| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.78709310A>G | CA16044234 | NRXN3 | c.1315A>G (p.Lys439Glu) c.1327A>G (p.Lys443Glu) c.558A>G c.598A>G (p.Lys200Glu) c.28A>G (p.Lys10Glu) c.196A>G (p.Lys66Glu) c.1309A>G (p.Lys437Glu) n.659A>G n.558A>G n.2314A>G c.1351A>G (p.Lys451Glu) c.1339A>G (p.Lys447Glu) c.259A>G (p.Lys87Glu) n.2356A>G n.154+506T>C n.2332A>G n.2320A>G c.1291A>G (p.Lys431Glu) n.684T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.78709310A= | CA2148981244 | NRXN3 | c.1315A= (p.Lys439=) c.1327A= (p.Lys443=) c.558A= c.598A= (p.Lys200=) c.28A= (p.Lys10=) c.196A= (p.Lys66=) c.1309A= (p.Lys437=) n.659A= n.558A= n.2314A= c.1351A= (p.Lys451=) c.1339A= (p.Lys447=) c.259A= (p.Lys87=) n.2356A= n.154+506T= n.2332A= n.2320A= c.1291A= (p.Lys431=) n.684T= | dbSNP |