UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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) | |
| 5 | g.128335477C>A | CA360757939 | FBN2 | n.609G>T n.690G>T c.3825G>T (p.Met1275Ile) c.375G>T (p.Met125Ile) c.3726G>T (p.Met1242Ile) c.3822G>T (p.Met1274Ile) c.3672G>T (p.Met1224Ile) | gnomAD v4 |
| 5 | g.128335477C= | CA1581269600 | FBN2 | n.609G= n.690G= c.3825G= (p.Met1275=) c.375G= (p.Met125=) c.3726G= (p.Met1242=) c.3822G= (p.Met1274=) c.3672G= (p.Met1224=) | |
| 5 | g.128335477C>G | CA360757940 | FBN2 | n.609G>C n.690G>C c.3825G>C (p.Met1275Ile) c.375G>C (p.Met125Ile) c.3726G>C (p.Met1242Ile) c.3822G>C (p.Met1274Ile) c.3672G>C (p.Met1224Ile) | |
| 5 | g.128335477C>T | CA3395133 | FBN2 | n.609G>A n.690G>A c.3825G>A (p.Met1275Ile) c.375G>A (p.Met125Ile) c.3726G>A (p.Met1242Ile) c.3822G>A (p.Met1274Ile) c.3672G>A (p.Met1224Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335478A>C | CA360757941 | FBN2 | n.608T>G n.689T>G c.3824T>G (p.Met1275Arg) c.374T>G (p.Met125Arg) c.3725T>G (p.Met1242Arg) c.3821T>G (p.Met1274Arg) c.3671T>G (p.Met1224Arg) | |
| 5 | g.128335478A>G | CA360757942 | FBN2 | n.608T>C n.689T>C c.3824T>C (p.Met1275Thr) c.374T>C (p.Met125Thr) c.3725T>C (p.Met1242Thr) c.3821T>C (p.Met1274Thr) c.3671T>C (p.Met1224Thr) | |
| 5 | g.128335478A>T | CA360757943 | FBN2 | n.608T>A n.689T>A c.3824T>A (p.Met1275Lys) c.374T>A (p.Met125Lys) c.3725T>A (p.Met1242Lys) c.3821T>A (p.Met1274Lys) c.3671T>A (p.Met1224Lys) | |
| 5 | g.128335479T>A | CA360757946 | FBN2 | n.607A>T n.688A>T c.3823A>T (p.Met1275Leu) c.373A>T (p.Met125Leu) c.3724A>T (p.Met1242Leu) c.3820A>T (p.Met1274Leu) c.3670A>T (p.Met1224Leu) | |
| 5 | g.128335479T>C | CA360757945 | FBN2 | n.607A>G n.688A>G c.3823A>G (p.Met1275Val) c.373A>G (p.Met125Val) c.3724A>G (p.Met1242Val) c.3820A>G (p.Met1274Val) c.3670A>G (p.Met1224Val) | |
| 5 | g.128335479T>G | CA360757944 | FBN2 | n.607A>C n.688A>C c.3823A>C (p.Met1275Leu) c.373A>C (p.Met125Leu) c.3724A>C (p.Met1242Leu) c.3820A>C (p.Met1274Leu) c.3670A>C (p.Met1224Leu) | |
| 5 | g.128335480C>A | CA446310129 | FBN2 | n.606G>T n.687G>T c.3822G>T (p.Leu1274=) c.372G>T (p.Leu124=) c.3723G>T (p.Leu1241=) c.3819G>T (p.Leu1273=) c.3669G>T (p.Leu1223=) | |
| 5 | g.128335480C>G | CA446310130 | FBN2 | n.606G>C n.687G>C c.3822G>C (p.Leu1274=) c.372G>C (p.Leu124=) c.3723G>C (p.Leu1241=) c.3819G>C (p.Leu1273=) c.3669G>C (p.Leu1223=) | |
| 5 | g.128335480C>T | CA446310131 | FBN2 | n.606G>A n.687G>A c.3822G>A (p.Leu1274=) c.372G>A (p.Leu124=) c.3723G>A (p.Leu1241=) c.3819G>A (p.Leu1273=) c.3669G>A (p.Leu1223=) | |
| 5 | g.128335481A>C | CA360757947 | FBN2 | n.605T>G n.686T>G c.3821T>G (p.Leu1274Arg) c.371T>G (p.Leu124Arg) c.3722T>G (p.Leu1241Arg) c.3818T>G (p.Leu1273Arg) c.3668T>G (p.Leu1223Arg) | |
| 5 | g.128335481A>G | CA360757948 | FBN2 | n.605T>C n.686T>C c.3821T>C (p.Leu1274Pro) c.371T>C (p.Leu124Pro) c.3722T>C (p.Leu1241Pro) c.3818T>C (p.Leu1273Pro) c.3668T>C (p.Leu1223Pro) | gnomAD v4 |
| 5 | g.128335481A>T | CA360757949 | FBN2 | n.605T>A n.686T>A c.3821T>A (p.Leu1274Gln) c.371T>A (p.Leu124Gln) c.3722T>A (p.Leu1241Gln) c.3818T>A (p.Leu1273Gln) c.3668T>A (p.Leu1223Gln) | |
| 5 | g.128335482G>A | CA3395134 | FBN2 | n.604C>T n.685C>T c.3820C>T (p.Leu1274=) c.370C>T (p.Leu124=) c.3721C>T (p.Leu1241=) c.3817C>T (p.Leu1273=) c.3667C>T (p.Leu1223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335482G>C | CA360757950 | FBN2 | n.604C>G n.685C>G c.3820C>G (p.Leu1274Val) c.370C>G (p.Leu124Val) c.3721C>G (p.Leu1241Val) c.3817C>G (p.Leu1273Val) c.3667C>G (p.Leu1223Val) | |
| 5 | g.128335482G= | CA1581269601 | FBN2 | n.604C= n.685C= c.3820C= (p.Leu1274=) c.370C= (p.Leu124=) c.3721C= (p.Leu1241=) c.3817C= (p.Leu1273=) c.3667C= (p.Leu1223=) | |
| 5 | g.128335482G>T | CA360757951 | FBN2 | n.604C>A n.685C>A c.3820C>A (p.Leu1274Met) c.370C>A (p.Leu124Met) c.3721C>A (p.Leu1241Met) c.3817C>A (p.Leu1273Met) c.3667C>A (p.Leu1223Met) | |
| 5 | g.128335483G>A | CA446310132 | FBN2 | n.603C>T n.684C>T c.3819C>T (p.Ala1273=) c.369C>T (p.Ala123=) c.3720C>T (p.Ala1240=) c.3816C>T (p.Ala1272=) c.3666C>T (p.Ala1222=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128335483G>C | CA446310133 | FBN2 | n.603C>G n.684C>G c.3819C>G (p.Ala1273=) c.369C>G (p.Ala123=) c.3720C>G (p.Ala1240=) c.3816C>G (p.Ala1272=) c.3666C>G (p.Ala1222=) | gnomAD v4 |
| 5 | g.128335483G= | CA1581269602 | FBN2 | n.603C= n.684C= c.3819C= (p.Ala1273=) c.369C= (p.Ala123=) c.3720C= (p.Ala1240=) c.3816C= (p.Ala1272=) c.3666C= (p.Ala1222=) | |
| 5 | g.128335483G>T | CA3395135 | FBN2 | n.603C>A n.684C>A c.3819C>A (p.Ala1273=) c.369C>A (p.Ala123=) c.3720C>A (p.Ala1240=) c.3816C>A (p.Ala1272=) c.3666C>A (p.Ala1222=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128335484G>A | CA360757952 | FBN2 | n.602C>T n.683C>T c.3818C>T (p.Ala1273Val) c.368C>T (p.Ala123Val) c.3719C>T (p.Ala1240Val) c.3815C>T (p.Ala1272Val) c.3665C>T (p.Ala1222Val) | |
| 5 | g.128335484G>C | CA360757953 | FBN2 | n.602C>G n.683C>G c.3818C>G (p.Ala1273Gly) c.368C>G (p.Ala123Gly) c.3719C>G (p.Ala1240Gly) c.3815C>G (p.Ala1272Gly) c.3665C>G (p.Ala1222Gly) | |
| 5 | g.128335484G>T | CA360757954 | FBN2 | n.602C>A n.683C>A c.3818C>A (p.Ala1273Asp) c.368C>A (p.Ala123Asp) c.3719C>A (p.Ala1240Asp) c.3815C>A (p.Ala1272Asp) c.3665C>A (p.Ala1222Asp) | |
| 5 | g.128335485C>A | CA360757955 | FBN2 | n.601G>T n.682G>T c.3817G>T (p.Ala1273Ser) c.367G>T (p.Ala123Ser) c.3718G>T (p.Ala1240Ser) c.3814G>T (p.Ala1272Ser) c.3664G>T (p.Ala1222Ser) | |
| 5 | g.128335485C= | CA1581269603 | FBN2 | n.601G= n.682G= c.3817G= (p.Ala1273=) c.367G= (p.Ala123=) c.3718G= (p.Ala1240=) c.3814G= (p.Ala1272=) c.3664G= (p.Ala1222=) | |
| 5 | g.128335485C>G | CA360757956 | FBN2 | n.601G>C n.682G>C c.3817G>C (p.Ala1273Pro) c.367G>C (p.Ala123Pro) c.3718G>C (p.Ala1240Pro) c.3814G>C (p.Ala1272Pro) c.3664G>C (p.Ala1222Pro) | |
