Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.56940965G>C | CA340522796 | C8B | c.*1123C>G (n.*1123C>G) c.*1387C>G (n.*1387C>G) c.1153C>G (p.Arg385Gly) c.1282C>G (p.Arg428Gly) c.1096C>G (p.Arg366Gly) c.1126C>G (p.Arg376Gly) n.1141C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.56940965G>A | CA210849 | C8B | c.*1123C>T (n.*1123C>T) c.*1387C>T (n.*1387C>T) c.1153C>T (p.Arg385Ter) c.1282C>T (p.Arg428Ter) c.1096C>T (p.Arg366Ter) c.1126C>T (p.Arg376Ter) n.1141C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.56940965G>T | CA417976620 | C8B | c.*1123C>A (n.*1123C>A) c.*1387C>A (n.*1387C>A) c.1153C>A (p.Arg385=) c.1282C>A (p.Arg428=) c.1096C>A (p.Arg366=) c.1126C>A (p.Arg376=) n.1141C>A | dbSNP gnomAD v2 gnomAD v4 |