| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.8000884A>G | CA15462221 | BLOC1S5-TXNDC5 | c.372+25483T>C (n.372+25483T>C) n.422+25483T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.8000884A= | CA1608832989 | BLOC1S5-TXNDC5 | c.372+25483T= (n.372+25483T=) n.422+25483T= | dbSNP |