| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.42178374A>C | CA364109146 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*531A>C (n.*531A>C) c.*794A>C (n.*794A>C) c.296A>C (p.Tyr99Ser) c.77A>C (p.Tyr26Ser) c.284A>C (p.Tyr95Ser) | ClinVar dbSNP |
| 6 | g.42178374A>G | CA120148 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*531A>G (n.*531A>G) c.*794A>G (n.*794A>G) c.296A>G (p.Tyr99Cys) c.77A>G (p.Tyr26Cys) c.284A>G (p.Tyr95Cys) | ClinVar dbSNP gnomAD v4 |