| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.56949599G>A | CA210865 | C8B | c.*661C>T (n.*661C>T) c.*925C>T (n.*925C>T) c.820C>T (p.Arg274Ter) c.634C>T (p.Arg212Ter) c.664C>T (p.Arg222Ter) n.920C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.56949599G>T | CA417976954 | C8B | c.*661C>A (n.*661C>A) c.*925C>A (n.*925C>A) c.820C>A (p.Arg274=) c.634C>A (p.Arg212=) c.664C>A (p.Arg222=) n.920C>A | dbSNP gnomAD v2 |