| 15 | g.48537801C>A | CA392446185 | FBN1 | c.546G>T (p.Arg182Ser)
| |
| 15 | g.48537801C>G | CA392446186 | FBN1 | c.546G>C (p.Arg182Ser)
| gnomAD v4 |
| 15 | g.48537801C>T | CA490090230 | FBN1 | c.546G>A (p.Arg182=)
| gnomAD v4 |
| 15 | g.48537802C>A | CA392446187 | FBN1 | c.545G>T (p.Arg182Met)
| |
| 15 | g.48537802C= | CA2175539634 | FBN1 | c.545G= (p.Arg182=)
| |
| 15 | g.48537802C>G | CA392446189 | FBN1 | c.545G>C (p.Arg182Thr)
| |
| 15 | g.48537802C>T | CA392446188 | FBN1 | c.545G>A (p.Arg182Lys)
| ClinVar dbSNP |
| 15 | g.48537803T>A | CA392446190 | FBN1 | c.544A>T (p.Arg182Trp)
| |
| 15 | g.48537803T>C | CA392446191 | FBN1 | c.544A>G (p.Arg182Gly)
| |
| 15 | g.48537803T>G | CA490090232 | FBN1 | c.544A>C (p.Arg182=)
| |
| 15 | g.48537804G>A | CA490090233 | FBN1 | c.543C>T (p.Tyr181=)
| ClinVar dbSNP |
| 15 | g.48537804G>C | CA392446192 | FBN1 | c.543C>G (p.Tyr181Ter)
| ClinVar dbSNP |
| 15 | g.48537804G= | CA2175539640 | FBN1 | c.543C= (p.Tyr181=)
| |
| 15 | g.48537804G>T | CA392446193 | FBN1 | c.543C>A (p.Tyr181Ter)
| |
| 15 | g.48537805T>A | CA392446194 | FBN1 | c.542A>T (p.Tyr181Phe)
| |
| 15 | g.48537805T>C | CA392446195 | FBN1 | c.542A>G (p.Tyr181Cys)
| |
| 15 | g.48537805T>G | CA392446196 | FBN1 | c.542A>C (p.Tyr181Ser)
| |
| 15 | g.48537806A>C | CA392446197 | FBN1 | c.541T>G (p.Tyr181Asp)
| |
| 15 | g.48537806A>G | CA392446198 | FBN1 | c.541T>C (p.Tyr181His)
| |
| 15 | g.48537806A>T | CA392446199 | FBN1 | c.541T>A (p.Tyr181Asn)
| |
| 15 | g.48537807A>C | CA392446200 | FBN1 | c.540T>G (p.Asp180Glu)
| |
| 15 | g.48537807A>G | CA490090238 | FBN1 | c.540T>C (p.Asp180=)
| |
| 15 | g.48537807A>T | CA392446201 | FBN1 | c.540T>A (p.Asp180Glu)
| |
| 15 | g.48537808T>A | CA392446204 | FBN1 | c.539A>T (p.Asp180Val)
| |
| 15 | g.48537808T>C | CA392446202 | FBN1 | c.539A>G (p.Asp180Gly)
| |
| 15 | g.48537808T>G | CA392446203 | FBN1 | c.539A>C (p.Asp180Ala)
| |
| 15 | g.48537809C>A | CA10603465 | FBN1 | c.539-1G>T (n.539-1G>T)
| ClinVar dbSNP |
| 15 | g.48537809C= | CA2175539646 | FBN1 | c.539-1G= (n.539-1G=)
| |
| 15 | g.48537809C>G | CA392446205 | FBN1 | c.539-1G>C (n.539-1G>C)
| |
| 15 | g.48537809C>T | CA015791 | FBN1 | c.539-1G>A (n.539-1G>A)
| ClinVar dbSNP |
| 15 | g.48537810T>A | CA392446206 | FBN1 | c.539-2A>T (n.539-2A>T)
| |
| 15 | g.48537810T>C | CA392446207 | FBN1 | c.539-2A>G (n.539-2A>G)
| ClinVar dbSNP |
| 15 | g.48537810T>G | CA392446208 | FBN1 | c.539-2A>C (n.539-2A>C)
| |
| 15 | g.48537818A= | CA2175539651 | FBN1 | c.539-10T= (n.539-10T=)
| |
| 15 | g.48537818A>G | CA054814 | FBN1 | c.539-10T>C (n.539-10T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48537819A>G | CA2628337612 | FBN1 | c.539-11T>C (n.539-11T>C)
| gnomAD v4 |
