| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31330336T>G | CA399010172 | NF1 | c.1838T>G (n.1838T>G) c.5632T>G (p.Phe1878Val) c.214T>G (p.Phe72Val) c.-195T>G (n.-195T>G) n.2295T>G c.5680T>G (p.Phe1894Val) c.5650T>G (p.Phe1884Val) c.5587T>G (p.Phe1863Val) c.4585T>G (p.Phe1529Val) c.8T>G n.4123T>G c.5786T>G (n.5786T>G) n.967T>G c.5641T>G (p.Phe1881Val) c.5617T>G (p.Phe1873Val) c.5677T>G (p.Phe1893Val) | ClinVar dbSNP |
| 17 | g.31330336T>A | CA399010173 | NF1 | c.1838T>A (n.1838T>A) c.5632T>A (p.Phe1878Ile) c.214T>A (p.Phe72Ile) c.-195T>A (n.-195T>A) n.2295T>A c.5680T>A (p.Phe1894Ile) c.5650T>A (p.Phe1884Ile) c.5587T>A (p.Phe1863Ile) c.4585T>A (p.Phe1529Ile) c.8T>A n.4123T>A c.5786T>A (n.5786T>A) n.967T>A c.5641T>A (p.Phe1881Ile) c.5617T>A (p.Phe1873Ile) c.5677T>A (p.Phe1893Ile) | dbSNP |
| 17 | g.31330336T>C | CA16615653 | NF1 | c.1838T>C (n.1838T>C) c.5632T>C (p.Phe1878Leu) c.214T>C (p.Phe72Leu) c.-195T>C (n.-195T>C) n.2295T>C c.5680T>C (p.Phe1894Leu) c.5650T>C (p.Phe1884Leu) c.5587T>C (p.Phe1863Leu) c.4585T>C (p.Phe1529Leu) c.8T>C n.4123T>C c.5786T>C (n.5786T>C) n.967T>C c.5641T>C (p.Phe1881Leu) c.5617T>C (p.Phe1873Leu) c.5677T>C (p.Phe1893Leu) | ClinVar dbSNP |