| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301815G>A | CA321852 | WFS1 | c.2056G>A (p.Gly686Arg) c.1997G>A c.2020G>A (p.Gly674Arg) c.1771G>A (p.Gly591Arg) c.1679G>A (n.1679G>A) n.2205G>A c.2029G>A (p.Gly677Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301815G>C | CA2839574 | WFS1 | c.2056G>C (p.Gly686Arg) c.1997G>C c.2020G>C (p.Gly674Arg) c.1771G>C (p.Gly591Arg) c.1679G>C (n.1679G>C) n.2205G>C c.2029G>C (p.Gly677Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301815G= | CA1435771928 | WFS1 | c.2056G= (p.Gly686=) c.1997G= c.2020G= (p.Gly674=) c.1771G= (p.Gly591=) c.1679G= (n.1679G=) n.2205G= c.2029G= (p.Gly677=) | dbSNP |
| 4 | g.6301815G>T | CA356177300 | WFS1 | c.2056G>T (p.Gly686Trp) c.1997G>T c.2020G>T (p.Gly674Trp) c.1771G>T (p.Gly591Trp) c.1679G>T (n.1679G>T) n.2205G>T c.2029G>T (p.Gly677Trp) | ClinVar dbSNP gnomAD v4 |