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The world largest knowledge-driven lysosomal storage disease (LSD) database

With a focus on the potential for worldwide diagnostic opportunities and treatment for patients, we have made our extensive knowledge and understanding of lysosomal storage diseases available online. 

Introducing CentoLSD™

In sharing our variant classification of GBA and GLA genetic changes, CENTOGENE is dedicated to full transparency and disclosure of our knowledge and understanding  ̶  critical for any clinical judgement.

CENTOGENE’s comprehensive classification of variants is based on a highly qualified and standardized curation workflow. Our best-practice approach to curation workflow guarantees the best classification and the basis for clinical interpretation of newly identified variants. In addition, as part of our commitment to best practice we ensure that changes in variant classification will be proactively communicated by reclassification reports to all our past clinical cases as well.

We are confident in our decision statements concerning variant pathogenicity within CentoLSD™, which are all based on the combined experience of a dedicated team of geneticists, clinicians, and curation scientists. 

Usage of CentoLSD™ is free, but subject to our terms and conditions, which can be found here.

Further information – Downloads

GBA - Gaucher association

Download

GLA - Fabry association

Download

Training module GBA Gaucher association

Download

Training module GLA Fabry association

Download

GBA variant classification

Download

GLA variant classification

Download

GBA variant reclassification

Download

GLA variant reclassification

Download

GBA variant curation

Download

GLA variant curation

Download

Training module GBA variant classification

Download

Training module GLA variant classification

Download

Training module GBA variant curation

Download

Training module GLA variant curation

Download

Curation of Gaucher cases

Download

Curation of Fabry cases

Download

Training module Gaucher case curation

Download

Training module Fabry case curation

Download

Consent General English

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Consent General Spanish

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Consent General German

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User guide

CentoLSD™ - User guide

Download

Working Groups

About this group

The goal of the Variant Interpretation Working Group is to support the definition and refinement of the ACMG Variant Classification Guidelines at CENTOGENE as applied to variants in GLA and GBA genes. The group is composed of medical experts and scientists with the combined expertise to develop and maintain a consistent, robust classification pipeline.

Download group description


Requirements and qualifications

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Competency record templates

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Prof. Ari Zimran, MD

External: Shaare Zedek Medical Center, Israel

Prof. Ari Zimran was the Founder and the Director of the Gaucher Unit at Shaare Zedek Medical Center in Jerusalem, Israel from 1990 to 2018, and is currently a senior physician at the Unit. This is the world’s largest referral centre for Gaucher disease (GD), where more than 850 patients have been followed, and about 350 patients are treated with enzyme replacement therapy. Prof. Zimran has published more than 320 professional papers and reviews and has edited three books; he has been a leader in clinical trials for new treatments for GD, including Cerezyme™, Zavesca™, VPRIV™, Elelyso™ and Cerdelga™.

Prof. Arndt Rolfs, MD

Prof. Rolfs, founder of CENTOGENE, serves as CEO. He received his approbation (German official license to practice as a doctor) for human medicine from the Universities of Mainz and Vienna in 1985 and was granted a tenure track professorship for clinical neurology in 1997. He has been the Head of the Neurobiological Research Laboratory and Vice-Director of the Neurological Clinic and Outpatient Department at the University of Rostock. Arndt was Director of the Albrecht-Kossel-Institute for Neuroregeneration at the University of Rostock.


Omid Paknia, PhD

Dr. Paknia is the Director of Medical Reporting & Bioinformatics. He received his PhD in Biology from Ulm University. He later worked on population genetics projects at Hannover University.

Florian Vogel, PhD

Dr. Vogel serves as the Senior Vice President Clinical Lab Operations at CENTOGENE. He studied Biology at the University of Erlangen-Nürnberg and received his doctoral degree in Molecular Biology with summa cum laude. Prior to joining CENTOGENE, Florian implemented a genetic quality control division in a biotech company for vaccine vector production.


Indrani Manjunath, MS

Ms. Manjunath is the Supervisor of the Classification Team. She finished her master’s degree in Biomedical Engineering at the Martin Luther University of Halle-Wittenburg in 2018.


About this group

The goal of the Curation Working Group is to develop gene-disease associations for GLA and GBA as well as standardize variant and case curation for individuals tested for Gaucher disease or Fabry disease. Members include medical experts, scientists, and curators with the expertise to create and sustain a consistent, accurate record of test results and clinical information.

Download group description


Competency record templates

Download

Requirements and qualifications

Download


Prof. Mia Horowitz, PhD

External: Tel Aviv University, Israel

Prof. Horowitz graduated from the Weizmann Institute. Following a postdoctoral fellowship at MIT, Massachusetts, USA, she joined the Weizmann Institute. In 1985 she initiated studies aiming at understanding the molecular mechanisms underlying Gaucher disease. In 1990 she moved to Tel Aviv University where she continues her studies on the association between Gaucher disease and Parkinson disease and misfolding in lysosomal diseases, using Drosophila as an animal model.

Prof. Peter Bauer, MD

Prof. Bauer serves as CGO. After studying Medicine in Freiburg and Berlin, Peter worked as a resident in Neurology in Rostock and as a resident in Human Genetics in Tübingen. He received his board certification in Human Genetics in 2006 and served as Head of the Molecular Diagnostic Laboratory at the Institute of Medical Genetics and Applied Genomics at the University Hospital Tübingen.


Aida Bertoli-Avella, MD, PhD

Dr. Bertoli-Avella is the Head of Research Data Analysis. She graduated cum laude from the Institute of Medical Sciences, Santiago de Cuba. She then continued her training as a clinical geneticist at the National Center of Medical Genetics, Havana, Cuba. In 1997, she was awarded a UNESCO fellowship and started her PhD project at the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands. In 2006, she became Principal Investigator of the Cardio-Genetics Group in the Department of Clinical Genetics.

Allison Faber, PhD

Dr. Faber is the Deputy Head of Digital Products. Following completion of a PhD in Physiology at the Medical College of Wisconsin in 2014, her post-doctoral research at the Max Delbruck Center focused on the effects of genetic variation in dilated cardiomyopathy patients.

Select your gene of interest

GBA GLA
GBA
1
NM_000157.3
Gaucher disease
230800
Autosomal recessive
Total variants for selected gene: Total variants for selected gene:
cDNA
change
  i
Protein
change
  i
gDNA
change
  i
Location   i Coding
effect
  i
Clinical
significance
  i
Last
review
  i
Individuals
[Het/Hom]
  i
Internal allele
frequency given at ⨉ 10-3
  i
Loading...
cDNA
change
 i
ic.*33G>TProtein
change
 i
gDNA
change
 i
chrX:g.100652764C>ALocation idownstreamCoding
effect
 i
Non-codingClinical
significance
 i
Likely benignLast
review
 i
06/05/2020Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
chrX:g.100652764C>AdownstreamNon-codingLikely benign06/05/20201 [1/0/0]0.00459
cDNA
change
 i
ic.1000_*18delProtein
change
 i
p.G334_L428delins28gDNA
change
 i
chrX:g.100652779_100653087delLocation iexon 7Coding
effect
 i
In-frameClinical
significance
 i
PathogenicLast
review
 i
05/19/2020Individuals
[Het/Hom]
 i
2 [1/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00919
p.G334_L428delins28chrX:g.100652779_100653087delexon 7In-framePathogenic05/19/20202 [1/0/1]0.00919
cDNA
change
 i
ic.548_*18delProtein
change
 i
p.G183Efs*20gDNA
change
 i
chrX:g.100652779_100655745delLocation ie4_e7Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
02/28/2020Individuals
[Het/Hom]
 i
1 [0/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
p.G183Efs*20chrX:g.100652779_100655745dele4_e7FrameshiftPathogenic02/28/20201 [0/0/1]0.00459
cDNA
change
 i
ic.*13_*14delProtein
change
 i
gDNA
change
 i
chrX:g.100652783_100652784delLocation i3'UTRCoding
effect
 i
Effect unknownClinical
significance
 i
Likely benignLast
review
 i
06/12/2020Individuals
[Het/Hom]
 i
2 [0/2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00919
chrX:g.100652783_100652784del3'UTREffect unknownLikely benign06/12/20202 [0/2/0]0.00919
cDNA
change
 i
ic.*12T>AProtein
change
 i
gDNA
change
 i
chrX:g.100652785A>TLocation i3'UTRCoding
effect
 i
Effect unknownClinical
significance
 i
UncertainLast
review
 i
03/05/2020Individuals
[Het/Hom]
 i
2 [1/1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
chrX:g.100652785A>T3'UTREffect unknownUncertain03/05/20202 [1/1/0]0.00459
cDNA
change
 i
ic.*5T>GProtein
change
 i
gDNA
change
 i
chrX:g.100652792A>CLocation i3'UTRCoding
effect
 i
Effect unknownClinical
significance
 i
UncertainLast
review
 i
06/17/2020Individuals
[Het/Hom]
 i
1 [0/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
chrX:g.100652792A>C3'UTREffect unknownUncertain06/17/20201 [0/0/1]0.00459
cDNA
change
 i
ic.*4G>TProtein
change
 i
gDNA
change
 i
chrX:g.100652793C>ALocation i3'UTRCoding
effect
 i
Effect unknownClinical
significance
 i
UncertainLast
review
 i
06/17/2020Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
chrX:g.100652793C>A3'UTREffect unknownUncertain06/17/20201 [1/0/0]0.00459
cDNA
change
 i
ic.1284_1287delProtein
change
 i
p.L428Ffs*?gDNA
change
 i
chrX:g.100652800_100652803delLocation iexon 7Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
05/30/2020Individuals
[Het/Hom]
 i
2 [0/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.02519
p.L428Ffs*?chrX:g.100652800_100652803delexon 7FrameshiftPathogenic05/30/20202 [0/0/2]0.02519
cDNA
change
 i
ic.1286T>CProtein
change
 i
p.L429PgDNA
change
 i
chrX:g.100652801A>GLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
Likely benignLast
review
 i
06/12/2020Individuals
[Het/Hom]
 i
1 [0/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.01119
p.L429PchrX:g.100652801A>Gexon 7MissenseLikely benign06/12/20201 [0/0/1]0.01119
cDNA
change
 i
ic.1277_1278delProtein
change
 i
p.K426Rfs*?gDNA
change
 i
chrX:g.100652809_100652810delLocation iexon 7Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
12 [8/0/4]Internal allele
frequency given at ⨉ 10-3
 i
0.03079
p.K426Rfs*?chrX:g.100652809_100652810delexon 7FrameshiftPathogenic06/02/202012 [8/0/4]0.03079
cDNA
change
 i
ic.1250T>CProtein
change
 i
p.L417PgDNA
change
 i
chrX:g.100652837A>GLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
05/19/2020Individuals
[Het/Hom]
 i
2 [2/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01399
p.L417PchrX:g.100652837A>Gexon 7MissensePathogenic05/19/20202 [2/0/0]0.01399
cDNA
change
 i
ic.1247A>CProtein
change
 i
p.Q416PgDNA
change
 i
chrX:g.100652840T>GLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/12/2020Individuals
[Het/Hom]
 i
6 [4/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.00280
p.Q416PchrX:g.100652840T>Gexon 7MissensePathogenic06/12/20206 [4/0/2]0.00280
cDNA
change
 i
ic.1246C>TProtein
change
 i
p.Q416XgDNA
change
 i
chrX:g.100652841G>ALocation iexon 7Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
03/13/2020Individuals
[Het/Hom]
 i
2 [1/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.01119
p.Q416XchrX:g.100652841G>Aexon 7NonsensePathogenic03/13/20202 [1/0/1]0.01119
cDNA
change
 i
ic.1244T>CProtein
change
 i
p.L415PgDNA
change
 i
chrX:g.100652843A>GLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
3 [1/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.12318
p.L415PchrX:g.100652843A>Gexon 7MissensePathogenic06/02/20203 [1/0/2]0.12318
cDNA
change
 i
ic.1241T>AProtein
change
 i
p.L414XgDNA
change
 i
chrX:g.100652846A>TLocation iexon 7Coding
effect
 i
NonsenseClinical
significance
 i
UncertainLast
review
 i
06/09/2020Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00280
p.L414XchrX:g.100652846A>Texon 7NonsenseUncertain06/09/20201 [1/0/0]0.00280
cDNA
change
 i
ic.1239T>CProtein
change
 i
p.V413VgDNA
change
 i
chrX:g.100652848A>GLocation iexon 7Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
06/12/2020Individuals
[Het/Hom]
 i
2 [1/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00839
p.V413VchrX:g.100652848A>Gexon 7SilentLikely benign06/12/20202 [1/0/1]0.00839
cDNA
change
 i
ic.1235_1236delProtein
change
 i
p.T412Sfs*?gDNA
change
 i
chrX:g.100652851_100652852delLocation iexon 7Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
31 [20/0/11]Internal allele
frequency given at ⨉ 10-3
 i
0.10638
p.T412Sfs*?chrX:g.100652851_100652852delexon 7FrameshiftPathogenic06/02/202031 [20/0/11]0.10638
cDNA
change
 i
ic.1226C>AProtein
change
 i
p.P409HgDNA
change
 i
chrX:g.100652861G>TLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
03/28/2020Individuals
[Het/Hom]
 i
9 [6/0/3]Internal allele
frequency given at ⨉ 10-3
 i
0.00559
p.P409HchrX:g.100652861G>Texon 7MissensePathogenic03/28/20209 [6/0/3]0.00559
cDNA
change
 i
ic.1215_1216delProtein
change
 i
p.S405Rfs*?gDNA
change
 i
chrX:g.100652871_100652872delLocation iexon 7Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
03/13/2020Individuals
[Het/Hom]
 i
2 [0/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.00559
p.S405Rfs*?chrX:g.100652871_100652872delexon 7FrameshiftPathogenic03/13/20202 [0/0/2]0.00559
cDNA
change
 i
ic.1212_1214delProtein
change
 i
p.R404delgDNA
change
 i
chrX:g.100652873_100652875delLocation iexon 7Coding
effect
 i
In-frameClinical
significance
 i
PathogenicLast
review
 i
05/30/2020Individuals
[Het/Hom]
 i
13 [8/0/5]Internal allele
frequency given at ⨉ 10-3
 i
0.03079
p.R404delchrX:g.100652873_100652875delexon 7In-framePathogenic05/30/202013 [8/0/5]0.03079
cDNA
change
 i
ic.1208delProtein
change
 i
p.L403XgDNA
change
 i
chrX:g.100652879delLocation iexon 7Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
03/14/2020Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
p.L403XchrX:g.100652879delexon 7NonsensePathogenic03/14/20201 [1/0/0]0.00459
cDNA
change
 i
ic.1207T>CProtein
change
 i
p.L403LgDNA
change
 i
chrX:g.100652880A>GLocation iexon 7Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
04/25/2020Individuals
[Het/Hom]
 i
4 [4/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01959
p.L403LchrX:g.100652880A>Gexon 7SilentLikely benign04/25/20204 [4/0/0]0.01959
cDNA
change
 i
ic.1196G>CProtein
change
 i
p.W399SgDNA
change
 i
chrX:g.100652891C>GLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
04/04/2020Individuals
[Het/Hom]
 i
7 [4/0/3]Internal allele
frequency given at ⨉ 10-3
 i
0.02799
p.W399SchrX:g.100652891C>Gexon 7MissensePathogenic04/04/20207 [4/0/3]0.02799
cDNA
change
 i
ic.1196G>AProtein
change
 i
p.W399XgDNA
change
 i
chrX:g.100652891C>TLocation iexon 7Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
5 [3/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.01679
p.W399XchrX:g.100652891C>Texon 7NonsensePathogenic06/02/20205 [3/0/2]0.01679
cDNA
change
 i
ic.1193_1196delProtein
change
 i
p.E398Gfs*5gDNA
change
 i
chrX:g.100652891_100652894delLocation iexon 7Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
02/28/2020Individuals
[Het/Hom]
 i
7 [2/0/5]Internal allele
frequency given at ⨉ 10-3
 i
0.03639
p.E398Gfs*5chrX:g.100652891_100652894delexon 7FrameshiftPathogenic02/28/20207 [2/0/5]0.03639
cDNA
change
 i
ic.1191T>GProtein
change
 i
p.Y397XgDNA
change
 i
chrX:g.100652896A>CLocation iexon 7Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
3 [2/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00280
p.Y397XchrX:g.100652896A>Cexon 7NonsensePathogenic06/02/20203 [2/0/1]0.00280
cDNA
change
 i
ic.1191T>CProtein
change
 i
p.Y397YgDNA
change
 i
chrX:g.100652896A>GLocation iexon 7Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
03/06/2020Individuals
[Het/Hom]
 i
1 [0/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00559
p.Y397YchrX:g.100652896A>Gexon 7SilentLikely benign03/06/20201 [0/0/1]0.00559
cDNA
change
 i
ic.1191T>AProtein
change
 i
p.Y397XgDNA
change
 i
chrX:g.100652896A>TLocation iexon 7Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
02/28/2020Individuals
[Het/Hom]
 i
1 [0/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
p.Y397XchrX:g.100652896A>Texon 7NonsensePathogenic02/28/20201 [0/0/1]0.00459
cDNA
change
 i
ic.1176G>TProtein
change
 i
p.R392SgDNA
change
 i
chrX:g.100652911C>ALocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
06/17/2020Individuals
[Het/Hom]
 i
4 [4/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00559
p.R392SchrX:g.100652911C>Aexon 7MissenseUncertain06/17/20204 [4/0/0]0.00559
cDNA
change
 i
ic.1163_1165delProtein
change
 i
p.L388delgDNA
change
 i
chrX:g.100652922_100652924delLocation iexon 7Coding
effect
 i
In-frameClinical
significance
 i
PathogenicLast
review
 i
06/12/2020Individuals
[Het/Hom]
 i
3 [2/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00839
p.L388delchrX:g.100652922_100652924delexon 7In-framePathogenic06/12/20203 [2/0/1]0.00839
cDNA
change
 i
ic.1156C>TProtein
change
 i
p.Q386XgDNA
change
 i
chrX:g.100652931G>ALocation iexon 7Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
05/30/2020Individuals
[Het/Hom]
 i
11 [10/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.01399
p.Q386XchrX:g.100652931G>Aexon 7NonsensePathogenic05/30/202011 [10/0/1]0.01399
cDNA
change
 i
ic.1153A>GProtein
change
 i
p.T385AgDNA
change
 i
chrX:g.100652934T>CLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
06/17/2020Individuals
[Het/Hom]
 i
25 [13/0/12]Internal allele
frequency given at ⨉ 10-3
 i
0.31355
p.T385AchrX:g.100652934T>Cexon 7MissenseUncertain06/17/202025 [13/0/12]0.31355
cDNA
change
 i
ic.1145G>AProtein
change
 i
p.C382YgDNA
change
 i
chrX:g.100652942C>TLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
03/14/2020Individuals
[Het/Hom]
 i
3 [0/0/3]Internal allele
frequency given at ⨉ 10-3
 i
0.00559
p.C382YchrX:g.100652942C>Texon 7MissensePathogenic03/14/20203 [0/0/3]0.00559
cDNA
change
 i
ic.1141G>CProtein
change
 i
p.A381PgDNA
change
 i
chrX:g.100652946C>GLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
10/09/2019Individuals
[Het/Hom]
 i
1 [0/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
p.A381PchrX:g.100652946C>Gexon 7MissenseUncertain10/09/20191 [0/0/1]0.00459
cDNA
change
 i
ic.1132T>CProtein
change
 i
p.C378RgDNA
change
 i
chrX:g.100652955A>GLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/12/2020Individuals
[Het/Hom]
 i
8 [4/0/4]Internal allele
frequency given at ⨉ 10-3
 i
0.02799
p.C378RchrX:g.100652955A>Gexon 7MissensePathogenic06/12/20208 [4/0/4]0.02799
cDNA
change
 i
ic.1124_1129delProtein
change
 i
p.G375_V376delgDNA
change
 i
chrX:g.100652958_100652963delLocation iexon 7Coding
effect
 i
In-frameClinical
significance
 i
PathogenicLast
review
 i
06/06/2020Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
p.G375_V376delchrX:g.100652958_100652963delexon 7In-framePathogenic06/06/20201 [1/0/0]0.00459
cDNA
change
 i
ic.1124G>CProtein
change
 i
p.G375AgDNA
change
 i
chrX:g.100652963C>GLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
Likely pathogenicLast
review
 i
06/17/2020Individuals
[Het/Hom]
 i
33 [20/0/13]Internal allele
frequency given at ⨉ 10-3
 i
0.16517
p.G375AchrX:g.100652963C>Gexon 7MissenseLikely pathogenic06/17/202033 [20/0/13]0.16517
cDNA
change
 i
ic.1121A>CProtein
change
 i
p.K374TgDNA
change
 i
chrX:g.100652966T>GLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
10/09/2019Individuals
[Het/Hom]
 i
1 [0/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
p.K374TchrX:g.100652966T>Gexon 7MissenseUncertain10/09/20191 [0/0/1]0.00459
cDNA
change
 i
ic.1118G>AProtein
change
 i
p.G373DgDNA
change
 i
chrX:g.100652969C>TLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
03/28/2020Individuals
[Het/Hom]
 i
8 [5/0/3]Internal allele
frequency given at ⨉ 10-3
 i
0.01119
p.G373DchrX:g.100652969C>Texon 7MissensePathogenic03/28/20208 [5/0/3]0.01119
cDNA
change
 i
ic.1090_1103delProtein
change
 i
p.Y365Cfs*5gDNA
change
 i
chrX:g.100652984_100652997delLocation iexon 7Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
02/18/2020Individuals
[Het/Hom]
 i
2 [1/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00839
p.Y365Cfs*5chrX:g.100652984_100652997delexon 7FrameshiftPathogenic02/18/20202 [1/0/1]0.00839
cDNA
change
 i
ic.1102G>AProtein
change
 i
p.A368TgDNA
change
 i
chrX:g.100652985C>TLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
06/17/2020Individuals
[Het/Hom]
 i
100 [76/0/24]Internal allele
frequency given at ⨉ 10-3
 i
0.25476
p.A368TchrX:g.100652985C>Texon 7MissenseUncertain06/17/2020100 [76/0/24]0.25476
cDNA
change
 i
ic.1095T>CProtein
change
 i
p.Y365YgDNA
change
 i
chrX:g.100652992A>GLocation iexon 7Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
06/12/2020Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01679
p.Y365YchrX:g.100652992A>Gexon 7SilentLikely benign06/12/20201 [1/0/0]0.01679
cDNA
change
 i
ic.1088G>AProtein
change
 i
p.R363HgDNA
change
 i
chrX:g.100652999C>TLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
05/30/2020Individuals
[Het/Hom]
 i
44 [28/0/16]Internal allele
frequency given at ⨉ 10-3
 i
0.15677
p.R363HchrX:g.100652999C>Texon 7MissensePathogenic05/30/202044 [28/0/16]0.15677
cDNA
change
 i
ic.1079G>AProtein
change
 i
p.G360DgDNA
change
 i
chrX:g.100653008C>TLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
02/21/2020Individuals
[Het/Hom]
 i
6 [5/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.01679
p.G360DchrX:g.100653008C>Texon 7MissensePathogenic02/21/20206 [5/0/1]0.01679
cDNA
change
 i
ic.1078G>CProtein
change
 i
p.G360RgDNA
change
 i
chrX:g.100653009C>GLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
04/08/2020Individuals
[Het/Hom]
 i
1 [0/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
p.G360RchrX:g.100653009C>Gexon 7MissensePathogenic04/08/20201 [0/0/1]0.00459
cDNA
change
 i
ic.1078G>AProtein
change
 i
p.G360SgDNA
change
 i
chrX:g.100653009C>TLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
03/14/2020Individuals
[Het/Hom]
 i
2 [2/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01399
p.G360SchrX:g.100653009C>Texon 7MissensePathogenic03/14/20202 [2/0/0]0.01399
cDNA
change
 i
ic.1072_1074delProtein
change
 i
p.E358delgDNA
change
 i
chrX:g.100653013_100653015delLocation iexon 7Coding
effect
 i
In-frameClinical
significance
 i
PathogenicLast
review
 i
04/24/2020Individuals
[Het/Hom]
 i
29 [20/0/9]Internal allele
frequency given at ⨉ 10-3
 i
0.12878
p.E358delchrX:g.100653013_100653015delexon 7In-framePathogenic04/24/202029 [20/0/9]0.12878
cDNA
change
 i
ic.1073A>GProtein
change
 i
p.E358GgDNA
change
 i
chrX:g.100653014T>CLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
03/14/2020Individuals
[Het/Hom]
 i
3 [2/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00839
p.E358GchrX:g.100653014T>Cexon 7MissensePathogenic03/14/20203 [2/0/1]0.00839
cDNA
change
 i
ic.1072G>AProtein
change
 i
p.E358KgDNA
change
 i
chrX:g.100653015C>TLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
04/25/2020Individuals
[Het/Hom]
 i
22 [11/0/11]Internal allele
frequency given at ⨉ 10-3
 i
0.02239
p.E358KchrX:g.100653015C>Texon 7MissensePathogenic04/25/202022 [11/0/11]0.02239
cDNA
change
 i
ic.1056_1069delProtein
change
 i
p.M353Gfs*17gDNA
change
 i
chrX:g.100653018_100653031delLocation iexon 7Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
10/23/2019Individuals
[Het/Hom]
 i
2 [1/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00280
p.M353Gfs*17chrX:g.100653018_100653031delexon 7FrameshiftPathogenic10/23/20192 [1/0/1]0.00280
cDNA
change
 i
ic.1067G>CProtein
change
 i
p.R356PgDNA
change
 i
chrX:g.100653020C>GLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
05/30/2020Individuals
[Het/Hom]
 i
3 [2/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00839
p.R356PchrX:g.100653020C>Gexon 7MissensePathogenic05/30/20203 [2/0/1]0.00839
cDNA
change
 i
ic.1067G>AProtein
change
 i
p.R356QgDNA
change
 i
chrX:g.100653020C>TLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/15/2020Individuals
[Het/Hom]
 i
5 [1/0/4]Internal allele
frequency given at ⨉ 10-3
 i
0.02519
p.R356QchrX:g.100653020C>Texon 7MissensePathogenic06/15/20205 [1/0/4]0.02519
cDNA
change
 i
ic.1066C>TProtein
change
 i
p.R356WgDNA
change
 i
chrX:g.100653021G>ALocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
02/21/2020Individuals
[Het/Hom]
 i
52 [37/0/15]Internal allele
frequency given at ⨉ 10-3
 i
0.22396
p.R356WchrX:g.100653021G>Aexon 7MissensePathogenic02/21/202052 [37/0/15]0.22396
cDNA
change
