| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.54728121G>A | CA123500 | KIT | c.1981G>A (p.Gly661Arg) n.2068G>A c.1978G>A (p.Gly660Arg) c.1993G>A (p.Gly665Arg) n.2405G>A n.2148G>A c.1480G>A (p.Gly494Arg) n.2208G>A n.900G>A c.1990G>A (p.Gly664Arg) n.2087G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 4 | g.54728121G= | CA1458739845 | KIT | c.1981G= (p.Gly661=) n.2068G= c.1978G= (p.Gly660=) c.1993G= (p.Gly665=) n.2405G= n.2148G= c.1480G= (p.Gly494=) n.2208G= n.900G= c.1990G= (p.Gly664=) n.2087G= | dbSNP |