| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178584899C>T | CA16604139 | TTN,TTN-AS1 | c.57038G>A (p.Trp19013Ter) c.38123G>A (p.Trp12708Ter) c.37922G>A (p.Trp12641Ter) c.37547G>A (p.Trp12516Ter) c.64742G>A (p.Trp21581Ter) c.59819G>A (p.Trp19940Ter) n.597-12697C>T n.3094C>T c.63839G>A (p.Trp21280Ter) c.37733G>A (p.Trp12578Ter) c.37592G>A (p.Trp12531Ter) c.63635G>A (p.Trp21212Ter) c.59033G>A (p.Trp19678Ter) c.59030G>A (p.Trp19677Ter) c.56072G>A (p.Trp18691Ter) c.37688G>A (p.Trp12563Ter) c.59183G>A (p.Trp19728Ter) c.59180G>A (p.Trp19727Ter) c.58613G>A (p.Trp19538Ter) c.55955G>A (p.Trp18652Ter) c.55874G>A (p.Trp18625Ter) c.37637G>A (p.Trp12546Ter) c.27491G>A (p.Trp9164Ter) | ClinVar dbSNP |
| 2 | g.178584899C= | CA1310537207 | TTN,TTN-AS1 | c.57038G= (p.Trp19013=) c.38123G= (p.Trp12708=) c.37922G= (p.Trp12641=) c.37547G= (p.Trp12516=) c.64742G= (p.Trp21581=) c.59819G= (p.Trp19940=) n.597-12697C= n.3094C= c.63839G= (p.Trp21280=) c.37733G= (p.Trp12578=) c.37592G= (p.Trp12531=) c.63635G= (p.Trp21212=) c.59033G= (p.Trp19678=) c.59030G= (p.Trp19677=) c.56072G= (p.Trp18691=) c.37688G= (p.Trp12563=) c.59183G= (p.Trp19728=) c.59180G= (p.Trp19727=) c.58613G= (p.Trp19538=) c.55955G= (p.Trp18652=) c.55874G= (p.Trp18625=) c.37637G= (p.Trp12546=) c.27491G= (p.Trp9164=) | dbSNP |