| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.96254106C>A | CA347653164 | TMEM127 | c.419G>T (p.Cys140Phe) c.167G>T (p.Cys56Phe) c.-500G>T (n.-500G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.96254106C>T | CA269757 | TMEM127 | c.419G>A (p.Cys140Tyr) c.167G>A (p.Cys56Tyr) c.-500G>A (n.-500G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |