| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7911469T>A | CA1608801567 | BLOC1S5-TXNDC5 | c.373-6746A>T (n.373-6746A>T) n.423-6746A>T | dbSNP |
| 6 | g.7911469T>G | CA12364970 | BLOC1S5-TXNDC5 | c.373-6746A>C (n.373-6746A>C) n.423-6746A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |