| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6289047G>A | CA2838877 | WFS1 | c.376G>A (p.Ala126Thr) c.366G>A c.127G>A (p.Ala43Thr) c.175G>A (p.Ala59Thr) c.250G>A (p.Ala84Thr) n.561G>A c.385G>A (p.Ala129Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6289047G= | CA1435766699 | WFS1 | c.376G= (p.Ala126=) c.366G= c.127G= (p.Ala43=) c.175G= (p.Ala59=) c.250G= (p.Ala84=) n.561G= c.385G= (p.Ala129=) | dbSNP |
| 4 | g.6289047G>T | CA356171482 | WFS1 | c.376G>T (p.Ala126Ser) c.366G>T c.127G>T (p.Ala43Ser) c.175G>T (p.Ala59Ser) c.250G>T (p.Ala84Ser) n.561G>T c.385G>T (p.Ala129Ser) | dbSNP gnomAD v4 |