| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132888417G>T | CA210696 | TG | c.2610G>T (p.Gln870His) c.2349G>T (p.Gln783His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132888417G>A | CA463216898 | TG | c.2610G>A (p.Gln870=) c.2349G>A (p.Gln783=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132888417G= | CA1820990212 | TG | c.2610G= (p.Gln870=) c.2349G= (p.Gln783=) | dbSNP |