Gene SymbolOMIMPhenotypeMutationrsIDChromosomePositionRefAltInfo
TERT187270PULMONARY FIBROSIS, TELOMERE-RELATED, 1TERT, 1-BP DEL, 2240Trs19942230051278686GAGdbSNP_138;TSA=deletion;CLIN_pathogenic;AA=A
TERT187270PULMONARY FIBROSIS, TELOMERE-RELATED, 1TERT, IVS9AS, A-C, -2rs11157674051266537TCdbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=T
TERT187270PULMONARY FIBROSIS, TELOMERE-RELATED, 1TERT, VAL791ILE AND VAL867METrs20115919751266519CAdbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;MA=A;MAF=0.000459137;MAC=1;AA=C
TERT187270PULMONARY FIBROSIS, TELOMERE-RELATED, 1TERT, IVS9AS, A-C, -2rs11157674051266537TGdbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=T
TERT187270PULMONARY FIBROSIS, TELOMERE-RELATED, 1TERT, VAL791ILE AND VAL867METrs20115919751266519CTdbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;MA=A;MAF=0.000459137;MAC=1;AA=C
TERT187270PULMONARY FIBROSIS, TELOMERE-RELATED, 1TERT, ARG865HISrs12191866651266524CTdbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=C
TERT187270PULMONARY FIBROSIS, TELOMERE-RELATED, 1TERT, IVS1DS, G-A, +1rs19942230951294770CTdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
TERT187270PULMONARY FIBROSIS, TELOMERE-RELATED, 1TERT, LEU55GLNrs38790724751294826ATdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=A