| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201359636C>A | CA089206 | TNNT2 | c.823G>T (p.Asp275Tyr) c.808G>T (p.Asp270Tyr) c.796G>T (p.Asp266Tyr) c.799G>T (p.Asp267Tyr) c.829G>T (p.Asp277Tyr) c.787G>T (p.Asp263Tyr) n.1299G>T c.838G>T (p.Asp280Tyr) c.873G>T (p.Thr291=) c.*197G>T (n.*197G>T) c.*738G>T (n.*738G>T) c.*83G>T (n.*83G>T) c.709G>T (p.Asp237Tyr) c.817G>T (p.Asp273Tyr) c.790G>T (p.Asp264Tyr) c.622G>T (p.Asp208Tyr) n.1957G>T n.255G>T n.2047G>T c.805G>T (p.Asp269Tyr) c.835G>T (p.Asp279Tyr) c.832G>T (p.Asp278Tyr) c.793G>T (p.Asp265Tyr) c.631G>T (p.Asp211Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201359636C>T | CA005187 | TNNT2 | c.823G>A (p.Asp275Asn) c.808G>A (p.Asp270Asn) c.796G>A (p.Asp266Asn) c.799G>A (p.Asp267Asn) c.829G>A (p.Asp277Asn) c.787G>A (p.Asp263Asn) n.1299G>A c.838G>A (p.Asp280Asn) c.873G>A (p.Thr291=) c.*197G>A (n.*197G>A) c.*738G>A (n.*738G>A) c.*83G>A (n.*83G>A) c.709G>A (p.Asp237Asn) c.817G>A (p.Asp273Asn) c.790G>A (p.Asp264Asn) c.622G>A (p.Asp208Asn) n.1957G>A n.255G>A n.2047G>A c.805G>A (p.Asp269Asn) c.835G>A (p.Asp279Asn) c.832G>A (p.Asp278Asn) c.793G>A (p.Asp265Asn) c.631G>A (p.Asp211Asn) | ClinVar dbSNP gnomAD v4 |