| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.70950408A>T | CA1637001312 | B3GAT2 | c.591+5431T>A (n.591+5431T>A) c.375+5647T>A (n.375+5647T>A) | dbSNP |
| 6 | g.70950408A>G | CA141275281 | B3GAT2 | c.591+5431T>C (n.591+5431T>C) c.375+5647T>C (n.375+5647T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |