| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301846C>G | CA356177610 | WFS1 | c.2087C>G (p.Ala696Gly) c.2028C>G c.2051C>G (p.Ala684Gly) c.1802C>G (p.Ala601Gly) c.1710C>G (n.1710C>G) n.2236C>G c.2060C>G (p.Ala687Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301846C>T | CA129328 | WFS1 | c.2087C>T (p.Ala696Val) c.2028C>T c.2051C>T (p.Ala684Val) c.1802C>T (p.Ala601Val) c.1710C>T (n.1710C>T) n.2236C>T c.2060C>T (p.Ala687Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |