| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178576081G>A | CA16610380 | TTN,TTN-AS1 | c.62347C>T (p.Arg20783Ter) c.43432C>T (p.Arg14478Ter) c.43231C>T (p.Arg14411Ter) c.42856C>T (p.Arg14286Ter) c.70051C>T (p.Arg23351Ter) c.65128C>T (p.Arg21710Ter) n.596+4632G>A n.2044-6491G>A c.69148C>T (p.Arg23050Ter) c.43042C>T (p.Arg14348Ter) c.42901C>T (p.Arg14301Ter) c.68944C>T (p.Arg22982Ter) c.64342C>T (p.Arg21448Ter) c.64339C>T (p.Arg21447Ter) c.61381C>T (p.Arg20461Ter) c.42997C>T (p.Arg14333Ter) c.64492C>T (p.Arg21498Ter) c.64489C>T (p.Arg21497Ter) c.63922C>T (p.Arg21308Ter) c.61264C>T (p.Arg20422Ter) c.61183C>T (p.Arg20395Ter) c.42946C>T (p.Arg14316Ter) c.32800C>T (p.Arg10934Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178576081G>T | CA430258555 | TTN,TTN-AS1 | c.62347C>A (p.Arg20783=) c.43432C>A (p.Arg14478=) c.43231C>A (p.Arg14411=) c.42856C>A (p.Arg14286=) c.70051C>A (p.Arg23351=) c.65128C>A (p.Arg21710=) n.596+4632G>T n.2044-6491G>T c.69148C>A (p.Arg23050=) c.43042C>A (p.Arg14348=) c.42901C>A (p.Arg14301=) c.68944C>A (p.Arg22982=) c.64342C>A (p.Arg21448=) c.64339C>A (p.Arg21447=) c.61381C>A (p.Arg20461=) c.42997C>A (p.Arg14333=) c.64492C>A (p.Arg21498=) c.64489C>A (p.Arg21497=) c.63922C>A (p.Arg21308=) c.61264C>A (p.Arg20422=) c.61183C>A (p.Arg20395=) c.42946C>A (p.Arg14316=) c.32800C>A (p.Arg10934=) | dbSNP |
| 2 | g.178576081G= | CA1310533475 | TTN,TTN-AS1 | c.62347C= (p.Arg20783=) c.43432C= (p.Arg14478=) c.43231C= (p.Arg14411=) c.42856C= (p.Arg14286=) c.70051C= (p.Arg23351=) c.65128C= (p.Arg21710=) n.596+4632G= n.2044-6491G= c.69148C= (p.Arg23050=) c.43042C= (p.Arg14348=) c.42901C= (p.Arg14301=) c.68944C= (p.Arg22982=) c.64342C= (p.Arg21448=) c.64339C= (p.Arg21447=) c.61381C= (p.Arg20461=) c.42997C= (p.Arg14333=) c.64492C= (p.Arg21498=) c.64489C= (p.Arg21497=) c.63922C= (p.Arg21308=) c.61264C= (p.Arg20422=) c.61183C= (p.Arg20395=) c.42946C= (p.Arg14316=) c.32800C= (p.Arg10934=) | dbSNP |