| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6302398G>A | CA324220 | WFS1 | c.2639G>A (p.Arg880His) c.2580G>A c.2603G>A (p.Arg868His) c.2354G>A (p.Arg785His) n.2788G>A c.2612G>A (p.Arg871His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302398G>C | CA91797871 | WFS1 | c.2639G>C (p.Arg880Pro) c.2580G>C c.2603G>C (p.Arg868Pro) c.2354G>C (p.Arg785Pro) n.2788G>C c.2612G>C (p.Arg871Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |