Gene SymbolOMIMPhenotypeMutationrsIDChromosomePositionRefAltInfo
TULP1602280RETINITIS PIGMENTOSA 14TULP1, ILE459LYSrs121909075635500100AGdbSNP_138;TSA=SNV;E_Multiple_observations;E_1000G;E_ESP;CLIN_pathogenic;MA=G;MAF=0.000459137;MAC=1;AA=A
TULP1602280RETINITIS PIGMENTOSA 14TULP1, ILE459LYSrs121909075635500100ATdbSNP_138;TSA=SNV;E_Multiple_observations;E_1000G;E_ESP;CLIN_pathogenic;MA=G;MAF=0.000459137;MAC=1;AA=A
TULP1602280RETINITIS PIGMENTOSA 14TULP1, ARG420PROrs121909073635503623CGdbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_not_provided;CLIN_pathogenic;AA=C
TULP1602280RETINITIS PIGMENTOSA 14TULP1, PHE491LEUrs121909074635500005AGdbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=A
TULP1602280RETINITIS PIGMENTOSA 14TULP1, PHE382SERrs121909076635503816AGdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=A
TULP1602280RETINITIS PIGMENTOSA 14TULP1, ARG482TRPrs121909077635500032GAdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G