| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108271328del | CA1139662217 | ATM | c.2999del (p.Asn1000ThrfsTer2) c.*2470del (n.*2470del) n.2933del n.3149del c.*1734del (n.*1734del) c.2834del (p.Asn945ThrfsTer2) n.278del c.1955del (p.Asn652ThrfsTer2) c.1691del (p.Asn564ThrfsTer2) n.3732del | ClinVar dbSNP gnomAD v4 |
| 11 | g.108271328dup | CA16041396 | ATM | c.2999dup (p.Asn1000LysfsTer10) c.*2470dup (n.*2470dup) n.2933dup n.3149dup c.*1734dup (n.*1734dup) c.2834dup (p.Asn945LysfsTer10) n.278dup c.1955dup (p.Asn652LysfsTer10) c.1691dup (p.Asn564LysfsTer10) n.3732dup | ClinVar dbSNP |