| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178585291G>T | CA1991900 | TTN,TTN-AS1 | c.56749C>A (p.Arg18917=) c.37834C>A (p.Arg12612=) c.37633C>A (p.Arg12545=) c.37258C>A (p.Arg12420=) c.64453C>A (p.Arg21485=) c.59530C>A (p.Arg19844=) n.597-12305G>T n.3188+298G>T c.63550C>A (p.Arg21184=) c.37444C>A (p.Arg12482=) c.37303C>A (p.Arg12435=) c.63346C>A (p.Arg21116=) c.58744C>A (p.Arg19582=) c.58741C>A (p.Arg19581=) c.55783C>A (p.Arg18595=) c.37399C>A (p.Arg12467=) c.58894C>A (p.Arg19632=) c.58891C>A (p.Arg19631=) c.58324C>A (p.Arg19442=) c.55666C>A (p.Arg18556=) c.55585C>A (p.Arg18529=) c.37348C>A (p.Arg12450=) c.27202C>A (p.Arg9068=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178585291G>A | CA090110 | TTN,TTN-AS1 | c.56749C>T (p.Arg18917Ter) c.37834C>T (p.Arg12612Ter) c.37633C>T (p.Arg12545Ter) c.37258C>T (p.Arg12420Ter) c.64453C>T (p.Arg21485Ter) c.59530C>T (p.Arg19844Ter) n.597-12305G>A n.3188+298G>A c.63550C>T (p.Arg21184Ter) c.37444C>T (p.Arg12482Ter) c.37303C>T (p.Arg12435Ter) c.63346C>T (p.Arg21116Ter) c.58744C>T (p.Arg19582Ter) c.58741C>T (p.Arg19581Ter) c.55783C>T (p.Arg18595Ter) c.37399C>T (p.Arg12467Ter) c.58894C>T (p.Arg19632Ter) c.58891C>T (p.Arg19631Ter) c.58324C>T (p.Arg19442Ter) c.55666C>T (p.Arg18556Ter) c.55585C>T (p.Arg18529Ter) c.37348C>T (p.Arg12450Ter) c.27202C>T (p.Arg9068Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |