Table 1.
Selected loss of function variants.
| Gene | Chromosome | HGVS genomic nomenclature | HGVS coding DNA nomenclature | rsID | gnomAD frequency | Total/partial; n° KO coding transcripts/n° coding transcripts | Identified subjects | Age |
|---|---|---|---|---|---|---|---|---|
| C7 (NM_000587.2) | 5 | NC_000005.9:g.40980013T>C | NM_000587.2:c.2350+2T>C | rs201240159 | 0.00028 | Total: 1/1 | Individual_1 | 55 |
| F12 (NM_000505.3) | 5 | NC_000005.9:g.176829461C>T | NM_000505.3:c.1681-1G>A | rs199988476 | 0.00039 | Total: 1/1 | Individual_2 | 79 |
| GPR68 (NM_003485.3) | 14 | NC_000014.8:g.91700389C>A | NM_003485.3:c.1006G>T | rs61745752 | 0.00092 | Total: 4/4 | Individual_3 | 68 |
| ACADSB (NM_001609.3) | 10 | NC_000010.10:g.124797364G>A | NM_001609.3:c.303+1G>A | rs147936696 | 0.00027 | Partial: 2/3 | Individual_4 Individual_5 | 82* 86 |
| FANCL (NM_018062.3) | 2 | NC_000002.11:g.58468447A>G | NM_018062.3:c.2T>C | rs761291501 | 0.00005 | Partial: 6/7 | Individual_6 | 74 |
| GRK1 (NM_002929.2) | 13 | NC_000013.10:g.114322401G>A | NM_002929.2:c.699+1G>A | rs1191610272 | 0 | Total: 1/1 | Individual_7 | 69* |
| LGI4 | 19 | NC_000019.9:g.35622287del | ENST00000591633.1:c.636del | rs770752678 | 0.00003 | Partial: 1/4 | Individual_8 | 75* |
| MPO (NM_000250.1) | 17 | NC_000017.10:g.56350831_56350844del | NM_000250.1:c.1552_1565del | rs536522394 | 0.00078 | Total: 3/3 | Individual_9 | 77 |
| PGAM2 (NM_000290.3) | 7 | NC_000007.13:g.44104494del | NM_000290.3:c.532del | rs747947171 | 0.00004 | Total: 1/1 | Individual_10 | 84 |
| RP1L1 (NM_178857.5) | 8 | NC_000008.10:g.10480385_10480386insA | NM_178857.5:c.326_327insT | rs771427543 | 0.00143 | Total: 1/1 | Individual_11 | 70 |
Gene: Genes carrying the selected variants. NM_ is referred to the canonical transcript of each gene, when the variant is reported also on the canonical transcript. HGVS genomic nomenclature: variants description according to the Human Genome Variation Society recommendations for linear genomic reference sequence; genomic data are aligned to the GRCh37/hg19 reference sequence. HGVS coding DNA nomenclature: variants description according to the Human Genome Variation Society recommendations for coding DNA reference sequence. rsID: Reference SNP cluster ID; rsIDs are updated to the latest dbSNP build (154). gnomAD frequency: variant frequency reported in gnomAD total allele frequency. Total/partial: each LoF variant has been classified as “Total” if it falls on all coding transcripts of a gene or as “Partial” if it falls only in some coding transcripts; n° KO coding transcripts/n° coding transcripts: number of coding transcripts for which the variant is a LoF over the total number of coding transcripts of each gene. Identified subjects: HKOs identification number. Age: age of identified subjects at follow-up (2019); individuals marked with an asterisk are deceased and age at first examination is reported.