| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.12665511G>A | CA16041957 | MAN2B1 | c.277C>T (p.Gln93Ter) n.259C>T c.174C>T (p.Ser58=) n.215C>T c.268C>T (p.Gln90Ter) c.304C>T (p.Gln102Ter) n.318C>T c.-742C>T (n.-742C>T) | ClinVar dbSNP gnomAD v4 |
| 19 | g.12665511G= | CA2323507743 | MAN2B1 | c.277C= (p.Gln93=) n.259C= c.174C= (p.Ser58=) n.215C= c.268C= (p.Gln90=) c.304C= (p.Gln102=) n.318C= c.-742C= (n.-742C=) | dbSNP |