Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.31336750T>A | CA399012160 | NF1 | c.6245T>A (p.Leu2082Gln) c.827T>A (p.Leu276Gln) n.688T>A c.419T>A (p.Leu140Gln) n.2908T>A c.6293T>A (p.Leu2098Gln) c.6263T>A (p.Leu2088Gln) c.6200T>A (p.Leu2067Gln) c.5198T>A (p.Leu1733Gln) c.688T>A c.6399T>A (n.6399T>A) c.6254T>A (p.Leu2085Gln) c.6230T>A (p.Leu2077Gln) c.6290T>A (p.Leu2097Gln) | dbSNP |
17 | g.31336750T>C | CA212547 | NF1 | c.6245T>C (p.Leu2082Pro) c.827T>C (p.Leu276Pro) n.688T>C c.419T>C (p.Leu140Pro) n.2908T>C c.6293T>C (p.Leu2098Pro) c.6263T>C (p.Leu2088Pro) c.6200T>C (p.Leu2067Pro) c.5198T>C (p.Leu1733Pro) c.688T>C c.6399T>C (n.6399T>C) c.6254T>C (p.Leu2085Pro) c.6230T>C (p.Leu2077Pro) c.6290T>C (p.Leu2097Pro) | ClinVar dbSNP |