| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178572689G>T | CA16604000 | TTN,TTN-AS1 | c.65739C>A (p.Tyr21913Ter) c.46824C>A (p.Tyr15608Ter) c.46623C>A (p.Tyr15541Ter) c.46248C>A (p.Tyr15416Ter) c.73443C>A (p.Tyr24481Ter) c.68520C>A (p.Tyr22840Ter) n.596+1240G>T n.2044-9883G>T c.72540C>A (p.Tyr24180Ter) c.46434C>A (p.Tyr15478Ter) c.46293C>A (p.Tyr15431Ter) c.72336C>A (p.Tyr24112Ter) c.67734C>A (p.Tyr22578Ter) c.67731C>A (p.Tyr22577Ter) c.64773C>A (p.Tyr21591Ter) c.46389C>A (p.Tyr15463Ter) c.67884C>A (p.Tyr22628Ter) c.67881C>A (p.Tyr22627Ter) c.67314C>A (p.Tyr22438Ter) c.64656C>A (p.Tyr21552Ter) c.64575C>A (p.Tyr21525Ter) c.46338C>A (p.Tyr15446Ter) c.36192C>A (p.Tyr12064Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178572689G>A | CA430256275 | TTN,TTN-AS1 | c.65739C>T (p.Tyr21913=) c.46824C>T (p.Tyr15608=) c.46623C>T (p.Tyr15541=) c.46248C>T (p.Tyr15416=) c.73443C>T (p.Tyr24481=) c.68520C>T (p.Tyr22840=) n.596+1240G>A n.2044-9883G>A c.72540C>T (p.Tyr24180=) c.46434C>T (p.Tyr15478=) c.46293C>T (p.Tyr15431=) c.72336C>T (p.Tyr24112=) c.67734C>T (p.Tyr22578=) c.67731C>T (p.Tyr22577=) c.64773C>T (p.Tyr21591=) c.46389C>T (p.Tyr15463=) c.67884C>T (p.Tyr22628=) c.67881C>T (p.Tyr22627=) c.67314C>T (p.Tyr22438=) c.64656C>T (p.Tyr21552=) c.64575C>T (p.Tyr21525=) c.46338C>T (p.Tyr15446=) c.36192C>T (p.Tyr12064=) | dbSNP gnomAD v4 |
| 2 | g.178572689G= | CA1310532065 | TTN,TTN-AS1 | c.65739C= (p.Tyr21913=) c.46824C= (p.Tyr15608=) c.46623C= (p.Tyr15541=) c.46248C= (p.Tyr15416=) c.73443C= (p.Tyr24481=) c.68520C= (p.Tyr22840=) n.596+1240G= n.2044-9883G= c.72540C= (p.Tyr24180=) c.46434C= (p.Tyr15478=) c.46293C= (p.Tyr15431=) c.72336C= (p.Tyr24112=) c.67734C= (p.Tyr22578=) c.67731C= (p.Tyr22577=) c.64773C= (p.Tyr21591=) c.46389C= (p.Tyr15463=) c.67884C= (p.Tyr22628=) c.67881C= (p.Tyr22627=) c.67314C= (p.Tyr22438=) c.64656C= (p.Tyr21552=) c.64575C= (p.Tyr21525=) c.46338C= (p.Tyr15446=) c.36192C= (p.Tyr12064=) | dbSNP |