| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.1232972C>T | CA144523 | B3GALT6 | c.694C>T (p.Arg232Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.1232972C>G | CA337828534 | B3GALT6 | c.694C>G (p.Arg232Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1232972C= | CA1144228646 | B3GALT6 | c.694C= (p.Arg232=) | dbSNP |