| 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 |
| 15 | g.48538040C= | CA2175539789 | FBN1 | c.539-232G= (n.539-232G=)
| |
| 15 | g.48538040C>T | CA270013748 | FBN1 | c.539-232G>A (n.539-232G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48538041G>A | CA270013753 | FBN1 | c.539-233C>T (n.539-233C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48538041G= | CA2175539792 | FBN1 | c.539-233C= (n.539-233C=)
| |
| 15 | g.48538042G= | CA2175539794 | FBN1 | c.539-234C= (n.539-234C=)
| |
| 15 | g.48538042G>T | CA969574597 | FBN1 | c.539-234C>A (n.539-234C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48538045T>C | CA617942171 | FBN1 | c.539-237A>G (n.539-237A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48538045T= | CA2175539797 | FBN1 | c.539-237A= (n.539-237A=)
| |
| 15 | g.48538046T>C | CA2592751179 | FBN1 | c.539-238A>G (n.539-238A>G)
| gnomAD v3 gnomAD v4 |
| 15 | g.48538051G>A | CA713406001 | FBN1 | c.539-243C>T (n.539-243C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48538051G>C | CA270013766 | FBN1 | c.539-243C>G (n.539-243C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48538051G= | CA2175539801 | FBN1 | c.539-243C= (n.539-243C=)
| |
| 15 | g.48538052G>A | CA2804072269 | FBN1 | c.539-244C>T (n.539-244C>T)
| |
| 15 | g.48538053A= | CA2175539805 | FBN1 | c.539-245T= (n.539-245T=)
| |
| 15 | g.48538053A>T | CA713406009 | FBN1 | c.539-245T>A (n.539-245T>A)
| dbSNP |
| 15 | g.48538056A= | CA2175539808 | FBN1 | c.539-248T= (n.539-248T=)
| |
| 15 | g.48538056A>G | CA270013786 | FBN1 | c.539-248T>C (n.539-248T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48538058G>A | CA2730868222 | FBN1 | c.539-250C>T (n.539-250C>T)
| dbSNP |
| 15 | g.48538059C>A | CA2804072271 | FBN1 | c.539-251G>T (n.539-251G>T)
| |
| 15 | g.48538059C= | CA2175539811 | FBN1 | c.539-251G= (n.539-251G=)
| |
| 15 | g.48538059C>T | CA270013793 | FBN1 | c.539-251G>A (n.539-251G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48538060G>A | CA270013822 | FBN1 | c.539-252C>T (n.539-252C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48538060G= | CA2175539814 | FBN1 | c.539-252C= (n.539-252C=)
| |
| 15 | g.48538062G>A | CA270013823 | FBN1 | c.539-254C>T (n.539-254C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48538062G= | CA2175539815 | FBN1 | c.539-254C= (n.539-254C=)
| |
| 15 | g.48538063C= | CA2175539818 | FBN1 | c.539-255G= (n.539-255G=)
| |
| 15 | g.48538063C>T | CA617942173 | FBN1 | c.539-255G>A (n.539-255G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48538065A>C | CA2567979493 | FBN1 | c.539-257T>G (n.539-257T>G)
| |
