Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.134486471C>T | CA254997 | HPRT1 | c.325C>T (p.Gln109Ter) n.483C>T n.283C>T c.343C>T (p.Gln115Ter) | ClinVar dbSNP gnomAD v4 |
X | g.134486471C>A | CA10521368 | HPRT1 | c.325C>A (p.Gln109Lys) n.483C>A n.283C>A c.343C>A (p.Gln115Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |