| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.50790783C>G | CA407005428 | ACP4,SMIM47 | c.226C>G (p.Arg76Gly) c.-59-1068G>C (n.-59-1068G>C) n.425-1068G>C n.435-1068G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.50790783C>T | CA16043945 | ACP4,SMIM47 | c.226C>T (p.Arg76Cys) c.-59-1068G>A (n.-59-1068G>A) n.425-1068G>A n.435-1068G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |