| Gene | Protein | AA change | dbSNP | Phenotype |
|
Chain | Detail |
|
|
|
|
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | PMM2 | O15305 | p.Gly117Arg | rs104894530 | Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] | 2amy |
A |
Detail | 0.00 (D) |
1 (D) |
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