| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.49904063G>A | CA10300264 | ALG12 | c.1242C>T (p.Tyr414=) c.444+116C>T c.651C>T c.1238+116C>T (n.1238+116C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.49904063G>C | CA252774 | ALG12 | c.1242C>G (p.Tyr414Ter) c.444+116C>G c.651C>G c.1238+116C>G (n.1238+116C>G) | ClinVar dbSNP |