| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201361989G>T | CA089098 | TNNT2 | c.628C>A (p.Arg210=) c.613C>A (p.Arg205=) c.601C>A (p.Arg201=) c.604C>A (p.Arg202=) c.634C>A (p.Arg212=) c.592C>A (p.Arg198=) n.1104C>A c.643C>A (p.Arg215=) c.*2C>A (n.*2C>A) c.*543C>A (n.*543C>A) c.514C>A (p.Arg172=) c.622C>A (p.Arg208=) c.595C>A (p.Arg199=) c.427C>A (p.Arg143=) n.936C>A n.98C>A n.1852C>A n.539C>A c.610C>A (p.Arg204=) c.640C>A (p.Arg214=) c.637C>A (p.Arg213=) c.598C>A (p.Arg200=) c.436C>A (p.Arg146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201361989G>A | CA004855 | TNNT2 | c.628C>T (p.Arg210Trp) c.613C>T (p.Arg205Trp) c.601C>T (p.Arg201Trp) c.604C>T (p.Arg202Trp) c.634C>T (p.Arg212Trp) c.592C>T (p.Arg198Trp) n.1104C>T c.643C>T (p.Arg215Trp) c.*2C>T (n.*2C>T) c.*543C>T (n.*543C>T) c.514C>T (p.Arg172Trp) c.622C>T (p.Arg208Trp) c.595C>T (p.Arg199Trp) c.427C>T (p.Arg143Trp) n.936C>T n.98C>T n.1852C>T n.539C>T c.610C>T (p.Arg204Trp) c.640C>T (p.Arg214Trp) c.637C>T (p.Arg213Trp) c.598C>T (p.Arg200Trp) c.436C>T (p.Arg146Trp) | ClinVar dbSNP gnomAD v4 COSMIC |