| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178611092C>A | CA16610437 | TTN,TTN-AS1 | c.43333G>T (p.Glu14445Ter) c.24418G>T (p.Glu8140Ter) c.24217G>T (p.Glu8073Ter) c.23842G>T (p.Glu7948Ter) c.51037G>T (p.Glu17013Ter) c.46114G>T (p.Glu15372Ter) n.782+2826C>A c.50134G>T (p.Glu16712Ter) c.24028G>T (p.Glu8010Ter) c.23887G>T (p.Glu7963Ter) c.49930G>T (p.Glu16644Ter) c.45328G>T (p.Glu15110Ter) c.45325G>T (p.Glu15109Ter) c.42367G>T (p.Glu14123Ter) c.23983G>T (p.Glu7995Ter) c.45478G>T (p.Glu15160Ter) c.45475G>T (p.Glu15159Ter) c.44908G>T (p.Glu14970Ter) c.42250G>T (p.Glu14084Ter) c.42169G>T (p.Glu14057Ter) c.23932G>T (p.Glu7978Ter) c.13786G>T (p.Glu4596Ter) | ClinVar dbSNP |
| 2 | g.178611092C= | CA1310548007 | TTN,TTN-AS1 | c.43333G= (p.Glu14445=) c.24418G= (p.Glu8140=) c.24217G= (p.Glu8073=) c.23842G= (p.Glu7948=) c.51037G= (p.Glu17013=) c.46114G= (p.Glu15372=) n.782+2826C= c.50134G= (p.Glu16712=) c.24028G= (p.Glu8010=) c.23887G= (p.Glu7963=) c.49930G= (p.Glu16644=) c.45328G= (p.Glu15110=) c.45325G= (p.Glu15109=) c.42367G= (p.Glu14123=) c.23983G= (p.Glu7995=) c.45478G= (p.Glu15160=) c.45475G= (p.Glu15159=) c.44908G= (p.Glu14970=) c.42250G= (p.Glu14084=) c.42169G= (p.Glu14057=) c.23932G= (p.Glu7978=) c.13786G= (p.Glu4596=) | dbSNP |