| COLQ | 603033 | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY | COLQ, GLU214TER | rs104893733 | 3 | 15470613 | C | A | dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=C |
| COLQ | 603033 | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY | COLQ, SER169TER | rs104893734 | 3 | 15475447 | G | C | dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=G |
| COLQ | 603033 | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY | COLQ, GLY240TER | rs104893735 | 3 | 15466437 | C | A | dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=C |
| COLQ | 603033 | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY | COLQ, ARG282TER | rs121908922 | 3 | 15458296 | T | A | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=T |
| COLQ | 603033 | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY | COLQ, TYR431SER | rs121908923 | 3 | 15453838 | T | G | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=T |
| COLQ | 603033 | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY | COLQ, ARG315TER | rs121908924 | 3 | 15458197 | G | A | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G |
