| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31334933_31334934insTA | CA16615287 | NF1 | c.2096_2097insTA (n.2096_2097insTA) c.5890_5891insTA (p.Arg1964IlefsTer10) c.472_473insTA (p.Arg158IlefsTer10) c.64_65insTA (p.Arg22IlefsTer10) n.2553_2554insTA c.5938_5939insTA (p.Arg1980IlefsTer10) c.5908_5909insTA (p.Arg1970IlefsTer10) c.5845_5846insTA (p.Arg1949IlefsTer10) c.4843_4844insTA (p.Arg1615IlefsTer10) c.333_334insTA c.6044_6045insTA (n.6044_6045insTA) n.1225_1226insTA c.5899_5900insTA (p.Arg1967IlefsTer10) c.5875_5876insTA (p.Arg1959IlefsTer10) c.5935_5936insTA (p.Arg1979IlefsTer10) | ClinVar dbSNP |
| 17 | g.31334933A= | CA2255619610 | NF1 | c.2096A= (n.2096A=) c.5890A= (p.Arg1964=) c.472A= (p.Arg158=) c.64A= (p.Arg22=) n.2553A= c.5938A= (p.Arg1980=) c.5908A= (p.Arg1970=) c.5845A= (p.Arg1949=) c.4843A= (p.Arg1615=) c.333A= c.6044A= (n.6044A=) n.1225A= c.5899A= (p.Arg1967=) c.5875A= (p.Arg1959=) c.5935A= (p.Arg1979=) | dbSNP dbSNP |