| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201359245G>A | CA005245 | TNNT2 | c.847C>T (p.Arg283Cys) c.832C>T (p.Arg278Cys) c.820C>T (p.Arg274Cys) c.823C>T (p.Arg275Cys) c.853C>T (p.Arg285Cys) c.811C>T (p.Arg271Cys) n.1323C>T c.862C>T (p.Arg288Cys) c.897C>T (p.Pro299=) c.*221C>T (n.*221C>T) c.*762C>T (n.*762C>T) c.*107C>T (n.*107C>T) c.733C>T (p.Arg245Cys) c.841C>T (p.Arg281Cys) c.814C>T (p.Arg272Cys) c.646C>T (p.Arg216Cys) c.814C>T n.1981C>T n.279C>T n.2071C>T c.829C>T (p.Arg277Cys) c.859C>T (p.Arg287Cys) c.856C>T (p.Arg286Cys) c.817C>T (p.Arg273Cys) c.655C>T (p.Arg219Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201359245G>C | CA344201902 | TNNT2 | c.847C>G (p.Arg283Gly) c.832C>G (p.Arg278Gly) c.820C>G (p.Arg274Gly) c.823C>G (p.Arg275Gly) c.853C>G (p.Arg285Gly) c.811C>G (p.Arg271Gly) n.1323C>G c.862C>G (p.Arg288Gly) c.897C>G (p.Pro299=) c.*221C>G (n.*221C>G) c.*762C>G (n.*762C>G) c.*107C>G (n.*107C>G) c.733C>G (p.Arg245Gly) c.841C>G (p.Arg281Gly) c.814C>G (p.Arg272Gly) c.646C>G (p.Arg216Gly) c.814C>G n.1981C>G n.279C>G n.2071C>G c.829C>G (p.Arg277Gly) c.859C>G (p.Arg287Gly) c.856C>G (p.Arg286Gly) c.817C>G (p.Arg273Gly) c.655C>G (p.Arg219Gly) | dbSNP |
| 1 | g.201359245G= | CA1141581494 | TNNT2 | c.847C= (p.Arg283=) c.832C= (p.Arg278=) c.820C= (p.Arg274=) c.823C= (p.Arg275=) c.853C= (p.Arg285=) c.811C= (p.Arg271=) n.1323C= c.862C= (p.Arg288=) c.897C= (p.Pro299=) c.*221C= (n.*221C=) c.*762C= (n.*762C=) c.*107C= (n.*107C=) c.733C= (p.Arg245=) c.841C= (p.Arg281=) c.814C= (p.Arg272=) c.646C= (p.Arg216=) c.814C= n.1981C= n.279C= n.2071C= c.829C= (p.Arg277=) c.859C= (p.Arg287=) c.856C= (p.Arg286=) c.817C= (p.Arg273=) c.655C= (p.Arg219=) | dbSNP |