| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31249093C>G | CA398995050 | NF1 | c.4129C>G (p.Arg1377Gly) c.1547C>G (n.1547C>G) n.190C>G n.792C>G c.4114C>G (p.Arg1372Gly) c.4084C>G (p.Arg1362Gly) c.3082C>G (p.Arg1028Gly) c.560C>G n.2620C>G c.3859C>G c.4186C>G (p.Arg1396Gly) c.4075C>G (p.Arg1359Gly) c.4111C>G (p.Arg1371Gly) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.31249093C>T | CA325494 | NF1 | c.4129C>T (p.Arg1377Ter) c.1547C>T (n.1547C>T) n.190C>T n.792C>T c.4114C>T (p.Arg1372Ter) c.4084C>T (p.Arg1362Ter) c.3082C>T (p.Arg1028Ter) c.560C>T n.2620C>T c.3859C>T c.4186C>T (p.Arg1396Ter) c.4075C>T (p.Arg1359Ter) c.4111C>T (p.Arg1371Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |