| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301879G>T | CA253186 | WFS1 | c.2120G>T (p.Gly707Val) c.2061G>T c.2084G>T (p.Gly695Val) c.1835G>T (p.Gly612Val) c.1743G>T (n.1743G>T) n.2269G>T c.2093G>T (p.Gly698Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301879G>A | CA2839593 | WFS1 | c.2120G>A (p.Gly707Asp) c.2061G>A c.2084G>A (p.Gly695Asp) c.1835G>A (p.Gly612Asp) c.1743G>A (n.1743G>A) n.2269G>A c.2093G>A (p.Gly698Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301879G= | CA1435772007 | WFS1 | c.2120G= (p.Gly707=) c.2061G= c.2084G= (p.Gly695=) c.1835G= (p.Gly612=) c.1743G= (n.1743G=) n.2269G= c.2093G= (p.Gly698=) | dbSNP |