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 |