| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.75479308T>C | CA250518 | CHST6 | c.521A>G (p.Lys174Arg) n.733+2509A>G n.577+2509A>G | ClinVar dbSNP gnomAD v4 |
| 16 | g.75479308T= | CA2233372867 | CHST6 | c.521A= (p.Lys174=) n.733+2509A= n.577+2509A= | dbSNP |
| 16 | g.75479308T>A | CA396792489 | CHST6 | c.521A>T (p.Lys174Met) n.733+2509A>T n.577+2509A>T | dbSNP |