| 5 | g.128335485C>T | CA127013824 | FBN2 | n.601G>A n.682G>A c.3817G>A (p.Ala1273Thr) c.367G>A (p.Ala123Thr) c.3718G>A (p.Ala1240Thr) c.3814G>A (p.Ala1272Thr) c.3664G>A (p.Ala1222Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128335486A>C | CA360757958 | FBN2 | n.600T>G n.681T>G c.3816T>G (p.Tyr1272Ter) c.366T>G (p.Tyr122Ter) c.3717T>G (p.Tyr1239Ter) c.3813T>G (p.Tyr1271Ter) c.3663T>G (p.Tyr1221Ter) | |
| 5 | g.128335486A>G | CA446310134 | FBN2 | n.600T>C n.681T>C c.3816T>C (p.Tyr1272=) c.366T>C (p.Tyr122=) c.3717T>C (p.Tyr1239=) c.3813T>C (p.Tyr1271=) c.3663T>C (p.Tyr1221=) | |
| 5 | g.128335486A>T | CA360757957 | FBN2 | n.600T>A n.681T>A c.3816T>A (p.Tyr1272Ter) c.366T>A (p.Tyr122Ter) c.3717T>A (p.Tyr1239Ter) c.3813T>A (p.Tyr1271Ter) c.3663T>A (p.Tyr1221Ter) | |
| 5 | g.128335487T>A | CA360757959 | FBN2 | n.599A>T n.680A>T c.3815A>T (p.Tyr1272Phe) c.365A>T (p.Tyr122Phe) c.3716A>T (p.Tyr1239Phe) c.3812A>T (p.Tyr1271Phe) c.3662A>T (p.Tyr1221Phe) | |
| 5 | g.128335487T>C | CA360757961 | FBN2 | n.599A>G n.680A>G c.3815A>G (p.Tyr1272Cys) c.365A>G (p.Tyr122Cys) c.3716A>G (p.Tyr1239Cys) c.3812A>G (p.Tyr1271Cys) c.3662A>G (p.Tyr1221Cys) | ClinVar gnomAD v4 |
| 5 | g.128335487T>G | CA360757960 | FBN2 | n.599A>C n.680A>C c.3815A>C (p.Tyr1272Ser) c.365A>C (p.Tyr122Ser) c.3716A>C (p.Tyr1239Ser) c.3812A>C (p.Tyr1271Ser) c.3662A>C (p.Tyr1221Ser) | ClinVar gnomAD v4 |
| 5 | g.128335488A= | CA1581269604 | FBN2 | n.598T= n.679T= c.3814T= (p.Tyr1272=) c.364T= (p.Tyr122=) c.3715T= (p.Tyr1239=) c.3811T= (p.Tyr1271=) c.3661T= (p.Tyr1221=) | |
| 5 | g.128335488A>C | CA360757962 | FBN2 | n.598T>G n.679T>G c.3814T>G (p.Tyr1272Asp) c.364T>G (p.Tyr122Asp) c.3715T>G (p.Tyr1239Asp) c.3811T>G (p.Tyr1271Asp) c.3661T>G (p.Tyr1221Asp) | |
| 5 | g.128335488A>G | CA360757963 | FBN2 | n.598T>C n.679T>C c.3814T>C (p.Tyr1272His) c.364T>C (p.Tyr122His) c.3715T>C (p.Tyr1239His) c.3811T>C (p.Tyr1271His) c.3661T>C (p.Tyr1221His) | |
| 5 | g.128335488A>T | CA3395136 | FBN2 | n.598T>A n.679T>A c.3814T>A (p.Tyr1272Asn) c.364T>A (p.Tyr122Asn) c.3715T>A (p.Tyr1239Asn) c.3811T>A (p.Tyr1271Asn) c.3661T>A (p.Tyr1221Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335489A>C | CA446310135 | FBN2 | n.597T>G n.678T>G c.3813T>G (p.Gly1271=) c.363T>G (p.Gly121=) c.3714T>G (p.Gly1238=) c.3810T>G (p.Gly1270=) c.3660T>G (p.Gly1220=) | |
| 5 | g.128335489A>G | CA446310136 | FBN2 | n.597T>C n.678T>C c.3813T>C (p.Gly1271=) c.363T>C (p.Gly121=) c.3714T>C (p.Gly1238=) c.3810T>C (p.Gly1270=) c.3660T>C (p.Gly1220=) | |
| 5 | g.128335489A>T | CA446310137 | FBN2 | n.597T>A n.678T>A c.3813T>A (p.Gly1271=) c.363T>A (p.Gly121=) c.3714T>A (p.Gly1238=) c.3810T>A (p.Gly1270=) c.3660T>A (p.Gly1220=) | |
| 5 | g.128335490C>A | CA360757964 | FBN2 | n.596G>T n.677G>T c.3812G>T (p.Gly1271Val) c.362G>T (p.Gly121Val) c.3713G>T (p.Gly1238Val) c.3809G>T (p.Gly1270Val) c.3659G>T (p.Gly1220Val) | |
| 5 | g.128335490C= | CA1581269605 | FBN2 | n.596G= n.677G= c.3812G= (p.Gly1271=) c.362G= (p.Gly121=) c.3713G= (p.Gly1238=) c.3809G= (p.Gly1270=) c.3659G= (p.Gly1220=) | |
| 5 | g.128335490C>G | CA360757965 | FBN2 | n.596G>C n.677G>C c.3812G>C (p.Gly1271Ala) c.362G>C (p.Gly121Ala) c.3713G>C (p.Gly1238Ala) c.3809G>C (p.Gly1270Ala) c.3659G>C (p.Gly1220Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128335490C>T | CA360757966 | FBN2 | n.596G>A n.677G>A c.3812G>A (p.Gly1271Asp) c.362G>A (p.Gly121Asp) c.3713G>A (p.Gly1238Asp) c.3809G>A (p.Gly1270Asp) c.3659G>A (p.Gly1220Asp) | gnomAD v4 |
| 5 | g.128335491C>A | CA3395137 | FBN2 | n.595G>T n.676G>T c.3811G>T (p.Gly1271Cys) c.361G>T (p.Gly121Cys) c.3712G>T (p.Gly1238Cys) c.3808G>T (p.Gly1270Cys) c.3658G>T (p.Gly1220Cys) | ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.128335491C= | CA1581269606 | FBN2 | n.595G= n.676G= c.3811G= (p.Gly1271=) c.361G= (p.Gly121=) c.3712G= (p.Gly1238=) c.3808G= (p.Gly1270=) c.3658G= (p.Gly1220=) | |
| 5 | g.128335491C>G | CA360757967 | FBN2 | n.595G>C n.676G>C c.3811G>C (p.Gly1271Arg) c.361G>C (p.Gly121Arg) c.3712G>C (p.Gly1238Arg) c.3808G>C (p.Gly1270Arg) c.3658G>C (p.Gly1220Arg) | |
| 5 | g.128335491C>T | CA360757968 | FBN2 | n.595G>A n.676G>A c.3811G>A (p.Gly1271Ser) c.361G>A (p.Gly121Ser) c.3712G>A (p.Gly1238Ser) c.3808G>A (p.Gly1270Ser) c.3658G>A (p.Gly1220Ser) | |
| 5 | g.128335492C>A | CA360757969 | FBN2 | n.594G>T n.675G>T c.3810G>T (p.Glu1270Asp) c.360G>T (p.Glu120Asp) c.3711G>T (p.Glu1237Asp) c.3807G>T (p.Glu1269Asp) c.3657G>T (p.Glu1219Asp) | |
| 5 | g.128335492C>G | CA360757970 | FBN2 | n.594G>C n.675G>C c.3810G>C (p.Glu1270Asp) c.360G>C (p.Glu120Asp) c.3711G>C (p.Glu1237Asp) c.3807G>C (p.Glu1269Asp) c.3657G>C (p.Glu1219Asp) | |
| 5 | g.128335492C>T | CA446310138 | FBN2 | n.594G>A n.675G>A c.3810G>A (p.Glu1270=) c.360G>A (p.Glu120=) c.3711G>A (p.Glu1237=) c.3807G>A (p.Glu1269=) c.3657G>A (p.Glu1219=) | gnomAD v4 |
| 5 | g.128335493T>A | CA360757973 | FBN2 | n.593A>T n.674A>T c.3809A>T (p.Glu1270Val) c.359A>T (p.Glu120Val) c.3710A>T (p.Glu1237Val) c.3806A>T (p.Glu1269Val) c.3656A>T (p.Glu1219Val) | |
| 5 | g.128335493T>C | CA360757972 | FBN2 | n.593A>G n.674A>G c.3809A>G (p.Glu1270Gly) c.359A>G (p.Glu120Gly) c.3710A>G (p.Glu1237Gly) c.3806A>G (p.Glu1269Gly) c.3656A>G (p.Glu1219Gly) | |
| 5 | g.128335493T>G | CA360757971 | FBN2 | n.593A>C n.674A>C c.3809A>C (p.Glu1270Ala) c.359A>C (p.Glu120Ala) c.3710A>C (p.Glu1237Ala) c.3806A>C (p.Glu1269Ala) c.3656A>C (p.Glu1219Ala) | |
| 5 | g.128335494C>A | CA360757974 | FBN2 | n.592G>T n.673G>T c.3808G>T (p.Glu1270Ter) c.358G>T (p.Glu120Ter) c.3709G>T (p.Glu1237Ter) c.3805G>T (p.Glu1269Ter) c.3655G>T (p.Glu1219Ter) | |
| 5 | g.128335494C>G | CA360757975 | FBN2 | n.592G>C n.673G>C c.3808G>C (p.Glu1270Gln) c.358G>C (p.Glu120Gln) c.3709G>C (p.Glu1237Gln) c.3805G>C (p.Glu1269Gln) c.3655G>C (p.Glu1219Gln) | |
| 5 | g.128335494C>T | CA360757976 | FBN2 | n.592G>A n.673G>A c.3808G>A (p.Glu1270Lys) c.358G>A (p.Glu120Lys) c.3709G>A (p.Glu1237Lys) c.3805G>A (p.Glu1269Lys) c.3655G>A (p.Glu1219Lys) | |
