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

Select your gene of interest

GBA GLA
GBA
1
NM_000157.3
Gaucher disease
230800
Autosomal recessive
Total entries for selected gene: Total entries 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.*102T>CProtein
change
 i
gDNA
change
 i
chr1:g.155204684A>GLocation i3'UTRCoding
effect
 i
Effect unknownClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
83 [79/4]Internal allele
frequency given at ⨉ 10-3
 i
1.54699
chr1:g.155204684A>G3'UTREffect unknownLikely benign12/14/201883 [79/4]1.54699
cDNA
change
 i
ic.*165T>CProtein
change
 i
gDNA
change
 i
chr1:g.155204621A>GLocation i3'UTRCoding
effect
 i
Effect unknownClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
152 [147/5]Internal allele
frequency given at ⨉ 10-3
 i
2.79170
chr1:g.155204621A>G3'UTREffect unknownLikely benign12/14/2018152 [147/5]2.79170
cDNA
change
 i
ic.*245C>TProtein
change
 i
gDNA
change
 i
chr1:g.155204541G>ALocation i3'UTRCoding
effect
 i
Effect unknownClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
chr1:g.155204541G>A3'UTREffect unknownLikely benign12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.*29C>TProtein
change
 i
gDNA
change
 i
chr1:g.155204757G>ALocation i3'UTRCoding
effect
 i
Effect unknownClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
16 [14/2]Internal allele
frequency given at ⨉ 10-3
 i
0.32006
chr1:g.155204757G>A3'UTREffect unknownLikely benign12/14/201816 [14/2]0.32006
cDNA
change
 i
ic.*92G>AProtein
change
 i
gDNA
change
 i
chr1:g.155204694C>TLocation i3'UTRCoding
effect
 i
Effect unknownClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
98 [88/10]Internal allele
frequency given at ⨉ 10-3
 i
1.92040
chr1:g.155204694C>T3'UTREffect unknownLikely benign12/14/201898 [88/10]1.92040
cDNA
change
 i
ic.-14A>GProtein
change
 i
gDNA
change
 i
chr1:g.155210917T>CLocation i5'UTRCoding
effect
 i
Effect unknownClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
chr1:g.155210917T>C5'UTREffect unknownLikely benign12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.-15A>GProtein
change
 i
gDNA
change
 i
chr1:g.155210918T>CLocation i5'UTRCoding
effect
 i
Effect unknownClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
30 [30/0]Internal allele
frequency given at ⨉ 10-3
 i
0.53344
chr1:g.155210918T>C5'UTREffect unknownLikely benign12/14/201830 [30/0]0.53344
cDNA
change
 i
ic.-22T>CProtein
change
 i
gDNA
change
 i
chr1:g.155210925A>GLocation i5'UTRCoding
effect
 i
Effect unknownClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
chr1:g.155210925A>G5'UTREffect unknownLikely benign12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.-2G>TProtein
change
 i
gDNA
change
 i
chr1:g.155210905C>ALocation i5'UTRCoding
effect
 i
Effect unknownClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
chr1:g.155210905C>A5'UTREffect unknownLikely benign12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.-30G>CProtein
change
 i
gDNA
change
 i
chr1:g.155210933C>GLocation i5'UTRCoding
effect
 i
Effect unknownClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
4 [4/0]Internal allele
frequency given at ⨉ 10-3
 i
0.07112
chr1:g.155210933C>G5'UTREffect unknownLikely benign12/14/20184 [4/0]0.07112
cDNA
change
 i
ic.1225_1505conNR_002188.3Protein
change
 i
gDNA
change
 i
chr1:g.155204986_155205635conNC_000001.10Location ie10_e11Coding
effect
 i
Effect unknownClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
3 [3/0]Internal allele
frequency given at ⨉ 10-3
 i
0.26492
chr1:g.155204986_155205635conNC_000001.10e10_e11Effect unknownPathogenic12/14/20183 [3/0]0.26492
cDNA
change
 i
ic.1225_*547conNR_002188.3Protein
change
 i
gDNA
change
 i
chr1:g.155204239_155205635conNC_000001.10Location ie10_e12Coding
effect
 i
Effect unknownClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
chr1:g.155204239_155205635conNC_000001.10e10_e12Effect unknownPathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.116_*547conNR_002188.3Protein
change
 i
gDNA
change
 i
chr1:g.155204239_155209868conNC_000001.10Location ie4_e12Coding
effect
 i
Effect unknownClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
chr1:g.155204239_155209868conNC_000001.10e4_e12Effect unknownPathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.1000_1505conNR_002188.3Protein
change
 i
gDNA
change
 i
chr1:g.155204986_155206260conNC_000001.10Location ie9_e11Coding
effect
 i
Effect unknownClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.08830
chr1:g.155204986_155206260conNC_000001.10e9_e11Effect unknownPathogenic12/14/20181 [1/0]0.08830
cDNA
change
 i
ic.1226A>GProtein
change
 i
p.N409SgDNA
change
 i
chr1:g.155205634T>CLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
776 [631/145]Internal allele
frequency given at ⨉ 10-3
 i
16.37682
p.N409Schr1:g.155205634T>Cexon 10MissensePathogenic12/14/2018776 [631/145]16.37682
cDNA
change
 i
ic.1227C>AProtein
change
 i
p.N409KgDNA
change
 i
chr1:g.155205633G>TLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.08830
p.N409Kchr1:g.155205633G>Texon 10MissenseUncertain12/14/20181 [1/0]0.08830
cDNA
change
 i
ic.1228C>GProtein
change
 i
p.L410VgDNA
change
 i
chr1:g.155205632G>CLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.L410Vchr1:g.155205632G>Cexon 10MissensePathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.1231C>TProtein
change
 i
p.L411LgDNA
change
 i
chr1:g.155205629G>ALocation iexon 10Coding
effect
 i
SilentClinical
significance
 i
BenignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.L411Lchr1:g.155205629G>Aexon 10SilentBenign12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.1238A>CProtein
change
 i
p.H413PgDNA
change
 i
chr1:g.155205622T>GLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.08830
p.H413Pchr1:g.155205622T>Gexon 10MissenseUncertain12/14/20181 [1/0]0.08830
cDNA
change
 i
ic.1240G>CProtein
change
 i
p.V414LgDNA
change
 i
chr1:g.155205620C>GLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
4 [4/0]Internal allele
frequency given at ⨉ 10-3
 i
0.07112
p.V414Lchr1:g.155205620C>Gexon 10MissensePathogenic12/14/20184 [4/0]0.07112
cDNA
change
 i
ic.1240G>TProtein
change
 i
p.V414LgDNA
change
 i
chr1:g.155205620C>ALocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.V414Lchr1:g.155205620C>Aexon 10MissensePathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.1246G>AProtein
change
 i
p.G416SgDNA
change
 i
chr1:g.155205614C>TLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
13 [12/1]Internal allele
frequency given at ⨉ 10-3
 i
0.24894
p.G416Schr1:g.155205614C>Texon 10MissensePathogenic12/14/201813 [12/1]0.24894
cDNA
change
 i
ic.1249T>GProtein
change
 i
p.W417GgDNA
change
 i
chr1:g.155205611A>CLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.W417Gchr1:g.155205611A>Cexon 10MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.1249_1251delProtein
change
 i
p.W417delgDNA
change
 i
chr1:g.155205609_155205611delLocation iexon 10Coding
effect
 i
In-frameClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.W417delchr1:g.155205609_155205611delexon 10In-framePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.1251G>CProtein
change
 i
p.W417CgDNA
change
 i
chr1:g.155205609C>GLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
3 [3/0]Internal allele
frequency given at ⨉ 10-3
 i
0.05334
p.W417Cchr1:g.155205609C>Gexon 10MissensePathogenic12/14/20183 [3/0]0.05334
cDNA
change
 i
ic.1255G>AProtein
change
 i
p.D419NgDNA
change
 i
chr1:g.155205605C>TLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.D419Nchr1:g.155205605C>Texon 10MissensePathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.1255G>CProtein
change
 i
p.D419HgDNA
change
 i
chr1:g.155205605C>GLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.D419Hchr1:g.155205605C>Gexon 10MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.1265_1319delProtein
change
 i
p.L422Pfs*4gDNA
change
 i
chr1:g.155205541_155205595delLocation iexon 10Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
14 [13/1]Internal allele
frequency given at ⨉ 10-3
 i
0.26672
p.L422Pfs*4chr1:g.155205541_155205595delexon 10FrameshiftPathogenic12/14/201814 [13/1]0.26672
cDNA
change
 i
ic.1265_1320delProtein
change
 i
p.L422Hfs*28gDNA
change
 i
chr1:g.155205540_155205595delLocation iexon 10Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.L422Hfs*28chr1:g.155205540_155205595delexon 10FrameshiftPathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.1279G>AProtein
change
 i
p.E427KgDNA
change
 i
chr1:g.155205581C>TLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
16 [16/0]Internal allele
frequency given at ⨉ 10-3
 i
0.28450
p.E427Kchr1:g.155205581C>Texon 10MissenseUncertain12/14/201816 [16/0]0.28450
cDNA
change
 i
ic.1286delProtein
change
 i
p.G429Dfs*15gDNA
change
 i
chr1:g.155205574delLocation iexon 10Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.G429Dfs*15chr1:g.155205574delexon 10FrameshiftPathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.1289C>TProtein
change
 i
p.P430LgDNA
change
 i
chr1:g.155205571G>ALocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
5 [5/0]Internal allele
frequency given at ⨉ 10-3
 i
0.08890
p.P430Lchr1:g.155205571G>Aexon 10MissensePathogenic12/14/20185 [5/0]0.08890
cDNA
change
 i
ic.1292A>GProtein
change
 i
p.N431SgDNA
change
 i
chr1:g.155205568T>CLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.N431Schr1:g.155205568T>Cexon 10MissenseUncertain12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.1294T>AProtein
change
 i
p.W432RgDNA
change
 i
chr1:g.155205566A>TLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.W432Rchr1:g.155205566A>Texon 10MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.1295G>TProtein
change
 i
p.W432LgDNA
change
 i
chr1:g.155205565C>ALocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.W432Lchr1:g.155205565C>Aexon 10MissensePathogenic12/14/20181 [0/1]0.03556
cDNA
change
 i
ic.1297G>TProtein
change
 i
p.V433LgDNA
change
 i
chr1:g.155205563C>ALocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
12 [12/0]Internal allele
frequency given at ⨉ 10-3
 i
0.21337
p.V433Lchr1:g.155205563C>Aexon 10MissensePathogenic12/14/201812 [12/0]0.21337
cDNA
change
 i
ic.1300C>TProtein
change
 i
p.R434CgDNA
change
 i
chr1:g.155205560G>ALocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
3 [3/0]Internal allele
frequency given at ⨉ 10-3
 i
0.05334
p.R434Cchr1:g.155205560G>Aexon 10MissensePathogenic12/14/20183 [3/0]0.05334
cDNA
change
 i
ic.1301G>CProtein
change
 i
p.R434PgDNA
change
 i
chr1:g.155205559C>GLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.R434Pchr1:g.155205559C>Gexon 10MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.1304A>CProtein
change
 i
p.N435TgDNA
change
 i
chr1:g.155205556T>GLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
3 [3/0]Internal allele
frequency given at ⨉ 10-3
 i
0.05334
p.N435Tchr1:g.155205556T>Gexon 10MissensePathogenic12/14/20183 [3/0]0.05334
cDNA
change
 i
ic.1312G>AProtein
change
 i
p.D438NgDNA
change
 i
chr1:g.155205548C>TLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.D438Nchr1:g.155205548C>Texon 10MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.1316G>AProtein
change
 i
p.S439NgDNA
change
 i
chr1:g.155205544C>TLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.S439Nchr1:g.155205544C>Texon 10MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.1316G>CProtein
change
 i
p.S439TgDNA
change
 i
chr1:g.155205544C>GLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.S439Tchr1:g.155205544C>Gexon 10MissensePathogenic12/14/20181 [0/1]0.03556
cDNA
change
 i
ic.1331A>TProtein
change
 i
p.D444VgDNA
change
 i
chr1:g.155205529T>ALocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.D444Vchr1:g.155205529T>Aexon 10MissensePathogenic12/14/20181 [0/1]0.03556
cDNA
change
 i
ic.1342G>CProtein
change
 i
p.D448HgDNA
change
 i
chr1:g.155205518C>GLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
90 [78/12]Internal allele
frequency given at ⨉ 10-3
 i
1.81372
p.D448Hchr1:g.155205518C>Gexon 10MissensePathogenic12/14/201890 [78/12]1.81372
cDNA
change
 i
ic.1343A>GProtein
change
 i
p.D448GgDNA
change
 i
chr1:g.155205517T>CLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.D448Gchr1:g.155205517T>Cexon 10MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.1348T>AProtein
change
 i
p.F450IgDNA
change
 i
chr1:g.155205512A>TLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.F450Ichr1:g.155205512A>Texon 10MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.1360C>TProtein
change
 i
p.P454SgDNA
change
 i
chr1:g.155205500G>ALocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.P454Schr1:g.155205500G>Aexon 10MissensePathogenic12/14/20181 [0/1]0.03556
cDNA
change
 i
ic.1365G>AProtein
change
 i
p.M455IgDNA
change
 i
chr1:g.155205495C>TLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
4 [4/0]Internal allele
frequency given at ⨉ 10-3
 i
0.07112
p.M455Ichr1:g.155205495C>Texon 10MissensePathogenic12/14/20184 [4/0]0.07112
cDNA
change
 i
ic.1378G>AProtein
change
 i
p.G460SgDNA
change
 i
chr1:g.155205482C>TLocation iexon 10Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.G460Schr1:g.155205482C>Texon 10MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.1397T>GProtein
change
 i
p.I466SgDNA
change
 i
chr1:g.155205094A>CLocation iexon 11Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.I466Schr1:g.155205094A>Cexon 11MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.1431C>GProtein
change
 i
p.A477AgDNA
change
 i
chr1:g.155205060G>CLocation iexon 11Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.A477Achr1:g.155205060G>Cexon 11SilentLikely benign12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.1444G>AProtein
change
 i
p.D482NgDNA
change
 i
chr1:g.155205047C>TLocation iexon 11Coding
effect
 i
MissenseClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
19 [19/0]Internal allele
frequency given at ⨉ 10-3
 i
0.33784
p.D482Nchr1:g.155205047C>Texon 11MissenseLikely benign12/14/201819 [19/0]0.33784
cDNA
change
 i
ic.1448T>CProtein
change
 i
p.L483PgDNA
change
 i
chr1:g.155205043A>GLocation iexon 11Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
489 [340/149]Internal allele
frequency given at ⨉ 10-3
 i
11.34464
p.L483Pchr1:g.155205043A>Gexon 11MissensePathogenic12/14/2018489 [340/149]11.34464
cDNA
change
 i
ic.1448T>GProtein
change
 i
p.L483RgDNA
change
 i
chr1:g.155205043A>CLocation iexon 11Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [1/1]Internal allele
frequency given at ⨉ 10-3
 i
0.05334
p.L483Rchr1:g.155205043A>Cexon 11MissensePathogenic12/14/20182 [1/1]0.05334
cDNA
change
 i
ic.1453G>CProtein
change
 i
p.A485PgDNA
change
 i
chr1:g.155205038C>GLocation iexon 11Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [1/1]Internal allele
