| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201364336G>T | CA088600 | TNNT2 | c.436C>A (p.Arg146=) c.421C>A (p.Arg141=) c.418C>A (p.Arg140=) c.451C>A (p.Arg151=) c.403C>A (p.Arg135=) n.915C>A c.163-2337C>A (n.163-2337C>A) c.*351C>A (n.*351C>A) c.331C>A (p.Arg111=) c.427C>A (p.Arg143=) c.406C>A (p.Arg136=) c.244C>A (p.Arg82=) n.677C>A n.1660C>A n.290C>A n.347C>A c.448C>A (p.Arg150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201364336G>A | CA004526 | TNNT2 | c.436C>T (p.Arg146Trp) c.421C>T (p.Arg141Trp) c.418C>T (p.Arg140Trp) c.451C>T (p.Arg151Trp) c.403C>T (p.Arg135Trp) n.915C>T c.163-2337C>T (n.163-2337C>T) c.*351C>T (n.*351C>T) c.331C>T (p.Arg111Trp) c.427C>T (p.Arg143Trp) c.406C>T (p.Arg136Trp) c.244C>T (p.Arg82Trp) n.677C>T n.1660C>T n.290C>T n.347C>T c.448C>T (p.Arg150Trp) | ClinVar dbSNP gnomAD v4 |