599 | FBN2 | n.612A= n.693A= c.3828A= (p.Pro1276=) c.378A= (p.Pro126=) c.3729A= (p.Pro1243=) c.3825A= (p.Pro1275=) c.3675A= (p.Pro1225=) | |
| 5 | g.128335475G>A | CA360757935 | FBN2 | n.611C>T n.692C>T c.3827C>T (p.Pro1276Leu) c.377C>T (p.Pro126Leu) c.3728C>T (p.Pro1243Leu) c.3824C>T (p.Pro1275Leu) c.3674C>T (p.Pro1225Leu) | |
| 5 | g.128335475G>C | CA360757933 | FBN2 | n.611C>G n.692C>G c.3827C>G (p.Pro1276Arg) c.377C>G (p.Pro126Arg) c.3728C>G (p.Pro1243Arg) c.3824C>G (p.Pro1275Arg) c.3674C>G (p.Pro1225Arg) | |
| 5 | g.128335475G>T | CA360757934 | FBN2 | n.611C>A n.692C>A c.3827C>A (p.Pro1276Gln) c.377C>A (p.Pro126Gln) c.3728C>A (p.Pro1243Gln) c.3824C>A (p.Pro1275Gln) c.3674C>A (p.Pro1225Gln) | |
| 5 | g.128335476G>A | CA360757936 | FBN2 | n.610C>T n.691C>T c.3826C>T (p.Pro1276Ser) c.376C>T (p.Pro126Ser) c.3727C>T (p.Pro1243Ser) c.3823C>T (p.Pro1275Ser) c.3673C>T (p.Pro1225Ser) | |
| 5 | g.128335476G>C | CA360757937 | FBN2 | n.610C>G n.691C>G c.3826C>G (p.Pro1276Ala) c.376C>G (p.Pro126Ala) c.3727C>G (p.Pro1243Ala) c.3823C>G (p.Pro1275Ala) c.3673C>G (p.Pro1225Ala) | |
| 5 | g.128335476G>T | CA360757938 | FBN2 | n.610C>A n.691C>A c.3826C>A (p.Pro1276Thr) c.376C>A (p.Pro126Thr) c.3727C>A (p.Pro1243Thr) c.3823C>A (p.Pro1275Thr) c.3673C>A (p.Pro1225Thr) |