Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6301914G>A | CA325333 | WFS1 | c.2155G>A (p.Val719Ile) c.2096G>A c.2119G>A (p.Val707Ile) c.1870G>A (p.Val624Ile) c.1778G>A (n.1778G>A) n.2304G>A c.2128G>A (p.Val710Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301914G>T | CA259830 | WFS1 | c.2155G>T (p.Val719Phe) c.2096G>T c.2119G>T (p.Val707Phe) c.1870G>T (p.Val624Phe) c.1778G>T (n.1778G>T) n.2304G>T c.2128G>T (p.Val710Phe) | ClinVar dbSNP |