| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.102596306C>T | CA3026158 | NFKB1 | c.1493C>T (p.Thr498Ile) c.1469C>T (p.Thr490Ile) c.*1110C>T (n.*1110C>T) n.966C>T n.11C>T c.1445C>T c.1490C>T (p.Thr497Ile) c.1466C>T (p.Thr489Ile) n.579C>T c.926C>T (p.Thr309Ile) c.1310C>T (p.Thr437Ile) c.1073C>T (p.Thr358Ile) c.1334C>T (p.Thr445Ile) c.1427C>T (p.Thr476Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.102596306C= | CA1481446823 | NFKB1 | c.1493C= (p.Thr498=) c.1469C= (p.Thr490=) c.*1110C= (n.*1110C=) n.966C= n.11C= c.1445C= c.1490C= (p.Thr497=) c.1466C= (p.Thr489=) n.579C= c.926C= (p.Thr309=) c.1310C= (p.Thr437=) c.1073C= (p.Thr358=) c.1334C= (p.Thr445=) c.1427C= (p.Thr476=) | dbSNP |