| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.40176672C>T | CA118485 | BUB1B | c.580C>T (p.Arg194Ter) c.622C>T (p.Arg208Ter) n.392-2188G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40176672C>A | CA489706574 | BUB1B | c.580C>A (p.Arg194=) c.622C>A (p.Arg208=) n.392-2188G>T | ClinVar dbSNP |
| 15 | g.40176672C= | CA2171657798 | BUB1B | c.580C= (p.Arg194=) c.622C= (p.Arg208=) n.392-2188G= | dbSNP |
| 15 | g.40176672C>G | CA391681598 | BUB1B | c.580C>G (p.Arg194Gly) c.622C>G (p.Arg208Gly) n.392-2188G>C | ClinVar dbSNP gnomAD v4 |