| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.12649146A>G | CA341737 | MAN2B1 | c.2426T>C (p.Leu809Pro) c.2423T>C (p.Leu808Pro) n.3016T>C c.2429T>C (p.Leu810Pro) c.1325T>C (p.Leu442Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.12649146A>T | CA404240901 | MAN2B1 | c.2426T>A (p.Leu809Gln) c.2423T>A (p.Leu808Gln) n.3016T>A c.2429T>A (p.Leu810Gln) c.1325T>A (p.Leu442Gln) | dbSNP |
| 19 | g.12649146A= | CA2323499552 | MAN2B1 | c.2426T= (p.Leu809=) c.2423T= (p.Leu808=) n.3016T= c.2429T= (p.Leu810=) c.1325T= (p.Leu442=) | dbSNP |