| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87949911dup | CA658824345 | GALC | c.1273dup (p.Val425GlyfsTer16) c.1204dup (p.Val402GlyfsTer16) c.1195dup (p.Val399GlyfsTer16) c.1105dup (p.Val369GlyfsTer16) c.640dup (p.Val214GlyfsTer16) c.*671dup (n.*671dup) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87949911del | CA16041695 | GALC | c.1273del (p.Val425TyrfsTer?) c.1204del (p.Val402TyrfsTer?) c.1195del (p.Val399TyrfsTer?) c.1105del (p.Val369TyrfsTer?) c.640del (p.Val214TyrfsTer?) c.*671del (n.*671del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |