| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6293966C>A | CA1435770152 | WFS1 | c.713-1039C>A (n.713-1039C>A) c.690-1075C>A c.713-1075C>A (n.713-1075C>A) c.464-1075C>A (n.464-1075C>A) c.512-1075C>A (n.512-1075C>A) c.310-1039C>A n.898-1075C>A c.722-1075C>A (n.722-1075C>A) | dbSNP |
| 4 | g.6293966C>G | CA116906 | WFS1 | c.713-1039C>G (n.713-1039C>G) c.690-1075C>G c.713-1075C>G (n.713-1075C>G) c.464-1075C>G (n.464-1075C>G) c.512-1075C>G (n.512-1075C>G) c.310-1039C>G n.898-1075C>G c.722-1075C>G (n.722-1075C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |