| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6302371G>A | CA253207 | WFS1 | c.2612G>A (p.Arg871Gln) c.2553G>A c.2576G>A (p.Arg859Gln) c.2327G>A (p.Arg776Gln) n.2761G>A c.2585G>A (p.Arg862Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302371G>T | CA356179283 | WFS1 | c.2612G>T (p.Arg871Leu) c.2553G>T c.2576G>T (p.Arg859Leu) c.2327G>T (p.Arg776Leu) n.2761G>T c.2585G>T (p.Arg862Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |