| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.54728057A>T | CA356908602 | KIT | c.1917A>T (p.Lys639Asn) n.2004A>T c.1914A>T (p.Lys638Asn) c.1929A>T (p.Lys643Asn) n.2341A>T n.2084A>T c.1416A>T (p.Lys472Asn) n.2144A>T n.836A>T c.1926A>T (p.Lys642Asn) n.2023A>T | dbSNP |
| 4 | g.54728057A>G | CA439291475 | KIT | c.1917A>G (p.Lys639=) n.2004A>G c.1914A>G (p.Lys638=) c.1929A>G (p.Lys643=) n.2341A>G n.2084A>G c.1416A>G (p.Lys472=) n.2144A>G n.836A>G c.1926A>G (p.Lys642=) n.2023A>G | ClinVar dbSNP |
| 4 | g.54728057A>C | CA16602875 | KIT | c.1917A>C (p.Lys639Asn) n.2004A>C c.1914A>C (p.Lys638Asn) c.1929A>C (p.Lys643Asn) n.2341A>C n.2084A>C c.1416A>C (p.Lys472Asn) n.2144A>C n.836A>C c.1926A>C (p.Lys642Asn) n.2023A>C | ClinVar dbSNP COSMIC |