Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.56956799G>T | CA876017 | C8B | c.*202C>A (n.*202C>A) c.*466C>A (n.*466C>A) c.361C>A (p.Arg121=) c.175C>A (p.Arg59=) c.205C>A (p.Arg69=) n.461C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.56956799G>C | CA340510531 | C8B | c.*202C>G (n.*202C>G) c.*466C>G (n.*466C>G) c.361C>G (p.Arg121Gly) c.175C>G (p.Arg59Gly) c.205C>G (p.Arg69Gly) n.461C>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.56956799G>A | CA210867 | C8B | c.*202C>T (n.*202C>T) c.*466C>T (n.*466C>T) c.361C>T (p.Arg121Ter) c.175C>T (p.Arg59Ter) c.205C>T (p.Arg69Ter) n.461C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |