| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.1806503A>C | CA16603489 | GNB1 | c.200T>G (p.Ile67Ser) c.-62T>G (n.-62T>G) c.239T>G (p.Ile80Ser) c.107T>G (p.Ile36Ser) n.843T>G | ClinVar dbSNP |
| 1 | g.1806503A>T | CA351385 | GNB1 | c.200T>A (p.Ile67Asn) c.-62T>A (n.-62T>A) c.239T>A (p.Ile80Asn) c.107T>A (p.Ile36Asn) n.843T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1806503A>G | CA204758 | GNB1 | c.200T>C (p.Ile67Thr) c.-62T>C (n.-62T>C) c.239T>C (p.Ile80Thr) c.107T>C (p.Ile36Thr) n.843T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |