| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.49457872G>A | CA364404436 | MMUT | c.572C>T (p.Ala191Val) | ClinVar dbSNP |
| 6 | g.49457872G>T | CA312777 | MMUT | c.572C>A (p.Ala191Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.49457872G>C | CA364404437 | MMUT | c.572C>G (p.Ala191Gly) | dbSNP gnomAD v4 |
| 6 | g.49457872G= | CA1627395279 | MMUT | c.572C= (p.Ala191=) | dbSNP |