| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.56956811C>A | CA340510554 | C8B | c.*190G>T (n.*190G>T) c.*454G>T (n.*454G>T) c.349G>T (p.Gly117Ter) c.163G>T (p.Gly55Ter) c.193G>T (p.Gly65Ter) n.449G>T | dbSNP |
| 1 | g.56956811C>T | CA876022 | C8B | c.*190G>A (n.*190G>A) c.*454G>A (n.*454G>A) c.349G>A (p.Gly117Arg) c.163G>A (p.Gly55Arg) c.193G>A (p.Gly65Arg) n.449G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.56956811C>G | CA340510555 | C8B | c.*190G>C (n.*190G>C) c.*454G>C (n.*454G>C) c.349G>C (p.Gly117Arg) c.163G>C (p.Gly55Arg) c.193G>C (p.Gly65Arg) n.449G>C | dbSNP |