Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.31221922del | CA10580230 | NF1 | c.1759del (p.Glu587ArgfsTer14) c.1159del (p.Glu387ArgfsTer10) c.1744del (p.Glu582ArgfsTer14) c.1714del (p.Glu572ArgfsTer14) c.1714del (p.Glu572ArgfsTer10) c.712del (p.Glu238ArgfsTer14) c.1489del c.1816del (p.Glu606ArgfsTer14) c.1705del (p.Glu569ArgfsTer14) | ClinVar dbSNP gnomAD v4 |
17 | g.31221922dup | CA2499224006 | NF1 | c.1759dup (p.Glu587GlyfsTer3) c.1159dup (p.Glu387GlyfsTer3) c.1744dup (p.Glu582GlyfsTer3) c.1714dup (p.Glu572GlyfsTer3) c.712dup (p.Glu238GlyfsTer3) c.1489dup c.1816dup (p.Glu606GlyfsTer3) c.1705dup (p.Glu569GlyfsTer3) | ClinVar dbSNP |