| Gene | Protein | AA change | dbSNP | Phenotype |
|
Chain | Detail |
|
|
|
|
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | SLC12A3 | P55017 | p.Ala588Val | rs121909382 | Gitelman syndrome (GS) [MIM:263800] | Detail | 0.52 (T) |
0.998 (D) | N |
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