| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178533241G>T | CA16610211 | TTN,TTN-AS1 | c.95670C>A (p.Tyr31890Ter) c.76755C>A (p.Tyr25585Ter) c.76554C>A (p.Tyr25518Ter) c.76179C>A (p.Tyr25393Ter) c.103374C>A (p.Tyr34458Ter) c.98451C>A (p.Tyr32817Ter) n.446+9605G>T n.220-2491G>T c.102471C>A (p.Tyr34157Ter) c.76365C>A (p.Tyr25455Ter) c.76224C>A (p.Tyr25408Ter) c.102267C>A (p.Tyr34089Ter) c.97665C>A (p.Tyr32555Ter) c.97662C>A (p.Tyr32554Ter) c.94704C>A (p.Tyr31568Ter) c.76320C>A (p.Tyr25440Ter) c.97815C>A (p.Tyr32605Ter) c.97812C>A (p.Tyr32604Ter) c.97245C>A (p.Tyr32415Ter) c.94587C>A (p.Tyr31529Ter) c.94506C>A (p.Tyr31502Ter) c.76269C>A (p.Tyr25423Ter) c.66123C>A (p.Tyr22041Ter) | ClinVar dbSNP |
| 2 | g.178533241G>C | CA349414422 | TTN,TTN-AS1 | c.95670C>G (p.Tyr31890Ter) c.76755C>G (p.Tyr25585Ter) c.76554C>G (p.Tyr25518Ter) c.76179C>G (p.Tyr25393Ter) c.103374C>G (p.Tyr34458Ter) c.98451C>G (p.Tyr32817Ter) n.446+9605G>C n.220-2491G>C c.102471C>G (p.Tyr34157Ter) c.76365C>G (p.Tyr25455Ter) c.76224C>G (p.Tyr25408Ter) c.102267C>G (p.Tyr34089Ter) c.97665C>G (p.Tyr32555Ter) c.97662C>G (p.Tyr32554Ter) c.94704C>G (p.Tyr31568Ter) c.76320C>G (p.Tyr25440Ter) c.97815C>G (p.Tyr32605Ter) c.97812C>G (p.Tyr32604Ter) c.97245C>G (p.Tyr32415Ter) c.94587C>G (p.Tyr31529Ter) c.94506C>G (p.Tyr31502Ter) c.76269C>G (p.Tyr25423Ter) c.66123C>G (p.Tyr22041Ter) | ClinVar dbSNP |