| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31169985C>A | CA499201661 | NF1 | c.574C>A (p.Arg192=) c.166+6609C>A (n.166+6609C>A) n.957C>A n.220+6609C>A c.361+6609C>A c.676C>A (p.Arg226=) c.535C>A (p.Arg179=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31169985C>T | CA325787 | NF1 | c.574C>T (p.Arg192Ter) c.166+6609C>T (n.166+6609C>T) n.957C>T n.220+6609C>T c.361+6609C>T c.676C>T (p.Arg226Ter) c.535C>T (p.Arg179Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |