Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.157148764C>T | CA203785 | ARID1B | c.2902C>T (p.Arg968Ter) c.2812C>T (p.Arg938Ter) c.916C>T (p.Arg306Ter) c.2941C>T (p.Arg981Ter) c.2653C>T (p.Arg885Ter) c.1060C>T (p.Arg354Ter) n.803C>T c.223C>T (p.Arg75Ter) n.36C>T c.141C>T c.403C>T (p.Arg135Ter) c.2692C>T (p.Arg898Ter) n.1651C>T c.919C>T (p.Arg307Ter) n.749C>T c.1603C>T (p.Arg535Ter) c.1423C>T (p.Arg475Ter) c.1183C>T (p.Arg395Ter) c.802C>T (p.Arg268Ter) c.-20+15557C>T (n.-20+15557C>T) c.2734C>T (p.Arg912Ter) c.2554C>T (p.Arg852Ter) n.2817C>T | ClinVar dbSNP |
6 | g.157148764C>G | CA366388904 | ARID1B | c.2902C>G (p.Arg968Gly) c.2812C>G (p.Arg938Gly) c.916C>G (p.Arg306Gly) c.2941C>G (p.Arg981Gly) c.2653C>G (p.Arg885Gly) c.1060C>G (p.Arg354Gly) n.803C>G c.223C>G (p.Arg75Gly) n.36C>G c.141C>G c.403C>G (p.Arg135Gly) c.2692C>G (p.Arg898Gly) n.1651C>G c.919C>G (p.Arg307Gly) n.749C>G c.1603C>G (p.Arg535Gly) c.1423C>G (p.Arg475Gly) c.1183C>G (p.Arg395Gly) c.802C>G (p.Arg268Gly) c.-20+15557C>G (n.-20+15557C>G) c.2734C>G (p.Arg912Gly) c.2554C>G (p.Arg852Gly) n.2817C>G | dbSNP gnomAD v4 |
6 | g.157148764C>A | CA452990148 | ARID1B | c.2902C>A (p.Arg968=) c.2812C>A (p.Arg938=) c.916C>A (p.Arg306=) c.2941C>A (p.Arg981=) c.2653C>A (p.Arg885=) c.1060C>A (p.Arg354=) n.803C>A c.223C>A (p.Arg75=) n.36C>A c.141C>A c.403C>A (p.Arg135=) c.2692C>A (p.Arg898=) n.1651C>A c.919C>A (p.Arg307=) n.749C>A c.1603C>A (p.Arg535=) c.1423C>A (p.Arg475=) c.1183C>A (p.Arg395=) c.802C>A (p.Arg268=) c.-20+15557C>A (n.-20+15557C>A) c.2734C>A (p.Arg912=) c.2554C>A (p.Arg852=) n.2817C>A | dbSNP |