| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101771015dup | CA343417 | GNPTAB | c.914dup (p.Asp305GlufsTer9) c.833dup (p.Asp278GlufsTer9) c.698dup (p.Asp233GlufsTer9) c.-437dup (n.-437dup) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101771015T= | CA3191744494 | GNPTAB | c.914A= (p.Asp305=) c.833A= (p.Asp278=) c.698A= (p.Asp233=) c.-437A= (n.-437A=) | dbSNP |