| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178608256T>A | CA309264 | TTN,TTN-AS1 | c.44923A>T (p.Arg14975Ter) c.26008A>T (p.Arg8670Ter) c.25807A>T (p.Arg8603Ter) c.25432A>T (p.Arg8478Ter) c.52627A>T (p.Arg17543Ter) c.47704A>T (p.Arg15902Ter) n.772T>A c.51724A>T (p.Arg17242Ter) c.25618A>T (p.Arg8540Ter) c.25477A>T (p.Arg8493Ter) c.51520A>T (p.Arg17174Ter) c.46918A>T (p.Arg15640Ter) c.46915A>T (p.Arg15639Ter) c.43957A>T (p.Arg14653Ter) c.25573A>T (p.Arg8525Ter) c.47068A>T (p.Arg15690Ter) c.47065A>T (p.Arg15689Ter) c.46498A>T (p.Arg15500Ter) c.43840A>T (p.Arg14614Ter) c.43759A>T (p.Arg14587Ter) c.25522A>T (p.Arg8508Ter) c.15376A>T (p.Arg5126Ter) | dbSNP |
| 2 | g.178608256T>G | CA1993960 | TTN,TTN-AS1 | c.44923A>C (p.Arg14975=) c.26008A>C (p.Arg8670=) c.25807A>C (p.Arg8603=) c.25432A>C (p.Arg8478=) c.52627A>C (p.Arg17543=) c.47704A>C (p.Arg15902=) n.772T>G c.51724A>C (p.Arg17242=) c.25618A>C (p.Arg8540=) c.25477A>C (p.Arg8493=) c.51520A>C (p.Arg17174=) c.46918A>C (p.Arg15640=) c.46915A>C (p.Arg15639=) c.43957A>C (p.Arg14653=) c.25573A>C (p.Arg8525=) c.47068A>C (p.Arg15690=) c.47065A>C (p.Arg15689=) c.46498A>C (p.Arg15500=) c.43840A>C (p.Arg14614=) c.43759A>C (p.Arg14587=) c.25522A>C (p.Arg8508=) c.15376A>C (p.Arg5126=) | dbSNP ExAC gnomAD v2 gnomAD v4 |