| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.13866116dup | CA130434 | GRIN2B | c.99dup (p.Ser34GlnfsTer25) c.99dup (p.Ser34GlnfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.13866115_13866116dup | CA2838033003 | GRIN2B | c.98_99dup (p.Ser34ProfsTer?) | ClinVar dbSNP |
| 12 | g.13866116del | CA478853941 | GRIN2B | c.99del (p.Ser34AlafsTer?) | ClinVar dbSNP gnomAD v4 COSMIC |