| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.154588668A>G | CA124342 | ADAR | c.2662T>C (n.2662T>C) c.2798T>C (p.Leu933Pro) c.2651T>C (p.Leu884Pro) c.2420T>C (p.Leu807Pro) c.1883T>C (p.Leu628Pro) c.2768T>C (p.Leu923Pro) c.2690T>C (p.Leu897Pro) n.2753T>C c.*243T>C (n.*243T>C) n.2804T>C c.*1000T>C (n.*1000T>C) n.3221T>C c.1826T>C (p.Leu609Pro) c.*2290T>C (n.*2290T>C) n.2028T>C c.*2368T>C (n.*2368T>C) c.2675T>C (p.Leu892Pro) c.2633T>C (p.Leu878Pro) c.2897T>C (p.Leu966Pro) c.2819T>C (p.Leu940Pro) c.2786T>C (p.Leu929Pro) c.2795T>C (p.Leu932Pro) c.1805T>C (p.Leu602Pro) | ClinVar dbSNP |
| 1 | g.154588668A= | CA1140495923 | ADAR | c.2662T= (n.2662T=) c.2798T= (p.Leu933=) c.2651T= (p.Leu884=) c.2420T= (p.Leu807=) c.1883T= (p.Leu628=) c.2768T= (p.Leu923=) c.2690T= (p.Leu897=) n.2753T= c.*243T= (n.*243T=) n.2804T= c.*1000T= (n.*1000T=) n.3221T= c.1826T= (p.Leu609=) c.*2290T= (n.*2290T=) n.2028T= c.*2368T= (n.*2368T=) c.2675T= (p.Leu892=) c.2633T= (p.Leu878=) c.2897T= (p.Leu966=) c.2819T= (p.Leu940=) c.2786T= (p.Leu929=) c.2795T= (p.Leu932=) c.1805T= (p.Leu602=) | dbSNP |