| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.13148884C>G | CA1346496022 | IQSEC1 | c.302+15220G>C (n.302+15220G>C) c.41+15122G>C (n.41+15122G>C) | dbSNP |
| 3 | g.13148884C>T | CA11351974 | IQSEC1 | c.302+15220G>A (n.302+15220G>A) c.41+15122G>A (n.41+15122G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |