| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.127663438C>G | CA358139675 | INTU | c.826C>G (p.Gln276Glu) c.769C>G (p.Gln257Glu) c.-255C>G (n.-255C>G) n.929C>G n.901C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.127663438C>T | CA3074906 | INTU | c.826C>T (p.Gln276Ter) c.769C>T (p.Gln257Ter) c.-255C>T (n.-255C>T) n.929C>T n.901C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |