| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42901107G>C | CA320198 | G6PC1 | c.230+1G>C (n.230+1G>C) n.295+1G>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.42901107G= | CA2260692931 | G6PC1 | c.230+1G= (n.230+1G=) n.295+1G= | dbSNP |
| 17 | g.42901107G>T | CA399651616 | G6PC1 | c.230+1G>T (n.230+1G>T) n.295+1G>T | ClinVar dbSNP |