| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31349244C>G | CA16615290 | NF1 | c.7296C>G (p.Tyr2432Ter) c.1878C>G (p.Tyr626Ter) c.1470C>G (p.Tyr490Ter) n.3959C>G c.364C>G c.7344C>G (p.Tyr2448Ter) c.7314C>G (p.Tyr2438Ter) c.7251C>G (p.Tyr2417Ter) c.6249C>G (p.Tyr2083Ter) c.697C>G c.7450C>G (n.7450C>G) c.457C>G c.7305C>G (p.Tyr2435Ter) c.7281C>G (p.Tyr2427Ter) c.7341C>G (p.Tyr2447Ter) | ClinVar dbSNP |
| 17 | g.31349244C>T | CA499239134 | NF1 | c.7296C>T (p.Tyr2432=) c.1878C>T (p.Tyr626=) c.1470C>T (p.Tyr490=) n.3959C>T c.364C>T c.7344C>T (p.Tyr2448=) c.7314C>T (p.Tyr2438=) c.7251C>T (p.Tyr2417=) c.6249C>T (p.Tyr2083=) c.697C>T c.7450C>T (n.7450C>T) c.457C>T c.7305C>T (p.Tyr2435=) c.7281C>T (p.Tyr2427=) c.7341C>T (p.Tyr2447=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |