| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128335437_128335443del | CA2675117124 | FBN2 | n.631+13_631+19del n.712+13_712+19del c.3847+13_3847+19del (n.3847+13_3847+19del) c.397+13_397+19del (n.397+13_397+19del) c.3748+13_3748+19del (n.3748+13_3748+19del) c.3844+13_3844+19del (n.3844+13_3844+19del) c.3694+13_3694+19del (n.3694+13_3694+19del) | gnomAD v4 |
| 5 | g.128335444C>A | CA562715420 | FBN2 | n.631+11G>T n.712+11G>T c.3847+11G>T (n.3847+11G>T) c.397+11G>T (n.397+11G>T) c.3748+11G>T (n.3748+11G>T) c.3844+11G>T (n.3844+11G>T) c.3694+11G>T (n.3694+11G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335444C= | CA1581269590 | FBN2 | n.631+11G= n.712+11G= c.3847+11G= (n.3847+11G=) c.397+11G= (n.397+11G=) c.3748+11G= (n.3748+11G=) c.3844+11G= (n.3844+11G=) c.3694+11G= (n.3694+11G=) | |
| 5 | g.128335449C= | CA1581269591 | FBN2 | n.631+6G= n.712+6G= c.3847+6G= (n.3847+6G=) c.397+6G= (n.397+6G=) c.3748+6G= (n.3748+6G=) c.3844+6G= (n.3844+6G=) c.3694+6G= (n.3694+6G=) | |
| 5 | g.128335449C>T | CA1581269592 | FBN2 | n.631+6G>A n.712+6G>A c.3847+6G>A (n.3847+6G>A) c.397+6G>A (n.397+6G>A) c.3748+6G>A (n.3748+6G>A) c.3844+6G>A (n.3844+6G>A) c.3694+6G>A (n.3694+6G>A) | dbSNP |
| 5 | g.128335450T>C | CA562715421 | FBN2 | n.631+5A>G n.712+5A>G c.3847+5A>G (n.3847+5A>G) c.397+5A>G (n.397+5A>G) c.3748+5A>G (n.3748+5A>G) c.3844+5A>G (n.3844+5A>G) c.3694+5A>G (n.3694+5A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128335450T= | CA1581269593 | FBN2 | n.631+5A= n.712+5A= c.3847+5A= (n.3847+5A=) c.397+5A= (n.397+5A=) c.3748+5A= (n.3748+5A=) c.3844+5A= (n.3844+5A=) c.3694+5A= (n.3694+5A=) | |
| 5 | g.128335451A>G | CA2675117127 | FBN2 | n.631+4T>C n.712+4T>C c.3847+4T>C (n.3847+4T>C) c.397+4T>C (n.397+4T>C) c.3748+4T>C (n.3748+4T>C) c.3844+4T>C (n.3844+4T>C) c.3694+4T>C (n.3694+4T>C) | gnomAD v4 |
| 5 | g.128335452T>C | CA2675117128 | FBN2 | n.631+3A>G n.712+3A>G c.3847+3A>G (n.3847+3A>G) c.397+3A>G (n.397+3A>G) c.3748+3A>G (n.3748+3A>G) c.3844+3A>G (n.3844+3A>G) c.3694+3A>G (n.3694+3A>G) | gnomAD v4 |
| 5 | g.128335453A>C | CA360757886 | FBN2 | n.631+2T>G n.712+2T>G c.3847+2T>G (n.3847+2T>G) c.397+2T>G (n.397+2T>G) c.3748+2T>G (n.3748+2T>G) c.3844+2T>G (n.3844+2T>G) c.3694+2T>G (n.3694+2T>G) | |
| 5 | g.128335453A>G | CA360757887 | FBN2 | n.631+2T>C n.712+2T>C c.3847+2T>C (n.3847+2T>C) c.397+2T>C (n.397+2T>C) c.3748+2T>C (n.3748+2T>C) c.3844+2T>C (n.3844+2T>C) c.3694+2T>C (n.3694+2T>C) | |
| 5 | g.128335453A>T | CA360757888 | FBN2 | n.631+2T>A n.712+2T>A c.3847+2T>A (n.3847+2T>A) c.397+2T>A (n.397+2T>A) c.3748+2T>A (n.3748+2T>A) c.3844+2T>A (n.3844+2T>A) c.3694+2T>A (n.3694+2T>A) | |
| 5 | g.128335454C>A | CA321134 | FBN2 | n.631+1G>T n.712+1G>T c.3847+1G>T (n.3847+1G>T) c.397+1G>T (n.397+1G>T) c.3748+1G>T (n.3748+1G>T) c.3844+1G>T (n.3844+1G>T) c.3694+1G>T (n.3694+1G>T) | ClinVar dbSNP |
| 5 | g.128335454C= | CA1581269594 | FBN2 | n.631+1G= n.712+1G= c.3847+1G= (n.3847+1G=) c.397+1G= (n.397+1G=) c.3748+1G= (n.3748+1G=) c.3844+1G= (n.3844+1G=) c.3694+1G= (n.3694+1G=) | |
| 5 | g.128335454C>G | CA360757889 | FBN2 | n.631+1G>C n.712+1G>C c.3847+1G>C (n.3847+1G>C) c.397+1G>C (n.397+1G>C) c.3748+1G>C (n.3748+1G>C) c.3844+1G>C (n.3844+1G>C) c.3694+1G>C (n.3694+1G>C) | |
| 5 | g.128335454C>T | CA360757890 | FBN2 | n.631+1G>A n.712+1G>A c.3847+1G>A (n.3847+1G>A) c.397+1G>A (n.397+1G>A) c.3748+1G>A (n.3748+1G>A) c.3844+1G>A (n.3844+1G>A) c.3694+1G>A (n.3694+1G>A) | gnomAD v4 |
| 5 | g.128335455C>A | CA360757891 | FBN2 | n.631G>T n.712G>T c.3847G>T (p.Asp1283Tyr) c.397G>T (p.Asp133Tyr) c.3748G>T (p.Asp1250Tyr) c.3844G>T (p.Asp1282Tyr) c.3694G>T (p.Asp1232Tyr) | |
| 5 | g.128335455C>G | CA360757893 | FBN2 | n.631G>C n.712G>C c.3847G>C (p.Asp1283His) c.397G>C (p.Asp133His) c.3748G>C (p.Asp1250His) c.3844G>C (p.Asp1282His) c.3694G>C (p.Asp1232His) | |
| 5 | g.128335455C>T | CA360757892 | FBN2 | n.631G>A n.712G>A c.3847G>A (p.Asp1283Asn) c.397G>A (p.Asp133Asn) c.3748G>A (p.Asp1250Asn) c.3844G>A (p.Asp1282Asn) c.3694G>A (p.Asp1232Asn) | |
| 5 | g.128335456T>A | CA446310113 | FBN2 | n.630A>T n.711A>T c.3846A>T (p.Ala1282=) c.396A>T (p.Ala132=) c.3747A>T (p.Ala1249=) c.3843A>T (p.Ala1281=) c.3693A>T (p.Ala1231=) | |
| 5 | g.128335456T>C | CA446310114 | FBN2 | n.630A>G n.711A>G c.3846A>G (p.Ala1282=) c.396A>G (p.Ala132=) c.3747A>G (p.Ala1249=) c.3843A>G (p.Ala1281=) c.3693A>G (p.Ala1231=) | |
| 5 | g.128335456T>G | CA446310115 | FBN2 | n.630A>C n.711A>C c.3846A>C (p.Ala1282=) c.396A>C (p.Ala132=) c.3747A>C (p.Ala1249=) c.3843A>C (p.Ala1281=) c.3693A>C (p.Ala1231=) | |
| 5 | g.128335457G>A | CA360757894 | FBN2 | n.629C>T n.710C>T c.3845C>T (p.Ala1282Val) c.395C>T (p.Ala132Val) c.3746C>T (p.Ala1249Val) c.3842C>T (p.Ala1281Val) c.3692C>T (p.Ala1231Val) | |
| 5 | g.128335457G>C | CA360757895 | FBN2 | n.629C>G n.710C>G c.3845C>G (p.Ala1282Gly) c.395C>G (p.Ala132Gly) c.3746C>G (p.Ala1249Gly) c.3842C>G (p.Ala1281Gly) c.3692C>G (p.Ala1231Gly) | |
| 5 | g.128335457G>T | CA360757896 | FBN2 | n.629C>A n.710C>A c.3845C>A (p.Ala1282Glu) c.395C>A (p.Ala132Glu) c.3746C>A (p.Ala1249Glu) c.3842C>A (p.Ala1281Glu) c.3692C>A (p.Ala1231Glu) | |
| 5 | g.128335458C>A | CA360757897 | FBN2 | n.628G>T n.709G>T c.3844G>T (p.Ala1282Ser) c.394G>T (p.Ala132Ser) c.3745G>T (p.Ala1249Ser) c.3841G>T (p.Ala1281Ser) c.3691G>T (p.Ala1231Ser) | |
| 5 | g.128335458C>G | CA360757898 | FBN2 | n.628G>C n.709G>C c.3844G>C (p.Ala1282Pro) c.394G>C (p.Ala132Pro) c.3745G>C (p.Ala1249Pro) c.3841G>C (p.Ala1281Pro) c.3691G>C (p.Ala1231Pro) | |
| 5 | g.128335458C>T | CA360757899 | FBN2 | n.628G>A n.709G>A c.3844G>A (p.Ala1282Thr) c.394G>A (p.Ala132Thr) c.3745G>A (p.Ala1249Thr) c.3841G>A (p.Ala1281Thr) c.3691G>A (p.Ala1231Thr) | |
| 5 | g.128335459A>C | CA360757900 | FBN2 | n.627T>G n.708T>G c.3843T>G (p.Cys1281Trp) c.393T>G (p.Cys131Trp) c.3744T>G (p.Cys1248Trp) c.3840T>G (p.Cys1280Trp) c.3690T>G (p.Cys1230Trp) | |
| 5 | g.128335459A>G | CA446310117 | FBN2 | n.627T>C n.708T>C c.3843T>C (p.Cys1281=) c.393T>C (p.Cys131=) c.3744T>C (p.Cys1248=) c.3840T>C (p.Cys1280=) c.3690T>C (p.Cys1230=) | |
| 5 | g.128335459A>T | CA360757901 | FBN2 | n.627T>A n.708T>A c.3843T>A (p.Cys1281Ter) c.393T>A (p.Cys131Ter) c.3744T>A (p.Cys1248Ter) c.3840T>A (p.Cys1280Ter) c.3690T>A (p.Cys1230Ter) | |
| 5 | g.128335460C>A | CA360757902 | FBN2 | n.626G>T n.707G>T c.3842G>T (p.Cys1281Phe) c.392G>T (p.Cys131Phe) c.3743G>T (p.Cys1248Phe) c.3839G>T (p.Cys1280Phe) c.3689G>T (p.Cys1230Phe) | |
| 5 | g.128335460C>G | CA360757903 | FBN2 | n.626G>C n.707G>C c.3842G>C (p.Cys1281Ser) c.392G>C (p.Cys131Ser) c.3743G>C (p.Cys1248Ser) c.3839G>C (p.Cys1280Ser) c.3689G>C (p.Cys1230Ser) | |
| 5 | g.128335460C>T | CA360757904 | FBN2 | n.626G>A n.707G>A c.3842G>A (p.Cys1281Tyr) c.392G>A (p.Cys131Tyr) c.3743G>A (p.Cys1248Tyr) c.3839G>A (p.Cys1280Tyr) c.3689G>A (p.Cys1230Tyr) | |
| 5 | g.128335461A>C | CA360757905 | FBN2 | n.625T>G n.706T>G c.3841T>G (p.Cys1281Gly) c.391T>G (p.Cys131Gly) c.3742T>G (p.Cys1248Gly) c.3838T>G (p.Cys1280Gly) c.3688T>G (p.Cys1230Gly) | |
| 5 | g.128335461A>G | CA360757907 | FBN2 | n.625T>C n.706T>C c.3841T>C (p.Cys1281Arg) c.391T>C (p.Cys131Arg) c.3742T>C (p.Cys1248Arg) c.3838T>C (p.Cys1280Arg) c.3688T>C (p.Cys1230Arg) | |
| 5 | g.128335461A>T | CA360757906 | FBN2 | n.625T>A n.706T>A c.3841T>A (p.Cys1281Ser) c.391T>A (p.Cys131Ser) c.3742T>A (p.Cys1248Ser) c.3838T>A (p.Cys1280Ser) c.3688T>A (p.Cys1230Ser) | |
| 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=) |