Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.31338138A>G | CA399014223 | NF1 | c.6800A>G (p.Lys2267Arg) c.1382A>G (p.Lys461Arg) n.2076A>G c.974A>G (p.Lys325Arg) n.3463A>G c.6848A>G (p.Lys2283Arg) c.6818A>G (p.Lys2273Arg) c.6755A>G (p.Lys2252Arg) c.5753A>G (p.Lys1918Arg) c.201A>G c.6954A>G (n.6954A>G) c.64+258A>G n.232A>G c.6809A>G (p.Lys2270Arg) c.6785A>G (p.Lys2262Arg) c.6845A>G (p.Lys2282Arg) | ClinVar dbSNP |
17 | g.31338138A>T | CA16615576 | NF1 | c.6800A>T (p.Lys2267Met) c.1382A>T (p.Lys461Met) n.2076A>T c.974A>T (p.Lys325Met) n.3463A>T c.6848A>T (p.Lys2283Met) c.6818A>T (p.Lys2273Met) c.6755A>T (p.Lys2252Met) c.5753A>T (p.Lys1918Met) c.201A>T c.6954A>T (n.6954A>T) c.64+258A>T n.232A>T c.6809A>T (p.Lys2270Met) c.6785A>T (p.Lys2262Met) c.6845A>T (p.Lys2282Met) | ClinVar dbSNP |