Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48474455T>C | CA2628334504 | FBN1 | c.4087+73A>G (n.4087+73A>G) n.2761+73A>G c.759+73A>G (n.759+73A>G) | gnomAD v4 |
15 | g.48474457C>A | CA2628334505 | FBN1 | c.4087+71G>T (n.4087+71G>T) n.2761+71G>T c.759+71G>T (n.759+71G>T) | gnomAD v4 |
15 | g.48474458A>G | CA2628334506 | FBN1 | c.4087+70T>C (n.4087+70T>C) n.2761+70T>C c.759+70T>C (n.759+70T>C) | gnomAD v4 |
15 | g.48474459T>C | CA269520493 | FBN1 | c.4087+69A>G (n.4087+69A>G) n.2761+69A>G c.759+69A>G (n.759+69A>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48474459T= | CA2175495695 | FBN1 | c.4087+69A= (n.4087+69A=) n.2761+69A= c.759+69A= (n.759+69A=) | |
15 | g.48474459_48474460delinsTA | CA2175495699 | FBN1 | c.4087+68_4087+69delinsTA (n.4087+68_4087+69delinsTA) n.2761+68_2761+69delinsTA c.759+68_759+69delinsTA (n.759+68_759+69delinsTA) | |
15 | g.48474461del | CA2175495702 | FBN1 | c.4087+68del (n.4087+68del) n.2761+68del c.759+68del (n.759+68del) | dbSNP gnomAD v4 |
15 | g.48474462T>C | CA2628334507 | FBN1 | c.4087+66A>G (n.4087+66A>G) n.2761+66A>G c.759+66A>G (n.759+66A>G) | gnomAD v4 |
15 | g.48474466T>C | CA2175495705 | FBN1 | c.4087+62A>G (n.4087+62A>G) n.2761+62A>G c.759+62A>G (n.759+62A>G) | dbSNP gnomAD v4 |
15 | g.48474466T= | CA2175495704 | FBN1 | c.4087+62A= (n.4087+62A=) n.2761+62A= c.759+62A= (n.759+62A=) | |
15 | g.48474467A= | CA2175495709 | FBN1 | c.4087+61T= (n.4087+61T=) n.2761+61T= c.759+61T= (n.759+61T=) | |
15 | g.48474467A>G | CA2175495711 | FBN1 | c.4087+61T>C (n.4087+61T>C) n.2761+61T>C c.759+61T>C (n.759+61T>C) | dbSNP |
15 | g.48474468T>A | CA2628334509 | FBN1 | c.4087+60A>T (n.4087+60A>T) n.2761+60A>T c.759+60A>T (n.759+60A>T) | gnomAD v4 |
15 | g.48474468T>C | CA2628334510 | FBN1 | c.4087+60A>G (n.4087+60A>G) n.2761+60A>G c.759+60A>G (n.759+60A>G) | gnomAD v4 |
15 | g.48474471del | CA2628334508 | FBN1 | c.4087+60del (n.4087+60del) n.2761+60del c.759+60del (n.759+60del) | gnomAD v4 |
15 | g.48474471T>C | CA2628334511 | FBN1 | c.4087+57A>G (n.4087+57A>G) n.2761+57A>G c.759+57A>G (n.759+57A>G) | gnomAD v4 |
15 | g.48474472C>T | CA2628334512 | FBN1 | c.4087+56G>A (n.4087+56G>A) n.2761+56G>A c.759+56G>A (n.759+56G>A) | gnomAD v4 |
15 | g.48474473A>G | CA2628334513 | FBN1 | c.4087+55T>C (n.4087+55T>C) n.2761+55T>C c.759+55T>C (n.759+55T>C) | gnomAD v4 |
15 | g.48474474T>A | CA2628334514 | FBN1 | c.4087+54A>T (n.4087+54A>T) n.2761+54A>T c.759+54A>T (n.759+54A>T) | gnomAD v4 |
15 | g.48474474T>C | CA2575717247 | FBN1 | c.4087+54A>G (n.4087+54A>G) n.2761+54A>G c.759+54A>G (n.759+54A>G) | |
15 | g.48474476T>A | CA2628334515 | FBN1 | c.4087+52A>T (n.4087+52A>T) n.2761+52A>T c.759+52A>T (n.759+52A>T) | gnomAD v4 |
