Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48497367_48497386dup | CA2499223006 | FBN1 | c.2173_2192dup (p.Asp732MetfsTer5) n.847_866dup c.637-22736_637-22717dup (n.637-22736_637-22717dup) | ClinVar dbSNP |
15 | g.48497371C>A | CA392335837 | FBN1 | c.2188G>T (p.Asp730Tyr) n.862G>T c.637-22721G>T (n.637-22721G>T) | |
15 | g.48497371C= | CA2175521423 | FBN1 | c.2188G= (p.Asp730=) n.862G= c.637-22721G= (n.637-22721G=) | |
15 | g.48497371C>G | CA392335839 | FBN1 | c.2188G>C (p.Asp730His) n.862G>C c.637-22721G>C (n.637-22721G>C) | |
15 | g.48497371C>T | CA012868 | FBN1 | c.2188G>A (p.Asp730Asn) n.862G>A c.637-22721G>A (n.637-22721G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48497372T>A | CA490023646 | FBN1 | c.2187A>T (p.Leu729=) n.861A>T c.637-22722A>T (n.637-22722A>T) | |
15 | g.48497372T>C | CA047179 | FBN1 | c.2187A>G (p.Leu729=) n.861A>G c.637-22722A>G (n.637-22722A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48497372T>G | CA047171 | FBN1 | c.2187A>C (p.Leu729=) n.861A>C c.637-22722A>C (n.637-22722A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48497372T= | CA2175521425 | FBN1 | c.2187A= (p.Leu729=) n.861A= c.637-22722A= (n.637-22722A=) | |
15 | g.48497372_48497373delinsTA | CA2175521426 | FBN1 | c.2186_2187delinsTA (p.Leu729=) n.860_861delinsTA c.637-22723_637-22722delinsTA (n.637-22723_637-22722delinsTA) | |
15 | g.48497373del | CA012860 | FBN1 | c.2186del (p.Leu729GlnfsTer?) n.860del c.637-22723del (n.637-22723del) | ClinVar dbSNP |
15 | g.48497373A= | CA2581198466 | FBN1 | c.2186T= (p.Leu729=) n.860T= c.637-22723T= (n.637-22723T=) | |
15 | g.48497373A>C | CA392335845 | FBN1 | c.2186T>G (p.Leu729Arg) n.860T>G c.637-22723T>G (n.637-22723T>G) | |
15 | g.48497373A>G | CA392335847 | FBN1 | c.2186T>C (p.Leu729Pro) n.860T>C c.637-22723T>C (n.637-22723T>C) | |
15 | g.48497373A>T | CA392335849 | FBN1 | c.2186T>A (p.Leu729Gln) n.860T>A c.637-22723T>A (n.637-22723T>A) | |
15 | g.48497374G>A | CA490023647 | FBN1 | c.2185C>T (p.Leu729=) n.859C>T c.637-22724C>T (n.637-22724C>T) | |
15 | g.48497374G>C | CA392335853 | FBN1 | c.2185C>G (p.Leu729Val) n.859C>G c.637-22724C>G (n.637-22724C>G) | |
15 | g.48497374G>T | CA392335855 | FBN1 | c.2185C>A (p.Leu729Ile) n.859C>A c.637-22724C>A (n.637-22724C>A) | |
15 | g.48497375T>A | CA490023648 | FBN1 | c.2184A>T (p.Ala728=) n.858A>T c.637-22725A>T (n.637-22725A>T) | |
15 | g.48497375T>C | CA490023649 | FBN1 | c.2184A>G (p.Ala728=) n.858A>G c.637-22725A>G (n.637-22725A>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48497375T>G | CA490023650 | FBN1 | c.2184A>C (p.Ala728=) n.858A>C c.637-22725A>C (n.637-22725A>C) | |
15 | g.48497375T= | CA2175521428 | FBN1 | c.2184A= (p.Ala728=) n.858A= c.637-22725A= (n.637-22725A=) | |
15 | g.48497376G>A | CA392335858 | FBN1 | c.2183C>T (p.Ala728Val) n.857C>T c.637-22726C>T (n.637-22726C>T) | |
15 | g.48497376G>C | CA392335860 | FBN1 | c.2183C>G (p.Ala728Gly) n.857C>G c.637-22726C>G (n.637-22726C>G) | |
15 | g.48497376G>T | CA392335862 | FBN1 | c.2183C>A (p.Ala728Glu) n.857C>A c.637-22726C>A (n.637-22726C>A) | |
15 | g.48497377C>A | CA269539971 | FBN1 | c.2182G>T (p.Ala728Ser) n.856G>T c.637-22727G>T (n.637-22727G>T) | dbSNP gnomAD v4 |
15 | g.48497377C= | CA2175521429 | FBN1 | c.2182G= (p.Ala728=) n.856G= c.637-22727G= (n.637-22727G=) | |
15 | g.48497377C>G | CA392335866 | FBN1 | c.2182G>C (p.Ala728Pro) n.856G>C c.637-22727G>C (n.637-22727G>C) | |
15 | g.48497377C>T | CA392335868 | FBN1 | c.2182G>A (p.Ala728Thr) n.856G>A c.637-22727G>A (n.637-22727G>A) | |
15 | g.48497378A= | CA2175521430 | FBN1 | c.2181T= (p.Cys727=) n.855T= c.637-22728T= (n.637-22728T=) | |
15 | g.48497378A>C | CA392335872 | FBN1 | c.2181T>G (p.Cys727Trp) n.855T>G c.637-22728T>G (n.637-22728T>G) | |
15 | g.48497378A>G | CA490023651 | FBN1 | c.2181T>C (p.Cys727=) n.855T>C c.637-22728T>C (n.637-22728T>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48497378A>T | CA392335874 | FBN1 | c.2181T>A (p.Cys727Ter) n.855T>A c.637-22728T>A (n.637-22728T>A) | |
15 | g.48497379C>A | CA392335878 | FBN1 | c.2180G>T (p.Cys727Phe) n.854G>T c.637-22729G>T (n.637-22729G>T) | |
15 | g.48497379C= | CA2175521432 | FBN1 | c.2180G= (p.Cys727=) n.854G= c.637-22729G= (n.637-22729G=) | |
15 | g.48497379C>G | CA392335880 | FBN1 | c.2180G>C (p.Cys727Ser) n.854G>C c.637-22729G>C (n.637-22729G>C) | |
15 | g.48497379C>T | CA012850 | FBN1 | c.2180G>A (p.Cys727Tyr) n.854G>A c.637-22729G>A (n.637-22729G>A) | ClinVar dbSNP |
15 | g.48497379dup | CA304344 | FBN1 | c.2180dup (p.Cys727TrpfsTer6) n.854dup c.637-22729dup (n.637-22729dup) | ClinVar dbSNP |
15 | g.48497380A= | CA2175521434 | FBN1 | c.2179T= (p.Cys727=) n.853T= c.637-22730T= (n.637-22730T=) | |
15 | g.48497380A>C | CA392335884 | FBN1 | c.2179T>G (p.Cys727Gly) n.853T>G c.637-22730T>G (n.637-22730T>G) | ClinVar dbSNP |
15 | g.48497380A>G | CA16619970 | FBN1 | c.2179T>C (p.Cys727Arg) n.853T>C c.637-22730T>C (n.637-22730T>C) | ClinVar dbSNP |
15 | g.48497380A>T | CA392335887 | FBN1 | c.2179T>A (p.Cys727Ser) n.853T>A c.637-22730T>A (n.637-22730T>A) | ClinVar dbSNP |
15 | g.48497381T>A | CA392335889 | FBN1 | c.2178A>T (p.Glu726Asp) n.852A>T c.637-22731A>T (n.637-22731A>T) | |
15 | g.48497381T>C | CA490023652 | FBN1 | c.2178A>G (p.Glu726=) n.852A>G c.637-22731A>G (n.637-22731A>G) | |
15 | g.48497381T>G | CA392335891 | FBN1 | c.2178A>C (p.Glu726Asp) n.852A>C c.637-22731A>C (n.637-22731A>C) | |
15 | g.48497382T>A | CA392335895 | FBN1 | c.2177A>T (p.Glu726Val) n.851A>T c.637-22732A>T (n.637-22732A>T) | |
15 | g.48497382T>C | CA392335897 | FBN1 | c.2177A>G (p.Glu726Gly) n.851A>G c.637-22732A>G (n.637-22732A>G) | ClinVar |
15 | g.48497382T>G | CA392335899 | FBN1 | c.2177A>C (p.Glu726Ala) n.851A>C c.637-22732A>C (n.637-22732A>C) | |
15 | g.48497382_48497383delinsTC | CA2175521436 | FBN1 | c.2176_2177delinsGA (p.Glu726=) n.850_851delinsGA c.637-22733_637-22732delinsGA (n.637-22733_637-22732delinsGA) | |
15 | g.48497383del | CA658824470 | FBN1 | c.2176del (p.Glu726AsnfsTer4) n.850del c.637-22733del (n.637-22733del) | ClinVar dbSNP |