| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.29220776C>G | CA341486 | ALK | c.3575G>C (p.Arg1192Pro) c.802G>C n.452G>C c.371G>C (p.Arg124Pro) c.455G>C (p.Arg152Pro) c.2444G>C (p.Arg815Pro) c.728G>C (p.Arg243Pro) | ClinVar dbSNP |
| 2 | g.29220776C>T | CA346473083 | ALK | c.3575G>A (p.Arg1192Gln) c.802G>A n.452G>A c.371G>A (p.Arg124Gln) c.455G>A (p.Arg152Gln) c.2444G>A (p.Arg815Gln) c.728G>A (p.Arg243Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.29220776C= | CA1241089782 | ALK | c.3575G= (p.Arg1192=) c.802G= n.452G= c.371G= (p.Arg124=) c.455G= (p.Arg152=) c.2444G= (p.Arg815=) c.728G= (p.Arg243=) | dbSNP |
| 2 | g.29220776C>A | CA346473082 | ALK | c.3575G>T (p.Arg1192Leu) c.802G>T n.452G>T c.371G>T (p.Arg124Leu) c.455G>T (p.Arg152Leu) c.2444G>T (p.Arg815Leu) c.728G>T (p.Arg243Leu) | ClinVar dbSNP gnomAD v4 |