Genetic variants in lung transplant recipients with usual interstitial pneumonia
| Patient | Gene (inheritance) | Chromosome position | Variant | Genotype | gnomAD (n) | Age at onset | Classification |
| 1 | TERT (AD/AR) | 5:1279485 | c.2051A>G, p.(Asp684Gly) | HET | 29 | 56 | Pathogenic |
| 2 | TERT (AD/AR) | 5:1279485 | c.2051A>G, p.(Asp684Gly) | HET | 29 | 56 | Pathogenic |
| SERPINA1 (AR) | 14:94844947 | c.1096G>A, p.(Glu366Lys) | HET | 3054/25 | Pathogenic | ||
| 3 | TERT (AD/AR) | 5:1272362 | c.2320C>T, p.(Arg774*) | HET | 19 | 57 | Pathogenic |
| SERPINA1 (AR) | 14:94847262 | c.863A>T, p.(Glu288Val) | HET | 6136/132 | Pathogenic | ||
| 4 | TERT (AD/AR) | 5:1272362 | c.2320C>T, p.(Arg774*) | HET | 19 | 55 | Pathogenic |
| 5 | TERT (AD/AR) | 5:1264594 | c.2768C>T, p.(Pro923Leu) | HET | 1 | 63 | Likely pathogenic |
| 6 | DKC1 (XLR) | X:153999083 | c.965G>T, p.(Arg322Leu) | HEM | 0 | 47 | Likely pathogenic |
| TERT (AD/AR) | 5:1279562 | c.1974G>A, p.(Val658=) | HET | 11 | VUS | ||
| 7 | PARN (AD) | 16:14704440-14704726 | c. (388+1_389-1) _(554+1_555-1)del | HET | 0 | 53 | Likely pathogenic |
| 8 | PARN (AD) | 16:14540684-14576744 | c.(1480+1_1481-1) _(1864+1_1865-1)del | HET | 0 | 55 | Likely pathogenic |
| 9 | TINF2 (AD) | 14:24709846 | c.840G>C, p.(Lys280Asn) | HET | 0 | 59 | Pathogenic |
| TINF2 (AD) | 14:24709920 | c.766C>T, p.(Arg256*) | Mosaic | 0 | Likely pathogenic | ||
| 10 | HPS1 (AR) | 10:100186986 | c.972del, p.(Met325Trpfs*6) | HOM | 26 | 60 | Pathogenic |
| 11 | EDN3 (AD) | 20:57876506 | c.95_106delinsCA, p.(Gly32Alafs*174) | HET | 0 | 43 | Likely pathogenic |
| SFTPA2 (AD) | 10:81317087 | c.622_624del, p.(Tyr208del) | HET | 0 | VUS | ||
| 12 | DNAH9 (AR) | 17:11597289 | c.4719T>G, p.(Tyr1573*) | HET | 57 | 57 | Likely pathogenic |
| 13 | SCN4A (AD) | 17:62022079 | c.3866T>C, p.(Leu1289Pro) | HET | 0 | 65 | VUS |
| 14 | SERPINA1 (AR) | 14:94844947 | c.1096G>A, p.(Glu366Lys) | HET | 3054/25 | 51 | Pathogenic |
| 15 | SERPINA1 (AR) | 14:94844947 | c.1096G>A, p.(Glu366Lys) | HET | 3054/25 | 59 | Pathogenic |
Classifications follow American College of Medical Genetics and Genomic (ACMG) criteria: Pathogenic, Likely pathogenic, VUS. Variants considered molecular diagnoses are in bold. Patients 1–9 had telomere-related disease. AD: autosomal dominant; AD/AR: autosomal dominant and recessive; AR: autosomal recessive; XLR: X-linked recessive; Chr: chromosome; c.: coding DNA sequence; p.: protein sequence; >: substitution; *: termination codon; “=”: synonymous variant; del: deletion; fs: frameshift; delins: deletion/insertion; HET: heterozygote; HOM: homozygote; HEM: hemizygote; gnomAD: genome aggregation database (numbers indicate reported heterozygote/homozygote cases); VUS: variant of uncertain significance.