| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63695093A>C | CA199731 | RTEL1,RTEL1-TNFRSF6B | n.2118A>C c.3443A>C (p.His1148Pro) c.2702A>C (p.His901Pro) c.3371A>C (p.His1124Pro) n.3382A>C c.1106A>C (p.His369Pro) n.3456A>C c.*973A>C (n.*973A>C) n.2853A>C c.1303A>C (n.1303A>C) n.4198A>C | ClinVar dbSNP |
| 20 | g.63695093A= | CA2374935499 | RTEL1,RTEL1-TNFRSF6B | n.2118A= c.3443A= (p.His1148=) c.2702A= (p.His901=) c.3371A= (p.His1124=) n.3382A= c.1106A= (p.His369=) n.3456A= c.*973A= (n.*973A=) n.2853A= c.1303A= (n.1303A=) n.4198A= | dbSNP |