| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31229152C>G | CA398984228 | NF1 | c.2582C>G (p.Ala861Gly) c.2567C>G (p.Ala856Gly) c.2537C>G (p.Ala846Gly) c.1535C>G (p.Ala512Gly) n.704C>G c.2312C>G c.2639C>G (p.Ala880Gly) c.2528C>G (p.Ala843Gly) c.2564C>G (p.Ala855Gly) | dbSNP |
| 17 | g.31229152C>A | CA398984227 | NF1 | c.2582C>A (p.Ala861Asp) c.2567C>A (p.Ala856Asp) c.2537C>A (p.Ala846Asp) c.1535C>A (p.Ala512Asp) n.704C>A c.2312C>A c.2639C>A (p.Ala880Asp) c.2528C>A (p.Ala843Asp) c.2564C>A (p.Ala855Asp) | ClinVar dbSNP |
| 17 | g.31229152C>T | CA398984229 | NF1 | c.2582C>T (p.Ala861Val) c.2567C>T (p.Ala856Val) c.2537C>T (p.Ala846Val) c.1535C>T (p.Ala512Val) n.704C>T c.2312C>T c.2639C>T (p.Ala880Val) c.2528C>T (p.Ala843Val) c.2564C>T (p.Ala855Val) | dbSNP |