Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.968125dup | CA114830 | RSPO4 | c.98dup (p.Asn34GlnfsTer?) c.146dup (p.Asn50GlnfsTer?) n.218dup n.213dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.968125del | CA2577315605 | RSPO4 | c.98del (p.Gly33AlafsTer?) c.146del (p.Gly49AlafsTer?) n.218del n.213del | dbSNP gnomAD v4 |