| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31232140G>A | CA289337588 | NF1 | c.3310G>A (p.Glu1104Lys) c.610G>A (p.Glu204Lys) c.3295G>A (p.Glu1099Lys) c.3265G>A (p.Glu1089Lys) c.2263G>A (p.Glu755Lys) n.1801G>A c.3040G>A c.3367G>A (p.Glu1123Lys) c.3256G>A (p.Glu1086Lys) c.3292G>A (p.Glu1098Lys) | ClinVar dbSNP |
| 17 | g.31232140G>C | CA398988829 | NF1 | c.3310G>C (p.Glu1104Gln) c.610G>C (p.Glu204Gln) c.3295G>C (p.Glu1099Gln) c.3265G>C (p.Glu1089Gln) c.2263G>C (p.Glu755Gln) n.1801G>C c.3040G>C c.3367G>C (p.Glu1123Gln) c.3256G>C (p.Glu1086Gln) c.3292G>C (p.Glu1098Gln) | dbSNP |
| 17 | g.31232140G= | CA2255569050 | NF1 | c.3310G= (p.Glu1104=) c.610G= (p.Glu204=) c.3295G= (p.Glu1099=) c.3265G= (p.Glu1089=) c.2263G= (p.Glu755=) n.1801G= c.3040G= c.3367G= (p.Glu1123=) c.3256G= (p.Glu1086=) c.3292G= (p.Glu1098=) | dbSNP |