| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7909734C>A | CA1608799108 | BLOC1S5-TXNDC5,TXNDC5 | c.263+780G>T (n.263+780G>T) c.373-5011G>T (n.373-5011G>T) c.-62+79G>T (n.-62+79G>T) n.423-5011G>T | dbSNP gnomAD v4 |
| 6 | g.7909734C>T | CA12362545 | BLOC1S5-TXNDC5,TXNDC5 | c.263+780G>A (n.263+780G>A) c.373-5011G>A (n.373-5011G>A) c.-62+79G>A (n.-62+79G>A) n.423-5011G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |