| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.183664009C>T | CA16044220 | TRAPPC11 | c.142C>T (p.Arg48Ter) n.288C>T c.-1115C>T (n.-1115C>T) n.334C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.183664009C>G | CA111833002 | TRAPPC11 | c.142C>G (p.Arg48Gly) n.288C>G c.-1115C>G (n.-1115C>G) n.334C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |