| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.15239514dup | CA277605 | PMP22 | c.281dup (p.Arg95GlnfsTer?) c.281dup (p.Arg95GlnfsTer13) c.270dup (p.Gln91AlafsTer17) c.281dup (p.Arg95GlnfsTer14) c.77dup (p.Arg27GlnfsTer?) c.281dup (p.Arg95GlnfsTer19) n.297dup n.261dup c.179-8429dup (n.179-8429dup) c.383dup (p.Arg129GlnfsTer?) c.102dup (p.Gln35AlafsTer17) n.407dup n.307dup n.376dup n.276dup | ClinVar dbSNP |
| 17 | g.15239514del | CA259755 | PMP22 | c.281del (p.Gly94AlafsTer17) c.281del (p.Gly94AlafsTer?) c.270del (p.Gln91ArgfsTer?) c.281del (p.Gly94AlafsTer19) c.77del (p.Gly26AlafsTer17) c.281del (p.Gly94AlafsTer18) n.297del n.261del c.281del (p.Gly94AlafsTer20) c.179-8429del (n.179-8429del) c.383del (p.Gly128AlafsTer17) c.102del (p.Gln35ArgfsTer?) n.407del n.307del n.376del n.276del | ClinVar dbSNP |