| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.57654036del | CA16043018 | ADGRG1 | c.671del (p.Asp224AlafsTer?) n.706del c.686del (p.Asp229AlafsTer?) c.*334del (n.*334del) c.156del n.594del c.161del (p.Asp54AlafsTer?) c.146del (p.Asp49AlafsTer?) c.515del (p.Asp172AlafsTer?) | ClinVar dbSNP gnomAD v4 |
| 16 | g.57654036A= | CA3217832078 | ADGRG1 | c.671A= (p.Asp224=) n.706A= c.686A= (p.Asp229=) c.*334A= (n.*334A=) c.156A= n.594A= c.161A= (p.Asp54=) c.146A= (p.Asp49=) c.515A= (p.Asp172=) | dbSNP |