| 15 | g.48537926_48537927del | CA2628337654 | FBN1 | c.539-119_539-118del (n.539-119_539-118del)
| gnomAD v4 |
| 15 | g.48537928T>A | CA2804072265 | FBN1 | c.539-120A>T (n.539-120A>T)
| |
| 15 | g.48537929C>A | CA2628337655 | FBN1 | c.539-121G>T (n.539-121G>T)
| gnomAD v4 |
| 15 | g.48537929C>G | CA2628337656 | FBN1 | c.539-121G>C (n.539-121G>C)
| gnomAD v4 |
| 15 | g.48537930A= | CA2175539722 | FBN1 | c.539-122T= (n.539-122T=)
| |
| 15 | g.48537930A>C | CA270013669 | FBN1 | c.539-122T>G (n.539-122T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537930A>G | CA2628337657 | FBN1 | c.539-122T>C (n.539-122T>C)
| gnomAD v4 |
| 15 | g.48537931T>A | CA2628337658 | FBN1 | c.539-123A>T (n.539-123A>T)
| gnomAD v4 |
| 15 | g.48537932G>A | CA2628337659 | FBN1 | c.539-124C>T (n.539-124C>T)
| gnomAD v4 |
| 15 | g.48537932G>T | CA2628337660 | FBN1 | c.539-124C>A (n.539-124C>A)
| dbSNP gnomAD v4 |
| 15 | g.48537933C>A | CA2628337661 | FBN1 | c.539-125G>T (n.539-125G>T)
| gnomAD v4 |
| 15 | g.48537933C>T | CA2628337662 | FBN1 | c.539-125G>A (n.539-125G>A)
| gnomAD v4 |
| 15 | g.48537934A>G | CA2628337663 | FBN1 | c.539-126T>C (n.539-126T>C)
| gnomAD v4 |
| 15 | g.48537936C>A | CA2628337664 | FBN1 | c.539-128G>T (n.539-128G>T)
| gnomAD v4 |
| 15 | g.48537936C= | CA2175539723 | FBN1 | c.539-128G= (n.539-128G=)
| |
| 15 | g.48537936C>G | CA2175539724 | FBN1 | c.539-128G>C (n.539-128G>C)
| dbSNP gnomAD v4 |
| 15 | g.48537938C>A | CA2628337665 | FBN1 | c.539-130G>T (n.539-130G>T)
| gnomAD v4 |
| 15 | g.48537938C= | CA2175539726 | FBN1 | c.539-130G= (n.539-130G=)
| |
| 15 | g.48537938C>G | CA270013671 | FBN1 | c.539-130G>C (n.539-130G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537938C>T | CA2628337666 | FBN1 | c.539-130G>A (n.539-130G>A)
| gnomAD v4 |
| 15 | g.48537940G>A | CA2628337667 | FBN1 | c.539-132C>T (n.539-132C>T)
| gnomAD v4 |
| 15 | g.48537940G>C | CA2628337668 | FBN1 | c.539-132C>G (n.539-132C>G)
| gnomAD v4 |
| 15 | g.48537940G>T | CA2628337669 | FBN1 | c.539-132C>A (n.539-132C>A)
| gnomAD v4 |
| 15 | g.48537941T>C | CA2628337670 | FBN1 | c.539-133A>G (n.539-133A>G)
| dbSNP gnomAD v4 |
| 15 | g.48537942C>A | CA2628337671 | FBN1 | c.539-134G>T (n.539-134G>T)
| gnomAD v4 |
| 15 | g.48537942C>T | CA2628337672 | FBN1 | c.539-134G>A (n.539-134G>A)
| gnomAD v4 |
| 15 | g.48537943C>A | CA2628337673 | FBN1 | c.539-135G>T (n.539-135G>T)
| gnomAD v4 |
| 15 | g.48537943C>T | CA2628337674 | FBN1 | c.539-135G>A (n.539-135G>A)
| gnomAD v4 |
| 15 | g.48537944C>A | CA2628337675 | FBN1 | c.539-136G>T (n.539-136G>T)
| gnomAD v4 |
| 15 | g.48537945T>C | CA2628337676 | FBN1 | c.539-137A>G (n.539-137A>G)
| gnomAD v4 |
| 15 | g.48537946G>A | CA270013676 | FBN1 | c.539-138C>T (n.539-138C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537946G>C | CA2628337678 | FBN1 | c.539-138C>G (n.539-138C>G)
| gnomAD v4 |
| 15 | g.48537946G= | CA2175539728 | FBN1 | c.539-138C= (n.539-138C=)
| |
| 15 | g.48537946G>T | CA2628337677 | FBN1 | c.539-138C>A (n.539-138C>A)
| gnomAD v4 |
| 15 | g.48537947T>C | CA270013678 | FBN1 | c.539-139A>G (n.539-139A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537947T= | CA2175539729 | FBN1 | c.539-139A= (n.539-139A=)
| |
| 15 | g.48537948G>T | CA2628337679 | FBN1 | c.539-140C>A (n.539-140C>A)
| gnomAD v4 |
| 15 | g.48537949T>A | CA2628337680 | FBN1 | c.539-141A>T (n.539-141A>T)
| gnomAD v4 |
| 15 | g.48537950A= | CA2175539731 | FBN1 | c.539-142T= (n.539-142T=)
| |
| 15 | g.48537950A>G | CA2175539732 | FBN1 | c.539-142T>C (n.539-142T>C)
| dbSNP |
| 15 | g.48537951A>T | CA2628337681 | FBN1 | c.539-143T>A (n.539-143T>A)
| gnomAD v4 |
| 15 | g.48537953del | CA2628337682 | FBN1 | c.539-144del (n.539-144del)
| gnomAD v4 |
| 15 | g.48537953G>A | CA270013690 | FBN1 | c.539-145C>T (n.539-145C>T)
| dbSNP gnomAD v4 |
| 15 | g.48537953G= | CA2175539735 | FBN1 | c.539-145C= (n.539-145C=)
| |
| 15 | g.48537953G>T | CA2628337683 | FBN1 | c.539-145C>A (n.539-145C>A)
| gnomAD v4 |
| 15 | g.48537954C>A | CA2628337684 | FBN1 | c.539-146G>T (n.539-146G>T)
| gnomAD v4 |
| 15 | g.48537955C>A | CA2628337685 | FBN1 | c.539-147G>T (n.539-147G>T)
| gnomAD v4 |
| 15 | g.48537955C= | CA2175539737 | FBN1 | c.539-147G= (n.539-147G=)
| |
| 15 | g.48537955C>T | CA270013692 | FBN1 | c.539-147G>A (n.539-147G>A)
| dbSNP gnomAD v4 |
| 15 | g.48537957T>G | CA2628337686 | FBN1 | c.539-149A>C (n.539-149A>C)
| gnomAD v4 |
| 15 | g.48537958G>T | CA2628337687 | FBN1 | c.539-150C>A (n.539-150C>A)
| gnomAD v4 |
| 15 | g.48537959G>C | CA713405972 | FBN1 | c.539-151C>G (n.539-151C>G)
| dbSNP gnomAD v4 |
| 15 | g.48537959G= | CA2175539739 | FBN1 | c.539-151C= (n.539-151C=)
| |
| 15 | g.48537962A= | CA2175539742 | FBN1 | c.539-154T= (n.539-154T=)
| |
| 15 | g.48537962A>G | CA270013696 | FBN1 | c.539-154T>C (n.539-154T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537965C>A | CA270013704 | FBN1 | c.539-157G>T (n.539-157G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537965C= | CA2175539746 | FBN1 | c.539-157G= (n.539-157G=)
| |
| 15 | g.48537965C>T | CA713405973 | FBN1 | c.539-157G>A (n.539-157G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537966C= | CA2175539751 | FBN1 | c.539-158G= (n.539-158G=)
| |
| 15 | g.48537966C>T | CA270013709 | FBN1 | c.539-158G>A (n.539-158G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537977T>C | CA713405974 | FBN1 | c.539-169A>G (n.539-169A>G)
| dbSNP |
| 15 | g.48537977T= | CA2175539753 | FBN1 | c.539-169A= (n.539-169A=)
| |
| 15 | g.48537978G>A | CA2175539756 | FBN1 | c.539-170C>T (n.539-170C>T)
| dbSNP |
| 15 | g.48537978G= | CA2175539755 | FBN1 | c.539-170C= (n.539-170C=)
| |
| 15 | g.48537981C= | CA2175539757 | FBN1 | c.539-173G= (n.539-173G=)
| |
| 15 | g.48537981C>T | CA270013714 | FBN1 | c.539-173G>A (n.539-173G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537982C= | CA2175539760 | FBN1 | c.539-174G= (n.539-174G=)
| |
| 15 | g.48537982C>G | CA270013721 | FBN1 | c.539-174G>C (n.539-174G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537982C>T | CA713405976 | FBN1 | c.539-174G>A (n.539-174G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537983C= | CA2175539762 | FBN1 | c.539-175G= (n.539-175G=)
| |
| 15 | g.48537983C>T | CA2175539763 | FBN1 | c.539-175G>A (n.539-175G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537984G>A | CA617942165 | FBN1 | c.539-176C>T (n.539-176C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537984G= | CA2175539766 | FBN1 | c.539-176C= (n.539-176C=)
| |
| 15 | g.48537984G>T | CA2175539768 | FBN1 | c.539-176C>A (n.539-176C>A)
| dbSNP |
| 15 | g.48537985A= | CA2175539771 | FBN1 | c.539-177T= (n.539-177T=)
| |
| 15 | g.48537985A>C | CA617942167 | FBN1 | c.539-177T>G (n.539-177T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537987T>C | CA270013728 | FBN1 | c.539-179A>G (n.539-179A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537987T>G | CA969574581 | FBN1 | c.539-179A>C (n.539-179A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537987T= | CA2175539774 | FBN1 | c.539-179A= (n.539-179A=)
| |
| 15 | g.48537990C>A | CA270013732 | FBN1 | c.539-182G>T (n.539-182G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537990C= | CA2175539776 | FBN1 | c.539-182G= (n.539-182G=)
| |
| 15 | g.48538001A>G | CA2562909998 | FBN1 | c.539-193T>C (n.539-193T>C)
| |
| 15 | g.48538002A= | CA2175539779 | FBN1 | c.539-194T= (n.539-194T=)
| |
| 15 | g.48538002A>G | CA969574590 | FBN1 | c.539-194T>C (n.539-194T>C)
| dbSNP |
| 15 | g.48538008A= | CA2175539781 | FBN1 | c.539-200T= (n.539-200T=)
| |
| 15 | g.48538008A>G | CA713405990 | FBN1 | c.539-200T>C (n.539-200T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48538009T>G | CA969574591 | FBN1 | c.539-201A>C (n.539-201A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48538009T= | CA2175539783 | FBN1 | c.539-201A= (n.539-201A=)
| |
| 15 | g.48538010G>A | CA713405993 | FBN1 | c.539-202C>T (n.539-202C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48538010G= | CA2175539785 | FBN1 | c.539-202C= (n.539-202C=)
| |
| 15 | g.48538023_48538024insGTTGTGCTGCTCCGTATGAACTTCGGAAAGCAAGAATAGTCGTTGGGATGATGG | CA2548582256 | FBN1 | c.539-215_539-214insCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAACC (n.539-215_539-214insCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAACC)
| |
| 15 | g.48538023_48538024insGTTGTGCTGCTCCGTATGAACTTCGGAAAGCAAGAATAGTCGTTGGGATGATGGTTAAGCCCGAAGTATTCAGCACCAAGAACA | CA2512162473 | FBN1 | c.539-216_539-215insTGTTCTTGGTGCTGAATACTTCGGGCTTAACCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAAC (n.539-216_539-215insTGTTCTTGGTGCTGAATACTTCGGGCTTAACCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAAC)
| |
| 15 | g.48538023_48538024insGTTGTGCTGCTCCGTATGAACTTCGGAAAGCAAGAATAGTCGTTGGGATGATGGTTAAGCCCGAAGTATTCAGCACCAAGAACATAATCATTGGGTTGGTAGCGGTGTCCTTCTGTGTGT | CA2542097419 | FBN1 | c.539-216_539-215insACACACAGAAGGACACCGCTACCAACCCAATGATTATGTTCTTGGTGCTGAATACTTCGGGCTTAACCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAAC (n.539-216_539-215insACACACAGAAGGACACCGCTACCAACCCAATGATTATGTTCTTGGTGCTGAATACTTCGGGCTTAACCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAAC)
