| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301306C>T | CA253190 | WFS1 | c.1547C>T (p.Pro516Leu) c.1488C>T c.1511C>T (p.Pro504Leu) c.1262C>T (p.Pro421Leu) c.1170C>T (p.Pro390=) n.1696C>T c.1520C>T (p.Pro507Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301306C>G | CA356175771 | WFS1 | c.1547C>G (p.Pro516Arg) c.1488C>G c.1511C>G (p.Pro504Arg) c.1262C>G (p.Pro421Arg) c.1170C>G (p.Pro390=) n.1696C>G c.1520C>G (p.Pro507Arg) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301306C>A | CA356175770 | WFS1 | c.1547C>A (p.Pro516Gln) c.1488C>A c.1511C>A (p.Pro504Gln) c.1262C>A (p.Pro421Gln) c.1170C>A (p.Pro390=) n.1696C>A c.1520C>A (p.Pro507Gln) | dbSNP gnomAD v2 |