| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31337875del | CA16615307 | NF1 | c.6681del (p.Gln2228LysfsTer?) c.1263del (p.Gln422LysfsTer?) n.1813del c.855del (p.Gln286LysfsTer?) n.3344del c.6729del (p.Gln2244LysfsTer?) c.6699del (p.Gln2234LysfsTer?) c.6636del (p.Gln2213LysfsTer?) c.5634del (p.Gln1879LysfsTer?) c.59del c.6835del (n.6835del) n.113del c.6690del (p.Gln2231LysfsTer?) c.6666del (p.Gln2223LysfsTer?) c.6726del (p.Gln2243LysfsTer?) | ClinVar dbSNP |
| 17 | g.31337875T= | CA3223488228 | NF1 | c.6681T= (p.Ala2227=) c.1263T= (p.Ala421=) n.1813T= c.855T= (p.Ala285=) n.3344T= c.6729T= (p.Ala2243=) c.6699T= (p.Ala2233=) c.6636T= (p.Ala2212=) c.5634T= (p.Ala1878=) c.59T= c.6835T= (n.6835T=) n.113T= c.6690T= (p.Ala2230=) c.6666T= (p.Ala2222=) c.6726T= (p.Ala2242=) | dbSNP dbSNP |