| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48467155del | CA345480 | ATRIP,TREX1 | c.*1601del (n.*1601del) c.83del (p.Ser28ThrfsTer13) c.500del (p.Ser167ThrfsTer13) c.3095del c.470del (p.Ser157ThrfsTer13) n.418del c.665del (p.Ser222ThrfsTer13) c.*3320del (n.*3320del) n.1707del c.3453del (n.3453del) n.3809del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48467155G= | CA1363031201 | ATRIP,TREX1 | c.*1601G= (n.*1601G=) c.83G= (p.Ser28=) c.500G= (p.Ser167=) c.3095G= c.470G= (p.Ser157=) n.418G= c.665G= (p.Ser222=) c.*3320G= (n.*3320G=) n.1707G= c.3453G= (n.3453G=) n.3809G= | dbSNP dbSNP |