Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.83320204G>T | CA1472740181 | HPSE | c.374-735C>A (n.374-735C>A) n.393-735C>A | dbSNP |
4 | g.83320204G>C | CA799186088 | HPSE | c.374-735C>G (n.374-735C>G) n.393-735C>G | dbSNP |
4 | g.83320204G>A | CA11693062 | HPSE | c.374-735C>T (n.374-735C>T) n.393-735C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |