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Overview of included studies for CHOR-NKX2-1:
Click here for summary of patients' characteristics
Click here to show world map of all countries
Filter for
all included patients
index patients only
AAO < 50 (adjustable)
AAO >= 50 (adjustable)
females only
males only
homozygous only
heterozygous only
compound heterozygous only
homozygous and compound heterozygous
carrying
definitely pathogenic mutations
probably pathogenic mutations
possibly pathogenic mutations
c.(?_-99)_(881_?)del
c.-99-10884441_881+4288842del
c.-99-1442810_881+917226del
c.-99-186309_881+1983920del
c.-99-2166155_881+171496del
c.-99-2542230_4753+727614del
c.-99-292867_881+61431del
c.-99-3311438_881+1403948
c.-99-493053_881+834273del
c.-99-5606714_881+3608882del
c.-99-694536_881+65603del
c.-99-765345_77+106del
c.-99-82435_881+12611del
c.1022C>T
c.1161C>G
c.1204T>A
c.174_180delCATGGAG
c.243_256delGGCCATGCAGCAGC
c.246dupC
c.253C>T
c.267delG
c.294C>G
c.313dupG
c.319C>T
c.326C>A
c.347dupA
c.351C>A
c.428G>A
c.429delG
c.432C>A
c.432C>G
c.436_437dupGC
c.463+1G>A
c.464-1G>A
c.464-2A>C
c.464-2A>G
c.464-2A>T
c.464-9C>A
c.489delC
c.520G>T
c.524C>A
c.560_569delinsGCG
c.583delC
c.596C>A
c.606G>T
c.612C>G
c.612delC
c.613G>T
c.616C>G
c.617T>A
c.622C>T
c.626G>C
c.631A>T
c.634C>T
c.643T>G
c.650C>A
c.671T>G
c.672_673dup
c.675_676insGG
c.695C>T
c.698C>G
c.703G>T
c.713G>C
c.719A>C
c.727C>A
c.727C>T
c.728G>C
c.732C>A
c.745C>T
c.872C>T
c.876_877delCC
c.885delA
c.886_887delGA
c.908delG
c.915delC
c.915dupC
c.949dupC
c.978_1056delCGCGCAGGCGGCGGCAGCGGCCATCTCCGTGGGCAGCGGTGGCGCCGGCCTTGGCGCACACCCGGGCCACCAGCCAGGC
c.980_986delCGCAGGC
c.463+3_463+6delAAGT
c.463+4A>G
c.463+5G>C
c.802_803delGG
c.956_973delinsCTACA
Country
Australia
Brazil
Canada
France
Germany
Israel
Italy
Japan
Netherlands
Norway
Portugal
Spain
United Kingdom
United States
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Breedveld, 2002
Family study
9
n.a.
89%
0
p.Arg243Ser
: het
p.Gly303Valfs*78
: het
Krude, 2002
Case report/Case series
5
n.a.
n.a.
n.a.
whole gene deletion
: het
p.Val235Phe
: het
p.Ala225Glyfs*4
: het
p.Ser199*
: het
p.Cys117*
: het
Show more (+2)
Pohlenz, 2002
Case report/Case series
1
n.a.
100%
2
p.Val105Glyext*332
: het
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Dec. 2, 2020. Version: 3.5.95
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