| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301966C>T | CA253184 | WFS1 | c.2207C>T (p.Pro736Leu) c.2148C>T c.2171C>T (p.Pro724Leu) c.1922C>T (p.Pro641Leu) c.1830C>T (n.1830C>T) n.2356C>T c.2180C>T (p.Pro727Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301966C= | CA1435772130 | WFS1 | c.2207C= (p.Pro736=) c.2148C= c.2171C= (p.Pro724=) c.1922C= (p.Pro641=) c.1830C= (n.1830C=) n.2356C= c.2180C= (p.Pro727=) | dbSNP |
| 4 | g.6301966C>G | CA356177977 | WFS1 | c.2207C>G (p.Pro736Arg) c.2148C>G c.2171C>G (p.Pro724Arg) c.1922C>G (p.Pro641Arg) c.1830C>G (n.1830C>G) n.2356C>G c.2180C>G (p.Pro727Arg) | dbSNP gnomAD v4 |