| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31223448C>T | CA16615167 | NF1 | c.1771C>T (p.Gln591Ter) c.1756C>T (p.Gln586Ter) c.1726C>T (p.Gln576Ter) c.724C>T (p.Gln242Ter) c.1501C>T c.1828C>T (p.Gln610Ter) c.1717C>T (p.Gln573Ter) | ClinVar dbSNP |
| 17 | g.31223448C= | CA2255560243 | NF1 | c.1771C= (p.Gln591=) c.1756C= (p.Gln586=) c.1726C= (p.Gln576=) c.724C= (p.Gln242=) c.1501C= c.1828C= (p.Gln610=) c.1717C= (p.Gln573=) | dbSNP |