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.

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