| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178544424G>T | CA16610217 | TTN,TTN-AS1 | c.88101C>A (p.Tyr29367Ter) c.69186C>A (p.Tyr23062Ter) c.68985C>A (p.Tyr22995Ter) c.68610C>A (p.Tyr22870Ter) c.95805C>A (p.Tyr31935Ter) c.90882C>A (p.Tyr30294Ter) n.446+20788G>T n.2043+2063G>T c.94902C>A (p.Tyr31634Ter) c.68796C>A (p.Tyr22932Ter) c.68655C>A (p.Tyr22885Ter) c.94698C>A (p.Tyr31566Ter) c.90096C>A (p.Tyr30032Ter) c.90093C>A (p.Tyr30031Ter) c.87135C>A (p.Tyr29045Ter) c.68751C>A (p.Tyr22917Ter) c.90246C>A (p.Tyr30082Ter) c.90243C>A (p.Tyr30081Ter) c.89676C>A (p.Tyr29892Ter) c.87018C>A (p.Tyr29006Ter) c.86937C>A (p.Tyr28979Ter) c.68700C>A (p.Tyr22900Ter) c.58554C>A (p.Tyr19518Ter) | ClinVar dbSNP |
| 2 | g.178544424G>A | CA1986875 | TTN,TTN-AS1 | c.88101C>T (p.Tyr29367=) c.69186C>T (p.Tyr23062=) c.68985C>T (p.Tyr22995=) c.68610C>T (p.Tyr22870=) c.95805C>T (p.Tyr31935=) c.90882C>T (p.Tyr30294=) n.446+20788G>A n.2043+2063G>A c.94902C>T (p.Tyr31634=) c.68796C>T (p.Tyr22932=) c.68655C>T (p.Tyr22885=) c.94698C>T (p.Tyr31566=) c.90096C>T (p.Tyr30032=) c.90093C>T (p.Tyr30031=) c.87135C>T (p.Tyr29045=) c.68751C>T (p.Tyr22917=) c.90246C>T (p.Tyr30082=) c.90243C>T (p.Tyr30081=) c.89676C>T (p.Tyr29892=) c.87018C>T (p.Tyr29006=) c.86937C>T (p.Tyr28979=) c.68700C>T (p.Tyr22900=) c.58554C>T (p.Tyr19518=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178544424G= | CA1310521591 | TTN,TTN-AS1 | c.88101C= (p.Tyr29367=) c.69186C= (p.Tyr23062=) c.68985C= (p.Tyr22995=) c.68610C= (p.Tyr22870=) c.95805C= (p.Tyr31935=) c.90882C= (p.Tyr30294=) n.446+20788G= n.2043+2063G= c.94902C= (p.Tyr31634=) c.68796C= (p.Tyr22932=) c.68655C= (p.Tyr22885=) c.94698C= (p.Tyr31566=) c.90096C= (p.Tyr30032=) c.90093C= (p.Tyr30031=) c.87135C= (p.Tyr29045=) c.68751C= (p.Tyr22917=) c.90246C= (p.Tyr30082=) c.90243C= (p.Tyr30081=) c.89676C= (p.Tyr29892=) c.87018C= (p.Tyr29006=) c.86937C= (p.Tyr28979=) c.68700C= (p.Tyr22900=) c.58554C= (p.Tyr19518=) | dbSNP |