Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.201363391G>A | CA004632 | TNNT2 | c.490C>T (p.Arg164Ter) c.475C>T (p.Arg159Ter) c.472C>T (p.Arg158Ter) c.505C>T (p.Arg169Ter) c.457C>T (p.Arg153Ter) n.969C>T c.163-1392C>T (n.163-1392C>T) c.*405C>T (n.*405C>T) c.385C>T (p.Arg129Ter) c.481C>T (p.Arg161Ter) c.460C>T (p.Arg154Ter) c.298C>T (p.Arg100Ter) n.798C>T n.731C>T n.1714C>T n.401C>T c.502C>T (p.Arg168Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201363391G>T | CA077282 | TNNT2 | c.490C>A (p.Arg164=) c.475C>A (p.Arg159=) c.472C>A (p.Arg158=) c.505C>A (p.Arg169=) c.457C>A (p.Arg153=) n.969C>A c.163-1392C>A (n.163-1392C>A) c.*405C>A (n.*405C>A) c.385C>A (p.Arg129=) c.481C>A (p.Arg161=) c.460C>A (p.Arg154=) c.298C>A (p.Arg100=) n.798C>A n.731C>A n.1714C>A n.401C>A c.502C>A (p.Arg168=) | dbSNP |