15 | g.48474476T>C | CA2628334516 | FBN1 | c.4087+52A>G (n.4087+52A>G) n.2761+52A>G c.759+52A>G (n.759+52A>G) | gnomAD v4 |
15 | g.48474477G>T | CA2628334517 | FBN1 | c.4087+51C>A (n.4087+51C>A) n.2761+51C>A c.759+51C>A (n.759+51C>A) | gnomAD v4 |
15 | g.48474478T>G | CA617833893 | FBN1 | c.4087+50A>C (n.4087+50A>C) n.2761+50A>C c.759+50A>C (n.759+50A>C) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48474478T= | CA2175495715 | FBN1 | c.4087+50A= (n.4087+50A=) n.2761+50A= c.759+50A= (n.759+50A=) | |
15 | g.48474479G>A | CA617833894 | FBN1 | c.4087+49C>T (n.4087+49C>T) n.2761+49C>T c.759+49C>T (n.759+49C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48474479G= | CA2175495719 | FBN1 | c.4087+49C= (n.4087+49C=) n.2761+49C= c.759+49C= (n.759+49C=) | |
15 | g.48474480T>C | CA2628334518 | FBN1 | c.4087+48A>G (n.4087+48A>G) n.2761+48A>G c.759+48A>G (n.759+48A>G) | gnomAD v4 |
15 | g.48474481_48474482insTTATTGGTTTTAAATACCACCCTTTCTGTTAATAATG | CA2519040556 | FBN1 | c.4087+46_4087+47insCATTATTAACAGAAAGGGTGGTATTTAAAACCAATAA (n.4087+46_4087+47insCATTATTAACAGAAAGGGTGGTATTTAAAACCAATAA) n.2761+46_2761+47insCATTATTAACAGAAAGGGTGGTATTTAAAACCAATAA c.759+46_759+47insCATTATTAACAGAAAGGGTGGTATTTAAAACCAATAA (n.759+46_759+47insCATTATTAACAGAAAGGGTGGTATTTAAAACCAATAA) | |
15 | g.48474482A= | CA2175495723 | FBN1 | c.4087+46T= (n.4087+46T=) n.2761+46T= c.759+46T= (n.759+46T=) | |
15 | g.48474482A>G | CA052015 | FBN1 | c.4087+46T>C (n.4087+46T>C) n.2761+46T>C c.759+46T>C (n.759+46T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48474483T>A | CA2581214163 | FBN1 | c.4087+45A>T (n.4087+45A>T) n.2761+45A>T c.759+45A>T (n.759+45A>T) | |
15 | g.48474483T>C | CA052007 | FBN1 | c.4087+45A>G (n.4087+45A>G) n.2761+45A>G c.759+45A>G (n.759+45A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48474483T>G | CA2581214162 | FBN1 | c.4087+45A>C (n.4087+45A>C) n.2761+45A>C c.759+45A>C (n.759+45A>C) | |
15 | g.48474483T= | CA2175495731 | FBN1 | c.4087+45A= (n.4087+45A=) n.2761+45A= c.759+45A= (n.759+45A=) | |
15 | g.48474485T>C | CA052000 | FBN1 | c.4087+43A>G (n.4087+43A>G) n.2761+43A>G c.759+43A>G (n.759+43A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48474485T= | CA2175495735 | FBN1 | c.4087+43A= (n.4087+43A=) n.2761+43A= c.759+43A= (n.759+43A=) | |
15 | g.48474486A>G | CA2628334519 | FBN1 | c.4087+42T>C (n.4087+42T>C) n.2761+42T>C c.759+42T>C (n.759+42T>C) | gnomAD v4 |
15 | g.48474487T>C | CA051993 | FBN1 | c.4087+41A>G (n.4087+41A>G) n.2761+41A>G c.759+41A>G (n.759+41A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48474487T= | CA2175495742 | FBN1 | c.4087+41A= (n.4087+41A=) n.2761+41A= c.759+41A= (n.759+41A=) | |
15 | g.48474488G>T | CA2628334520 | FBN1 | c.4087+40C>A (n.4087+40C>A) n.2761+40C>A c.759+40C>A (n.759+40C>A) | gnomAD v4 |
15 | g.48474489C= | CA2175495744 | FBN1 | c.4087+39G= (n.4087+39G=) n.2761+39G= c.759+39G= (n.759+39G=) | |
15 | g.48474489C>T | CA051990 | FBN1 | c.4087+39G>A (n.4087+39G>A) n.2761+39G>A c.759+39G>A (n.759+39G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48474492T>A | CA2575717263 | FBN1 | c.4087+36A>T (n.4087+36A>T) n.2761+36A>T c.759+36A>T (n.759+36A>T) | |
15 | g.48474492T>C | CA617833900 | FBN1 | c.4087+36A>G (n.4087+36A>G) n.2761+36A>G c.759+36A>G (n.759+36A>G) | dbSNP gnomAD v2 |
15 | g.48474492T= | CA2175495748 | FBN1 | c.4087+36A= (n.4087+36A=) n.2761+36A= c.759+36A= (n.759+36A=) | |
15 | g.48474492_48474503delinsTCCTTGATAAGC | CA2175495749 | FBN1 | c.4087+25_4087+36delinsGCTTATCAAGGA (n.4087+25_4087+36delinsGCTTATCAAGGA) n.2761+25_2761+36delinsGCTTATCAAGGA c.759+25_759+36delinsGCTTATCAAGGA (n.759+25_759+36delinsGCTTATCAAGGA) | |
15 | g.48474493C>A | CA2575717267 | FBN1 | c.4087+35G>T (n.4087+35G>T) n.2761+35G>T c.759+35G>T (n.759+35G>T) | |
15 | g.48474493_48474503del | CA2175495752 | FBN1 | c.4087+25_4087+35del (n.4087+25_4087+35del) n.2761+25_2761+35del c.759+25_759+35del (n.759+25_759+35del) | dbSNP gnomAD v4 |
15 | g.48474494C>A | CA2575717269 | FBN1 | c.4087+34G>T (n.4087+34G>T) n.2761+34G>T c.759+34G>T (n.759+34G>T) | |
15 | g.48474494C>T | CA2628334521 | FBN1 | c.4087+34G>A (n.4087+34G>A) n.2761+34G>A c.759+34G>A (n.759+34G>A) | gnomAD v4 |
15 | g.48474497G>A | CA2628334522 | FBN1 | c.4087+31C>T (n.4087+31C>T) n.2761+31C>T c.759+31C>T (n.759+31C>T) | gnomAD v4 |
15 | g.48474499T>A | CA2628334523 | FBN1 | c.4087+29A>T (n.4087+29A>T) n.2761+29A>T c.759+29A>T (n.759+29A>T) | dbSNP gnomAD v4 |
15 | g.48474499T>C | CA2575717271 | FBN1 | c.4087+29A>G (n.4087+29A>G) n.2761+29A>G c.759+29A>G (n.759+29A>G) | |
15 | g.48474499T>G | CA713414292 | FBN1 | c.4087+29A>C (n.4087+29A>C) n.2761+29A>C c.759+29A>C (n.759+29A>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48474499T= | CA2175495753 | FBN1 | c.4087+29A= (n.4087+29A=) n.2761+29A= c.759+29A= (n.759+29A=) | |
15 | g.48474501A>G | CA2628334524 | FBN1 | c.4087+27T>C (n.4087+27T>C) n.2761+27T>C c.759+27T>C (n.759+27T>C) | gnomAD v4 |
15 | g.48474503C>A | CA2741424793 | FBN1 | c.4087+25G>T (n.4087+25G>T) n.2761+25G>T c.759+25G>T (n.759+25G>T) | |
15 | g.48474503C>T | CA2628334525 | FBN1 | c.4087+25G>A (n.4087+25G>A) n.2761+25G>A c.759+25G>A (n.759+25G>A) | gnomAD v4 |
15 | g.48474504A>C | CA2741424796 | FBN1 | c.4087+24T>G (n.4087+24T>G) n.2761+24T>G c.759+24T>G (n.759+24T>G) | |
15 | g.48474504A>G | CA2730866940 | FBN1 | c.4087+24T>C (n.4087+24T>C) n.2761+24T>C c.759+24T>C (n.759+24T>C) | dbSNP |
15 | g.48474506C= | CA2175495756 | FBN1 | c.4087+22G= (n.4087+22G=) n.2761+22G= c.759+22G= (n.759+22G=) | |
15 | g.48474506C>G | CA2628334526 | FBN1 | c.4087+22G>C (n.4087+22G>C) n.2761+22G>C c.759+22G>C (n.759+22G>C) | gnomAD v4 |
15 | g.48474506C>T | CA713414296 | FBN1 | c.4087+22G>A (n.4087+22G>A) n.2761+22G>A c.759+22G>A (n.759+22G>A) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48474507C>A | CA051980 | FBN1 | c.4087+21G>T (n.4087+21G>T) n.2761+21G>T c.759+21G>T (n.759+21G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48474507C= | CA2175495759 | FBN1 | c.4087+21G= (n.4087+21G=) n.2761+21G= c.759+21G= (n.759+21G=) | |
15 | g.48474514A>T | CA2628334527 | FBN1 | c.4087+14T>A (n.4087+14T>A) n.2761+14T>A c.759+14T>A (n.759+14T>A) | gnomAD v4 |
15 | g.48474516T>C | CA2575717272 | FBN1 | c.4087+12A>G (n.4087+12A>G) n.2761+12A>G c.759+12A>G (n.759+12A>G) | |
15 | g.48474520C= | CA2175495768 | FBN1 | c.4087+8G= (n.4087+8G=) n.2761+8G= c.759+8G= (n.759+8G=) | |
15 | g.48474520C>T | CA2175495771 | FBN1 | c.4087+8G>A (n.4087+8G>A) n.2761+8G>A c.759+8G>A (n.759+8G>A) | dbSNP gnomAD v4 |
15 | g.48474522A= | CA2175495775 | FBN1 | c.4087+6T= (n.4087+6T=) n.2761+6T= c.759+6T= (n.759+6T=) | |
15 | g.48474522A>G | CA269520510 | FBN1 | c.4087+6T>C (n.4087+6T>C) n.2761+6T>C c.759+6T>C (n.759+6T>C) | dbSNP |
15 | g.48474522A>T | CA658798359 | FBN1 | c.4087+6T>A (n.4087+6T>A) n.2761+6T>A c.759+6T>A (n.759+6T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.48474523C= | CA2175495809 | FBN1 | c.4087+5G= (n.4087+5G=) n.2761+5G= c.759+5G= (n.759+5G=) | |
15 | g.48474523C>T | CA658824322 | FBN1 | c.4087+5G>A (n.4087+5G>A) n.2761+5G>A c.759+5G>A (n.759+5G>A) | ClinVar dbSNP |
15 | g.48474524T>C | CA2695220635 | FBN1 | c.4087+4A>G (n.4087+4A>G) n.2761+4A>G c.759+4A>G (n.759+4A>G) | |
15 | g.48474525C>G | CA2695220636 | FBN1 | c.4087+3G>C (n.4087+3G>C) n.2761+3G>C c.759+3G>C (n.759+3G>C) | |
15 | g.48474526A>C | CA392320390 | FBN1 | c.4087+2T>G (n.4087+2T>G) n.2761+2T>G c.759+2T>G (n.759+2T>G) | |
15 | g.48474526A>G | CA392320391 | FBN1 | c.4087+2T>C (n.4087+2T>C) n.2761+2T>C c.759+2T>C (n.759+2T>C) | |
15 | g.48474526A>T | CA392320392 | FBN1 | c.4087+2T>A (n.4087+2T>A) n.2761+2T>A c.759+2T>A (n.759+2T>A) | |
15 | g.48474527C>A | CA392320393 | FBN1 | c.4087+1G>T (n.4087+1G>T) n.2761+1G>T c.759+1G>T (n.759+1G>T) | |
15 | g.48474527C= | CA2175495814 | FBN1 | c.4087+1G= (n.4087+1G=) n.2761+1G= c.759+1G= (n.759+1G=) | |
15 | g.48474527C>G | CA392320394 | FBN1 | c.4087+1G>C (n.4087+1G>C) n.2761+1G>C c.759+1G>C (n.759+1G>C) | |
15 | g.48474527C>T | CA014744 | FBN1 | c.4087+1G>A (n.4087+1G>A) n.2761+1G>A c.759+1G>A (n.759+1G>A) | ClinVar dbSNP |
15 | g.48474528C>A | CA392320395 | FBN1 | c.4087G>T (p.Asp1363Tyr) n.2761G>T c.759G>T (p.Leu253=) | ClinVar |
15 | g.48474528C>G | CA392320396 | FBN1 | c.4087G>C (p.Asp1363His) n.2761G>C c.759G>C (p.Leu253=) | |
15 | g.48474528C>T | CA392320397 | FBN1 | c.4087G>A (p.Asp1363Asn) n.2761G>A c.759G>A (p.Leu253=) | ClinVar |
15 | g.48474529A>C | CA490015171 | FBN1 | c.4086T>G (p.Thr1362=) n.2760T>G c.758T>G (p.Leu253Arg) | |
15 | g.48474529A>G | CA490015172 | FBN1 | c.4086T>C (p.Thr1362=) n.2760T>C c.758T>C (p.Leu253Pro) | gnomAD v4 |
15 | g.48474529A>T | CA490015173 | FBN1 | c.4086T>A (p.Thr1362=) n.2760T>A c.758T>A (p.Leu253Gln) | |
15 | g.48474530G>A | CA392320400 | FBN1 | c.4085C>T (p.Thr1362Ile) n.2759C>T c.757C>T (p.Leu253=) | |
15 | g.48474530G>C | CA392320399 | FBN1 | c.4085C>G (p.Thr1362Ser) n.2759C>G c.757C>G (p.Leu253Val) | ClinVar |
15 | g.48474530G>T | CA392320398 | FBN1 | c.4085C>A (p.Thr1362Asn) n.2759C>A c.757C>A (p.Leu253Met) | |
15 | g.48474531T>A | CA392320403 | FBN1 | c.4084A>T (p.Thr1362Ser) n.2758A>T c.756A>T (p.Ala252=) | |
15 | g.48474531T>C | CA392320401 | FBN1 | c.4084A>G (p.Thr1362Ala) n.2758A>G c.756A>G (p.Ala252=) | |
15 | g.48474531T>G | CA392320402 | FBN1 | c.4084A>C (p.Thr1362Pro) n.2758A>C c.756A>C (p.Ala252=) | ClinVar dbSNP |
15 | g.48474531T= | CA2175495821 | FBN1 | c.4084A= (p.Thr1362=) n.2758A= c.756A= (p.Ala252=) | |
15 | g.48474532G>A | CA490015178 | FBN1 | c.4083C>T (p.Cys1361=) n.2757C>T c.755C>T (p.Ala252Val) | |
15 | g.48474532G>C | CA392320404 | FBN1 | c.4083C>G (p.Cys1361Trp) n.2757C>G c.755C>G (p.Ala252Gly) | |
15 | g.48474532G>T | CA392320405 | FBN1 | c.4083C>A (p.Cys1361Ter) n.2757C>A c.755C>A (p.Ala252Glu) | |
15 | g.48474533C>A | CA392320406 | FBN1 | c.4082G>T (p.Cys1361Phe) n.2756G>T c.754G>T (p.Ala252Ser) | |
15 | g.48474533C= | CA2175495827 | FBN1 | c.4082G= (p.Cys1361=) n.2756G= c.754G= (p.Ala252=) | |
15 | g.48474533C>G | CA392320407 | FBN1 | c.4082G>C (p.Cys1361Ser) n.2756G>C c.754G>C (p.Ala252Pro) | |
15 | g.48474533C>T | CA392320408 | FBN1 | c.4082G>A (p.Cys1361Tyr) n.2756G>A c.754G>A (p.Ala252Thr) | ClinVar dbSNP |
15 | g.48474533_48474534delinsTT | CA2695220637 | FBN1 | c.4081_4082delinsAA (p.Cys1361Asn) n.2755_2756delinsAA c.753_754delinsAA (p.Ser251_Ala252delinsArgThr) | |
15 | g.48474534A= | CA2175495838 | FBN1 | c.4081T= (p.Cys1361=) n.2755T= c.753T= (p.Ser251=) | |
15 | g.48474534A>C | CA392320409 | FBN1 | c.4081T>G (p.Cys1361Gly) n.2755T>G c.753T>G (p.Ser251Arg) | |
15 | g.48474534A>G | CA392320410 | FBN1 | c.4081T>C (p.Cys1361Arg) n.2755T>C c.753T>C (p.Ser251=) | ClinVar dbSNP |
15 | g.48474534A>T | CA392320411 | FBN1 | c.4081T>A (p.Cys1361Ser) n.2755T>A c.753T>A (p.Ser251Arg) | |
15 | g.48474535C>A | CA392320412 | FBN1 | c.4080G>T (p.Lys1360Asn) n.2754G>T c.752G>T (p.Ser251Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.48474535C= | CA2175495842 | FBN1 | c.4080G= (p.Lys1360=) n.2754G= c.752G= (p.Ser251=) | |
15 | g.48474535C>G | CA392320413 | FBN1 | c.4080G>C (p.Lys1360Asn) n.2754G>C c.752G>C (p.Ser251Thr) | |
15 | g.48474535C>T | CA490015179 | FBN1 | c.4080G>A (p.Lys1360=) n.2754G>A c.752G>A (p.Ser251Asn) | |
15 | g.48474536T>A | CA392320415 | FBN1 | c.4079A>T (p.Lys1360Met) n.2753A>T c.751A>T (p.Ser251Cys) | |
15 | g.48474536T>C | CA392320416 | FBN1 | c.4079A>G (p.Lys1360Arg) n.2753A>G c.751A>G (p.Ser251Gly) | |
15 | g.48474536T>G | CA392320414 | FBN1 | c.4079A>C (p.Lys1360Thr) n.2753A>C c.751A>C (p.Ser251Arg) | |
15 | g.48474537del | CA2573150844 | FBN1 | c.4079del (p.Lys1360SerfsTer?) n.2753del c.751del (p.Ser251ValfsTer3) | ClinVar dbSNP |
15 | g.48474537T>A | CA392320417 | FBN1 | c.4078A>T (p.Lys1360Ter) n.2752A>T c.750A>T (p.Leu250Phe) | |
15 | g.48474537T>C | CA392320418 | FBN1 | c.4078A>G (p.Lys1360Glu) n.2752A>G c.750A>G (p.Leu250=) | dbSNP gnomAD v2 |
15 | g.48474537T>G | CA392320419 | FBN1 | c.4078A>C (p.Lys1360Gln) n.2752A>C c.750A>C (p.Leu250Phe) | |
15 | g.48474537T= | CA2175495849 | FBN1 | c.4078A= (p.Lys1360=) n.2752A= c.750A= (p.Leu250=) | |
15 | g.48474538A= | CA2175495869 | FBN1 | c.4077T= (p.Ile1359=) n.2751T= c.749T= (p.Leu250=) | |
15 | g.48474538A>C | CA392320420 | FBN1 | c.4077T>G (p.Ile1359Met) n.2751T>G c.749T>G (p.Leu250Ter) | |
15 | g.48474538A>G | CA490015187 | FBN1 | c.4077T>C (p.Ile1359=) n.2751T>C c.749T>C (p.Leu250Ser) | |
15 | g.48474538A>T | CA051976 | FBN1 | c.4077T>A (p.Ile1359=) n.2751T>A c.749T>A (p.Leu250Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48474539A>C | CA392320423 | FBN1 | c.4076T>G (p.Ile1359Ser) n.2750T>G c.748T>G (p.Leu250Val) | |
15 | g.48474539A>G | CA392320421 | FBN1 | c.4076T>C (p.Ile1359Thr) n.2750T>C c.748T>C (p.Leu250=) | |
15 | g.48474539A>T | CA392320422 | FBN1 | c.4076T>A (p.Ile1359Asn) n.2750T>A c.748T>A (p.Leu250Ile) | |
15 | g.48474540T>A | CA392320424 | FBN1 | c.4075A>T (p.Ile1359Phe) n.2749A>T c.747A>T (p.Ala249=) | |
15 | g.48474540T>C | CA051965 | FBN1 | c.4075A>G (p.Ile1359Val) n.2749A>G c.747A>G (p.Ala249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48474540T>G | CA392320425 | FBN1 | c.4075A>C (p.Ile1359Leu) n.2749A>C c.747A>C (p.Ala249=) | |
15 | g.48474540T= | CA2175495879 | FBN1 | c.4075A= (p.Ile1359=) n.2749A= c.747A= (p.Ala249=) | |
15 | g.48474541G>A | CA490015194 | FBN1 | c.4074C>T (p.Gly1358=) n.2748C>T c.746C>T (p.Ala249Val) | |
15 | g.48474541G>C | CA490015195 | FBN1 | c.4074C>G (p.Gly1358=) n.2748C>G c.746C>G (p.Ala249Gly) | |
15 | g.48474541G= | CA2175495906 | FBN1 | c.4074C= (p.Gly1358=) n.2748C= c.746C= (p.Ala249=) | |
15 | g.48474541G>T | CA490015197 | FBN1 | c.4074C>A (p.Gly1358=) n.2748C>A c.746C>A (p.Ala249Glu) | ClinVar dbSNP |
