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 |