| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.55137176C>A | CA215410 | TNNT1 | c.538G>T (p.Glu180Ter) c.505G>T (p.Glu169Ter) c.328G>T (p.Glu110Ter) c.2G>T c.590G>T c.229G>T (p.Glu77Ter) c.191G>T c.381G>T c.574G>T (p.Glu192Ter) c.562G>T (p.Glu188Ter) c.541G>T (p.Glu181Ter) c.526G>T (p.Glu176Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.55137176C>T | CA407432749 | TNNT1 | c.538G>A (p.Glu180Lys) c.505G>A (p.Glu169Lys) c.328G>A (p.Glu110Lys) c.2G>A c.590G>A c.229G>A (p.Glu77Lys) c.191G>A c.381G>A c.574G>A (p.Glu192Lys) c.562G>A (p.Glu188Lys) c.541G>A (p.Glu181Lys) c.526G>A (p.Glu176Lys) | dbSNP gnomAD v4 |
| 19 | g.55137176C= | CA2343264150 | TNNT1 | c.538G= (p.Glu180=) c.505G= (p.Glu169=) c.328G= (p.Glu110=) c.2G= c.590G= c.229G= (p.Glu77=) c.191G= c.381G= c.574G= (p.Glu192=) c.562G= (p.Glu188=) c.541G= (p.Glu181=) c.526G= (p.Glu176=) | dbSNP |