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)
| |
15 | g.48538067T>C | CA270013824 | FBN1 | c.539-259A>G (n.539-259A>G)
| dbSNP |
15 | g.48538067T= | CA2175539821 | FBN1 | c.539-259A= (n.539-259A=)
| |
15 | g.48538068G>A | CA713406025 | FBN1 | c.539-260C>T (n.539-260C>T)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.48538068G= | CA2175539824 | FBN1 | c.539-260C= (n.539-260C=)
| |
15 | g.48538074C= | CA2175539825 | FBN1 | c.539-266G= (n.539-266G=)
| |
15 | g.48538074C>T | CA656136202 | FBN1 | c.539-266G>A (n.539-266G>A)
| dbSNP COSMIC |
15 | g.48538075T>C | CA617942174 | FBN1 | c.539-267A>G (n.539-267A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48538075T= | CA2175539828 | FBN1 | c.539-267A= (n.539-267A=)
| |
15 | g.48538086G>A | CA270013826 | FBN1 | c.539-278C>T (n.539-278C>T)
| dbSNP |
15 | g.48538086G= | CA2175539830 | FBN1 | c.539-278C= (n.539-278C=)
| |
15 | g.48538087T>C | CA713406037 | FBN1 | c.539-279A>G (n.539-279A>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.48538087T= | CA2175539832 | FBN1 | c.539-279A= (n.539-279A=)
| |
15 | g.48538091T>C | CA2175539836 | FBN1 | c.539-283A>G (n.539-283A>G)
| dbSNP |
15 | g.48538091T= | CA2175539835 | FBN1 | c.539-283A= (n.539-283A=)
| |
15 | g.48538092T>G | CA2175539839 | FBN1 | c.539-284A>C (n.539-284A>C)
| dbSNP |
15 | g.48538092T= | CA2175539838 | FBN1 | c.539-284A= (n.539-284A=)
| |
15 | g.48538094C>T | CA2509926593 | FBN1 | c.539-286G>A (n.539-286G>A)
| |
15 | g.48538096A= | CA2175539840 | FBN1 | c.539-288T= (n.539-288T=)
| |
15 | g.48538096A>G | CA713406049 | FBN1 | c.539-288T>C (n.539-288T>C)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.48538097T>C | CA617942176 | FBN1 | c.539-289A>G (n.539-289A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48538097T= | CA2175539842 | FBN1 | c.539-289A= (n.539-289A=)
| |
15 | g.48538098A= | CA2175539844 | FBN1 | c.539-290T= (n.539-290T=)
| |
15 | g.48538098A>G | CA2175539846 | FBN1 | c.539-290T>C (n.539-290T>C)
| dbSNP |
15 | g.48538099C>T | CA2804072272 | FBN1 | c.539-291G>A (n.539-291G>A)
| |
15 | g.48538100A= | CA2175539849 | FBN1 | c.539-292T= (n.539-292T=)
| |
15 | g.48538100A>G | CA713406054 | FBN1 | c.539-292T>C (n.539-292T>C)
| dbSNP |
15 | g.48538101A= | CA2175539851 | FBN1 | c.539-293T= (n.539-293T=)
| |
15 | g.48538101A>G | CA270013827 | FBN1 | c.539-293T>C (n.539-293T>C)
| dbSNP gnomAD v3 gnomAD v4 |