| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.128268254G>A | CA185895 | HS6ST1 | c.1144C>T (p.Arg382Trp) n.361-21729C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.128268254G>C | CA348460120 | HS6ST1 | c.1144C>G (p.Arg382Gly) n.361-21729C>G | dbSNP gnomAD v4 |
| 2 | g.128268254G= | CA1287276465 | HS6ST1 | c.1144C= (p.Arg382=) n.361-21729C= | dbSNP |