| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.156879262G>T | CA342939871 | NTRK1 | c.1766G>T (p.Arg589Leu) c.*538G>T (n.*538G>T) c.1946G>T (p.Arg649Leu) c.1937G>T (p.Arg646Leu) c.1928G>T (p.Arg643Leu) c.1838G>T (p.Arg613Leu) n.2399G>T | ClinVar dbSNP |
| 1 | g.156879262G>A | CA235758 | NTRK1 | c.1766G>A (p.Arg589Gln) c.*538G>A (n.*538G>A) c.1946G>A (p.Arg649Gln) c.1937G>A (p.Arg646Gln) c.1928G>A (p.Arg643Gln) c.1838G>A (p.Arg613Gln) n.2399G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.156879262G>C | CA342939869 | NTRK1 | c.1766G>C (p.Arg589Pro) c.*538G>C (n.*538G>C) c.1946G>C (p.Arg649Pro) c.1937G>C (p.Arg646Pro) c.1928G>C (p.Arg643Pro) c.1838G>C (p.Arg613Pro) n.2399G>C | dbSNP |