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Table 2 Germline variants identified in patients with telomere biology disorders

From: Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

ID Gene Nucleotide changea Amino acid changea Inheritance MAFb Carriers (overall / Finland)b Affected domainc, ** REVEL scored, ** Classificatione Reference
P1.1 DKC1 c.1218_1219insCAG p.(Asp406_Ser407insGln) XLRf Likely pathogenic novel
P1.2 DKC1 c.1218_1219insCAG p.(Asp406_Ser407insGln) XLRf Likely pathogenic novel
P2 TERT c.2051A > G p.(Asp684Gly) AR 0.0015 27/25 Reverse transcriptase domain 0.548 Uncertain significance novel
TERT c.3202G > A p.(Glu1068Lys) AR 0.546 Uncertain significance novel
P3 RTEL1 c.1721G > C p.Arg574Pro AR 4.08E-06 1/0 ATP-dependent helicase, C-terminal; P-loop containing nucleoside triphosphate hydrolase 0.752 Likely pathogenic novel
RTEL1 c.3724_3725delTG p.(Cys1242Cysfsf18) AR 8.20E-06 2/1 Pathogenic novel
  1. Abbreviations: F, female; M, male; XLR, X-linked recessive, autosomal recessive; MAF, minor allele frequency
  2. **data retrieved with Annovar; AR
  3. DKC1 gene reference sequences (Ensembl): ENSG00000130826; ENST00000369550
  4. TERT gene reference sequences (Ensembl): ENSG00000164362; ENST00000296820
  5. RTEL1 gene reference sequences (Ensembl): ENSG00000258366; ENST00000318100
  6. alocation according to RefSeq
  7. bminor allele frequency according to gnomAD database**
  8. cInterPro database**
  9. dREVEL pathogenicity score** [26]
  10. eestimated according to the ACMG Standards and Guidelines [17]
  11. fmale