| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31156021del | CA16615134 | NF1 | c.99del (p.Val34SerfsTer10) n.482del c.-103del (n.-103del) c.201del (p.Val68SerfsTer10) c.60del (p.Val21SerfsTer10) | ClinVar dbSNP |
| 17 | g.31156020_31156021del | CA2695225203 | NF1 | c.98_99del (p.Lys33SerfsTer4) n.481_482del c.-104_-103del (n.-104_-103del) c.200_201del (p.Lys67SerfsTer4) c.59_60del (p.Lys20SerfsTer4) | ClinVar dbSNP |