| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201361286T>A | CA005099 | TNNT2 | c.788A>T (p.Lys263Ile) c.773A>T (p.Lys258Ile) c.761A>T (p.Lys254Ile) c.764A>T (p.Lys255Ile) c.794A>T (p.Lys265Ile) c.752A>T (p.Lys251Ile) n.1264A>T c.803A>T (p.Lys268Ile) c.*162A>T (n.*162A>T) c.*703A>T (n.*703A>T) c.*48A>T (n.*48A>T) c.674A>T (p.Lys225Ile) c.782A>T (p.Lys261Ile) c.755A>T (p.Lys252Ile) c.587A>T (p.Lys196Ile) n.1096A>T n.220A>T n.72A>T n.2012A>T n.699A>T c.770A>T (p.Lys257Ile) c.800A>T (p.Lys267Ile) c.797A>T (p.Lys266Ile) c.758A>T (p.Lys253Ile) c.596A>T (p.Lys199Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201361286T= | CA1144229067 | TNNT2 | c.788A= (p.Lys263=) c.773A= (p.Lys258=) c.761A= (p.Lys254=) c.764A= (p.Lys255=) c.794A= (p.Lys265=) c.752A= (p.Lys251=) n.1264A= c.803A= (p.Lys268=) c.*162A= (n.*162A=) c.*703A= (n.*703A=) c.*48A= (n.*48A=) c.674A= (p.Lys225=) c.782A= (p.Lys261=) c.755A= (p.Lys252=) c.587A= (p.Lys196=) n.1096A= n.220A= n.72A= n.2012A= n.699A= c.770A= (p.Lys257=) c.800A= (p.Lys267=) c.797A= (p.Lys266=) c.758A= (p.Lys253=) c.596A= (p.Lys199=) | dbSNP |