| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128338023A>C | CA360759207 | FBN2 | n.356T>G n.437T>G c.3572T>G (p.Leu1191Arg) c.122T>G (p.Leu41Arg) c.3473T>G (p.Leu1158Arg) c.3569T>G (p.Leu1190Arg) c.3419T>G (p.Leu1140Arg) | |
| 5 | g.128338023A>G | CA360759215 | FBN2 | n.356T>C n.437T>C c.3572T>C (p.Leu1191Pro) c.122T>C (p.Leu41Pro) c.3473T>C (p.Leu1158Pro) c.3569T>C (p.Leu1190Pro) c.3419T>C (p.Leu1140Pro) | |
| 5 | g.128338023A>T | CA360759213 | FBN2 | n.356T>A n.437T>A c.3572T>A (p.Leu1191Gln) c.122T>A (p.Leu41Gln) c.3473T>A (p.Leu1158Gln) c.3569T>A (p.Leu1190Gln) c.3419T>A (p.Leu1140Gln) | |
| 5 | g.128338024G>A | CA446310566 | FBN2 | n.355C>T n.436C>T c.3571C>T (p.Leu1191=) c.121C>T (p.Leu41=) c.3472C>T (p.Leu1158=) c.3568C>T (p.Leu1190=) c.3418C>T (p.Leu1140=) | |
| 5 | g.128338024G>C | CA360759218 | FBN2 | n.355C>G n.436C>G c.3571C>G (p.Leu1191Val) c.121C>G (p.Leu41Val) c.3472C>G (p.Leu1158Val) c.3568C>G (p.Leu1190Val) c.3418C>G (p.Leu1140Val) | |
| 5 | g.128338024G>T | CA360759221 | FBN2 | n.355C>A n.436C>A c.3571C>A (p.Leu1191Met) c.121C>A (p.Leu41Met) c.3472C>A (p.Leu1158Met) c.3568C>A (p.Leu1190Met) c.3418C>A (p.Leu1140Met) | |
| 5 | g.128338025C>A | CA360759223 | FBN2 | n.354G>T n.435G>T c.3570G>T (p.Glu1190Asp) c.120G>T (p.Glu40Asp) c.3471G>T (p.Glu1157Asp) c.3567G>T (p.Glu1189Asp) c.3417G>T (p.Glu1139Asp) | |
| 5 | g.128338025C>G | CA360759228 | FBN2 | n.354G>C n.435G>C c.3570G>C (p.Glu1190Asp) c.120G>C (p.Glu40Asp) c.3471G>C (p.Glu1157Asp) c.3567G>C (p.Glu1189Asp) c.3417G>C (p.Glu1139Asp) | |
| 5 | g.128338025C>T | CA446310570 | FBN2 | n.354G>A n.435G>A c.3570G>A (p.Glu1190=) c.120G>A (p.Glu40=) c.3471G>A (p.Glu1157=) c.3567G>A (p.Glu1189=) c.3417G>A (p.Glu1139=) | ClinVar dbSNP |
| 5 | g.128338026T>A | CA360759236 | FBN2 | n.353A>T n.434A>T c.3569A>T (p.Glu1190Val) c.119A>T (p.Glu40Val) c.3470A>T (p.Glu1157Val) c.3566A>T (p.Glu1189Val) c.3416A>T (p.Glu1139Val) | |
| 5 | g.128338026T>C | CA360759234 | FBN2 | n.353A>G n.434A>G c.3569A>G (p.Glu1190Gly) c.119A>G (p.Glu40Gly) c.3470A>G (p.Glu1157Gly) c.3566A>G (p.Glu1189Gly) c.3416A>G (p.Glu1139Gly) | |
| 5 | g.128338026T>G | CA360759231 | FBN2 | n.353A>C n.434A>C c.3569A>C (p.Glu1190Ala) c.119A>C (p.Glu40Ala) c.3470A>C (p.Glu1157Ala) c.3566A>C (p.Glu1189Ala) c.3416A>C (p.Glu1139Ala) | |
| 5 | g.128338027C>A | CA360759240 | FBN2 | n.352G>T n.433G>T c.3568G>T (p.Glu1190Ter) c.118G>T (p.Glu40Ter) c.3469G>T (p.Glu1157Ter) c.3565G>T (p.Glu1189Ter) c.3415G>T (p.Glu1139Ter) | |
| 5 | g.128338027C= | CA1581270727 | FBN2 | n.352G= n.433G= c.3568G= (p.Glu1190=) c.118G= (p.Glu40=) c.3469G= (p.Glu1157=) c.3565G= (p.Glu1189=) c.3415G= (p.Glu1139=) | |
| 5 | g.128338027C>G | CA360759243 | FBN2 | n.352G>C n.433G>C c.3568G>C (p.Glu1190Gln) c.118G>C (p.Glu40Gln) c.3469G>C (p.Glu1157Gln) c.3565G>C (p.Glu1189Gln) c.3415G>C (p.Glu1139Gln) | |
| 5 | g.128338027C>T | CA3395200 | FBN2 | n.352G>A n.433G>A c.3568G>A (p.Glu1190Lys) c.118G>A (p.Glu40Lys) c.3469G>A (p.Glu1157Lys) c.3565G>A (p.Glu1189Lys) c.3415G>A (p.Glu1139Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128338028G>A | CA127014880 | FBN2 | n.351C>T n.432C>T c.3567C>T (p.His1189=) c.117C>T (p.His39=) c.3468C>T (p.His1156=) c.3564C>T (p.His1188=) c.3414C>T (p.His1138=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128338028G>C | CA360759246 | FBN2 | n.351C>G n.432C>G c.3567C>G (p.His1189Gln) c.117C>G (p.His39Gln) c.3468C>G (p.His1156Gln) c.3564C>G (p.His1188Gln) c.3414C>G (p.His1138Gln) | gnomAD v4 |
| 5 | g.128338028G= | CA1581270728 | FBN2 | n.351C= n.432C= c.3567C= (p.His1189=) c.117C= (p.His39=) c.3468C= (p.His1156=) c.3564C= (p.His1188=) c.3414C= (p.His1138=) | |
| 5 | g.128338028G>T | CA360759248 | FBN2 | n.351C>A n.432C>A c.3567C>A (p.His1189Gln) c.117C>A (p.His39Gln) c.3468C>A (p.His1156Gln) c.3564C>A (p.His1188Gln) c.3414C>A (p.His1138Gln) | |
| 5 | g.128338029T>A | CA360759267 | FBN2 | n.350A>T n.431A>T c.3566A>T (p.His1189Leu) c.116A>T (p.His39Leu) c.3467A>T (p.His1156Leu) c.3563A>T (p.His1188Leu) c.3413A>T (p.His1138Leu) | |
| 5 | g.128338029T>C | CA360759264 | FBN2 | n.350A>G n.431A>G c.3566A>G (p.His1189Arg) c.116A>G (p.His39Arg) c.3467A>G (p.His1156Arg) c.3563A>G (p.His1188Arg) c.3413A>G (p.His1138Arg) | |
| 5 | g.128338029T>G | CA323415 | FBN2 | n.350A>C n.431A>C c.3566A>C (p.His1189Pro) c.116A>C (p.His39Pro) c.3467A>C (p.His1156Pro) c.3563A>C (p.His1188Pro) c.3413A>C (p.His1138Pro) | ClinVar dbSNP gnomAD v4 |
| 5 | g.128338029T= | CA1581270729 | FBN2 | n.350A= n.431A= c.3566A= (p.His1189=) c.116A= (p.His39=) c.3467A= (p.His1156=) c.3563A= (p.His1188=) c.3413A= (p.His1138=) | |
| 5 | g.128338030G>A | CA324034 | FBN2 | n.349C>T n.430C>T c.3565C>T (p.His1189Tyr) c.115C>T (p.His39Tyr) c.3466C>T (p.His1156Tyr) c.3562C>T (p.His1188Tyr) c.3412C>T (p.His1138Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128338030G>C | CA360759270 | FBN2 | n.349C>G n.430C>G c.3565C>G (p.His1189Asp) c.115C>G (p.His39Asp) c.3466C>G (p.His1156Asp) c.3562C>G (p.His1188Asp) c.3412C>G (p.His1138Asp) | |
| 5 | g.128338030G= | CA1581270730 | FBN2 | n.349C= n.430C= c.3565C= (p.His1189=) c.115C= (p.His39=) c.3466C= (p.His1156=) c.3562C= (p.His1188=) c.3412C= (p.His1138=) | |
| 5 | g.128338030G>T | CA360759272 | FBN2 | n.349C>A n.430C>A c.3565C>A (p.His1189Asn) c.115C>A (p.His39Asn) c.3466C>A (p.His1156Asn) c.3562C>A (p.His1188Asn) c.3412C>A (p.His1138Asn) | |
| 5 | g.128338031T>A | CA446310576 | FBN2 | n.348A>T n.429A>T c.3564A>T (p.Gly1188=) c.114A>T (p.Gly38=) c.3465A>T (p.Gly1155=) c.3561A>T (p.Gly1187=) c.3411A>T (p.Gly1137=) | |
| 5 | g.128338031T>C | CA446310577 | FBN2 | n.348A>G n.429A>G c.3564A>G (p.Gly1188=) c.114A>G (p.Gly38=) c.3465A>G (p.Gly1155=) c.3561A>G (p.Gly1187=) c.3411A>G (p.Gly1137=) | |
| 5 | g.128338031T>G | CA446310578 | FBN2 | n.348A>C n.429A>C c.3564A>C (p.Gly1188=) c.114A>C (p.Gly38=) c.3465A>C (p.Gly1155=) c.3561A>C (p.Gly1187=) c.3411A>C (p.Gly1137=) | |
| 5 | g.128338032C>A | CA360759274 | FBN2 | n.347G>T n.428G>T c.3563G>T (p.Gly1188Val) c.113G>T (p.Gly38Val) c.3464G>T (p.Gly1155Val) c.3560G>T (p.Gly1187Val) c.3410G>T (p.Gly1137Val) | COSMIC COSMIC |
| 5 | g.128338032C= | CA1581270731 | FBN2 | n.347G= n.428G= c.3563G= (p.Gly1188=) c.113G= (p.Gly38=) c.3464G= (p.Gly1155=) c.3560G= (p.Gly1187=) c.3410G= (p.Gly1137=) | |
| 5 | g.128338032C>G | CA360759276 | FBN2 | n.347G>C n.428G>C c.3563G>C (p.Gly1188Ala) c.113G>C (p.Gly38Ala) c.3464G>C (p.Gly1155Ala) c.3560G>C (p.Gly1187Ala) c.3410G>C (p.Gly1137Ala) | |
| 5 | g.128338032C>T | CA321793 | FBN2 | n.347G>A n.428G>A c.3563G>A (p.Gly1188Glu) c.113G>A (p.Gly38Glu) c.3464G>A (p.Gly1155Glu) c.3560G>A (p.Gly1187Glu) c.3410G>A (p.Gly1137Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128338033C>A | CA360759279 | FBN2 | n.346G>T n.427G>T c.3562G>T (p.Gly1188Ter) c.112G>T (p.Gly38Ter) c.3463G>T (p.Gly1155Ter) c.3559G>T (p.Gly1187Ter) c.3409G>T (p.Gly1137Ter) | |
| 5 | g.128338033C= | CA1581270732 | FBN2 | n.346G= n.427G= c.3562G= (p.Gly1188=) c.112G= (p.Gly38=) c.3463G= (p.Gly1155=) c.3559G= (p.Gly1187=) c.3409G= (p.Gly1137=) | |
| 5 | g.128338033C>G | CA360759283 | FBN2 | n.346G>C n.427G>C c.3562G>C (p.Gly1188Arg) c.112G>C (p.Gly38Arg) c.3463G>C (p.Gly1155Arg) c.3559G>C (p.Gly1187Arg) c.3409G>C (p.Gly1137Arg) | |
| 5 | g.128338033C>T | CA360759280 | FBN2 | n.346G>A n.427G>A c.3562G>A (p.Gly1188Arg) c.112G>A (p.Gly38Arg) c.3463G>A (p.Gly1155Arg) c.3559G>A (p.Gly1187Arg) c.3409G>A (p.Gly1137Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128338034C>A | CA446310579 | FBN2 | n.345G>T n.426G>T c.3561G>T (p.Leu1187=) c.111G>T (p.Leu37=) c.3462G>T (p.Leu1154=) c.3558G>T (p.Leu1186=) c.3408G>T (p.Leu1136=) | |
| 5 | g.128338034C>G | CA446310581 | FBN2 | n.345G>C n.426G>C c.3561G>C (p.Leu1187=) c.111G>C (p.Leu37=) c.3462G>C (p.Leu1154=) c.3558G>C (p.Leu1186=) c.3408G>C (p.Leu1136=) | |
| 5 | g.128338034C>T | CA446310582 | FBN2 | n.345G>A n.426G>A c.3561G>A (p.Leu1187=) c.111G>A (p.Leu37=) c.3462G>A (p.Leu1154=) c.3558G>A (p.Leu1186=) c.3408G>A (p.Leu1136=) | |
| 5 | g.128338035A>C | CA360759285 | FBN2 | n.344T>G n.425T>G c.3560T>G (p.Leu1187Arg) c.110T>G (p.Leu37Arg) c.3461T>G (p.Leu1154Arg) c.3557T>G (p.Leu1186Arg) c.3407T>G (p.Leu1136Arg) | |
| 5 | g.128338035A>G | CA360759286 | FBN2 | n.344T>C n.425T>C c.3560T>C (p.Leu1187Pro) c.110T>C (p.Leu37Pro) c.3461T>C (p.Leu1154Pro) c.3557T>C (p.Leu1186Pro) c.3407T>C (p.Leu1136Pro) | |
| 5 | g.128338035A>T | CA360759288 | FBN2 | n.344T>A n.425T>A c.3560T>A (p.Leu1187Gln) c.110T>A (p.Leu37Gln) c.3461T>A (p.Leu1154Gln) c.3557T>A (p.Leu1186Gln) c.3407T>A (p.Leu1136Gln) | |
| 5 | g.128338036G>A | CA3395201 | FBN2 | n.343C>T n.424C>T c.3559C>T (p.Leu1187=) c.109C>T (p.Leu37=) c.3460C>T (p.Leu1154=) c.3556C>T (p.Leu1186=) c.3406C>T (p.Leu1136=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128338036G>C | CA360759291 | FBN2 | n.343C>G n.424C>G c.3559C>G (p.Leu1187Val) c.109C>G (p.Leu37Val) c.3460C>G (p.Leu1154Val) c.3556C>G (p.Leu1186Val) c.3406C>G (p.Leu1136Val) | |
| 5 | g.128338036G= | CA1581270733 | FBN2 | n.343C= n.424C= c.3559C= (p.Leu1187=) c.109C= (p.Leu37=) c.3460C= (p.Leu1154=) c.3556C= (p.Leu1186=) c.3406C= (p.Leu1136=) | |
| 5 | g.128338036G>T | CA360759292 | FBN2 | n.343C>A n.424C>A c.3559C>A (p.Leu1187Met) c.109C>A (p.Leu37Met) c.3460C>A (p.Leu1154Met) c.3556C>A (p.Leu1186Met) c.3406C>A (p.Leu1136Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128338037T>A | CA446310587 | FBN2 | n.342A>T n.423A>T c.3558A>T (p.Pro1186=) c.108A>T (p.Pro36=) c.3459A>T (p.Pro1153=) c.3555A>T (p.Pro1185=) c.3405A>T (p.Pro1135=) | |
| 5 | g.128338037T>C | CA446310588 | FBN2 | n.342A>G n.423A>G c.3558A>G (p.Pro1186=) c.108A>G (p.Pro36=) c.3459A>G (p.Pro1153=) c.3555A>G (p.Pro1185=) c.3405A>G (p.Pro1135=) | |
| 5 | g.128338037T>G | CA446310589 | FBN2 | n.342A>C n.423A>C c.3558A>C (p.Pro1186=) c.108A>C (p.Pro36=) c.3459A>C (p.Pro1153=) c.3555A>C (p.Pro1185=) c.3405A>C (p.Pro1135=) | |
| 5 | g.128338038G>A | CA360759293 | FBN2 | n.341C>T n.422C>T c.3557C>T (p.Pro1186Leu) c.107C>T (p.Pro36Leu) c.3458C>T (p.Pro1153Leu) c.3554C>T (p.Pro1185Leu) c.3404C>T (p.Pro1135Leu) | gnomAD v4 |
| 5 | g.128338038G>C | CA360759295 | FBN2 | n.341C>G n.422C>G c.3557C>G (p.Pro1186Arg) c.107C>G (p.Pro36Arg) c.3458C>G (p.Pro1153Arg) c.3554C>G (p.Pro1185Arg) c.3404C>G (p.Pro1135Arg) | |
| 5 | g.128338038G>T | CA360759297 | FBN2 | n.341C>A n.422C>A c.3557C>A (p.Pro1186Gln) c.107C>A (p.Pro36Gln) c.3458C>A (p.Pro1153Gln) c.3554C>A (p.Pro1185Gln) c.3404C>A (p.Pro1135Gln) | |
| 5 | g.128338040del | CA2675117525 | FBN2 | n.341del n.422del c.3557del (p.Pro1186HisfsTer21) c.107del (p.Pro36HisfsTer21) c.3458del (p.Pro1153HisfsTer21) c.3554del (p.Pro1185HisfsTer21) c.3404del (p.Pro1135HisfsTer21) | gnomAD v4 |
| 5 | g.128338038_128338039insTGACTGCCCACT | CA2675117526 | FBN2 | n.340_341insAGTGGGCAGTCA n.421_422insAGTGGGCAGTCA c.3556_3557insAGTGGGCAGTCA (p.Pro1186delinsGlnTrpAlaValThr) c.106_107insAGTGGGCAGTCA (p.Pro36delinsGlnTrpAlaValThr) c.3457_3458insAGTGGGCAGTCA (p.Pro1153delinsGlnTrpAlaValThr) c.3553_3554insAGTGGGCAGTCA (p.Pro1185delinsGlnTrpAlaValThr) c.3403_3404insAGTGGGCAGTCA (p.Pro1135delinsGlnTrpAlaValThr) | gnomAD v4 |
| 5 | g.128338039G>A | CA360759299 | FBN2 | n.340C>T n.421C>T c.3556C>T (p.Pro1186Ser) c.106C>T (p.Pro36Ser) c.3457C>T (p.Pro1153Ser) c.3553C>T (p.Pro1185Ser) c.3403C>T (p.Pro1135Ser) | |
| 5 | g.128338039G>C | CA360759300 | FBN2 | n.340C>G n.421C>G c.3556C>G (p.Pro1186Ala) c.106C>G (p.Pro36Ala) c.3457C>G (p.Pro1153Ala) c.3553C>G (p.Pro1185Ala) c.3403C>G (p.Pro1135Ala) | |
| 5 | g.128338039G>T | CA360759301 | FBN2 | n.340C>A n.421C>A c.3556C>A (p.Pro1186Thr) c.106C>A (p.Pro36Thr) c.3457C>A (p.Pro1153Thr) c.3553C>A (p.Pro1185Thr) c.3403C>A (p.Pro1135Thr) | |
| 5 | g.128338040G>A | CA446310591 | FBN2 | n.339C>T n.420C>T c.3555C>T (p.Cys1185=) c.105C>T (p.Cys35=) c.3456C>T (p.Cys1152=) c.3552C>T (p.Cys1184=) c.3402C>T (p.Cys1134=) | |
| 5 | g.128338040G>C | CA360759305 | FBN2 | n.339C>G n.420C>G c.3555C>G (p.Cys1185Trp) c.105C>G (p.Cys35Trp) c.3456C>G (p.Cys1152Trp) c.3552C>G (p.Cys1184Trp) c.3402C>G (p.Cys1134Trp) | |
| 5 | g.128338040G>T | CA360759303 | FBN2 | n.339C>A n.420C>A c.3555C>A (p.Cys1185Ter) c.105C>A (p.Cys35Ter) c.3456C>A (p.Cys1152Ter) c.3552C>A (p.Cys1184Ter) c.3402C>A (p.Cys1134Ter) | |
| 5 | g.128338041C>A | CA360759307 | FBN2 | n.338G>T n.419G>T c.3554G>T (p.Cys1185Phe) c.104G>T (p.Cys35Phe) c.3455G>T (p.Cys1152Phe) c.3551G>T (p.Cys1184Phe) c.3401G>T (p.Cys1134Phe) | |
| 5 | g.128338041C>G | CA360759311 | FBN2 | n.338G>C n.419G>C c.3554G>C (p.Cys1185Ser) c.104G>C (p.Cys35Ser) c.3455G>C (p.Cys1152Ser) c.3551G>C (p.Cys1184Ser) c.3401G>C (p.Cys1134Ser) | gnomAD v4 |
| 5 | g.128338041C>T | CA360759309 | FBN2 | n.338G>A n.419G>A c.3554G>A (p.Cys1185Tyr) c.104G>A (p.Cys35Tyr) c.3455G>A (p.Cys1152Tyr) c.3551G>A (p.Cys1184Tyr) c.3401G>A (p.Cys1134Tyr) | |
| 5 | g.128338042A>C | CA360759315 | FBN2 | n.337T>G n.418T>G c.3553T>G (p.Cys1185Gly) c.103T>G (p.Cys35Gly) c.3454T>G (p.Cys1152Gly) c.3550T>G (p.Cys1184Gly) c.3400T>G (p.Cys1134Gly) | |
| 5 | g.128338042A>G | CA360759318 | FBN2 | n.337T>C n.418T>C c.3553T>C (p.Cys1185Arg) c.103T>C (p.Cys35Arg) c.3454T>C (p.Cys1152Arg) c.3550T>C (p.Cys1184Arg) c.3400T>C (p.Cys1134Arg) | |
| 5 | g.128338042A>T | CA360759316 | FBN2 | n.337T>A n.418T>A c.3553T>A (p.Cys1185Ser) c.103T>A (p.Cys35Ser) c.3454T>A (p.Cys1152Ser) c.3550T>A (p.Cys1184Ser) c.3400T>A (p.Cys1134Ser) | |
| 5 | g.128338043G>A | CA446310598 | FBN2 | n.336C>T n.417C>T c.3552C>T (p.Asp1184=) c.102C>T (p.Asp34=) c.3453C>T (p.Asp1151=) c.3549C>T (p.Asp1183=) c.3399C>T (p.Asp1133=) | |
| 5 | g.128338043G>C | CA360759320 | FBN2 | n.336C>G n.417C>G c.3552C>G (p.Asp1184Glu) c.102C>G (p.Asp34Glu) c.3453C>G (p.Asp1151Glu) c.3549C>G (p.Asp1183Glu) c.3399C>G (p.Asp1133Glu) | |
| 5 | g.128338043G>T | CA360759321 | FBN2 | n.336C>A n.417C>A c.3552C>A (p.Asp1184Glu) c.102C>A (p.Asp34Glu) c.3453C>A (p.Asp1151Glu) c.3549C>A (p.Asp1183Glu) c.3399C>A (p.Asp1133Glu) | |
| 5 | g.128338044T>A | CA360759324 | FBN2 | n.335A>T n.416A>T c.3551A>T (p.Asp1184Val) c.101A>T (p.Asp34Val) c.3452A>T (p.Asp1151Val) c.3548A>T (p.Asp1183Val) c.3398A>T (p.Asp1133Val) | |
| 5 | g.128338044T>C | CA360759325 | FBN2 | n.335A>G n.416A>G c.3551A>G (p.Asp1184Gly) c.101A>G (p.Asp34Gly) c.3452A>G (p.Asp1151Gly) c.3548A>G (p.Asp1183Gly) c.3398A>G (p.Asp1133Gly) | |
| 5 | g.128338044T>G | CA360759326 | FBN2 | n.335A>C n.416A>C c.3551A>C (p.Asp1184Ala) c.101A>C (p.Asp34Ala) c.3452A>C (p.Asp1151Ala) c.3548A>C (p.Asp1183Ala) c.3398A>C (p.Asp1133Ala) | |
| 5 | g.128338045C>A | CA360759327 | FBN2 | n.334G>T n.415G>T c.3550G>T (p.Asp1184Tyr) c.100G>T (p.Asp34Tyr) c.3451G>T (p.Asp1151Tyr) c.3547G>T (p.Asp1183Tyr) c.3397G>T (p.Asp1133Tyr) | |
| 5 | g.128338045C>G | CA360759328 | FBN2 | n.334G>C n.415G>C c.3550G>C (p.Asp1184His) c.100G>C (p.Asp34His) c.3451G>C (p.Asp1151His) c.3547G>C (p.Asp1183His) c.3397G>C (p.Asp1133His) | |
| 5 | g.128338045C>T | CA360759329 | FBN2 | n.334G>A n.415G>A c.3550G>A (p.Asp1184Asn) c.100G>A (p.Asp34Asn) c.3451G>A (p.Asp1151Asn) c.3547G>A (p.Asp1183Asn) c.3397G>A (p.Asp1133Asn) | |
| 5 | g.128338046A>C | CA360759330 | FBN2 | n.333T>G n.414T>G c.3549T>G (p.Cys1183Trp) c.99T>G (p.Cys33Trp) c.3450T>G (p.Cys1150Trp) c.3546T>G (p.Cys1182Trp) c.3396T>G (p.Cys1132Trp) | |
| 5 | g.128338046A>G | CA446310604 | FBN2 | n.333T>C n.414T>C c.3549T>C (p.Cys1183=) c.99T>C (p.Cys33=) c.3450T>C (p.Cys1150=) c.3546T>C (p.Cys1182=) c.3396T>C (p.Cys1132=) | |
| 5 | g.128338046A>T | CA360759331 | FBN2 | n.333T>A n.414T>A c.3549T>A (p.Cys1183Ter) c.99T>A (p.Cys33Ter) c.3450T>A (p.Cys1150Ter) c.3546T>A (p.Cys1182Ter) c.3396T>A (p.Cys1132Ter) | |
| 5 | g.128338047C>A | CA360759334 | FBN2 | n.332G>T n.413G>T c.3548G>T (p.Cys1183Phe) c.98G>T (p.Cys33Phe) c.3449G>T (p.Cys1150Phe) c.3545G>T (p.Cys1182Phe) c.3395G>T (p.Cys1132Phe) | |
| 5 | g.128338047C>G | CA360759333 | FBN2 | n.332G>C n.413G>C c.3548G>C (p.Cys1183Ser) c.98G>C (p.Cys33Ser) c.3449G>C (p.Cys1150Ser) c.3545G>C (p.Cys1182Ser) c.3395G>C (p.Cys1132Ser) | |
| 5 | g.128338047C>T | CA360759332 | FBN2 | n.332G>A n.413G>A c.3548G>A (p.Cys1183Tyr) c.98G>A (p.Cys33Tyr) c.3449G>A (p.Cys1150Tyr) c.3545G>A (p.Cys1182Tyr) c.3395G>A (p.Cys1132Tyr) | COSMIC COSMIC |
| 5 | g.128338048A>C | CA360759335 | FBN2 | n.331T>G n.412T>G c.3547T>G (p.Cys1183Gly) c.97T>G (p.Cys33Gly) c.3448T>G (p.Cys1150Gly) c.3544T>G (p.Cys1182Gly) c.3394T>G (p.Cys1132Gly) | |
| 5 | g.128338048A>G | CA360759336 | FBN2 | n.331T>C n.412T>C c.3547T>C (p.Cys1183Arg) c.97T>C (p.Cys33Arg) c.3448T>C (p.Cys1150Arg) c.3544T>C (p.Cys1182Arg) c.3394T>C (p.Cys1132Arg) | ClinVar |
| 5 | g.128338048A>T | CA360759337 | FBN2 | n.331T>A n.412T>A c.3547T>A (p.Cys1183Ser) c.97T>A (p.Cys33Ser) c.3448T>A (p.Cys1150Ser) c.3544T>A (p.Cys1182Ser) c.3394T>A (p.Cys1132Ser) | |
| 5 | g.128338049C>A | CA3395202 | FBN2 | n.330G>T n.411G>T c.3546G>T (p.Gln1182His) c.96G>T (p.Gln32His) c.3447G>T (p.Gln1149His) c.3543G>T (p.Gln1181His) c.3393G>T (p.Gln1131His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128338049C= | CA1581270734 | FBN2 | n.330G= n.411G= c.3546G= (p.Gln1182=) c.96G= (p.Gln32=) c.3447G= (p.Gln1149=) c.3543G= (p.Gln1181=) c.3393G= (p.Gln1131=) | |
| 5 | g.128338049C>G | CA360759338 | FBN2 | n.330G>C n.411G>C c.3546G>C (p.Gln1182His) c.96G>C (p.Gln32His) c.3447G>C (p.Gln1149His) c.3543G>C (p.Gln1181His) c.3393G>C (p.Gln1131His) | |
| 5 | g.128338049C>T | CA446310609 | FBN2 | n.330G>A n.411G>A c.3546G>A (p.Gln1182=) c.96G>A (p.Gln32=) c.3447G>A (p.Gln1149=) c.3543G>A (p.Gln1181=) c.3393G>A (p.Gln1131=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128338050T>A | CA360759339 | FBN2 | n.329A>T n.410A>T c.3545A>T (p.Gln1182Leu) c.95A>T (p.Gln32Leu) c.3446A>T (p.Gln1149Leu) c.3542A>T (p.Gln1181Leu) c.3392A>T (p.Gln1131Leu) | |
| 5 | g.128338050T>C | CA360759340 | FBN2 | n.329A>G n.410A>G c.3545A>G (p.Gln1182Arg) c.95A>G (p.Gln32Arg) c.3446A>G (p.Gln1149Arg) c.3542A>G (p.Gln1181Arg) c.3392A>G (p.Gln1131Arg) | gnomAD v4 |
| 5 | g.128338050T>G | CA360759341 | FBN2 | n.329A>C n.410A>C c.3545A>C (p.Gln1182Pro) c.95A>C (p.Gln32Pro) c.3446A>C (p.Gln1149Pro) c.3542A>C (p.Gln1181Pro) c.3392A>C (p.Gln1131Pro) | |
| 5 | g.128338051G>A | CA360759342 | FBN2 | n.328C>T n.409C>T c.3544C>T (p.Gln1182Ter) c.94C>T (p.Gln32Ter) c.3445C>T (p.Gln1149Ter) c.3541C>T (p.Gln1181Ter) c.3391C>T (p.Gln1131Ter) | COSMIC COSMIC |
| 5 | g.128338051G>C | CA360759343 | FBN2 | n.328C>G n.409C>G c.3544C>G (p.Gln1182Glu) c.94C>G (p.Gln32Glu) c.3445C>G (p.Gln1149Glu) c.3541C>G (p.Gln1181Glu) c.3391C>G (p.Gln1131Glu) | |
| 5 | g.128338051G>T | CA360759344 | FBN2 | n.328C>A n.409C>A c.3544C>A (p.Gln1182Lys) c.94C>A (p.Gln32Lys) c.3445C>A (p.Gln1149Lys) c.3541C>A (p.Gln1181Lys) c.3391C>A (p.Gln1131Lys) | |
| 5 | g.128338052A>C | CA360759346 | FBN2 | n.327T>G n.408T>G c.3543T>G (p.Phe1181Leu) c.93T>G (p.Phe31Leu) c.3444T>G (p.Phe1148Leu) c.3540T>G (p.Phe1180Leu) c.3390T>G (p.Phe1130Leu) | |
| 5 | g.128338052A>G | CA446310619 | FBN2 | n.327T>C n.408T>C c.3543T>C (p.Phe1181=) c.93T>C (p.Phe31=) c.3444T>C (p.Phe1148=) c.3540T>C (p.Phe1180=) c.3390T>C (p.Phe1130=) | |
| 5 | g.128338052A>T | CA360759345 | FBN2 | n.327T>A n.408T>A c.3543T>A (p.Phe1181Leu) c.93T>A (p.Phe31Leu) c.3444T>A (p.Phe1148Leu) c.3540T>A (p.Phe1180Leu) c.3390T>A (p.Phe1130Leu) | |
| 5 | g.128338053A>C | CA360759347 | FBN2 | n.326T>G n.407T>G c.3542T>G (p.Phe1181Cys) c.92T>G (p.Phe31Cys) c.3443T>G (p.Phe1148Cys) c.3539T>G (p.Phe1180Cys) c.3389T>G (p.Phe1130Cys) | |
| 5 | g.128338053A>G | CA360759348 | FBN2 | n.326T>C n.407T>C c.3542T>C (p.Phe1181Ser) c.92T>C (p.Phe31Ser) c.3443T>C (p.Phe1148Ser) c.3539T>C (p.Phe1180Ser) c.3389T>C (p.Phe1130Ser) | |
| 5 | g.128338053A>T | CA360759349 | FBN2 | n.326T>A n.407T>A c.3542T>A (p.Phe1181Tyr) c.92T>A (p.Phe31Tyr) c.3443T>A (p.Phe1148Tyr) c.3539T>A (p.Phe1180Tyr) c.3389T>A (p.Phe1130Tyr) | |
| 5 | g.128338054A>C | CA360759350 | FBN2 | n.325T>G n.406T>G c.3541T>G (p.Phe1181Val) c.91T>G (p.Phe31Val) c.3442T>G (p.Phe1148Val) c.3538T>G (p.Phe1180Val) c.3388T>G (p.Phe1130Val) | |
| 5 | g.128338054A>G | CA360759351 | FBN2 | n.325T>C n.406T>C c.3541T>C (p.Phe1181Leu) c.91T>C (p.Phe31Leu) c.3442T>C (p.Phe1148Leu) c.3538T>C (p.Phe1180Leu) c.3388T>C (p.Phe1130Leu) | |
| 5 | g.128338054A>T | CA360759352 | FBN2 | n.325T>A n.406T>A c.3541T>A (p.Phe1181Ile) c.91T>A (p.Phe31Ile) c.3442T>A (p.Phe1148Ile) c.3538T>A (p.Phe1180Ile) c.3388T>A (p.Phe1130Ile) | |
| 5 | g.128338055G>A | CA446310621 | FBN2 | n.324C>T n.405C>T c.3540C>T (p.Ser1180=) c.90C>T (p.Ser30=) c.3441C>T (p.Ser1147=) c.3537C>T (p.Ser1179=) c.3387C>T (p.Ser1129=) | |
| 5 | g.128338055G>C | CA360759354 | FBN2 | n.324C>G n.405C>G c.3540C>G (p.Ser1180Arg) c.90C>G (p.Ser30Arg) c.3441C>G (p.Ser1147Arg) c.3537C>G (p.Ser1179Arg) c.3387C>G (p.Ser1129Arg) | |
| 5 | g.128338055G>T | CA360759353 | FBN2 | n.324C>A n.405C>A c.3540C>A (p.Ser1180Arg) c.90C>A (p.Ser30Arg) c.3441C>A (p.Ser1147Arg) c.3537C>A (p.Ser1179Arg) c.3387C>A (p.Ser1129Arg) | |
| 5 | g.128338056C>A | CA360759355 | FBN2 | n.323G>T n.404G>T c.3539G>T (p.Ser1180Ile) c.89G>T (p.Ser30Ile) c.3440G>T (p.Ser1147Ile) c.3536G>T (p.Ser1179Ile) c.3386G>T (p.Ser1129Ile) | |
| 5 | g.128338056C= | CA1581270735 | FBN2 | n.323G= n.404G= c.3539G= (p.Ser1180=) c.89G= (p.Ser30=) c.3440G= (p.Ser1147=) c.3536G= (p.Ser1179=) c.3386G= (p.Ser1129=) | |
| 5 | g.128338056C>G | CA3395203 | FBN2 | n.323G>C n.404G>C c.3539G>C (p.Ser1180Thr) c.89G>C (p.Ser30Thr) c.3440G>C (p.Ser1147Thr) c.3536G>C (p.Ser1179Thr) c.3386G>C (p.Ser1129Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128338056C>T | CA360759356 | FBN2 | n.323G>A n.404G>A c.3539G>A (p.Ser1180Asn) c.89G>A (p.Ser30Asn) c.3440G>A (p.Ser1147Asn) c.3536G>A (p.Ser1179Asn) c.3386G>A (p.Ser1129Asn) | |
| 5 | g.128338057T>A | CA360759357 | FBN2 | n.322A>T n.403A>T c.3538A>T (p.Ser1180Cys) c.88A>T (p.Ser30Cys) c.3439A>T (p.Ser1147Cys) c.3535A>T (p.Ser1179Cys) c.3385A>T (p.Ser1129Cys) | |
| 5 | g.128338057T>C | CA360759358 | FBN2 | n.322A>G n.403A>G c.3538A>G (p.Ser1180Gly) c.88A>G (p.Ser30Gly) c.3439A>G (p.Ser1147Gly) c.3535A>G (p.Ser1179Gly) c.3385A>G (p.Ser1129Gly) | |
| 5 | g.128338057T>G | CA360759359 | FBN2 | n.322A>C n.403A>C c.3538A>C (p.Ser1180Arg) c.88A>C (p.Ser30Arg) c.3439A>C (p.Ser1147Arg) c.3535A>C (p.Ser1179Arg) c.3385A>C (p.Ser1129Arg) | |
| 5 | g.128338058G>A | CA446310625 | FBN2 | n.321C>T n.402C>T c.3537C>T (p.Gly1179=) c.87C>T (p.Gly29=) c.3438C>T (p.Gly1146=) c.3534C>T (p.Gly1178=) c.3384C>T (p.Gly1128=) | |
| 5 | g.128338058G>C | CA446310627 | FBN2 | n.321C>G n.402C>G c.3537C>G (p.Gly1179=) c.87C>G (p.Gly29=) c.3438C>G (p.Gly1146=) c.3534C>G (p.Gly1178=) c.3384C>G (p.Gly1128=) | |
| 5 | g.128338058G>T | CA446310626 | FBN2 | n.321C>A n.402C>A c.3537C>A (p.Gly1179=) c.87C>A (p.Gly29=) c.3438C>A (p.Gly1146=) c.3534C>A (p.Gly1178=) c.3384C>A (p.Gly1128=) | |
| 5 | g.128338059C>A | CA360759360 | FBN2 | n.320G>T n.401G>T c.3536G>T (p.Gly1179Val) c.86G>T (p.Gly29Val) c.3437G>T (p.Gly1146Val) c.3533G>T (p.Gly1178Val) c.3383G>T (p.Gly1128Val) | |
| 5 | g.128338059C>G | CA360759362 | FBN2 | n.320G>C n.401G>C c.3536G>C (p.Gly1179Ala) c.86G>C (p.Gly29Ala) c.3437G>C (p.Gly1146Ala) c.3533G>C (p.Gly1178Ala) c.3383G>C (p.Gly1128Ala) | |
| 5 | g.128338059C>T | CA360759361 | FBN2 | n.320G>A n.401G>A c.3536G>A (p.Gly1179Asp) c.86G>A (p.Gly29Asp) c.3437G>A (p.Gly1146Asp) c.3533G>A (p.Gly1178Asp) c.3383G>A (p.Gly1128Asp) | |
| 5 | g.128338060C>A | CA360759363 | FBN2 | n.319G>T n.400G>T c.3535G>T (p.Gly1179Cys) c.85G>T (p.Gly29Cys) c.3436G>T (p.Gly1146Cys) c.3532G>T (p.Gly1178Cys) c.3382G>T (p.Gly1128Cys) | ClinVar |
| 5 | g.128338060C>G | CA360759364 | FBN2 | n.319G>C n.400G>C c.3535G>C (p.Gly1179Arg) c.85G>C (p.Gly29Arg) c.3436G>C (p.Gly1146Arg) c.3532G>C (p.Gly1178Arg) c.3382G>C (p.Gly1128Arg) | |
| 5 | g.128338060C>T | CA360759365 | FBN2 | n.319G>A n.400G>A c.3535G>A (p.Gly1179Ser) c.85G>A (p.Gly29Ser) c.3436G>A (p.Gly1146Ser) c.3532G>A (p.Gly1178Ser) c.3382G>A (p.Gly1128Ser) | |
| 5 | g.128338061C>A | CA360759366 | FBN2 | n.318G>T n.399G>T c.3534G>T (p.Glu1178Asp) c.84G>T (p.Glu28Asp) c.3435G>T (p.Glu1145Asp) c.3531G>T (p.Glu1177Asp) c.3381G>T (p.Glu1127Asp) | |
| 5 | g.128338061C= | CA1581270736 | FBN2 | n.318G= n.399G= c.3534G= (p.Glu1178=) c.84G= (p.Glu28=) c.3435G= (p.Glu1145=) c.3531G= (p.Glu1177=) c.3381G= (p.Glu1127=) | |
| 5 | g.128338061C>G | CA3395204 | FBN2 | n.318G>C n.399G>C c.3534G>C (p.Glu1178Asp) c.84G>C (p.Glu28Asp) c.3435G>C (p.Glu1145Asp) c.3531G>C (p.Glu1177Asp) c.3381G>C (p.Glu1127Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128338061C>T | CA446310631 | FBN2 | n.318G>A n.399G>A c.3534G>A (p.Glu1178=) c.84G>A (p.Glu28=) c.3435G>A (p.Glu1145=) c.3531G>A (p.Glu1177=) c.3381G>A (p.Glu1127=) | gnomAD v4 |
| 5 | g.128338062T>A | CA360759367 | FBN2 | n.317A>T n.398A>T c.3533A>T (p.Glu1178Val) c.83A>T (p.Glu28Val) c.3434A>T (p.Glu1145Val) c.3530A>T (p.Glu1177Val) c.3380A>T (p.Glu1127Val) | |
| 5 | g.128338062T>C | CA360759368 | FBN2 | n.317A>G n.398A>G c.3533A>G (p.Glu1178Gly) c.83A>G (p.Glu28Gly) c.3434A>G (p.Glu1145Gly) c.3530A>G (p.Glu1177Gly) c.3380A>G (p.Glu1127Gly) | |
| 5 | g.128338062T>G | CA360759369 | FBN2 | n.317A>C n.398A>C c.3533A>C (p.Glu1178Ala) c.83A>C (p.Glu28Ala) c.3434A>C (p.Glu1145Ala) c.3530A>C (p.Glu1177Ala) c.3380A>C (p.Glu1127Ala) | |
| 5 | g.128338063C>A | CA360759370 | FBN2 | n.316G>T n.397G>T c.3532G>T (p.Glu1178Ter) c.82G>T (p.Glu28Ter) c.3433G>T (p.Glu1145Ter) c.3529G>T (p.Glu1177Ter) c.3379G>T (p.Glu1127Ter) | |
| 5 | g.128338063C= | CA1581270737 | FBN2 | n.316G= n.397G= c.3532G= (p.Glu1178=) c.82G= (p.Glu28=) c.3433G= (p.Glu1145=) c.3529G= (p.Glu1177=) c.3379G= (p.Glu1127=) | |
| 5 | g.128338063C>G | CA360759371 | FBN2 | n.316G>C n.397G>C c.3532G>C (p.Glu1178Gln) c.82G>C (p.Glu28Gln) c.3433G>C (p.Glu1145Gln) c.3529G>C (p.Glu1177Gln) c.3379G>C (p.Glu1127Gln) | COSMIC COSMIC |
| 5 | g.128338063C>T | CA360759372 | FBN2 | n.316G>A n.397G>A c.3532G>A (p.Glu1178Lys) c.82G>A (p.Glu28Lys) c.3433G>A (p.Glu1145Lys) c.3529G>A (p.Glu1177Lys) c.3379G>A (p.Glu1127Lys) | dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.128338064A>C | CA446310634 | FBN2 | n.315T>G n.396T>G c.3531T>G (p.Thr1177=) c.81T>G (p.Thr27=) c.3432T>G (p.Thr1144=) c.3528T>G (p.Thr1176=) c.3378T>G (p.Thr1126=) | |
| 5 | g.128338064A>G | CA446310635 | FBN2 | n.315T>C n.396T>C c.3531T>C (p.Thr1177=) c.81T>C (p.Thr27=) c.3432T>C (p.Thr1144=) c.3528T>C (p.Thr1176=) c.3378T>C (p.Thr1126=) | |
| 5 | g.128338064A>T | CA446310636 | FBN2 | n.315T>A n.396T>A c.3531T>A (p.Thr1177=) c.81T>A (p.Thr27=) c.3432T>A (p.Thr1144=) c.3528T>A (p.Thr1176=) c.3378T>A (p.Thr1126=) | |
| 5 | g.128338065G>A | CA360759374 | FBN2 | n.314C>T n.395C>T c.3530C>T (p.Thr1177Ile) c.80C>T (p.Thr27Ile) c.3431C>T (p.Thr1144Ile) c.3527C>T (p.Thr1176Ile) c.3377C>T (p.Thr1126Ile) | |
| 5 | g.128338065G>C | CA360759376 | FBN2 | n.314C>G n.395C>G c.3530C>G (p.Thr1177Ser) c.80C>G (p.Thr27Ser) c.3431C>G (p.Thr1144Ser) c.3527C>G (p.Thr1176Ser) c.3377C>G (p.Thr1126Ser) | |
| 5 | g.128338065G= | CA1581270738 | FBN2 | n.314C= n.395C= c.3530C= (p.Thr1177=) c.80C= (p.Thr27=) c.3431C= (p.Thr1144=) c.3527C= (p.Thr1176=) c.3377C= (p.Thr1126=) | |
| 5 | g.128338065G>T | CA360759373 | FBN2 | n.314C>A n.395C>A c.3530C>A (p.Thr1177Asn) c.80C>A (p.Thr27Asn) c.3431C>A (p.Thr1144Asn) c.3527C>A (p.Thr1176Asn) c.3377C>A (p.Thr1126Asn) | dbSNP gnomAD v2 |
| 5 | g.128338066T>A | CA360759380 | FBN2 | n.313A>T n.394A>T c.3529A>T (p.Thr1177Ser) c.79A>T (p.Thr27Ser) c.3430A>T (p.Thr1144Ser) c.3526A>T (p.Thr1176Ser) c.3376A>T (p.Thr1126Ser) | |
| 5 | g.128338066T>C | CA127014890 | FBN2 | n.313A>G n.394A>G c.3529A>G (p.Thr1177Ala) c.79A>G (p.Thr27Ala) c.3430A>G (p.Thr1144Ala) c.3526A>G (p.Thr1176Ala) c.3376A>G (p.Thr1126Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128338066T>G | CA360759379 | FBN2 | n.313A>C n.394A>C c.3529A>C (p.Thr1177Pro) c.79A>C (p.Thr27Pro) c.3430A>C (p.Thr1144Pro) c.3526A>C (p.Thr1176Pro) c.3376A>C (p.Thr1126Pro) | |
| 5 | g.128338066T= | CA1581270739 | FBN2 | n.313A= n.394A= c.3529A= (p.Thr1177=) c.79A= (p.Thr27=) c.3430A= (p.Thr1144=) c.3526A= (p.Thr1176=) c.3376A= (p.Thr1126=) | |
| 5 | g.128338067G>A | CA446310640 | FBN2 | n.312C>T n.393C>T c.3528C>T (p.Asn1176=) c.78C>T (p.Asn26=) c.3429C>T (p.Asn1143=) c.3525C>T (p.Asn1175=) c.3375C>T (p.Asn1125=) | |
| 5 | g.128338067G>C | CA360759383 | FBN2 | n.312C>G n.393C>G c.3528C>G (p.Asn1176Lys) c.78C>G (p.Asn26Lys) c.3429C>G (p.Asn1143Lys) c.3525C>G (p.Asn1175Lys) c.3375C>G (p.Asn1125Lys) | |
| 5 | g.128338067G>T | CA360759385 | FBN2 | n.312C>A n.393C>A c.3528C>A (p.Asn1176Lys) c.78C>A (p.Asn26Lys) c.3429C>A (p.Asn1143Lys) c.3525C>A (p.Asn1175Lys) c.3375C>A (p.Asn1125Lys) | |
| 5 | g.128338068T>A | CA360759387 | FBN2 | n.311A>T n.392A>T c.3527A>T (p.Asn1176Ile) c.77A>T (p.Asn26Ile) c.3428A>T (p.Asn1143Ile) c.3524A>T (p.Asn1175Ile) c.3374A>T (p.Asn1125Ile) | gnomAD v4 |
| 5 | g.128338068T>C | CA360759388 | FBN2 | n.311A>G n.392A>G c.3527A>G (p.Asn1176Ser) c.77A>G (p.Asn26Ser) c.3428A>G (p.Asn1143Ser) c.3524A>G (p.Asn1175Ser) c.3374A>G (p.Asn1125Ser) | |
| 5 | g.128338068T>G | CA360759390 | FBN2 | n.311A>C n.392A>C c.3527A>C (p.Asn1176Thr) c.77A>C (p.Asn26Thr) c.3428A>C (p.Asn1143Thr) c.3524A>C (p.Asn1175Thr) c.3374A>C (p.Asn1125Thr) | |
| 5 | g.128338069T>A | CA360759392 | FBN2 | n.310A>T n.391A>T c.3526A>T (p.Asn1176Tyr) c.76A>T (p.Asn26Tyr) c.3427A>T (p.Asn1143Tyr) c.3523A>T (p.Asn1175Tyr) c.3373A>T (p.Asn1125Tyr) | |
| 5 | g.128338069T>C | CA360759395 | FBN2 | n.310A>G n.391A>G c.3526A>G (p.Asn1176Asp) c.76A>G (p.Asn26Asp) c.3427A>G (p.Asn1143Asp) c.3523A>G (p.Asn1175Asp) c.3373A>G (p.Asn1125Asp) | gnomAD v4 |
| 5 | g.128338069T>G | CA360759396 | FBN2 | n.310A>C n.391A>C c.3526A>C (p.Asn1176His) c.76A>C (p.Asn26His) c.3427A>C (p.Asn1143His) c.3523A>C (p.Asn1175His) c.3373A>C (p.Asn1125His) | |
| 5 | g.128338070C>A | CA446310643 | FBN2 | n.309G>T n.390G>T c.3525G>T (p.Val1175=) c.75G>T (p.Val25=) c.3426G>T (p.Val1142=) c.3522G>T (p.Val1174=) c.3372G>T (p.Val1124=) | |
| 5 | g.128338070C>G | CA446310644 | FBN2 | n.309G>C n.390G>C c.3525G>C (p.Val1175=) c.75G>C (p.Val25=) c.3426G>C (p.Val1142=) c.3522G>C (p.Val1174=) c.3372G>C (p.Val1124=) | COSMIC COSMIC |
| 5 | g.128338070C>T | CA446310645 | FBN2 | n.309G>A n.390G>A c.3525G>A (p.Val1175=) c.75G>A (p.Val25=) c.3426G>A (p.Val1142=) c.3522G>A (p.Val1174=) c.3372G>A (p.Val1124=) | |
| 5 | g.128338071A>C | CA360759397 | FBN2 | n.308T>G n.389T>G c.3524T>G (p.Val1175Gly) c.74T>G (p.Val25Gly) c.3425T>G (p.Val1142Gly) c.3521T>G (p.Val1174Gly) c.3371T>G (p.Val1124Gly) | gnomAD v4 |
| 5 | g.128338071A>G | CA360759398 | FBN2 | n.308T>C n.389T>C c.3524T>C (p.Val1175Ala) c.74T>C (p.Val25Ala) c.3425T>C (p.Val1142Ala) c.3521T>C (p.Val1174Ala) c.3371T>C (p.Val1124Ala) | |
| 5 | g.128338071A>T | CA360759399 | FBN2 | n.308T>A n.389T>A c.3524T>A (p.Val1175Glu) c.74T>A (p.Val25Glu) c.3425T>A (p.Val1142Glu) c.3521T>A (p.Val1174Glu) c.3371T>A (p.Val1124Glu) | |
| 5 | g.128338072C>A | CA360759405 | FBN2 | n.307G>T n.388G>T c.3523G>T (p.Val1175Leu) c.73G>T (p.Val25Leu) c.3424G>T (p.Val1142Leu) c.3520G>T (p.Val1174Leu) c.3370G>T (p.Val1124Leu) | gnomAD v4 |
| 5 | g.128338072C>G | CA360759401 | FBN2 | n.307G>C n.388G>C c.3523G>C (p.Val1175Leu) c.73G>C (p.Val25Leu) c.3424G>C (p.Val1142Leu) c.3520G>C (p.Val1174Leu) c.3370G>C (p.Val1124Leu) | |
| 5 | g.128338072C>T | CA360759403 | FBN2 | n.307G>A n.388G>A c.3523G>A (p.Val1175Met) c.73G>A (p.Val25Met) c.3424G>A (p.Val1142Met) c.3520G>A (p.Val1174Met) c.3370G>A (p.Val1124Met) | |
| 5 | g.128338073A>C | CA360759406 | FBN2 | n.306T>G n.387T>G c.3522T>G (p.Cys1174Trp) c.72T>G (p.Cys24Trp) c.3423T>G (p.Cys1141Trp) c.3519T>G (p.Cys1173Trp) c.3369T>G (p.Cys1123Trp) | |
| 5 | g.128338073A>G | CA446310649 | FBN2 | n.306T>C n.387T>C c.3522T>C (p.Cys1174=) c.72T>C (p.Cys24=) c.3423T>C (p.Cys1141=) c.3519T>C (p.Cys1173=) c.3369T>C (p.Cys1123=) | dbSNP |
| 5 | g.128338073A>T | CA360759408 | FBN2 | n.306T>A n.387T>A c.3522T>A (p.Cys1174Ter) c.72T>A (p.Cys24Ter) c.3423T>A (p.Cys1141Ter) c.3519T>A (p.Cys1173Ter) c.3369T>A (p.Cys1123Ter) | |
| 5 | g.128338074C>A | CA360759410 | FBN2 | n.305G>T n.386G>T c.3521G>T (p.Cys1174Phe) c.71G>T (p.Cys24Phe) c.3422G>T (p.Cys1141Phe) c.3518G>T (p.Cys1173Phe) c.3368G>T (p.Cys1123Phe) | ClinVar dbSNP |
| 5 | g.128338074C= | CA1581270740 | FBN2 | n.305G= n.386G= c.3521G= (p.Cys1174=) c.71G= (p.Cys24=) c.3422G= (p.Cys1141=) c.3518G= (p.Cys1173=) c.3368G= (p.Cys1123=) | |
| 5 | g.128338074C>G | CA360759411 | FBN2 | n.305G>C n.386G>C c.3521G>C (p.Cys1174Ser) c.71G>C (p.Cys24Ser) c.3422G>C (p.Cys1141Ser) c.3518G>C (p.Cys1173Ser) c.3368G>C (p.Cys1123Ser) | |
| 5 | g.128338074C>T | CA360759412 | FBN2 | n.305G>A n.386G>A c.3521G>A (p.Cys1174Tyr) c.71G>A (p.Cys24Tyr) c.3422G>A (p.Cys1141Tyr) c.3518G>A (p.Cys1173Tyr) c.3368G>A (p.Cys1123Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128338075A= | CA1581270741 | FBN2 | n.304T= n.385T= c.3520T= (p.Cys1174=) c.70T= (p.Cys24=) c.3421T= (p.Cys1141=) c.3517T= (p.Cys1173=) c.3367T= (p.Cys1123=) | |
| 5 | g.128338075A>C | CA322422 | FBN2 | n.304T>G n.385T>G c.3520T>G (p.Cys1174Gly) c.70T>G (p.Cys24Gly) c.3421T>G (p.Cys1141Gly) c.3517T>G (p.Cys1173Gly) c.3367T>G (p.Cys1123Gly) | dbSNP |
| 5 | g.128338075A>G | CA360759416 | FBN2 | n.304T>C n.385T>C c.3520T>C (p.Cys1174Arg) c.70T>C (p.Cys24Arg) c.3421T>C (p.Cys1141Arg) c.3517T>C (p.Cys1173Arg) c.3367T>C (p.Cys1123Arg) | ClinVar dbSNP |
| 5 | g.128338075A>T | CA360759418 | FBN2 | n.304T>A n.385T>A c.3520T>A (p.Cys1174Ser) c.70T>A (p.Cys24Ser) c.3421T>A (p.Cys1141Ser) c.3517T>A (p.Cys1173Ser) c.3367T>A (p.Cys1123Ser) | |
| 5 | g.128338076G>A | CA446310654 | FBN2 | n.303C>T n.384C>T c.3519C>T (p.Thr1173=) c.69C>T (p.Thr23=) c.3420C>T (p.Thr1140=) c.3516C>T (p.Thr1172=) c.3366C>T (p.Thr1122=) | |
| 5 | g.128338076G>C | CA3395205 | FBN2 | n.303C>G n.384C>G c.3519C>G (p.Thr1173=) c.69C>G (p.Thr23=) c.3420C>G (p.Thr1140=) c.3516C>G (p.Thr1172=) c.3366C>G (p.Thr1122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128338076G= | CA1581270742 | FBN2 | n.303C= n.384C= c.3519C= (p.Thr1173=) c.69C= (p.Thr23=) c.3420C= (p.Thr1140=) c.3516C= (p.Thr1172=) c.3366C= (p.Thr1122=) | |
| 5 | g.128338076G>T | CA446310655 | FBN2 | n.303C>A n.384C>A c.3519C>A (p.Thr1173=) c.69C>A (p.Thr23=) c.3420C>A (p.Thr1140=) c.3516C>A (p.Thr1172=) c.3366C>A (p.Thr1122=) | |
| 5 | g.128338077G>A | CA360759421 | FBN2 | n.302C>T n.383C>T c.3518C>T (p.Thr1173Ile) c.68C>T (p.Thr23Ile) c.3419C>T (p.Thr1140Ile) c.3515C>T (p.Thr1172Ile) c.3365C>T (p.Thr1122Ile) | dbSNP gnomAD v2 |
| 5 | g.128338077G>C | CA323111 | FBN2 | n.302C>G n.383C>G c.3518C>G (p.Thr1173Ser) c.68C>G (p.Thr23Ser) c.3419C>G (p.Thr1140Ser) c.3515C>G (p.Thr1172Ser) c.3365C>G (p.Thr1122Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128338077G= | CA1581270743 | FBN2 | n.302C= n.383C= c.3518C= (p.Thr1173=) c.68C= (p.Thr23=) c.3419C= (p.Thr1140=) c.3515C= (p.Thr1172=) c.3365C= (p.Thr1122=) | |
| 5 | g.128338077G>T | CA360759424 | FBN2 | n.302C>A n.383C>A c.3518C>A (p.Thr1173Asn) c.68C>A (p.Thr23Asn) c.3419C>A (p.Thr1140Asn) c.3515C>A (p.Thr1172Asn) c.3365C>A (p.Thr1122Asn) | |
| 5 | g.128338078T>A | CA360759430 | FBN2 | n.301A>T n.382A>T c.3517A>T (p.Thr1173Ser) c.67A>T (p.Thr23Ser) c.3418A>T (p.Thr1140Ser) c.3514A>T (p.Thr1172Ser) c.3364A>T (p.Thr1122Ser) | ClinVar dbSNP |
| 5 | g.128338078T>C | CA360759428 | FBN2 | n.301A>G n.382A>G c.3517A>G (p.Thr1173Ala) c.67A>G (p.Thr23Ala) c.3418A>G (p.Thr1140Ala) c.3514A>G (p.Thr1172Ala) c.3364A>G (p.Thr1122Ala) | |
| 5 | g.128338078T>G | CA360759426 | FBN2 | n.301A>C n.382A>C c.3517A>C (p.Thr1173Pro) c.67A>C (p.Thr23Pro) c.3418A>C (p.Thr1140Pro) c.3514A>C (p.Thr1172Pro) c.3364A>C (p.Thr1122Pro) | |
| 5 | g.128338078T= | CA1581270744 | FBN2 | n.301A= n.382A= c.3517A= (p.Thr1173=) c.67A= (p.Thr23=) c.3418A= (p.Thr1140=) c.3514A= (p.Thr1172=) c.3364A= (p.Thr1122=) | |
| 5 | g.128338079G>A | CA446310662 | FBN2 | n.300C>T n.381C>T c.3516C>T (p.Gly1172=) c.66C>T (p.Gly22=) c.3417C>T (p.Gly1139=) c.3513C>T (p.Gly1171=) c.3363C>T (p.Gly1121=) | |
| 5 | g.128338079G>C | CA446310663 | FBN2 | n.300C>G n.381C>G c.3516C>G (p.Gly1172=) c.66C>G (p.Gly22=) c.3417C>G (p.Gly1139=) c.3513C>G (p.Gly1171=) c.3363C>G (p.Gly1121=) | |
| 5 | g.128338079G>T | CA446310664 | FBN2 | n.300C>A n.381C>A c.3516C>A (p.Gly1172=) c.66C>A (p.Gly22=) c.3417C>A (p.Gly1139=) c.3513C>A (p.Gly1171=) c.3363C>A (p.Gly1121=) | |
| 5 | g.128338080C>A | CA360759432 | FBN2 | n.299G>T n.380G>T c.3515G>T (p.Gly1172Val) c.65G>T (p.Gly22Val) c.3416G>T (p.Gly1139Val) c.3512G>T (p.Gly1171Val) c.3362G>T (p.Gly1121Val) | |
| 5 | g.128338080C= | CA1581270745 | FBN2 | n.299G= n.380G= c.3515G= (p.Gly1172=) c.65G= (p.Gly22=) c.3416G= (p.Gly1139=) c.3512G= (p.Gly1171=) c.3362G= (p.Gly1121=) | |
| 5 | g.128338080C>G | CA127014906 | FBN2 | n.299G>C n.380G>C c.3515G>C (p.Gly1172Ala) c.65G>C (p.Gly22Ala) c.3416G>C (p.Gly1139Ala) c.3512G>C (p.Gly1171Ala) c.3362G>C (p.Gly1121Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128338080C>T | CA16611897 | FBN2 | n.299G>A n.380G>A c.3515G>A (p.Gly1172Asp) c.65G>A (p.Gly22Asp) c.3416G>A (p.Gly1139Asp) c.3512G>A (p.Gly1171Asp) c.3362G>A (p.Gly1121Asp) | ClinVar dbSNP |
| 5 | g.128338081C>A | CA360759437 | FBN2 | n.298G>T n.379G>T c.3514G>T (p.Gly1172Cys) c.64G>T (p.Gly22Cys) c.3415G>T (p.Gly1139Cys) c.3511G>T (p.Gly1171Cys) c.3361G>T (p.Gly1121Cys) | ClinVar dbSNP |
| 5 | g.128338081C= | CA1581270746 | FBN2 | n.298G= n.379G= c.3514G= (p.Gly1172=) c.64G= (p.Gly22=) c.3415G= (p.Gly1139=) c.3511G= (p.Gly1171=) c.3361G= (p.Gly1121=) | |
| 5 | g.128338081C>G | CA360759439 | FBN2 | n.298G>C n.379G>C c.3514G>C (p.Gly1172Arg) c.64G>C (p.Gly22Arg) c.3415G>C (p.Gly1139Arg) c.3511G>C (p.Gly1171Arg) c.3361G>C (p.Gly1121Arg) | |
| 5 | g.128338081C>T | CA3395206 | FBN2 | n.298G>A n.379G>A c.3514G>A (p.Gly1172Ser) c.64G>A (p.Gly22Ser) c.3415G>A (p.Gly1139Ser) c.3511G>A (p.Gly1171Ser) c.3361G>A (p.Gly1121Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128338082A>C | CA446310670 | FBN2 | n.297T>G n.378T>G c.3513T>G (p.Gly1171=) c.63T>G (p.Gly21=) c.3414T>G (p.Gly1138=) c.3510T>G (p.Gly1170=) c.3360T>G (p.Gly1120=) | |
| 5 | g.128338082A>G | CA446310671 | FBN2 | n.297T>C n.378T>C c.3513T>C (p.Gly1171=) c.63T>C (p.Gly21=) c.3414T>C (p.Gly1138=) c.3510T>C (p.Gly1170=) c.3360T>C (p.Gly1120=) | |
| 5 | g.128338082A>T | CA446310672 | FBN2 | n.297T>A n.378T>A c.3513T>A (p.Gly1171=) c.63T>A (p.Gly21=) c.3414T>A (p.Gly1138=) c.3510T>A (p.Gly1170=) c.3360T>A (p.Gly1120=) | |
| 5 | g.128338083C>A | CA360759445 | FBN2 | n.296G>T n.377G>T c.3512G>T (p.Gly1171Val) c.62G>T (p.Gly21Val) c.3413G>T (p.Gly1138Val) c.3509G>T (p.Gly1170Val) c.3359G>T (p.Gly1120Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128338083C= | CA1581270747 | FBN2 | n.296G= n.377G= c.3512G= (p.Gly1171=) c.62G= (p.Gly21=) c.3413G= (p.Gly1138=) c.3509G= (p.Gly1170=) c.3359G= (p.Gly1120=) | |
| 5 | g.128338083C>G | CA360759447 | FBN2 | n.296G>C n.377G>C c.3512G>C (p.Gly1171Ala) c.62G>C (p.Gly21Ala) c.3413G>C (p.Gly1138Ala) c.3509G>C (p.Gly1170Ala) c.3359G>C (p.Gly1120Ala) | dbSNP |
| 5 | g.128338083C>T | CA360759449 | FBN2 | n.296G>A n.377G>A c.3512G>A (p.Gly1171Asp) c.62G>A (p.Gly21Asp) c.3413G>A (p.Gly1138Asp) c.3509G>A (p.Gly1170Asp) c.3359G>A (p.Gly1120Asp) | gnomAD v4 |
| 5 | g.128338084C>A | CA360759451 | FBN2 | n.295G>T n.376G>T c.3511G>T (p.Gly1171Cys) c.61G>T (p.Gly21Cys) c.3412G>T (p.Gly1138Cys) c.3508G>T (p.Gly1170Cys) c.3358G>T (p.Gly1120Cys) | |
| 5 | g.128338084C= | CA1581270748 | FBN2 | n.295G= n.376G= c.3511G= (p.Gly1171=) c.61G= (p.Gly21=) c.3412G= (p.Gly1138=) c.3508G= (p.Gly1170=) c.3358G= (p.Gly1120=) | |
| 5 | g.128338084C>G | CA360759453 | FBN2 | n.295G>C n.376G>C c.3511G>C (p.Gly1171Arg) c.61G>C (p.Gly21Arg) c.3412G>C (p.Gly1138Arg) c.3508G>C (p.Gly1170Arg) c.3358G>C (p.Gly1120Arg) | |
| 5 | g.128338084C>T | CA3395207 | FBN2 | n.295G>A n.376G>A c.3511G>A (p.Gly1171Ser) c.61G>A (p.Gly21Ser) c.3412G>A (p.Gly1138Ser) c.3508G>A (p.Gly1170Ser) c.3358G>A (p.Gly1120Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128338085C>A | CA360759456 | FBN2 | n.294G>T n.375G>T c.3510G>T (p.Arg1170Ser) c.60G>T (p.Arg20Ser) c.3411G>T (p.Arg1137Ser) c.3507G>T (p.Arg1169Ser) c.3357G>T (p.Arg1119Ser) | gnomAD v4 |
| 5 | g.128338085C>G | CA360759458 | FBN2 | n.294G>C n.375G>C c.3510G>C (p.Arg1170Ser) c.60G>C (p.Arg20Ser) c.3411G>C (p.Arg1137Ser) c.3507G>C (p.Arg1169Ser) c.3357G>C (p.Arg1119Ser) | |
| 5 | g.128338085C>T | CA446310678 | FBN2 | n.294G>A n.375G>A c.3510G>A (p.Arg1170=) c.60G>A (p.Arg20=) c.3411G>A (p.Arg1137=) c.3507G>A (p.Arg1169=) c.3357G>A (p.Arg1119=) | |
| 5 | g.128338086C>A | CA360759463 | FBN2 | n.293G>T n.374G>T c.3509G>T (p.Arg1170Met) c.59G>T (p.Arg20Met) c.3410G>T (p.Arg1137Met) c.3506G>T (p.Arg1169Met) c.3356G>T (p.Arg1119Met) | COSMIC COSMIC |
| 5 | g.128338086C= | CA1581270749 | FBN2 | n.293G= n.374G= c.3509G= (p.Arg1170=) c.59G= (p.Arg20=) c.3410G= (p.Arg1137=) c.3506G= (p.Arg1169=) c.3356G= (p.Arg1119=) | |
| 5 | g.128338086C>G | CA360759462 | FBN2 | n.293G>C n.374G>C c.3509G>C (p.Arg1170Thr) c.59G>C (p.Arg20Thr) c.3410G>C (p.Arg1137Thr) c.3506G>C (p.Arg1169Thr) c.3356G>C (p.Arg1119Thr) | dbSNP gnomAD v4 |
| 5 | g.128338086C>T | CA360759461 | FBN2 | n.293G>A n.374G>A c.3509G>A (p.Arg1170Lys) c.59G>A (p.Arg20Lys) c.3410G>A (p.Arg1137Lys) c.3506G>A (p.Arg1169Lys) c.3356G>A (p.Arg1119Lys) | |
| 5 | g.128338087T>A | CA360759465 | FBN2 | n.292A>T n.373A>T c.3508A>T (p.Arg1170Trp) c.58A>T (p.Arg20Trp) c.3409A>T (p.Arg1137Trp) c.3505A>T (p.Arg1169Trp) c.3355A>T (p.Arg1119Trp) | COSMIC COSMIC |
| 5 | g.128338087T>C | CA360759467 | FBN2 | n.292A>G n.373A>G c.3508A>G (p.Arg1170Gly) c.58A>G (p.Arg20Gly) c.3409A>G (p.Arg1137Gly) c.3505A>G (p.Arg1169Gly) c.3355A>G (p.Arg1119Gly) | |
| 5 | g.128338087T>G | CA446310683 | FBN2 | n.292A>C n.373A>C c.3508A>C (p.Arg1170=) c.58A>C (p.Arg20=) c.3409A>C (p.Arg1137=) c.3505A>C (p.Arg1169=) c.3355A>C (p.Arg1119=) | |
| 5 | g.128338088A= | CA1581270750 | FBN2 | n.291T= n.372T= c.3507T= (p.Cys1169=) c.57T= (p.Cys19=) c.3408T= (p.Cys1136=) c.3504T= (p.Cys1168=) c.3354T= (p.Cys1118=) | |
| 5 | g.128338088A>C | CA360759469 | FBN2 | n.291T>G n.372T>G c.3507T>G (p.Cys1169Trp) c.57T>G (p.Cys19Trp) c.3408T>G (p.Cys1136Trp) c.3504T>G (p.Cys1168Trp) c.3354T>G (p.Cys1118Trp) | |
| 5 | g.128338088A>G | CA446310684 | FBN2 | n.291T>C n.372T>C c.3507T>C (p.Cys1169=) c.57T>C (p.Cys19=) c.3408T>C (p.Cys1136=) c.3504T>C (p.Cys1168=) c.3354T>C (p.Cys1118=) | ClinVar dbSNP |
| 5 | g.128338088A>T | CA360759470 | FBN2 | n.291T>A n.372T>A c.3507T>A (p.Cys1169Ter) c.57T>A (p.Cys19Ter) c.3408T>A (p.Cys1136Ter) c.3504T>A (p.Cys1168Ter) c.3354T>A (p.Cys1118Ter) | |
| 5 | g.128338089C>A | CA360759472 | FBN2 | n.290G>T n.371G>T c.3506G>T (p.Cys1169Phe) c.56G>T (p.Cys19Phe) c.3407G>T (p.Cys1136Phe) c.3503G>T (p.Cys1168Phe) c.3353G>T (p.Cys1118Phe) | |
| 5 | g.128338089C>G | CA360759474 | FBN2 | n.290G>C n.371G>C c.3506G>C (p.Cys1169Ser) c.56G>C (p.Cys19Ser) c.3407G>C (p.Cys1136Ser) c.3503G>C (p.Cys1168Ser) c.3353G>C (p.Cys1118Ser) | |
| 5 | g.128338089C>T | CA360759476 | FBN2 | n.290G>A n.371G>A c.3506G>A (p.Cys1169Tyr) c.56G>A (p.Cys19Tyr) c.3407G>A (p.Cys1136Tyr) c.3503G>A (p.Cys1168Tyr) c.3353G>A (p.Cys1118Tyr) | |
| 5 | g.128338090A>C | CA360759478 | FBN2 | n.289T>G n.370T>G c.3505T>G (p.Cys1169Gly) c.55T>G (p.Cys19Gly) c.3406T>G (p.Cys1136Gly) c.3502T>G (p.Cys1168Gly) c.3352T>G (p.Cys1118Gly) | |
| 5 | g.128338090A>G | CA360759480 | FBN2 | n.289T>C n.370T>C c.3505T>C (p.Cys1169Arg) c.55T>C (p.Cys19Arg) c.3406T>C (p.Cys1136Arg) c.3502T>C (p.Cys1168Arg) c.3352T>C (p.Cys1118Arg) | ClinVar |
| 5 | g.128338090A>T | CA360759481 | FBN2 | n.289T>A n.370T>A c.3505T>A (p.Cys1169Ser) c.55T>A (p.Cys19Ser) c.3406T>A (p.Cys1136Ser) c.3502T>A (p.Cys1168Ser) c.3352T>A (p.Cys1118Ser) | |
| 5 | g.128338091A>C | CA446310690 | FBN2 | n.288T>G n.369T>G c.3504T>G (p.Leu1168=) c.54T>G (p.Leu18=) c.3405T>G (p.Leu1135=) c.3501T>G (p.Leu1167=) c.3351T>G (p.Leu1117=) | |
| 5 | g.128338091A>G | CA446310691 | FBN2 | n.288T>C n.369T>C c.3504T>C (p.Leu1168=) c.54T>C (p.Leu18=) c.3405T>C (p.Leu1135=) c.3501T>C (p.Leu1167=) c.3351T>C (p.Leu1117=) | |
| 5 | g.128338091A>T | CA446310692 | FBN2 | n.288T>A n.369T>A c.3504T>A (p.Leu1168=) c.54T>A (p.Leu18=) c.3405T>A (p.Leu1135=) c.3501T>A (p.Leu1167=) c.3351T>A (p.Leu1117=) | |
| 5 | g.128338092A= | CA1581270751 | FBN2 | n.287T= n.368T= c.3503T= (p.Leu1168=) c.53T= (p.Leu18=) c.3404T= (p.Leu1135=) c.3500T= (p.Leu1167=) c.3350T= (p.Leu1117=) | |
| 5 | g.128338092A>C | CA360759483 | FBN2 | n.287T>G n.368T>G c.3503T>G (p.Leu1168Arg) c.53T>G (p.Leu18Arg) c.3404T>G (p.Leu1135Arg) c.3500T>G (p.Leu1167Arg) c.3350T>G (p.Leu1117Arg) | |
| 5 | g.128338092A>G | CA3395208 | FBN2 | n.287T>C n.368T>C c.3503T>C (p.Leu1168Pro) c.53T>C (p.Leu18Pro) c.3404T>C (p.Leu1135Pro) c.3500T>C (p.Leu1167Pro) c.3350T>C (p.Leu1117Pro) | dbSNP ExAC |
| 5 | g.128338092A>T | CA360759485 | FBN2 | n.287T>A n.368T>A c.3503T>A (p.Leu1168His) c.53T>A (p.Leu18His) c.3404T>A (p.Leu1135His) c.3500T>A (p.Leu1167His) c.3350T>A (p.Leu1117His) | |
| 5 | g.128338093G>A | CA360759491 | FBN2 | n.286C>T n.367C>T c.3502C>T (p.Leu1168Phe) c.52C>T (p.Leu18Phe) c.3403C>T (p.Leu1135Phe) c.3499C>T (p.Leu1167Phe) c.3349C>T (p.Leu1117Phe) | |
| 5 | g.128338093G>C | CA360759490 | FBN2 | n.286C>G n.367C>G c.3502C>G (p.Leu1168Val) c.52C>G (p.Leu18Val) c.3403C>G (p.Leu1135Val) c.3499C>G (p.Leu1167Val) c.3349C>G (p.Leu1117Val) | |
| 5 | g.128338093G>T | CA360759488 | FBN2 | n.286C>A n.367C>A c.3502C>A (p.Leu1168Ile) c.52C>A (p.Leu18Ile) c.3403C>A (p.Leu1135Ile) c.3499C>A (p.Leu1167Ile) c.3349C>A (p.Leu1117Ile) | |
| 5 | g.128338094G>A | CA446310696 | FBN2 | n.285C>T n.366C>T c.3501C>T (p.Leu1167=) c.51C>T (p.Leu17=) c.3402C>T (p.Leu1134=) c.3498C>T (p.Leu1166=) c.3348C>T (p.Leu1116=) | |
| 5 | g.128338094G>C | CA446310695 | FBN2 | n.285C>G n.366C>G c.3501C>G (p.Leu1167=) c.51C>G (p.Leu17=) c.3402C>G (p.Leu1134=) c.3498C>G (p.Leu1166=) c.3348C>G (p.Leu1116=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.128338094G>T | CA446310698 | FBN2 | n.285C>A n.366C>A c.3501C>A (p.Leu1167=) c.51C>A (p.Leu17=) c.3402C>A (p.Leu1134=) c.3498C>A (p.Leu1166=) c.3348C>A (p.Leu1116=) | |
| 5 | g.128338095A>C | CA360759497 | FBN2 | n.284T>G n.365T>G c.3500T>G (p.Leu1167Arg) c.50T>G (p.Leu17Arg) c.3401T>G (p.Leu1134Arg) c.3497T>G (p.Leu1166Arg) c.3347T>G (p.Leu1116Arg) | |
| 5 | g.128338095A>G | CA360759495 | FBN2 | n.284T>C n.365T>C c.3500T>C (p.Leu1167Pro) c.50T>C (p.Leu17Pro) c.3401T>C (p.Leu1134Pro) c.3497T>C (p.Leu1166Pro) c.3347T>C (p.Leu1116Pro) | |
| 5 | g.128338095A>T | CA360759498 | FBN2 | n.284T>A n.365T>A c.3500T>A (p.Leu1167His) c.50T>A (p.Leu17His) c.3401T>A (p.Leu1134His) c.3497T>A (p.Leu1166His) c.3347T>A (p.Leu1116His) | |
| 5 | g.128338096G>A | CA360759499 | FBN2 | n.283C>T n.364C>T c.3499C>T (p.Leu1167Phe) c.49C>T (p.Leu17Phe) c.3400C>T (p.Leu1134Phe) c.3496C>T (p.Leu1166Phe) c.3346C>T (p.Leu1116Phe) | |
| 5 | g.128338096G>C | CA3395209 | FBN2 | n.283C>G n.364C>G c.3499C>G (p.Leu1167Val) c.49C>G (p.Leu17Val) c.3400C>G (p.Leu1134Val) c.3496C>G (p.Leu1166Val) c.3346C>G (p.Leu1116Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128338096G= | CA1581270752 | FBN2 | n.283C= n.364C= c.3499C= (p.Leu1167=) c.49C= (p.Leu17=) c.3400C= (p.Leu1134=) c.3496C= (p.Leu1166=) c.3346C= (p.Leu1116=) | |
| 5 | g.128338096G>T | CA360759500 | FBN2 | n.283C>A n.364C>A c.3499C>A (p.Leu1167Ile) c.49C>A (p.Leu17Ile) c.3400C>A (p.Leu1134Ile) c.3496C>A (p.Leu1166Ile) c.3346C>A (p.Leu1116Ile) | |
| 5 | g.128338097A>C | CA446310704 | FBN2 | n.282T>G n.363T>G c.3498T>G (p.Pro1166=) c.48T>G (p.Pro16=) c.3399T>G (p.Pro1133=) c.3495T>G (p.Pro1165=) c.3345T>G (p.Pro1115=) | |
| 5 | g.128338097A>G | CA446310705 | FBN2 | n.282T>C n.363T>C c.3498T>C (p.Pro1166=) c.48T>C (p.Pro16=) c.3399T>C (p.Pro1133=) c.3495T>C (p.Pro1165=) c.3345T>C (p.Pro1115=) | gnomAD v4 |
| 5 | g.128338097A>T | CA446310707 | FBN2 | n.282T>A n.363T>A c.3498T>A (p.Pro1166=) c.48T>A (p.Pro16=) c.3399T>A (p.Pro1133=) c.3495T>A (p.Pro1165=) c.3345T>A (p.Pro1115=) | |
| 5 | g.128338098G>A | CA360759504 | FBN2 | n.281C>T n.362C>T c.3497C>T (p.Pro1166Leu) c.47C>T (p.Pro16Leu) c.3398C>T (p.Pro1133Leu) c.3494C>T (p.Pro1165Leu) c.3344C>T (p.Pro1115Leu) | gnomAD v4 |
| 5 | g.128338098G>C | CA360759508 | FBN2 | n.281C>G n.362C>G c.3497C>G (p.Pro1166Arg) c.47C>G (p.Pro16Arg) c.3398C>G (p.Pro1133Arg) c.3494C>G (p.Pro1165Arg) c.3344C>G (p.Pro1115Arg) | |
| 5 | g.128338098G>T | CA360759506 | FBN2 | n.281C>A n.362C>A c.3497C>A (p.Pro1166His) c.47C>A (p.Pro16His) c.3398C>A (p.Pro1133His) c.3494C>A (p.Pro1165His) c.3344C>A (p.Pro1115His) | |
| 5 | g.128338099G>A | CA360759510 | FBN2 | n.280C>T n.361C>T c.3496C>T (p.Pro1166Ser) c.46C>T (p.Pro16Ser) c.3397C>T (p.Pro1133Ser) c.3493C>T (p.Pro1165Ser) c.3343C>T (p.Pro1115Ser) | |
| 5 | g.128338099G>C | CA360759519 | FBN2 | n.280C>G n.361C>G c.3496C>G (p.Pro1166Ala) c.46C>G (p.Pro16Ala) c.3397C>G (p.Pro1133Ala) c.3493C>G (p.Pro1165Ala) c.3343C>G (p.Pro1115Ala) | |
| 5 | g.128338099G= | CA1581270753 | FBN2 | n.280C= n.361C= c.3496C= (p.Pro1166=) c.46C= (p.Pro16=) c.3397C= (p.Pro1133=) c.3493C= (p.Pro1165=) c.3343C= (p.Pro1115=) | |
