| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31235614G>C | CA398992279 | NF1 | c.3757G>C (p.Glu1253Gln) c.1057G>C (p.Glu353Gln) n.420G>C c.3742G>C (p.Glu1248Gln) c.3712G>C (p.Glu1238Gln) c.2710G>C (p.Glu904Gln) c.188G>C n.2248G>C c.3487G>C c.3814G>C (p.Glu1272Gln) c.3703G>C (p.Glu1235Gln) c.3739G>C (p.Glu1247Gln) | ClinVar dbSNP |
| 17 | g.31235614G>T | CA16615636 | NF1 | c.3757G>T (p.Glu1253Ter) c.1057G>T (p.Glu353Ter) n.420G>T c.3742G>T (p.Glu1248Ter) c.3712G>T (p.Glu1238Ter) c.2710G>T (p.Glu904Ter) c.188G>T n.2248G>T c.3487G>T c.3814G>T (p.Glu1272Ter) c.3703G>T (p.Glu1235Ter) c.3739G>T (p.Glu1247Ter) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.31235614G= | CA2255572829 | NF1 | c.3757G= (p.Glu1253=) c.1057G= (p.Glu353=) n.420G= c.3742G= (p.Glu1248=) c.3712G= (p.Glu1238=) c.2710G= (p.Glu904=) c.188G= n.2248G= c.3487G= c.3814G= (p.Glu1272=) c.3703G= (p.Glu1235=) c.3739G= (p.Glu1247=) | dbSNP dbSNP |
| 17 | g.31235614G>A | CA398992278 | NF1 | c.3757G>A (p.Glu1253Lys) c.1057G>A (p.Glu353Lys) n.420G>A c.3742G>A (p.Glu1248Lys) c.3712G>A (p.Glu1238Lys) c.2710G>A (p.Glu904Lys) c.188G>A n.2248G>A c.3487G>A c.3814G>A (p.Glu1272Lys) c.3703G>A (p.Glu1235Lys) c.3739G>A (p.Glu1247Lys) | ClinVar dbSNP |