| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 5 | g.128335563T>A | CA360758131 | FBN2 | n.523A>T n.604A>T c.3739A>T (p.Met1247Leu) c.289A>T (p.Met97Leu) c.3640A>T (p.Met1214Leu) c.3736A>T (p.Met1246Leu) c.3586A>T (p.Met1196Leu) | |
| 5 | g.128335563T>C | CA360758132 | FBN2 | n.523A>G n.604A>G c.3739A>G (p.Met1247Val) c.289A>G (p.Met97Val) c.3640A>G (p.Met1214Val) c.3736A>G (p.Met1246Val) c.3586A>G (p.Met1196Val) | dbSNP |
| 5 | g.128335563T>G | CA360758133 | FBN2 | n.523A>C n.604A>C c.3739A>C (p.Met1247Leu) c.289A>C (p.Met97Leu) c.3640A>C (p.Met1214Leu) c.3736A>C (p.Met1246Leu) c.3586A>C (p.Met1196Leu) | |
| 5 | g.128335563T= | CA1581269635 | FBN2 | n.523A= n.604A= c.3739A= (p.Met1247=) c.289A= (p.Met97=) c.3640A= (p.Met1214=) c.3736A= (p.Met1246=) c.3586A= (p.Met1196=) | |
| 5 | g.128335564A>C | CA360758134 | FBN2 | n.522T>G n.603T>G c.3738T>G (p.Cys1246Trp) c.288T>G (p.Cys96Trp) c.3639T>G (p.Cys1213Trp) c.3735T>G (p.Cys1245Trp) c.3585T>G (p.Cys1195Trp) | |
| 5 | g.128335564A>G | CA446310178 | FBN2 | n.522T>C n.603T>C c.3738T>C (p.Cys1246=) c.288T>C (p.Cys96=) c.3639T>C (p.Cys1213=) c.3735T>C (p.Cys1245=) c.3585T>C (p.Cys1195=) | gnomAD v4 |
| 5 | g.128335564A>T | CA360758135 | FBN2 | n.522T>A n.603T>A c.3738T>A (p.Cys1246Ter) c.288T>A (p.Cys96Ter) c.3639T>A (p.Cys1213Ter) c.3735T>A (p.Cys1245Ter) c.3585T>A (p.Cys1195Ter) | |
| 5 | g.128335565C>A | CA360758136 | FBN2 | n.521G>T n.602G>T c.3737G>T (p.Cys1246Phe) c.287G>T (p.Cys96Phe) c.3638G>T (p.Cys1213Phe) c.3734G>T (p.Cys1245Phe) c.3584G>T (p.Cys1195Phe) | |
| 5 | g.128335565C>G | CA360758137 | FBN2 | n.521G>C n.602G>C c.3737G>C (p.Cys1246Ser) c.287G>C (p.Cys96Ser) c.3638G>C (p.Cys1213Ser) c.3734G>C (p.Cys1245Ser) c.3584G>C (p.Cys1195Ser) | |
| 5 | g.128335565C>T | CA360758138 | FBN2 | n.521G>A n.602G>A c.3737G>A (p.Cys1246Tyr) c.287G>A (p.Cys96Tyr) c.3638G>A (p.Cys1213Tyr) c.3734G>A (p.Cys1245Tyr) c.3584G>A (p.Cys1195Tyr) | ClinVar |
| 5 | g.128335566A= | CA1581269636 | FBN2 | n.520T= n.601T= c.3736T= (p.Cys1246=) c.286T= (p.Cys96=) c.3637T= (p.Cys1213=) c.3733T= (p.Cys1245=) c.3583T= (p.Cys1195=) | |
| 5 | g.128335566A>C | CA360758139 | FBN2 | n.520T>G n.601T>G c.3736T>G (p.Cys1246Gly) c.286T>G (p.Cys96Gly) c.3637T>G (p.Cys1213Gly) c.3733T>G (p.Cys1245Gly) c.3583T>G (p.Cys1195Gly) | ClinVar dbSNP |