| 5 | g.128338099G>T | CA360759518 | FBN2 | n.280C>A n.361C>A c.3496C>A (p.Pro1166Thr) c.46C>A (p.Pro16Thr) c.3397C>A (p.Pro1133Thr) c.3493C>A (p.Pro1165Thr) c.3343C>A (p.Pro1115Thr) | dbSNP gnomAD v4 |
| 5 | g.128338100G>A | CA446310712 | FBN2 | n.279C>T n.360C>T c.3495C>T (p.Asn1165=) c.45C>T (p.Asn15=) c.3396C>T (p.Asn1132=) c.3492C>T (p.Asn1164=) c.3342C>T (p.Asn1114=) | dbSNP |
| 5 | g.128338100G>C | CA360759522 | FBN2 | n.279C>G n.360C>G c.3495C>G (p.Asn1165Lys) c.45C>G (p.Asn15Lys) c.3396C>G (p.Asn1132Lys) c.3492C>G (p.Asn1164Lys) c.3342C>G (p.Asn1114Lys) | ClinVar dbSNP |
| 5 | g.128338100G= | CA1581270754 | FBN2 | n.279C= n.360C= c.3495C= (p.Asn1165=) c.45C= (p.Asn15=) c.3396C= (p.Asn1132=) c.3492C= (p.Asn1164=) c.3342C= (p.Asn1114=) | |
| 5 | g.128338100G>T | CA3395210 | FBN2 | n.279C>A n.360C>A c.3495C>A (p.Asn1165Lys) c.45C>A (p.Asn15Lys) c.3396C>A (p.Asn1132Lys) c.3492C>A (p.Asn1164Lys) c.3342C>A (p.Asn1114Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128338101T>A | CA360759526 | FBN2 | n.278A>T n.359A>T c.3494A>T (p.Asn1165Ile) c.44A>T (p.Asn15Ile) c.3395A>T (p.Asn1132Ile) c.3491A>T (p.Asn1164Ile) c.3341A>T (p.Asn1114Ile) | |
| 5 | g.128338101T>C | CA360759527 | FBN2 | n.278A>G n.359A>G c.3494A>G (p.Asn1165Ser) c.44A>G (p.Asn15Ser) c.3395A>G (p.Asn1132Ser) c.3491A>G (p.Asn1164Ser) c.3341A>G (p.Asn1114Ser) | gnomAD v4 |
| 5 | g.128338101T>G | CA360759529 | FBN2 | n.278A>C n.359A>C c.3494A>C (p.Asn1165Thr) c.44A>C (p.Asn15Thr) c.3395A>C (p.Asn1132Thr) c.3491A>C (p.Asn1164Thr) c.3341A>C (p.Asn1114Thr) | |
| 5 | g.128338102T>A | CA360759532 | FBN2 | n.277A>T n.358A>T c.3493A>T (p.Asn1165Tyr) c.43A>T (p.Asn15Tyr) c.3394A>T (p.Asn1132Tyr) c.3490A>T (p.Asn1164Tyr) c.3340A>T (p.Asn1114Tyr) | |
| 5 | g.128338102T>C | CA360759533 | FBN2 | n.277A>G n.358A>G c.3493A>G (p.Asn1165Asp) c.43A>G (p.Asn15Asp) c.3394A>G (p.Asn1132Asp) c.3490A>G (p.Asn1164Asp) c.3340A>G (p.Asn1114Asp) | COSMIC |
| 5 | g.128338102T>G | CA360759534 | FBN2 | n.277A>C n.358A>C c.3493A>C (p.Asn1165His) c.43A>C (p.Asn15His) c.3394A>C (p.Asn1132His) c.3490A>C (p.Asn1164His) c.3340A>C (p.Asn1114His) | |
| 5 | g.128338103A>C | CA446310719 | FBN2 | n.276T>G n.357T>G c.3492T>G (p.Arg1164=) c.42T>G (p.Arg14=) c.3393T>G (p.Arg1131=) c.3489T>G (p.Arg1163=) c.3339T>G (p.Arg1113=) | |
| 5 | g.128338103A>G | CA446310721 | FBN2 | n.276T>C n.357T>C c.3492T>C (p.Arg1164=) c.42T>C (p.Arg14=) c.3393T>C (p.Arg1131=) c.3489T>C (p.Arg1163=) c.3339T>C (p.Arg1113=) | |
| 5 | g.128338103A>T | CA446310722 | FBN2 | n.276T>A n.357T>A c.3492T>A (p.Arg1164=) c.42T>A (p.Arg14=) c.3393T>A (p.Arg1131=) c.3489T>A (p.Arg1163=) c.3339T>A (p.Arg1113=) | |
| 5 | g.128338104C>A | CA360759536 | FBN2 | n.275G>T n.356G>T c.3491G>T (p.Arg1164Leu) c.41G>T (p.Arg14Leu) c.3392G>T (p.Arg1131Leu) c.3488G>T (p.Arg1163Leu) c.3338G>T (p.Arg1113Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128338104C= | CA1581270755 | FBN2 | n.275G= n.356G= c.3491G= (p.Arg1164=) c.41G= (p.Arg14=) c.3392G= (p.Arg1131=) c.3488G= (p.Arg1163=) c.3338G= (p.Arg1113=) | |
| 5 | g.128338104C>G | CA360759538 | FBN2 | n.275G>C n.356G>C c.3491G>C (p.Arg1164Pro) c.41G>C (p.Arg14Pro) c.3392G>C (p.Arg1131Pro) c.3488G>C (p.Arg1163Pro) c.3338G>C (p.Arg1113Pro) | |
| 5 | g.128338104C>T | CA360759539 | FBN2 | n.275G>A n.356G>A c.3491G>A (p.Arg1164His) c.41G>A (p.Arg14His) c.3392G>A (p.Arg1131His) c.3488G>A (p.Arg1163His) c.3338G>A (p.Arg1113His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128338105G>A | CA10587614 | FBN2 | n.274C>T n.355C>T c.3490C>T (p.Arg1164Cys) c.40C>T (p.Arg14Cys) c.3391C>T (p.Arg1131Cys) c.3487C>T (p.Arg1163Cys) c.3337C>T (p.Arg1113Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.128338105G>C | CA360759541 | FBN2 | n.274C>G n.355C>G c.3490C>G (p.Arg1164Gly) c.40C>G (p.Arg14Gly) c.3391C>G (p.Arg1131Gly) c.3487C>G (p.Arg1163Gly) c.3337C>G (p.Arg1113Gly) | gnomAD v4 |
| 5 | g.128338105G= | CA1581270756 | FBN2 | n.274C= n.355C= c.3490C= (p.Arg1164=) c.40C= (p.Arg14=) c.3391C= (p.Arg1131=) c.3487C= (p.Arg1163=) c.3337C= (p.Arg1113=) | |
| 5 | g.128338105G>T | CA360759543 | FBN2 | n.274C>A n.355C>A c.3490C>A (p.Arg1164Ser) c.40C>A (p.Arg14Ser) c.3391C>A (p.Arg1131Ser) c.3487C>A (p.Arg1163Ser) c.3337C>A (p.Arg1113Ser) | |
| 5 | g.128338106T>A | CA360759546 | FBN2 | n.273A>T n.354A>T c.3489A>T (p.Glu1163Asp) c.39A>T (p.Glu13Asp) c.3390A>T (p.Glu1130Asp) c.3486A>T (p.Glu1162Asp) c.3336A>T (p.Glu1112Asp) | |
| 5 | g.128338106T>C | CA446310728 | FBN2 | n.273A>G n.354A>G c.3489A>G (p.Glu1163=) c.39A>G (p.Glu13=) c.3390A>G (p.Glu1130=) c.3486A>G (p.Glu1162=) c.3336A>G (p.Glu1112=) | gnomAD v4 |
| 5 | g.128338106T>G | CA360759548 | FBN2 | n.273A>C n.354A>C c.3489A>C (p.Glu1163Asp) c.39A>C (p.Glu13Asp) c.3390A>C (p.Glu1130Asp) c.3486A>C (p.Glu1162Asp) c.3336A>C (p.Glu1112Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128338106T= | CA1581270757 | FBN2 | n.273A= n.354A= c.3489A= (p.Glu1163=) c.39A= (p.Glu13=) c.3390A= (p.Glu1130=) c.3486A= (p.Glu1162=) c.3336A= (p.Glu1112=) | |
| 5 | g.128338107T>A | CA360759550 | FBN2 | n.272A>T n.353A>T c.3488A>T (p.Glu1163Val) c.38A>T (p.Glu13Val) c.3389A>T (p.Glu1130Val) c.3485A>T (p.Glu1162Val) c.3335A>T (p.Glu1112Val) | COSMIC COSMIC |
| 5 | g.128338107T>C | CA360759551 | FBN2 | n.272A>G n.353A>G c.3488A>G (p.Glu1163Gly) c.38A>G (p.Glu13Gly) c.3389A>G (p.Glu1130Gly) c.3485A>G (p.Glu1162Gly) c.3335A>G (p.Glu1112Gly) | |
| 5 | g.128338107T>G | CA360759552 | FBN2 | n.272A>C n.353A>C c.3488A>C (p.Glu1163Ala) c.38A>C (p.Glu13Ala) c.3389A>C (p.Glu1130Ala) c.3485A>C (p.Glu1162Ala) c.3335A>C (p.Glu1112Ala) | |
| 5 | g.128338108C>A | CA360759553 | FBN2 | n.271G>T n.352G>T c.3487G>T (p.Glu1163Ter) c.37G>T (p.Glu13Ter) c.3388G>T (p.Glu1130Ter) c.3484G>T (p.Glu1162Ter) c.3334G>T (p.Glu1112Ter) | |
| 5 | g.128338108C>G | CA360759554 | FBN2 | n.271G>C n.352G>C c.3487G>C (p.Glu1163Gln) c.37G>C (p.Glu13Gln) c.3388G>C (p.Glu1130Gln) c.3484G>C (p.Glu1162Gln) c.3334G>C (p.Glu1112Gln) | |
| 5 | g.128338108C>T | CA360759555 | FBN2 | n.271G>A n.352G>A c.3487G>A (p.Glu1163Lys) c.37G>A (p.Glu13Lys) c.3388G>A (p.Glu1130Lys) c.3484G>A (p.Glu1162Lys) c.3334G>A (p.Glu1112Lys) | |
| 5 | g.128338109A= | CA1581270758 | FBN2 | n.270T= n.351T= c.3486T= (p.Cys1162=) c.36T= (p.Cys12=) c.3387T= (p.Cys1129=) c.3483T= (p.Cys1161=) c.3333T= (p.Cys1111=) | |
| 5 | g.128338109A>C | CA360759557 | FBN2 | n.270T>G n.351T>G c.3486T>G (p.Cys1162Trp) c.36T>G (p.Cys12Trp) c.3387T>G (p.Cys1129Trp) c.3483T>G (p.Cys1161Trp) c.3333T>G (p.Cys1111Trp) | ClinVar dbSNP |
| 5 | g.128338109A>G | CA446310733 | FBN2 | n.270T>C n.351T>C c.3486T>C (p.Cys1162=) c.36T>C (p.Cys12=) c.3387T>C (p.Cys1129=) c.3483T>C (p.Cys1161=) c.3333T>C (p.Cys1111=) | |
| 5 | g.128338109A>T | CA360759558 | FBN2 | n.270T>A n.351T>A c.3486T>A (p.Cys1162Ter) c.36T>A (p.Cys12Ter) c.3387T>A (p.Cys1129Ter) c.3483T>A (p.Cys1161Ter) c.3333T>A (p.Cys1111Ter) | |
| 5 | g.128338110C>A | CA360759562 | FBN2 | n.269G>T n.350G>T c.3485G>T (p.Cys1162Phe) c.35G>T (p.Cys12Phe) c.3386G>T (p.Cys1129Phe) c.3482G>T (p.Cys1161Phe) c.3332G>T (p.Cys1111Phe) | |
| 5 | g.128338110C>G | CA360759563 | FBN2 | n.269G>C n.350G>C c.3485G>C (p.Cys1162Ser) c.35G>C (p.Cys12Ser) c.3386G>C (p.Cys1129Ser) c.3482G>C (p.Cys1161Ser) c.3332G>C (p.Cys1111Ser) | |
| 5 | g.128338110C>T | CA360759561 | FBN2 | n.269G>A n.350G>A c.3485G>A (p.Cys1162Tyr) c.35G>A (p.Cys12Tyr) c.3386G>A (p.Cys1129Tyr) c.3482G>A (p.Cys1161Tyr) c.3332G>A (p.Cys1111Tyr) | |
| 5 | g.128338111A= | CA1581270759 | FBN2 | n.268T= n.349T= c.3484T= (p.Cys1162=) c.34T= (p.Cys12=) c.3385T= (p.Cys1129=) c.3481T= (p.Cys1161=) c.3331T= (p.Cys1111=) | |
| 5 | g.128338111A>C | CA360759564 | FBN2 | n.268T>G n.349T>G c.3484T>G (p.Cys1162Gly) c.34T>G (p.Cys12Gly) c.3385T>G (p.Cys1129Gly) c.3481T>G (p.Cys1161Gly) c.3331T>G (p.Cys1111Gly) | |
| 5 | g.128338111A>G | CA360759566 | FBN2 | n.268T>C n.349T>C c.3484T>C (p.Cys1162Arg) c.34T>C (p.Cys12Arg) c.3385T>C (p.Cys1129Arg) c.3481T>C (p.Cys1161Arg) c.3331T>C (p.Cys1111Arg) | ClinVar dbSNP |
| 5 | g.128338111A>T | CA360759568 | FBN2 | n.268T>A n.349T>A c.3484T>A (p.Cys1162Ser) c.34T>A (p.Cys12Ser) c.3385T>A (p.Cys1129Ser) c.3481T>A (p.Cys1161Ser) c.3331T>A (p.Cys1111Ser) | |
| 5 | g.128338112T>A | CA360759570 | FBN2 | n.267A>T n.348A>T c.3483A>T (p.Glu1161Asp) c.33A>T (p.Glu11Asp) c.3384A>T (p.Glu1128Asp) c.3480A>T (p.Glu1160Asp) c.3330A>T (p.Glu1110Asp) | |
| 5 | g.128338112T>C | CA3395211 | FBN2 | n.267A>G n.348A>G c.3483A>G (p.Glu1161=) c.33A>G (p.Glu11=) c.3384A>G (p.Glu1128=) c.3480A>G (p.Glu1160=) c.3330A>G (p.Glu1110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128338112T>G | CA360759574 | FBN2 | n.267A>C n.348A>C c.3483A>C (p.Glu1161Asp) c.33A>C (p.Glu11Asp) c.3384A>C (p.Glu1128Asp) c.3480A>C (p.Glu1160Asp) c.3330A>C (p.Glu1110Asp) | |
| 5 | g.128338112T= | CA1581270760 | FBN2 | n.267A= n.348A= c.3483A= (p.Glu1161=) c.33A= (p.Glu11=) c.3384A= (p.Glu1128=) c.3480A= (p.Glu1160=) c.3330A= (p.Glu1110=) | |
| 5 | g.128338113dup | CA2675117527 | FBN2 | n.267dup n.348dup c.3483dup (p.Cys1162MetfsTer2) c.33dup (p.Cys12MetfsTer2) c.3384dup (p.Cys1129MetfsTer2) c.3480dup (p.Cys1161MetfsTer2) c.3330dup (p.Cys1111MetfsTer2) | gnomAD v4 |
| 5 | g.128338113T>A | CA360759576 | FBN2 | n.266A>T n.347A>T c.3482A>T (p.Glu1161Val) c.32A>T (p.Glu11Val) c.3383A>T (p.Glu1128Val) c.3479A>T (p.Glu1160Val) c.3329A>T (p.Glu1110Val) | |
| 5 | g.128338113T>C | CA360759578 | FBN2 | n.266A>G n.347A>G c.3482A>G (p.Glu1161Gly) c.32A>G (p.Glu11Gly) c.3383A>G (p.Glu1128Gly) c.3479A>G (p.Glu1160Gly) c.3329A>G (p.Glu1110Gly) | ClinVar |
| 5 | g.128338113T>G | CA360759579 | FBN2 | n.266A>C n.347A>C c.3482A>C (p.Glu1161Ala) c.32A>C (p.Glu11Ala) c.3383A>C (p.Glu1128Ala) c.3479A>C (p.Glu1160Ala) c.3329A>C (p.Glu1110Ala) | |
| 5 | g.128338114C>A | CA360759582 | FBN2 | n.265G>T n.346G>T c.3481G>T (p.Glu1161Ter) c.31G>T (p.Glu11Ter) c.3382G>T (p.Glu1128Ter) c.3478G>T (p.Glu1160Ter) c.3328G>T (p.Glu1110Ter) | gnomAD v4 |
| 5 | g.128338114C= | CA1581270761 | FBN2 | n.265G= n.346G= c.3481G= (p.Glu1161=) c.31G= (p.Glu11=) c.3382G= (p.Glu1128=) c.3478G= (p.Glu1160=) c.3328G= (p.Glu1110=) | |
| 5 | g.128338114C>G | CA360759584 | FBN2 | n.265G>C n.346G>C c.3481G>C (p.Glu1161Gln) c.31G>C (p.Glu11Gln) c.3382G>C (p.Glu1128Gln) c.3478G>C (p.Glu1160Gln) c.3328G>C (p.Glu1110Gln) | |
| 5 | g.128338114C>T | CA360759585 | FBN2 | n.265G>A n.346G>A c.3481G>A (p.Glu1161Lys) c.31G>A (p.Glu11Lys) c.3382G>A (p.Glu1128Lys) c.3478G>A (p.Glu1160Lys) c.3328G>A (p.Glu1110Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.128338115G>A | CA3395212 | FBN2 | n.264C>T n.345C>T c.3480C>T (p.Asp1160=) c.30C>T (p.Asp10=) c.3381C>T (p.Asp1127=) c.3477C>T (p.Asp1159=) c.3327C>T (p.Asp1109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128338115G>C | CA360759588 | FBN2 | n.264C>G n.345C>G c.3480C>G (p.Asp1160Glu) c.30C>G (p.Asp10Glu) c.3381C>G (p.Asp1127Glu) c.3477C>G (p.Asp1159Glu) c.3327C>G (p.Asp1109Glu) | |
| 5 | g.128338115G= | CA1581270762 | FBN2 | n.264C= n.345C= c.3480C= (p.Asp1160=) c.30C= (p.Asp10=) c.3381C= (p.Asp1127=) c.3477C= (p.Asp1159=) c.3327C= (p.Asp1109=) | |
| 5 | g.128338115G>T | CA127014943 | FBN2 | n.264C>A n.345C>A c.3480C>A (p.Asp1160Glu) c.30C>A (p.Asp10Glu) c.3381C>A (p.Asp1127Glu) c.3477C>A (p.Asp1159Glu) c.3327C>A (p.Asp1109Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128338116T>A | CA360759590 | FBN2 | n.263A>T n.344A>T c.3479A>T (p.Asp1160Val) c.29A>T (p.Asp10Val) c.3380A>T (p.Asp1127Val) c.3476A>T (p.Asp1159Val) c.3326A>T (p.Asp1109Val) | |
| 5 | g.128338116T>C | CA360759592 | FBN2 | n.263A>G n.344A>G c.3479A>G (p.Asp1160Gly) c.29A>G (p.Asp10Gly) c.3380A>G (p.Asp1127Gly) c.3476A>G (p.Asp1159Gly) c.3326A>G (p.Asp1109Gly) | |
| 5 | g.128338116T>G | CA360759594 | FBN2 | n.263A>C n.344A>C c.3479A>C (p.Asp1160Ala) c.29A>C (p.Asp10Ala) c.3380A>C (p.Asp1127Ala) c.3476A>C (p.Asp1159Ala) c.3326A>C (p.Asp1109Ala) | |
| 5 | g.128338117C>A | CA360759595 | FBN2 | n.262G>T n.343G>T c.3478G>T (p.Asp1160Tyr) c.28G>T (p.Asp10Tyr) c.3379G>T (p.Asp1127Tyr) c.3475G>T (p.Asp1159Tyr) c.3325G>T (p.Asp1109Tyr) | |
| 5 | g.128338117C>G | CA360759597 | FBN2 | n.262G>C n.343G>C c.3478G>C (p.Asp1160His) c.28G>C (p.Asp10His) c.3379G>C (p.Asp1127His) c.3475G>C (p.Asp1159His) c.3325G>C (p.Asp1109His) | |
| 5 | g.128338117C>T | CA360759598 | FBN2 | n.262G>A n.343G>A c.3478G>A (p.Asp1160Asn) c.28G>A (p.Asp10Asn) c.3379G>A (p.Asp1127Asn) c.3475G>A (p.Asp1159Asn) c.3325G>A (p.Asp1109Asn) | |
| 5 | g.128338118A= | CA1581270763 | FBN2 | n.261T= n.342T= c.3477T= (p.Ile1159=) c.27T= (p.Ile9=) c.3378T= (p.Ile1126=) c.3474T= (p.Ile1158=) c.3324T= (p.Ile1108=) | |
| 5 | g.128338118A>C | CA3395213 | FBN2 | n.261T>G n.342T>G c.3477T>G (p.Ile1159Met) c.27T>G (p.Ile9Met) c.3378T>G (p.Ile1126Met) c.3474T>G (p.Ile1158Met) c.3324T>G (p.Ile1108Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128338118A>G | CA446310743 | FBN2 | n.261T>C n.342T>C c.3477T>C (p.Ile1159=) c.27T>C (p.Ile9=) c.3378T>C (p.Ile1126=) c.3474T>C (p.Ile1158=) c.3324T>C (p.Ile1108=) | gnomAD v4 |
| 5 | g.128338118A>T | CA446310744 | FBN2 | n.261T>A n.342T>A c.3477T>A (p.Ile1159=) c.27T>A (p.Ile9=) c.3378T>A (p.Ile1126=) c.3474T>A (p.Ile1158=) c.3324T>A (p.Ile1108=) | |
| 5 | g.128338119A= | CA1581270764 | FBN2 | n.260T= n.341T= c.3476T= (p.Ile1159=) c.26T= (p.Ile9=) c.3377T= (p.Ile1126=) c.3473T= (p.Ile1158=) c.3323T= (p.Ile1108=) | |
| 5 | g.128338119A>C | CA360759601 | FBN2 | n.260T>G n.341T>G c.3476T>G (p.Ile1159Ser) c.26T>G (p.Ile9Ser) c.3377T>G (p.Ile1126Ser) c.3473T>G (p.Ile1158Ser) c.3323T>G (p.Ile1108Ser) | |
| 5 | g.128338119A>G | CA3395214 | FBN2 | n.260T>C n.341T>C c.3476T>C (p.Ile1159Thr) c.26T>C (p.Ile9Thr) c.3377T>C (p.Ile1126Thr) c.3473T>C (p.Ile1158Thr) c.3323T>C (p.Ile1108Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128338119A>T | CA360759604 | FBN2 | n.260T>A n.341T>A c.3476T>A (p.Ile1159Asn) c.26T>A (p.Ile9Asn) c.3377T>A (p.Ile1126Asn) c.3473T>A (p.Ile1158Asn) c.3323T>A (p.Ile1108Asn) | COSMIC COSMIC |
| 5 | g.128338120T>A | CA360759605 | FBN2 | n.259A>T n.340A>T c.3475A>T (p.Ile1159Phe) c.25A>T (p.Ile9Phe) c.3376A>T (p.Ile1126Phe) c.3472A>T (p.Ile1158Phe) c.3322A>T (p.Ile1108Phe) | ClinVar dbSNP |
| 5 | g.128338120T>C | CA3395215 | FBN2 | n.259A>G n.340A>G c.3475A>G (p.Ile1159Val) c.25A>G (p.Ile9Val) c.3376A>G (p.Ile1126Val) c.3472A>G (p.Ile1158Val) c.3322A>G (p.Ile1108Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128338120T>G | CA360759608 | FBN2 | n.259A>C n.340A>C c.3475A>C (p.Ile1159Leu) c.25A>C (p.Ile9Leu) c.3376A>C (p.Ile1126Leu) c.3472A>C (p.Ile1158Leu) c.3322A>C (p.Ile1108Leu) | |
| 5 | g.128338120T= | CA1581270765 | FBN2 | n.259A= n.340A= c.3475A= (p.Ile1159=) c.25A= (p.Ile9=) c.3376A= (p.Ile1126=) c.3472A= (p.Ile1158=) c.3322A= (p.Ile1108=) | |
| 5 | g.128338121G>A | CA446310745 | FBN2 | n.258C>T n.339C>T c.3474C>T (p.Asp1158=) c.24C>T (p.Asp8=) c.3375C>T (p.Asp1125=) c.3471C>T (p.Asp1157=) c.3321C>T (p.Asp1107=) | ClinVar gnomAD v4 |
| 5 | g.128338121G>C | CA360759612 | FBN2 | n.258C>G n.339C>G c.3474C>G (p.Asp1158Glu) c.24C>G (p.Asp8Glu) c.3375C>G (p.Asp1125Glu) c.3471C>G (p.Asp1157Glu) c.3321C>G (p.Asp1107Glu) | |
| 5 | g.128338121G>T | CA360759609 | FBN2 | n.258C>A n.339C>A c.3474C>A (p.Asp1158Glu) c.24C>A (p.Asp8Glu) c.3375C>A (p.Asp1125Glu) c.3471C>A (p.Asp1157Glu) c.3321C>A (p.Asp1107Glu) | |
| 5 | g.128338122T>A | CA360759615 | FBN2 | n.257A>T n.338A>T c.3473A>T (p.Asp1158Val) c.23A>T (p.Asp8Val) c.3374A>T (p.Asp1125Val) c.3470A>T (p.Asp1157Val) c.3320A>T (p.Asp1107Val) | |
| 5 | g.128338122T>C | CA360759618 | FBN2 | n.257A>G n.338A>G c.3473A>G (p.Asp1158Gly) c.23A>G (p.Asp8Gly) c.3374A>G (p.Asp1125Gly) c.3470A>G (p.Asp1157Gly) c.3320A>G (p.Asp1107Gly) | |
| 5 | g.128338122T>G | CA360759617 | FBN2 | n.257A>C n.338A>C c.3473A>C (p.Asp1158Ala) c.23A>C (p.Asp8Ala) c.3374A>C (p.Asp1125Ala) c.3470A>C (p.Asp1157Ala) c.3320A>C (p.Asp1107Ala) | |
| 5 | g.128338123C>A | CA360759621 | FBN2 | n.257-1G>T n.338-1G>T c.3473-1G>T (n.3473-1G>T) c.23-1G>T (n.23-1G>T) c.3374-1G>T (n.3374-1G>T) c.3470-1G>T (n.3470-1G>T) c.3320-1G>T (n.3320-1G>T) | gnomAD v4 |
| 5 | g.128338123C>G | CA360759623 | FBN2 | n.257-1G>C n.338-1G>C c.3473-1G>C (n.3473-1G>C) c.23-1G>C (n.23-1G>C) c.3374-1G>C (n.3374-1G>C) c.3470-1G>C (n.3470-1G>C) c.3320-1G>C (n.3320-1G>C) | ClinVar dbSNP |
| 5 | g.128338123C>T | CA360759624 | FBN2 | n.257-1G>A n.338-1G>A c.3473-1G>A (n.3473-1G>A) c.23-1G>A (n.23-1G>A) c.3374-1G>A (n.3374-1G>A) c.3470-1G>A (n.3470-1G>A) c.3320-1G>A (n.3320-1G>A) |