| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31343053G>C | CA399015599 | NF1 | c.7089G>C (p.Trp2363Cys) c.1671G>C (p.Trp557Cys) c.1263G>C (p.Trp421Cys) n.3752G>C c.46G>C c.7137G>C (p.Trp2379Cys) c.7107G>C (p.Trp2369Cys) c.7044G>C (p.Trp2348Cys) c.6042G>C (p.Trp2014Cys) c.490G>C c.7243G>C (n.7243G>C) c.250G>C n.349G>C n.521G>C c.7098G>C (p.Trp2366Cys) c.7074G>C (p.Trp2358Cys) c.7134G>C (p.Trp2378Cys) | dbSNP |
| 17 | g.31343053G>T | CA399015598 | NF1 | c.7089G>T (p.Trp2363Cys) c.1671G>T (p.Trp557Cys) c.1263G>T (p.Trp421Cys) n.3752G>T c.46G>T c.7137G>T (p.Trp2379Cys) c.7107G>T (p.Trp2369Cys) c.7044G>T (p.Trp2348Cys) c.6042G>T (p.Trp2014Cys) c.490G>T c.7243G>T (n.7243G>T) c.250G>T n.349G>T n.521G>T c.7098G>T (p.Trp2366Cys) c.7074G>T (p.Trp2358Cys) c.7134G>T (p.Trp2378Cys) | dbSNP |
| 17 | g.31343053G>A | CA16615319 | NF1 | c.7089G>A (p.Trp2363Ter) c.1671G>A (p.Trp557Ter) c.1263G>A (p.Trp421Ter) n.3752G>A c.46G>A c.7137G>A (p.Trp2379Ter) c.7107G>A (p.Trp2369Ter) c.7044G>A (p.Trp2348Ter) c.6042G>A (p.Trp2014Ter) c.490G>A c.7243G>A (n.7243G>A) c.250G>A n.349G>A n.521G>A c.7098G>A (p.Trp2366Ter) c.7074G>A (p.Trp2358Ter) c.7134G>A (p.Trp2378Ter) | ClinVar dbSNP |
| 17 | g.31343053G= | CA2255605080 | NF1 | c.7089G= (p.Trp2363=) c.1671G= (p.Trp557=) c.1263G= (p.Trp421=) n.3752G= c.46G= c.7137G= (p.Trp2379=) c.7107G= (p.Trp2369=) c.7044G= (p.Trp2348=) c.6042G= (p.Trp2014=) c.490G= c.7243G= (n.7243G=) c.250G= n.349G= n.521G= c.7098G= (p.Trp2366=) c.7074G= (p.Trp2358=) c.7134G= (p.Trp2378=) | dbSNP |