| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178620285G>A | CA1995281 | TTN | c.38532C>T (p.Cys12844=) c.19617C>T (p.Cys6539=) c.19416C>T (p.Cys6472=) c.19041C>T (p.Cys6347=) c.46236C>T (p.Cys15412=) c.41313C>T (p.Cys13771=) c.45333C>T (p.Cys15111=) c.19227C>T (p.Cys6409=) c.19086C>T (p.Cys6362=) c.45129C>T (p.Cys15043=) c.40527C>T (p.Cys13509=) c.40524C>T (p.Cys13508=) c.37566C>T (p.Cys12522=) c.19182C>T (p.Cys6394=) c.40677C>T (p.Cys13559=) c.40674C>T (p.Cys13558=) c.40107C>T (p.Cys13369=) c.37449C>T (p.Cys12483=) c.37368C>T (p.Cys12456=) c.19131C>T (p.Cys6377=) c.8985C>T (p.Cys2995=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178620285G>T | CA090328 | TTN | c.38532C>A (p.Cys12844Ter) c.19617C>A (p.Cys6539Ter) c.19416C>A (p.Cys6472Ter) c.19041C>A (p.Cys6347Ter) c.46236C>A (p.Cys15412Ter) c.41313C>A (p.Cys13771Ter) c.45333C>A (p.Cys15111Ter) c.19227C>A (p.Cys6409Ter) c.19086C>A (p.Cys6362Ter) c.45129C>A (p.Cys15043Ter) c.40527C>A (p.Cys13509Ter) c.40524C>A (p.Cys13508Ter) c.37566C>A (p.Cys12522Ter) c.19182C>A (p.Cys6394Ter) c.40677C>A (p.Cys13559Ter) c.40674C>A (p.Cys13558Ter) c.40107C>A (p.Cys13369Ter) c.37449C>A (p.Cys12483Ter) c.37368C>A (p.Cys12456Ter) c.19131C>A (p.Cys6377Ter) c.8985C>A (p.Cys2995Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178620285G= | CA1310551719 | TTN | c.38532C= (p.Cys12844=) c.19617C= (p.Cys6539=) c.19416C= (p.Cys6472=) c.19041C= (p.Cys6347=) c.46236C= (p.Cys15412=) c.41313C= (p.Cys13771=) c.45333C= (p.Cys15111=) c.19227C= (p.Cys6409=) c.19086C= (p.Cys6362=) c.45129C= (p.Cys15043=) c.40527C= (p.Cys13509=) c.40524C= (p.Cys13508=) c.37566C= (p.Cys12522=) c.19182C= (p.Cys6394=) c.40677C= (p.Cys13559=) c.40674C= (p.Cys13558=) c.40107C= (p.Cys13369=) c.37449C= (p.Cys12483=) c.37368C= (p.Cys12456=) c.19131C= (p.Cys6377=) c.8985C= (p.Cys2995=) | dbSNP |