| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.29223441G>A | CA342013 | ALK | c.3260C>T (p.Thr1087Ile) c.487C>T n.137C>T c.56C>T (p.Thr19Ile) c.140C>T (p.Thr47Ile) c.2129C>T (p.Thr710Ile) c.413C>T (p.Thr138Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.29223441G>C | CA346465124 | ALK | c.3260C>G (p.Thr1087Ser) c.487C>G n.137C>G c.56C>G (p.Thr19Ser) c.140C>G (p.Thr47Ser) c.2129C>G (p.Thr710Ser) c.413C>G (p.Thr138Ser) | ClinVar dbSNP |
| 2 | g.29223441G>T | CA346465126 | ALK | c.3260C>A (p.Thr1087Asn) c.487C>A n.137C>A c.56C>A (p.Thr19Asn) c.140C>A (p.Thr47Asn) c.2129C>A (p.Thr710Asn) c.413C>A (p.Thr138Asn) | ClinVar dbSNP gnomAD v4 |