| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31235623C>T | CA165261 | NF1 | c.3766C>T (p.Arg1256Ter) c.1066C>T (p.Arg356Ter) n.429C>T c.3751C>T (p.Arg1251Ter) c.3721C>T (p.Arg1241Ter) c.2719C>T (p.Arg907Ter) c.197C>T n.2257C>T c.3496C>T c.3823C>T (p.Arg1275Ter) c.3712C>T (p.Arg1238Ter) c.3748C>T (p.Arg1250Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.31235623C>A | CA499232459 | NF1 | c.3766C>A (p.Arg1256=) c.1066C>A (p.Arg356=) n.429C>A c.3751C>A (p.Arg1251=) c.3721C>A (p.Arg1241=) c.2719C>A (p.Arg907=) c.197C>A n.2257C>A c.3496C>A c.3823C>A (p.Arg1275=) c.3712C>A (p.Arg1238=) c.3748C>A (p.Arg1250=) | dbSNP gnomAD v4 |
| 17 | g.31235623C>G | CA398992322 | NF1 | c.3766C>G (p.Arg1256Gly) c.1066C>G (p.Arg356Gly) n.429C>G c.3751C>G (p.Arg1251Gly) c.3721C>G (p.Arg1241Gly) c.2719C>G (p.Arg907Gly) c.197C>G n.2257C>G c.3496C>G c.3823C>G (p.Arg1275Gly) c.3712C>G (p.Arg1238Gly) c.3748C>G (p.Arg1250Gly) | ClinVar dbSNP |