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{"sheet":"Tabelle1","index":0,"n_rows":47,"n_cols":13,"rows_kept":47,"merged":[[0,0,0,1],[0,3,0,6],[0,8,0,12],[1,0,1,1],[1,3,1,4],[1,5,1,6],[1,9,1,10],[1,11,1,12],[2,0,2,1],[3,0,3,1],[4,0,4,1],[5,0,5,1],[6,0,6,1],[7,0,7,1],[8,3,8,4],[8,5,8,6],[8,9,8,10],[8,11,8,12],[9,0,9,1],[9,3,9,4],[9,5,9,6],[9,9,9,10],[9,11,9,12],[10,0,10,1],[10,3,10,4],[10,5,10,6],[10,9,10,10],[10,11,10,12],[11,0,11,1],[11,3,11,4],[11,5,11,6],[11,9,11,10],[11,11,11,12],[12,0,12,1],[12,3,12,4],[12,5,12,6],[12,9,12,10],[12,11,12,12],[13,0,13,1],[13,3,13,4],[13,5,13,6],[13,9,13,10],[13,11,13,12],[14,0,14,1],[14,3,14,4],[14,5,14,6],[14,9,14,10],[14,11,14,12],[15,0,15,1],[15,3,15,4],[15,5,15,6],[15,9,15,10],[15,11,15,12],[16,0,16,1],[16,3,16,4],[16,5,16,6],[16,9,16,10],[16,11,16,12],[17,3,17,4],[17,5,17,6],[17,9,17,10],[17,11,17,12],[18,3,18,4],[18,5,18,6],[18,9,18,10],[18,11,18,12],[19,3,19,4],[19,5,19,6],[19,9,19,10],[19,11,19,12],[20,0,20,1],[20,3,20,4],[20,5,20,6],[20,9,20,10],[20,11,20,12],[21,0,21,1],[21,3,21,4],[21,5,21,6],[21,9,21,10],[21,11,21,12],[22,0,22,1],[22,3,22,4],[22,5,22,6],[22,9,22,10],[22,11,22,12],[23,0,23,1],[23,3,23,4],[23,5,23,6],[23,9,23,10],[23,11,23,12],[24,0,24,1],[24,3,24,4],[24,5,24,6],[24,9,24,10],[24,11,24,12],[25,0,25,1],[25,3,25,4],[25,5,25,6],[25,9,25,10],[25,11,25,12],[26,0,26,1],[26,3,26,4],[26,5,26,6],[26,9,26,10],[26,11,26,12],[27,0,27,1],[27,3,27,4],[27,5,27,6],[27,9,27,10],[27,11,27,12],[28,0,28,1],[28,3,28,4],[28,5,28,6],[28,9,28,10],[28,11,28,12],[29,0,29,1],[29,3,29,4],[29,5,29,6],[29,9,29,10],[29,11,29,12],[30,0,30,1],[30,3,30,4],[30,5,30,6],[30,9,30,10],[30,11,30,12],[31,0,31,1],[31,3,31,4],[31,5,31,6],[31,9,31,10],[31,11,31,12],[32,0,32,1],[32,3,32,4],[32,5,32,6],[32,9,32,10],[32,11,32,12],[33,0,33,1],[33,3,33,4],[33,5,33,6],[33,9,33,10],[33,11,33,12],[34,0,34,1],[34,3,34,4],[34,5,34,6],[34,9,34,10],[34,11,34,12],[35,0,35,1],[35,3,35,4],[35,5,35,6],[35,9,35,10],[35,11,35,12],[36,0,36,1],[36,3,36,4],[36,5,36,6],[36,9,36,10]],"flags":["formulas_cached_only"]}
[null,null,"Family 1","Family 2",{"$nulls":3},"Family 3","Family 4"]
[null,null,"Indiviual 1","Fetus 2",null,"Fetus 3",null,"Fetus 4","Fetus 5","Fetus 6",null,"Fetus 7"]
["PIEZO1 variants",null,null,"Variant 1","Variant 2","Variant 1","Variant 2",null,"No DNA available","Variant 1","Variant 2","Variant 1","Variant 2"]
["cDNA  (NM_001142864.3)",null,"c.2604T>A","c.6468_6469del","c.4775+1G>A","c.6468_6469del","c.4775+1G>A","c.7117C>T","NA","c.1965C>G","c.635-1G>A","c.1965C>G","c.635-1G>A"]
["Protein (NP_001136336.2)",null,"p.(Cys868*)","p.(Lys2157Glufs*63)","p.(?)","p.(Lys2157Glufs*63)","p.(?)","p.(Gln2373*)","NA","p.(Tyr655*)","p.(?)","p.(Tyr655*)","p.(?)"]
["Genomic DNA (NC_000016.10)",null,"g.88799746A>T","g.88785984_88785985del","g.88788990C>T","g.88785984_88785985del","g.88788990C>T","g.88782618G>A","NA","g.88801090G>C","g.88804849C>T","g.88801090G>C","g.88804849C>T"]
["Exon (51 exons)",null,19,44,"Intron 35",44,"Intron 35",49,"NA",15,"Intron 6",15,"Intron 6"]
["Inheritance",null,"Biparental","Maternal","Paternal","Maternal","Paternal","Biparental","NA","Paternal","Maternal","Paternal","Maternal"]
["Zygozity",null,"Homozygous","Compound heterozygous",null,"Compound heterozygous",null,"Homozygous","NA","Compound heterozygous",null,"Compound heterozygous"]
["Method of variant detection ",null,"ES","ES",null,"ES",null,"ES","NA","Clinical exome targeting 4427 genes",null,"Sanger sequencing"]
["Pregnancy"]
["Type (spontaneous/assisted reproduction)",null,"Spontaneous","Spontaneous",null,"Spontaneous",null,"Spontaneous","Spontaneous","Spontaneous",null,"Spontaneous "]
["Gestational week at first signs ",null,22,20,null,"18 + 3",null,20,"25 + 3",23,null,"NA"]
["Nuchal translucency (mm) /craniocaudal length",null,"2,1 / 83","1,4 / 68,4",null,"1,3 / 71,1",null,"2,4 / 71,2","0,9 / 55","1,5 / 86,1",null,"NR"]
["first trimester combined screening ",null,"1/10 000","1/6918",null,"< 1/10 000",null,"1/1058","NR","NR",null,"NR"]
["Maternal serum markers ",null,"PAPP-A 1,28 MoM / βHCG 0,5 Mom","PAPP-A 0,51 MoM / βHCG 0,88 Mom",null,"PAPP-A 0,92 MoM / βHCG 0,57 Mom",null,"PAPP-A 0,49 MoM / βHCG 1,35 Mom","NR","NR",null,"NR"]
["NIHF",null,"+","+",null,"+",null,"+","+","+",null,"-"]
[null,"Ascite","+","-",null,"-",null,"+","-","-",null,"-"]
[null,"Pleural effusion (type)","+ (chylothorax)","+ (chylothorax)",null,"+ ",null,"+","+","+",null,"-"]
[null,"Skin oedema ","+","+",null,"+",null,"NA","+","+",null,"-"]
["Hydramnios/Polyhydramnios",null,"+","+",null,"-",null,"-","+","-",null,"-"]
["Other US findings",null,"-","-",null,"-",null,"Hepatomegaly","Macrocephaly, dilat V3","-",null,"-"]
["Outcome ",null,"Live birth at 35 + 4 WG","TOP",null,"TOP",null,"TOP","TOP","TOP",null,"TOP"]
["Fetal autopsy",null,"+","+",null,"+",null,"- (parental refusal)","- (parental refusal)","- (parental refusal)",null,"+"]
["Gestational week",null,"Death at 1 mo (39 WG)","28+2",null,"19 + 5",null,28,28,24,null,"13 +4 "]
["Gender",null,"Female","Male",null,"Male",null,"Female","Male","Male",null,"Male"]
["Body weight (grams/SDS)",null,"3325 (75-90)","1775 (75-90)",null,"438 (>2SD)",null,"2260g (>3SD)","3940 (>3SD)","1230 (>3SD)",null,"53 (75-90)"]
["Body length (cm/SDS)",null,"48,5 (10-25)","43 (50-75)",null,"25,5 (1 SD)",null,"NA","49 (>3SD)","NA",null,"13 (50)"]
["Head circumference (cm/SDS)",null,"34 (25-50)",29,null,"17 (0 SD)",null,"NA","36 (>3SD)","NA",null,"9,5 (50)"]
["Lymphoedema",null,"+","+ (cutaneous generalised lymphoedema)",null,"+ (cutaneous generalised lymphoedema)",null,"NA","NA","NA",null,"-"]
["Dysmorphic features ",null,"-","-",null,"anteverted nares, dysplastic ears, micrognathia",null,"NA","NA","NA",null,"-"]
["Visceral malformations",null,"-","-",null,"-",null,"NA","NA","NA",null,"-"]
["Hepatomegaly",null,"-","-",null,"-",null,"+ (US finding)","NA","NA",null,"-"]
["Lymphangiectasia ",null,"+","-",null,"-",null,"NA","NA","NA",null,"-"]
["Other features ",null,"-","-",null,"-",null,"NA","NA","NA",null,"-"]
["Placenta",null,"Signs of Maternal Vascular Malperfusion","Hypertrophy and placental edema ",null,"Hypertrophy and placental edema ",null,"Hypertrophy and delayed villous maturation","Hypertrophy and placental edema","Hypertrophy",null,"Hypertrophy"]
["Familial pedigree if available"]
[]
[]
[]
[]
["NIHF","Non-immune hydrops fetalis"]
["US","Ultrasound"]
["NA","Not applicable"]
["NR","Not realised"]
["TOP","Medical termination of pregnancy"]
["WG","Weeks of gestation"]

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