| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.156879126C>A | CA342939379 | NTRK1 | c.1630C>A (p.His544Asn) c.*402C>A (n.*402C>A) c.1810C>A (p.His604Asn) c.1801C>A (p.His601Asn) c.1792C>A (p.His598Asn) c.1702C>A (p.His568Asn) n.2263C>A | dbSNP |
| 1 | g.156879126C>G | CA342939381 | NTRK1 | c.1630C>G (p.His544Asp) c.*402C>G (n.*402C>G) c.1810C>G (p.His604Asp) c.1801C>G (p.His601Asp) c.1792C>G (p.His598Asp) c.1702C>G (p.His568Asp) n.2263C>G | dbSNP |
| 1 | g.156879126C>T | CA256274 | NTRK1 | c.1630C>T (p.His544Tyr) c.*402C>T (n.*402C>T) c.1810C>T (p.His604Tyr) c.1801C>T (p.His601Tyr) c.1792C>T (p.His598Tyr) c.1702C>T (p.His568Tyr) n.2263C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |