| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31350234del | CA16615329 | NF1 | c.7355del (p.Arg2452LysfsTer?) c.1937del (p.Arg646LysfsTer?) c.1529del (p.Arg510LysfsTer?) n.4018del c.423del c.7403del (p.Arg2468LysfsTer?) c.7373del (p.Arg2458LysfsTer?) c.7310del (p.Arg2437LysfsTer?) c.6308del (p.Arg2103LysfsTer?) c.756del c.7509del (n.7509del) c.516del c.7364del (p.Arg2455LysfsTer?) c.7340del (p.Arg2447LysfsTer?) c.7400del (p.Arg2467LysfsTer?) | ClinVar dbSNP |
| 17 | g.31350234G= | CA2255608179 | NF1 | c.7355G= (p.Arg2452=) c.1937G= (p.Arg646=) c.1529G= (p.Arg510=) n.4018G= c.423G= c.7403G= (p.Arg2468=) c.7373G= (p.Arg2458=) c.7310G= (p.Arg2437=) c.6308G= (p.Arg2103=) c.756G= c.7509G= (n.7509G=) c.516G= c.7364G= (p.Arg2455=) c.7340G= (p.Arg2447=) c.7400G= (p.Arg2467=) | dbSNP dbSNP |