| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6974427A>G | CA114613 | EMG1 | c.257A>G (p.Asp86Gly) c.239A>G (p.Asp80Gly) c.120A>G c.260A>G (p.Asp87Gly) n.268A>G n.246A>G n.400A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6974427A= | CA2014342576 | EMG1 | c.257A= (p.Asp86=) c.239A= (p.Asp80=) c.120A= c.260A= (p.Asp87=) n.268A= n.246A= n.400A= | dbSNP |