| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6302164C>A | CA277064 | WFS1 | c.2405C>A (p.Ser802Ter) c.2346C>A c.2369C>A (p.Ser790Ter) c.2120C>A (p.Ser707Ter) n.2554C>A c.2378C>A (p.Ser793Ter) | ClinVar dbSNP |
| 4 | g.6302164C>T | CA2839705 | WFS1 | c.2405C>T (p.Ser802Leu) c.2346C>T c.2369C>T (p.Ser790Leu) c.2120C>T (p.Ser707Leu) n.2554C>T c.2378C>T (p.Ser793Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.6302164C>G | CA295582 | WFS1 | c.2405C>G (p.Ser802Trp) c.2346C>G c.2369C>G (p.Ser790Trp) c.2120C>G (p.Ser707Trp) n.2554C>G c.2378C>G (p.Ser793Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |