| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.77444311G>C | CA390698149 | VIPAS39 | c.535C>G (p.Gln179Glu) c.388C>G (p.Gln130Glu) n.425C>G c.613C>G (p.Gln205Glu) c.505-1159C>G (n.505-1159C>G) n.657C>G c.505-3C>G (n.505-3C>G) c.358-1159C>G (n.358-1159C>G) n.642C>G | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.77444311G>A | CA113860 | VIPAS39 | c.535C>T (p.Gln179Ter) c.388C>T (p.Gln130Ter) n.425C>T c.613C>T (p.Gln205Ter) c.505-1159C>T (n.505-1159C>T) n.657C>T c.505-3C>T (n.505-3C>T) c.358-1159C>T (n.358-1159C>T) n.642C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |