| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6302250C>G | CA356178611 | WFS1 | c.2491C>G (p.Gln831Glu) c.2432C>G c.2455C>G (p.Gln819Glu) c.2206C>G (p.Gln736Glu) n.2640C>G c.2464C>G (p.Gln822Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302250C>T | CA253194 | WFS1 | c.2491C>T (p.Gln831Ter) c.2432C>T c.2455C>T (p.Gln819Ter) c.2206C>T (p.Gln736Ter) n.2640C>T c.2464C>T (p.Gln822Ter) | ClinVar dbSNP |
| 4 | g.6302250C= | CA1435772528 | WFS1 | c.2491C= (p.Gln831=) c.2432C= c.2455C= (p.Gln819=) c.2206C= (p.Gln736=) n.2640C= c.2464C= (p.Gln822=) | dbSNP |