| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.54728055A>C | CA356908588 | KIT | c.1915A>C (p.Lys639Gln) n.2002A>C c.1912A>C (p.Lys638Gln) c.1927A>C (p.Lys643Gln) n.2339A>C n.2082A>C c.1414A>C (p.Lys472Gln) n.2142A>C n.834A>C c.1924A>C (p.Lys642Gln) n.2021A>C | ClinVar dbSNP COSMIC |
| 4 | g.54728055A>G | CA123547 | KIT | c.1915A>G (p.Lys639Glu) n.2002A>G c.1912A>G (p.Lys638Glu) c.1927A>G (p.Lys643Glu) n.2339A>G n.2082A>G c.1414A>G (p.Lys472Glu) n.2142A>G n.834A>G c.1924A>G (p.Lys642Glu) n.2021A>G | ClinVar dbSNP COSMIC |
| 4 | g.54728055A>T | CA356908591 | KIT | c.1915A>T (p.Lys639Ter) n.2002A>T c.1912A>T (p.Lys638Ter) c.1927A>T (p.Lys643Ter) n.2339A>T n.2082A>T c.1414A>T (p.Lys472Ter) n.2142A>T n.834A>T c.1924A>T (p.Lys642Ter) n.2021A>T | dbSNP |