| 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 |
| 4 | g.6301914G= | CA1435772042 | WFS1 | c.2155G= (p.Val719=) c.2096G= c.2119G= (p.Val707=) c.1870G= (p.Val624=) c.1778G= (n.1778G=) n.2304G= c.2128G= (p.Val710=) | dbSNP |
| 4 | g.6301914G>C | CA356177779 | WFS1 | c.2155G>C (p.Val719Leu) c.2096G>C c.2119G>C (p.Val707Leu) c.1870G>C (p.Val624Leu) c.1778G>C (n.1778G>C) n.2304G>C c.2128G>C (p.Val710Leu) | dbSNP gnomAD v4 |