| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.42179248C>G | CA3805422 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*686C>G (n.*686C>G) c.*949C>G (n.*949C>G) c.451C>G (p.Leu151Val) c.232C>G (p.Leu78Val) c.463C>G (p.Leu155Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.42179248C>T | CA130274 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*686C>T (n.*686C>T) c.*949C>T (n.*949C>T) c.451C>T (p.Leu151Phe) c.232C>T (p.Leu78Phe) c.463C>T (p.Leu155Phe) | ClinVar dbSNP gnomAD v4 |