| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7533651A>T | CA347339 | MCOLN1 | c.1704A>T (p.Gly568=) n.2019A>T c.432A>T c.57A>T n.258A>T | ClinVar dbSNP |
| 19 | g.7533651A>C | CA9139225 | MCOLN1 | c.1704A>C (p.Gly568=) n.2019A>C c.432A>C c.57A>C n.258A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7533651A= | CA2320965470 | MCOLN1 | c.1704A= (p.Gly568=) n.2019A= c.432A= c.57A= n.258A= | dbSNP |