| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301166G>T | CA320009 | WFS1 | c.1407G>T (p.Arg469Ser) c.1348G>T c.1371G>T (p.Arg457Ser) c.1122G>T (p.Arg374Ser) c.1030G>T (p.Gly344Cys) n.1556G>T c.1380G>T (p.Arg460Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301166G= | CA1435772803 | WFS1 | c.1407G= (p.Arg469=) c.1348G= c.1371G= (p.Arg457=) c.1122G= (p.Arg374=) c.1030G= (p.Gly344=) n.1556G= c.1380G= (p.Arg460=) | dbSNP |