| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.49861819_49861820insGTCGATGGCGACCCGTT | CA249946 | PNKP | c.1251_1252insACGGGTCGCCATCGACA (p.Arg418ThrfsTer?) n.847_848insACGGGTCGCCATCGACA c.*1178_*1179insACGGGTCGCCATCGACA (n.*1178_*1179insACGGGTCGCCATCGACA) n.1752_1753insACGGGTCGCCATCGACA n.78_79insACGGGTCGCCATCGACA n.95_96insACGGGTCGCCATCGACA c.1158_1159insACGGGTCGCCATCGACA (p.Arg387ThrfsTer?) c.1189-124_1189-123insACGGGTCGCCATCGACA (n.1189-124_1189-123insACGGGTCGCCATCGACA) n.150_151insACGGGTCGCCATCGACA c.332_333insACGGGTCGCCATCGACA (n.332_333insACGGGTCGCCATCGACA) c.1171_1172insACGGGTCGCCATCGACA (n.1171_1172insACGGGTCGCCATCGACA) c.1143_1144insACGGGTCGCCATCGACA (p.Arg382ThrfsTer?) | ClinVar dbSNP |
| 19 | g.49861819T= | CA3233714367 | PNKP | c.1251A= (p.Lys417=) n.847A= c.*1178A= (n.*1178A=) n.1752A= n.78A= n.95A= c.1158A= (p.Lys386=) c.1189-124A= (n.1189-124A=) n.150A= c.332A= (n.332A=) c.1171A= (n.1171A=) c.1143A= (p.Lys381=) | dbSNP dbSNP |