Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.107210483G>A | CA114833 | PDSS2 | c.964C>T (p.Gln322Ter) c.139C>T (p.Gln47Ter) c.876+1626C>T (n.876+1626C>T) c.829C>T (p.Gln277Ter) c.556C>T (p.Gln186Ter) c.703-16629C>T (n.703-16629C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107210483G>C | CA3945972 | PDSS2 | c.964C>G (p.Gln322Glu) c.139C>G (p.Gln47Glu) c.876+1626C>G (n.876+1626C>G) c.829C>G (p.Gln277Glu) c.556C>G (p.Gln186Glu) c.703-16629C>G (n.703-16629C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |