Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.31227549G>C | CA219461 | NF1 | c.2397G>C (p.Trp799Cys) c.2382G>C (p.Trp794Cys) c.2352G>C (p.Trp784Cys) c.1350G>C (p.Trp450Cys) n.519G>C c.2127G>C c.2454G>C (p.Trp818Cys) c.2343G>C (p.Trp781Cys) c.2379G>C (p.Trp793Cys) | ClinVar dbSNP COSMIC COSMIC |
17 | g.31227549G>A | CA10583483 | NF1 | c.2397G>A (p.Trp799Ter) c.2382G>A (p.Trp794Ter) c.2352G>A (p.Trp784Ter) c.1350G>A (p.Trp450Ter) n.519G>A c.2127G>A c.2454G>A (p.Trp818Ter) c.2343G>A (p.Trp781Ter) c.2379G>A (p.Trp793Ter) | ClinVar dbSNP gnomAD v4 |
17 | g.31227549G>T | CA398983105 | NF1 | c.2397G>T (p.Trp799Cys) c.2382G>T (p.Trp794Cys) c.2352G>T (p.Trp784Cys) c.1350G>T (p.Trp450Cys) n.519G>T c.2127G>T c.2454G>T (p.Trp818Cys) c.2343G>T (p.Trp781Cys) c.2379G>T (p.Trp793Cys) | ClinVar dbSNP |