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Genetic variants in humans and engineered C. elegans strains using CRISPR/Cas9
| Human NM_003986.3 | Protein Sequence Change | C. elegans Ortholog | Sequence Changes in gbh-1 |
|---|---|---|---|
| c.787G>A | Gly263Arg | gbh-1(G283R) | GGA->CGT |
| c.176A>G | Asp59Gly | gbh-1(D72G) | GAC>GGA |
| c.675delA | Gly227Valfs*6+VIQKL* | gbh-1(G247Vfs*6)+VIQKL* | deletion of GACATAGTCTATTTGTT and insertion of GTGATTCAGAAATTGTAG encoding VIQKL* |
| Knockout | No protein | gbh-1(ko) | Deletion of CDS |
