| 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 |
| 17 | g.31338138A= | CA2255602881 | NF1 | c.6800A= (p.Lys2267=) c.1382A= (p.Lys461=) n.2076A= c.974A= (p.Lys325=) n.3463A= c.6848A= (p.Lys2283=) c.6818A= (p.Lys2273=) c.6755A= (p.Lys2252=) c.5753A= (p.Lys1918=) c.201A= c.6954A= (n.6954A=) c.64+258A= n.232A= c.6809A= (p.Lys2270=) c.6785A= (p.Lys2262=) c.6845A= (p.Lys2282=) | dbSNP |
| 17 | g.31338138A>C | CA399014222 | NF1 | c.6800A>C (p.Lys2267Thr) c.1382A>C (p.Lys461Thr) n.2076A>C c.974A>C (p.Lys325Thr) n.3463A>C c.6848A>C (p.Lys2283Thr) c.6818A>C (p.Lys2273Thr) c.6755A>C (p.Lys2252Thr) c.5753A>C (p.Lys1918Thr) c.201A>C c.6954A>C (n.6954A>C) c.64+258A>C n.232A>C c.6809A>C (p.Lys2270Thr) c.6785A>C (p.Lys2262Thr) c.6845A>C (p.Lys2282Thr) | ClinVar dbSNP COSMIC COSMIC COSMIC |