Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.31356545dup | CA658824594 | NF1 | c.7683dup (p.Lys2562GlnfsTer9) c.2265dup (p.Lys756GlnfsTer9) c.1857dup (p.Lys620GlnfsTer9) n.4346dup c.751dup c.7731dup (p.Lys2578GlnfsTer9) c.7701dup (p.Lys2568GlnfsTer9) c.7638dup (p.Lys2547GlnfsTer9) c.6636dup (p.Lys2213GlnfsTer9) c.1084dup n.742dup c.7837dup (n.7837dup) c.686dup c.7692dup (p.Lys2565GlnfsTer9) c.7668dup (p.Lys2557GlnfsTer9) c.7728dup (p.Lys2577GlnfsTer9) c.7646-415dup (n.7646-415dup) | ClinVar dbSNP gnomAD v4 |
17 | g.31356545del | CA16615590 | NF1 | c.7683del (p.Met2563Ter) c.2265del (p.Met757Ter) c.1857del (p.Met621Ter) n.4346del c.751del c.7731del (p.Met2579Ter) c.7701del (p.Met2569Ter) c.7638del (p.Met2548Ter) c.6636del (p.Met2214Ter) c.1084del n.742del c.7837del (n.7837del) c.686del c.7692del (p.Met2566Ter) c.7668del (p.Met2558Ter) c.7728del (p.Met2578Ter) c.7646-415del (n.7646-415del) | ClinVar dbSNP |