| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108282735_108282736del | CA658822194 | ATM | c.3602_3603del (p.Phe1201TrpfsTer3) c.*3073_*3074del (n.*3073_*3074del) n.3752_3753del c.3437_3438del (p.Phe1146TrpfsTer3) c.2558_2559del (p.Phe853TrpfsTer3) c.2294_2295del (p.Phe765TrpfsTer3) n.4335_4336del | ClinVar dbSNP gnomAD v4 |
| 11 | g.108282736del | CA16041403 | ATM | c.3603del (p.Phe1201LeufsTer6) c.*3074del (n.*3074del) n.3753del c.3438del (p.Phe1146LeufsTer6) c.2559del (p.Phe853LeufsTer6) c.2295del (p.Phe765LeufsTer6) n.4336del | ClinVar dbSNP gnomAD v4 |