| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90759569T>G | CA10576668 | ADGRV1 | c.12101T>G (p.Phe4034Cys) c.1055T>G (p.Phe352Cys) c.265+83360T>G (n.265+83360T>G) n.755T>G n.5068T>G n.2520T>G c.4798T>G n.12114T>G c.12098T>G (p.Phe4033Cys) c.12020T>G (p.Phe4007Cys) c.9404T>G (p.Phe3135Cys) c.12122T>G (p.Phe4041Cys) c.12119T>G (p.Phe4040Cys) c.12041T>G (p.Phe4014Cys) c.12026T>G (p.Phe4009Cys) c.5240T>G (p.Phe1747Cys) c.5219T>G (p.Phe1740Cys) n.12117T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.90759569T= | CA1562888123 | ADGRV1 | c.12101T= (p.Phe4034=) c.1055T= (p.Phe352=) c.265+83360T= (n.265+83360T=) n.755T= n.5068T= n.2520T= c.4798T= n.12114T= c.12098T= (p.Phe4033=) c.12020T= (p.Phe4007=) c.9404T= (p.Phe3135=) c.12122T= (p.Phe4041=) c.12119T= (p.Phe4040=) c.12041T= (p.Phe4014=) c.12026T= (p.Phe4009=) c.5240T= (p.Phe1747=) c.5219T= (p.Phe1740=) n.12117T= | dbSNP |