| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108284411C>T | CA286822 | ATM | c.3931C>T (p.Gln1311Ter) c.*3402C>T (n.*3402C>T) n.278C>T n.4081C>T c.3766C>T (p.Gln1256Ter) c.2887C>T (p.Gln963Ter) c.2623C>T (p.Gln875Ter) n.4664C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108284411C>A | CA382525889 | ATM | c.3931C>A (p.Gln1311Lys) c.*3402C>A (n.*3402C>A) n.278C>A n.4081C>A c.3766C>A (p.Gln1256Lys) c.2887C>A (p.Gln963Lys) c.2623C>A (p.Gln875Lys) n.4664C>A | dbSNP |
| 11 | g.108284411C>G | CA382525897 | ATM | c.3931C>G (p.Gln1311Glu) c.*3402C>G (n.*3402C>G) n.278C>G n.4081C>G c.3766C>G (p.Gln1256Glu) c.2887C>G (p.Gln963Glu) c.2623C>G (p.Gln875Glu) n.4664C>G | dbSNP |