| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31334864G>C | CA399010610 | NF1 | c.2027G>C (n.2027G>C) c.5821G>C (p.Glu1941Gln) c.403G>C (p.Glu135Gln) c.-6G>C (n.-6G>C) n.2484G>C c.5869G>C (p.Glu1957Gln) c.5839G>C (p.Glu1947Gln) c.5776G>C (p.Glu1926Gln) c.4774G>C (p.Glu1592Gln) c.264G>C c.5975G>C (n.5975G>C) n.1156G>C c.5830G>C (p.Glu1944Gln) c.5806G>C (p.Glu1936Gln) c.5866G>C (p.Glu1956Gln) | dbSNP |
| 17 | g.31334864G>A | CA399010609 | NF1 | c.2027G>A (n.2027G>A) c.5821G>A (p.Glu1941Lys) c.403G>A (p.Glu135Lys) c.-6G>A (n.-6G>A) n.2484G>A c.5869G>A (p.Glu1957Lys) c.5839G>A (p.Glu1947Lys) c.5776G>A (p.Glu1926Lys) c.4774G>A (p.Glu1592Lys) c.264G>A c.5975G>A (n.5975G>A) n.1156G>A c.5830G>A (p.Glu1944Lys) c.5806G>A (p.Glu1936Lys) c.5866G>A (p.Glu1956Lys) | dbSNP |
| 17 | g.31334864G>T | CA166718 | NF1 | c.2027G>T (n.2027G>T) c.5821G>T (p.Glu1941Ter) c.403G>T (p.Glu135Ter) c.-6G>T (n.-6G>T) n.2484G>T c.5869G>T (p.Glu1957Ter) c.5839G>T (p.Glu1947Ter) c.5776G>T (p.Glu1926Ter) c.4774G>T (p.Glu1592Ter) c.264G>T c.5975G>T (n.5975G>T) n.1156G>T c.5830G>T (p.Glu1944Ter) c.5806G>T (p.Glu1936Ter) c.5866G>T (p.Glu1956Ter) | ClinVar dbSNP COSMIC COSMIC |