| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.15559183C>G | CA356412606 | CC2D2A | c.2848C>G (p.Arg950Gly) c.2701C>G (p.Arg901Gly) n.927C>G n.68C>G n.775C>G c.2310C>G c.1176C>G c.2831C>G (n.2831C>G) n.3048C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.15559183C>T | CA114473 | CC2D2A | c.2848C>T (p.Arg950Ter) c.2701C>T (p.Arg901Ter) n.927C>T n.68C>T n.775C>T c.2310C>T c.1176C>T c.2831C>T (n.2831C>T) n.3048C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |