| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.49075573G>A | CA214837 | WDR45 | c.697C>T (p.Arg233Ter) c.730C>T (p.Arg244Ter) c.700C>T (p.Arg234Ter) c.476C>T c.391C>T (p.Arg131Ter) c.592C>T (p.Arg198Ter) n.271C>T n.1854C>T c.595C>T (p.Arg199Ter) c.193C>T (p.Arg65Ter) n.302C>T c.496C>T (p.Arg166Ter) n.394C>T c.*348C>T (n.*348C>T) c.625C>T (p.Arg209Ter) | ClinVar dbSNP COSMIC COSMIC |
| X | g.49075573G>T | CA10408482 | WDR45 | c.697C>A (p.Arg233=) c.730C>A (p.Arg244=) c.700C>A (p.Arg234=) c.476C>A c.391C>A (p.Arg131=) c.592C>A (p.Arg198=) n.271C>A n.1854C>A c.595C>A (p.Arg199=) c.193C>A (p.Arg65=) n.302C>A c.496C>A (p.Arg166=) n.394C>A c.*348C>A (n.*348C>A) c.625C>A (p.Arg209=) | dbSNP ExAC gnomAD v2 gnomAD v4 |