| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48485420_48485485del | CA2695220670 | FBN1 | c.3603_3668del (p.Ser1202_Cys1223del) n.2277_2342del c.637-10833_637-10768del (n.637-10833_637-10768del) | |
| 15 | g.48485424C>A | CA392324423 | FBN1 | c.3662G>T (p.Cys1221Phe) n.2336G>T c.637-10774G>T (n.637-10774G>T) | |
| 15 | g.48485424C= | CA2175511863 | FBN1 | c.3662G= (p.Cys1221=) n.2336G= c.637-10774G= (n.637-10774G=) | |
| 15 | g.48485424C>G | CA392324425 | FBN1 | c.3662G>C (p.Cys1221Ser) n.2336G>C c.637-10774G>C (n.637-10774G>C) | |
| 15 | g.48485424C>T | CA014391 | FBN1 | c.3662G>A (p.Cys1221Tyr) n.2336G>A c.637-10774G>A (n.637-10774G>A) | ClinVar dbSNP |
| 15 | g.48485425A>C | CA392324428 | FBN1 | c.3661T>G (p.Cys1221Gly) n.2335T>G c.637-10775T>G (n.637-10775T>G) | |
| 15 | g.48485425A>G | CA392324430 | FBN1 | c.3661T>C (p.Cys1221Arg) n.2335T>C c.637-10775T>C (n.637-10775T>C) | ClinVar dbSNP |
| 15 | g.48485425A>T | CA392324431 | FBN1 | c.3661T>A (p.Cys1221Ser) n.2335T>A c.637-10775T>A (n.637-10775T>A) | ClinVar dbSNP |
| 15 | g.48485425dup | CA2580089585 | FBN1 | c.3661dup (p.Cys1221LeufsTer2) n.2335dup c.637-10775dup (n.637-10775dup) | ClinVar |
| 15 | g.48485426T>A | CA392324433 | FBN1 | c.3660A>T (p.Glu1220Asp) n.2334A>T c.637-10776A>T (n.637-10776A>T) | |
| 15 | g.48485426T>C | CA490017496 | FBN1 | c.3660A>G (p.Glu1220=) n.2334A>G c.637-10776A>G (n.637-10776A>G) | gnomAD v4 |
| 15 | g.48485426T>G | CA392324435 | FBN1 | c.3660A>C (p.Glu1220Asp) n.2334A>C c.637-10776A>C (n.637-10776A>C) | |
| 15 | g.48485427T>A | CA392324440 | FBN1 | c.3659A>T (p.Glu1220Val) n.2333A>T c.637-10777A>T (n.637-10777A>T) | |
| 15 | g.48485427T>C | CA392324439 | FBN1 | c.3659A>G (p.Glu1220Gly) n.2333A>G c.637-10777A>G (n.637-10777A>G) | |
| 15 | g.48485427T>G | CA392324437 | FBN1 | c.3659A>C (p.Glu1220Ala) n.2333A>C c.637-10777A>C (n.637-10777A>C) | |
| 15 | g.48485428del | CA2695220671 | FBN1 | c.3658del (p.Glu1220AsnfsTer10) n.2332del c.637-10778del (n.637-10778del) | |
| 15 | g.48485428C>A | CA392324443 | FBN1 | c.3658G>T (p.Glu1220Ter) n.2332G>T c.637-10778G>T (n.637-10778G>T) | |
| 15 | g.48485428C>G | CA392324444 | FBN1 | c.3658G>C (p.Glu1220Gln) n.2332G>C c.637-10778G>C (n.637-10778G>C) | |
| 15 | g.48485428C>T | CA392324445 | FBN1 | c.3658G>A (p.Glu1220Lys) n.2332G>A c.637-10778G>A (n.637-10778G>A) | gnomAD v4 |
| 15 | g.48485429A= | CA2175511870 | FBN1 | c.3657T= (p.Tyr1219=) n.2331T= c.637-10779T= (n.637-10779T=) | |
| 15 | g.48485429A>C | CA392324447 | FBN1 | c.3657T>G (p.Tyr1219Ter) n.2331T>G c.637-10779T>G (n.637-10779T>G) | |
| 15 | g.48485429A>G | CA490017507 | FBN1 | c.3657T>C (p.Tyr1219=) n.2331T>C c.637-10779T>C (n.637-10779T>C) | |
| 15 | g.48485429A>T | CA392324448 | FBN1 | c.3657T>A (p.Tyr1219Ter) n.2331T>A c.637-10779T>A (n.637-10779T>A) | |
| 15 | g.48485430T>A | CA392324455 | FBN1 | c.3656A>T (p.Tyr1219Phe) n.2330A>T c.637-10780A>T (n.637-10780A>T) | |
