| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.151490963T>C | CA16602945 | RHEB | c.104A>G (p.Tyr35Cys) c.-212A>G (n.-212A>G) c.*52A>G (n.*52A>G) c.71A>G (p.Tyr24Cys) | ClinVar dbSNP COSMIC |
| 7 | g.151490963T>A | CA370052639 | RHEB | c.104A>T (p.Tyr35Phe) c.-212A>T (n.-212A>T) c.*52A>T (n.*52A>T) c.71A>T (p.Tyr24Phe) | dbSNP gnomAD v2 |
| 7 | g.151490963T>G | CA370052638 | RHEB | c.104A>C (p.Tyr35Ser) c.-212A>C (n.-212A>C) c.*52A>C (n.*52A>C) c.71A>C (p.Tyr24Ser) | ClinVar dbSNP |