Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.38112559G>A | CA10230570 | PLA2G6 | c.2221C>T (p.Arg741Trp) c.*1419C>T (n.*1419C>T) c.*1079C>T (n.*1079C>T) c.2083C>T (p.Arg695Trp) c.*1960C>T (n.*1960C>T) c.*2080C>T (n.*2080C>T) c.2263C>T (p.Arg755Trp) n.2153C>T c.*1890C>T (n.*1890C>T) c.2059C>T (p.Arg687Trp) n.297C>T c.2116C>T (p.Arg706Trp) c.1687C>T (p.Arg563Trp) c.1543C>T (p.Arg515Trp) c.1525C>T (p.Arg509Trp) n.2404C>T n.2399C>T n.2365C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.38112559G>C | CA411523395 | PLA2G6 | c.2221C>G (p.Arg741Gly) c.*1419C>G (n.*1419C>G) c.*1079C>G (n.*1079C>G) c.2083C>G (p.Arg695Gly) c.*1960C>G (n.*1960C>G) c.*2080C>G (n.*2080C>G) c.2263C>G (p.Arg755Gly) n.2153C>G c.*1890C>G (n.*1890C>G) c.2059C>G (p.Arg687Gly) n.297C>G c.2116C>G (p.Arg706Gly) c.1687C>G (p.Arg563Gly) c.1543C>G (p.Arg515Gly) c.1525C>G (p.Arg509Gly) n.2404C>G n.2399C>G n.2365C>G | dbSNP gnomAD v4 |