| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.74762494C>T | CA5084148 | TRPM6 | c.4177G>A (p.Val1393Ile) c.4162G>A (p.Val1388Ile) c.4084G>A (p.Val1362Ile) c.4048G>A (p.Val1350Ile) c.4036G>A (p.Val1346Ile) c.3943G>A (p.Val1315Ile) c.3901G>A (p.Val1301Ile) c.3448G>A (p.Val1150Ile) c.2110G>A (p.Val704Ile) n.4415G>A c.3814G>A (p.Val1272Ile) c.3667G>A (p.Val1223Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.74762494C>A | CA5084149 | TRPM6 | c.4177G>T (p.Val1393Phe) c.4162G>T (p.Val1388Phe) c.4084G>T (p.Val1362Phe) c.4048G>T (p.Val1350Phe) c.4036G>T (p.Val1346Phe) c.3943G>T (p.Val1315Phe) c.3901G>T (p.Val1301Phe) c.3448G>T (p.Val1150Phe) c.2110G>T (p.Val704Phe) n.4415G>T c.3814G>T (p.Val1272Phe) c.3667G>T (p.Val1223Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |