| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.156879336G>T | CA341877 | NTRK1 | c.1840G>T (p.Asp614Tyr) c.*612G>T (n.*612G>T) c.2020G>T (p.Asp674Tyr) c.2011G>T (p.Asp671Tyr) c.2002G>T (p.Asp668Tyr) c.1912G>T (p.Asp638Tyr) n.2473G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.156879336G>C | CA342940051 | NTRK1 | c.1840G>C (p.Asp614His) c.*612G>C (n.*612G>C) c.2020G>C (p.Asp674His) c.2011G>C (p.Asp671His) c.2002G>C (p.Asp668His) c.1912G>C (p.Asp638His) n.2473G>C | dbSNP |
| 1 | g.156879336G>A | CA342940050 | NTRK1 | c.1840G>A (p.Asp614Asn) c.*612G>A (n.*612G>A) c.2020G>A (p.Asp674Asn) c.2011G>A (p.Asp671Asn) c.2002G>A (p.Asp668Asn) c.1912G>A (p.Asp638Asn) n.2473G>A | dbSNP |