| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178540145C>T | CA302342 | TTN,TTN-AS1 | c.90317G>A (p.Arg30106His) c.71402G>A (p.Arg23801His) c.71201G>A (p.Arg23734His) c.70826G>A (p.Arg23609His) c.98021G>A (p.Arg32674His) c.93098G>A (p.Arg31033His) n.446+16509C>T n.1879C>T c.97118G>A (p.Arg32373His) c.71012G>A (p.Arg23671His) c.70871G>A (p.Arg23624His) c.96914G>A (p.Arg32305His) c.92312G>A (p.Arg30771His) c.92309G>A (p.Arg30770His) c.89351G>A (p.Arg29784His) c.70967G>A (p.Arg23656His) c.92462G>A (p.Arg30821His) c.92459G>A (p.Arg30820His) c.91892G>A (p.Arg30631His) c.89234G>A (p.Arg29745His) c.89153G>A (p.Arg29718His) c.70916G>A (p.Arg23639His) c.60770G>A (p.Arg20257His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178540145C= | CA1310516631 | TTN,TTN-AS1 | c.90317G= (p.Arg30106=) c.71402G= (p.Arg23801=) c.71201G= (p.Arg23734=) c.70826G= (p.Arg23609=) c.98021G= (p.Arg32674=) c.93098G= (p.Arg31033=) n.446+16509C= n.1879C= c.97118G= (p.Arg32373=) c.71012G= (p.Arg23671=) c.70871G= (p.Arg23624=) c.96914G= (p.Arg32305=) c.92312G= (p.Arg30771=) c.92309G= (p.Arg30770=) c.89351G= (p.Arg29784=) c.70967G= (p.Arg23656=) c.92462G= (p.Arg30821=) c.92459G= (p.Arg30820=) c.91892G= (p.Arg30631=) c.89234G= (p.Arg29745=) c.89153G= (p.Arg29718=) c.70916G= (p.Arg23639=) c.60770G= (p.Arg20257=) | dbSNP |