| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178598918C>T | CA16610352 | TTN,TTN-AS1 | c.49088G>A (p.Trp16363Ter) c.30173G>A (p.Trp10058Ter) c.29972G>A (p.Trp9991Ter) c.29597G>A (p.Trp9866Ter) c.56792G>A (p.Trp18931Ter) c.51869G>A (p.Trp17290Ter) n.682+1237C>T n.3568+245C>T c.55889G>A (p.Trp18630Ter) c.29783G>A (p.Trp9928Ter) c.29642G>A (p.Trp9881Ter) c.55685G>A (p.Trp18562Ter) c.51083G>A (p.Trp17028Ter) c.51080G>A (p.Trp17027Ter) c.48122G>A (p.Trp16041Ter) c.29738G>A (p.Trp9913Ter) c.51233G>A (p.Trp17078Ter) c.51230G>A (p.Trp17077Ter) c.50663G>A (p.Trp16888Ter) c.48005G>A (p.Trp16002Ter) c.47924G>A (p.Trp15975Ter) c.29687G>A (p.Trp9896Ter) c.19541G>A (p.Trp6514Ter) | ClinVar dbSNP |
| 2 | g.178598918C= | CA1310542975 | TTN,TTN-AS1 | c.49088G= (p.Trp16363=) c.30173G= (p.Trp10058=) c.29972G= (p.Trp9991=) c.29597G= (p.Trp9866=) c.56792G= (p.Trp18931=) c.51869G= (p.Trp17290=) n.682+1237C= n.3568+245C= c.55889G= (p.Trp18630=) c.29783G= (p.Trp9928=) c.29642G= (p.Trp9881=) c.55685G= (p.Trp18562=) c.51083G= (p.Trp17028=) c.51080G= (p.Trp17027=) c.48122G= (p.Trp16041=) c.29738G= (p.Trp9913=) c.51233G= (p.Trp17078=) c.51230G= (p.Trp17077=) c.50663G= (p.Trp16888=) c.48005G= (p.Trp16002=) c.47924G= (p.Trp15975=) c.29687G= (p.Trp9896=) c.19541G= (p.Trp6514=) | dbSNP |
| 2 | g.178598918C>G | CA349526782 | TTN,TTN-AS1 | c.49088G>C (p.Trp16363Ser) c.30173G>C (p.Trp10058Ser) c.29972G>C (p.Trp9991Ser) c.29597G>C (p.Trp9866Ser) c.56792G>C (p.Trp18931Ser) c.51869G>C (p.Trp17290Ser) n.682+1237C>G n.3568+245C>G c.55889G>C (p.Trp18630Ser) c.29783G>C (p.Trp9928Ser) c.29642G>C (p.Trp9881Ser) c.55685G>C (p.Trp18562Ser) c.51083G>C (p.Trp17028Ser) c.51080G>C (p.Trp17027Ser) c.48122G>C (p.Trp16041Ser) c.29738G>C (p.Trp9913Ser) c.51233G>C (p.Trp17078Ser) c.51230G>C (p.Trp17077Ser) c.50663G>C (p.Trp16888Ser) c.48005G>C (p.Trp16002Ser) c.47924G>C (p.Trp15975Ser) c.29687G>C (p.Trp9896Ser) c.19541G>C (p.Trp6514Ser) | dbSNP gnomAD v4 |