| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.23645747G>T | CA7429981 | MAGEL2 | c.1996C>A (p.Gln666Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.23645747G>A | CA10588578 | MAGEL2 | c.1996C>T (p.Gln666Ter) | ClinVar dbSNP |
| 15 | g.23645747G>C | CA7429980 | MAGEL2 | c.1996C>G (p.Gln666Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |