| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2884110G>T | CA254546 | CDKN1C | n.167C>A c.280C>A (p.Gln94Lys) c.845C>A (p.Ser282Ter) c.812C>A (p.Ser271Ter) n.592C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.2884110G>C | CA254543 | CDKN1C | n.167C>G c.280C>G (p.Gln94Glu) c.845C>G (p.Ser282Ter) c.812C>G (p.Ser271Ter) n.592C>G | ClinVar dbSNP gnomAD v4 |