| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178565416G>A | CA273669 | TTN,TTN-AS1 | c.73012C>T (p.Arg24338Ter) c.54097C>T (p.Arg18033Ter) c.53896C>T (p.Arg17966Ter) c.53521C>T (p.Arg17841Ter) c.80716C>T (p.Arg26906Ter) c.75793C>T (p.Arg25265Ter) n.447-5884G>A n.2044-17156G>A c.79813C>T (p.Arg26605Ter) c.53707C>T (p.Arg17903Ter) c.53566C>T (p.Arg17856Ter) c.79609C>T (p.Arg26537Ter) c.75007C>T (p.Arg25003Ter) c.75004C>T (p.Arg25002Ter) c.72046C>T (p.Arg24016Ter) c.53662C>T (p.Arg17888Ter) c.75157C>T (p.Arg25053Ter) c.75154C>T (p.Arg25052Ter) c.74587C>T (p.Arg24863Ter) c.71929C>T (p.Arg23977Ter) c.71848C>T (p.Arg23950Ter) c.53611C>T (p.Arg17871Ter) c.43465C>T (p.Arg14489Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178565416G= | CA1310529057 | TTN,TTN-AS1 | c.73012C= (p.Arg24338=) c.54097C= (p.Arg18033=) c.53896C= (p.Arg17966=) c.53521C= (p.Arg17841=) c.80716C= (p.Arg26906=) c.75793C= (p.Arg25265=) n.447-5884G= n.2044-17156G= c.79813C= (p.Arg26605=) c.53707C= (p.Arg17903=) c.53566C= (p.Arg17856=) c.79609C= (p.Arg26537=) c.75007C= (p.Arg25003=) c.75004C= (p.Arg25002=) c.72046C= (p.Arg24016=) c.53662C= (p.Arg17888=) c.75157C= (p.Arg25053=) c.75154C= (p.Arg25052=) c.74587C= (p.Arg24863=) c.71929C= (p.Arg23977=) c.71848C= (p.Arg23950=) c.53611C= (p.Arg17871=) c.43465C= (p.Arg14489=) | dbSNP |