| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178560618A>C | CA16603877 | TTN,TTN-AS1 | c.77810T>G (p.Leu25937Ter) c.58895T>G (p.Leu19632Ter) c.58694T>G (p.Leu19565Ter) c.58319T>G (p.Leu19440Ter) c.85514T>G (p.Leu28505Ter) c.80591T>G (p.Leu26864Ter) n.447-10682A>C n.2043+18257A>C c.84611T>G (p.Leu28204Ter) c.58505T>G (p.Leu19502Ter) c.58364T>G (p.Leu19455Ter) c.84407T>G (p.Leu28136Ter) c.79805T>G (p.Leu26602Ter) c.79802T>G (p.Leu26601Ter) c.76844T>G (p.Leu25615Ter) c.58460T>G (p.Leu19487Ter) c.79955T>G (p.Leu26652Ter) c.79952T>G (p.Leu26651Ter) c.79385T>G (p.Leu26462Ter) c.76727T>G (p.Leu25576Ter) c.76646T>G (p.Leu25549Ter) c.58409T>G (p.Leu19470Ter) c.48263T>G (p.Leu16088Ter) | ClinVar dbSNP |
| 2 | g.178560618A= | CA1310527110 | TTN,TTN-AS1 | c.77810T= (p.Leu25937=) c.58895T= (p.Leu19632=) c.58694T= (p.Leu19565=) c.58319T= (p.Leu19440=) c.85514T= (p.Leu28505=) c.80591T= (p.Leu26864=) n.447-10682A= n.2043+18257A= c.84611T= (p.Leu28204=) c.58505T= (p.Leu19502=) c.58364T= (p.Leu19455=) c.84407T= (p.Leu28136=) c.79805T= (p.Leu26602=) c.79802T= (p.Leu26601=) c.76844T= (p.Leu25615=) c.58460T= (p.Leu19487=) c.79955T= (p.Leu26652=) c.79952T= (p.Leu26651=) c.79385T= (p.Leu26462=) c.76727T= (p.Leu25576=) c.76646T= (p.Leu25549=) c.58409T= (p.Leu19470=) c.48263T= (p.Leu16088=) | dbSNP |