Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48463977A= | CA2175516197 | FBN1 | c.4987T= (p.Cys1663=) n.3661T= c.*750T= (n.*750T=) c.294T= | |
15 | g.48463977A>C | CA392350218 | FBN1 | c.4987T>G (p.Cys1663Gly) n.3661T>G c.*750T>G (n.*750T>G) c.294T>G | |
15 | g.48463977A>G | CA015538 | FBN1 | c.4987T>C (p.Cys1663Arg) n.3661T>C c.*750T>C (n.*750T>C) c.294T>C | ClinVar dbSNP |
15 | g.48463977A>T | CA392350224 | FBN1 | c.4987T>A (p.Cys1663Ser) n.3661T>A c.*750T>A (n.*750T>A) c.294T>A | |
15 | g.48463978T>A | CA490026087 | FBN1 | c.4986A>T (p.Thr1662=) n.3660A>T c.*749A>T (n.*749A>T) c.293A>T | gnomAD v4 |
15 | g.48463978T>C | CA054108 | FBN1 | c.4986A>G (p.Thr1662=) n.3660A>G c.*749A>G (n.*749A>G) c.293A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48463978T>G | CA490026089 | FBN1 | c.4986A>C (p.Thr1662=) n.3660A>C c.*749A>C (n.*749A>C) c.293A>C | |
15 | g.48463978T= | CA2175516198 | FBN1 | c.4986A= (p.Thr1662=) n.3660A= c.*749A= (n.*749A=) c.293A= | |
15 | g.48463979G>A | CA392350234 | FBN1 | c.4985C>T (p.Thr1662Ile) n.3659C>T c.*748C>T (n.*748C>T) c.292C>T | gnomAD v4 |
15 | g.48463979G>C | CA392350236 | FBN1 | c.4985C>G (p.Thr1662Arg) n.3659C>G c.*748C>G (n.*748C>G) c.292C>G | |
15 | g.48463979G= | CA2175516200 | FBN1 | c.4985C= (p.Thr1662=) n.3659C= c.*748C= (n.*748C=) c.292C= | |
15 | g.48463979G>T | CA10587822 | FBN1 | c.4985C>A (p.Thr1662Lys) n.3659C>A c.*748C>A (n.*748C>A) c.292C>A | ClinVar dbSNP gnomAD v4 |
15 | g.48463980T>A | CA392350240 | FBN1 | c.4984A>T (p.Thr1662Ser) n.3658A>T c.*747A>T (n.*747A>T) c.291A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.48463980T>C | CA392350241 | FBN1 | c.4984A>G (p.Thr1662Ala) n.3658A>G c.*747A>G (n.*747A>G) c.291A>G | |
15 | g.48463980T>G | CA392350243 | FBN1 | c.4984A>C (p.Thr1662Pro) n.3658A>C c.*747A>C (n.*747A>C) c.291A>C | |
15 | g.48463980T= | CA2175516202 | FBN1 | c.4984A= (p.Thr1662=) n.3658A= c.*747A= (n.*747A=) c.291A= | |
15 | g.48463981C>A | CA490026097 | FBN1 | c.4983G>T (p.Gly1661=) n.3657G>T c.*746G>T (n.*746G>T) c.290G>T | |
15 | g.48463981C>G | CA490026099 | FBN1 | c.4983G>C (p.Gly1661=) n.3657G>C c.*746G>C (n.*746G>C) c.290G>C | |
15 | g.48463981C>T | CA490026101 | FBN1 | c.4983G>A (p.Gly1661=) n.3657G>A c.*746G>A (n.*746G>A) c.290G>A | |
15 | g.48463982C>A | CA015529 | FBN1 | c.4982G>T (p.Gly1661Val) n.3656G>T c.*745G>T (n.*745G>T) c.289G>T | dbSNP |
15 | g.48463982C= | CA2175516203 | FBN1 | c.4982G= (p.Gly1661=) n.3656G= c.*745G= (n.*745G=) c.289G= | |
15 | g.48463982C>G | CA392350250 | FBN1 | c.4982G>C (p.Gly1661Ala) n.3656G>C c.*745G>C (n.*745G>C) c.289G>C | |
15 | g.48463982C>T | CA392350255 | FBN1 | c.4982G>A (p.Gly1661Glu) n.3656G>A c.*745G>A (n.*745G>A) c.289G>A | |
15 | g.48463983C>A | CA392350263 | FBN1 | c.4981G>T (p.Gly1661Trp) n.3655G>T c.*744G>T (n.*744G>T) c.288G>T | |
15 | g.48463983C= | CA2175516204 | FBN1 | c.4981G= (p.Gly1661=) n.3655G= c.*744G= (n.*744G=) c.288G= | |
15 | g.48463983C>G | CA392350266 | FBN1 | c.4981G>C (p.Gly1661Arg) n.3655G>C c.*744G>C (n.*744G>C) c.288G>C | ClinVar dbSNP |
15 | g.48463983C>T | CA392350271 | FBN1 | c.4981G>A (p.Gly1661Arg) n.3655G>A c.*744G>A (n.*744G>A) c.288G>A | ClinVar dbSNP |
15 | g.48463984T>A | CA490026112 | FBN1 | c.4980A>T (p.Pro1660=) n.3654A>T c.*743A>T (n.*743A>T) c.287A>T | |
15 | g.48463984T>C | CA054105 | FBN1 | c.4980A>G (p.Pro1660=) n.3654A>G c.*743A>G (n.*743A>G) c.287A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48463984T>G | CA490026110 | FBN1 | c.4980A>C (p.Pro1660=) n.3654A>C c.*743A>C (n.*743A>C) c.287A>C | |
15 | g.48463984T= | CA2175516206 | FBN1 | c.4980A= (p.Pro1660=) n.3654A= c.*743A= (n.*743A=) c.287A= | |
15 | g.48463985G>A | CA392350276 | FBN1 | c.4979C>T (p.Pro1660Leu) n.3653C>T c.*742C>T (n.*742C>T) c.286C>T | gnomAD v4 |
15 | g.48463985G>C | CA392350275 | FBN1 | c.4979C>G (p.Pro1660Arg) n.3653C>G c.*742C>G (n.*742C>G) c.286C>G | |
15 | g.48463985G>T | CA392350274 | FBN1 | c.4979C>A (p.Pro1660Gln) n.3653C>A c.*742C>A (n.*742C>A) c.286C>A | |
15 | g.48463986G>A | CA392350279 | FBN1 | c.4978C>T (p.Pro1660Ser) n.3652C>T c.*741C>T (n.*741C>T) c.285C>T | |
15 | g.48463986G>C | CA392350281 | FBN1 | c.4978C>G (p.Pro1660Ala) n.3652C>G c.*741C>G (n.*741C>G) c.285C>G | gnomAD v4 |
15 | g.48463986G>T | CA392350280 | FBN1 | c.4978C>A (p.Pro1660Thr) n.3652C>A c.*741C>A (n.*741C>A) c.285C>A | |
15 | g.48463987del | CA2695220540 | FBN1 | c.4977del (p.Pro1660GlnfsTer22) n.3651del c.*740del (n.*740del) c.284del | |
15 | g.48463987A>C | CA490026119 | FBN1 | c.4977T>G (p.Gly1659=) n.3651T>G c.*740T>G (n.*740T>G) c.284T>G | |
15 | g.48463987A>G | CA490026121 | FBN1 | c.4977T>C (p.Gly1659=) n.3651T>C c.*740T>C (n.*740T>C) c.284T>C | |
15 | g.48463987A>T | CA490026122 | FBN1 | c.4977T>A (p.Gly1659=) n.3651T>A c.*740T>A (n.*740T>A) c.284T>A | |
15 | g.48463988C>A | CA392350286 | FBN1 | c.4976G>T (p.Gly1659Val) n.3650G>T c.*739G>T (n.*739G>T) c.283G>T | |
15 | g.48463988C>G | CA392350291 | FBN1 | c.4976G>C (p.Gly1659Ala) n.3650G>C c.*739G>C (n.*739G>C) c.283G>C | |
15 | g.48463988C>T | CA392350294 | FBN1 | c.4976G>A (p.Gly1659Asp) n.3650G>A c.*739G>A (n.*739G>A) c.283G>A | |
15 | g.48463989del | CA2695220541 | FBN1 | c.4976del (p.Gly1659ValfsTer23) n.3650del c.*739del (n.*739del) c.283del | |
15 | g.48463988_48463990delinsCCA | CA2175516208 | FBN1 | c.4974_4976delinsTGG (p.Cys1658=) n.3648_3650delinsTGG c.*737_*739delinsTGG (n.*737_*739delinsTGG) c.281_283delinsTGG | |
15 | g.48463989C>A | CA392350301 | FBN1 | c.4975G>T (p.Gly1659Cys) n.3649G>T c.*738G>T (n.*738G>T) c.282G>T | |
15 | g.48463989C>G | CA392350306 | FBN1 | c.4975G>C (p.Gly1659Arg) n.3649G>C c.*738G>C (n.*738G>C) c.282G>C | |
15 | g.48463989C>T | CA392350312 | FBN1 | c.4975G>A (p.Gly1659Ser) n.3649G>A c.*738G>A (n.*738G>A) c.282G>A | |
15 | g.48463991_48463992del | CA658824310 | FBN1 | c.4974_4975del (p.Cys1658TrpfsTer28) n.3648_3649del c.*737_*738del (n.*737_*738del) c.281_282del | ClinVar dbSNP |