TULP1 | 602280 | RETINITIS PIGMENTOSA 14 | TULP1, ILE459LYS | rs121909075 | 6 | 35500100 | A | G | dbSNP_138;TSA=SNV;E_Multiple_observations;E_1000G;E_ESP;CLIN_pathogenic;MA=G;MAF=0.000459137;MAC=1;AA=A |
TULP1 | 602280 | RETINITIS PIGMENTOSA 14 | TULP1, ILE459LYS | rs121909075 | 6 | 35500100 | A | T | dbSNP_138;TSA=SNV;E_Multiple_observations;E_1000G;E_ESP;CLIN_pathogenic;MA=G;MAF=0.000459137;MAC=1;AA=A |
TULP1 | 602280 | RETINITIS PIGMENTOSA 14 | TULP1, ARG420PRO | rs121909073 | 6 | 35503623 | C | G | dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_not_provided;CLIN_pathogenic;AA=C |
TULP1 | 602280 | RETINITIS PIGMENTOSA 14 | TULP1, PHE491LEU | rs121909074 | 6 | 35500005 | A | G | dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=A |
TULP1 | 602280 | RETINITIS PIGMENTOSA 14 | TULP1, PHE382SER | rs121909076 | 6 | 35503816 | A | G | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=A |
TULP1 | 602280 | RETINITIS PIGMENTOSA 14 | TULP1, ARG482TRP | rs121909077 | 6 | 35500032 | G | A | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G |