| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301849G>A | CA322762 | WFS1 | c.2090G>A (p.Arg697His) c.2031G>A c.2054G>A (p.Arg685His) c.1805G>A (p.Arg602His) c.1713G>A (n.1713G>A) n.2239G>A c.2063G>A (p.Arg688His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301849G>C | CA261750 | WFS1 | c.2090G>C (p.Arg697Pro) c.2031G>C c.2054G>C (p.Arg685Pro) c.1805G>C (p.Arg602Pro) c.1713G>C (n.1713G>C) n.2239G>C c.2063G>C (p.Arg688Pro) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301849G>T | CA356177613 | WFS1 | c.2090G>T (p.Arg697Leu) c.2031G>T c.2054G>T (p.Arg685Leu) c.1805G>T (p.Arg602Leu) c.1713G>T (n.1713G>T) n.2239G>T c.2063G>T (p.Arg688Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301849G= | CA1435771972 | WFS1 | c.2090G= (p.Arg697=) c.2031G= c.2054G= (p.Arg685=) c.1805G= (p.Arg602=) c.1713G= (n.1713G=) n.2239G= c.2063G= (p.Arg688=) | dbSNP |