| 5 | g.128335566A>G | CA360758140 | FBN2 | n.520T>C n.601T>C c.3736T>C (p.Cys1246Arg) c.286T>C (p.Cys96Arg) c.3637T>C (p.Cys1213Arg) c.3733T>C (p.Cys1245Arg) c.3583T>C (p.Cys1195Arg) | ClinVar dbSNP |
| 5 | g.128335566A>T | CA360758141 | FBN2 | n.520T>A n.601T>A c.3736T>A (p.Cys1246Ser) c.286T>A (p.Cys96Ser) c.3637T>A (p.Cys1213Ser) c.3733T>A (p.Cys1245Ser) c.3583T>A (p.Cys1195Ser) | |
| 5 | g.128335567T>A | CA360758142 | FBN2 | n.519A>T n.600A>T c.3735A>T (p.Glu1245Asp) c.285A>T (p.Glu95Asp) c.3636A>T (p.Glu1212Asp) c.3732A>T (p.Glu1244Asp) c.3582A>T (p.Glu1194Asp) | |
| 5 | g.128335567T>C | CA446310179 | FBN2 | n.519A>G n.600A>G c.3735A>G (p.Glu1245=) c.285A>G (p.Glu95=) c.3636A>G (p.Glu1212=) c.3732A>G (p.Glu1244=) c.3582A>G (p.Glu1194=) | |
| 5 | g.128335567T>G | CA360758143 | FBN2 | n.519A>C n.600A>C c.3735A>C (p.Glu1245Asp) c.285A>C (p.Glu95Asp) c.3636A>C (p.Glu1212Asp) c.3732A>C (p.Glu1244Asp) c.3582A>C (p.Glu1194Asp) | |
| 5 | g.128335568T>A | CA360758144 | FBN2 | n.518A>T n.599A>T c.3734A>T (p.Glu1245Val) c.284A>T (p.Glu95Val) c.3635A>T (p.Glu1212Val) c.3731A>T (p.Glu1244Val) c.3581A>T (p.Glu1194Val) | |
| 5 | g.128335568T>C | CA360758145 | FBN2 | n.518A>G n.599A>G c.3734A>G (p.Glu1245Gly) c.284A>G (p.Glu95Gly) c.3635A>G (p.Glu1212Gly) c.3731A>G (p.Glu1244Gly) c.3581A>G (p.Glu1194Gly) | |
| 5 | g.128335568T>G | CA360758146 | FBN2 | n.518A>C n.599A>C c.3734A>C (p.Glu1245Ala) c.284A>C (p.Glu95Ala) c.3635A>C (p.Glu1212Ala) c.3731A>C (p.Glu1244Ala) c.3581A>C (p.Glu1194Ala) | |
| 5 | g.128335569C>A | CA360758149 | FBN2 | n.517G>T n.598G>T c.3733G>T (p.Glu1245Ter) c.283G>T (p.Glu95Ter) c.3634G>T (p.Glu1212Ter) c.3730G>T (p.Glu1244Ter) c.3580G>T (p.Glu1194Ter) | |
| 5 | g.128335569C>G | CA360758148 | FBN2 | n.517G>C n.598G>C c.3733G>C (p.Glu1245Gln) c.283G>C (p.Glu95Gln) c.3634G>C (p.Glu1212Gln) c.3730G>C (p.Glu1244Gln) c.3580G>C (p.Glu1194Gln) | |
| 5 | g.128335569C>T | CA360758147 | FBN2 | n.517G>A n.598G>A c.3733G>A (p.Glu1245Lys) c.283G>A (p.Glu95Lys) c.3634G>A (p.Glu1212Lys) c.3730G>A (p.Glu1244Lys) c.3580G>A (p.Glu1194Lys) | |
| 5 | g.128335570A>C | CA360758150 | FBN2 | n.516T>G n.597T>G c.3732T>G (p.Asp1244Glu) c.282T>G (p.Asp94Glu) c.3633T>G (p.Asp1211Glu) c.3729T>G (p.Asp1243Glu) c.3579T>G (p.Asp1193Glu) | |
| 5 | g.128335570A>G | CA446310181 | FBN2 | n.516T>C n.597T>C c.3732T>C (p.Asp1244=) c.282T>C (p.Asp94=) c.3633T>C (p.Asp1211=) c.3729T>C (p.Asp1243=) c.3579T>C (p.Asp1193=) | |
| 5 | g.128335570A>T | CA360758151 | FBN2 | n.516T>A n.597T>A c.3732T>A (p.Asp1244Glu) c.282T>A (p.Asp94Glu) c.3633T>A (p.Asp1211Glu) c.3729T>A (p.Asp1243Glu) c.3579T>A (p.Asp1193Glu) | |
| 5 | g.128335571T>A | CA360758152 | FBN2 | n.515A>T n.596A>T c.3731A>T (p.Asp1244Val) c.281A>T (p.Asp94Val) c.3632A>T (p.Asp1211Val) c.3728A>T (p.Asp1243Val) c.3578A>T (p.Asp1193Val) | |
| 5 | g.128335571T>C | CA360758153 | FBN2 | n.515A>G n.596A>G c.3731A>G (p.Asp1244Gly) c.281A>G (p.Asp94Gly) c.3632A>G (p.Asp1211Gly) c.3728A>G (p.Asp1243Gly) c.3578A>G (p.Asp1193Gly) | |
| 5 | g.128335571T>G | CA360758154 | FBN2 | n.515A>C n.596A>C c.3731A>C (p.Asp1244Ala) c.281A>C (p.Asp94Ala) c.3632A>C (p.Asp1211Ala) c.3728A>C (p.Asp1243Ala) c.3578A>C (p.Asp1193Ala) | |
| 5 | g.128335572C>A | CA360758155 | FBN2 | n.514G>T n.595G>T c.3730G>T (p.Asp1244Tyr) c.280G>T (p.Asp94Tyr) c.3631G>T (p.Asp1211Tyr) c.3727G>T (p.Asp1243Tyr) c.3577G>T (p.Asp1193Tyr) | |
| 5 | g.128335572C= | CA1581269637 | FBN2 | n.514G= n.595G= c.3730G= (p.Asp1244=) c.280G= (p.Asp94=) c.3631G= (p.Asp1211=) c.3727G= (p.Asp1243=) c.3577G= (p.Asp1193=) | |
| 5 | g.128335572C>G | CA360758156 | FBN2 | n.514G>C n.595G>C c.3730G>C (p.Asp1244His) c.280G>C (p.Asp94His) c.3631G>C (p.Asp1211His) c.3727G>C (p.Asp1243His) c.3577G>C (p.Asp1193His) | dbSNP gnomAD v4 |
| 5 | g.128335572C>T | CA360758157 | FBN2 | n.514G>A n.595G>A c.3730G>A (p.Asp1244Asn) c.280G>A (p.Asp94Asn) c.3631G>A (p.Asp1211Asn) c.3727G>A (p.Asp1243Asn) c.3577G>A (p.Asp1193Asn) | |
| 5 | g.128335573A>C | CA360758158 | FBN2 | n.513T>G n.594T>G c.3729T>G (p.Ile1243Met) c.279T>G (p.Ile93Met) c.3630T>G (p.Ile1210Met) c.3726T>G (p.Ile1242Met) c.3576T>G (p.Ile1192Met) | |
| 5 | g.128335573A>G | CA446310185 | FBN2 | n.513T>C n.594T>C c.3729T>C (p.Ile1243=) c.279T>C (p.Ile93=) c.3630T>C (p.Ile1210=) c.3726T>C (p.Ile1242=) c.3576T>C (p.Ile1192=) | |
| 5 | g.128335573A>T | CA446310187 | FBN2 | n.513T>A n.594T>A c.3729T>A (p.Ile1243=) c.279T>A (p.Ile93=) c.3630T>A (p.Ile1210=) c.3726T>A (p.Ile1242=) c.3576T>A (p.Ile1192=) | |
| 5 | g.128335574A= | CA1581269638 | FBN2 | n.512T= n.593T= c.3728T= (p.Ile1243=) c.278T= (p.Ile93=) c.3629T= (p.Ile1210=) c.3725T= (p.Ile1242=) c.3575T= (p.Ile1192=) | |
| 5 | g.128335574A>C | CA360758159 | FBN2 | n.512T>G n.593T>G c.3728T>G (p.Ile1243Ser) c.278T>G (p.Ile93Ser) c.3629T>G (p.Ile1210Ser) c.3725T>G (p.Ile1242Ser) c.3575T>G (p.Ile1192Ser) | |
| 5 | g.128335574A>G | CA360758160 | FBN2 | n.512T>C n.593T>C c.3728T>C (p.Ile1243Thr) c.278T>C (p.Ile93Thr) c.3629T>C (p.Ile1210Thr) c.3725T>C (p.Ile1242Thr) c.3575T>C (p.Ile1192Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.128335574A>T | CA360758161 | FBN2 | n.512T>A n.593T>A c.3728T>A (p.Ile1243Asn) c.278T>A (p.Ile93Asn) c.3629T>A (p.Ile1210Asn) c.3725T>A (p.Ile1242Asn) c.3575T>A (p.Ile1192Asn) | |
| 5 | g.128335575T>A | CA360758163 | FBN2 | n.511A>T n.592A>T c.3727A>T (p.Ile1243Phe) c.277A>T (p.Ile93Phe) c.3628A>T (p.Ile1210Phe) c.3724A>T (p.Ile1242Phe) c.3574A>T (p.Ile1192Phe) | |
| 5 | g.128335575T>C | CA360758164 | FBN2 | n.511A>G n.592A>G c.3727A>G (p.Ile1243Val) c.277A>G (p.Ile93Val) c.3628A>G (p.Ile1210Val) c.3724A>G (p.Ile1242Val) c.3574A>G (p.Ile1192Val) | ClinVar gnomAD v4 |
| 5 | g.128335575T>G | CA360758162 | FBN2 | n.511A>C n.592A>C c.3727A>C (p.Ile1243Leu) c.277A>C (p.Ile93Leu) c.3628A>C (p.Ile1210Leu) c.3724A>C (p.Ile1242Leu) c.3574A>C (p.Ile1192Leu) | |
| 5 | g.128335576A>C | CA360758166 | FBN2 | n.510T>G n.591T>G c.3726T>G (p.Asp1242Glu) c.276T>G (p.Asp92Glu) c.3627T>G (p.Asp1209Glu) c.3723T>G (p.Asp1241Glu) c.3573T>G (p.Asp1191Glu) | |
| 5 | g.128335576A>G | CA446310190 | FBN2 | n.510T>C n.591T>C c.3726T>C (p.Asp1242=) c.276T>C (p.Asp92=) c.3627T>C (p.Asp1209=) c.3723T>C (p.Asp1241=) c.3573T>C (p.Asp1191=) | |
| 5 | g.128335576A>T | CA360758165 | FBN2 | n.510T>A n.591T>A c.3726T>A (p.Asp1242Glu) c.276T>A (p.Asp92Glu) c.3627T>A (p.Asp1209Glu) c.3723T>A (p.Asp1241Glu) c.3573T>A (p.Asp1191Glu) | |
| 5 | g.128335577T>A | CA360758167 | FBN2 | n.509A>T n.590A>T c.3725A>T (p.Asp1242Val) c.275A>T (p.Asp92Val) c.3626A>T (p.Asp1209Val) c.3722A>T (p.Asp1241Val) c.3572A>T (p.Asp1191Val) | |
| 5 | g.128335577T>C | CA360758168 | FBN2 | n.509A>G n.590A>G c.3725A>G (p.Asp1242Gly) c.275A>G (p.Asp92Gly) c.3626A>G (p.Asp1209Gly) c.3722A>G (p.Asp1241Gly) c.3572A>G (p.Asp1191Gly) | |
| 5 | g.128335577T>G | CA360758169 | FBN2 | n.509A>C n.590A>C c.3725A>C (p.Asp1242Ala) c.275A>C (p.Asp92Ala) c.3626A>C (p.Asp1209Ala) c.3722A>C (p.Asp1241Ala) c.3572A>C (p.Asp1191Ala) | |
| 5 | g.128335578C>A | CA360758170 | FBN2 | n.509-1G>T n.590-1G>T c.3725-1G>T (n.3725-1G>T) c.275-1G>T (n.275-1G>T) c.3626-1G>T (n.3626-1G>T) c.3722-1G>T (n.3722-1G>T) c.3572-1G>T (n.3572-1G>T) | |
| 5 | g.128335578C>G | CA360758171 | FBN2 | n.509-1G>C n.590-1G>C c.3725-1G>C (n.3725-1G>C) c.275-1G>C (n.275-1G>C) c.3626-1G>C (n.3626-1G>C) c.3722-1G>C (n.3722-1G>C) c.3572-1G>C (n.3572-1G>C) | |
| 5 | g.128335578C>T | CA360758172 | FBN2 | n.509-1G>A n.590-1G>A c.3725-1G>A (n.3725-1G>A) c.275-1G>A (n.275-1G>A) c.3626-1G>A (n.3626-1G>A) c.3722-1G>A (n.3722-1G>A) c.3572-1G>A (n.3572-1G>A) | |
| 5 | g.128335578_128335579delinsCT | CA1581269639 | FBN2 | n.509-2_509-1delinsAG n.590-2_590-1delinsAG c.3725-2_3725-1delinsAG (n.3725-2_3725-1delinsAG) c.275-2_275-1delinsAG (n.275-2_275-1delinsAG) c.3626-2_3626-1delinsAG (n.3626-2_3626-1delinsAG) c.3722-2_3722-1delinsAG (n.3722-2_3722-1delinsAG) c.3572-2_3572-1delinsAG (n.3572-2_3572-1delinsAG) | |
| 5 | g.128335579del | CA658796624 | FBN2 | n.509-2del n.590-2del c.3725-2del (n.3725-2del) c.275-2del (n.275-2del) c.3626-2del (n.3626-2del) c.3722-2del (n.3722-2del) c.3572-2del (n.3572-2del) | ClinVar dbSNP |
| 5 | g.128335579T>A | CA360758173 | FBN2 | n.509-2A>T n.590-2A>T c.3725-2A>T (n.3725-2A>T) c.275-2A>T (n.275-2A>T) c.3626-2A>T (n.3626-2A>T) c.3722-2A>T (n.3722-2A>T) c.3572-2A>T (n.3572-2A>T) | |
| 5 | g.128335579T>C | CA360758174 | FBN2 | n.509-2A>G n.590-2A>G c.3725-2A>G (n.3725-2A>G) c.275-2A>G (n.275-2A>G) c.3626-2A>G (n.3626-2A>G) c.3722-2A>G (n.3722-2A>G) c.3572-2A>G (n.3572-2A>G) | |
| 5 | g.128335579T>G | CA360758175 | FBN2 | n.509-2A>C n.590-2A>C c.3725-2A>C (n.3725-2A>C) c.275-2A>C (n.275-2A>C) c.3626-2A>C (n.3626-2A>C) c.3722-2A>C (n.3722-2A>C) c.3572-2A>C (n.3572-2A>C) | |
| 5 | g.128335580G>A | CA2739275048 | FBN2 | n.509-3C>T n.590-3C>T c.3725-3C>T (n.3725-3C>T) c.275-3C>T (n.275-3C>T) c.3626-3C>T (n.3626-3C>T) c.3722-3C>T (n.3722-3C>T) c.3572-3C>T (n.3572-3C>T) | ClinVar |
| 5 | g.128335580G>C | CA2695205118 | FBN2 | n.509-3C>G n.590-3C>G c.3725-3C>G (n.3725-3C>G) c.275-3C>G (n.275-3C>G) c.3626-3C>G (n.3626-3C>G) c.3722-3C>G (n.3722-3C>G) c.3572-3C>G (n.3572-3C>G) | |
| 5 | g.128335583A>G | CA2768335867 | FBN2 | n.509-6T>C n.590-6T>C c.3725-6T>C (n.3725-6T>C) c.275-6T>C (n.275-6T>C) c.3626-6T>C (n.3626-6T>C) c.3722-6T>C (n.3722-6T>C) c.3572-6T>C (n.3572-6T>C) | |
| 5 | g.128335587C>T | CA2675117129 | FBN2 | n.509-10G>A n.590-10G>A c.3725-10G>A (n.3725-10G>A) c.275-10G>A (n.275-10G>A) c.3626-10G>A (n.3626-10G>A) c.3722-10G>A (n.3722-10G>A) c.3572-10G>A (n.3572-10G>A) | gnomAD v4 |
