| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108289611C>T | CA16041410 | ATM | c.4246C>T (p.Gln1416Ter) c.*3717C>T (n.*3717C>T) n.1509C>T n.4396C>T c.4081C>T (p.Gln1361Ter) n.461C>T c.253C>T (p.Gln85Ter) n.675C>T c.202C>T (p.Gln68Ter) c.3202C>T (p.Gln1068Ter) c.2938C>T (p.Gln980Ter) n.4979C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.108289611C>G | CA382531001 | ATM | c.4246C>G (p.Gln1416Glu) c.*3717C>G (n.*3717C>G) n.1509C>G n.4396C>G c.4081C>G (p.Gln1361Glu) n.461C>G c.253C>G (p.Gln85Glu) n.675C>G c.202C>G (p.Gln68Glu) c.3202C>G (p.Gln1068Glu) c.2938C>G (p.Gln980Glu) n.4979C>G | dbSNP |