| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31330385del | CA16615275 | NF1 | c.1887del (n.1887del) c.5681del (p.Ile1894ThrfsTer25) c.263del (p.Ile88ThrfsTer25) c.-146del (n.-146del) n.2344del c.5729del (p.Ile1910ThrfsTer25) c.5699del (p.Ile1900ThrfsTer25) c.5636del (p.Ile1879ThrfsTer25) c.4634del (p.Ile1545ThrfsTer25) c.57del n.4172del c.5835del (n.5835del) n.1016del c.5690del (p.Ile1897ThrfsTer25) c.5666del (p.Ile1889ThrfsTer25) c.5726del (p.Ile1909ThrfsTer25) | ClinVar dbSNP |
| 17 | g.31330385T= | CA2255617539 | NF1 | c.1887T= (n.1887T=) c.5681T= (p.Ile1894=) c.263T= (p.Ile88=) c.-146T= (n.-146T=) n.2344T= c.5729T= (p.Ile1910=) c.5699T= (p.Ile1900=) c.5636T= (p.Ile1879=) c.4634T= (p.Ile1545=) c.57T= n.4172T= c.5835T= (n.5835T=) n.1016T= c.5690T= (p.Ile1897=) c.5666T= (p.Ile1889=) c.5726T= (p.Ile1909=) | dbSNP dbSNP |