15 | g.48474542C>A | CA392320426 | FBN1 | c.4073G>T (p.Gly1358Val) n.2747G>T c.745G>T (p.Ala249Ser) | |
15 | g.48474542C>G | CA392320427 | FBN1 | c.4073G>C (p.Gly1358Ala) n.2747G>C c.745G>C (p.Ala249Pro) | |
15 | g.48474542C>T | CA392320428 | FBN1 | c.4073G>A (p.Gly1358Asp) n.2747G>A c.745G>A (p.Ala249Thr) | gnomAD v4 |
15 | g.48474543C>A | CA392320430 | FBN1 | c.4072G>T (p.Gly1358Cys) n.2746G>T c.744G>T (p.Met248Ile) | gnomAD v4 |
15 | g.48474543C= | CA2175495908 | FBN1 | c.4072G= (p.Gly1358=) n.2746G= c.744G= (p.Met248=) | |
15 | g.48474543C>G | CA392320431 | FBN1 | c.4072G>C (p.Gly1358Arg) n.2746G>C c.744G>C (p.Met248Ile) | |
15 | g.48474543C>T | CA392320429 | FBN1 | c.4072G>A (p.Gly1358Ser) n.2746G>A c.744G>A (p.Met248Ile) | ClinVar dbSNP |
15 | g.48474544A>C | CA392320432 | FBN1 | c.4071T>G (p.Asp1357Glu) n.2745T>G c.743T>G (p.Met248Arg) | |
15 | g.48474544A>G | CA490015203 | FBN1 | c.4071T>C (p.Asp1357=) n.2745T>C c.743T>C (p.Met248Thr) | |
15 | g.48474544A>T | CA392320433 | FBN1 | c.4071T>A (p.Asp1357Glu) n.2745T>A c.743T>A (p.Met248Lys) | |
15 | g.48474545T>A | CA392320434 | FBN1 | c.4070A>T (p.Asp1357Val) n.2744A>T c.742A>T (p.Met248Leu) | |
15 | g.48474545T>C | CA392320435 | FBN1 | c.4070A>G (p.Asp1357Gly) n.2744A>G c.742A>G (p.Met248Val) | gnomAD v4 |
15 | g.48474545T>G | CA392320436 | FBN1 | c.4070A>C (p.Asp1357Ala) n.2744A>C c.742A>C (p.Met248Leu) | |
15 | g.48474546C>A | CA392320437 | FBN1 | c.4069G>T (p.Asp1357Tyr) n.2743G>T c.741G>T (p.Glu247Asp) | |
15 | g.48474546C>G | CA392320438 | FBN1 | c.4069G>C (p.Asp1357His) n.2743G>C c.741G>C (p.Glu247Asp) | |
15 | g.48474546C>T | CA392320439 | FBN1 | c.4069G>A (p.Asp1357Asn) n.2743G>A c.741G>A (p.Glu247=) | |
15 | g.48474547T>A | CA490015212 | FBN1 | c.4068A>T (p.Gly1356=) n.2742A>T c.740A>T (p.Glu247Val) | |
15 | g.48474547T>C | CA490015214 | FBN1 | c.4068A>G (p.Gly1356=) n.2742A>G c.740A>G (p.Glu247Gly) | |
15 | g.48474547T>G | CA490015213 | FBN1 | c.4068A>C (p.Gly1356=) n.2742A>C c.740A>C (p.Glu247Ala) | ClinVar dbSNP |
15 | g.48474547T= | CA2175495916 | FBN1 | c.4068A= (p.Gly1356=) n.2742A= c.740A= (p.Glu247=) | |
15 | g.48474548C>A | CA392320441 | FBN1 | c.4067G>T (p.Gly1356Val) n.2741G>T c.739G>T (p.Glu247Ter) | |
15 | g.48474548C>G | CA392320443 | FBN1 | c.4067G>C (p.Gly1356Ala) n.2741G>C c.739G>C (p.Glu247Gln) | gnomAD v4 |
15 | g.48474548C>T | CA392320444 | FBN1 | c.4067G>A (p.Gly1356Glu) n.2741G>A c.739G>A (p.Glu247Lys) | |
15 | g.48474549C>A | CA269520519 | FBN1 | c.4066G>T (p.Gly1356Ter) n.2740G>T c.738G>T (p.Leu246Phe) | dbSNP |
15 | g.48474549C= | CA2175495921 | FBN1 | c.4066G= (p.Gly1356=) n.2740G= c.738G= (p.Leu246=) | |
15 | g.48474549C>G | CA392320445 | FBN1 | c.4066G>C (p.Gly1356Arg) n.2740G>C c.738G>C (p.Leu246Phe) | |
