| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.42178328C>T | CA358885 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*485C>T (n.*485C>T) c.*748C>T (n.*748C>T) c.250C>T (p.Leu84Phe) c.31C>T (p.Leu11Phe) c.238C>T (p.Leu80Phe) | ClinVar dbSNP |
| 6 | g.42178328C= | CA1623945231 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*485C= (n.*485C=) c.*748C= (n.*748C=) c.250C= (p.Leu84=) c.31C= (p.Leu11=) c.238C= (p.Leu80=) | dbSNP |