| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31223460dup | CA334783 | NF1 | c.1783dup (p.Tyr595LeufsTer8) c.1768dup (p.Tyr590LeufsTer8) c.1738dup (p.Tyr580LeufsTer8) c.736dup (p.Tyr246LeufsTer8) c.1513dup c.1840dup (p.Tyr614LeufsTer8) c.1729dup (p.Tyr577LeufsTer8) | ClinVar dbSNP COSMIC |
| 17 | g.31223460del | CA2255560247 | NF1 | c.1783del (p.Tyr595ThrfsTer6) c.1768del (p.Tyr590ThrfsTer6) c.1738del (p.Tyr580ThrfsTer6) c.736del (p.Tyr246ThrfsTer6) c.1513del c.1840del (p.Tyr614ThrfsTer6) c.1729del (p.Tyr577ThrfsTer6) | ClinVar dbSNP |