| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2884750G>T | CA254540 | CDKN1C | n.143-616C>A c.255+452C>A (n.255+452C>A) c.740C>A (p.Ser247Ter) c.707C>A (p.Ser236Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2884750G>A | CA16613538 | CDKN1C | n.143-616C>T c.255+452C>T (n.255+452C>T) c.740C>T (p.Ser247Leu) c.707C>T (p.Ser236Leu) | ClinVar dbSNP gnomAD v4 |