| 5 | g.128335588A= | CA1581269640 | FBN2 | n.509-11T= n.590-11T= c.3725-11T= (n.3725-11T=) c.275-11T= (n.275-11T=) c.3626-11T= (n.3626-11T=) c.3722-11T= (n.3722-11T=) c.3572-11T= (n.3572-11T=) | |
| 5 | g.128335588A>G | CA562715456 | FBN2 | n.509-11T>C n.590-11T>C c.3725-11T>C (n.3725-11T>C) c.275-11T>C (n.275-11T>C) c.3626-11T>C (n.3626-11T>C) c.3722-11T>C (n.3722-11T>C) c.3572-11T>C (n.3572-11T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128335589G>A | CA1081364708 | FBN2 | n.509-12C>T n.590-12C>T c.3725-12C>T (n.3725-12C>T) c.275-12C>T (n.275-12C>T) c.3626-12C>T (n.3626-12C>T) c.3722-12C>T (n.3722-12C>T) c.3572-12C>T (n.3572-12C>T) | gnomAD v3 gnomAD v4 |
| 5 | g.128335589G>T | CA2675117130 | FBN2 | n.509-12C>A n.590-12C>A c.3725-12C>A (n.3725-12C>A) c.275-12C>A (n.275-12C>A) c.3626-12C>A (n.3626-12C>A) c.3722-12C>A (n.3722-12C>A) c.3572-12C>A (n.3572-12C>A) | gnomAD v4 |
| 5 | g.128335591A>C | CA2695205119 | FBN2 | n.509-14T>G n.590-14T>G c.3725-14T>G (n.3725-14T>G) c.275-14T>G (n.275-14T>G) c.3626-14T>G (n.3626-14T>G) c.3722-14T>G (n.3722-14T>G) c.3572-14T>G (n.3572-14T>G) | |
| 5 | g.128335592T>A | CA446310196 | FBN2 | n.509-15A>T n.590-15A>T c.3725-15A>T (n.3725-15A>T) c.275-15A>T (n.275-15A>T) c.3626-15A>T (n.3626-15A>T) c.3722-15A>T (n.3722-15A>T) c.3572-15A>T (n.3572-15A>T) | |
| 5 | g.128335592T>C | CA281515 | FBN2 | n.509-15A>G n.590-15A>G c.3725-15A>G (n.3725-15A>G) c.275-15A>G (n.275-15A>G) c.3626-15A>G (n.3626-15A>G) c.3722-15A>G (n.3722-15A>G) c.3572-15A>G (n.3572-15A>G) | ClinVar dbSNP |
| 5 | g.128335592T>G | CA446310194 | FBN2 | n.509-15A>C n.590-15A>C c.3725-15A>C (n.3725-15A>C) c.275-15A>C (n.275-15A>C) c.3626-15A>C (n.3626-15A>C) c.3722-15A>C (n.3722-15A>C) c.3572-15A>C (n.3572-15A>C) | |
| 5 | g.128335592T= | CA1581269641 | FBN2 | n.509-15A= n.590-15A= c.3725-15A= (n.3725-15A=) c.275-15A= (n.275-15A=) c.3626-15A= (n.3626-15A=) c.3722-15A= (n.3722-15A=) c.3572-15A= (n.3572-15A=) | |
| 5 | g.128335593T>G | CA3395145 | FBN2 | n.509-16A>C n.590-16A>C c.3725-16A>C (n.3725-16A>C) c.275-16A>C (n.275-16A>C) c.3626-16A>C (n.3626-16A>C) c.3722-16A>C (n.3722-16A>C) c.3572-16A>C (n.3572-16A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128335593T= | CA1581269642 | FBN2 | n.509-16A= n.590-16A= c.3725-16A= (n.3725-16A=) c.275-16A= (n.275-16A=) c.3626-16A= (n.3626-16A=) c.3722-16A= (n.3722-16A=) c.3572-16A= (n.3572-16A=) | |
| 5 | g.128335595C>A | CA2740094073 | FBN2 | n.509-18G>T n.590-18G>T c.3725-18G>T (n.3725-18G>T) c.275-18G>T (n.275-18G>T) c.3626-18G>T (n.3626-18G>T) c.3722-18G>T (n.3722-18G>T) c.3572-18G>T (n.3572-18G>T) | ClinVar |
| 5 | g.128335595C= | CA1581269643 | FBN2 | n.509-18G= n.590-18G= c.3725-18G= (n.3725-18G=) c.275-18G= (n.275-18G=) c.3626-18G= (n.3626-18G=) c.3722-18G= (n.3722-18G=) c.3572-18G= (n.3572-18G=) | |
| 5 | g.128335595C>G | CA803637235 | FBN2 | n.509-18G>C n.590-18G>C c.3725-18G>C (n.3725-18G>C) c.275-18G>C (n.275-18G>C) c.3626-18G>C (n.3626-18G>C) c.3722-18G>C (n.3722-18G>C) c.3572-18G>C (n.3572-18G>C) | dbSNP |
| 5 | g.128335595C>T | CA2578444115 | FBN2 | n.509-18G>A n.590-18G>A c.3725-18G>A (n.3725-18G>A) c.275-18G>A (n.275-18G>A) c.3626-18G>A (n.3626-18G>A) c.3722-18G>A (n.3722-18G>A) c.3572-18G>A (n.3572-18G>A) | |
| 5 | g.128335596A= | CA1581269644 | FBN2 | n.509-19T= n.590-19T= c.3725-19T= (n.3725-19T=) c.275-19T= (n.275-19T=) c.3626-19T= (n.3626-19T=) c.3722-19T= (n.3722-19T=) c.3572-19T= (n.3572-19T=) | |
| 5 | g.128335596A>G | CA1581269645 | FBN2 | n.509-19T>C n.590-19T>C c.3725-19T>C (n.3725-19T>C) c.275-19T>C (n.275-19T>C) c.3626-19T>C (n.3626-19T>C) c.3722-19T>C (n.3722-19T>C) c.3572-19T>C (n.3572-19T>C) | dbSNP gnomAD v4 |
| 5 | g.128335599C>A | CA803637238 | FBN2 | n.509-22G>T n.590-22G>T c.3725-22G>T (n.3725-22G>T) c.275-22G>T (n.275-22G>T) c.3626-22G>T (n.3626-22G>T) c.3722-22G>T (n.3722-22G>T) c.3572-22G>T (n.3572-22G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128335599C= | CA1581269646 | FBN2 | n.509-22G= n.590-22G= c.3725-22G= (n.3725-22G=) c.275-22G= (n.275-22G=) c.3626-22G= (n.3626-22G=) c.3722-22G= (n.3722-22G=) c.3572-22G= (n.3572-22G=) | |
| 5 | g.128335600A= | CA1581269647 | FBN2 | n.509-23T= n.590-23T= c.3725-23T= (n.3725-23T=) c.275-23T= (n.275-23T=) c.3626-23T= (n.3626-23T=) c.3722-23T= (n.3722-23T=) c.3572-23T= (n.3572-23T=) | |
| 5 | g.128335600A>C | CA562715459 | FBN2 | n.509-23T>G n.590-23T>G c.3725-23T>G (n.3725-23T>G) c.275-23T>G (n.275-23T>G) c.3626-23T>G (n.3626-23T>G) c.3722-23T>G (n.3722-23T>G) c.3572-23T>G (n.3572-23T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128335602A>G | CA2675117131 | FBN2 | n.509-25T>C n.590-25T>C c.3725-25T>C (n.3725-25T>C) c.275-25T>C (n.275-25T>C) c.3626-25T>C (n.3626-25T>C) c.3722-25T>C (n.3722-25T>C) c.3572-25T>C (n.3572-25T>C) | gnomAD v4 |
| 5 | g.128335603T>C | CA562715460 | FBN2 | n.509-26A>G n.590-26A>G c.3725-26A>G (n.3725-26A>G) c.275-26A>G (n.275-26A>G) c.3626-26A>G (n.3626-26A>G) c.3722-26A>G (n.3722-26A>G) c.3572-26A>G (n.3572-26A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335603T= | CA1581269648 | FBN2 | n.509-26A= n.590-26A= c.3725-26A= (n.3725-26A=) c.275-26A= (n.275-26A=) c.3626-26A= (n.3626-26A=) c.3722-26A= (n.3722-26A=) c.3572-26A= (n.3572-26A=) | |
| 5 | g.128335605G>A | CA2675117132 | FBN2 | n.509-28C>T n.590-28C>T c.3725-28C>T (n.3725-28C>T) c.275-28C>T (n.275-28C>T) c.3626-28C>T (n.3626-28C>T) c.3722-28C>T (n.3722-28C>T) c.3572-28C>T (n.3572-28C>T) | gnomAD v4 |
| 5 | g.128335606T>C | CA2675117133 | FBN2 | n.509-29A>G n.590-29A>G c.3725-29A>G (n.3725-29A>G) c.275-29A>G (n.275-29A>G) c.3626-29A>G (n.3626-29A>G) c.3722-29A>G (n.3722-29A>G) c.3572-29A>G (n.3572-29A>G) | gnomAD v4 |
| 5 | g.128335607C= | CA1581269649 | FBN2 | n.509-30G= n.590-30G= c.3725-30G= (n.3725-30G=) c.275-30G= (n.275-30G=) c.3626-30G= (n.3626-30G=) c.3722-30G= (n.3722-30G=) c.3572-30G= (n.3572-30G=) | |
| 5 | g.128335607C>T | CA127013884 | FBN2 | n.509-30G>A n.590-30G>A c.3725-30G>A (n.3725-30G>A) c.275-30G>A (n.275-30G>A) c.3626-30G>A (n.3626-30G>A) c.3722-30G>A (n.3722-30G>A) c.3572-30G>A (n.3572-30G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335609G>A | CA1581269651 | FBN2 | n.509-32C>T n.590-32C>T c.3725-32C>T (n.3725-32C>T) c.275-32C>T (n.275-32C>T) c.3626-32C>T (n.3626-32C>T) c.3722-32C>T (n.3722-32C>T) c.3572-32C>T (n.3572-32C>T) | dbSNP gnomAD v4 |
| 5 | g.128335609G= | CA1581269650 | FBN2 | n.509-32C= n.590-32C= c.3725-32C= (n.3725-32C=) c.275-32C= (n.275-32C=) c.3626-32C= (n.3626-32C=) c.3722-32C= (n.3722-32C=) c.3572-32C= (n.3572-32C=) | |
| 5 | g.128335610G>C | CA1081364718 | FBN2 | n.509-33C>G n.590-33C>G c.3725-33C>G (n.3725-33C>G) c.275-33C>G (n.275-33C>G) c.3626-33C>G (n.3626-33C>G) c.3722-33C>G (n.3722-33C>G) c.3572-33C>G (n.3572-33C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128335610G= | CA1581269652 | FBN2 | n.509-33C= n.590-33C= c.3725-33C= (n.3725-33C=) c.275-33C= (n.275-33C=) c.3626-33C= (n.3626-33C=) c.3722-33C= (n.3722-33C=) c.3572-33C= (n.3572-33C=) | |
| 5 | g.128335611T>C | CA2675117134 | FBN2 | n.509-34A>G n.590-34A>G c.3725-34A>G (n.3725-34A>G) c.275-34A>G (n.275-34A>G) c.3626-34A>G (n.3626-34A>G) c.3722-34A>G (n.3722-34A>G) c.3572-34A>G (n.3572-34A>G) | gnomAD v4 |