| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128335543A= | CA1581269625 | FBN2 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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) | |
| 5 | g.128335547C= | CA1581269627 | FBN2 | 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 | 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 | 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) | gnomAD v3 gnomAD v4 |
| 5 | g.128335547_128335548delinsTT | CA645546436 | FBN2 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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) |