| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.148996462G>C | CA175129 | GYG1 | c.304G>C (p.Asp102His) n.197G>C c.166G>C (p.Asp56His) n.370+35G>C c.127G>C (p.Asp43His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.148996462G= | CA1410025611 | GYG1 | c.304G= (p.Asp102=) n.197G= c.166G= (p.Asp56=) n.370+35G= c.127G= (p.Asp43=) | dbSNP |