Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.81264677C>A | CA284263685 | BCO1 | c.509C>A (p.Thr170Lys) c.*133C>A (n.*133C>A) c.-41C>A (n.-41C>A) n.970C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.81264677C>T | CA117066 | BCO1 | c.509C>T (p.Thr170Met) c.*133C>T (n.*133C>T) c.-41C>T (n.-41C>T) n.970C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |