| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.98490103G>A | CA251382 | HPSE2 | c.1414C>T (p.Arg472Ter) c.1240C>T (p.Arg414Ter) c.805C>T (p.Arg269Ter) c.1078C>T (p.Arg360Ter) c.898C>T (p.Arg300Ter) c.1252C>T (p.Arg418Ter) c.610C>T (p.Arg204Ter) n.1487C>T n.1491C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.98490103G>C | CA212777988 | HPSE2 | c.1414C>G (p.Arg472Gly) c.1240C>G (p.Arg414Gly) c.805C>G (p.Arg269Gly) c.1078C>G (p.Arg360Gly) c.898C>G (p.Arg300Gly) c.1252C>G (p.Arg418Gly) c.610C>G (p.Arg204Gly) n.1487C>G n.1491C>G | dbSNP gnomAD v4 |