| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.121641283C>T | CA6837512 | ORAI1 | n.668C>T c.546C>T (p.Ile182=) n.744C>T c.*211C>T (n.*211C>T) c.357C>T (p.Ile119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121641283C>G | CA6837513 | ORAI1 | n.668C>G c.546C>G (p.Ile182Met) n.744C>G c.*211C>G (n.*211C>G) c.357C>G (p.Ile119Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |