| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178607930G>T | CA16604011 | TTN,TTN-AS1 | c.45153C>A (p.Cys15051Ter) c.26238C>A (p.Cys8746Ter) c.26037C>A (p.Cys8679Ter) c.25662C>A (p.Cys8554Ter) c.52857C>A (p.Cys17619Ter) c.47934C>A (p.Cys15978Ter) n.683-237G>T c.51954C>A (p.Cys17318Ter) c.25848C>A (p.Cys8616Ter) c.25707C>A (p.Cys8569Ter) c.51750C>A (p.Cys17250Ter) c.47148C>A (p.Cys15716Ter) c.47145C>A (p.Cys15715Ter) c.44187C>A (p.Cys14729Ter) c.25803C>A (p.Cys8601Ter) c.47298C>A (p.Cys15766Ter) c.47295C>A (p.Cys15765Ter) c.46728C>A (p.Cys15576Ter) c.44070C>A (p.Cys14690Ter) c.43989C>A (p.Cys14663Ter) c.25752C>A (p.Cys8584Ter) c.15606C>A (p.Cys5202Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178607930G>A | CA430271226 | TTN,TTN-AS1 | c.45153C>T (p.Cys15051=) c.26238C>T (p.Cys8746=) c.26037C>T (p.Cys8679=) c.25662C>T (p.Cys8554=) c.52857C>T (p.Cys17619=) c.47934C>T (p.Cys15978=) n.683-237G>A c.51954C>T (p.Cys17318=) c.25848C>T (p.Cys8616=) c.25707C>T (p.Cys8569=) c.51750C>T (p.Cys17250=) c.47148C>T (p.Cys15716=) c.47145C>T (p.Cys15715=) c.44187C>T (p.Cys14729=) c.25803C>T (p.Cys8601=) c.47298C>T (p.Cys15766=) c.47295C>T (p.Cys15765=) c.46728C>T (p.Cys15576=) c.44070C>T (p.Cys14690=) c.43989C>T (p.Cys14663=) c.25752C>T (p.Cys8584=) c.15606C>T (p.Cys5202=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |