| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201359221G>T | CA344201835 | TNNT2 | c.871C>A (p.Arg291Ser) c.856C>A (p.Arg286Ser) c.844C>A (p.Arg282Ser) c.847C>A (p.Arg283Ser) c.877C>A (p.Arg293Ser) c.835C>A (p.Arg279Ser) n.1347C>A c.886C>A (p.Arg296Ser) c.921C>A (p.Gly307=) c.*245C>A (n.*245C>A) c.*786C>A (n.*786C>A) c.*131C>A (n.*131C>A) c.757C>A (p.Arg253Ser) c.865C>A (p.Arg289Ser) c.838C>A (p.Arg280Ser) c.670C>A (p.Arg224Ser) n.2005C>A n.303C>A n.2095C>A c.853C>A (p.Arg285Ser) c.883C>A (p.Arg295Ser) c.880C>A (p.Arg294Ser) c.841C>A (p.Arg281Ser) c.679C>A (p.Arg227Ser) | ClinVar dbSNP |
| 1 | g.201359221G>A | CA088845 | TNNT2 | c.871C>T (p.Arg291Cys) c.856C>T (p.Arg286Cys) c.844C>T (p.Arg282Cys) c.847C>T (p.Arg283Cys) c.877C>T (p.Arg293Cys) c.835C>T (p.Arg279Cys) n.1347C>T c.886C>T (p.Arg296Cys) c.921C>T (p.Gly307=) c.*245C>T (n.*245C>T) c.*786C>T (n.*786C>T) c.*131C>T (n.*131C>T) c.757C>T (p.Arg253Cys) c.865C>T (p.Arg289Cys) c.838C>T (p.Arg280Cys) c.670C>T (p.Arg224Cys) n.2005C>T n.303C>T n.2095C>T c.853C>T (p.Arg285Cys) c.883C>T (p.Arg295Cys) c.880C>T (p.Arg294Cys) c.841C>T (p.Arg281Cys) c.679C>T (p.Arg227Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.201359221G= | CA1143554443 | TNNT2 | c.871C= (p.Arg291=) c.856C= (p.Arg286=) c.844C= (p.Arg282=) c.847C= (p.Arg283=) c.877C= (p.Arg293=) c.835C= (p.Arg279=) n.1347C= c.886C= (p.Arg296=) c.921C= (p.Gly307=) c.*245C= (n.*245C=) c.*786C= (n.*786C=) c.*131C= (n.*131C=) c.757C= (p.Arg253=) c.865C= (p.Arg289=) c.838C= (p.Arg280=) c.670C= (p.Arg224=) n.2005C= n.303C= n.2095C= c.853C= (p.Arg285=) c.883C= (p.Arg295=) c.880C= (p.Arg294=) c.841C= (p.Arg281=) c.679C= (p.Arg227=) | dbSNP |