| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201359637G>A | CA005180 | TNNT2 | c.822C>T (p.Asn274=) c.807C>T (p.Asn269=) c.795C>T (p.Asn265=) c.798C>T (p.Asn266=) c.828C>T (p.Asn276=) c.786C>T (p.Asn262=) n.1298C>T c.837C>T (p.Asn279=) c.872C>T (p.Thr291Met) c.*196C>T (n.*196C>T) c.*737C>T (n.*737C>T) c.*82C>T (n.*82C>T) c.708C>T (p.Asn236=) c.816C>T (p.Asn272=) c.789C>T (p.Asn263=) c.621C>T (p.Asn207=) n.1956C>T n.254C>T n.2046C>T c.804C>T (p.Asn268=) c.834C>T (p.Asn278=) c.831C>T (p.Asn277=) c.792C>T (p.Asn264=) c.630C>T (p.Asn210=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201359637G>T | CA005173 | TNNT2 | c.822C>A (p.Asn274Lys) c.807C>A (p.Asn269Lys) c.795C>A (p.Asn265Lys) c.798C>A (p.Asn266Lys) c.828C>A (p.Asn276Lys) c.786C>A (p.Asn262Lys) n.1298C>A c.837C>A (p.Asn279Lys) c.872C>A (p.Thr291Lys) c.*196C>A (n.*196C>A) c.*737C>A (n.*737C>A) c.*82C>A (n.*82C>A) c.708C>A (p.Asn236Lys) c.816C>A (p.Asn272Lys) c.789C>A (p.Asn263Lys) c.621C>A (p.Asn207Lys) n.1956C>A n.254C>A n.2046C>A c.804C>A (p.Asn268Lys) c.834C>A (p.Asn278Lys) c.831C>A (p.Asn277Lys) c.792C>A (p.Asn264Lys) c.630C>A (p.Asn210Lys) | ClinVar dbSNP gnomAD v4 |