| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108272782G>A | CA382515830 | ATM | c.3214G>A (p.Glu1072Lys) c.*2685G>A (n.*2685G>A) n.3364G>A c.3049G>A (p.Glu1017Lys) c.2170G>A (p.Glu724Lys) c.1906G>A (p.Glu636Lys) n.3947G>A | dbSNP |
| 11 | g.108272782G>C | CA382515834 | ATM | c.3214G>C (p.Glu1072Gln) c.*2685G>C (n.*2685G>C) n.3364G>C c.3049G>C (p.Glu1017Gln) c.2170G>C (p.Glu724Gln) c.1906G>C (p.Glu636Gln) n.3947G>C | dbSNP |
| 11 | g.108272782G>T | CA16613125 | ATM | c.3214G>T (p.Glu1072Ter) c.*2685G>T (n.*2685G>T) n.3364G>T c.3049G>T (p.Glu1017Ter) c.2170G>T (p.Glu724Ter) c.1906G>T (p.Glu636Ter) n.3947G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |