| 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) | ClinVar 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 |
| 2 | g.29222407G= | CA1241090538 | ALK | c.3452C= (p.Thr1151=) c.679C= n.329C= c.248C= (p.Thr83=) c.332C= (p.Thr111=) c.146C= (p.Thr49=) c.2321C= (p.Thr774=) c.605C= (p.Thr202=) | dbSNP dbSNP |