| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.13288428C>T | CA118907 | PHYH | c.610G>A (p.Gly204Ser) c.310G>A (p.Gly104Ser) c.559G>A (p.Gly187Ser) c.616G>A (p.Gly206Ser) c.460-4589G>A (n.460-4589G>A) c.415-4589G>A (n.415-4589G>A) c.316G>A (p.Gly106Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.13288428C= | CA1891548429 | PHYH | c.610G= (p.Gly204=) c.310G= (p.Gly104=) c.559G= (p.Gly187=) c.616G= (p.Gly206=) c.460-4589G= (n.460-4589G=) c.415-4589G= (n.415-4589G=) c.316G= (p.Gly106=) | dbSNP |