| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.96254107A>C | CA347653171 | TMEM127 | c.418T>G (p.Cys140Gly) c.166T>G (p.Cys56Gly) c.-501T>G (n.-501T>G) | dbSNP |
| 2 | g.96254107A>G | CA269754 | TMEM127 | c.418T>C (p.Cys140Arg) c.166T>C (p.Cys56Arg) c.-501T>C (n.-501T>C) | ClinVar dbSNP |