 i
ic.1065C>GProtein
change
 i
p.N355KgDNA
change
 i
chrX:g.100653022G>CLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/12/2020Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
p.N355KchrX:g.100653022G>Cexon 7MissensePathogenic06/12/20201 [1/0/0]0.00459
cDNA
change
 i
ic.1055C>GProtein
change
 i
p.A352GgDNA
change
 i
chrX:g.100653032G>CLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
06/17/2020Individuals
[Het/Hom]
 i
14 [8/1/5]Internal allele
frequency given at ⨉ 10-3
 i
0.33035
p.A352GchrX:g.100653032G>Cexon 7MissenseUncertain06/17/202014 [8/1/5]0.33035
cDNA
change
 i
ic.1051_1052delProtein
change
 i
p.V351Sfs*23gDNA
change
 i
chrX:g.100653035_100653036delLocation iexon 7Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
02/21/2020Individuals
[Het/Hom]
 i
3 [2/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00559
p.V351Sfs*23chrX:g.100653035_100653036delexon 7FrameshiftPathogenic02/21/20203 [2/0/1]0.00559
cDNA
change
 i
ic.1050T>GProtein
change
 i
p.A350AgDNA
change
 i
chrX:g.100653037A>CLocation iexon 7Coding
effect
 i
SilentClinical
significance
 i
UncertainLast
review
 i
09/30/2019Individuals
[Het/Hom]
 i
1 [0/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00559
p.A350AchrX:g.100653037A>Cexon 7SilentUncertain09/30/20191 [0/0/1]0.00559
cDNA
change
 i
ic.1047G>AProtein
change
 i
p.W349XgDNA
change
 i
chrX:g.100653040C>TLocation iexon 7Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
05/30/2020Individuals
[Het/Hom]
 i
14 [9/0/5]Internal allele
frequency given at ⨉ 10-3
 i
0.04759
p.W349XchrX:g.100653040C>Texon 7NonsensePathogenic05/30/202014 [9/0/5]0.04759
cDNA
change
 i
ic.1046G>CProtein
change
 i
p.W349SgDNA
change
 i
chrX:g.100653041C>GLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
03/28/2020Individuals
[Het/Hom]
 i
20 [14/0/6]Internal allele
frequency given at ⨉ 10-3
 i
0.03359
p.W349SchrX:g.100653041C>Gexon 7MissensePathogenic03/28/202020 [14/0/6]0.03359
cDNA
change
 i
ic.1045dupProtein
change
 i
p.W349Lfs*26gDNA
change
 i
chrX:g.100653042dupLocation iexon 7Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
02/21/2020Individuals
[Het/Hom]
 i
9 [7/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.02239
p.W349Lfs*26chrX:g.100653042dupexon 7FrameshiftPathogenic02/21/20209 [7/0/2]0.02239
cDNA
change
 i
ic.1033_1034delProtein
change
 i
p.S345Rfs*29gDNA
change
 i
chrX:g.100653053_100653054delLocation iexon 7Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
03/14/2020Individuals
[Het/Hom]
 i
4 [2/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.01679
p.S345Rfs*29chrX:g.100653053_100653054delexon 7FrameshiftPathogenic03/14/20204 [2/0/2]0.01679
cDNA
change
 i
ic.1028delProtein
change
 i
p.P343Lfs*5gDNA
change
 i
chrX:g.100653059delLocation iexon 7Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
02/21/2020Individuals
[Het/Hom]
 i
5 [4/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00839
p.P343Lfs*5chrX:g.100653059delexon 7FrameshiftPathogenic02/21/20205 [4/0/1]0.00839
cDNA
change
 i
ic.1025G>CProtein
change
 i
p.R342PgDNA
change
 i
chrX:g.100653062C>GLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
14 [8/0/6]Internal allele
frequency given at ⨉ 10-3
 i
0.01399
p.R342PchrX:g.100653062C>Gexon 7MissensePathogenic06/02/202014 [8/0/6]0.01399
cDNA
change
 i
ic.1025G>AProtein
change
 i
p.R342QgDNA
change
 i
chrX:g.100653062C>TLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
05/30/2020Individuals
[Het/Hom]
 i
56 [31/0/25]Internal allele
frequency given at ⨉ 10-3
 i
0.14277
p.R342QchrX:g.100653062C>Texon 7MissensePathogenic05/30/202056 [31/0/25]0.14277
cDNA
change
 i
ic.1024C>TProtein
change
 i
p.R342XgDNA
change
 i
chrX:g.100653063G>ALocation iexon 7Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
05/30/2020Individuals
[Het/Hom]
 i
43 [26/0/17]Internal allele
frequency given at ⨉ 10-3
 i
0.20437
p.R342XchrX:g.100653063G>Aexon 7NonsensePathogenic05/30/202043 [26/0/17]0.20437
cDNA
change
 i
ic.1021dupProtein
change
 i
p.E341Gfs*34gDNA
change
 i
chrX:g.100653066dupLocation iexon 7Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
03/28/2020Individuals
[Het/Hom]
 i
3 [3/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01379
p.E341Gfs*34chrX:g.100653066dupexon 7FrameshiftPathogenic03/28/20203 [3/0/0]0.01379
cDNA
change
 i
ic.1019G>AProtein
change
 i
p.W340XgDNA
change
 i
chrX:g.100653068C>TLocation iexon 7Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
05/30/2020Individuals
[Het/Hom]
 i
10 [8/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.02519
p.W340XchrX:g.100653068C>Texon 7NonsensePathogenic05/30/202010 [8/0/2]0.02519
cDNA
change
 i
ic.1016T>CProtein
change
 i
p.V339AgDNA
change
 i
chrX:g.100653071A>GLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
Likely pathogenicLast
review
 i
06/09/2020Individuals
[Het/Hom]
 i
5 [3/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.01679
p.V339AchrX:g.100653071A>Gexon 7MissenseLikely pathogenic06/09/20205 [3/0/2]0.01679
cDNA
change
 i
ic.1000-1G>AProtein
change
 i
gDNA
change
 i
chrX:g.100653088C>TLocation iintron 6Coding
effect
 i
Splicing mutationClinical
significance
 i
PathogenicLast
review
 i
05/30/2020Individuals
[Het/Hom]
 i
3 [1/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.01119
chrX:g.100653088C>Tintron 6Splicing mutationPathogenic05/30/20203 [1/0/2]0.01119
cDNA
change
 i
ic.1000-6T>CProtein
change
 i
gDNA
change
 i
chrX:g.100653093A>GLocation iintron 6Coding
effect
 i
Splicing mutationClinical
significance
 i
Likely benignLast
review
 i
05/13/2020Individuals
[Het/Hom]
 i
2 [1/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.01119
chrX:g.100653093A>Gintron 6Splicing mutationLikely benign05/13/20202 [1/0/1]0.01119
cDNA
change
 i
ic.1000-10G>AProtein
change
 i
gDNA
change
 i
chrX:g.100653097C>TLocation iintron 6Coding
effect
 i
Splicing mutationClinical
significance
 i
PathogenicLast
review
 i
03/28/2020Individuals
[Het/Hom]
 i
9 [5/0/4]Internal allele
frequency given at ⨉ 10-3
 i
0.01679
chrX:g.100653097C>Tintron 6Splicing mutationPathogenic03/28/20209 [5/0/4]0.01679
cDNA
change
 i
ic.1000-22C>TProtein
change
 i
gDNA
change
 i
chrX:g.100653109G>ALocation iintron 6Coding
effect
 i
Effect unknownClinical
significance
 i
BenignLast
review
 i
06/12/2020Individuals
[Het/Hom]
 i
35421 [22180/4637/8604]Internal allele
frequency given at ⨉ 10-3
 i
241.66284
chrX:g.100653109G>Aintron 6Effect unknownBenign06/12/202035421 [22180/4637/8604]241.66284
cDNA
change
 i
ic.1000-33T>CProtein
change
 i
gDNA
change
 i
chrX:g.100653120A>GLocation iintron 6Coding
effect
 i
Effect unknownClinical
significance
 i
UncertainLast
review
 i
11/29/2019Individuals
[Het/Hom]
 i
1 [0/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
chrX:g.100653120A>Gintron 6Effect unknownUncertain11/29/20191 [0/0/1]0.00459
cDNA
change
 i
ic.1000-51_1000-50delProtein
change
 i
gDNA
change
 i
chrX:g.100653137_100653138delLocation iintron 6Coding
effect
 i
Effect unknownClinical
significance
 i
UncertainLast
review
 i
03/05/2020Individuals
[Het/Hom]
 i
2 [2/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01379
chrX:g.100653137_100653138delintron 6Effect unknownUncertain03/05/20202 [2/0/0]0.01379
cDNA
change
 i
ic.1000-55_1000-52delProtein
change
 i
gDNA
change
 i
chrX:g.100653139_100653142delLocation iintron 6Coding
effect
 i
Effect unknownClinical
significance
 i
BenignLast
review
 i
06/17/2020Individuals
[Het/Hom]
 i
264 [178/3/83]Internal allele
frequency given at ⨉ 10-3
 i
4.27605
chrX:g.100653139_100653142delintron 6Effect unknownBenign06/17/2020264 [178/3/83]4.27605
cDNA
change
 i
ic.1000-59A>CProtein
change
 i
gDNA
change
 i
chrX:g.100653146T>GLocation iintron 6Coding
effect
 i
Effect unknownClinical
significance
 i
Likely benignLast
review
 i
04/25/2020Individuals
[Het/Hom]
 i
2 [0/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.00919
chrX:g.100653146T>Gintron 6Effect unknownLikely benign04/25/20202 [0/0/2]0.00919
cDNA
change
 i
ic.999+84C>AProtein
change
 i
gDNA
change
 i
chrX:g.100653274G>TLocation iintron 6Coding
effect
 i
Effect unknownClinical
significance
 i
Likely benignLast
review
 i
04/25/2020Individuals
[Het/Hom]
 i
5 [4/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.02369
chrX:g.100653274G>Tintron 6Effect unknownLikely benign04/25/20205 [4/0/1]0.02369
cDNA
change
 i
ic.999+68C>GProtein
change
 i
gDNA
change
 i
chrX:g.100653290G>CLocation iintron 6Coding
effect
 i
Effect unknownClinical
significance
 i
Likely benignLast
review
 i
04/24/2020Individuals
[Het/Hom]
 i
8 [8/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.07574
chrX:g.100653290G>Cintron 6Effect unknownLikely benign04/24/20208 [8/0/0]0.07574
cDNA
change
 i
ic.999+39C>GProtein
change
 i
gDNA
change
 i
chrX:g.100653319G>CLocation iintron 6Coding
effect
 i
Effect unknownClinical
significance
 i
UncertainLast
review
 i
10/02/2019Individuals
[Het/Hom]
 i
2 [2/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00280
chrX:g.100653319G>Cintron 6Effect unknownUncertain10/02/20192 [2/0/0]0.00280
cDNA
change
 i
ic.994delProtein
change
 i
p.R332Dfs*16gDNA
change
 i
chrX:g.100653363delLocation iexon 6Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
06/08/2020Individuals
[Het/Hom]
 i
2 [2/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00919
p.R332Dfs*16chrX:g.100653363delexon 6FrameshiftPathogenic06/08/20202 [2/0/0]0.00919
cDNA
change
 i
ic.989A>GProtein
change
 i
p.Q330RgDNA
change
 i
chrX:g.100653368T>CLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
Likely pathogenicLast
review
 i
06/17/2020Individuals
[Het/Hom]
 i
1 [0/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.01119
p.Q330RchrX:g.100653368T>Cexon 6MissenseLikely pathogenic06/17/20201 [0/0/1]0.01119
cDNA
change
 i
ic.983G>TProtein
change
 i
p.G328VgDNA
change
 i
chrX:g.100653374C>ALocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
03/14/2020Individuals
[Het/Hom]
 i
9 [7/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.01679
p.G328VchrX:g.100653374C>Aexon 6MissensePathogenic03/14/20209 [7/0/2]0.01679
cDNA
change
 i
ic.983G>CProtein
change
 i
p.G328AgDNA
change
 i
chrX:g.100653374C>GLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
03/06/2020Individuals
[Het/Hom]
 i
3 [1/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.00559
p.G328AchrX:g.100653374C>Gexon 6MissensePathogenic03/06/20203 [1/0/2]0.00559
cDNA
change
 i
ic.982G>CProtein
change
 i
p.G328RgDNA
change
 i
chrX:g.100653375C>GLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
05/30/2020Individuals
[Het/Hom]
 i
15 [9/0/6]Internal allele
frequency given at ⨉ 10-3
 i
0.02239
p.G328RchrX:g.100653375C>Gexon 6MissensePathogenic05/30/202015 [9/0/6]0.02239
cDNA
change
 i
ic.980A>TProtein
change
 i
p.Q327LgDNA
change
 i
chrX:g.100653377T>ALocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
03/14/2020Individuals
[Het/Hom]
 i
1 [0/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00559
p.Q327LchrX:g.100653377T>Aexon 6MissensePathogenic03/14/20201 [0/0/1]0.00559
cDNA
change
 i
ic.978G>AProtein
change
 i
p.K326KgDNA
change
 i
chrX:g.100653379C>TLocation iexon 6Coding
effect
 i
SilentClinical
significance
 i
BenignLast
review
 i
06/12/2020Individuals
[Het/Hom]
 i
115 [102/0/13]Internal allele
frequency given at ⨉ 10-3
 i
0.55431
p.K326KchrX:g.100653379C>Texon 6SilentBenign06/12/2020115 [102/0/13]0.55431
cDNA
change
 i
ic.973G>AProtein
change
 i
p.G325SgDNA
change
 i
chrX:g.100653384C>TLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
03/16/2020Individuals
[Het/Hom]
 i
6 [3/0/3]Internal allele
frequency given at ⨉ 10-3
 i
0.03919
p.G325SchrX:g.100653384C>Texon 6MissensePathogenic03/16/20206 [3/0/3]0.03919
cDNA
change
 i
ic.971T>AProtein
change
 i
p.L324XgDNA
change
 i
chrX:g.100653386A>TLocation iexon 6Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
03/28/2020Individuals
[Het/Hom]
 i
4 [3/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00559
p.L324XchrX:g.100653386A>Texon 6NonsensePathogenic03/28/20204 [3/0/1]0.00559
cDNA
change
 i
ic.968C>GProtein
change
 i
p.P323RgDNA
change
 i
chrX:g.100653389G>CLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
06/17/2020Individuals
[Het/Hom]
 i
6 [5/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00839
p.P323RchrX:g.100653389G>Cexon 6MissenseUncertain06/17/20206 [5/0/1]0.00839
cDNA
change
 i
ic.967C>AProtein
change
 i
p.P323TgDNA
change
 i
chrX:g.100653390G>TLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
06/11/2020Individuals
[Het/Hom]
 i
35 [29/0/6]Internal allele
frequency given at ⨉ 10-3
 i
0.14557
p.P323TchrX:g.100653390G>Texon 6MissenseUncertain06/11/202035 [29/0/6]0.14557
cDNA
change
 i
ic.966C>AProtein
change
 i
p.D322EgDNA
change
 i
chrX:g.100653391G>TLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
05/30/2020Individuals
[Het/Hom]
 i
5 [2/0/3]Internal allele
frequency given at ⨉ 10-3
 i
0.02239
p.D322EchrX:g.100653391G>Texon 6MissensePathogenic05/30/20205 [2/0/3]0.02239
cDNA
change
 i
ic.946_966delProtein
change
 i
p.V316_D322delgDNA
change
 i
chrX:g.100653391_100653411delLocation iexon 6Coding
effect
 i
In-frameClinical
significance
 i
PathogenicLast
review
 i
03/16/2020Individuals
[Het/Hom]
 i
2 [1/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00280
p.V316_D322delchrX:g.100653391_100653411delexon 6In-framePathogenic03/16/20202 [1/0/1]0.00280
cDNA
change
 i
ic.963_964delinsCAProtein
change
 i
p.Q321_D322delinsHNgDNA
change
 i
chrX:g.100653393_100653394delinsTGLocation iexon 6Coding
effect
 i
In-frameClinical
significance
 i
PathogenicLast
review
 i
02/28/2020Individuals
[Het/Hom]
 i
3 [2/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.01119
p.Q321_D322delinsHNchrX:g.100653393_100653394delinsTGexon 6In-framePathogenic02/28/20203 [2/0/1]0.01119
cDNA
change
 i
ic.959A>TProtein
change
 i
p.N320IgDNA
change
 i
chrX:g.100653398T>ALocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/08/2020Individuals
[Het/Hom]
 i
9 [7/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.01959
p.N320IchrX:g.100653398T>Aexon 6MissensePathogenic06/08/20209 [7/0/2]0.01959
cDNA
change
 i
ic.950T>GProtein
change
 i
p.I317SgDNA
change
 i
chrX:g.100653407A>CLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
05/30/2020Individuals
[Het/Hom]
 i
6 [5/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.02758
p.I317SchrX:g.100653407A>Cexon 6MissensePathogenic05/30/20206 [5/0/1]0.02758
cDNA
change
 i
ic.947T>CProtein
change
 i
p.V316AgDNA
change
 i
chrX:g.100653410A>GLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
Likely pathogenicLast
review
 i
06/09/2020Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00280
p.V316AchrX:g.100653410A>Gexon 6MissenseLikely pathogenic06/09/20201 [1/0/0]0.00280
cDNA
change
 i
ic.947dupProtein
change
 i
p.I317Nfs*16gDNA
change
 i
chrX:g.100653410dupLocation iexon 6Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
05/30/2020Individuals
[Het/Hom]
 i
6 [4/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.01959
p.I317Nfs*16chrX:g.100653410dupexon 6FrameshiftPathogenic05/30/20206 [4/0/2]0.01959
cDNA
change
 i
ic.946G>AProtein
change
 i
p.V316IgDNA
change
 i
chrX:g.100653411C>TLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
06/08/2020Individuals
[Het/Hom]
 i
2 [1/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.01119
p.V316IchrX:g.100653411C>Texon 6MissenseUncertain06/08/20202 [1/0/1]0.01119
cDNA
change
 i
ic.946delProtein
change
 i
p.V316XgDNA
change
 i
chrX:g.100653411delLocation iexon 6Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
05/30/2020Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00559
p.V316XchrX:g.100653411delexon 6NonsensePathogenic05/30/20201 [1/0/0]0.00559
cDNA
change
 i
ic.945C>TProtein
change
 i
p.D315DgDNA
change
 i
chrX:g.100653412G>ALocation iexon 6Coding
effect
 i
SilentClinical
significance
 i
BenignLast
review
 i
04/24/2020Individuals
[Het/Hom]
 i
30 [22/0/8]Internal allele
frequency given at ⨉ 10-3
 i
0.12878
p.D315DchrX:g.100653412G>Aexon 6SilentBenign04/24/202030 [22/0/8]0.12878
cDNA
change
 i
ic.937G>TProtein
change
 i
p.D313YgDNA
change
 i
chrX:g.100653420C>ALocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
BenignLast
review
 i
06/11/2020Individuals
[Het/Hom]
 i
1526 [1031/9/486]Internal allele
frequency given at ⨉ 10-3
 i
7.27891
p.D313YchrX:g.100653420C>Aexon 6MissenseBenign06/11/20201526 [1031/9/486]7.27891
cDNA
change
 i
ic.937G>AProtein
change
 i
p.D313NgDNA
change
 i
chrX:g.100653420C>TLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
06/17/2020Individuals
[Het/Hom]
 i
14 [12/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.03639
p.D313NchrX:g.100653420C>Texon 6MissenseUncertain06/17/202014 [12/0/2]0.03639
cDNA
change
 i
ic.931C>TProtein
change
 i
p.L311FgDNA
change
 i
chrX:g.100653426G>ALocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/08/2020Individuals
[Het/Hom]
 i
6 [4/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.01959
p.L311FchrX:g.100653426G>Aexon 6MissensePathogenic06/08/20206 [4/0/2]0.01959
cDNA
change
 i
ic.926C>TProtein
change
 i
p.A309VgDNA
change
 i
chrX:g.100653431G>ALocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
06/15/2020Individuals
[Het/Hom]
 i
2 [1/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00280
p.A309VchrX:g.100653431G>Aexon 6MissenseUncertain06/15/20202 [1/0/1]0.00280
cDNA
change
 i
ic.920C>TProtein
change
 i
p.A307VgDNA
change
 i
chrX:g.100653437G>ALocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
05/13/2020Individuals
[Het/Hom]
 i
7 [6/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00280
p.A307VchrX:g.100653437G>Aexon 6MissenseUncertain05/13/20207 [6/0/1]0.00280
cDNA
change
 i
ic.914delProtein
change
 i
p.P305Lfs*12gDNA
change
 i
chrX:g.100653443delLocation iexon 6Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
03/16/2020Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01959
p.P305Lfs*12chrX:g.100653443delexon 6FrameshiftPathogenic03/16/20201 [1/0/0]0.01959
cDNA
change
 i
ic.907A>TProtein
change
 i
p.I303FgDNA
change
 i
chrX:g.100653450T>ALocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
03/16/2020Individuals
[Het/Hom]
 i
3 [0/0/3]Internal allele
frequency given at ⨉ 10-3
 i
0.00559
p.I303FchrX:g.100653450T>Aexon 6MissensePathogenic03/16/20203 [0/0/3]0.00559
cDNA
change
 i
ic.902G>AProtein
change
 i
p.R301QgDNA
change
 i
chrX:g.100653455C>TLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
05/13/2020Individuals
[Het/Hom]
 i
32 [16/0/16]Internal allele
frequency given at ⨉ 10-3
 i
0.39474
p.R301QchrX:g.100653455C>Texon 6MissensePathogenic05/13/202032 [16/0/16]0.39474
cDNA
change
 i
ic.901C>TProtein
change
 i
p.R301XgDNA
change
 i
chrX:g.100653456G>ALocation iexon 6Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
05/30/2020Individuals
[Het/Hom]
 i
22 [10/0/12]Internal allele
frequency given at ⨉ 10-3
 i
0.10638
p.R301XchrX:g.100653456G>Aexon 6NonsensePathogenic05/30/202022 [10/0/12]0.10638
cDNA
change
 i
ic.894T>CProtein
change
 i
p.N298NgDNA
change
 i
chrX:g.100653463A>GLocation iexon 6Coding
effect
 i
SilentClinical
significance
 i
BenignLast
review
 i
04/25/2020Individuals
[Het/Hom]
 i
4 [3/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.03359
p.N298NchrX:g.100653463A>Gexon 6SilentBenign04/25/20204 [3/0/1]0.03359
cDNA
change
 i
ic.891dupProtein
change
 i
p.N298XgDNA
change
 i
chrX:g.100653466dupLocation iexon 6Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
09/12/2019Individuals
[Het/Hom]
 i
1 [0/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.01679
p.N298XchrX:g.100653466dupexon 6NonsensePathogenic09/12/20191 [0/0/1]0.01679
cDNA
change
 i
ic.890C>GProtein
change
 i
p.S297CgDNA
change
 i
chrX:g.100653467G>CLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
05/30/2020Individuals
[Het/Hom]
 i
3 [1/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.00559
p.S297CchrX:g.100653467G>Cexon 6MissensePathogenic05/30/20203 [1/0/2]0.00559
cDNA
change
 i
ic.887T>CProtein
change
 i
p.M296TgDNA
change
 i
chrX:g.100653470A>GLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
05/30/2020Individuals
[Het/Hom]
 i
5 [2/0/3]Internal allele
frequency given at ⨉ 10-3
 i
0.01679
p.M296TchrX:g.100653470A>Gexon 6MissensePathogenic05/30/20205 [2/0/3]0.01679
cDNA
change
 i
ic.877C>TProtein
change
 i
p.P293SgDNA
change
 i
chrX:g.100653480G>ALocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/08/2020Individuals
[Het/Hom]
 i
2 [1/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00919
p.P293SchrX:g.100653480G>Aexon 6MissensePathogenic06/08/20202 [1/0/1]0.00919
cDNA
change
 i
ic.875C>TProtein
change
 i
p.A292VgDNA
change
 i
chrX:g.100653482G>ALocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/08/2020Individuals
[Het/Hom]
 i
3 [1/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.00839
p.A292VchrX:g.100653482G>Aexon 6MissensePathogenic06/08/20203 [1/0/2]0.00839
cDNA
change
 i
ic.871G>AProtein
change
 i
p.A291TgDNA
change
 i
chrX:g.100653486C>TLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
05/30/2020Individuals
[Het/Hom]
 i
7 [5/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.01679
p.A291TchrX:g.100653486C>Texon 6MissensePathogenic05/30/20207 [5/0/2]0.01679
cDNA
change
 i
ic.870G>CProtein
change
 i
p.M290IgDNA
change
 i
chrX:g.100653487C>GLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/09/2020Individuals
[Het/Hom]
 i
40 [22/0/18]Internal allele
frequency given at ⨉ 10-3
 i
0.09238
p.M290IchrX:g.100653487C>Gexon 6MissensePathogenic06/09/202040 [22/0/18]0.09238
cDNA
change
 i
ic.868A>CProtein
change
 i
p.M290LgDNA
change
 i
chrX:g.100653489T>GLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/15/2020Individuals
[Het/Hom]
 i
7 [2/0/5]Internal allele
frequency given at ⨉ 10-3
 i
0.03079
p.M290LchrX:g.100653489T>Gexon 6MissensePathogenic06/15/20207 [2/0/5]0.03079
cDNA
change
 i
ic.865A>GProtein
change
 i
p.I289VgDNA
change
 i
chrX:g.100653492T>CLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
BenignLast
review
 i
06/17/2020Individuals
[Het/Hom]
 i
23 [19/0/4]Internal allele
frequency given at ⨉ 10-3
 i
0.03359
p.I289VchrX:g.100653492T>Cexon 6MissenseBenign06/17/202023 [19/0/4]0.03359
cDNA
change
 i
ic.863C>AProtein
change
 i
p.A288DgDNA
change
 i
chrX:g.100653494G>TLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
2 [1/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.02239
p.A288DchrX:g.100653494G>Texon 6MissensePathogenic06/02/20202 [1/0/1]0.02239
cDNA
change
 i
ic.861G>AProtein
change
 i
p.W287XgDNA
change
 i
chrX:g.100653496C>TLocation iexon 6Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
5 [4/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.02239
p.W287XchrX:g.100653496C>Texon 6NonsensePathogenic06/02/20205 [4/0/1]0.02239
cDNA
change
 i
ic.858C>TProtein
change
 i
p.L286LgDNA
change
 i
chrX:g.100653499G>ALocation iexon 6Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
09/30/2019Individuals
[Het/Hom]
 i
11 [9/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.04759
p.L286LchrX:g.100653499G>Aexon 6SilentLikely benign09/30/201911 [9/0/2]0.04759
cDNA
change
 i
ic.838_849delProtein
change
 i
p.Q280_Q283delgDNA
change
 i
chrX:g.100653508_100653519delLocation iexon 6Coding
effect
 i
In-frameClinical
significance
 i
PathogenicLast
review
 i
03/28/2020Individuals
[Het/Hom]
 i
4 [2/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.01119
p.Q280_Q283delchrX:g.100653508_100653519delexon 6In-framePathogenic03/28/20204 [2/0/2]0.01119
cDNA
change
 i
ic.826A>GProtein
change
 i
p.S276GgDNA
change
 i
chrX:g.100653531T>CLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
16 [10/0/6]Internal allele
frequency given at ⨉ 10-3
 i
0.03639
p.S276GchrX:g.100653531T>Cexon 6MissensePathogenic06/02/202016 [10/0/6]0.03639
cDNA
change
 i
ic.824T>AProtein
change
 i
p.L275HgDNA
change
 i
chrX:g.100653533A>TLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
p.L275HchrX:g.100653533A>Texon 6MissensePathogenic06/02/20201 [1/0/0]0.00459
cDNA
change
 i
ic.812G>CProtein
change
 i
p.G271AgDNA
change
 i
chrX:g.100653545C>GLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
02/21/2020Individuals
[Het/Hom]
 i
19 [10/0/9]Internal allele
frequency given at ⨉ 10-3
 i
0.02239
p.G271AchrX:g.100653545C>Gexon 6MissensePathogenic02/21/202019 [10/0/9]0.02239
cDNA
change
 i
ic.806T>GProtein
change
 i
p.V269GgDNA
change
 i
chrX:g.100653551A>CLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
5 [2/0/3]Internal allele
frequency given at ⨉ 10-3
 i
0.00839
p.V269GchrX:g.100653551A>Cexon 6MissensePathogenic06/02/20205 [2/0/3]0.00839
cDNA
change
 i
ic.806T>CProtein
change
 i
p.V269AgDNA
change
 i
chrX:g.100653551A>GLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
4 [3/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.01679
p.V269AchrX:g.100653551A>Gexon 6MissensePathogenic06/02/20204 [3/0/1]0.01679
cDNA
change
 i
ic.803_806delProtein
change
 i
p.L268XgDNA
change
 i
chrX:g.100653551_100653554delLocation iexon 6Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
16 [10/0/6]Internal allele
frequency given at ⨉ 10-3
 i
0.04199
p.L268XchrX:g.100653551_100653554delexon 6NonsensePathogenic06/02/202016 [10/0/6]0.04199
cDNA
change
 i
ic.805G>AProtein
change
 i
p.V269MgDNA
change
 i
chrX:g.100653552C>TLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
66 [45/0/21]Internal allele
frequency given at ⨉ 10-3
 i
0.09238
p.V269MchrX:g.100653552C>Texon 6MissensePathogenic06/02/202066 [45/0/21]0.09238
cDNA
change
 i
ic.802-3_802-2delProtein
change
 i
gDNA
change
 i
chrX:g.100653557_100653558delLocation iintron 5Coding
effect
 i
Splicing mutationClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
7 [3/0/4]Internal allele
frequency given at ⨉ 10-3
 i
0.06439
chrX:g.100653557_100653558delintron 5Splicing mutationPathogenic06/02/20207 [3/0/4]0.06439
cDNA
change
 i
ic.802-6T>AProtein
change
 i
gDNA
change
 i
chrX:g.100653561A>TLocation iintron 5Coding
effect
 i
Splicing mutationClinical
significance
 i
UncertainLast
review
 i
03/06/2020Individuals
[Het/Hom]
 i
2 [2/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00559
chrX:g.100653561A>Tintron 5Splicing mutationUncertain03/06/20202 [2/0/0]0.00559
cDNA
change
 i
ic.802-30_802-29delProtein
change
 i
gDNA
change
 i
chrX:g.100653584_100653585delLocation iintron 5Coding
effect
 i
Effect unknownClinical
significance
 i
Likely benignLast
review
 i
04/24/2020Individuals
[Het/Hom]
 i
20 [18/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.08165
chrX:g.100653584_100653585delintron 5Effect unknownLikely benign04/24/202020 [18/0/2]0.08165
cDNA
change
 i
ic.802-42T>CProtein
change
 i
gDNA
change
 i
chrX:g.100653597A>GLocation iintron 5Coding
effect
 i
Effect unknownClinical
significance
 i
UncertainLast
review
 i
04/14/2020Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.02534
chrX:g.100653597A>Gintron 5Effect unknownUncertain04/14/20201 [1/0/0]0.02534
cDNA
change
 i
ic.802-84A>GProtein
change
 i
gDNA
change
 i
chrX:g.100653639T>CLocation iintron 5Coding
effect
 i
Effect unknownClinical
significance
 i
UncertainLast
review
 i
10/02/2019Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
chrX:g.100653639T>Cintron 5Effect unknownUncertain10/02/20191 [1/0/0]0.00459
cDNA
change
 i
ic.802-101A>GProtein
change
 i
gDNA
change
 i
chrX:g.100653656T>CLocation iintron 5Coding
effect
 i
Effect unknownClinical
significance
 i
UncertainLast
review
 i
12/09/2019Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
chrX:g.100653656T>Cintron 5Effect unknownUncertain12/09/20191 [1/0/0]0.00459
cDNA
change
 i
ic.801+102T>CProtein
change
 i
gDNA
change
 i
chrX:g.100653671A>GLocation iintron 5Coding
effect
 i
Effect unknownClinical
significance
 i
Likely benignLast
review
 i
04/25/2020Individuals
[Het/Hom]
 i
1 [0/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
chrX:g.100653671A>Gintron 5Effect unknownLikely benign04/25/20201 [0/0/1]0.00459
cDNA
change
 i
ic.801+84T>GProtein
change
 i
gDNA
change
 i
chrX:g.100653689A>CLocation iintron 5Coding
effect
 i
Effect unknownClinical
significance
 i
UncertainLast
review
 i
12/09/2019Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
chrX:g.100653689A>Cintron 5Effect unknownUncertain12/09/20191 [1/0/0]0.00459
cDNA
change
 i
ic.801+75A>GProtein
change
 i
gDNA
change
 i
chrX:g.100653698T>CLocation iintron 5Coding
effect
 i
Effect unknownClinical
significance
 i
UncertainLast
review
 i
03/05/2020Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
chrX:g.100653698T>Cintron 5Effect unknownUncertain03/05/20201 [1/0/0]0.00459
cDNA
change
 i
ic.801+74C>AProtein
change
 i
gDNA
change
 i
chrX:g.100653699G>TLocation iintron 5Coding
effect
 i
Effect unknownClinical
significance
 i
UncertainLast
review
 i
12/09/2019Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
chrX:g.100653699G>Tintron 5Effect unknownUncertain12/09/20191 [1/0/0]0.00459
cDNA
change
 i
ic.801+72T>GProtein
change
 i
gDNA
change
 i
chrX:g.100653701A>CLocation iintron 5Coding
effect
 i
Effect unknownClinical
significance
 i
UncertainLast
review
 i
12/09/2019Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
chrX:g.100653701A>Cintron 5Effect unknownUncertain12/09/20191 [1/0/0]0.00459
cDNA
change
 i
ic.801+66G>AProtein
change
 i
gDNA
change
 i
chrX:g.100653707C>TLocation iintron 5Coding
effect
 i
Effect unknownClinical
significance
 i
Likely benignLast
review
 i
04/25/2020Individuals
[Het/Hom]
 i
4 [3/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.01838
chrX:g.100653707C>Tintron 5Effect unknownLikely benign04/25/20204 [3/0/1]0.01838
cDNA
change
 i
ic.801+64A>GProtein
change
 i
gDNA
change
 i
chrX:g.100653709T>CLocation iintron 5Coding
effect
 i
Effect unknownClinical
significance
 i
UncertainLast
review
 i
12/09/2019Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
chrX:g.100653709T>Cintron 5Effect unknownUncertain12/09/20191 [1/0/0]0.00459
cDNA
change
 i
ic.801+42C>TProtein
change
 i
gDNA
change
 i
chrX:g.100653731G>ALocation iintron 5Coding
effect
 i
Effect unknownClinical
significance
 i
UncertainLast
review
 i
12/09/2019Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
chrX:g.100653731G>Aintron 5Effect unknownUncertain12/09/20191 [1/0/0]0.00459
cDNA
change
 i
ic.801+36G>AProtein
change
 i
gDNA
change
 i
chrX:g.100653737C>TLocation iintron 5Coding
effect
 i
Effect unknownClinical
significance
 i
UncertainLast
review
 i
12/09/2019Individuals
[Het/Hom]
 i
34 [27/0/7]Internal allele
frequency given at ⨉ 10-3
 i
0.14922
chrX:g.100653737C>Tintron 5Effect unknownUncertain12/09/201934 [27/0/7]0.14922
cDNA
change
 i
ic.801+14C>TProtein
change
 i
gDNA
change
 i
chrX:g.100653759G>ALocation iintron 5Coding
effect
 i
Effect unknownClinical
significance
 i
BenignLast
review
 i
04/24/2020Individuals
[Het/Hom]
 i
3 [3/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.06999
chrX:g.100653759G>Aintron 5Effect unknownBenign04/24/20203 [3/0/0]0.06999
cDNA
change
 i
ic.801+11G>CProtein
change
 i
gDNA
change
 i
chrX:g.100653762C>GLocation iintron 5Coding
effect
 i
Effect unknownClinical
significance
 i
Likely benignLast
review
 i
04/25/2020Individuals
[Het/Hom]
 i
1 [0/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.03079
chrX:g.100653762C>Gintron 5Effect unknownLikely benign04/25/20201 [0/0/1]0.03079
cDNA
change
 i
ic.801G>AProtein
change
 i
p.M267IgDNA
change
 i
chrX:g.100653773C>TLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
6 [5/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00280
p.M267IchrX:g.100653773C>Texon 5MissensePathogenic06/02/20206 [5/0/1]0.00280
cDNA
change
 i
ic.800T>CProtein
change
 i
p.M267TgDNA
change
 i
chrX:g.100653774A>GLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/15/2020Individuals
[Het/Hom]
 i
11 [5/0/6]Internal allele
frequency given at ⨉ 10-3
 i
0.03919
p.M267TchrX:g.100653774A>Gexon 5MissensePathogenic06/15/202011 [5/0/6]0.03919
cDNA
change
 i
ic.790G>TProtein
change
 i
p.D264YgDNA
change
 i
chrX:g.100653784C>ALocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
36 [21/1/14]Internal allele
frequency given at ⨉ 10-3
 i
0.04199
p.D264YchrX:g.100653784C>Aexon 5MissensePathogenic06/02/202036 [21/1/14]0.04199
cDNA
change
 i
ic.788A>GProtein
change
 i
p.N263SgDNA
change
 i
chrX:g.100653786T>CLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
3 [2/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.01379
p.N263SchrX:g.100653786T>Cexon 5MissensePathogenic06/02/20203 [2/0/1]0.01379
cDNA
change
 i
ic.786G>CProtein
change
 i
p.W262CgDNA
change
 i
chrX:g.100653788C>GLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
3 [3/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01379
p.W262CchrX:g.100653788C>Gexon 5MissensePathogenic06/02/20203 [3/0/0]0.01379
cDNA
change
 i
ic.785G>TProtein
change
 i
p.W262LgDNA
change
 i
chrX:g.100653789C>ALocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00280
p.W262LchrX:g.100653789C>Aexon 5MissensePathogenic06/02/20201 [1/0/0]0.00280
cDNA
change
 i
ic.785G>AProtein
change
 i
p.W262XgDNA
change
 i
chrX:g.100653789C>TLocation iexon 5Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
7 [5/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.01399
p.W262XchrX:g.100653789C>Texon 5NonsensePathogenic06/02/20207 [5/0/2]0.01399
cDNA
change
 i
ic.784T>CProtein
change
 i
p.W262RgDNA
change
 i
chrX:g.100653790A>GLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00280
p.W262RchrX:g.100653790A>Gexon 5MissensePathogenic06/02/20201 [1/0/0]0.00280
cDNA
change
 i
ic.782G>TProtein
change
 i
p.G261VgDNA
change
 i
chrX:g.100653792C>ALocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
4 [2/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.03919
p.G261VchrX:g.100653792C>Aexon 5MissensePathogenic06/02/20204 [2/0/2]0.03919
cDNA
change
 i
ic.782dupProtein
change
 i
p.W262Lfs*3gDNA
change
 i
chrX:g.100653792dupLocation iexon 5Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
1 [0/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00559
p.W262Lfs*3chrX:g.100653792dupexon 5FrameshiftPathogenic06/02/20201 [0/0/1]0.00559
cDNA
change
 i
ic.776C>TProtein
change
 i
p.P259LgDNA
change
 i
chrX:g.100653798G>ALocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
1 [0/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00839
p.P259LchrX:g.100653798G>Aexon 5MissensePathogenic06/02/20201 [0/0/1]0.00839
cDNA
change
 i
ic.774_775delProtein
change
 i
p.P259Rfs*5gDNA
change
 i
chrX:g.100653799_100653800delLocation iexon 5Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
03/04/2020Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00459
p.P259Rfs*5chrX:g.100653799_100653800delexon 5FrameshiftPathogenic03/04/20201 [1/0/0]0.00459
cDNA
change
 i
ic.761T>CProtein
change
 i
p.V254AgDNA
change
 i
chrX:g.100653813A>GLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/15/2020Individuals
[Het/Hom]
 i
2 [1/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.01679
p.V254AchrX:g.100653813A>Gexon 5MissensePathogenic06/15/20202 [1/0/1]0.01679
cDNA
change
 i
ic.758T>CProtein
change
 i
p.I253TgDNA
change
 i
chrX:g.100653816A>GLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/08/2020Individuals
[Het/Hom]
 i
7 [4/0/3]Internal allele
frequency given at ⨉ 10-3
 i
0.02519
p.I253TchrX:g.100653816A>Gexon 5MissensePathogenic06/08/20207 [4/0/3]0.02519
cDNA
change
 i
ic.755G>CProtein
change
 i
p.R252TgDNA
change
 i
chrX:g.100653819C>GLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
BenignLast
review
 i
06/08/2020Individuals
[Het/Hom]
 i
17 [9/0/8]Internal allele
frequency given at ⨉ 10-3
 i
0.02799
p.R252TchrX:g.100653819C>Gexon 5MissenseBenign06/08/202017 [9/0/8]0.02799
cDNA
change
 i
ic.749A>CProtein
change
 i
p.Q250PgDNA
change
 i
chrX:g.100653825T>GLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
9 [5/0/4]Internal allele
frequency given at ⨉ 10-3
 i
0.00559
p.Q250PchrX:g.100653825T>Gexon 5MissensePathogenic06/02/20209 [5/0/4]0.00559
cDNA
change
 i
ic.747C>AProtein
change
 i
p.N249KgDNA
change
 i
chrX:g.100653827G>TLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/08/2020Individuals
