| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.8813047C>T | CA7894139 | PMM2 | n.3748C>T c.580C>T (p.Arg194Ter) c.*198C>T (n.*198C>T) c.*202C>T (n.*202C>T) c.*120C>T (n.*120C>T) c.*476C>T (n.*476C>T) c.*302C>T (n.*302C>T) c.547C>T c.499C>T (p.Arg167Ter) c.307C>T (p.Arg103Ter) c.*38C>T (n.*38C>T) c.331C>T (p.Arg111Ter) c.205C>T (p.Arg69Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.8813047C= | CA2206136731 | PMM2 | n.3748C= c.580C= (p.Arg194=) c.*198C= (n.*198C=) c.*202C= (n.*202C=) c.*120C= (n.*120C=) c.*476C= (n.*476C=) c.*302C= (n.*302C=) c.547C= c.499C= (p.Arg167=) c.307C= (p.Arg103=) c.*38C= (n.*38C=) c.331C= (p.Arg111=) c.205C= (p.Arg69=) | dbSNP |