| 15 | g.48537820_48537821insTAATGAACACCAC | CA2531249833 | FBN1 | c.539-13_539-12insGTGGTGTTCATTA (n.539-13_539-12insGTGGTGTTCATTA)
| |
| 15 | g.48537821A= | CA2175539654 | FBN1 | c.539-13T= (n.539-13T=)
| |
| 15 | g.48537821A>C | CA2628337613 | FBN1 | c.539-13T>G (n.539-13T>G)
| gnomAD v4 |
| 15 | g.48537821A>G | CA054817 | FBN1 | c.539-13T>C (n.539-13T>C)
| dbSNP ExAC gnomAD v2 |
| 15 | g.48537822A>C | CA2628337614 | FBN1 | c.539-14T>G (n.539-14T>G)
| gnomAD v4 |
| 15 | g.48537822_48537823delinsAT | CA2175539655 | FBN1 | c.539-15_539-14delinsAT (n.539-15_539-14delinsAT)
| |
| 15 | g.48537823del | CA015782 | FBN1 | c.539-15del (n.539-15del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537823T>A | CA054828 | FBN1 | c.539-15A>T (n.539-15A>T)
| dbSNP ExAC gnomAD v4 |
| 15 | g.48537823T>C | CA2581215367 | FBN1 | c.539-15A>G (n.539-15A>G)
| |
| 15 | g.48537823T>G | CA2581215366 | FBN1 | c.539-15A>C (n.539-15A>C)
| |
| 15 | g.48537823T= | CA2175539659 | FBN1 | c.539-15A= (n.539-15A=)
| |
| 15 | g.48537828del | CA392446209 | FBN1 | c.539-16del (n.539-16del)
| |
| 15 | g.48537826A= | CA2175539662 | FBN1 | c.539-18T= (n.539-18T=)
| |
| 15 | g.48537826A>G | CA2175539663 | FBN1 | c.539-18T>C (n.539-18T>C)
| dbSNP |
| 15 | g.48537830C= | CA2175539665 | FBN1 | c.539-22G= (n.539-22G=)
| |
| 15 | g.48537830C>G | CA2175539666 | FBN1 | c.539-22G>C (n.539-22G>C)
| dbSNP |
| 15 | g.48537834T>A | CA2628337615 | FBN1 | c.539-26A>T (n.539-26A>T)
| gnomAD v4 |
| 15 | g.48537834T>C | CA2575717766 | FBN1 | c.539-26A>G (n.539-26A>G)
| gnomAD v4 |
| 15 | g.48537834T>G | CA2175539669 | FBN1 | c.539-26A>C (n.539-26A>C)
| dbSNP |
| 15 | g.48537834T= | CA2175539667 | FBN1 | c.539-26A= (n.539-26A=)
| |
| 15 | g.48537835G= | CA2175539670 | FBN1 | c.539-27C= (n.539-27C=)
| |
| 15 | g.48537835G>T | CA713405939 | FBN1 | c.539-27C>A (n.539-27C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537839dup | CA618011962 | FBN1 | c.539-28dup (n.539-28dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537841C>A | CA2730867511 | FBN1 | c.539-33G>T (n.539-33G>T)
| dbSNP |
| 15 | g.48537847A>G | CA2730867830 | FBN1 | c.539-39T>C (n.539-39T>C)
| dbSNP |
| 15 | g.48537848A>G | CA2628337616 | FBN1 | c.539-40T>C (n.539-40T>C)
| gnomAD v4 |
| 15 | g.48537849G>A | CA270013658 | FBN1 | c.539-41C>T (n.539-41C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537849G= | CA2175539674 | FBN1 | c.539-41C= (n.539-41C=)
| |
| 15 | g.48537850C= | CA2175539676 | FBN1 | c.539-42G= (n.539-42G=)
| |
| 15 | g.48537850C>T | CA969574508 | FBN1 | c.539-42G>A (n.539-42G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537857C>A | CA618011963 | FBN1 | c.539-49G>T (n.539-49G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537857C= | CA2175539679 | FBN1 | c.539-49G= (n.539-49G=)
