| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301295C>T | CA136336 | WFS1 | c.1536C>T (p.Asn512=) c.1477C>T c.1500C>T (p.Asn500=) c.1251C>T (p.Asn417=) c.1159C>T (p.Arg387Cys) n.1685C>T c.1509C>T (p.Asn503=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301295C>G | CA91796276 | WFS1 | c.1536C>G (p.Asn512Lys) c.1477C>G c.1500C>G (p.Asn500Lys) c.1251C>G (p.Asn417Lys) c.1159C>G (p.Arg387Gly) n.1685C>G c.1509C>G (p.Asn503Lys) | dbSNP gnomAD v4 |
| 4 | g.6301295C>A | CA91796275 | WFS1 | c.1536C>A (p.Asn512Lys) c.1477C>A c.1500C>A (p.Asn500Lys) c.1251C>A (p.Asn417Lys) c.1159C>A (p.Arg387Ser) n.1685C>A c.1509C>A (p.Asn503Lys) | dbSNP |