| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301936A>C | CA261752 | WFS1 | c.2177A>C (p.Asn726Thr) c.2118A>C c.2141A>C (p.Asn714Thr) c.1892A>C (p.Asn631Thr) c.1800A>C (n.1800A>C) n.2326A>C c.2150A>C (p.Asn717Thr) | ClinVar dbSNP |
| 4 | g.6301936A= | CA1435772076 | WFS1 | c.2177A= (p.Asn726=) c.2118A= c.2141A= (p.Asn714=) c.1892A= (p.Asn631=) c.1800A= (n.1800A=) n.2326A= c.2150A= (p.Asn717=) | dbSNP |
| 4 | g.6301936A>T | CA356177863 | WFS1 | c.2177A>T (p.Asn726Ile) c.2118A>T c.2141A>T (p.Asn714Ile) c.1892A>T (p.Asn631Ile) c.1800A>T (n.1800A>T) n.2326A>T c.2150A>T (p.Asn717Ile) | ClinVar dbSNP |