Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.128357204C>A | CA2675118737 | FBN2 | c.2674+72G>T (n.2674+72G>T) c.2575+72G>T (n.2575+72G>T) c.2671+72G>T (n.2671+72G>T) c.2521+72G>T (n.2521+72G>T) | gnomAD v4 |
5 | g.128357204C= | CA1581282223 | FBN2 | c.2674+72G= (n.2674+72G=) c.2575+72G= (n.2575+72G=) c.2671+72G= (n.2671+72G=) c.2521+72G= (n.2521+72G=) | |
5 | g.128357204C>T | CA127026801 | FBN2 | c.2674+72G>A (n.2674+72G>A) c.2575+72G>A (n.2575+72G>A) c.2671+72G>A (n.2671+72G>A) c.2521+72G>A (n.2521+72G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128357205G>A | CA562717641 | FBN2 | c.2674+71C>T (n.2674+71C>T) c.2575+71C>T (n.2575+71C>T) c.2671+71C>T (n.2671+71C>T) c.2521+71C>T (n.2521+71C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128357205G>C | CA2675118738 | FBN2 | c.2674+71C>G (n.2674+71C>G) c.2575+71C>G (n.2575+71C>G) c.2671+71C>G (n.2671+71C>G) c.2521+71C>G (n.2521+71C>G) | gnomAD v4 |
5 | g.128357205G= | CA1581282225 | FBN2 | c.2674+71C= (n.2674+71C=) c.2575+71C= (n.2575+71C=) c.2671+71C= (n.2671+71C=) c.2521+71C= (n.2521+71C=) | |
5 | g.128357205G>T | CA1581282224 | FBN2 | c.2674+71C>A (n.2674+71C>A) c.2575+71C>A (n.2575+71C>A) c.2671+71C>A (n.2671+71C>A) c.2521+71C>A (n.2521+71C>A) | dbSNP gnomAD v4 |
5 | g.128357206T>C | CA2675118739 | FBN2 | c.2674+70A>G (n.2674+70A>G) c.2575+70A>G (n.2575+70A>G) c.2671+70A>G (n.2671+70A>G) c.2521+70A>G (n.2521+70A>G) | gnomAD v4 |
5 | g.128357207A= | CA1581282226 | FBN2 | c.2674+69T= (n.2674+69T=) c.2575+69T= (n.2575+69T=) c.2671+69T= (n.2671+69T=) c.2521+69T= (n.2521+69T=) | |
5 | g.128357207A>G | CA803626382 | FBN2 | c.2674+69T>C (n.2674+69T>C) c.2575+69T>C (n.2575+69T>C) c.2671+69T>C (n.2671+69T>C) c.2521+69T>C (n.2521+69T>C) | dbSNP |
5 | g.128357208G>T | CA2675118740 | FBN2 | c.2674+68C>A (n.2674+68C>A) c.2575+68C>A (n.2575+68C>A) c.2671+68C>A (n.2671+68C>A) c.2521+68C>A (n.2521+68C>A) | gnomAD v4 |
5 | g.128357209T>C | CA1081366589 | FBN2 | c.2674+67A>G (n.2674+67A>G) c.2575+67A>G (n.2575+67A>G) c.2671+67A>G (n.2671+67A>G) c.2521+67A>G (n.2521+67A>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128357209T= | CA1581282227 | FBN2 | c.2674+67A= (n.2674+67A=) c.2575+67A= (n.2575+67A=) c.2671+67A= (n.2671+67A=) c.2521+67A= (n.2521+67A=) | |
5 | g.128357210A>G | CA2675118741 | FBN2 | c.2674+66T>C (n.2674+66T>C) c.2575+66T>C (n.2575+66T>C) c.2671+66T>C (n.2671+66T>C) c.2521+66T>C (n.2521+66T>C) | gnomAD v4 |
5 | g.128357212G= | CA1581282228 | FBN2 | c.2674+64C= (n.2674+64C=) c.2575+64C= (n.2575+64C=) c.2671+64C= (n.2671+64C=) c.2521+64C= (n.2521+64C=) | |
5 | g.128357212G>T | CA1581282229 | FBN2 | c.2674+64C>A (n.2674+64C>A) c.2575+64C>A (n.2575+64C>A) c.2671+64C>A (n.2671+64C>A) c.2521+64C>A (n.2521+64C>A) | dbSNP gnomAD v4 |
5 | g.128357213G= | CA1581282230 | FBN2 | c.2674+63C= (n.2674+63C=) c.2575+63C= (n.2575+63C=) c.2671+63C= (n.2671+63C=) c.2521+63C= (n.2521+63C=) | |
5 | g.128357213G>T | CA803626394 | FBN2 | c.2674+63C>A (n.2674+63C>A) c.2575+63C>A (n.2575+63C>A) c.2671+63C>A (n.2671+63C>A) c.2521+63C>A (n.2521+63C>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128357214C>T | CA2675118742 | FBN2 | c.2674+62G>A (n.2674+62G>A) c.2575+62G>A (n.2575+62G>A) c.2671+62G>A (n.2671+62G>A) c.2521+62G>A (n.2521+62G>A) | gnomAD v4 |
5 | g.128357216T>C | CA2675118743 | FBN2 | c.2674+60A>G (n.2674+60A>G) c.2575+60A>G (n.2575+60A>G) c.2671+60A>G (n.2671+60A>G) c.2521+60A>G (n.2521+60A>G) | gnomAD v4 |
