| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48467562A>C | CA345489 | ATRIP,TREX1 | c.*2008A>C (n.*2008A>C) c.490A>C (p.Thr164Pro) c.907A>C (p.Thr303Pro) c.3502A>C c.877A>C (p.Thr293Pro) c.1072A>C (p.Thr358Pro) c.*3727A>C (n.*3727A>C) n.2114A>C c.3860A>C (n.3860A>C) n.4216A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48467562A= | CA1363031429 | ATRIP,TREX1 | c.*2008A= (n.*2008A=) c.490A= (p.Thr164=) c.907A= (p.Thr303=) c.3502A= c.877A= (p.Thr293=) c.1072A= (p.Thr358=) c.*3727A= (n.*3727A=) n.2114A= c.3860A= (n.3860A=) n.4216A= | dbSNP |