| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31156001C>T | CA16615539 | NF1 | c.79C>T (p.Gln27Ter) n.462C>T c.-123C>T (n.-123C>T) c.181C>T (p.Gln61Ter) c.40C>T (p.Gln14Ter) | ClinVar dbSNP |
| 17 | g.31156001C= | CA2255538699 | NF1 | c.79C= (p.Gln27=) n.462C= c.-123C= (n.-123C=) c.181C= (p.Gln61=) c.40C= (p.Gln14=) | dbSNP dbSNP |