| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.13283695G>A | CA118904 | PHYH | c.823C>T (p.Arg275Trp) c.523C>T (p.Arg175Trp) c.772C>T (p.Arg258Trp) c.604C>T (p.Arg202Trp) c.829C>T (p.Arg277Trp) c.559C>T (p.Arg187Trp) c.529C>T (p.Arg177Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283695G= | CA1891546399 | PHYH | c.823C= (p.Arg275=) c.523C= (p.Arg175=) c.772C= (p.Arg258=) c.604C= (p.Arg202=) c.829C= (p.Arg277=) c.559C= (p.Arg187=) c.529C= (p.Arg177=) | dbSNP |