| 5 | g.128335495A>C | CA360757977 | FBN2 | n.591T>G n.672T>G c.3807T>G (p.Ser1269Arg) c.357T>G (p.Ser119Arg) c.3708T>G (p.Ser1236Arg) c.3804T>G (p.Ser1268Arg) c.3654T>G (p.Ser1218Arg) | |
| 5 | g.128335495A>G | CA446310139 | FBN2 | n.591T>C n.672T>C c.3807T>C (p.Ser1269=) c.357T>C (p.Ser119=) c.3708T>C (p.Ser1236=) c.3804T>C (p.Ser1268=) c.3654T>C (p.Ser1218=) | |
| 5 | g.128335495A>T | CA360757978 | FBN2 | n.591T>A n.672T>A c.3807T>A (p.Ser1269Arg) c.357T>A (p.Ser119Arg) c.3708T>A (p.Ser1236Arg) c.3804T>A (p.Ser1268Arg) c.3654T>A (p.Ser1218Arg) | |
| 5 | g.128335496C>A | CA360757979 | FBN2 | n.590G>T n.671G>T c.3806G>T (p.Ser1269Ile) c.356G>T (p.Ser119Ile) c.3707G>T (p.Ser1236Ile) c.3803G>T (p.Ser1268Ile) c.3653G>T (p.Ser1218Ile) | |
| 5 | g.128335496C= | CA1581269607 | FBN2 | n.590G= n.671G= c.3806G= (p.Ser1269=) c.356G= (p.Ser119=) c.3707G= (p.Ser1236=) c.3803G= (p.Ser1268=) c.3653G= (p.Ser1218=) | |
| 5 | g.128335496C>G | CA360757980 | FBN2 | n.590G>C n.671G>C c.3806G>C (p.Ser1269Thr) c.356G>C (p.Ser119Thr) c.3707G>C (p.Ser1236Thr) c.3803G>C (p.Ser1268Thr) c.3653G>C (p.Ser1218Thr) | |
| 5 | g.128335496C>T | CA3395138 | FBN2 | n.590G>A n.671G>A c.3806G>A (p.Ser1269Asn) c.356G>A (p.Ser119Asn) c.3707G>A (p.Ser1236Asn) c.3803G>A (p.Ser1268Asn) c.3653G>A (p.Ser1218Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128335497T>A | CA360757981 | FBN2 | n.589A>T n.670A>T c.3805A>T (p.Ser1269Cys) c.355A>T (p.Ser119Cys) c.3706A>T (p.Ser1236Cys) c.3802A>T (p.Ser1268Cys) c.3652A>T (p.Ser1218Cys) | |
| 5 | g.128335497T>C | CA322231 | FBN2 | n.589A>G n.670A>G c.3805A>G (p.Ser1269Gly) c.355A>G (p.Ser119Gly) c.3706A>G (p.Ser1236Gly) c.3802A>G (p.Ser1268Gly) c.3652A>G (p.Ser1218Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335497T>G | CA360757982 | FBN2 | n.589A>C n.670A>C c.3805A>C (p.Ser1269Arg) c.355A>C (p.Ser119Arg) c.3706A>C (p.Ser1236Arg) c.3802A>C (p.Ser1268Arg) c.3652A>C (p.Ser1218Arg) | |
| 5 | g.128335497T= | CA1581269608 | FBN2 | n.589A= n.670A= c.3805A= (p.Ser1269=) c.355A= (p.Ser119=) c.3706A= (p.Ser1236=) c.3802A= (p.Ser1268=) c.3652A= (p.Ser1218=) | |
| 5 | g.128335498G>A | CA446310140 | FBN2 | n.588C>T n.669C>T c.3804C>T (p.Cys1268=) c.354C>T (p.Cys118=) c.3705C>T (p.Cys1235=) c.3801C>T (p.Cys1267=) c.3651C>T (p.Cys1217=) | |
| 5 | g.128335498G>C | CA360757983 | FBN2 | n.588C>G n.669C>G c.3804C>G (p.Cys1268Trp) c.354C>G (p.Cys118Trp) c.3705C>G (p.Cys1235Trp) c.3801C>G (p.Cys1267Trp) c.3651C>G (p.Cys1217Trp) | |
| 5 | g.128335498G>T | CA360757984 | FBN2 | n.588C>A n.669C>A c.3804C>A (p.Cys1268Ter) c.354C>A (p.Cys118Ter) c.3705C>A (p.Cys1235Ter) c.3801C>A (p.Cys1267Ter) c.3651C>A (p.Cys1217Ter) | |
| 5 | g.128335499C>A | CA360757986 | FBN2 | n.587G>T n.668G>T c.3803G>T (p.Cys1268Phe) c.353G>T (p.Cys118Phe) c.3704G>T (p.Cys1235Phe) c.3800G>T (p.Cys1267Phe) c.3650G>T (p.Cys1217Phe) | ClinVar dbSNP |
| 5 | g.128335499C= | CA1581269609 | FBN2 | n.587G= n.668G= c.3803G= (p.Cys1268=) c.353G= (p.Cys118=) c.3704G= (p.Cys1235=) c.3800G= (p.Cys1267=) c.3650G= (p.Cys1217=) | |
| 5 | g.128335499C>G | CA360757987 | FBN2 | n.587G>C n.668G>C c.3803G>C (p.Cys1268Ser) c.353G>C (p.Cys118Ser) c.3704G>C (p.Cys1235Ser) c.3800G>C (p.Cys1267Ser) c.3650G>C (p.Cys1217Ser) | ClinVar dbSNP |
| 5 | g.128335499C>T | CA360757985 | FBN2 | n.587G>A n.668G>A c.3803G>A (p.Cys1268Tyr) c.353G>A (p.Cys118Tyr) c.3704G>A (p.Cys1235Tyr) c.3800G>A (p.Cys1267Tyr) c.3650G>A (p.Cys1217Tyr) | |
| 5 | g.128335500A>C | CA360757989 | FBN2 | n.586T>G n.667T>G c.3802T>G (p.Cys1268Gly) c.352T>G (p.Cys118Gly) c.3703T>G (p.Cys1235Gly) c.3799T>G (p.Cys1267Gly) c.3649T>G (p.Cys1217Gly) | |
| 5 | g.128335500A>G | CA360757988 | FBN2 | n.586T>C n.667T>C c.3802T>C (p.Cys1268Arg) c.352T>C (p.Cys118Arg) c.3703T>C (p.Cys1235Arg) c.3799T>C (p.Cys1267Arg) c.3649T>C (p.Cys1217Arg) | |
| 5 | g.128335500A>T | CA360757990 | FBN2 | n.586T>A n.667T>A c.3802T>A (p.Cys1268Ser) c.352T>A (p.Cys118Ser) c.3703T>A (p.Cys1235Ser) c.3799T>A (p.Cys1267Ser) c.3649T>A (p.Cys1217Ser) | |
| 5 | g.128335501G>A | CA446310141 | FBN2 | n.585C>T n.666C>T c.3801C>T (p.Ser1267=) c.351C>T (p.Ser117=) c.3702C>T (p.Ser1234=) c.3798C>T (p.Ser1266=) c.3648C>T (p.Ser1216=) | |
| 5 | g.128335501G>C | CA360757991 | FBN2 | n.585C>G n.666C>G c.3801C>G (p.Ser1267Arg) c.351C>G (p.Ser117Arg) c.3702C>G (p.Ser1234Arg) c.3798C>G (p.Ser1266Arg) c.3648C>G (p.Ser1216Arg) | |
| 5 | g.128335501G>T | CA360757992 | FBN2 | n.585C>A n.666C>A c.3801C>A (p.Ser1267Arg) c.351C>A (p.Ser117Arg) c.3702C>A (p.Ser1234Arg) c.3798C>A (p.Ser1266Arg) c.3648C>A (p.Ser1216Arg) | |
| 5 | g.128335502C>A | CA360757993 | FBN2 | n.584G>T n.665G>T c.3800G>T (p.Ser1267Ile) c.350G>T (p.Ser117Ile) c.3701G>T (p.Ser1234Ile) c.3797G>T (p.Ser1266Ile) c.3647G>T (p.Ser1216Ile) | |
| 5 | g.128335502C>G | CA360757994 | FBN2 | n.584G>C n.665G>C c.3800G>C (p.Ser1267Thr) c.350G>C (p.Ser117Thr) c.3701G>C (p.Ser1234Thr) c.3797G>C (p.Ser1266Thr) c.3647G>C (p.Ser1216Thr) | gnomAD v4 |
| 5 | g.128335502C>T | CA360757995 | FBN2 | n.584G>A n.665G>A c.3800G>A (p.Ser1267Asn) c.350G>A (p.Ser117Asn) c.3701G>A (p.Ser1234Asn) c.3797G>A (p.Ser1266Asn) c.3647G>A (p.Ser1216Asn) | gnomAD v4 |
| 5 | g.128335503T>A | CA360757996 | FBN2 | n.583A>T n.664A>T c.3799A>T (p.Ser1267Cys) c.349A>T (p.Ser117Cys) c.3700A>T (p.Ser1234Cys) c.3796A>T (p.Ser1266Cys) c.3646A>T (p.Ser1216Cys) | |
| 5 | g.128335503T>C | CA127013836 | FBN2 | n.583A>G n.664A>G c.3799A>G (p.Ser1267Gly) c.349A>G (p.Ser117Gly) c.3700A>G (p.Ser1234Gly) c.3796A>G (p.Ser1266Gly) c.3646A>G (p.Ser1216Gly) | dbSNP |
| 5 | g.128335503T>G | CA360757997 | FBN2 | n.583A>C n.664A>C c.3799A>C (p.Ser1267Arg) c.349A>C (p.Ser117Arg) c.3700A>C (p.Ser1234Arg) c.3796A>C (p.Ser1266Arg) c.3646A>C (p.Ser1216Arg) | gnomAD v4 |
| 5 | g.128335503T= | CA1581269610 | FBN2 | n.583A= n.664A= c.3799A= (p.Ser1267=) c.349A= (p.Ser117=) c.3700A= (p.Ser1234=) c.3796A= (p.Ser1266=) c.3646A= (p.Ser1216=) | |
| 5 | g.128335504G>A | CA446310142 | FBN2 | n.582C>T n.663C>T c.3798C>T (p.Cys1266=) c.348C>T (p.Cys116=) c.3699C>T (p.Cys1233=) c.3795C>T (p.Cys1265=) c.3645C>T (p.Cys1215=) | gnomAD v4 |
| 5 | g.128335504G>C | CA360757998 | FBN2 | n.582C>G n.663C>G c.3798C>G (p.Cys1266Trp) c.348C>G (p.Cys116Trp) c.3699C>G (p.Cys1233Trp) c.3795C>G (p.Cys1265Trp) c.3645C>G (p.Cys1215Trp) | |
| 5 | g.128335504G>T | CA360757999 | FBN2 | n.582C>A n.663C>A c.3798C>A (p.Cys1266Ter) c.348C>A (p.Cys116Ter) c.3699C>A (p.Cys1233Ter) c.3795C>A (p.Cys1265Ter) c.3645C>A (p.Cys1215Ter) | |
| 5 | g.128335505C>A | CA360758000 | FBN2 | n.581G>T n.662G>T c.3797G>T (p.Cys1266Phe) c.347G>T (p.Cys116Phe) c.3698G>T (p.Cys1233Phe) c.3794G>T (p.Cys1265Phe) c.3644G>T (p.Cys1215Phe) | dbSNP |
| 5 | g.128335505C>G | CA360758001 | FBN2 | n.581G>C n.662G>C c.3797G>C (p.Cys1266Ser) c.347G>C (p.Cys116Ser) c.3698G>C (p.Cys1233Ser) c.3794G>C (p.Cys1265Ser) c.3644G>C (p.Cys1215Ser) | |
| 5 | g.128335505C>T | CA360758002 | FBN2 | n.581G>A n.662G>A c.3797G>A (p.Cys1266Tyr) c.347G>A (p.Cys116Tyr) c.3698G>A (p.Cys1233Tyr) c.3794G>A (p.Cys1265Tyr) c.3644G>A (p.Cys1215Tyr) | |
| 5 | g.128335506A>C | CA360758003 | FBN2 | n.580T>G n.661T>G c.3796T>G (p.Cys1266Gly) c.346T>G (p.Cys116Gly) c.3697T>G (p.Cys1233Gly) c.3793T>G (p.Cys1265Gly) c.3643T>G (p.Cys1215Gly) | |
| 5 | g.128335506A>G | CA360758005 | FBN2 | n.580T>C n.661T>C c.3796T>C (p.Cys1266Arg) c.346T>C (p.Cys116Arg) c.3697T>C (p.Cys1233Arg) c.3793T>C (p.Cys1265Arg) c.3643T>C (p.Cys1215Arg) | |
| 5 | g.128335506A>T | CA360758004 | FBN2 | n.580T>A n.661T>A c.3796T>A (p.Cys1266Ser) c.346T>A (p.Cys116Ser) c.3697T>A (p.Cys1233Ser) c.3793T>A (p.Cys1265Ser) c.3643T>A (p.Cys1215Ser) | |
| 5 | g.128335507T>A | CA360758006 | FBN2 | n.579A>T n.660A>T c.3795A>T (p.Glu1265Asp) c.345A>T (p.Glu115Asp) c.3696A>T (p.Glu1232Asp) c.3792A>T (p.Glu1264Asp) c.3642A>T (p.Glu1214Asp) | |
| 5 | g.128335507T>C | CA446310143 | FBN2 | n.579A>G n.660A>G c.3795A>G (p.Glu1265=) c.345A>G (p.Glu115=) c.3696A>G (p.Glu1232=) c.3792A>G (p.Glu1264=) c.3642A>G (p.Glu1214=) | gnomAD v4 |
| 5 | g.128335507T>G | CA360758007 | FBN2 | n.579A>C n.660A>C c.3795A>C (p.Glu1265Asp) c.345A>C (p.Glu115Asp) c.3696A>C (p.Glu1232Asp) c.3792A>C (p.Glu1264Asp) c.3642A>C (p.Glu1214Asp) | |
| 5 | g.128335508T>A | CA360758008 | FBN2 | n.578A>T n.659A>T c.3794A>T (p.Glu1265Val) c.344A>T (p.Glu115Val) c.3695A>T (p.Glu1232Val) c.3791A>T (p.Glu1264Val) c.3641A>T (p.Glu1214Val) | |
| 5 | g.128335508T>C | CA360758009 | FBN2 | n.578A>G n.659A>G c.3794A>G (p.Glu1265Gly) c.344A>G (p.Glu115Gly) c.3695A>G (p.Glu1232Gly) c.3791A>G (p.Glu1264Gly) c.3641A>G (p.Glu1214Gly) | |
| 5 | g.128335508T>G | CA360758010 | FBN2 | n.578A>C n.659A>C c.3794A>C (p.Glu1265Ala) c.344A>C (p.Glu115Ala) c.3695A>C (p.Glu1232Ala) c.3791A>C (p.Glu1264Ala) c.3641A>C (p.Glu1214Ala) | |
| 5 | g.128335509C>A | CA360758011 | FBN2 | n.577G>T n.658G>T c.3793G>T (p.Glu1265Ter) c.343G>T (p.Glu115Ter) c.3694G>T (p.Glu1232Ter) c.3790G>T (p.Glu1264Ter) c.3640G>T (p.Glu1214Ter) | |
| 5 | g.128335509C= | CA1581269611 | FBN2 | n.577G= n.658G= c.3793G= (p.Glu1265=) c.343G= (p.Glu115=) c.3694G= (p.Glu1232=) c.3790G= (p.Glu1264=) c.3640G= (p.Glu1214=) | |
| 5 | g.128335509C>G | CA360758012 | FBN2 | n.577G>C n.658G>C c.3793G>C (p.Glu1265Gln) c.343G>C (p.Glu115Gln) c.3694G>C (p.Glu1232Gln) c.3790G>C (p.Glu1264Gln) c.3640G>C (p.Glu1214Gln) | gnomAD v4 |
| 5 | g.128335509C>T | CA321025 | FBN2 | n.577G>A n.658G>A c.3793G>A (p.Glu1265Lys) c.343G>A (p.Glu115Lys) c.3694G>A (p.Glu1232Lys) c.3790G>A (p.Glu1264Lys) c.3640G>A (p.Glu1214Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128335510G>A | CA446310144 | FBN2 | n.576C>T n.657C>T c.3792C>T (p.Tyr1264=) c.342C>T (p.Tyr114=) c.3693C>T (p.Tyr1231=) c.3789C>T (p.Tyr1263=) c.3639C>T (p.Tyr1213=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335510G>C | CA360758013 | FBN2 | n.576C>G n.657C>G c.3792C>G (p.Tyr1264Ter) c.342C>G (p.Tyr114Ter) c.3693C>G (p.Tyr1231Ter) c.3789C>G (p.Tyr1263Ter) c.3639C>G (p.Tyr1213Ter) | COSMIC COSMIC |
| 5 | g.128335510G= | CA1581269612 | FBN2 | n.576C= n.657C= c.3792C= (p.Tyr1264=) c.342C= (p.Tyr114=) c.3693C= (p.Tyr1231=) c.3789C= (p.Tyr1263=) c.3639C= (p.Tyr1213=) | |
| 5 | g.128335510G>T | CA360758014 | FBN2 | n.576C>A n.657C>A c.3792C>A (p.Tyr1264Ter) c.342C>A (p.Tyr114Ter) c.3693C>A (p.Tyr1231Ter) c.3789C>A (p.Tyr1263Ter) c.3639C>A (p.Tyr1213Ter) | |
| 5 | g.128335511T>A | CA360758017 | FBN2 | n.575A>T n.656A>T c.3791A>T (p.Tyr1264Phe) c.341A>T (p.Tyr114Phe) c.3692A>T (p.Tyr1231Phe) c.3788A>T (p.Tyr1263Phe) c.3638A>T (p.Tyr1213Phe) | |
| 5 | g.128335511T>C | CA360758016 | FBN2 | n.575A>G n.656A>G c.3791A>G (p.Tyr1264Cys) c.341A>G (p.Tyr114Cys) c.3692A>G (p.Tyr1231Cys) c.3788A>G (p.Tyr1263Cys) c.3638A>G (p.Tyr1213Cys) | |
| 5 | g.128335511T>G | CA360758015 | FBN2 | n.575A>C n.656A>C c.3791A>C (p.Tyr1264Ser) c.341A>C (p.Tyr114Ser) c.3692A>C (p.Tyr1231Ser) c.3788A>C (p.Tyr1263Ser) c.3638A>C (p.Tyr1213Ser) | |
| 5 | g.128335512A>C | CA360758018 | FBN2 | n.574T>G n.655T>G c.3790T>G (p.Tyr1264Asp) c.340T>G (p.Tyr114Asp) c.3691T>G (p.Tyr1231Asp) c.3787T>G (p.Tyr1263Asp) c.3637T>G (p.Tyr1213Asp) | |
| 5 | g.128335512A>G | CA360758019 | FBN2 | n.574T>C n.655T>C c.3790T>C (p.Tyr1264His) c.340T>C (p.Tyr114His) c.3691T>C (p.Tyr1231His) c.3787T>C (p.Tyr1263His) c.3637T>C (p.Tyr1213His) | gnomAD v4 |
| 5 | g.128335512A>T | CA360758020 | FBN2 | n.574T>A n.655T>A c.3790T>A (p.Tyr1264Asn) c.340T>A (p.Tyr114Asn) c.3691T>A (p.Tyr1231Asn) c.3787T>A (p.Tyr1263Asn) c.3637T>A (p.Tyr1213Asn) | ClinVar |
| 5 | g.128335513G>A | CA446310145 | FBN2 | n.573C>T n.654C>T c.3789C>T (p.Ser1263=) c.339C>T (p.Ser113=) c.3690C>T (p.Ser1230=) c.3786C>T (p.Ser1262=) c.3636C>T (p.Ser1212=) | |
| 5 | g.128335513G>C | CA360758021 | FBN2 | n.573C>G n.654C>G c.3789C>G (p.Ser1263Arg) c.339C>G (p.Ser113Arg) c.3690C>G (p.Ser1230Arg) c.3786C>G (p.Ser1262Arg) c.3636C>G (p.Ser1212Arg) | |
| 5 | g.128335513G>T | CA360758022 | FBN2 | n.573C>A n.654C>A c.3789C>A (p.Ser1263Arg) c.339C>A (p.Ser113Arg) c.3690C>A (p.Ser1230Arg) c.3786C>A (p.Ser1262Arg) c.3636C>A (p.Ser1212Arg) | |
| 5 | g.128335514C>A | CA360758025 | FBN2 | n.572G>T n.653G>T c.3788G>T (p.Ser1263Ile) c.338G>T (p.Ser113Ile) c.3689G>T (p.Ser1230Ile) c.3785G>T (p.Ser1262Ile) c.3635G>T (p.Ser1212Ile) | |
| 5 | g.128335514C= | CA1581269613 | FBN2 | n.572G= n.653G= c.3788G= (p.Ser1263=) c.338G= (p.Ser113=) c.3689G= (p.Ser1230=) c.3785G= (p.Ser1262=) c.3635G= (p.Ser1212=) | |
| 5 | g.128335514C>G | CA360758024 | FBN2 | n.572G>C n.653G>C c.3788G>C (p.Ser1263Thr) c.338G>C (p.Ser113Thr) c.3689G>C (p.Ser1230Thr) c.3785G>C (p.Ser1262Thr) c.3635G>C (p.Ser1212Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128335514C>T | CA360758023 | FBN2 | n.572G>A n.653G>A c.3788G>A (p.Ser1263Asn) c.338G>A (p.Ser113Asn) c.3689G>A (p.Ser1230Asn) c.3785G>A (p.Ser1262Asn) c.3635G>A (p.Ser1212Asn) | gnomAD v4 |
| 5 | g.128335515T>A | CA360758026 | FBN2 | n.571A>T n.652A>T c.3787A>T (p.Ser1263Cys) c.337A>T (p.Ser113Cys) c.3688A>T (p.Ser1230Cys) c.3784A>T (p.Ser1262Cys) c.3634A>T (p.Ser1212Cys) | |
| 5 | g.128335515T>C | CA360758027 | FBN2 | n.571A>G n.652A>G c.3787A>G (p.Ser1263Gly) c.337A>G (p.Ser113Gly) c.3688A>G (p.Ser1230Gly) c.3784A>G (p.Ser1262Gly) c.3634A>G (p.Ser1212Gly) | |
| 5 | g.128335515T>G | CA360758028 | FBN2 | n.571A>C n.652A>C c.3787A>C (p.Ser1263Arg) c.337A>C (p.Ser113Arg) c.3688A>C (p.Ser1230Arg) c.3784A>C (p.Ser1262Arg) c.3634A>C (p.Ser1212Arg) | gnomAD v4 |
| 5 | g.128335516T>A | CA446310147 | FBN2 | n.570A>T n.651A>T c.3786A>T (p.Gly1262=) c.336A>T (p.Gly112=) c.3687A>T (p.Gly1229=) c.3783A>T (p.Gly1261=) c.3633A>T (p.Gly1211=) | |
| 5 | g.128335516T>C | CA446310148 | FBN2 | n.570A>G n.651A>G c.3786A>G (p.Gly1262=) c.336A>G (p.Gly112=) c.3687A>G (p.Gly1229=) c.3783A>G (p.Gly1261=) c.3633A>G (p.Gly1211=) | |
| 5 | g.128335516T>G | CA446310146 | FBN2 | n.570A>C n.651A>C c.3786A>C (p.Gly1262=) c.336A>C (p.Gly112=) c.3687A>C (p.Gly1229=) c.3783A>C (p.Gly1261=) c.3633A>C (p.Gly1211=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128335516T= | CA1581269614 | FBN2 | n.570A= n.651A= c.3786A= (p.Gly1262=) c.336A= (p.Gly112=) c.3687A= (p.Gly1229=) c.3783A= (p.Gly1261=) c.3633A= (p.Gly1211=) | |
| 5 | g.128335517C>A | CA360758029 | FBN2 | n.569G>T n.650G>T c.3785G>T (p.Gly1262Val) c.335G>T (p.Gly112Val) c.3686G>T (p.Gly1229Val) c.3782G>T (p.Gly1261Val) c.3632G>T (p.Gly1211Val) | |
| 5 | g.128335517C>G | CA360758030 | FBN2 | n.569G>C n.650G>C c.3785G>C (p.Gly1262Ala) c.335G>C (p.Gly112Ala) c.3686G>C (p.Gly1229Ala) c.3782G>C (p.Gly1261Ala) c.3632G>C (p.Gly1211Ala) | |
| 5 | g.128335517C>T | CA360758031 | FBN2 | n.569G>A n.650G>A c.3785G>A (p.Gly1262Glu) c.335G>A (p.Gly112Glu) c.3686G>A (p.Gly1229Glu) c.3782G>A (p.Gly1261Glu) c.3632G>A (p.Gly1211Glu) | COSMIC COSMIC |
| 5 | g.128335518C>A | CA360758032 | FBN2 | n.568G>T n.649G>T c.3784G>T (p.Gly1262Ter) c.334G>T (p.Gly112Ter) c.3685G>T (p.Gly1229Ter) c.3781G>T (p.Gly1261Ter) c.3631G>T (p.Gly1211Ter) | |
| 5 | g.128335518C= | CA1581269615 | FBN2 | n.568G= n.649G= c.3784G= (p.Gly1262=) c.334G= (p.Gly112=) c.3685G= (p.Gly1229=) c.3781G= (p.Gly1261=) c.3631G= (p.Gly1211=) | |
| 5 | g.128335518C>G | CA360758033 | FBN2 | n.568G>C n.649G>C c.3784G>C (p.Gly1262Arg) c.334G>C (p.Gly112Arg) c.3685G>C (p.Gly1229Arg) c.3781G>C (p.Gly1261Arg) c.3631G>C (p.Gly1211Arg) | |
| 5 | g.128335518C>T | CA3395139 | FBN2 | n.568G>A n.649G>A c.3784G>A (p.Gly1262Arg) c.334G>A (p.Gly112Arg) c.3685G>A (p.Gly1229Arg) c.3781G>A (p.Gly1261Arg) c.3631G>A (p.Gly1211Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128335519C>A | CA360758034 | FBN2 | n.567G>T n.648G>T c.3783G>T (p.Glu1261Asp) c.333G>T (p.Glu111Asp) c.3684G>T (p.Glu1228Asp) c.3780G>T (p.Glu1260Asp) c.3630G>T (p.Glu1210Asp) | |
| 5 | g.128335519C= | CA1581269616 | FBN2 | n.567G= n.648G= c.3783G= (p.Glu1261=) c.333G= (p.Glu111=) c.3684G= (p.Glu1228=) c.3780G= (p.Glu1260=) c.3630G= (p.Glu1210=) | |
| 5 | g.128335519C>G | CA360758035 | FBN2 | n.567G>C n.648G>C c.3783G>C (p.Glu1261Asp) c.333G>C (p.Glu111Asp) c.3684G>C (p.Glu1228Asp) c.3780G>C (p.Glu1260Asp) c.3630G>C (p.Glu1210Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335519C>T | CA446310150 | FBN2 | n.567G>A n.648G>A c.3783G>A (p.Glu1261=) c.333G>A (p.Glu111=) c.3684G>A (p.Glu1228=) c.3780G>A (p.Glu1260=) c.3630G>A (p.Glu1210=) | |
| 5 | g.128335520T>A | CA360758036 | FBN2 | n.566A>T n.647A>T c.3782A>T (p.Glu1261Val) c.332A>T (p.Glu111Val) c.3683A>T (p.Glu1228Val) c.3779A>T (p.Glu1260Val) c.3629A>T (p.Glu1210Val) | |
| 5 | g.128335520T>C | CA360758037 | FBN2 | n.566A>G n.647A>G c.3782A>G (p.Glu1261Gly) c.332A>G (p.Glu111Gly) c.3683A>G (p.Glu1228Gly) c.3779A>G (p.Glu1260Gly) c.3629A>G (p.Glu1210Gly) | |
| 5 | g.128335520T>G | CA360758038 | FBN2 | n.566A>C n.647A>C c.3782A>C (p.Glu1261Ala) c.332A>C (p.Glu111Ala) c.3683A>C (p.Glu1228Ala) c.3779A>C (p.Glu1260Ala) c.3629A>C (p.Glu1210Ala) | |
| 5 | g.128335521C>A | CA360758039 | FBN2 | n.565G>T n.646G>T c.3781G>T (p.Glu1261Ter) c.331G>T (p.Glu111Ter) c.3682G>T (p.Glu1228Ter) c.3778G>T (p.Glu1260Ter) c.3628G>T (p.Glu1210Ter) | |
| 5 | g.128335521C= | CA1581269617 | FBN2 | n.565G= n.646G= c.3781G= (p.Glu1261=) c.331G= (p.Glu111=) c.3682G= (p.Glu1228=) c.3778G= (p.Glu1260=) c.3628G= (p.Glu1210=) | |
| 5 | g.128335521C>G | CA360758040 | FBN2 | n.565G>C n.646G>C c.3781G>C (p.Glu1261Gln) c.331G>C (p.Glu111Gln) c.3682G>C (p.Glu1228Gln) c.3778G>C (p.Glu1260Gln) c.3628G>C (p.Glu1210Gln) | |
| 5 | g.128335521C>T | CA127013847 | FBN2 | n.565G>A n.646G>A c.3781G>A (p.Glu1261Lys) c.331G>A (p.Glu111Lys) c.3682G>A (p.Glu1228Lys) c.3778G>A (p.Glu1260Lys) c.3628G>A (p.Glu1210Lys) | dbSNP gnomAD v4 |
| 5 | g.128335522T>A | CA446310153 | FBN2 | n.564A>T n.645A>T c.3780A>T (p.Ser1260=) c.330A>T (p.Ser110=) c.3681A>T (p.Ser1227=) c.3777A>T (p.Ser1259=) c.3627A>T (p.Ser1209=) | |
| 5 | g.128335522T>C | CA446310151 | FBN2 | n.564A>G n.645A>G c.3780A>G (p.Ser1260=) c.330A>G (p.Ser110=) c.3681A>G (p.Ser1227=) c.3777A>G (p.Ser1259=) c.3627A>G (p.Ser1209=) | |
| 5 | g.128335522T>G | CA446310152 | FBN2 | n.564A>C n.645A>C c.3780A>C (p.Ser1260=) c.330A>C (p.Ser110=) c.3681A>C (p.Ser1227=) c.3777A>C (p.Ser1259=) c.3627A>C (p.Ser1209=) | |
| 5 | g.128335523G>A | CA360758041 | FBN2 | n.563C>T n.644C>T c.3779C>T (p.Ser1260Leu) c.329C>T (p.Ser110Leu) c.3680C>T (p.Ser1227Leu) c.3776C>T (p.Ser1259Leu) c.3626C>T (p.Ser1209Leu) | COSMIC COSMIC |
| 5 | g.128335523G>C | CA360758042 | FBN2 | n.563C>G n.644C>G c.3779C>G (p.Ser1260Ter) c.329C>G (p.Ser110Ter) c.3680C>G (p.Ser1227Ter) c.3776C>G (p.Ser1259Ter) c.3626C>G (p.Ser1209Ter) | |
| 5 | g.128335523G>T | CA360758043 | FBN2 | n.563C>A n.644C>A c.3779C>A (p.Ser1260Ter) c.329C>A (p.Ser110Ter) c.3680C>A (p.Ser1227Ter) c.3776C>A (p.Ser1259Ter) c.3626C>A (p.Ser1209Ter) | |
| 5 | g.128335524A>C | CA360758045 | FBN2 | n.562T>G n.643T>G c.3778T>G (p.Ser1260Ala) c.328T>G (p.Ser110Ala) c.3679T>G (p.Ser1227Ala) c.3775T>G (p.Ser1259Ala) c.3625T>G (p.Ser1209Ala) | |
| 5 | g.128335524A>G | CA360758046 | FBN2 | n.562T>C n.643T>C c.3778T>C (p.Ser1260Pro) c.328T>C (p.Ser110Pro) c.3679T>C (p.Ser1227Pro) c.3775T>C (p.Ser1259Pro) c.3625T>C (p.Ser1209Pro) | ClinVar |
| 5 | g.128335524A>T | CA360758044 | FBN2 | n.562T>A n.643T>A c.3778T>A (p.Ser1260Thr) c.328T>A (p.Ser110Thr) c.3679T>A (p.Ser1227Thr) c.3775T>A (p.Ser1259Thr) c.3625T>A (p.Ser1209Thr) | gnomAD v4 |
| 5 | g.128335525A= | CA1581269618 | FBN2 | n.561T= n.642T= c.3777T= (p.Asn1259=) c.327T= (p.Asn109=) c.3678T= (p.Asn1226=) c.3774T= (p.Asn1258=) c.3624T= (p.Asn1208=) | |
| 5 | g.128335525A>C | CA360758047 | FBN2 | n.561T>G n.642T>G c.3777T>G (p.Asn1259Lys) c.327T>G (p.Asn109Lys) c.3678T>G (p.Asn1226Lys) c.3774T>G (p.Asn1258Lys) c.3624T>G (p.Asn1208Lys) | |
| 5 | g.128335525A>G | CA446310154 | FBN2 | n.561T>C n.642T>C c.3777T>C (p.Asn1259=) c.327T>C (p.Asn109=) c.3678T>C (p.Asn1226=) c.3774T>C (p.Asn1258=) c.3624T>C (p.Asn1208=) | |
| 5 | g.128335525A>T | CA281519 | FBN2 | n.561T>A n.642T>A c.3777T>A (p.Asn1259Lys) c.327T>A (p.Asn109Lys) c.3678T>A (p.Asn1226Lys) c.3774T>A (p.Asn1258Lys) c.3624T>A (p.Asn1208Lys) | ClinVar dbSNP |
| 5 | g.128335526T>A | CA360758048 | FBN2 | n.560A>T n.641A>T c.3776A>T (p.Asn1259Ile) c.326A>T (p.Asn109Ile) c.3677A>T (p.Asn1226Ile) c.3773A>T (p.Asn1258Ile) c.3623A>T (p.Asn1208Ile) | ClinVar dbSNP |
| 5 | g.128335526T>C | CA360758049 | FBN2 | n.560A>G n.641A>G c.3776A>G (p.Asn1259Ser) c.326A>G (p.Asn109Ser) c.3677A>G (p.Asn1226Ser) c.3773A>G (p.Asn1258Ser) c.3623A>G (p.Asn1208Ser) | |
| 5 | g.128335526T>G | CA360758050 | FBN2 | n.560A>C n.641A>C c.3776A>C (p.Asn1259Thr) c.326A>C (p.Asn109Thr) c.3677A>C (p.Asn1226Thr) c.3773A>C (p.Asn1258Thr) c.3623A>C (p.Asn1208Thr) | |
| 5 | g.128335526T= | CA1581269619 | FBN2 | n.560A= n.641A= c.3776A= (p.Asn1259=) c.326A= (p.Asn109=) c.3677A= (p.Asn1226=) c.3773A= (p.Asn1258=) c.3623A= (p.Asn1208=) | |
| 5 | g.128335527T>A | CA360758051 | FBN2 | n.559A>T n.640A>T c.3775A>T (p.Asn1259Tyr) c.325A>T (p.Asn109Tyr) c.3676A>T (p.Asn1226Tyr) c.3772A>T (p.Asn1258Tyr) c.3622A>T (p.Asn1208Tyr) | |
| 5 | g.128335527T>C | CA360758052 | FBN2 | n.559A>G n.640A>G c.3775A>G (p.Asn1259Asp) c.325A>G (p.Asn109Asp) c.3676A>G (p.Asn1226Asp) c.3772A>G (p.Asn1258Asp) c.3622A>G (p.Asn1208Asp) | |
| 5 | g.128335527T>G | CA360758053 | FBN2 | n.559A>C n.640A>C c.3775A>C (p.Asn1259His) c.325A>C (p.Asn109His) c.3676A>C (p.Asn1226His) c.3772A>C (p.Asn1258His) c.3622A>C (p.Asn1208His) | |
| 5 | g.128335528T>A | CA446310160 | FBN2 | n.558A>T n.639A>T c.3774A>T (p.Thr1258=) c.324A>T (p.Thr108=) c.3675A>T (p.Thr1225=) c.3771A>T (p.Thr1257=) c.3621A>T (p.Thr1207=) | |
| 5 | g.128335528T>C | CA446310158 | FBN2 | n.558A>G n.639A>G c.3774A>G (p.Thr1258=) c.324A>G (p.Thr108=) c.3675A>G (p.Thr1225=) c.3771A>G (p.Thr1257=) c.3621A>G (p.Thr1207=) | |
| 5 | g.128335528T>G | CA446310159 | FBN2 | n.558A>C n.639A>C c.3774A>C (p.Thr1258=) c.324A>C (p.Thr108=) c.3675A>C (p.Thr1225=) c.3771A>C (p.Thr1257=) c.3621A>C (p.Thr1207=) | |
| 5 | g.128335529G>A | CA360758054 | FBN2 | n.557C>T n.638C>T c.3773C>T (p.Thr1258Ile) c.323C>T (p.Thr108Ile) c.3674C>T (p.Thr1225Ile) c.3770C>T (p.Thr1257Ile) c.3620C>T (p.Thr1207Ile) | |
| 5 | g.128335529G>C | CA360758055 | FBN2 | n.557C>G n.638C>G c.3773C>G (p.Thr1258Arg) c.323C>G (p.Thr108Arg) c.3674C>G (p.Thr1225Arg) c.3770C>G (p.Thr1257Arg) c.3620C>G (p.Thr1207Arg) | ClinVar gnomAD v4 |
| 5 | g.128335529G>T | CA360758056 | FBN2 | n.557C>A n.638C>A c.3773C>A (p.Thr1258Lys) c.323C>A (p.Thr108Lys) c.3674C>A (p.Thr1225Lys) c.3770C>A (p.Thr1257Lys) c.3620C>A (p.Thr1207Lys) | |
| 5 | g.128335530T>A | CA360758057 | FBN2 | n.556A>T n.637A>T c.3772A>T (p.Thr1258Ser) c.322A>T (p.Thr108Ser) c.3673A>T (p.Thr1225Ser) c.3769A>T (p.Thr1257Ser) c.3619A>T (p.Thr1207Ser) | |
| 5 | g.128335530T>C | CA360758058 | FBN2 | n.556A>G n.637A>G c.3772A>G (p.Thr1258Ala) c.322A>G (p.Thr108Ala) c.3673A>G (p.Thr1225Ala) c.3769A>G (p.Thr1257Ala) c.3619A>G (p.Thr1207Ala) | |
| 5 | g.128335530T>G | CA360758059 | FBN2 | n.556A>C n.637A>C c.3772A>C (p.Thr1258Pro) c.322A>C (p.Thr108Pro) c.3673A>C (p.Thr1225Pro) c.3769A>C (p.Thr1257Pro) c.3619A>C (p.Thr1207Pro) | |
| 5 | g.128335531G>A | CA446310162 | FBN2 | n.555C>T n.636C>T c.3771C>T (p.Cys1257=) c.321C>T (p.Cys107=) c.3672C>T (p.Cys1224=) c.3768C>T (p.Cys1256=) c.3618C>T (p.Cys1206=) | |
| 5 | g.128335531G>C | CA360758061 | FBN2 | n.555C>G n.636C>G c.3771C>G (p.Cys1257Trp) c.321C>G (p.Cys107Trp) c.3672C>G (p.Cys1224Trp) c.3768C>G (p.Cys1256Trp) c.3618C>G (p.Cys1206Trp) | |
| 5 | g.128335531G>T | CA360758060 | FBN2 | n.555C>A n.636C>A c.3771C>A (p.Cys1257Ter) c.321C>A (p.Cys107Ter) c.3672C>A (p.Cys1224Ter) c.3768C>A (p.Cys1256Ter) c.3618C>A (p.Cys1206Ter) | COSMIC COSMIC |
| 5 | g.128335532C>A | CA360758062 | FBN2 | n.554G>T n.635G>T c.3770G>T (p.Cys1257Phe) c.320G>T (p.Cys107Phe) c.3671G>T (p.Cys1224Phe) c.3767G>T (p.Cys1256Phe) c.3617G>T (p.Cys1206Phe) | |
| 5 | g.128335532C>G | CA360758063 | FBN2 | n.554G>C n.635G>C c.3770G>C (p.Cys1257Ser) c.320G>C (p.Cys107Ser) c.3671G>C (p.Cys1224Ser) c.3767G>C (p.Cys1256Ser) c.3617G>C (p.Cys1206Ser) | |
| 5 | g.128335532C>T | CA360758064 | FBN2 | n.554G>A n.635G>A c.3770G>A (p.Cys1257Tyr) c.320G>A (p.Cys107Tyr) c.3671G>A (p.Cys1224Tyr) c.3767G>A (p.Cys1256Tyr) c.3617G>A (p.Cys1206Tyr) | ClinVar |
| 5 | g.128335533A= | CA1581269620 | FBN2 | n.553T= n.634T= c.3769T= (p.Cys1257=) c.319T= (p.Cys107=) c.3670T= (p.Cys1224=) c.3766T= (p.Cys1256=) c.3616T= (p.Cys1206=) | |
| 5 | g.128335533A>C | CA360758065 | FBN2 | n.553T>G n.634T>G c.3769T>G (p.Cys1257Gly) c.319T>G (p.Cys107Gly) c.3670T>G (p.Cys1224Gly) c.3766T>G (p.Cys1256Gly) c.3616T>G (p.Cys1206Gly) | ClinVar dbSNP |
| 5 | g.128335533A>G | CA360758066 | FBN2 | n.553T>C n.634T>C c.3769T>C (p.Cys1257Arg) c.319T>C (p.Cys107Arg) c.3670T>C (p.Cys1224Arg) c.3766T>C (p.Cys1256Arg) c.3616T>C (p.Cys1206Arg) | |
| 5 | g.128335533A>T | CA360758067 | FBN2 | n.553T>A n.634T>A c.3769T>A (p.Cys1257Ser) c.319T>A (p.Cys107Ser) c.3670T>A (p.Cys1224Ser) c.3766T>A (p.Cys1256Ser) c.3616T>A (p.Cys1206Ser) | |
| 5 | g.128335534C>A | CA360758069 | FBN2 | n.552G>T n.633G>T c.3768G>T (p.Gln1256His) c.318G>T (p.Gln106His) c.3669G>T (p.Gln1223His) c.3765G>T (p.Gln1255His) c.3615G>T (p.Gln1205His) | gnomAD v4 |
| 5 | g.128335534C>G | CA360758068 | FBN2 | n.552G>C n.633G>C c.3768G>C (p.Gln1256His) c.318G>C (p.Gln106His) c.3669G>C (p.Gln1223His) c.3765G>C (p.Gln1255His) c.3615G>C (p.Gln1205His) | |
| 5 | g.128335534C>T | CA446310163 | FBN2 | n.552G>A n.633G>A c.3768G>A (p.Gln1256=) c.318G>A (p.Gln106=) c.3669G>A (p.Gln1223=) c.3765G>A (p.Gln1255=) c.3615G>A (p.Gln1205=) | |
| 5 | g.128335535T>A | CA360758070 | FBN2 | n.551A>T n.632A>T c.3767A>T (p.Gln1256Leu) c.317A>T (p.Gln106Leu) c.3668A>T (p.Gln1223Leu) c.3764A>T (p.Gln1255Leu) c.3614A>T (p.Gln1205Leu) | |
| 5 | g.128335535T>C | CA320664 | FBN2 | n.551A>G n.632A>G c.3767A>G (p.Gln1256Arg) c.317A>G (p.Gln106Arg) c.3668A>G (p.Gln1223Arg) c.3764A>G (p.Gln1255Arg) c.3614A>G (p.Gln1205Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335535T>G | CA360758071 | FBN2 | n.551A>C n.632A>C c.3767A>C (p.Gln1256Pro) c.317A>C (p.Gln106Pro) c.3668A>C (p.Gln1223Pro) c.3764A>C (p.Gln1255Pro) c.3614A>C (p.Gln1205Pro) | |
| 5 | g.128335535T= | CA1581269621 | FBN2 | n.551A= n.632A= c.3767A= (p.Gln1256=) c.317A= (p.Gln106=) c.3668A= (p.Gln1223=) c.3764A= (p.Gln1255=) c.3614A= (p.Gln1205=) | |
| 5 | g.128335536G>A | CA360758072 | FBN2 | n.550C>T n.631C>T c.3766C>T (p.Gln1256Ter) c.316C>T (p.Gln106Ter) c.3667C>T (p.Gln1223Ter) c.3763C>T (p.Gln1255Ter) c.3613C>T (p.Gln1205Ter) | |
| 5 | g.128335536G>C | CA360758073 | FBN2 | n.550C>G n.631C>G c.3766C>G (p.Gln1256Glu) c.316C>G (p.Gln106Glu) c.3667C>G (p.Gln1223Glu) c.3763C>G (p.Gln1255Glu) c.3613C>G (p.Gln1205Glu) | |
| 5 | g.128335536G>T | CA360758074 | FBN2 | n.550C>A n.631C>A c.3766C>A (p.Gln1256Lys) c.316C>A (p.Gln106Lys) c.3667C>A (p.Gln1223Lys) c.3763C>A (p.Gln1255Lys) c.3613C>A (p.Gln1205Lys) | |
| 5 | g.128335537G>A | CA446310164 | FBN2 | n.549C>T n.630C>T c.3765C>T (p.Thr1255=) c.315C>T (p.Thr105=) c.3666C>T (p.Thr1222=) c.3762C>T (p.Thr1254=) c.3612C>T (p.Thr1204=) | |
| 5 | g.128335537G>C | CA446310165 | FBN2 | n.549C>G n.630C>G c.3765C>G (p.Thr1255=) c.315C>G (p.Thr105=) c.3666C>G (p.Thr1222=) c.3762C>G (p.Thr1254=) c.3612C>G (p.Thr1204=) | |
| 5 | g.128335537G>T | CA446310166 | FBN2 | n.549C>A n.630C>A c.3765C>A (p.Thr1255=) c.315C>A (p.Thr105=) c.3666C>A (p.Thr1222=) c.3762C>A (p.Thr1254=) c.3612C>A (p.Thr1204=) | |
| 5 | g.128335538G>A | CA360758075 | FBN2 | n.548C>T n.629C>T c.3764C>T (p.Thr1255Ile) c.314C>T (p.Thr105Ile) c.3665C>T (p.Thr1222Ile) c.3761C>T (p.Thr1254Ile) c.3611C>T (p.Thr1204Ile) | |
| 5 | g.128335538G>C | CA360758077 | FBN2 | n.548C>G n.629C>G c.3764C>G (p.Thr1255Ser) c.314C>G (p.Thr105Ser) c.3665C>G (p.Thr1222Ser) c.3761C>G (p.Thr1254Ser) c.3611C>G (p.Thr1204Ser) | |
| 5 | g.128335538G>T | CA360758076 | FBN2 | n.548C>A n.629C>A c.3764C>A (p.Thr1255Asn) c.314C>A (p.Thr105Asn) c.3665C>A (p.Thr1222Asn) c.3761C>A (p.Thr1254Asn) c.3611C>A (p.Thr1204Asn) | |
| 5 | g.128335539T>A | CA360758078 | FBN2 | n.547A>T n.628A>T c.3763A>T (p.Thr1255Ser) c.313A>T (p.Thr105Ser) c.3664A>T (p.Thr1222Ser) c.3760A>T (p.Thr1254Ser) c.3610A>T (p.Thr1204Ser) | |
| 5 | g.128335539T>C | CA360758079 | FBN2 | n.547A>G n.628A>G c.3763A>G (p.Thr1255Ala) c.313A>G (p.Thr105Ala) c.3664A>G (p.Thr1222Ala) c.3760A>G (p.Thr1254Ala) c.3610A>G (p.Thr1204Ala) | |
| 5 | g.128335539T>G | CA360758080 | FBN2 | n.547A>C n.628A>C c.3763A>C (p.Thr1255Pro) c.313A>C (p.Thr105Pro) c.3664A>C (p.Thr1222Pro) c.3760A>C (p.Thr1254Pro) c.3610A>C (p.Thr1204Pro) | |
| 5 | g.128335540G>A | CA302917 | FBN2 | n.546C>T n.627C>T c.3762C>T (p.Asp1254=) c.312C>T (p.Asp104=) c.3663C>T (p.Asp1221=) c.3759C>T (p.Asp1253=) c.3609C>T (p.Asp1203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335540G>C | CA360758081 | FBN2 | n.546C>G n.627C>G c.3762C>G (p.Asp1254Glu) c.312C>G (p.Asp104Glu) c.3663C>G (p.Asp1221Glu) c.3759C>G (p.Asp1253Glu) c.3609C>G (p.Asp1203Glu) | |
| 5 | g.128335540G= | CA1581269622 | FBN2 | n.546C= n.627C= c.3762C= (p.Asp1254=) c.312C= (p.Asp104=) c.3663C= (p.Asp1221=) c.3759C= (p.Asp1253=) c.3609C= (p.Asp1203=) | |
| 5 | g.128335540G>T | CA360758082 | FBN2 | n.546C>A n.627C>A c.3762C>A (p.Asp1254Glu) c.312C>A (p.Asp104Glu) c.3663C>A (p.Asp1221Glu) c.3759C>A (p.Asp1253Glu) c.3609C>A (p.Asp1203Glu) | COSMIC COSMIC |
| 5 | g.128335541T>A | CA360758085 | FBN2 | n.545A>T n.626A>T c.3761A>T (p.Asp1254Val) c.311A>T (p.Asp104Val) c.3662A>T (p.Asp1221Val) c.3758A>T (p.Asp1253Val) c.3608A>T (p.Asp1203Val) | |
| 5 | g.128335541T>C | CA360758083 | FBN2 | n.545A>G n.626A>G c.3761A>G (p.Asp1254Gly) c.311A>G (p.Asp104Gly) c.3662A>G (p.Asp1221Gly) c.3758A>G (p.Asp1253Gly) c.3608A>G (p.Asp1203Gly) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.128335541T>G | CA360758084 | FBN2 | n.545A>C n.626A>C c.3761A>C (p.Asp1254Ala) c.311A>C (p.Asp104Ala) c.3662A>C (p.Asp1221Ala) c.3758A>C (p.Asp1253Ala) c.3608A>C (p.Asp1203Ala) | |
| 5 | g.128335541T= | CA1581269623 | FBN2 | n.545A= n.626A= c.3761A= (p.Asp1254=) c.311A= (p.Asp104=) c.3662A= (p.Asp1221=) c.3758A= (p.Asp1253=) c.3608A= (p.Asp1203=) | |
| 5 | g.128335542C>A | CA360758086 | FBN2 | n.544G>T n.625G>T c.3760G>T (p.Asp1254Tyr) c.310G>T (p.Asp104Tyr) c.3661G>T (p.Asp1221Tyr) c.3757G>T (p.Asp1253Tyr) c.3607G>T (p.Asp1203Tyr) | |
| 5 | g.128335542C= | CA1581269624 | FBN2 | n.544G= n.625G= c.3760G= (p.Asp1254=) c.310G= (p.Asp104=) c.3661G= (p.Asp1221=) c.3757G= (p.Asp1253=) c.3607G= (p.Asp1203=) | |
| 5 | g.128335542C>G | CA360758087 | FBN2 | n.544G>C n.625G>C c.3760G>C (p.Asp1254His) c.310G>C (p.Asp104His) c.3661G>C (p.Asp1221His) c.3757G>C (p.Asp1253His) c.3607G>C (p.Asp1203His) | |
| 5 | g.128335542C>T | CA3395140 | FBN2 | n.544G>A n.625G>A c.3760G>A (p.Asp1254Asn) c.310G>A (p.Asp104Asn) c.3661G>A (p.Asp1221Asn) c.3757G>A (p.Asp1253Asn) c.3607G>A (p.Asp1203Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128335543A= | CA1581269625 | FBN2 | n.543T= n.624T= c.3759T= (p.Cys1253=) c.309T= (p.Cys103=) c.3660T= (p.Cys1220=) c.3756T= (p.Cys1252=) c.3606T= (p.Cys1202=) | |
| 5 | g.128335543A>C | CA281518 | FBN2 | n.543T>G n.624T>G c.3759T>G (p.Cys1253Trp) c.309T>G (p.Cys103Trp) c.3660T>G (p.Cys1220Trp) c.3756T>G (p.Cys1252Trp) c.3606T>G (p.Cys1202Trp) | ClinVar dbSNP |
| 5 | g.128335543A>G | CA446310167 | FBN2 | n.543T>C n.624T>C c.3759T>C (p.Cys1253=) c.309T>C (p.Cys103=) c.3660T>C (p.Cys1220=) c.3756T>C (p.Cys1252=) c.3606T>C (p.Cys1202=) | |
| 5 | g.128335543A>T | CA360758088 | FBN2 | n.543T>A n.624T>A c.3759T>A (p.Cys1253Ter) c.309T>A (p.Cys103Ter) c.3660T>A (p.Cys1220Ter) c.3756T>A (p.Cys1252Ter) c.3606T>A (p.Cys1202Ter) | |
| 5 | g.128335544C>A | CA360758089 | FBN2 | n.542G>T n.623G>T c.3758G>T (p.Cys1253Phe) c.308G>T (p.Cys103Phe) c.3659G>T (p.Cys1220Phe) c.3755G>T (p.Cys1252Phe) c.3605G>T (p.Cys1202Phe) | |
| 5 | g.128335544C= | CA1581269626 | FBN2 | n.542G= n.623G= c.3758G= (p.Cys1253=) c.308G= (p.Cys103=) c.3659G= (p.Cys1220=) c.3755G= (p.Cys1252=) c.3605G= (p.Cys1202=) | |
| 5 | g.128335544C>G | CA360758090 | FBN2 | n.542G>C n.623G>C c.3758G>C (p.Cys1253Ser) c.308G>C (p.Cys103Ser) c.3659G>C (p.Cys1220Ser) c.3755G>C (p.Cys1252Ser) c.3605G>C (p.Cys1202Ser) | |
| 5 | g.128335544C>T | CA281512 | FBN2 | n.542G>A n.623G>A c.3758G>A (p.Cys1253Tyr) c.308G>A (p.Cys103Tyr) c.3659G>A (p.Cys1220Tyr) c.3755G>A (p.Cys1252Tyr) c.3605G>A (p.Cys1202Tyr) | ClinVar dbSNP |
| 5 | g.128335545A>C | CA360758091 | FBN2 | n.541T>G n.622T>G c.3757T>G (p.Cys1253Gly) c.307T>G (p.Cys103Gly) c.3658T>G (p.Cys1220Gly) c.3754T>G (p.Cys1252Gly) c.3604T>G (p.Cys1202Gly) | |
| 5 | g.128335545A>G | CA360758092 | FBN2 | n.541T>C n.622T>C c.3757T>C (p.Cys1253Arg) c.307T>C (p.Cys103Arg) c.3658T>C (p.Cys1220Arg) c.3754T>C (p.Cys1252Arg) c.3604T>C (p.Cys1202Arg) | |
| 5 | g.128335545A>T | CA360758093 | FBN2 | n.541T>A n.622T>A c.3757T>A (p.Cys1253Ser) c.307T>A (p.Cys103Ser) c.3658T>A (p.Cys1220Ser) c.3754T>A (p.Cys1252Ser) c.3604T>A (p.Cys1202Ser) | |
| 5 | g.128335546G>A | CA446310168 | FBN2 | n.540C>T n.621C>T c.3756C>T (p.Gly1252=) c.306C>T (p.Gly102=) c.3657C>T (p.Gly1219=) c.3753C>T (p.Gly1251=) c.3603C>T (p.Gly1201=) | gnomAD v4 |
| 5 | g.128335546G>C | CA446310169 | FBN2 | n.540C>G n.621C>G c.3756C>G (p.Gly1252=) c.306C>G (p.Gly102=) c.3657C>G (p.Gly1219=) c.3753C>G (p.Gly1251=) c.3603C>G (p.Gly1201=) | |
| 5 | g.128335546G>T | CA446310170 | FBN2 | n.540C>A n.621C>A c.3756C>A (p.Gly1252=) c.306C>A (p.Gly102=) c.3657C>A (p.Gly1219=) c.3753C>A (p.Gly1251=) c.3603C>A (p.Gly1201=) | |
| 5 | g.128335547C>A | CA360758094 | FBN2 | n.539G>T n.620G>T c.3755G>T (p.Gly1252Val) c.305G>T (p.Gly102Val) c.3656G>T (p.Gly1219Val) c.3752G>T (p.Gly1251Val) c.3602G>T (p.Gly1201Val) | dbSNP |
| 5 | g.128335547C= | CA1581269627 | FBN2 | n.539G= n.620G= c.3755G= (p.Gly1252=) c.305G= (p.Gly102=) c.3656G= (p.Gly1219=) c.3752G= (p.Gly1251=) c.3602G= (p.Gly1201=) | |
| 5 | g.128335547C>G | CA360758095 | FBN2 | n.539G>C n.620G>C c.3755G>C (p.Gly1252Ala) c.305G>C (p.Gly102Ala) c.3656G>C (p.Gly1219Ala) c.3752G>C (p.Gly1251Ala) c.3602G>C (p.Gly1201Ala) | |
| 5 | g.128335547C>T | CA360758096 | FBN2 | n.539G>A n.620G>A c.3755G>A (p.Gly1252Asp) c.305G>A (p.Gly102Asp) c.3656G>A (p.Gly1219Asp) c.3752G>A (p.Gly1251Asp) c.3602G>A (p.Gly1201Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128335547_128335548delinsTT | CA645546436 | FBN2 | n.538_539delinsAA n.619_620delinsAA c.3754_3755delinsAA (p.Gly1252Asn) c.304_305delinsAA (p.Gly102Asn) c.3655_3656delinsAA (p.Gly1219Asn) c.3751_3752delinsAA (p.Gly1251Asn) c.3601_3602delinsAA (p.Gly1201Asn) | COSMIC COSMIC |
| 5 | g.128335548C>A | CA360758097 | FBN2 | n.538G>T n.619G>T c.3754G>T (p.Gly1252Cys) c.304G>T (p.Gly102Cys) c.3655G>T (p.Gly1219Cys) c.3751G>T (p.Gly1251Cys) c.3601G>T (p.Gly1201Cys) | |
| 5 | g.128335548C>G | CA360758098 | FBN2 | n.538G>C n.619G>C c.3754G>C (p.Gly1252Arg) c.304G>C (p.Gly102Arg) c.3655G>C (p.Gly1219Arg) c.3751G>C (p.Gly1251Arg) c.3601G>C (p.Gly1201Arg) | |
| 5 | g.128335548C>T | CA360758099 | FBN2 | n.538G>A n.619G>A c.3754G>A (p.Gly1252Ser) c.304G>A (p.Gly102Ser) c.3655G>A (p.Gly1219Ser) c.3751G>A (p.Gly1251Ser) c.3601G>A (p.Gly1201Ser) | |
| 5 | g.128335549T>A | CA446310171 | FBN2 | n.537A>T n.618A>T c.3753A>T (p.Gly1251=) c.303A>T (p.Gly101=) c.3654A>T (p.Gly1218=) c.3750A>T (p.Gly1250=) c.3600A>T (p.Gly1200=) | |
| 5 | g.128335549T>C | CA446310173 | FBN2 | n.537A>G n.618A>G c.3753A>G (p.Gly1251=) c.303A>G (p.Gly101=) c.3654A>G (p.Gly1218=) c.3750A>G (p.Gly1250=) c.3600A>G (p.Gly1200=) | |
| 5 | g.128335549T>G | CA446310172 | FBN2 | n.537A>C n.618A>C c.3753A>C (p.Gly1251=) c.303A>C (p.Gly101=) c.3654A>C (p.Gly1218=) c.3750A>C (p.Gly1250=) c.3600A>C (p.Gly1200=) | |
| 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) |