| 15 | g.48485430T>C | CA392324453 | FBN1 | c.3656A>G (p.Tyr1219Cys) n.2330A>G c.637-10780A>G (n.637-10780A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48485430T>G | CA392324451 | FBN1 | c.3656A>C (p.Tyr1219Ser) n.2330A>C c.637-10780A>C (n.637-10780A>C) | ClinVar |
| 15 | g.48485430T= | CA2175511880 | FBN1 | c.3656A= (p.Tyr1219=) n.2330A= c.637-10780A= (n.637-10780A=) | |
| 15 | g.48485430dup | CA658798370 | FBN1 | c.3656dup (p.Tyr1219Ter) n.2330dup c.637-10780dup (n.637-10780dup) | ClinVar dbSNP |
| 15 | g.48485431A>C | CA392324457 | FBN1 | c.3655T>G (p.Tyr1219Asp) n.2329T>G c.637-10781T>G (n.637-10781T>G) | |
| 15 | g.48485431A>G | CA392324458 | FBN1 | c.3655T>C (p.Tyr1219His) n.2329T>C c.637-10781T>C (n.637-10781T>C) | gnomAD v4 |
| 15 | g.48485431A>T | CA392324459 | FBN1 | c.3655T>A (p.Tyr1219Asn) n.2329T>A c.637-10781T>A (n.637-10781T>A) | |
| 15 | g.48485432G>A | CA051324 | FBN1 | c.3654C>T (p.Ser1218=) n.2328C>T c.637-10782C>T (n.637-10782C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48485432G>C | CA392324463 | FBN1 | c.3654C>G (p.Ser1218Arg) n.2328C>G c.637-10782C>G (n.637-10782C>G) | ClinVar dbSNP |
| 15 | g.48485432G= | CA2175511891 | FBN1 | c.3654C= (p.Ser1218=) n.2328C= c.637-10782C= (n.637-10782C=) | |
| 15 | g.48485432G>T | CA392324464 | FBN1 | c.3654C>A (p.Ser1218Arg) n.2328C>A c.637-10782C>A (n.637-10782C>A) | |
| 15 | g.48485433C>A | CA392324467 | FBN1 | c.3653G>T (p.Ser1218Ile) n.2327G>T c.637-10783G>T (n.637-10783G>T) | |
| 15 | g.48485433C= | CA2175511896 | FBN1 | c.3653G= (p.Ser1218=) n.2327G= c.637-10783G= (n.637-10783G=) | |
| 15 | g.48485433C>G | CA392324470 | FBN1 | c.3653G>C (p.Ser1218Thr) n.2327G>C c.637-10783G>C (n.637-10783G>C) | |
| 15 | g.48485433C>T | CA392324469 | FBN1 | c.3653G>A (p.Ser1218Asn) n.2327G>A c.637-10783G>A (n.637-10783G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48485434T>A | CA392324473 | FBN1 | c.3652A>T (p.Ser1218Cys) n.2326A>T c.637-10784A>T (n.637-10784A>T) | |
| 15 | g.48485434T>C | CA051321 | FBN1 | c.3652A>G (p.Ser1218Gly) n.2326A>G c.637-10784A>G (n.637-10784A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48485434T>G | CA392324477 | FBN1 | c.3652A>C (p.Ser1218Arg) n.2326A>C c.637-10784A>C (n.637-10784A>C) | |
| 15 | g.48485434T= | CA2175511899 | FBN1 | c.3652A= (p.Ser1218=) n.2326A= c.637-10784A= (n.637-10784A=) | |
| 15 | g.48485435G>A | CA490017541 | FBN1 | c.3651C>T (p.Gly1217=) n.2325C>T c.637-10785C>T (n.637-10785C>T) | |
| 15 | g.48485435G>C | CA490017552 | FBN1 | c.3651C>G (p.Gly1217=) n.2325C>G c.637-10785C>G (n.637-10785C>G) | |
| 15 | g.48485435G>T | CA490017544 | FBN1 | c.3651C>A (p.Gly1217=) n.2325C>A c.637-10785C>A (n.637-10785C>A) | |
| 15 | g.48485436C>A | CA392324479 | FBN1 | c.3650G>T (p.Gly1217Val) n.2324G>T c.637-10786G>T (n.637-10786G>T) | |
| 15 | g.48485436C= | CA2175511900 | FBN1 | c.3650G= (p.Gly1217=) n.2324G= c.637-10786G= (n.637-10786G=) | |
| 15 | g.48485436C>G | CA392324481 | FBN1 | c.3650G>C (p.Gly1217Ala) n.2324G>C c.637-10786G>C (n.637-10786G>C) | |
| 15 | g.48485436C>T | CA392324483 | FBN1 | c.3650G>A (p.Gly1217Asp) n.2324G>A c.637-10786G>A (n.637-10786G>A) | ClinVar dbSNP |