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Table 1 Genetic results of HS patient

From: Exome sequencing for diagnosis of congenital hemolytic anemia

Patient ID Gene name transcript Nucleotide change AA change zygosity References
rsNumber 		gnomAD allele frequency Polyphen-2 Mutation taster MaxEnt Scan CADD score ACMG class
P1 ANK1 NM_020476 c.5152C > T p.Gln1718* het No 0 NA NA   37 LP
  HBA1 NM_0005558 c.389 T > C p.L130P het Darbellay et al 1995 0 PD DC   23.4 LP
P2 ANK1 NM_020476 c.1702-2A > C   het No ref 0 NA NA −100% 34 LP
  HFE NM_000410 c.187C > G p.H63D het Kaczorowska-Hac et al 2016
rs1799945 		10.83% B P   12.8 VUS
  HFE NM_000410 c.845G > A p.C282Y het Kaczorowska-Hac et al 2016
rs1800562 		3.37% PD DC   25.2 P
P3 SLC4A1 NM_000342 c.1458C > G p.Y486* het No 0 NA NA   35 LP
P4 SLC4A1 NM_000342 c.486-2A > G   het no 0 NA NA −100% 25.3 P
P5 SPTB NM_001024858 c.1331_1338del p.Leu444Profs*3 het Dhermy et al 1998 0 NA DC    P
P6 ANK1 NM_020476 c.5497C > T p.R1833* het Hayette et al 1998 0     47 P
P7 SLC4A1 NM_000342 c.1322 T > G p.L441R het No 0 PD DC No effect 26.8 VUS
P8 ANK1 NM_020476 c.1801-17G > A   het Duru et al
rs786205243 		0    Creation of a cryptic acceptor 8.2 LP
P9 ANK1 NM_020476 c.4462C > T p.R1488* het Ozcan et al 2003
rs777701149 		0     36 P
P10 ANK1 NM_020476 c.1A > G p.? het no 0 NA NA NA 14.3 P
P11 SPTB NM_001024858 c.2863C > T p.R955* het no 0 NA NA NA 37 P
  SPTA1 NM_003126 c.6421C > T p.R2141W het Niss et al 2016
rs41273519 		0.2% PD DC   27.4 LP
P12 SPTB NM_001024858 c.4973 + 5G > A   het no 0 NA NA −100% 16.48 VUS
P13 ANK1 NM_020476 c.534delC p.H178Qfs*75 het no 0 NA NA    LP
P14 SPTB NM_001024858 c.5623C > T p.Q1875* het no 0 NA NA   48 LP
P15 SLC4A1 NM_000342 c.1462G > A p.V488M het Alloisio et al 1997
rs28931584 		0.00041% PD DC No effect 24.5 P
P16 ANK1 NM_020476 c.712-2A > G   het no 0 NA NA −100% 34 LP
P17 SLC4A1 NM_000342 c.2423G > A p.R808H het Bogardus et al 2012
rs866727908 		0 PD DC No effect 33 LP
  PIEZO1   c.2578G > A p.V860M het rs532390680 0.0028% PossD DC No effect   VUS
P18 SLC4A1 NM_000342 c.2279G > A p.R760Q het Jarolim et al 1995 0 PD DC No effect 29.6 LP
P19 SPTB NM_001024858 c.3436dup p.L1146Pfs*36 het no 0 NA NA    LP
  SPTB NM_001024858 c.6101G > A p.S2034N het no 0.00041% B DC No effect 22.9 VUS
P20 SPTB NM_001024858 c.3916C > T p.R1306* het No
rs150471537 		0 NA NA   38 LP
  1. Table 1 legend: Variants description and classification according to ACMG guidelines as benign likely benign (LB) variant of uncertain significance (VUS) likely pathogenic (LP) or pathogenic (P). In silico study of missense variations was assessed thanks to Polyphen-2, Mutation taster and CADD score algorithm. HGMD professional and pubmed web interface were used to check for variants description in litterature. Abbreviations: het: heterozygous state; hom: homozygous state; hem: hemizygous state; F: female; M: male; HS: hereditary spherocytosis; gnomAD: genome agregation database https://gnomad.broadinstitute.org; ND: not done; NA: not applicable; DC: disease causing; P: polymorphism; PD: probably damaging; PossD: possibly damaging; B: benign.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172