| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40272009C>T | CA116755 | ZMPSTE24 | c.743C>T (p.Pro248Leu) c.*584C>T (n.*584C>T) c.*485C>T (n.*485C>T) c.494C>T (p.Pro165Leu) n.937C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40272009C>G | CA791063 | ZMPSTE24 | c.743C>G (p.Pro248Arg) c.*584C>G (n.*584C>G) c.*485C>G (n.*485C>G) c.494C>G (p.Pro165Arg) n.937C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |