TMC6 | 605828 | EPIDERMODYSPLASIA VERRUCIFORMIS | TMC6, ARG94TER | rs121908327 | 17 | 78125876 | G | A | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G |
TMC6 | 605828 | EPIDERMODYSPLASIA VERRUCIFORMIS | TMC6, GLU576TER | rs121908328 | 17 | 78119382 | C | A | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C |
TMC6 | 605828 | EPIDERMODYSPLASIA VERRUCIFORMIS | TMC6, TYR248TER | rs121908329 | 17 | 78124671 | G | T | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G |
TMC8 | 605829 | EPIDERMODYSPLASIA VERRUCIFORMIS | TMC8, GLU362TER | rs121908330 | 17 | 78134966 | G | A | dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=G |
TMC8 | 605829 | EPIDERMODYSPLASIA VERRUCIFORMIS | TMC8, GLU362TER | rs121908330 | 17 | 78134966 | G | T | dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=G |