5 | g.128357216T>G | CA2578396475 | FBN2 | c.2674+60A>C (n.2674+60A>C) c.2575+60A>C (n.2575+60A>C) c.2671+60A>C (n.2671+60A>C) c.2521+60A>C (n.2521+60A>C) | gnomAD v4 |
5 | g.128357217G>T | CA2578396477 | FBN2 | c.2674+59C>A (n.2674+59C>A) c.2575+59C>A (n.2575+59C>A) c.2671+59C>A (n.2671+59C>A) c.2521+59C>A (n.2521+59C>A) | |
5 | g.128357219_128357220del | CA2578396476 | FBN2 | c.2674+58_2674+59del (n.2674+58_2674+59del) c.2575+58_2575+59del (n.2575+58_2575+59del) c.2671+58_2671+59del (n.2671+58_2671+59del) c.2521+58_2521+59del (n.2521+58_2521+59del) | |
5 | g.128357218A>G | CA2675118744 | FBN2 | c.2674+58T>C (n.2674+58T>C) c.2575+58T>C (n.2575+58T>C) c.2671+58T>C (n.2671+58T>C) c.2521+58T>C (n.2521+58T>C) | gnomAD v4 |
5 | g.128357219G>T | CA2675118745 | FBN2 | c.2674+57C>A (n.2674+57C>A) c.2575+57C>A (n.2575+57C>A) c.2671+57C>A (n.2671+57C>A) c.2521+57C>A (n.2521+57C>A) | gnomAD v4 |
5 | g.128357221T>C | CA2578396478 | FBN2 | c.2674+55A>G (n.2674+55A>G) c.2575+55A>G (n.2575+55A>G) c.2671+55A>G (n.2671+55A>G) c.2521+55A>G (n.2521+55A>G) | |
5 | g.128357222C>A | CA1581282232 | FBN2 | c.2674+54G>T (n.2674+54G>T) c.2575+54G>T (n.2575+54G>T) c.2671+54G>T (n.2671+54G>T) c.2521+54G>T (n.2521+54G>T) | dbSNP gnomAD v4 |
5 | g.128357222C= | CA1581282231 | FBN2 | c.2674+54G= (n.2674+54G=) c.2575+54G= (n.2575+54G=) c.2671+54G= (n.2671+54G=) c.2521+54G= (n.2521+54G=) | |
5 | g.128357224_128357228del | CA2675118746 | FBN2 | c.2674+50_2674+54del (n.2674+50_2674+54del) c.2575+50_2575+54del (n.2575+50_2575+54del) c.2671+50_2671+54del (n.2671+50_2671+54del) c.2521+50_2521+54del (n.2521+50_2521+54del) | gnomAD v4 |
5 | g.128357223T>G | CA2675118747 | FBN2 | c.2674+53A>C (n.2674+53A>C) c.2575+53A>C (n.2575+53A>C) c.2671+53A>C (n.2671+53A>C) c.2521+53A>C (n.2521+53A>C) | gnomAD v4 |
5 | g.128357226G>A | CA2675118748 | FBN2 | c.2674+50C>T (n.2674+50C>T) c.2575+50C>T (n.2575+50C>T) c.2671+50C>T (n.2671+50C>T) c.2521+50C>T (n.2521+50C>T) | gnomAD v4 |
5 | g.128357226G>T | CA650270624 | FBN2 | c.2674+50C>A (n.2674+50C>A) c.2575+50C>A (n.2575+50C>A) c.2671+50C>A (n.2671+50C>A) c.2521+50C>A (n.2521+50C>A) | COSMIC |
5 | g.128357227C>T | CA2675118749 | FBN2 | c.2674+49G>A (n.2674+49G>A) c.2575+49G>A (n.2575+49G>A) c.2671+49G>A (n.2671+49G>A) c.2521+49G>A (n.2521+49G>A) | gnomAD v4 |
5 | g.128357229T>C | CA2519470635 | FBN2 | c.2674+47A>G (n.2674+47A>G) c.2575+47A>G (n.2575+47A>G) c.2671+47A>G (n.2671+47A>G) c.2521+47A>G (n.2521+47A>G) | dbSNP gnomAD v4 |
5 | g.128357230A= | CA1581282233 | FBN2 | c.2674+46T= (n.2674+46T=) c.2575+46T= (n.2575+46T=) c.2671+46T= (n.2671+46T=) c.2521+46T= (n.2521+46T=) | |
5 | g.128357230A>G | CA1081366591 | FBN2 | c.2674+46T>C (n.2674+46T>C) c.2575+46T>C (n.2575+46T>C) c.2671+46T>C (n.2671+46T>C) c.2521+46T>C (n.2521+46T>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128357231T>C | CA2675118750 | FBN2 | c.2674+45A>G (n.2674+45A>G) c.2575+45A>G (n.2575+45A>G) c.2671+45A>G (n.2671+45A>G) c.2521+45A>G (n.2521+45A>G) | gnomAD v4 |
5 | g.128357232C= | CA1581282234 | FBN2 | c.2674+44G= (n.2674+44G=) c.2575+44G= (n.2575+44G=) c.2671+44G= (n.2671+44G=) c.2521+44G= (n.2521+44G=) | |
5 | g.128357232C>G | CA2675118751 | FBN2 | c.2674+44G>C (n.2674+44G>C) c.2575+44G>C (n.2575+44G>C) c.2671+44G>C (n.2671+44G>C) c.2521+44G>C (n.2521+44G>C) | gnomAD v4 |
5 | g.128357232C>T | CA562717642 | FBN2 | c.2674+44G>A (n.2674+44G>A) c.2575+44G>A (n.2575+44G>A) c.2671+44G>A (n.2671+44G>A) c.2521+44G>A (n.2521+44G>A) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128357235G>A | CA127026806 | FBN2 | c.2674+41C>T (n.2674+41C>T) c.2575+41C>T (n.2575+41C>T) c.2671+41C>T (n.2671+41C>T) c.2521+41C>T (n.2521+41C>T) | dbSNP |
5 | g.128357235G= | CA1581282235 | FBN2 | c.2674+41C= (n.2674+41C=) c.2575+41C= (n.2575+41C=) c.2671+41C= (n.2671+41C=) c.2521+41C= (n.2521+41C=) | |
5 | g.128357235G>T | CA2578396479 | FBN2 | c.2674+41C>A (n.2674+41C>A) c.2575+41C>A (n.2575+41C>A) c.2671+41C>A (n.2671+41C>A) c.2521+41C>A (n.2521+41C>A) | |
5 | g.128357236G>T | CA2675118752 | FBN2 | c.2674+40C>A (n.2674+40C>A) c.2575+40C>A (n.2575+40C>A) c.2671+40C>A (n.2671+40C>A) c.2521+40C>A (n.2521+40C>A) | gnomAD v4 |
5 | g.128357237C= | CA1581282236 | FBN2 | c.2674+39G= (n.2674+39G=) c.2575+39G= (n.2575+39G=) c.2671+39G= (n.2671+39G=) c.2521+39G= (n.2521+39G=) | |
5 | g.128357237C>T | CA1081366593 | FBN2 | c.2674+39G>A (n.2674+39G>A) c.2575+39G>A (n.2575+39G>A) c.2671+39G>A (n.2671+39G>A) c.2521+39G>A (n.2521+39G>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128357239G>A | CA2675118753 | FBN2 | c.2674+37C>T (n.2674+37C>T) c.2575+37C>T (n.2575+37C>T) c.2671+37C>T (n.2671+37C>T) c.2521+37C>T (n.2521+37C>T) | gnomAD v4 |
5 | g.128357240T>C | CA1581282238 | FBN2 | c.2674+36A>G (n.2674+36A>G) c.2575+36A>G (n.2575+36A>G) c.2671+36A>G (n.2671+36A>G) c.2521+36A>G (n.2521+36A>G) | dbSNP |
5 | g.128357240T= | CA1581282237 | FBN2 | c.2674+36A= (n.2674+36A=) c.2575+36A= (n.2575+36A=) c.2671+36A= (n.2671+36A=) c.2521+36A= (n.2521+36A=) | |
5 | g.128357245T>C | CA3395481 | FBN2 | c.2674+31A>G (n.2674+31A>G) c.2575+31A>G (n.2575+31A>G) c.2671+31A>G (n.2671+31A>G) c.2521+31A>G (n.2521+31A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128357245T= | CA1581282239 | FBN2 | c.2674+31A= (n.2674+31A=) c.2575+31A= (n.2575+31A=) c.2671+31A= (n.2671+31A=) c.2521+31A= (n.2521+31A=) | |
5 | g.128357246T>G | CA2675118754 | FBN2 | c.2674+30A>C (n.2674+30A>C) c.2575+30A>C (n.2575+30A>C) c.2671+30A>C (n.2671+30A>C) c.2521+30A>C (n.2521+30A>C) | gnomAD v4 |
5 | g.128357250G>T | CA2578396480 | FBN2 | c.2674+26C>A (n.2674+26C>A) c.2575+26C>A (n.2575+26C>A) c.2671+26C>A (n.2671+26C>A) c.2521+26C>A (n.2521+26C>A) | |
5 | g.128357252A= | CA1581282240 | FBN2 | c.2674+24T= (n.2674+24T=) c.2575+24T= (n.2575+24T=) c.2671+24T= (n.2671+24T=) c.2521+24T= (n.2521+24T=) | |
5 | g.128357252A>G | CA3395482 | FBN2 | c.2674+24T>C (n.2674+24T>C) c.2575+24T>C (n.2575+24T>C) c.2671+24T>C (n.2671+24T>C) c.2521+24T>C (n.2521+24T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128357253T>C | CA562717643 | FBN2 | c.2674+23A>G (n.2674+23A>G) c.2575+23A>G (n.2575+23A>G) c.2671+23A>G (n.2671+23A>G) c.2521+23A>G (n.2521+23A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128357253T= | CA1581282241 | FBN2 | c.2674+23A= (n.2674+23A=) c.2575+23A= (n.2575+23A=) c.2671+23A= (n.2671+23A=) c.2521+23A= (n.2521+23A=) | |
5 | g.128357254C= | CA1581282242 | FBN2 | c.2674+22G= (n.2674+22G=) c.2575+22G= (n.2575+22G=) c.2671+22G= (n.2671+22G=) c.2521+22G= (n.2521+22G=) | |
5 | g.128357254C>T | CA1581282243 | FBN2 | c.2674+22G>A (n.2674+22G>A) c.2575+22G>A (n.2575+22G>A) c.2671+22G>A (n.2671+22G>A) c.2521+22G>A (n.2521+22G>A) | dbSNP |
5 | g.128357256G>T | CA2675118755 | FBN2 | c.2674+20C>A (n.2674+20C>A) c.2575+20C>A (n.2575+20C>A) c.2671+20C>A (n.2671+20C>A) c.2521+20C>A (n.2521+20C>A) | gnomAD v4 |
5 | g.128357261G>T | CA650270628 | FBN2 | c.2674+15C>A (n.2674+15C>A) c.2575+15C>A (n.2575+15C>A) c.2671+15C>A (n.2671+15C>A) c.2521+15C>A (n.2521+15C>A) | COSMIC |
5 | g.128357262T>C | CA562717644 | FBN2 | c.2674+14A>G (n.2674+14A>G) c.2575+14A>G (n.2575+14A>G) c.2671+14A>G (n.2671+14A>G) c.2521+14A>G (n.2521+14A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128357262T= | CA1581282244 | FBN2 | c.2674+14A= (n.2674+14A=) c.2575+14A= (n.2575+14A=) c.2671+14A= (n.2671+14A=) c.2521+14A= (n.2521+14A=) | |
5 | g.128357263G>A | CA3395483 | FBN2 | c.2674+13C>T (n.2674+13C>T) c.2575+13C>T (n.2575+13C>T) c.2671+13C>T (n.2671+13C>T) c.2521+13C>T (n.2521+13C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128357263G>C | CA562717645 | FBN2 | c.2674+13C>G (n.2674+13C>G) c.2575+13C>G (n.2575+13C>G) c.2671+13C>G (n.2671+13C>G) c.2521+13C>G (n.2521+13C>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128357263G= | CA1581282245 | FBN2 | c.2674+13C= (n.2674+13C=) c.2575+13C= (n.2575+13C=) c.2671+13C= (n.2671+13C=) c.2521+13C= (n.2521+13C=) | |
5 | g.128357266T>C | CA3395484 | FBN2 | c.2674+10A>G (n.2674+10A>G) c.2575+10A>G (n.2575+10A>G) c.2671+10A>G (n.2671+10A>G) c.2521+10A>G (n.2521+10A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128357266T= | CA1581282246 | FBN2 | c.2674+10A= (n.2674+10A=) c.2575+10A= (n.2575+10A=) c.2671+10A= (n.2671+10A=) c.2521+10A= (n.2521+10A=) | |
5 | g.128357267del | CA2499217545 | FBN2 | c.2674+9del (n.2674+9del) c.2575+9del (n.2575+9del) c.2671+9del (n.2671+9del) c.2521+9del (n.2521+9del) | ClinVar dbSNP |
5 | g.128357268A>G | CA2675118756 | FBN2 | c.2674+8T>C (n.2674+8T>C) c.2575+8T>C (n.2575+8T>C) c.2671+8T>C (n.2671+8T>C) c.2521+8T>C (n.2521+8T>C) | gnomAD v4 |
5 | g.128357269A= | CA1581282247 | FBN2 | c.2674+7T= (n.2674+7T=) c.2575+7T= (n.2575+7T=) c.2671+7T= (n.2671+7T=) c.2521+7T= (n.2521+7T=) | |
5 | g.128357269A>C | CA2675118757 | FBN2 | c.2674+7T>G (n.2674+7T>G) c.2575+7T>G (n.2575+7T>G) c.2671+7T>G (n.2671+7T>G) c.2521+7T>G (n.2521+7T>G) | gnomAD v4 |
5 | g.128357269A>G | CA562717646 | FBN2 | c.2674+7T>C (n.2674+7T>C) c.2575+7T>C (n.2575+7T>C) c.2671+7T>C (n.2671+7T>C) c.2521+7T>C (n.2521+7T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128357270T>A | CA2573139024 | FBN2 | c.2674+6A>T (n.2674+6A>T) c.2575+6A>T (n.2575+6A>T) c.2671+6A>T (n.2671+6A>T) c.2521+6A>T (n.2521+6A>T) | ClinVar dbSNP gnomAD v4 |
5 | g.128357270T>C | CA562717647 | FBN2 | c.2674+6A>G (n.2674+6A>G) c.2575+6A>G (n.2575+6A>G) c.2671+6A>G (n.2671+6A>G) c.2521+6A>G (n.2521+6A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128357270T= | CA1581282248 | FBN2 | c.2674+6A= (n.2674+6A=) c.2575+6A= (n.2575+6A=) c.2671+6A= (n.2671+6A=) c.2521+6A= (n.2521+6A=) | |
5 | g.128357271C>G | CA2675118758 | FBN2 | c.2674+5G>C (n.2674+5G>C) c.2575+5G>C (n.2575+5G>C) c.2671+5G>C (n.2671+5G>C) c.2521+5G>C (n.2521+5G>C) | gnomAD v4 |
5 | g.128357272T>A | CA2578396481 | FBN2 | c.2674+4A>T (n.2674+4A>T) c.2575+4A>T (n.2575+4A>T) c.2671+4A>T (n.2671+4A>T) c.2521+4A>T (n.2521+4A>T) | |
5 | g.128357274A>C | CA360767229 | FBN2 | c.2674+2T>G (n.2674+2T>G) c.2575+2T>G (n.2575+2T>G) c.2671+2T>G (n.2671+2T>G) c.2521+2T>G (n.2521+2T>G) | |
5 | g.128357274A>G | CA360767230 | FBN2 | c.2674+2T>C (n.2674+2T>C) c.2575+2T>C (n.2575+2T>C) c.2671+2T>C (n.2671+2T>C) c.2521+2T>C (n.2521+2T>C) | |
5 | g.128357274A>T | CA360767232 | FBN2 | c.2674+2T>A (n.2674+2T>A) c.2575+2T>A (n.2575+2T>A) c.2671+2T>A (n.2671+2T>A) c.2521+2T>A (n.2521+2T>A) | |
5 | g.128357275C>A | CA360767233 | FBN2 | c.2674+1G>T (n.2674+1G>T) c.2575+1G>T (n.2575+1G>T) c.2671+1G>T (n.2671+1G>T) c.2521+1G>T (n.2521+1G>T) | |
