| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42911295C>T | CA399657220 | G6PC1 | c.943C>T (p.Pro315Ser) c.*335C>T (n.*335C>T) | dbSNP COSMIC |
| 17 | g.42911295C>G | CA323719 | G6PC1 | c.943C>G (p.Pro315Ala) c.*335C>G (n.*335C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911295C= | CA2260697474 | G6PC1 | c.943C= (p.Pro315=) c.*335C= (n.*335C=) | dbSNP |