| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108279521del | CA476672664 | ATM | c.3315del (p.Arg1106GlyfsTer3) c.*2786del (n.*2786del) n.3465del c.3150del (p.Arg1051GlyfsTer3) c.2271del (p.Arg758GlyfsTer3) c.2007del (p.Arg670GlyfsTer3) n.4048del | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 11 | g.108279521dup | CA16041399 | ATM | c.3315dup (p.Arg1106GlnfsTer16) c.*2786dup (n.*2786dup) n.3465dup c.3150dup (p.Arg1051GlnfsTer16) c.2271dup (p.Arg758GlnfsTer16) c.2007dup (p.Arg670GlnfsTer16) n.4048dup | ClinVar dbSNP gnomAD v4 |