| 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 |
| 1 | g.201364336G>C | CA344205784 | TNNT2 | c.436C>G (p.Arg146Gly) c.421C>G (p.Arg141Gly) c.418C>G (p.Arg140Gly) c.451C>G (p.Arg151Gly) c.403C>G (p.Arg135Gly) n.915C>G c.163-2337C>G (n.163-2337C>G) c.*351C>G (n.*351C>G) c.331C>G (p.Arg111Gly) c.427C>G (p.Arg143Gly) c.406C>G (p.Arg136Gly) c.244C>G (p.Arg82Gly) n.677C>G n.1660C>G n.290C>G n.347C>G c.448C>G (p.Arg150Gly) | dbSNP |
| 1 | g.201364336G= | CA1140887106 | TNNT2 | c.436C= (p.Arg146=) c.421C= (p.Arg141=) c.418C= (p.Arg140=) c.451C= (p.Arg151=) c.403C= (p.Arg135=) n.915C= c.163-2337C= (n.163-2337C=) c.*351C= (n.*351C=) c.331C= (p.Arg111=) c.427C= (p.Arg143=) c.406C= (p.Arg136=) c.244C= (p.Arg82=) n.677C= n.1660C= n.290C= n.347C= c.448C= (p.Arg150=) | dbSNP |