Gene SymbolOMIMPhenotypeMutationrsIDChromosomePositionRefAltInfo
TMC6605828EPIDERMODYSPLASIA VERRUCIFORMISTMC6, ARG94TERrs1219083271778125876GAdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G
TMC6605828EPIDERMODYSPLASIA VERRUCIFORMISTMC6, GLU576TERrs1219083281778119382CAdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
TMC6605828EPIDERMODYSPLASIA VERRUCIFORMISTMC6, TYR248TERrs1219083291778124671GTdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G
TMC8605829EPIDERMODYSPLASIA VERRUCIFORMISTMC8, GLU362TERrs1219083301778134966GAdbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=G
TMC8605829EPIDERMODYSPLASIA VERRUCIFORMISTMC8, GLU362TERrs1219083301778134966GTdbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=G