| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.54729353C>T | CA16602525 | KIT | c.2000C>T (p.Thr667Ile) n.2087C>T c.1997C>T (p.Thr666Ile) c.2012C>T (p.Thr671Ile) n.2424C>T n.2167C>T c.1499C>T (p.Thr500Ile) n.2227C>T n.919C>T c.2009C>T (p.Thr670Ile) n.2106C>T n.62C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.54729353C>G | CA356909212 | KIT | c.2000C>G (p.Thr667Arg) n.2087C>G c.1997C>G (p.Thr666Arg) c.2012C>G (p.Thr671Arg) n.2424C>G n.2167C>G c.1499C>G (p.Thr500Arg) n.2227C>G n.919C>G c.2009C>G (p.Thr670Arg) n.2106C>G n.62C>G | dbSNP |
| 4 | g.54729353C>A | CA356909210 | KIT | c.2000C>A (p.Thr667Lys) n.2087C>A c.1997C>A (p.Thr666Lys) c.2012C>A (p.Thr671Lys) n.2424C>A n.2167C>A c.1499C>A (p.Thr500Lys) n.2227C>A n.919C>A c.2009C>A (p.Thr670Lys) n.2106C>A n.62C>A | dbSNP |