| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.39912909C>T | CA053174 | MOCS1 | c.853G>A (p.Glu285Lys) n.991G>A c.592G>A (p.Glu198Lys) c.766G>A (p.Glu256Lys) n.860G>A n.898G>A n.771G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.39912909C>G | CA3796137 | MOCS1 | c.853G>C (p.Glu285Gln) n.991G>C c.592G>C (p.Glu198Gln) c.766G>C (p.Glu256Gln) n.860G>C n.898G>C n.771G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.39912909C= | CA1622893240 | MOCS1 | c.853G= (p.Glu285=) n.991G= c.592G= (p.Glu198=) c.766G= (p.Glu256=) n.860G= n.898G= n.771G= | dbSNP |