Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
15 | g.48474556C>A | CA10587203 | FBN1 | c.4059G>T (p.Gly1353=) n.2733G>T c.731G>T (p.Gly244Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48474556C= | CA2175495958 | FBN1 | c.4059G= (p.Gly1353=) n.2733G= c.731G= (p.Gly244=) | |
15 | g.48474556C>G | CA490015227 | FBN1 | c.4059G>C (p.Gly1353=) n.2733G>C c.731G>C (p.Gly244Ala) | |
15 | g.48474556C>T | CA490015228 | FBN1 | c.4059G>A (p.Gly1353=) n.2733G>A c.731G>A (p.Gly244Asp) | gnomAD v4 |
15 | g.48474556_48474561del | CA2695220638 | FBN1 | c.4054_4059del (p.Pro1352_Gly1353del) n.2728_2733del c.726_731del (p.Pro243_Gly244del) | |
15 | g.48474557C>A | CA392320462 | FBN1 | c.4058G>T (p.Gly1353Val) n.2732G>T c.730G>T (p.Gly244Cys) | |
15 | g.48474557C>G | CA392320460 | FBN1 | c.4058G>C (p.Gly1353Ala) n.2732G>C c.730G>C (p.Gly244Arg) | |
15 | g.48474557C>T | CA392320461 | FBN1 | c.4058G>A (p.Gly1353Glu) n.2732G>A c.730G>A (p.Gly244Ser) | |
15 | g.48474558C>A | CA051936 | FBN1 | c.4057G>T (p.Gly1353Trp) n.2731G>T c.729G>T (p.Pro243=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
15 | g.48474558C= | CA2175495976 | FBN1 | c.4057G= (p.Gly1353=) n.2731G= c.729G= (p.Pro243=) | |
15 | g.48474558C>G | CA392320463 | FBN1 | c.4057G>C (p.Gly1353Arg) n.2731G>C c.729G>C (p.Pro243=) | ClinVar dbSNP |
15 | g.48474558C>T | CA392320464 | FBN1 | c.4057G>A (p.Gly1353Arg) n.2731G>A c.729G>A (p.Pro243=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48474558_48474559delinsCG | CA2175495978 | FBN1 | c.4056_4057delinsCG (p.Pro1352=) n.2730_2731delinsCG c.728_729delinsCG (p.Pro243=) | |
15 | g.48474558_48474559insTTTCTGTTAATAAT | CA2175495997 | FBN1 | c.4056_4057insATTATTAACAGAAA (p.Gly1353IlefsTer?) n.2730_2731insATTATTAACAGAAA c.728_729insATTATTAACAGAAA (p.Gly244LeufsTer12) | dbSNP |
15 | g.48474559G>A | CA051928 | FBN1 | c.4056C>T (p.Pro1352=) n.2730C>T c.728C>T (p.Pro243Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48474559G>C | CA490015232 | FBN1 | c.4056C>G (p.Pro1352=) n.2730C>G c.728C>G (p.Pro243Arg) | |
15 | g.48474559G= | CA2175496000 | FBN1 | c.4056C= (p.Pro1352=) n.2730C= c.728C= (p.Pro243=) | |
15 | g.48474559G>T | CA051925 | FBN1 | c.4056C>A (p.Pro1352=) n.2730C>A c.728C>A (p.Pro243Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48474561del | CA658824323 | FBN1 | c.4056del (p.Trp1354GlyfsTer?) n.2730del c.728del (p.Pro243ArgfsTer8) | ClinVar dbSNP |
15 | g.48474560G>A | CA392320465 | FBN1 | c.4055C>T (p.Pro1352Leu) n.2729C>T c.727C>T (p.Pro243Ser) | gnomAD v4 COSMIC |
15 | g.48474560G>C | CA392320466 | FBN1 | c.4055C>G (p.Pro1352Arg) n.2729C>G c.727C>G (p.Pro243Ala) | |
15 | g.48474560G= | CA2175496014 | FBN1 | c.4055C= (p.Pro1352=) n.2729C= c.727C= (p.Pro243=) | |
15 | g.48474560G>T | CA392320467 | FBN1 | c.4055C>A (p.Pro1352His) n.2729C>A c.727C>A (p.Pro243Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48474561G>A | CA051917 | FBN1 | c.4054C>T (p.Pro1352Ser) n.2728C>T c.726C>T (p.Val242=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48474561G>C | CA269520535 | FBN1 | c.4054C>G (p.Pro1352Ala) n.2728C>G c.726C>G (p.Val242=) | dbSNP |
15 | g.48474561G= | CA2175496018 | FBN1 | c.4054C= (p.Pro1352=) n.2728C= c.726C= (p.Val242=) | |
15 | g.48474561G>T | CA392320468 | FBN1 | c.4054C>A (p.Pro1352Thr) n.2728C>A c.726C>A (p.Val242=) | |
15 | g.48474562A>C | CA392320470 | FBN1 | c.4053T>G (p.Ser1351Arg) n.2727T>G c.725T>G (p.Val242Gly) | |
15 | g.48474562A>G | CA490015233 | FBN1 | c.4053T>C (p.Ser1351=) n.2727T>C c.725T>C (p.Val242Ala) | |
15 | g.48474562A>T | CA392320469 | FBN1 | c.4053T>A (p.Ser1351Arg) n.2727T>A c.725T>A (p.Val242Asp) | |
15 | g.48474563C>A | CA392320471 | FBN1 | c.4052G>T (p.Ser1351Ile) n.2726G>T c.724G>T (p.Val242Phe) | |
15 | g.48474563C= | CA2175496032 | FBN1 | c.4052G= (p.Ser1351=) n.2726G= c.724G= (p.Val242=) | |
15 | g.48474563C>G | CA392320472 | FBN1 | c.4052G>C (p.Ser1351Thr) n.2726G>C c.724G>C (p.Val242Leu) | |
15 | g.48474563C>T | CA392320473 | FBN1 | c.4052G>A (p.Ser1351Asn) n.2726G>A c.724G>A (p.Val242Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48474564T>A | CA392320474 | FBN1 | c.4051A>T (p.Ser1351Cys) n.2725A>T c.723A>T (p.Ala241=) | COSMIC |
15 | g.48474564T>C | CA392320475 | FBN1 | c.4051A>G (p.Ser1351Gly) n.2725A>G c.723A>G (p.Ala241=) | gnomAD v4 |
15 | g.48474564T>G | CA392320476 | FBN1 | c.4051A>C (p.Ser1351Arg) n.2725A>C c.723A>C (p.Ala241=) | |
15 | g.48474565G>A | CA269520539 | FBN1 | c.4050C>T (p.Cys1350=) n.2724C>T c.722C>T (p.Ala241Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.48474565G>C | CA392320477 | FBN1 | c.4050C>G (p.Cys1350Trp) n.2724C>G c.722C>G (p.Ala241Gly) | |
15 | g.48474565G= | CA2175496040 | FBN1 | c.4050C= (p.Cys1350=) n.2724C= c.722C= (p.Ala241=) | |
15 | g.48474565G>T | CA014724 | FBN1 | c.4050C>A (p.Cys1350Ter) n.2724C>A c.722C>A (p.Ala241Glu) | ClinVar dbSNP |
15 | g.48474566C>A | CA392320478 | FBN1 | c.4049G>T (p.Cys1350Phe) n.2723G>T c.721G>T (p.Ala241Ser) | ClinVar dbSNP |
15 | g.48474566C= | CA2175496055 | FBN1 | c.4049G= (p.Cys1350=) n.2723G= c.721G= (p.Ala241=) | |
15 | g.48474566C>G | CA392320479 | FBN1 | c.4049G>C (p.Cys1350Ser) n.2723G>C c.721G>C (p.Ala241Pro) | |
15 | g.48474566C>T | CA392320480 | FBN1 | c.4049G>A (p.Cys1350Tyr) n.2723G>A c.721G>A (p.Ala241Thr) | ClinVar dbSNP |
15 | g.48474567A= | CA2175496082 | FBN1 | c.4048T= (p.Cys1350=) n.2722T= c.720T= (p.Ala240=) | |
15 | g.48474567A>C | CA392320481 | FBN1 | c.4048T>G (p.Cys1350Gly) n.2722T>G c.720T>G (p.Ala240=) | ClinVar dbSNP |
15 | g.48474567A>G | CA16616744 | FBN1 | c.4048T>C (p.Cys1350Arg) n.2722T>C c.720T>C (p.Ala240=) | ClinVar dbSNP |
15 | g.48474567A>T | CA014710 | FBN1 | c.4048T>A (p.Cys1350Ser) n.2722T>A c.720T>A (p.Ala240=) | ClinVar dbSNP |
15 | g.48474568G>A | CA490015240 | FBN1 | c.4047C>T (p.Ser1349=) n.2721C>T c.719C>T (p.Ala240Val) | gnomAD v3 gnomAD v4 |
15 | g.48474568G>C | CA392320482 | FBN1 | c.4047C>G (p.Ser1349Arg) n.2721C>G c.719C>G (p.Ala240Gly) | |
15 | g.48474568G>T | CA392320483 | FBN1 | c.4047C>A (p.Ser1349Arg) n.2721C>A c.719C>A (p.Ala240Asp) | |
15 | g.48474569C>A | CA392320484 | FBN1 | c.4046G>T (p.Ser1349Ile) n.2720G>T c.718G>T (p.Ala240Ser) | |
15 | g.48474569C= | CA2175496092 | FBN1 | c.4046G= (p.Ser1349=) n.2720G= c.718G= (p.Ala240=) | |
15 | g.48474569C>G | CA392320485 | FBN1 | c.4046G>C (p.Ser1349Thr) n.2720G>C c.718G>C (p.Ala240Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.48474569C>T | CA392320486 | FBN1 | c.4046G>A (p.Ser1349Asn) n.2720G>A c.718G>A (p.Ala240Thr) | dbSNP |
15 | g.48474569dup | CA2695220639 | FBN1 | c.4046dup (p.Ser1349ArgfsTer12) n.2720dup c.718dup (p.Ala240GlyfsTer?) | |
15 | g.48474570T>A | CA392320487 | FBN1 | c.4045A>T (p.Ser1349Cys) n.2719A>T c.717A>T (p.Val239=) | |
15 | g.48474570T>C | CA392320488 | FBN1 | c.4045A>G (p.Ser1349Gly) n.2719A>G c.717A>G (p.Val239=) | |
15 | g.48474570T>G | CA392320489 | FBN1 | c.4045A>C (p.Ser1349Arg) n.2719A>C c.717A>C (p.Val239=) | |
15 | g.48474571A= | CA2175496103 | FBN1 | c.4044T= (p.Cys1348=) n.2718T= c.716T= (p.Val239=) | |
15 | g.48474571A>C | CA392320490 | FBN1 | c.4044T>G (p.Cys1348Trp) n.2718T>G c.716T>G (p.Val239Gly) | ClinVar dbSNP |
15 | g.48474571A>G | CA490015243 | FBN1 | c.4044T>C (p.Cys1348=) n.2718T>C c.716T>C (p.Val239Ala) | |
15 | g.48474571A>T | CA392320491 | FBN1 | c.4044T>A (p.Cys1348Ter) n.2718T>A c.716T>A (p.Val239Glu) | |
15 | g.48474572C>A | CA392320492 | FBN1 | c.4043G>T (p.Cys1348Phe) n.2717G>T c.715G>T (p.Val239Leu) | ClinVar dbSNP |
15 | g.48474572C= | CA2175496114 | FBN1 | c.4043G= (p.Cys1348=) n.2717G= c.715G= (p.Val239=) | |
15 | g.48474572C>G | CA392320493 | FBN1 | c.4043G>C (p.Cys1348Ser) n.2717G>C c.715G>C (p.Val239Leu) | |
15 | g.48474572C>T | CA392320494 | FBN1 | c.4043G>A (p.Cys1348Tyr) n.2717G>A c.715G>A (p.Val239Ile) | ClinVar dbSNP |
15 | g.48474573A>C | CA392320497 | FBN1 | c.4042T>G (p.Cys1348Gly) n.2716T>G c.714T>G (p.Asn238Lys) | |
15 | g.48474573A>G | CA392320496 | FBN1 | c.4042T>C (p.Cys1348Arg) n.2716T>C c.714T>C (p.Asn238=) | ClinVar dbSNP |
15 | g.48474573A>T | CA392320495 | FBN1 | c.4042T>A (p.Cys1348Ser) n.2716T>A c.714T>A (p.Asn238Lys) | |
15 | g.48474574T>A | CA392320498 | FBN1 | c.4041A>T (p.Lys1347Asn) n.2715A>T c.713A>T (p.Asn238Ile) | |
15 | g.48474574T>C | CA490015245 | FBN1 | c.4041A>G (p.Lys1347=) n.2715A>G c.713A>G (p.Asn238Ser) | |
15 | g.48474574T>G | CA392320499 | FBN1 | c.4041A>C (p.Lys1347Asn) n.2715A>C c.713A>C (p.Asn238Thr) | |
15 | g.48474575T>A | CA392320500 | FBN1 | c.4040A>T (p.Lys1347Ile) n.2714A>T c.712A>T (p.Asn238Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.48474575T>C | CA392320501 | FBN1 | c.4040A>G (p.Lys1347Arg) n.2714A>G c.712A>G (p.Asn238Asp) | |
15 | g.48474575T>G | CA392320502 | FBN1 | c.4040A>C (p.Lys1347Thr) n.2714A>C c.712A>C (p.Asn238His) | |
15 | g.48474575T= | CA2175496124 | FBN1 | c.4040A= (p.Lys1347=) n.2714A= c.712A= (p.Asn238=) | |
15 | g.48474576T>A | CA392320503 | FBN1 | c.4039A>T (p.Lys1347Ter) n.2713A>T c.711A>T (p.Ser237=) | |
15 | g.48474576T>C | CA392320504 | FBN1 | c.4039A>G (p.Lys1347Glu) n.2713A>G c.711A>G (p.Ser237=) | |
15 | g.48474576T>G | CA392320505 | FBN1 | c.4039A>C (p.Lys1347Gln) n.2713A>C c.711A>C (p.Ser237=) | |
15 | g.48474577G>A | CA490015248 | FBN1 | c.4038C>T (p.Phe1346=) n.2712C>T c.710C>T (p.Ser237Leu) | dbSNP |
15 | g.48474577G>C | CA392320506 | FBN1 | c.4038C>G (p.Phe1346Leu) n.2712C>G c.710C>G (p.Ser237Ter) | |
15 | g.48474577G= | CA2175496125 | FBN1 | c.4038C= (p.Phe1346=) n.2712C= c.710C= (p.Ser237=) | |
15 | g.48474577G>T | CA392320507 | FBN1 | c.4038C>A (p.Phe1346Leu) n.2712C>A c.710C>A (p.Ser237Ter) | COSMIC |
15 | g.48474578A= | CA2175496127 | FBN1 | c.4037T= (p.Phe1346=) n.2711T= c.709T= (p.Ser237=) | |
15 | g.48474578A>C | CA392320508 | FBN1 | c.4037T>G (p.Phe1346Cys) n.2711T>G c.709T>G (p.Ser237Ala) | |
15 | g.48474578A>G | CA392320509 | FBN1 | c.4037T>C (p.Phe1346Ser) n.2711T>C c.709T>C (p.Ser237Pro) | |
15 | g.48474578A>T | CA392320510 | FBN1 | c.4037T>A (p.Phe1346Tyr) n.2711T>A c.709T>A (p.Ser237Thr) | |
15 | g.48474579A= | CA2175496135 | FBN1 | c.4036T= (p.Phe1346=) n.2710T= c.708T= (p.Ala236=) | |
15 | g.48474579A>C | CA392320513 | FBN1 | c.4036T>G (p.Phe1346Val) n.2710T>G c.708T>G (p.Ala236=) | ClinVar dbSNP |
15 | g.48474579A>G | CA392320512 | FBN1 | c.4036T>C (p.Phe1346Leu) n.2710T>C c.708T>C (p.Ala236=) | |
15 | g.48474579A>T | CA392320511 | FBN1 | c.4036T>A (p.Phe1346Ile) n.2710T>A c.708T>A (p.Ala236=) | |
15 | g.48474593_48474594insGTACCAATACAGCAGGAAGCTTCAAATGTAGCTTCCTGCTGTAT | CA915946000 | FBN1 | c.4036_4037insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT (p.Phe1346TyrfsTer3) n.2710_2711insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT c.708_709insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT (p.Ser237ThrfsTer18) | ClinVar dbSNP |