| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108272799dup | CA16041398 | ATM | c.3231dup (p.Leu1078SerfsTer3) c.*2702dup (n.*2702dup) n.3381dup c.3066dup (p.Leu1023SerfsTer3) c.2187dup (p.Leu730SerfsTer3) c.1923dup (p.Leu642SerfsTer3) n.3964dup | ClinVar dbSNP |
| 11 | g.108272798_108272799del | CA2825001824 | ATM | c.3230_3231del (p.Phe1077SerfsTer3) c.*2701_*2702del (n.*2701_*2702del) n.3380_3381del c.3065_3066del (p.Phe1022SerfsTer3) c.2186_2187del (p.Phe729SerfsTer3) c.1922_1923del (p.Phe641SerfsTer3) n.3963_3964del | ClinVar dbSNP |