Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.108272572A>T | CA382515206 | ATM | c.3118A>T (p.Met1040Leu) c.*2589A>T (n.*2589A>T) n.3268A>T c.2953A>T (p.Met985Leu) c.2074A>T (p.Met692Leu) c.1810A>T (p.Met604Leu) n.3851A>T | dbSNP |
11 | g.108272572A>G | CA151920 | ATM | c.3118A>G (p.Met1040Val) c.*2589A>G (n.*2589A>G) n.3268A>G c.2953A>G (p.Met985Val) c.2074A>G (p.Met692Val) c.1810A>G (p.Met604Val) n.3851A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |