| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.154584993A>G | CA124351 | ADAR | c.3388T>C (n.3388T>C) c.3524T>C (p.Phe1175Ser) c.3377T>C (p.Phe1126Ser) c.3146T>C (p.Phe1049Ser) c.2609T>C (p.Phe870Ser) c.3494T>C (p.Phe1165Ser) n.2287T>C c.3416T>C (p.Phe1139Ser) n.3479T>C c.*969T>C (n.*969T>C) n.4230T>C c.*660T>C (n.*660T>C) c.*1726T>C (n.*1726T>C) n.4355T>C c.2552T>C (p.Phe851Ser) c.3311T>C (p.Phe1104Ser) c.*3016T>C (n.*3016T>C) n.3162T>C c.*3094T>C (n.*3094T>C) n.253T>C c.3401T>C (p.Phe1134Ser) c.3359T>C (p.Phe1120Ser) c.3623T>C (p.Phe1208Ser) c.3545T>C (p.Phe1182Ser) c.3512T>C (p.Phe1171Ser) c.3521T>C (p.Phe1174Ser) c.2531T>C (p.Phe844Ser) | ClinVar dbSNP gnomAD v2 |
| 1 | g.154584993A= | CA1140495917 | ADAR | c.3388T= (n.3388T=) c.3524T= (p.Phe1175=) c.3377T= (p.Phe1126=) c.3146T= (p.Phe1049=) c.2609T= (p.Phe870=) c.3494T= (p.Phe1165=) n.2287T= c.3416T= (p.Phe1139=) n.3479T= c.*969T= (n.*969T=) n.4230T= c.*660T= (n.*660T=) c.*1726T= (n.*1726T=) n.4355T= c.2552T= (p.Phe851=) c.3311T= (p.Phe1104=) c.*3016T= (n.*3016T=) n.3162T= c.*3094T= (n.*3094T=) n.253T= c.3401T= (p.Phe1134=) c.3359T= (p.Phe1120=) c.3623T= (p.Phe1208=) c.3545T= (p.Phe1182=) c.3512T= (p.Phe1171=) c.3521T= (p.Phe1174=) c.2531T= (p.Phe844=) | dbSNP |