| |
| 15 | g.48537857C>T | CA2175539678 | FBN1 | c.539-49G>A (n.539-49G>A)
| dbSNP |
| 15 | g.48537858A= | CA2175539682 | FBN1 | c.539-50T= (n.539-50T=)
| |
| 15 | g.48537858A>G | CA270013663 | FBN1 | c.539-50T>C (n.539-50T>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48537859dup | CA2628337617 | FBN1 | c.539-51dup (n.539-51dup)
| gnomAD v4 |
| 15 | g.48537860del | CA2730867833 | FBN1 | c.539-52del (n.539-52del)
| dbSNP |
| 15 | g.48537860C>A | CA2628337618 | FBN1 | c.539-52G>T (n.539-52G>T)
| gnomAD v4 |
| 15 | g.48537861A= | CA2175539684 | FBN1 | c.539-53T= (n.539-53T=)
| |
| 15 | g.48537861A>G | CA2175539685 | FBN1 | c.539-53T>C (n.539-53T>C)
| dbSNP gnomAD v4 |
| 15 | g.48537861_48537862insGATTTTTATTCTTTAT | CA2570321536 | FBN1 | c.539-54_539-53insATAAAGAATAAAAATC (n.539-54_539-53insATAAAGAATAAAAATC)
| |
| 15 | g.48537862T>C | CA713405946 | FBN1 | c.539-54A>G (n.539-54A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537862T= | CA2175539687 | FBN1 | c.539-54A= (n.539-54A=)
| |
| 15 | g.48537863G>A | CA2537806660 | FBN1 | c.539-55C>T (n.539-55C>T)
| |
| 15 | g.48537863G= | CA2175539689 | FBN1 | c.539-55C= (n.539-55C=)
| |
| 15 | g.48537863G>T | CA713405949 | FBN1 | c.539-55C>A (n.539-55C>A)
| dbSNP gnomAD v4 |
| 15 | g.48537864C= | CA2175539690 | FBN1 | c.539-56G= (n.539-56G=)
| |
| 15 | g.48537864C>T | CA2175539691 | FBN1 | c.539-56G>A (n.539-56G>A)
| dbSNP gnomAD v4 |
| 15 | g.48537865A>G | CA2575717769 | FBN1 | c.539-57T>C (n.539-57T>C)
| |
| 15 | g.48537868G>A | CA617942158 | FBN1 | c.539-60C>T (n.539-60C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537868G= | CA2175539693 | FBN1 | c.539-60C= (n.539-60C=)
| |
| 15 | g.48537868G>T | CA2575717770 | FBN1 | c.539-60C>A (n.539-60C>A)
| gnomAD v4 |
| 15 | g.48537871del | CA2575717771 | FBN1 | c.539-62del (n.539-62del)
| |
| 15 | g.48537871A= | CA2175539696 | FBN1 | c.539-63T= (n.539-63T=)
| |
| 15 | g.48537871A>G | CA969574516 | FBN1 | c.539-63T>C (n.539-63T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537872C>G | CA2730868018 | FBN1 | c.539-64G>C (n.539-64G>C)
| dbSNP |
| 15 | g.48537874G>A | CA2575717772 | FBN1 | c.539-66C>T (n.539-66C>T)
| gnomAD v4 |
| 15 | g.48537874G>T | CA2575717773 | FBN1 | c.539-66C>A (n.539-66C>A)
| gnomAD v4 |
| 15 | g.48537874_48537896delinsGCTGTGCTCCATCTTGCTTGACT | CA2175539698 | FBN1 | c.539-88_539-66delinsAGTCAAGCAAGATGGAGCACAGC (n.539-88_539-66delinsAGTCAAGCAAGATGGAGCACAGC)
| |
| 15 | g.48537876_48537897del | CA2175539699 | FBN1 | c.539-88_539-67del (n.539-88_539-67del)
| dbSNP |
| 15 | g.48537876T>G | CA2628337619 | FBN1 | c.539-68A>C (n.539-68A>C)
| gnomAD v4 |
| 15 | g.48537877G>T | CA2628337620 | FBN1 | c.539-69C>A (n.539-69C>A)
| gnomAD v4 |
| 15 | g.48537879G>A | CA2628337621 | FBN1 | c.539-71C>T (n.539-71C>T)
| gnomAD v4 |
| 15 | g.48537879G= | CA2175539700 | FBN1 | c.539-71C= (n.539-71C=)
| |
| 15 | g.48537879G>T | CA617942159 | FBN1 | c.539-71C>A (n.539-71C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537880C= | CA2175539702 | FBN1 | c.539-72G= (n.539-72G=)
| |
| 15 | g.48537880C>T | CA2175539703 | FBN1 | c.539-72G>A (n.539-72G>A)
| dbSNP gnomAD v4 |
| 15 | g.48537881T>C | CA2628337622 | FBN1 | c.539-73A>G (n.539-73A>G)
| gnomAD v4 |
| 15 | g.48537882C>A | CA2628337623 | FBN1 | c.539-74G>T (n.539-74G>T)
| gnomAD v4 |
| 15 | g.48537883C>A | CA2575717774 | FBN1 | c.539-75G>T (n.539-75G>T)
| |
| 15 | g.48537886C>A | CA2575717775 | FBN1 | c.539-78G>T (n.539-78G>T)
| gnomAD v4 |
| 15 | g.48537887T>C | CA2628337624 | FBN1 | c.539-79A>G (n.539-79A>G)
| gnomAD v4 |
| 15 | g.48537888T>C | CA2628337625 | FBN1 | c.539-80A>G (n.539-80A>G)
| gnomAD v4 |
| 15 | g.48537889G>A | CA2628337626 | FBN1 | c.539-81C>T (n.539-81C>T)
| gnomAD v4 |
| 15 | g.48537889G>T | CA2566530440 | FBN1 | c.539-81C>A (n.539-81C>A)
| gnomAD v4 |
| 15 | g.48537890C>A | CA2628337627 | FBN1 | c.539-82G>T (n.539-82G>T)
| gnomAD v4 |
| 15 | g.48537890C>T | CA2575717776 | FBN1 | c.539-82G>A (n.539-82G>A)
| gnomAD v4 |
| 15 | g.48537891T>A | CA2575717777 | FBN1 | c.539-83A>T (n.539-83A>T)
| |
| 15 | g.48537891T>C | CA2628337628 | FBN1 | c.539-83A>G (n.539-83A>G)
| gnomAD v4 |
| 15 | g.48537892T>A | CA2628337629 | FBN1 | c.539-84A>T (n.539-84A>T)
| gnomAD v4 |
| 15 | g.48537893G>C | CA713405959 | FBN1 | c.539-85C>G (n.539-85C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537893G= | CA2175539705 | FBN1 | c.539-85C= (n.539-85C=)
| |
| 15 | g.48537893G>T | CA2628337630 | FBN1 | c.539-85C>A (n.539-85C>A)
| gnomAD v4 |
| 15 | g.48537895C>T | CA2804072264 | FBN1 | c.539-87G>A (n.539-87G>A)
| |
| 15 | g.48537896T>C | CA2628337631 | FBN1 | c.539-88A>G (n.539-88A>G)
| gnomAD v4 |
| 15 | g.48537897C>A | CA2628337632 | FBN1 | c.539-89G>T (n.539-89G>T)
| gnomAD v4 |
| 15 | g.48537898C>A | CA2575717778 | FBN1 | c.539-90G>T (n.539-90G>T)
| gnomAD v4 |
| 15 | g.48537898C>G | CA2628337633 | FBN1 | c.539-90G>C (n.539-90G>C)
| gnomAD v4 |
| 15 | g.48537898C>T | CA2628337634 | FBN1 | c.539-90G>A (n.539-90G>A)
| gnomAD v4 |
| 15 | g.48537899A>C | CA2628337635 | FBN1 | c.539-91T>G (n.539-91T>G)
| gnomAD v4 |
| 15 | g.48537899A>G | CA2628337636 | FBN1 | c.539-91T>C (n.539-91T>C)
| gnomAD v4 |
| 15 | g.48537901A= | CA2175539707 | FBN1 | c.539-93T= (n.539-93T=)
| |
| 15 | g.48537901A>G | CA617942161 | FBN1 | c.539-93T>C (n.539-93T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
