| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.13288512G>A | CA376035772 | PHYH | c.526C>T (p.Gln176Ter) c.226C>T (p.Gln76Ter) c.475C>T (p.Gln159Ter) c.532C>T (p.Gln178Ter) c.460-4673C>T (n.460-4673C>T) c.415-4673C>T (n.415-4673C>T) c.232C>T (p.Gln78Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13288512G>T | CA118906 | PHYH | c.526C>A (p.Gln176Lys) c.226C>A (p.Gln76Lys) c.475C>A (p.Gln159Lys) c.532C>A (p.Gln178Lys) c.460-4673C>A (n.460-4673C>A) c.415-4673C>A (n.415-4673C>A) c.232C>A (p.Gln78Lys) | ClinVar dbSNP gnomAD v4 |