Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.75986165G>T | CA257657 | POR | c.1597G>T (p.Val533Phe) c.1723G>T (p.Val575Phe) c.1822G>T (p.Val608Phe) c.*124G>T (n.*124G>T) c.1036G>T (p.Val346Phe) c.1973G>T c.*1127G>T (n.*1127G>T) n.433G>T c.1876G>T (p.Val626Phe) c.1672G>T (p.Val558Phe) c.1813G>T (p.Val605Phe) c.1867G>T (p.Val623Phe) c.1663G>T (p.Val555Phe) | ClinVar dbSNP |
7 | g.75986165G>A | CA4304308 | POR | c.1597G>A (p.Val533Ile) c.1723G>A (p.Val575Ile) c.1822G>A (p.Val608Ile) c.*124G>A (n.*124G>A) c.1036G>A (p.Val346Ile) c.1973G>A c.*1127G>A (n.*1127G>A) n.433G>A c.1876G>A (p.Val626Ile) c.1672G>A (p.Val558Ile) c.1813G>A (p.Val605Ile) c.1867G>A (p.Val623Ile) c.1663G>A (p.Val555Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |