| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178559797G>A | CA16610263 | TTN,TTN-AS1 | c.78631C>T (p.Arg26211Ter) c.59716C>T (p.Arg19906Ter) c.59515C>T (p.Arg19839Ter) c.59140C>T (p.Arg19714Ter) c.86335C>T (p.Arg28779Ter) c.81412C>T (p.Arg27138Ter) n.447-11503G>A n.2043+17436G>A c.85432C>T (p.Arg28478Ter) c.59326C>T (p.Arg19776Ter) c.59185C>T (p.Arg19729Ter) c.85228C>T (p.Arg28410Ter) c.80626C>T (p.Arg26876Ter) c.80623C>T (p.Arg26875Ter) c.77665C>T (p.Arg25889Ter) c.59281C>T (p.Arg19761Ter) c.80776C>T (p.Arg26926Ter) c.80773C>T (p.Arg26925Ter) c.80206C>T (p.Arg26736Ter) c.77548C>T (p.Arg25850Ter) c.77467C>T (p.Arg25823Ter) c.59230C>T (p.Arg19744Ter) c.49084C>T (p.Arg16362Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178559797G= | CA1310526789 | TTN,TTN-AS1 | c.78631C= (p.Arg26211=) c.59716C= (p.Arg19906=) c.59515C= (p.Arg19839=) c.59140C= (p.Arg19714=) c.86335C= (p.Arg28779=) c.81412C= (p.Arg27138=) n.447-11503G= n.2043+17436G= c.85432C= (p.Arg28478=) c.59326C= (p.Arg19776=) c.59185C= (p.Arg19729=) c.85228C= (p.Arg28410=) c.80626C= (p.Arg26876=) c.80623C= (p.Arg26875=) c.77665C= (p.Arg25889=) c.59281C= (p.Arg19761=) c.80776C= (p.Arg26926=) c.80773C= (p.Arg26925=) c.80206C= (p.Arg26736=) c.77548C= (p.Arg25850=) c.77467C= (p.Arg25823=) c.59230C= (p.Arg19744=) c.49084C= (p.Arg16362=) | dbSNP |
| 2 | g.178559797G>T | CA430248186 | TTN,TTN-AS1 | c.78631C>A (p.Arg26211=) c.59716C>A (p.Arg19906=) c.59515C>A (p.Arg19839=) c.59140C>A (p.Arg19714=) c.86335C>A (p.Arg28779=) c.81412C>A (p.Arg27138=) n.447-11503G>T n.2043+17436G>T c.85432C>A (p.Arg28478=) c.59326C>A (p.Arg19776=) c.59185C>A (p.Arg19729=) c.85228C>A (p.Arg28410=) c.80626C>A (p.Arg26876=) c.80623C>A (p.Arg26875=) c.77665C>A (p.Arg25889=) c.59281C>A (p.Arg19761=) c.80776C>A (p.Arg26926=) c.80773C>A (p.Arg26925=) c.80206C>A (p.Arg26736=) c.77548C>A (p.Arg25850=) c.77467C>A (p.Arg25823=) c.59230C>A (p.Arg19744=) c.49084C>A (p.Arg16362=) | dbSNP gnomAD v4 |