15 | g.48474549C>T | CA392320446 | FBN1 | c.4066G>A (p.Gly1356Arg) n.2740G>A c.738G>A (p.Leu246=) | ClinVar dbSNP gnomAD v4 |
15 | g.48474550A= | CA2175495927 | FBN1 | c.4065T= (p.Ile1355=) n.2739T= c.737T= (p.Leu246=) | |
15 | g.48474550A>C | CA392320447 | FBN1 | c.4065T>G (p.Ile1355Met) n.2739T>G c.737T>G (p.Leu246Trp) | |
15 | g.48474550A>G | CA490015217 | FBN1 | c.4065T>C (p.Ile1355=) n.2739T>C c.737T>C (p.Leu246Ser) | |
15 | g.48474550A>T | CA490015218 | FBN1 | c.4065T>A (p.Ile1355=) n.2739T>A c.737T>A (p.Leu246Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.48474551A= | CA2175495930 | FBN1 | c.4064T= (p.Ile1355=) n.2738T= c.736T= (p.Leu246=) | |
15 | g.48474551A>C | CA392320449 | FBN1 | c.4064T>G (p.Ile1355Ser) n.2738T>G c.736T>G (p.Leu246Val) | |
15 | g.48474551A>G | CA051955 | FBN1 | c.4064T>C (p.Ile1355Thr) n.2738T>C c.736T>C (p.Leu246=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48474551A>T | CA392320448 | FBN1 | c.4064T>A (p.Ile1355Asn) n.2738T>A c.736T>A (p.Leu246Met) | |
15 | g.48474552T>A | CA392320450 | FBN1 | c.4063A>T (p.Ile1355Phe) n.2737A>T c.735A>T (p.Gly245=) | |
15 | g.48474552T>C | CA392320451 | FBN1 | c.4063A>G (p.Ile1355Val) n.2737A>G c.735A>G (p.Gly245=) | |
15 | g.48474552T>G | CA392320452 | FBN1 | c.4063A>C (p.Ile1355Leu) n.2737A>C c.735A>C (p.Gly245=) | |
15 | g.48474553C>A | CA392320453 | FBN1 | c.4062G>T (p.Trp1354Cys) n.2736G>T c.734G>T (p.Gly245Val) | |
15 | g.48474553C= | CA2175495937 | FBN1 | c.4062G= (p.Trp1354=) n.2736G= c.734G= (p.Gly245=) | |
15 | g.48474553C>G | CA392320454 | FBN1 | c.4062G>C (p.Trp1354Cys) n.2736G>C c.734G>C (p.Gly245Ala) | |
15 | g.48474553C>T | CA014736 | FBN1 | c.4062G>A (p.Trp1354Ter) n.2736G>A c.734G>A (p.Gly245Glu) | ClinVar dbSNP |
15 | g.48474554C>A | CA392320455 | FBN1 | c.4061G>T (p.Trp1354Leu) n.2735G>T c.733G>T (p.Gly245Ter) | |
15 | g.48474554C= | CA2175495942 | FBN1 | c.4061G= (p.Trp1354=) n.2735G= c.733G= (p.Gly245=) | |
15 | g.48474554C>G | CA392320456 | FBN1 | c.4061G>C (p.Trp1354Ser) n.2735G>C c.733G>C (p.Gly245Arg) | |
15 | g.48474554C>T | CA16614649 | FBN1 | c.4061G>A (p.Trp1354Ter) n.2735G>A c.733G>A (p.Gly245Arg) | ClinVar dbSNP |
15 | g.48474554_48474555delinsCA | CA2175495945 | FBN1 | c.4060_4061delinsTG (p.Trp1354=) n.2734_2735delinsTG c.732_733delinsTG (p.Gly244=) | |
15 | g.48474555del | CA658683885 | FBN1 | c.4060del (p.Trp1354GlyfsTer?) n.2734del c.732del (p.Gly245AspfsTer6) | ClinVar dbSNP |
15 | g.48474555A>C | CA392320457 | FBN1 | c.4060T>G (p.Trp1354Gly) n.2734T>G c.732T>G (p.Gly244=) | |
15 | g.48474555A>G | CA392320458 | FBN1 | c.4060T>C (p.Trp1354Arg) n.2734T>C c.732T>C (p.Gly244=) | |
15 | g.48474555A>T | CA392320459 | FBN1 | c.4060T>A (p.Trp1354Arg) n.2734T>A c.732T>A (p.Gly244=) |