| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42911374T>A | CA256191 | G6PC1 | c.1022T>A (p.Ile341Asn) c.*414T>A (n.*414T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42911374T>C | CA399657667 | G6PC1 | c.1022T>C (p.Ile341Thr) c.*414T>C (n.*414T>C) | dbSNP |
| 17 | g.42911374T= | CA2260697511 | G6PC1 | c.1022T= (p.Ile341=) c.*414T= (n.*414T=) | dbSNP |