| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108284415dup | CA10579128 | ATM | c.3935dup (p.Glu1313ArgfsTer8) c.*3406dup (n.*3406dup) n.282dup n.4085dup c.3770dup (p.Glu1258ArgfsTer8) c.2891dup (p.Glu965ArgfsTer8) c.2627dup (p.Glu877ArgfsTer8) n.4668dup | ClinVar dbSNP gnomAD v4 |
| 11 | g.108284415G= | CA3182873603 | ATM | c.3935G= (p.Arg1312=) c.*3406G= (n.*3406G=) n.282G= n.4085G= c.3770G= (p.Arg1257=) c.2891G= (p.Arg964=) c.2627G= (p.Arg876=) n.4668G= | dbSNP dbSNP |