| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31340535dup | CA16044137 | NF1 | c.6934dup (p.Val2312GlyfsTer9) c.1516dup (p.Val506GlyfsTer9) n.4473dup c.1108dup (p.Val370GlyfsTer9) n.3597dup c.6982dup (p.Val2328GlyfsTer9) c.6952dup (p.Val2318GlyfsTer9) c.6889dup (p.Val2297GlyfsTer9) c.5887dup (p.Val1963GlyfsTer9) c.335dup c.7088dup (n.7088dup) c.95dup n.256dup n.366dup c.6943dup (p.Val2315GlyfsTer9) c.6919dup (p.Val2307GlyfsTer9) c.6979dup (p.Val2327GlyfsTer9) | ClinVar dbSNP |
| 17 | g.31340535del | CA2573153889 | NF1 | c.6934del (p.Val2312Ter) c.1516del (p.Val506Ter) n.4473del c.1108del (p.Val370Ter) n.3597del c.6982del (p.Val2328Ter) c.6952del (p.Val2318Ter) c.6889del (p.Val2297Ter) c.5887del (p.Val1963Ter) c.335del c.7088del (n.7088del) c.95del n.256del n.366del c.6943del (p.Val2315Ter) c.6919del (p.Val2307Ter) c.6979del (p.Val2327Ter) | ClinVar dbSNP |