| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.27516348G>A | CA250659 | EPHX2 | c.860G>A (p.Arg287Gln) c.701G>A (p.Arg234Gln) c.311G>A (p.Arg104Gln) c.764G>A (p.Arg255Gln) n.944G>A c.736G>A c.662G>A (p.Arg221Gln) n.380G>A c.737G>A (p.Arg246Gln) n.918G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27516348G>T | CA370813909 | EPHX2 | c.860G>T (p.Arg287Leu) c.701G>T (p.Arg234Leu) c.311G>T (p.Arg104Leu) c.764G>T (p.Arg255Leu) n.944G>T c.736G>T c.662G>T (p.Arg221Leu) n.380G>T c.737G>T (p.Arg246Leu) n.918G>T | dbSNP |
| 8 | g.27516348G>C | CA370813908 | EPHX2 | c.860G>C (p.Arg287Pro) c.701G>C (p.Arg234Pro) c.311G>C (p.Arg104Pro) c.764G>C (p.Arg255Pro) n.944G>C c.736G>C c.662G>C (p.Arg221Pro) n.380G>C c.737G>C (p.Arg246Pro) n.918G>C | dbSNP gnomAD v4 |
| 8 | g.27516348G= | CA1772863130 | EPHX2 | c.860G= (p.Arg287=) c.701G= (p.Arg234=) c.311G= (p.Arg104=) c.764G= (p.Arg255=) n.944G= c.736G= c.662G= (p.Arg221=) n.380G= c.737G= (p.Arg246=) n.918G= | dbSNP |