| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.123373620_123373635del | CA590936291 | CRB2 | c.3089_3104del (p.Arg1030LeufsTer?) c.2093_2108del (p.Arg698LeufsTer?) n.2203_2218del c.3062_3077del (p.Arg1021LeufsTer?) c.2894_2909del (p.Arg965LeufsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123373620_123373635dup | CA10575686 | CRB2 | c.3089_3104dup (p.Gly1036AlafsTer?) c.2093_2108dup (p.Gly704AlafsTer?) n.2203_2218dup c.3062_3077dup (p.Gly1027AlafsTer?) c.2894_2909dup (p.Gly971AlafsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |