| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.42173762C>G | CA3805273 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*384C>G (n.*384C>G) c.*647C>G (n.*647C>G) c.149C>G (p.Pro50Arg) c.137C>G (p.Pro46Arg) c.-134C>G (n.-134C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.42173762C>T | CA120149 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*384C>T (n.*384C>T) c.*647C>T (n.*647C>T) c.149C>T (p.Pro50Leu) c.137C>T (p.Pro46Leu) c.-134C>T (n.-134C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |