| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.99870407dup | CA16040827 | AGL | c.672dup (p.Ser225Ter) n.883dup c.624dup (p.Ser209Ter) c.621dup (p.Ser208Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99870407T= | CA3071928966 | AGL | c.672T= (p.Asn224=) n.883T= c.624T= (p.Asn208=) c.621T= (p.Asn207=) | dbSNP |