| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178549757G>T | CA16610337 | TTN,TTN-AS1 | c.84261C>A (p.Tyr28087Ter) c.65346C>A (p.Tyr21782Ter) c.65145C>A (p.Tyr21715Ter) c.64770C>A (p.Tyr21590Ter) c.91965C>A (p.Tyr30655Ter) c.87042C>A (p.Tyr29014Ter) n.447-21543G>T n.2043+7396G>T c.91062C>A (p.Tyr30354Ter) c.64956C>A (p.Tyr21652Ter) c.64815C>A (p.Tyr21605Ter) c.90858C>A (p.Tyr30286Ter) c.86256C>A (p.Tyr28752Ter) c.86253C>A (p.Tyr28751Ter) c.83295C>A (p.Tyr27765Ter) c.64911C>A (p.Tyr21637Ter) c.86406C>A (p.Tyr28802Ter) c.86403C>A (p.Tyr28801Ter) c.85836C>A (p.Tyr28612Ter) c.83178C>A (p.Tyr27726Ter) c.83097C>A (p.Tyr27699Ter) c.64860C>A (p.Tyr21620Ter) c.54714C>A (p.Tyr18238Ter) | ClinVar dbSNP |
| 2 | g.178549757G= | CA1310520094 | TTN,TTN-AS1 | c.84261C= (p.Tyr28087=) c.65346C= (p.Tyr21782=) c.65145C= (p.Tyr21715=) c.64770C= (p.Tyr21590=) c.91965C= (p.Tyr30655=) c.87042C= (p.Tyr29014=) n.447-21543G= n.2043+7396G= c.91062C= (p.Tyr30354=) c.64956C= (p.Tyr21652=) c.64815C= (p.Tyr21605=) c.90858C= (p.Tyr30286=) c.86256C= (p.Tyr28752=) c.86253C= (p.Tyr28751=) c.83295C= (p.Tyr27765=) c.64911C= (p.Tyr21637=) c.86406C= (p.Tyr28802=) c.86403C= (p.Tyr28801=) c.85836C= (p.Tyr28612=) c.83178C= (p.Tyr27726=) c.83097C= (p.Tyr27699=) c.64860C= (p.Tyr21620=) c.54714C= (p.Tyr18238=) | dbSNP |