| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108284360dup | CA16041405 | ATM | c.3880dup (p.Ile1294AsnfsTer8) c.*3351dup (n.*3351dup) n.227dup n.4030dup c.3715dup (p.Ile1239AsnfsTer8) c.2836dup (p.Ile946AsnfsTer8) c.2572dup (p.Ile858AsnfsTer8) n.4613dup | ClinVar dbSNP gnomAD v4 |
| 11 | g.108284360A= | CA1998792001 | ATM | c.3880A= (p.Ile1294=) c.*3351A= (n.*3351A=) n.227A= n.4030A= c.3715A= (p.Ile1239=) c.2836A= (p.Ile946=) c.2572A= (p.Ile858=) n.4613A= | dbSNP dbSNP |