Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219567787G>A | CA251674 | OBSL1 | c.1465C>T (p.Arg489Ter) c.226C>T (p.Arg76Ter) n.972C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219567787G>C | CA350758928 | OBSL1 | c.1465C>G (p.Arg489Gly) c.226C>G (p.Arg76Gly) n.972C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219567787G>T | CA66037476 | OBSL1 | c.1465C>A (p.Arg489=) c.226C>A (p.Arg76=) n.972C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |