| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301891C>T | CA253201 | WFS1 | c.2132C>T (p.Thr711Met) c.2073C>T c.2096C>T (p.Thr699Met) c.1847C>T (p.Thr616Met) c.1755C>T (n.1755C>T) n.2281C>T c.2105C>T (p.Thr702Met) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301891C= | CA1435772020 | WFS1 | c.2132C= (p.Thr711=) c.2073C= c.2096C= (p.Thr699=) c.1847C= (p.Thr616=) c.1755C= (n.1755C=) n.2281C= c.2105C= (p.Thr702=) | dbSNP |