| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108287712C>G | CA382528689 | ATM | c.4106C>G (p.Ser1369Ter) c.*3577C>G (n.*3577C>G) n.1369C>G n.4256C>G c.3941C>G (p.Ser1314Ter) n.321C>G c.113C>G (p.Ser38Ter) n.535C>G c.62C>G (p.Ser21Ter) c.3062C>G (p.Ser1021Ter) c.2798C>G (p.Ser933Ter) n.4839C>G | ClinVar dbSNP |
| 11 | g.108287712C>A | CA16606070 | ATM | c.4106C>A (p.Ser1369Ter) c.*3577C>A (n.*3577C>A) n.1369C>A n.4256C>A c.3941C>A (p.Ser1314Ter) n.321C>A c.113C>A (p.Ser38Ter) n.535C>A c.62C>A (p.Ser21Ter) c.3062C>A (p.Ser1021Ter) c.2798C>A (p.Ser933Ter) n.4839C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108287712C= | CA1998795480 | ATM | c.4106C= (p.Ser1369=) c.*3577C= (n.*3577C=) n.1369C= n.4256C= c.3941C= (p.Ser1314=) n.321C= c.113C= (p.Ser38=) n.535C= c.62C= (p.Ser21=) c.3062C= (p.Ser1021=) c.2798C= (p.Ser933=) n.4839C= | dbSNP |
| 11 | g.108287712C>T | CA382528690 | ATM | c.4106C>T (p.Ser1369Leu) c.*3577C>T (n.*3577C>T) n.1369C>T n.4256C>T c.3941C>T (p.Ser1314Leu) n.321C>T c.113C>T (p.Ser38Leu) n.535C>T c.62C>T (p.Ser21Leu) c.3062C>T (p.Ser1021Leu) c.2798C>T (p.Ser933Leu) n.4839C>T | dbSNP gnomAD v4 |