| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.1806513C>T | CA351379 | GNB1 | c.190G>A (p.Gly64Ser) c.-72G>A (n.-72G>A) c.229G>A (p.Gly77Ser) c.97G>A (p.Gly33Ser) n.833G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1806513C>G | CA337916401 | GNB1 | c.190G>C (p.Gly64Arg) c.-72G>C (n.-72G>C) c.229G>C (p.Gly77Arg) c.97G>C (p.Gly33Arg) n.833G>C | dbSNP |
| 1 | g.1806513C>A | CA337916391 | GNB1 | c.190G>T (p.Gly64Cys) c.-72G>T (n.-72G>T) c.229G>T (p.Gly77Cys) c.97G>T (p.Gly33Cys) n.833G>T | ClinVar dbSNP |