| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.1352123C>G | CA394184063 | GNPTG | n.94C>G c.158C>G (p.Ala53Gly) n.53C>G c.74C>G (p.Ala25Gly) n.86C>G c.141C>G n.92C>G | ClinVar dbSNP gnomAD v4 |
| 16 | g.1352123C>A | CA284845 | GNPTG | n.94C>A c.158C>A (p.Ala53Glu) n.53C>A c.74C>A (p.Ala25Glu) n.86C>A c.141C>A n.92C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1352123C= | CA2201592190 | GNPTG | n.94C= c.158C= (p.Ala53=) n.53C= c.74C= (p.Ala25=) n.86C= c.141C= n.92C= | dbSNP |