Gene SymbolOMIMPhenotypeMutationrsIDChromosomePositionRefAltInfo
SCNN1B600760LIDDLE SYNDROMESCNN1B, PRO616LEUrs3879064021623380725CGdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
SCNN1B600760LIDDLE SYNDROMESCNN1B, PRO616ARGrs3879064021623380725CGdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
SCNN1B600760LIDDLE SYNDROMESCNN1B, PRO616LEUrs3879064021623380725CTdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
SCNN1B600760LIDDLE SYNDROMESCNN1B, PRO616ARGrs3879064021623380725CTdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
SCNN1B600760LIDDLE SYNDROMESCNN1B, ARG564TERrs1378527041623380574CTdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
SCNN1B600760LIDDLE SYNDROMESCNN1B, TYR618HISrs1378527071623380736TCdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=T
SCNN1B600760LIDDLE SYNDROMESCNN1B, PRO615SERrs1378527081623380727CTdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
SCNN1G600761LIDDLE SYNDROMESCNN1G, TRP574TERrs1378533421623215237GAdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G