| 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 |
| 2 | g.178533241G>A | CA430237179 | TTN,TTN-AS1 | c.95670C>T (p.Tyr31890=) c.76755C>T (p.Tyr25585=) c.76554C>T (p.Tyr25518=) c.76179C>T (p.Tyr25393=) c.103374C>T (p.Tyr34458=) c.98451C>T (p.Tyr32817=) n.446+9605G>A n.220-2491G>A c.102471C>T (p.Tyr34157=) c.76365C>T (p.Tyr25455=) c.76224C>T (p.Tyr25408=) c.102267C>T (p.Tyr34089=) c.97665C>T (p.Tyr32555=) c.97662C>T (p.Tyr32554=) c.94704C>T (p.Tyr31568=) c.76320C>T (p.Tyr25440=) c.97815C>T (p.Tyr32605=) c.97812C>T (p.Tyr32604=) c.97245C>T (p.Tyr32415=) c.94587C>T (p.Tyr31529=) c.94506C>T (p.Tyr31502=) c.76269C>T (p.Tyr25423=) c.66123C>T (p.Tyr22041=) | dbSNP gnomAD v4 |
| 2 | g.178533241G= | CA1310518583 | TTN,TTN-AS1 | c.95670C= (p.Tyr31890=) c.76755C= (p.Tyr25585=) c.76554C= (p.Tyr25518=) c.76179C= (p.Tyr25393=) c.103374C= (p.Tyr34458=) c.98451C= (p.Tyr32817=) n.446+9605G= n.220-2491G= c.102471C= (p.Tyr34157=) c.76365C= (p.Tyr25455=) c.76224C= (p.Tyr25408=) c.102267C= (p.Tyr34089=) c.97665C= (p.Tyr32555=) c.97662C= (p.Tyr32554=) c.94704C= (p.Tyr31568=) c.76320C= (p.Tyr25440=) c.97815C= (p.Tyr32605=) c.97812C= (p.Tyr32604=) c.97245C= (p.Tyr32415=) c.94587C= (p.Tyr31529=) c.94506C= (p.Tyr31502=) c.76269C= (p.Tyr25423=) c.66123C= (p.Tyr22041=) | dbSNP |