| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.156881590G>C | CA256268 | NTRK1 | c.2159G>C (p.Arg720Pro) c.*931G>C (n.*931G>C) c.2339G>C (p.Arg780Pro) c.398G>C c.2330G>C (p.Arg777Pro) c.2321G>C (p.Arg774Pro) c.2231G>C (p.Arg744Pro) n.2792G>C n.382G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.156881590G>A | CA1169637 | NTRK1 | c.2159G>A (p.Arg720Gln) c.*931G>A (n.*931G>A) c.2339G>A (p.Arg780Gln) c.398G>A c.2330G>A (p.Arg777Gln) c.2321G>A (p.Arg774Gln) c.2231G>A (p.Arg744Gln) n.2792G>A n.382G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.156881590G= | CA1140584233 | NTRK1 | c.2159G= (p.Arg720=) c.*931G= (n.*931G=) c.2339G= (p.Arg780=) c.398G= c.2330G= (p.Arg777=) c.2321G= (p.Arg774=) c.2231G= (p.Arg744=) n.2792G= n.382G= | dbSNP |