| 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 |
| 1 | g.201363391G>C | CA344204620 | TNNT2 | c.490C>G (p.Arg164Gly) c.475C>G (p.Arg159Gly) c.472C>G (p.Arg158Gly) c.505C>G (p.Arg169Gly) c.457C>G (p.Arg153Gly) n.969C>G c.163-1392C>G (n.163-1392C>G) c.*405C>G (n.*405C>G) c.385C>G (p.Arg129Gly) c.481C>G (p.Arg161Gly) c.460C>G (p.Arg154Gly) c.298C>G (p.Arg100Gly) n.798C>G n.731C>G n.1714C>G n.401C>G c.502C>G (p.Arg168Gly) | ClinVar dbSNP |
| 1 | g.201363391G= | CA1144229078 | TNNT2 | c.490C= (p.Arg164=) c.475C= (p.Arg159=) c.472C= (p.Arg158=) c.505C= (p.Arg169=) c.457C= (p.Arg153=) n.969C= c.163-1392C= (n.163-1392C=) c.*405C= (n.*405C=) c.385C= (p.Arg129=) c.481C= (p.Arg161=) c.460C= (p.Arg154=) c.298C= (p.Arg100=) n.798C= n.731C= n.1714C= n.401C= c.502C= (p.Arg168=) | dbSNP |