5 | g.128357275C>G | CA360767235 | FBN2 | c.2674+1G>C (n.2674+1G>C) c.2575+1G>C (n.2575+1G>C) c.2671+1G>C (n.2671+1G>C) c.2521+1G>C (n.2521+1G>C) | |
5 | g.128357275C>T | CA360767236 | FBN2 | c.2674+1G>A (n.2674+1G>A) c.2575+1G>A (n.2575+1G>A) c.2671+1G>A (n.2671+1G>A) c.2521+1G>A (n.2521+1G>A) | |
5 | g.128357276C>A | CA360767238 | FBN2 | c.2674G>T (p.Asp892Tyr) c.2575G>T (p.Asp859Tyr) c.2671G>T (p.Asp891Tyr) c.2521G>T (p.Asp841Tyr) | |
5 | g.128357276C>G | CA360767240 | FBN2 | c.2674G>C (p.Asp892His) c.2575G>C (p.Asp859His) c.2671G>C (p.Asp891His) c.2521G>C (p.Asp841His) | |
5 | g.128357276C>T | CA360767242 | FBN2 | c.2674G>A (p.Asp892Asn) c.2575G>A (p.Asp859Asn) c.2671G>A (p.Asp891Asn) c.2521G>A (p.Asp841Asn) | |
5 | g.128357277A>C | CA360767245 | FBN2 | c.2673T>G (p.Ile891Met) c.2574T>G (p.Ile858Met) c.2670T>G (p.Ile890Met) c.2520T>G (p.Ile840Met) | |
5 | g.128357277A>G | CA446312298 | FBN2 | c.2673T>C (p.Ile891=) c.2574T>C (p.Ile858=) c.2670T>C (p.Ile890=) c.2520T>C (p.Ile840=) | |
5 | g.128357277A>T | CA446312299 | FBN2 | c.2673T>A (p.Ile891=) c.2574T>A (p.Ile858=) c.2670T>A (p.Ile890=) c.2520T>A (p.Ile840=) | |
5 | g.128357278A>C | CA360767246 | FBN2 | c.2672T>G (p.Ile891Ser) c.2573T>G (p.Ile858Ser) c.2669T>G (p.Ile890Ser) c.2519T>G (p.Ile840Ser) | |
5 | g.128357278A>G | CA360767248 | FBN2 | c.2672T>C (p.Ile891Thr) c.2573T>C (p.Ile858Thr) c.2669T>C (p.Ile890Thr) c.2519T>C (p.Ile840Thr) | |
5 | g.128357278A>T | CA360767250 | FBN2 | c.2672T>A (p.Ile891Asn) c.2573T>A (p.Ile858Asn) c.2669T>A (p.Ile890Asn) c.2519T>A (p.Ile840Asn) | |
5 | g.128357279T>A | CA360767252 | FBN2 | c.2671A>T (p.Ile891Phe) c.2572A>T (p.Ile858Phe) c.2668A>T (p.Ile890Phe) c.2518A>T (p.Ile840Phe) | |
5 | g.128357279T>C | CA360767255 | FBN2 | c.2671A>G (p.Ile891Val) c.2572A>G (p.Ile858Val) c.2668A>G (p.Ile890Val) c.2518A>G (p.Ile840Val) | dbSNP gnomAD v4 COSMIC COSMIC |
5 | g.128357279T>G | CA360767254 | FBN2 | c.2671A>C (p.Ile891Leu) c.2572A>C (p.Ile858Leu) c.2668A>C (p.Ile890Leu) c.2518A>C (p.Ile840Leu) | |
5 | g.128357279T= | CA1581282249 | FBN2 | c.2671A= (p.Ile891=) c.2572A= (p.Ile858=) c.2668A= (p.Ile890=) c.2518A= (p.Ile840=) | |
5 | g.128357280A= | CA1581282250 | FBN2 | c.2670T= (p.Cys890=) c.2571T= (p.Cys857=) c.2667T= (p.Cys889=) c.2517T= (p.Cys839=) | |
5 | g.128357280A>C | CA360767256 | FBN2 | c.2670T>G (p.Cys890Trp) c.2571T>G (p.Cys857Trp) c.2667T>G (p.Cys889Trp) c.2517T>G (p.Cys839Trp) | |
5 | g.128357280A>G | CA446312300 | FBN2 | c.2670T>C (p.Cys890=) c.2571T>C (p.Cys857=) c.2667T>C (p.Cys889=) c.2517T>C (p.Cys839=) | ClinVar dbSNP gnomAD v2 |
5 | g.128357280A>T | CA360767257 | FBN2 | c.2670T>A (p.Cys890Ter) c.2571T>A (p.Cys857Ter) c.2667T>A (p.Cys889Ter) c.2517T>A (p.Cys839Ter) | |
5 | g.128357281C>A | CA360767259 | FBN2 | c.2669G>T (p.Cys890Phe) c.2570G>T (p.Cys857Phe) c.2666G>T (p.Cys889Phe) c.2516G>T (p.Cys839Phe) | gnomAD v4 |
5 | g.128357281C>G | CA360767264 | FBN2 | c.2669G>C (p.Cys890Ser) c.2570G>C (p.Cys857Ser) c.2666G>C (p.Cys889Ser) c.2516G>C (p.Cys839Ser) | |
5 | g.128357281C>T | CA360767266 | FBN2 | c.2669G>A (p.Cys890Tyr) c.2570G>A (p.Cys857Tyr) c.2666G>A (p.Cys889Tyr) c.2516G>A (p.Cys839Tyr) | gnomAD v4 |
5 | g.128357282A= | CA1581282251 | FBN2 | c.2668T= (p.Cys890=) c.2569T= (p.Cys857=) c.2665T= (p.Cys889=) c.2515T= (p.Cys839=) | |
5 | g.128357282A>C | CA360767268 | FBN2 | c.2668T>G (p.Cys890Gly) c.2569T>G (p.Cys857Gly) c.2665T>G (p.Cys889Gly) c.2515T>G (p.Cys839Gly) | |
