| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31214581T>C | CA251467 | NF1 | c.1568T>C (p.Leu523Pro) c.968T>C (p.Leu323Pro) c.1553T>C (p.Leu518Pro) c.1523T>C (p.Leu508Pro) c.521T>C (p.Leu174Pro) n.1906T>C c.1298T>C c.1625T>C (p.Leu542Pro) c.1514T>C (p.Leu505Pro) | ClinVar dbSNP |
| 17 | g.31214581T>A | CA399001701 | NF1 | c.1568T>A (p.Leu523His) c.968T>A (p.Leu323His) c.1553T>A (p.Leu518His) c.1523T>A (p.Leu508His) c.521T>A (p.Leu174His) n.1906T>A c.1298T>A c.1625T>A (p.Leu542His) c.1514T>A (p.Leu505His) | ClinVar dbSNP |