Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.31227526T>A | CA10580250 | NF1 | c.2374T>A (p.Trp792Arg) c.2359T>A (p.Trp787Arg) c.2329T>A (p.Trp777Arg) c.1327T>A (p.Trp443Arg) n.496T>A c.2104T>A c.2431T>A (p.Trp811Arg) c.2320T>A (p.Trp774Arg) c.2356T>A (p.Trp786Arg) | ClinVar dbSNP |
17 | g.31227526T>C | CA398983008 | NF1 | c.2374T>C (p.Trp792Arg) c.2359T>C (p.Trp787Arg) c.2329T>C (p.Trp777Arg) c.1327T>C (p.Trp443Arg) n.496T>C c.2104T>C c.2431T>C (p.Trp811Arg) c.2320T>C (p.Trp774Arg) c.2356T>C (p.Trp786Arg) | ClinVar dbSNP |
17 | g.31227526T>G | CA398983006 | NF1 | c.2374T>G (p.Trp792Gly) c.2359T>G (p.Trp787Gly) c.2329T>G (p.Trp777Gly) c.1327T>G (p.Trp443Gly) n.496T>G c.2104T>G c.2431T>G (p.Trp811Gly) c.2320T>G (p.Trp774Gly) c.2356T>G (p.Trp786Gly) | ClinVar dbSNP |