| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31155990del | CA16043520 | NF1 | c.68del (p.Ile23LysfsTer21) n.451del c.-134del (n.-134del) c.170del (p.Ile57LysfsTer21) c.29del (p.Ile10LysfsTer21) | ClinVar dbSNP |
| 17 | g.31155990T= | CA3223488278 | NF1 | c.68T= (p.Ile23=) n.451T= c.-134T= (n.-134T=) c.170T= (p.Ile57=) c.29T= (p.Ile10=) | dbSNP dbSNP |