| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.8811674C>T | CA254231 | PMM2 | n.3652C>T c.484C>T (p.Arg162Trp) c.*102C>T (n.*102C>T) c.*106C>T (n.*106C>T) c.*24C>T (n.*24C>T) c.*380C>T (n.*380C>T) c.*206C>T (n.*206C>T) c.451C>T c.403C>T (p.Arg135Trp) c.211C>T (p.Arg71Trp) c.215C>T (p.Thr72Met) c.235C>T (p.Arg79Trp) c.109C>T (p.Arg37Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.8811674C= | CA2206136006 | PMM2 | n.3652C= c.484C= (p.Arg162=) c.*102C= (n.*102C=) c.*106C= (n.*106C=) c.*24C= (n.*24C=) c.*380C= (n.*380C=) c.*206C= (n.*206C=) c.451C= c.403C= (p.Arg135=) c.211C= (p.Arg71=) c.215C= (p.Thr72=) c.235C= (p.Arg79=) c.109C= (p.Arg37=) | dbSNP |