| X | g.134498412C>T | CA255005 | HPRT1 | c.508C>T (p.Arg170Ter)
n.666C>T
n.466C>T
c.526C>T (p.Arg176Ter)
| ClinVar dbSNP |
| X | g.134498412C>A | CA10521433 | HPRT1 | c.508C>A (p.Arg170=)
n.666C>A
n.466C>A
c.526C>A (p.Arg176=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
