| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.29222407G>C | CA1593928 | ALK | c.3452C>G (p.Thr1151Arg) c.679C>G n.329C>G c.248C>G (p.Thr83Arg) c.332C>G (p.Thr111Arg) c.146C>G (p.Thr49Arg) c.2321C>G (p.Thr774Arg) c.605C>G (p.Thr202Arg) | dbSNP ExAC gnomAD v2 |
| 2 | g.29222407G>T | CA346463347 | ALK | c.3452C>A (p.Thr1151Lys) c.679C>A n.329C>A c.248C>A (p.Thr83Lys) c.332C>A (p.Thr111Lys) c.146C>A (p.Thr49Lys) c.2321C>A (p.Thr774Lys) c.605C>A (p.Thr202Lys) | dbSNP |
| 2 | g.29222407G>A | CA341488 | ALK | c.3452C>T (p.Thr1151Met) c.679C>T n.329C>T c.248C>T (p.Thr83Met) c.332C>T (p.Thr111Met) c.146C>T (p.Thr49Met) c.2321C>T (p.Thr774Met) c.605C>T (p.Thr202Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |