| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.54728092T>A | CA16602524 | KIT | c.1952T>A (p.Val651Glu) n.2039T>A c.1949T>A (p.Val650Glu) c.1964T>A (p.Val655Glu) n.2376T>A n.2119T>A c.1451T>A (p.Val484Glu) n.2179T>A n.871T>A c.1961T>A (p.Val654Glu) n.2058T>A | ClinVar dbSNP |
| 4 | g.54728092T>C | CA16602402 | KIT | c.1952T>C (p.Val651Ala) n.2039T>C c.1949T>C (p.Val650Ala) c.1964T>C (p.Val655Ala) n.2376T>C n.2119T>C c.1451T>C (p.Val484Ala) n.2179T>C n.871T>C c.1961T>C (p.Val654Ala) n.2058T>C | ClinVar dbSNP gnomAD v4 COSMIC |
| 4 | g.54728092T= | CA1458739787 | KIT | c.1952T= (p.Val651=) n.2039T= c.1949T= (p.Val650=) c.1964T= (p.Val655=) n.2376T= n.2119T= c.1451T= (p.Val484=) n.2179T= n.871T= c.1961T= (p.Val654=) n.2058T= | dbSNP |