| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178571565C>T | CA16043381 | TTN,TTN-AS1 | c.66863G>A (p.Trp22288Ter) c.47948G>A (p.Trp15983Ter) c.47747G>A (p.Trp15916Ter) c.47372G>A (p.Trp15791Ter) c.74567G>A (p.Trp24856Ter) c.69644G>A (p.Trp23215Ter) n.596+116C>T n.2044-11007C>T c.73664G>A (p.Trp24555Ter) c.47558G>A (p.Trp15853Ter) c.47417G>A (p.Trp15806Ter) c.73460G>A (p.Trp24487Ter) c.68858G>A (p.Trp22953Ter) c.68855G>A (p.Trp22952Ter) c.65897G>A (p.Trp21966Ter) c.47513G>A (p.Trp15838Ter) c.69008G>A (p.Trp23003Ter) c.69005G>A (p.Trp23002Ter) c.68438G>A (p.Trp22813Ter) c.65780G>A (p.Trp21927Ter) c.65699G>A (p.Trp21900Ter) c.47462G>A (p.Trp15821Ter) c.37316G>A (p.Trp12439Ter) | ClinVar dbSNP |
| 2 | g.178571565C= | CA1310531580 | TTN,TTN-AS1 | c.66863G= (p.Trp22288=) c.47948G= (p.Trp15983=) c.47747G= (p.Trp15916=) c.47372G= (p.Trp15791=) c.74567G= (p.Trp24856=) c.69644G= (p.Trp23215=) n.596+116C= n.2044-11007C= c.73664G= (p.Trp24555=) c.47558G= (p.Trp15853=) c.47417G= (p.Trp15806=) c.73460G= (p.Trp24487=) c.68858G= (p.Trp22953=) c.68855G= (p.Trp22952=) c.65897G= (p.Trp21966=) c.47513G= (p.Trp15838=) c.69008G= (p.Trp23003=) c.69005G= (p.Trp23002=) c.68438G= (p.Trp22813=) c.65780G= (p.Trp21927=) c.65699G= (p.Trp21900=) c.47462G= (p.Trp15821=) c.37316G= (p.Trp12439=) | dbSNP |