| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178567954C>A | CA309324 | TTN,TTN-AS1 | c.70474G>T (p.Glu23492Ter) c.51559G>T (p.Glu17187Ter) c.51358G>T (p.Glu17120Ter) c.50983G>T (p.Glu16995Ter) c.78178G>T (p.Glu26060Ter) c.73255G>T (p.Glu24419Ter) n.447-3346C>A n.2044-14618C>A c.77275G>T (p.Glu25759Ter) c.51169G>T (p.Glu17057Ter) c.51028G>T (p.Glu17010Ter) c.77071G>T (p.Glu25691Ter) c.72469G>T (p.Glu24157Ter) c.72466G>T (p.Glu24156Ter) c.69508G>T (p.Glu23170Ter) c.51124G>T (p.Glu17042Ter) c.72619G>T (p.Glu24207Ter) c.72616G>T (p.Glu24206Ter) c.72049G>T (p.Glu24017Ter) c.69391G>T (p.Glu23131Ter) c.69310G>T (p.Glu23104Ter) c.51073G>T (p.Glu17025Ter) c.40927G>T (p.Glu13643Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178567954C= | CA1310530117 | TTN,TTN-AS1 | c.70474G= (p.Glu23492=) c.51559G= (p.Glu17187=) c.51358G= (p.Glu17120=) c.50983G= (p.Glu16995=) c.78178G= (p.Glu26060=) c.73255G= (p.Glu24419=) n.447-3346C= n.2044-14618C= c.77275G= (p.Glu25759=) c.51169G= (p.Glu17057=) c.51028G= (p.Glu17010=) c.77071G= (p.Glu25691=) c.72469G= (p.Glu24157=) c.72466G= (p.Glu24156=) c.69508G= (p.Glu23170=) c.51124G= (p.Glu17042=) c.72619G= (p.Glu24207=) c.72616G= (p.Glu24206=) c.72049G= (p.Glu24017=) c.69391G= (p.Glu23131=) c.69310G= (p.Glu23104=) c.51073G= (p.Glu17025=) c.40927G= (p.Glu13643=) | dbSNP |