5 | g.128357282A>G | CA360767270 | FBN2 | c.2668T>C (p.Cys890Arg) c.2569T>C (p.Cys857Arg) c.2665T>C (p.Cys889Arg) c.2515T>C (p.Cys839Arg) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128357282A>T | CA360767272 | FBN2 | c.2668T>A (p.Cys890Ser) c.2569T>A (p.Cys857Ser) c.2665T>A (p.Cys889Ser) c.2515T>A (p.Cys839Ser) | |
5 | g.128357283G>A | CA446312301 | FBN2 | c.2667C>T (p.Ile889=) c.2568C>T (p.Ile856=) c.2664C>T (p.Ile888=) c.2514C>T (p.Ile838=) | |
5 | g.128357283G>C | CA360767274 | FBN2 | c.2667C>G (p.Ile889Met) c.2568C>G (p.Ile856Met) c.2664C>G (p.Ile888Met) c.2514C>G (p.Ile838Met) | |
5 | g.128357283G>T | CA446312302 | FBN2 | c.2667C>A (p.Ile889=) c.2568C>A (p.Ile856=) c.2664C>A (p.Ile888=) c.2514C>A (p.Ile838=) | |
5 | g.128357284A>C | CA360767277 | FBN2 | c.2666T>G (p.Ile889Ser) c.2567T>G (p.Ile856Ser) c.2663T>G (p.Ile888Ser) c.2513T>G (p.Ile838Ser) | |
5 | g.128357284A>G | CA360767278 | FBN2 | c.2666T>C (p.Ile889Thr) c.2567T>C (p.Ile856Thr) c.2663T>C (p.Ile888Thr) c.2513T>C (p.Ile838Thr) | |
5 | g.128357284A>T | CA360767280 | FBN2 | c.2666T>A (p.Ile889Asn) c.2567T>A (p.Ile856Asn) c.2663T>A (p.Ile888Asn) c.2513T>A (p.Ile838Asn) | |
5 | g.128357285T>A | CA360767285 | FBN2 | c.2665A>T (p.Ile889Phe) c.2566A>T (p.Ile856Phe) c.2662A>T (p.Ile888Phe) c.2512A>T (p.Ile838Phe) | gnomAD v4 |
5 | g.128357285T>C | CA360767282 | FBN2 | c.2665A>G (p.Ile889Val) c.2566A>G (p.Ile856Val) c.2662A>G (p.Ile888Val) c.2512A>G (p.Ile838Val) | gnomAD v4 |
5 | g.128357285T>G | CA360767283 | FBN2 | c.2665A>C (p.Ile889Leu) c.2566A>C (p.Ile856Leu) c.2662A>C (p.Ile888Leu) c.2512A>C (p.Ile838Leu) | |
5 | g.128357286C>A | CA360767286 | FBN2 | c.2664G>T (p.Leu888Phe) c.2565G>T (p.Leu855Phe) c.2661G>T (p.Leu887Phe) c.2511G>T (p.Leu837Phe) | |
5 | g.128357286C>G | CA360767288 | FBN2 | c.2664G>C (p.Leu888Phe) c.2565G>C (p.Leu855Phe) c.2661G>C (p.Leu887Phe) c.2511G>C (p.Leu837Phe) | |
5 | g.128357286C>T | CA446312303 | FBN2 | c.2664G>A (p.Leu888=) c.2565G>A (p.Leu855=) c.2661G>A (p.Leu887=) c.2511G>A (p.Leu837=) | gnomAD v4 |
5 | g.128357287A>C | CA360767290 | FBN2 | c.2663T>G (p.Leu888Trp) c.2564T>G (p.Leu855Trp) c.2660T>G (p.Leu887Trp) c.2510T>G (p.Leu837Trp) | |
5 | g.128357287A>G | CA360767292 | FBN2 | c.2663T>C (p.Leu888Ser) c.2564T>C (p.Leu855Ser) c.2660T>C (p.Leu887Ser) c.2510T>C (p.Leu837Ser) | |
5 | g.128357287A>T | CA360767293 | FBN2 | c.2663T>A (p.Leu888Ter) c.2564T>A (p.Leu855Ter) c.2660T>A (p.Leu887Ter) c.2510T>A (p.Leu837Ter) | |
5 | g.128357288A= | CA1581282252 | FBN2 | c.2662T= (p.Leu888=) c.2563T= (p.Leu855=) c.2659T= (p.Leu887=) c.2509T= (p.Leu837=) | |
5 | g.128357288A>C | CA360767294 | FBN2 | c.2662T>G (p.Leu888Val) c.2563T>G (p.Leu855Val) c.2659T>G (p.Leu887Val) c.2509T>G (p.Leu837Val) | |
5 | g.128357288A>G | CA446312304 | FBN2 | c.2662T>C (p.Leu888=) c.2563T>C (p.Leu855=) c.2659T>C (p.Leu887=) c.2509T>C (p.Leu837=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128357288A>T | CA360767295 | FBN2 | c.2662T>A (p.Leu888Met) c.2563T>A (p.Leu855Met) c.2659T>A (p.Leu887Met) c.2509T>A (p.Leu837Met) | |
5 | g.128357289T>A | CA446312306 | FBN2 | c.2661A>T (p.Gly887=) c.2562A>T (p.Gly854=) c.2658A>T (p.Gly886=) c.2508A>T (p.Gly836=) | |
5 | g.128357289T>C | CA3395485 | FBN2 | c.2661A>G (p.Gly887=) c.2562A>G (p.Gly854=) c.2658A>G (p.Gly886=) c.2508A>G (p.Gly836=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128357289T>G | CA446312305 | FBN2 | c.2661A>C (p.Gly887=) c.2562A>C (p.Gly854=) c.2658A>C (p.Gly886=) c.2508A>C (p.Gly836=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128357289T= | CA1581282253 | FBN2 | c.2661A= (p.Gly887=) c.2562A= (p.Gly854=) c.2658A= (p.Gly886=) c.2508A= (p.Gly836=) | |
5 | g.128357290C>A | CA360767296 | FBN2 | c.2660G>T (p.Gly887Val) c.2561G>T (p.Gly854Val) c.2657G>T (p.Gly886Val) c.2507G>T (p.Gly836Val) | |
5 | g.128357290C= | CA1581282254 | FBN2 | c.2660G= (p.Gly887=) c.2561G= (p.Gly854=) c.2657G= (p.Gly886=) c.2507G= (p.Gly836=) | |
5 | g.128357290C>G | CA3395486 | FBN2 | c.2660G>C (p.Gly887Ala) c.2561G>C (p.Gly854Ala) c.2657G>C (p.Gly886Ala) c.2507G>C (p.Gly836Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128357290C>T | CA360767297 | FBN2 | c.2660G>A (p.Gly887Glu) c.2561G>A (p.Gly854Glu) c.2657G>A (p.Gly886Glu) c.2507G>A (p.Gly836Glu) | |
5 | g.128357291C>A | CA360767299 | FBN2 | c.2659G>T (p.Gly887Ter) c.2560G>T (p.Gly854Ter) c.2656G>T (p.Gly886Ter) c.2506G>T (p.Gly836Ter) | |
5 | g.128357291C= | CA1581282255 | FBN2 | c.2659G= (p.Gly887=) c.2560G= (p.Gly854=) c.2656G= (p.Gly886=) c.2506G= (p.Gly836=) | |
5 | g.128357291C>G | CA360767300 | FBN2 | c.2659G>C (p.Gly887Arg) c.2560G>C (p.Gly854Arg) c.2656G>C (p.Gly886Arg) c.2506G>C (p.Gly836Arg) | |
5 | g.128357291C>T | CA360767298 | FBN2 | c.2659G>A (p.Gly887Arg) c.2560G>A (p.Gly854Arg) c.2656G>A (p.Gly886Arg) c.2506G>A (p.Gly836Arg) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128357292T>A | CA446312309 | FBN2 | c.2658A>T (p.Thr886=) c.2559A>T (p.Thr853=) c.2655A>T (p.Thr885=) c.2505A>T (p.Thr835=) | |
5 | g.128357292T>C | CA446312308 | FBN2 | c.2658A>G (p.Thr886=) c.2559A>G (p.Thr853=) c.2655A>G (p.Thr885=) c.2505A>G (p.Thr835=) | dbSNP |
5 | g.128357292T>G | CA446312307 | FBN2 | c.2658A>C (p.Thr886=) c.2559A>C (p.Thr853=) c.2655A>C (p.Thr885=) c.2505A>C (p.Thr835=) | |
5 | g.128357292T= | CA1581282256 | FBN2 | c.2658A= (p.Thr886=) c.2559A= (p.Thr853=) c.2655A= (p.Thr885=) c.2505A= (p.Thr835=) | |
5 | g.128357293G>A | CA360767305 | FBN2 | c.2657C>T (p.Thr886Ile) c.2558C>T (p.Thr853Ile) c.2654C>T (p.Thr885Ile) c.2504C>T (p.Thr835Ile) | |
5 | g.128357293G>C | CA360767302 | FBN2 | c.2657C>G (p.Thr886Arg) c.2558C>G (p.Thr853Arg) c.2654C>G (p.Thr885Arg) c.2504C>G (p.Thr835Arg) | |
5 | g.128357293G>T | CA360767303 | FBN2 | c.2657C>A (p.Thr886Lys) c.2558C>A (p.Thr853Lys) c.2654C>A (p.Thr885Lys) c.2504C>A (p.Thr835Lys) | |
5 | g.128357294T>A | CA360767307 | FBN2 | c.2656A>T (p.Thr886Ser) c.2557A>T (p.Thr853Ser) c.2653A>T (p.Thr885Ser) c.2503A>T (p.Thr835Ser) | |
5 | g.128357294T>C | CA360767308 | FBN2 | c.2656A>G (p.Thr886Ala) c.2557A>G (p.Thr853Ala) c.2653A>G (p.Thr885Ala) c.2503A>G (p.Thr835Ala) | |
5 | g.128357294T>G | CA360767309 | FBN2 | c.2656A>C (p.Thr886Pro) c.2557A>C (p.Thr853Pro) c.2653A>C (p.Thr885Pro) c.2503A>C (p.Thr835Pro) | |
5 | g.128357295G>A | CA446312310 | FBN2 | c.2655C>T (p.Ser885=) c.2556C>T (p.Ser852=) c.2652C>T (p.Ser884=) c.2502C>T (p.Ser834=) | gnomAD v4 |
5 | g.128357295G>C | CA446312312 | FBN2 | c.2655C>G (p.Ser885=) c.2556C>G (p.Ser852=) c.2652C>G (p.Ser884=) c.2502C>G (p.Ser834=) | |
5 | g.128357295G>T | CA446312311 | FBN2 | c.2655C>A (p.Ser885=) c.2556C>A (p.Ser852=) c.2652C>A (p.Ser884=) c.2502C>A (p.Ser834=) | |
5 | g.128357296G>A | CA360767310 | FBN2 | c.2654C>T (p.Ser885Phe) c.2555C>T (p.Ser852Phe) c.2651C>T (p.Ser884Phe) c.2501C>T (p.Ser834Phe) | |
5 | g.128357296G>C | CA360767311 | FBN2 | c.2654C>G (p.Ser885Cys) c.2555C>G (p.Ser852Cys) c.2651C>G (p.Ser884Cys) c.2501C>G (p.Ser834Cys) | gnomAD v4 |
5 | g.128357296G= | CA1581282257 | FBN2 | c.2654C= (p.Ser885=) c.2555C= (p.Ser852=) c.2651C= (p.Ser884=) c.2501C= (p.Ser834=) | |
5 | g.128357296G>T | CA127026841 | FBN2 | c.2654C>A (p.Ser885Tyr) c.2555C>A (p.Ser852Tyr) c.2651C>A (p.Ser884Tyr) c.2501C>A (p.Ser834Tyr) | dbSNP |
5 | g.128357297A>C | CA360767314 | FBN2 | c.2653T>G (p.Ser885Ala) c.2554T>G (p.Ser852Ala) c.2650T>G (p.Ser884Ala) c.2500T>G (p.Ser834Ala) | |
5 | g.128357297A>G | CA360767316 | FBN2 | c.2653T>C (p.Ser885Pro) c.2554T>C (p.Ser852Pro) c.2650T>C (p.Ser884Pro) c.2500T>C (p.Ser834Pro) | |
5 | g.128357297A>T | CA360767317 | FBN2 | c.2653T>A (p.Ser885Thr) c.2554T>A (p.Ser852Thr) c.2650T>A (p.Ser884Thr) c.2500T>A (p.Ser834Thr) | |
5 | g.128357298G>A | CA446312313 | FBN2 | c.2652C>T (p.Ser884=) c.2553C>T (p.Ser851=) c.2649C>T (p.Ser883=) c.2499C>T (p.Ser833=) | gnomAD v4 |
5 | g.128357298G>C | CA360767319 | FBN2 | c.2652C>G (p.Ser884Arg) c.2553C>G (p.Ser851Arg) c.2649C>G (p.Ser883Arg) c.2499C>G (p.Ser833Arg) | |
5 | g.128357298G>T | CA360767321 | FBN2 | c.2652C>A (p.Ser884Arg) c.2553C>A (p.Ser851Arg) c.2649C>A (p.Ser883Arg) c.2499C>A (p.Ser833Arg) | |
5 | g.128357299C>A | CA360767322 | FBN2 | c.2651G>T (p.Ser884Ile) c.2552G>T (p.Ser851Ile) c.2648G>T (p.Ser883Ile) c.2498G>T (p.Ser833Ile) | |
5 | g.128357299C= | CA1581282258 | FBN2 | c.2651G= (p.Ser884=) c.2552G= (p.Ser851=) c.2648G= (p.Ser883=) c.2498G= (p.Ser833=) | |
5 | g.128357299C>G | CA322791 | FBN2 | c.2651G>C (p.Ser884Thr) c.2552G>C (p.Ser851Thr) c.2648G>C (p.Ser883Thr) c.2498G>C (p.Ser833Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128357299C>T | CA360767326 | FBN2 | c.2651G>A (p.Ser884Asn) c.2552G>A (p.Ser851Asn) c.2648G>A (p.Ser883Asn) c.2498G>A (p.Ser833Asn) | dbSNP |
5 | g.128357300T>A | CA360767329 | FBN2 | c.2650A>T (p.Ser884Cys) c.2551A>T (p.Ser851Cys) c.2647A>T (p.Ser883Cys) c.2497A>T (p.Ser833Cys) | |
5 | g.128357300T>C | CA360767330 | FBN2 | c.2650A>G (p.Ser884Gly) c.2551A>G (p.Ser851Gly) c.2647A>G (p.Ser883Gly) c.2497A>G (p.Ser833Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128357300T>G | CA360767331 | FBN2 | c.2650A>C (p.Ser884Arg) c.2551A>C (p.Ser851Arg) c.2647A>C (p.Ser883Arg) c.2497A>C (p.Ser833Arg) | gnomAD v4 |
5 | g.128357300T= | CA1581282259 | FBN2 | c.2650A= (p.Ser884=) c.2551A= (p.Ser851=) c.2647A= (p.Ser883=) c.2497A= (p.Ser833=) | |
5 | g.128357301G>A | CA446312314 | FBN2 | c.2649C>T (p.Leu883=) c.2550C>T (p.Leu850=) c.2646C>T (p.Leu882=) c.2496C>T (p.Leu832=) | |
5 | g.128357301G>C | CA446312315 | FBN2 | c.2649C>G (p.Leu883=) c.2550C>G (p.Leu850=) c.2646C>G (p.Leu882=) c.2496C>G (p.Leu832=) | gnomAD v4 |
5 | g.128357301G>T | CA446312316 | FBN2 | c.2649C>A (p.Leu883=) c.2550C>A (p.Leu850=) c.2646C>A (p.Leu882=) c.2496C>A (p.Leu832=) | |
5 | g.128357302A>C | CA360767332 | FBN2 | c.2648T>G (p.Leu883Arg) c.2549T>G (p.Leu850Arg) c.2645T>G (p.Leu882Arg) c.2495T>G (p.Leu832Arg) | |
5 | g.128357302A>G | CA360767333 | FBN2 | c.2648T>C (p.Leu883Pro) c.2549T>C (p.Leu850Pro) c.2645T>C (p.Leu882Pro) c.2495T>C (p.Leu832Pro) | |
5 | g.128357302A>T | CA360767334 | FBN2 | c.2648T>A (p.Leu883His) c.2549T>A (p.Leu850His) c.2645T>A (p.Leu882His) c.2495T>A (p.Leu832His) | ClinVar |
5 | g.128357303G>A | CA360767335 | FBN2 | c.2647C>T (p.Leu883Phe) c.2548C>T (p.Leu850Phe) c.2644C>T (p.Leu882Phe) c.2494C>T (p.Leu832Phe) | |
5 | g.128357303G>C | CA360767336 | FBN2 | c.2647C>G (p.Leu883Val) c.2548C>G (p.Leu850Val) c.2644C>G (p.Leu882Val) c.2494C>G (p.Leu832Val) | |
5 | g.128357303G>T | CA360767337 | FBN2 | c.2647C>A (p.Leu883Ile) c.2548C>A (p.Leu850Ile) c.2644C>A (p.Leu882Ile) c.2494C>A (p.Leu832Ile) |