| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31229160G>C | CA398984246 | NF1 | c.2590G>C (p.Gly864Arg) c.2575G>C (p.Gly859Arg) c.2545G>C (p.Gly849Arg) c.1543G>C (p.Gly515Arg) n.712G>C c.2320G>C c.2647G>C (p.Gly883Arg) c.2536G>C (p.Gly846Arg) c.2572G>C (p.Gly858Arg) | dbSNP |
| 17 | g.31229160G>T | CA16620361 | NF1 | c.2590G>T (p.Gly864Ter) c.2575G>T (p.Gly859Ter) c.2545G>T (p.Gly849Ter) c.1543G>T (p.Gly515Ter) n.712G>T c.2320G>T c.2647G>T (p.Gly883Ter) c.2536G>T (p.Gly846Ter) c.2572G>T (p.Gly858Ter) | ClinVar dbSNP |
| 17 | g.31229160G>A | CA398984245 | NF1 | c.2590G>A (p.Gly864Arg) c.2575G>A (p.Gly859Arg) c.2545G>A (p.Gly849Arg) c.1543G>A (p.Gly515Arg) n.712G>A c.2320G>A c.2647G>A (p.Gly883Arg) c.2536G>A (p.Gly846Arg) c.2572G>A (p.Gly858Arg) | dbSNP |