| 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 |
| 1 | g.201359636C= | CA1141581495 | TNNT2 | c.823G= (p.Asp275=) c.808G= (p.Asp270=) c.796G= (p.Asp266=) c.799G= (p.Asp267=) c.829G= (p.Asp277=) c.787G= (p.Asp263=) n.1299G= c.838G= (p.Asp280=) c.873G= (p.Thr291=) c.*197G= (n.*197G=) c.*738G= (n.*738G=) c.*83G= (n.*83G=) c.709G= (p.Asp237=) c.817G= (p.Asp273=) c.790G= (p.Asp264=) c.622G= (p.Asp208=) n.1957G= n.255G= n.2047G= c.805G= (p.Asp269=) c.835G= (p.Asp279=) c.832G= (p.Asp278=) c.793G= (p.Asp265=) c.631G= (p.Asp211=) | dbSNP |
| 1 | g.201359636C>G | CA344202372 | TNNT2 | c.823G>C (p.Asp275His) c.808G>C (p.Asp270His) c.796G>C (p.Asp266His) c.799G>C (p.Asp267His) c.829G>C (p.Asp277His) c.787G>C (p.Asp263His) n.1299G>C c.838G>C (p.Asp280His) c.873G>C (p.Thr291=) c.*197G>C (n.*197G>C) c.*738G>C (n.*738G>C) c.*83G>C (n.*83G>C) c.709G>C (p.Asp237His) c.817G>C (p.Asp273His) c.790G>C (p.Asp264His) c.622G>C (p.Asp208His) n.1957G>C n.255G>C n.2047G>C c.805G>C (p.Asp269His) c.835G>C (p.Asp279His) c.832G>C (p.Asp278His) c.793G>C (p.Asp265His) c.631G>C (p.Asp211His) | dbSNP gnomAD v4 |