| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.42178398T>C | CA358888 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*555T>C (n.*555T>C) c.*818T>C (n.*818T>C) c.320T>C (p.Ile107Thr) c.101T>C (p.Ile34Thr) c.308T>C (p.Ile103Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.42178398T= | CA1623945266 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*555T= (n.*555T=) c.*818T= (n.*818T=) c.320T= (p.Ile107=) c.101T= (p.Ile34=) c.308T= (p.Ile103=) | dbSNP |