| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.13283694C>T | CA118908 | PHYH | c.824G>A (p.Arg275Gln) c.524G>A (p.Arg175Gln) c.773G>A (p.Arg258Gln) c.605G>A (p.Arg202Gln) c.830G>A (p.Arg277Gln) c.560G>A (p.Arg187Gln) c.530G>A (p.Arg177Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.13283694C= | CA1891546398 | PHYH | c.824G= (p.Arg275=) c.524G= (p.Arg175=) c.773G= (p.Arg258=) c.605G= (p.Arg202=) c.830G= (p.Arg277=) c.560G= (p.Arg187=) c.530G= (p.Arg177=) | dbSNP |