Table 1.
ID | Group | Variation type | Consequence | HGNC (symbol) | HGVSc | HGVSp | Exon (intron) | Zygosity | ||
---|---|---|---|---|---|---|---|---|---|---|
P1 | Atypical SCID | snv | missense_variant | RAG1 | c.1073G > A | p.Cys358Tyr | '2/2' | Hom | ||
P2 | Atypical SCID | snv | missense_variant | DCLRE1C | c.386G > T | p.Gly129Val | '6/14' | Hom | ||
P3 | Atypical SCID | snv | missense_variant | JAK3 | c.2164G > A | p.Val722Ile | '16/24' | Hom | ||
P4 | AT | InDel | frameshift_variant | ATM | c.6259delG | p.Glu2087LysfsTer9 | '43/63' | Comp Het | ||
snv | stop_gained | ATM | c.6658C > T | p.Gln2220Ter | '46/63' | |||||
P5 | AT | InDel | frameshift_variant | ATM | c.6629delA | p.Gln2210ArgfsTer25 | '46/63' | Hom | ||
P6 | AT | snv | missense_variant | ATM | c.6047A > G | p.Asp2016Gly | '41/63' | Hom | ||
P7 | AT | snv | missense_variant | ATM | c.6047A > G | p.Asp2016Gly | '41/63' | Comp Het | ||
snv | splice_donor_variant | ATM | c.6198 + 1G > A | '42/62' | ||||||
P8 | AT | snv | stop_gained | ATM | c.3102 T > G | p.Tyr1034Ter | '21/63' | Hom | ||
P9 | AT | InDel | large deletion | ATM | 1 ~ 2/63 | Hom | ||||
P10 | ICF1 | snv | missense_variant | DNMT3B | c.2166 T > A | p.Asp722Glu | '20/23' | Hom | ||
P11 | ICF1 | snv | missense_variant | DNMT3B | c.2166 T > A | p.Asp722Glu | '20/23' | Hom | ||
P12 | ICF1 | snv | missense_variant | DNMT3B | c.2166 T > A | p.Asp722Glu | '20/23' | Hom | ||
P13 | ICF1 | snv | missense_variant | DNMT3B | c.2428G > T | p.Gly810Cys | '23/23' | Hom | ||
P14 | ICF1 | snv | missense_variant | DNMT3B | c.2166 T > A | p.Asp722Glu | '20/23' | Hom | ||
P15 | ICF1 | snv | missense_variant | DNMT3B | c.1871A > G | p.Tyr624Cys | '17/23' | Hom | ||
P16 | ICF2 | InDel | frameshift_variant | ZBTB24 | c.795dupA | p.Asp266ArgfsTer28 | '2/7' | Hom | ||
P17 | ICF2 | snv | missense_variant | ZBTB24 | c.1148G > C | p.Cys383Ser | '4/7' | Hom | ||
P18 | ICF2 | snv | missense_variant | ZBTB24 | c.1148G > C | p.Cys383Ser | '4/7' | Hom | ||
P19 | ICF2 | snv | missense_variant | ZBTB24 | c.1224C > G | p.Cys408Trp | '5/7' | Hom |
snv single nucleotide variants, InDel insertions and deletions, HGNC Human Gene Nomenclature Committee, HGVSc Human Genome Variation Society codon, HGVSp Human Genome Variation Society polypeptide, Hom homozygous, Comp Het compound heterozygous