TERT | 187270 | PULMONARY FIBROSIS, TELOMERE-RELATED, 1 | TERT, 1-BP DEL, 2240T | rs199422300 | 5 | 1278686 | GA | G | dbSNP_138;TSA=deletion;CLIN_pathogenic;AA=A |
TERT | 187270 | PULMONARY FIBROSIS, TELOMERE-RELATED, 1 | TERT, IVS9AS, A-C, -2 | rs111576740 | 5 | 1266537 | T | C | dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=T |
TERT | 187270 | PULMONARY FIBROSIS, TELOMERE-RELATED, 1 | TERT, VAL791ILE AND VAL867MET | rs201159197 | 5 | 1266519 | C | A | dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;MA=A;MAF=0.000459137;MAC=1;AA=C |
TERT | 187270 | PULMONARY FIBROSIS, TELOMERE-RELATED, 1 | TERT, IVS9AS, A-C, -2 | rs111576740 | 5 | 1266537 | T | G | dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=T |
TERT | 187270 | PULMONARY FIBROSIS, TELOMERE-RELATED, 1 | TERT, VAL791ILE AND VAL867MET | rs201159197 | 5 | 1266519 | C | T | dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;MA=A;MAF=0.000459137;MAC=1;AA=C |
TERT | 187270 | PULMONARY FIBROSIS, TELOMERE-RELATED, 1 | TERT, ARG865HIS | rs121918666 | 5 | 1266524 | C | T | dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=C |
TERT | 187270 | PULMONARY FIBROSIS, TELOMERE-RELATED, 1 | TERT, IVS1DS, G-A, +1 | rs199422309 | 5 | 1294770 | C | T | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C |
TERT | 187270 | PULMONARY FIBROSIS, TELOMERE-RELATED, 1 | TERT, LEU55GLN | rs387907247 | 5 | 1294826 | A | T | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=A |