| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178562091G>C | CA16603993 | TTN,TTN-AS1 | c.76337C>G (p.Ser25446Ter) c.57422C>G (p.Ser19141Ter) c.57221C>G (p.Ser19074Ter) c.56846C>G (p.Ser18949Ter) c.84041C>G (p.Ser28014Ter) c.79118C>G (p.Ser26373Ter) n.447-9209G>C n.2043+19730G>C c.83138C>G (p.Ser27713Ter) c.57032C>G (p.Ser19011Ter) c.56891C>G (p.Ser18964Ter) c.82934C>G (p.Ser27645Ter) c.78332C>G (p.Ser26111Ter) c.78329C>G (p.Ser26110Ter) c.75371C>G (p.Ser25124Ter) c.56987C>G (p.Ser18996Ter) c.78482C>G (p.Ser26161Ter) c.78479C>G (p.Ser26160Ter) c.77912C>G (p.Ser25971Ter) c.75254C>G (p.Ser25085Ter) c.75173C>G (p.Ser25058Ter) c.56936C>G (p.Ser18979Ter) c.46790C>G (p.Ser15597Ter) | ClinVar dbSNP |
| 2 | g.178562091G>A | CA349562745 | TTN,TTN-AS1 | c.76337C>T (p.Ser25446Leu) c.57422C>T (p.Ser19141Leu) c.57221C>T (p.Ser19074Leu) c.56846C>T (p.Ser18949Leu) c.84041C>T (p.Ser28014Leu) c.79118C>T (p.Ser26373Leu) n.447-9209G>A n.2043+19730G>A c.83138C>T (p.Ser27713Leu) c.57032C>T (p.Ser19011Leu) c.56891C>T (p.Ser18964Leu) c.82934C>T (p.Ser27645Leu) c.78332C>T (p.Ser26111Leu) c.78329C>T (p.Ser26110Leu) c.75371C>T (p.Ser25124Leu) c.56987C>T (p.Ser18996Leu) c.78482C>T (p.Ser26161Leu) c.78479C>T (p.Ser26160Leu) c.77912C>T (p.Ser25971Leu) c.75254C>T (p.Ser25085Leu) c.75173C>T (p.Ser25058Leu) c.56936C>T (p.Ser18979Leu) c.46790C>T (p.Ser15597Leu) | dbSNP |
| 2 | g.178562091G= | CA1310527724 | TTN,TTN-AS1 | c.76337C= (p.Ser25446=) c.57422C= (p.Ser19141=) c.57221C= (p.Ser19074=) c.56846C= (p.Ser18949=) c.84041C= (p.Ser28014=) c.79118C= (p.Ser26373=) n.447-9209G= n.2043+19730G= c.83138C= (p.Ser27713=) c.57032C= (p.Ser19011=) c.56891C= (p.Ser18964=) c.82934C= (p.Ser27645=) c.78332C= (p.Ser26111=) c.78329C= (p.Ser26110=) c.75371C= (p.Ser25124=) c.56987C= (p.Ser18996=) c.78482C= (p.Ser26161=) c.78479C= (p.Ser26160=) c.77912C= (p.Ser25971=) c.75254C= (p.Ser25085=) c.75173C= (p.Ser25058=) c.56936C= (p.Ser18979=) c.46790C= (p.Ser15597=) | dbSNP |