| |
| 15 | g.48538023_48538024insGTTGTGCTGCTCCGTATGAACTTCGGAAAGCAAGAATAGTCGTTGGGATGATGGTTAAGCCCGAAGTATTCAGCACCAAGAACATTATCATTGGGTTGGTAGCGGTGTCCTTCTGTGTGT | CA2567407602 | FBN1 | c.539-216_539-215insACACACAGAAGGACACCGCTACCAACCCAATGATAATGTTCTTGGTGCTGAATACTTCGGGCTTAACCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAAC (n.539-216_539-215insACACACAGAAGGACACCGCTACCAACCCAATGATAATGTTCTTGGTGCTGAATACTTCGGGCTTAACCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAAC)
| |
| 15 | g.48538023_48538024insGTTGTGCTGCTCCGTATGAACTTCGGAAAGCAAGAATAGTCGTTGGGATGATGGTTAAGCCCGAAGTATTCAGCACCAAGAACATTATCATGGGGTTGGTAGCGGTGTCCTTCTGTGTGT | CA2520474823 | FBN1 | c.539-216_539-215insACACACAGAAGGACACCGCTACCAACCCCATGATAATGTTCTTGGTGCTGAATACTTCGGGCTTAACCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAAC (n.539-216_539-215insACACACAGAAGGACACCGCTACCAACCCCATGATAATGTTCTTGGTGCTGAATACTTCGGGCTTAACCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAAC)
| |
| 15 | g.48538023_48538024insGTTGTGCTGCTCCGTATGAACTTCGGAAAGCAAGAATAGTCGTTGGGATGATGGTTAAGCCCGAAGTATTCAGCACCAAGAACATTATCATTGGGTTGGTAGCTGTGTCTTTCTGTGTGT | CA2509039555 | FBN1 | c.539-216_539-215insACACACAGAAAGACACAGCTACCAACCCAATGATAATGTTCTTGGTGCTGAATACTTCGGGCTTAACCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAAC (n.539-216_539-215insACACACAGAAAGACACAGCTACCAACCCAATGATAATGTTCTTGGTGCTGAATACTTCGGGCTTAACCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAAC)
| |
| 15 | g.48538023_48538024insGTTGTGCTGCTCCGTATGAACTTCGGAAAGCAAGAATAGTCGTTGGGATGATGGTTAAGCCCGAAGTATTCAGCACCAAGAACATTATCATGGGGTTGGTAGCGGTGTCCTTCTGTGTGTTTAGCTC | CA2557828612 | FBN1 | c.539-216_539-215insGAGCTAAACACACAGAAGGACACCGCTACCAACCCCATGATAATGTTCTTGGTGCTGAATACTTCGGGCTTAACCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAAC (n.539-216_539-215insGAGCTAAACACACAGAAGGACACCGCTACCAACCCCATGATAATGTTCTTGGTGCTGAATACTTCGGGCTTAACCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAAC)
| |
| 15 | g.48538023_48538024insGTTGTGCTGCTCCGTATGAACTTCGGAAAGCAAGAATAGTCGTTGGGATGATGGTTAAGCCCGAAGTATTCAGCACCAAGAACATTATCATTGGGTTGGTAGCGGTGTCTTTCTGTGTGTTTAGCTC | CA2506016124 | FBN1 | c.539-216_539-215insGAGCTAAACACACAGAAAGACACCGCTACCAACCCAATGATAATGTTCTTGGTGCTGAATACTTCGGGCTTAACCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAAC (n.539-216_539-215insGAGCTAAACACACAGAAAGACACCGCTACCAACCCAATGATAATGTTCTTGGTGCTGAATACTTCGGGCTTAACCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAAC)
| |
| 15 | g.48538023_48538024insGTTGTGCTGCTCCGTATGAACTTCGGAAAGCAAGAATAGTCGTTGGGATGATGGTTAAGCCCGAAGTATTCAGCACCAAGAACATTATCATTGGGTTGGTAGCTGTGTCTTTCTGTGTGTTTAGCTC | CA2559365861 | FBN1 | c.539-216_539-215insGAGCTAAACACACAGAAAGACACAGCTACCAACCCAATGATAATGTTCTTGGTGCTGAATACTTCGGGCTTAACCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAAC (n.539-216_539-215insGAGCTAAACACACAGAAAGACACAGCTACCAACCCAATGATAATGTTCTTGGTGCTGAATACTTCGGGCTTAACCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAAC)
| |
| 15 | g.48538023_48538024insGTTGTGCTGCTCCGTATGAACTTCGGAAAGCAAGAATAGTCGTTGGGATGATGGTTAAGCCCGAAGTATTCAGCACCAAGAACATTATCATTGGGTTGGTAGCGGTGTCCTTCTGTGTGTTTAGCTC | CA2544311079 | FBN1 | c.539-216_539-215insGAGCTAAACACACAGAAGGACACCGCTACCAACCCAATGATAATGTTCTTGGTGCTGAATACTTCGGGCTTAACCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAAC (n.539-216_539-215insGAGCTAAACACACAGAAGGACACCGCTACCAACCCAATGATAATGTTCTTGGTGCTGAATACTTCGGGCTTAACCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAAC)
| |
| 15 | g.48538023_48538024insGTTGTGCTGCTCCGTATGAACTTCGGAAAGCAAGAATAGTCGTTGGGATGATGGTTAAGCCCGAAGTATTCAGCACCAAGAACATAATCATTGGGTTGGTAGCGGTGTCCTTCTGTGTGTTTAGCTC | CA2542453266 | FBN1 | c.539-216_539-215insGAGCTAAACACACAGAAGGACACCGCTACCAACCCAATGATTATGTTCTTGGTGCTGAATACTTCGGGCTTAACCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAAC (n.539-216_539-215insGAGCTAAACACACAGAAGGACACCGCTACCAACCCAATGATTATGTTCTTGGTGCTGAATACTTCGGGCTTAACCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAAC)
| |
| 15 | g.48538026_48538027delinsAC | CA2175539786 | FBN1 | c.539-219_539-218delinsGT (n.539-219_539-218delinsGT)
| |
| 15 | g.48538026_48538027insAGCCCGAAGTATTCAGCACCAAGAACATTATCATTGGGTTGGTAGCGGTGTCTTTCTGTGTGTTTAGCTCTTG | CA2530361858 | FBN1 | c.539-219_539-218insCAAGAGCTAAACACACAGAAAGACACCGCTACCAACCCAATGATAATGTTCTTGGTGCTGAATACTTCGGGCT (n.539-219_539-218insCAAGAGCTAAACACACAGAAAGACACCGCTACCAACCCAATGATAATGTTCTTGGTGCTGAATACTTCGGGCT)
| |
| 15 | g.48538026_48538027insAGCCCGAAGTATTCAGCACCAAGAACATTATCATTGGGTTGGTAGCGGTGTCCTTCTGTGTGTTTAGCTCTTG | CA2554433818 | FBN1 | c.539-219_539-218insCAAGAGCTAAACACACAGAAGGACACCGCTACCAACCCAATGATAATGTTCTTGGTGCTGAATACTTCGGGCT (n.539-219_539-218insCAAGAGCTAAACACACAGAAGGACACCGCTACCAACCCAATGATAATGTTCTTGGTGCTGAATACTTCGGGCT)
| |
| 15 | g.48538026_48538027insAGCCCGAAGTATTCAGCACCAAGAACATTATCATGGGGTTGGTAGCGGTGTCCTTCTGTGTGTTTAACTCTTG | CA2520078013 | FBN1 | c.539-219_539-218insCAAGAGTTAAACACACAGAAGGACACCGCTACCAACCCCATGATAATGTTCTTGGTGCTGAATACTTCGGGCT (n.539-219_539-218insCAAGAGTTAAACACACAGAAGGACACCGCTACCAACCCCATGATAATGTTCTTGGTGCTGAATACTTCGGGCT)
| |
| 15 | g.48538026_48538027insAGCCCGAAGTATTCAGCACCAAGAACATTATCATGGGGTTGGTAGCGGTGTCCTTCTGTGTGTTTAGCTCTTG | CA2517039967 | FBN1 | c.539-219_539-218insCAAGAGCTAAACACACAGAAGGACACCGCTACCAACCCCATGATAATGTTCTTGGTGCTGAATACTTCGGGCT (n.539-219_539-218insCAAGAGCTAAACACACAGAAGGACACCGCTACCAACCCCATGATAATGTTCTTGGTGCTGAATACTTCGGGCT)
| |
| 15 | g.48538026_48538027insAGCCCGAAGTATTCAGCACCAAGAACATTATCATTGGGTTGGTAGCTGTGTCTTTCTGTGTGTTTAGCTCTTG | CA2529934842 | FBN1 | c.539-219_539-218insCAAGAGCTAAACACACAGAAAGACACAGCTACCAACCCAATGATAATGTTCTTGGTGCTGAATACTTCGGGCT (n.539-219_539-218insCAAGAGCTAAACACACAGAAAGACACAGCTACCAACCCAATGATAATGTTCTTGGTGCTGAATACTTCGGGCT)
| |
| 15 | g.48538027C>T | CA2730868217 | FBN1 | c.539-219G>A (n.539-219G>A)
| dbSNP |
| 15 | g.48538029del | CA270013735 | FBN1 | c.539-219del (n.539-219del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