[Het/Hom]
 i
6 [4/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.01959
p.N249KchrX:g.100653827G>Texon 5MissensePathogenic06/08/20206 [4/0/2]0.01959
cDNA
change
 i
ic.744_745delProtein
change
 i
p.F248Lfs*7gDNA
change
 i
chrX:g.100653829_100653830delLocation iexon 5Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
3 [3/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01119
p.F248Lfs*7chrX:g.100653829_100653830delexon 5FrameshiftPathogenic06/02/20203 [3/0/0]0.01119
cDNA
change
 i
ic.739T>CProtein
change
 i
p.S247PgDNA
change
 i
chrX:g.100653835A>GLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
4 [3/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.01679
p.S247PchrX:g.100653835A>Gexon 5MissensePathogenic06/02/20204 [3/0/1]0.01679
cDNA
change
 i
ic.729G>CProtein
change
 i
p.L243FgDNA
change
 i
chrX:g.100653845C>GLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
3 [3/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00280
p.L243FchrX:g.100653845C>Gexon 5MissensePathogenic06/02/20203 [3/0/0]0.00280
cDNA
change
 i
ic.724A>GProtein
change
 i
p.I242VgDNA
change
 i
chrX:g.100653850T>CLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/05/2020Individuals
[Het/Hom]
 i
5 [2/0/3]Internal allele
frequency given at ⨉ 10-3
 i
0.01399
p.I242VchrX:g.100653850T>Cexon 5MissensePathogenic06/05/20205 [2/0/3]0.01399
cDNA
change
 i
ic.723dupProtein
change
 i
p.I242Yfs*8gDNA
change
 i
chrX:g.100653851dupLocation iexon 5Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
03/30/2020Individuals
[Het/Hom]
 i
3 [1/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.01679
p.I242Yfs*8chrX:g.100653851dupexon 5FrameshiftPathogenic03/30/20203 [1/0/2]0.01679
cDNA
change
 i
ic.718_719delProtein
change
 i
p.K240Efs*9gDNA
change
 i
chrX:g.100653855_100653856delLocation iexon 5Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
23 [12/0/11]Internal allele
frequency given at ⨉ 10-3
 i
0.10358
p.K240Efs*9chrX:g.100653855_100653856delexon 5FrameshiftPathogenic06/02/202023 [12/0/11]0.10358
cDNA
change
 i
ic.714_715insCCAAGATProtein
change
 i
p.I239Pfs*13gDNA
change
 i
chrX:g.100653859_100653860insATCTTGGLocation iexon 5Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
01/24/2020Individuals
[Het/Hom]
 i
1 [1/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00280
p.I239Pfs*13chrX:g.100653859_100653860insATCTTGGexon 5FrameshiftPathogenic01/24/20201 [1/0/0]0.00280
cDNA
change
 i
ic.713G>AProtein
change
 i
p.S238NgDNA
change
 i
chrX:g.100653861C>TLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
79 [46/1/32]Internal allele
frequency given at ⨉ 10-3
 i
0.32195
p.S238NchrX:g.100653861C>Texon 5MissensePathogenic06/02/202079 [46/1/32]0.32195
cDNA
change
 i
ic.708G>CProtein
change
 i
p.W236CgDNA
change
 i
chrX:g.100653866C>GLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
03/27/2020Individuals
[Het/Hom]
 i
6 [3/0/3]Internal allele
frequency given at ⨉ 10-3
 i
0.01399
p.W236CchrX:g.100653866C>Gexon 5MissensePathogenic03/27/20206 [3/0/3]0.01399
cDNA
change
 i
ic.675_694delProtein
change
 i
p.W226XgDNA
change
 i
chrX:g.100653880_100653899delLocation iexon 5Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
06/06/2020Individuals
[Het/Hom]
 i
2 [1/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00280
p.W226XchrX:g.100653880_100653899delexon 5NonsensePathogenic06/06/20202 [1/0/1]0.00280
cDNA
change
 i
ic.680G>AProtein
change
 i
p.R227QgDNA
change
 i
chrX:g.100653894C>TLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
03/27/2020Individuals
[Het/Hom]
 i
36 [22/0/14]Internal allele
frequency given at ⨉ 10-3
 i
0.11198
p.R227QchrX:g.100653894C>Texon 5MissensePathogenic03/27/202036 [22/0/14]0.11198
cDNA
change
 i
ic.679C>TProtein
change
 i
p.R227XgDNA
change
 i
chrX:g.100653895G>ALocation iexon 5Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
03/28/2020Individuals
[Het/Hom]
 i
47 [27/0/20]Internal allele
frequency given at ⨉ 10-3
 i
0.18757
p.R227XchrX:g.100653895G>Aexon 5NonsensePathogenic03/28/202047 [27/0/20]0.18757
cDNA
change
 i
ic.671A>GProtein
change
 i
p.N224SgDNA
change
 i
chrX:g.100653903T>CLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
4 [3/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.02799
p.N224SchrX:g.100653903T>Cexon 5MissensePathogenic06/02/20204 [3/0/1]0.02799
cDNA
change
 i
ic.668G>AProtein
change
 i
p.C223YgDNA
change
 i
chrX:g.100653906C>TLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
03/27/2020Individuals
[Het/Hom]
 i
3 [2/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.02239
p.C223YchrX:g.100653906C>Texon 5MissensePathogenic03/27/20203 [2/0/1]0.02239
cDNA
change
 i
ic.664T>GProtein
change
 i
p.Y222DgDNA
change
 i
chrX:g.100653910A>CLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/12/2020Individuals
[Het/Hom]
 i
3 [3/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00280
p.Y222DchrX:g.100653910A>Cexon 5MissensePathogenic06/12/20203 [3/0/0]0.00280
cDNA
change
 i
ic.658C>TProtein
change
 i
p.R220XgDNA
change
 i
chrX:g.100653916G>ALocation iexon 5Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
03/28/2020Individuals
[Het/Hom]
 i
46 [21/0/25]Internal allele
frequency given at ⨉ 10-3
 i
0.17357
p.R220XchrX:g.100653916G>Aexon 5NonsensePathogenic03/28/202046 [21/0/25]0.17357
cDNA
change
 i
ic.657C>GProtein
change
 i
p.I219MgDNA
change
 i
chrX:g.100653917G>CLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
Likely pathogenicLast
review
 i
06/08/2020Individuals
[Het/Hom]
 i
1 [0/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00280
p.I219MchrX:g.100653917G>Cexon 5MissenseLikely pathogenic06/08/20201 [0/0/1]0.00280
cDNA
change
 i
ic.648T>AProtein
change
 i
p.Y216XgDNA
change
 i
chrX:g.100653926A>TLocation iexon 5Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
03/28/2020Individuals
[Het/Hom]
 i
3 [2/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.01379
p.Y216XchrX:g.100653926A>Texon 5NonsensePathogenic03/28/20203 [2/0/1]0.01379
cDNA
change
 i
ic.646_648delProtein
change
 i
p.Y216delgDNA
change
 i
chrX:g.100653926_100653928delLocation iexon 5Coding
effect
 i
In-frameClinical
significance
 i
PathogenicLast
review
 i
03/09/2020Individuals
[Het/Hom]
 i
2 [2/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00919
p.Y216delchrX:g.100653926_100653928delexon 5In-framePathogenic03/09/20202 [2/0/0]0.00919
cDNA
change
 i
ic.647A>GProtein
change
 i
p.Y216CgDNA
change
 i
chrX:g.100653927T>CLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/08/2020Individuals
[Het/Hom]
 i
4 [2/0/2]Internal allele
frequency given at ⨉ 10-3
 i
0.03079
p.Y216CchrX:g.100653927T>Cexon 5MissensePathogenic06/08/20204 [2/0/2]0.03079
cDNA
change
 i
ic.644A>GProtein
change
 i
p.N215SgDNA
change
 i
chrX:g.100653930T>CLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
05/30/2020Individuals
[Het/Hom]
 i
181 [95/2/84]Internal allele
frequency given at ⨉ 10-3
 i
1.57616
p.N215SchrX:g.100653930T>Cexon 5MissensePathogenic05/30/2020181 [95/2/84]1.57616
cDNA
change
 i
ic.641C>TProtein
change
 i
p.P214LgDNA
change
 i
chrX:g.100653933G>ALocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
06/02/2020Individuals
[Het/Hom]
 i
9 [8/0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.00839
p.P214LchrX:g.100653933G>Aexon 5MissensePathogenic06/02/20209 [8/0/1]0.00839
cDNA
change
 i
ic.640-3C>GProtein
change
 i
gDNA
change
 i
chrX:g.100653937G>CLocation iintron 4Coding
effect
 i
Splicing mutationClinical
significance
 i
PathogenicLast
review
 i
03/28/2020Individuals
[Het/Hom]
 i
5 [0/0/5]Internal allele
frequency given at ⨉ 10-3
 i
0.00559
chrX:g.100653937G>Cintron 4Splicing mutationPathogenic03/28/20205 [0/0/5]0.00559
cDNA
change
 i
ic.640-16A>GProtein
change
 i
gDNA
change
 i
chrX:g.100653950T>CLocation iintron 4Coding
effect
 i
Effect unknownClinical
significance
 i
BenignLast
review
 i
06/17/2020Individuals
[Het/Hom]
 i
22381 [15205/1262/5914]Internal allele
frequency given at ⨉ 10-3
 i
145.13880
chrX:g.100653950T>Cintron 4Effect unknownBenign06/17/202022381 [15205/1262/5914]145.13880
cDNA
change
 i
ic.640-57T>CProtein
change
 i
gDNA
change
 i
chrX:g.100653991A>GLocation iintron 4Coding
effect
 i
Effect unknownClinical
significance
 i
UncertainLast
review
 i
10/02/2019Individuals
[Het/Hom]
 i
3 [3/0/0]Internal allele
frequency given at ⨉ 10-3
 i
0.00721
chrX:g.100653991A>Gintron 4Effect unknownUncertain10/02/20193 [3/0/0]0.00721
cDNA
change
 i
ic.640-61_640-60delProtein
change
 i
gDNA
change
 i
chrX:g.100653994_100653995delLocation iintron 4Coding
effect
 i
Effect unknownClinical
significance
 i
Likely benignLast
review
 i
05/13/2020Individuals
[Het/Hom]
 i
12 [8/0/4]Internal allele
frequency given at ⨉ 10-3
 i
0.01443
chrX:g.100653994_100653995delintron 4Effect unknownLikely benign05/13/202012 [8/0/4]0.01443
cDNA
change
 i
ic.640-64delProtein
change
 i
gDNA
change
 i
chrX:g.100653998delLocation iintron 4Coding
effect
 i
Effect unknownClinical
significance
 i
Likely benignLast
review
 i
04/25/2020Individuals
[Het/Hom]
 i
2