frequency given at ⨉ 10-3
 i
0.05334
p.A485Pchr1:g.155205038C>Gexon 11MissensePathogenic12/14/20182 [1/1]0.05334
cDNA
change
 i
ic.1455A>GProtein
change
 i
p.A485AgDNA
change
 i
chr1:g.155205036T>CLocation iexon 11Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
54 [52/2]Internal allele
frequency given at ⨉ 10-3
 i
0.99576
p.A485Achr1:g.155205036T>Cexon 11SilentLikely benign12/14/201854 [52/2]0.99576
cDNA
change
 i
ic.1459G>AProtein
change
 i
p.A487TgDNA
change
 i
chr1:g.155205032C>TLocation iexon 11Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.A487Tchr1:g.155205032C>Texon 11MissensePathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.1474_1475delinsCTProtein
change
 i
p.D492LgDNA
change
 i
chr1:g.155205016_155205017delinsAGLocation iexon 11Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.D492Lchr1:g.155205016_155205017delinsAGexon 11MissenseUncertain12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.1482T>CProtein
change
 i
p.S494SgDNA
change
 i
chr1:g.155205009A>GLocation iexon 11Coding
effect
 i
SilentClinical
significance
 i
BenignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.S494Schr1:g.155205009A>Gexon 11SilentBenign12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.1483G>CProtein
change
 i
p.A495PgDNA
change
 i
chr1:g.155205008C>GLocation iexon 11Coding
effect
 i
MissenseClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
89 [89/0]Internal allele
frequency given at ⨉ 10-3
 i
1.58255
p.A495Pchr1:g.155205008C>Gexon 11MissenseLikely benign12/14/201889 [89/0]1.58255
cDNA
change
 i
ic.1494C>TProtein
change
 i
p.V498VgDNA
change
 i
chr1:g.155204997G>ALocation iexon 11Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
4 [4/0]Internal allele
frequency given at ⨉ 10-3
 i
0.07112
p.V498Vchr1:g.155204997G>Aexon 11SilentLikely benign12/14/20184 [4/0]0.07112
cDNA
change
 i
ic.1495G>AProtein
change
 i
p.V499MgDNA
change
 i
chr1:g.155204996C>TLocation iexon 11Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
8 [8/0]Internal allele
frequency given at ⨉ 10-3
 i
0.14225
p.V499Mchr1:g.155204996C>Texon 11MissensePathogenic12/14/20188 [8/0]0.14225
cDNA
change
 i
ic.1495G>CProtein
change
 i
p.V499LgDNA
change
 i
chr1:g.155204996C>GLocation iexon 11Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
12 [12/0]Internal allele
frequency given at ⨉ 10-3
 i
0.21337
p.V499Lchr1:g.155204996C>Gexon 11MissenseUncertain12/14/201812 [12/0]0.21337
cDNA
change
 i
ic.1497G>CProtein
change
 i
p.V499VgDNA
change
 i
chr1:g.155204994C>GLocation iexon 11Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
112 [107/5]Internal allele
frequency given at ⨉ 10-3
 i
2.08044
p.V499Vchr1:g.155204994C>Gexon 11SilentLikely benign12/14/2018112 [107/5]2.08044
cDNA
change
 i
ic.1502A>GProtein
change
 i
p.N501SgDNA
change
 i
chr1:g.155204989T>CLocation iexon 11Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
3 [3/0]Internal allele
frequency given at ⨉ 10-3
 i
0.05334
p.N501Schr1:g.155204989T>Cexon 11MissensePathogenic12/14/20183 [3/0]0.05334
cDNA
change
 i
ic.1504C>TProtein
change
 i
p.R502CgDNA
change
 i
chr1:g.155204987G>ALocation iexon 11Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
17 [9/8]Internal allele
frequency given at ⨉ 10-3
 i
0.44453
p.R502Cchr1:g.155204987G>Aexon 11MissensePathogenic12/14/201817 [9/8]0.44453
cDNA
change
 i
ic.1505G>AProtein
change
 i
p.R502HgDNA
change
 i
chr1:g.155204986C>TLocation iexon 11Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
5 [4/1]Internal allele
frequency given at ⨉ 10-3
 i
0.10668
p.R502Hchr1:g.155204986C>Texon 11MissensePathogenic12/14/20185 [4/1]0.10668
cDNA
change
 i
ic.1545_*102delProtein
change
 i
p.V516XgDNA
change
 i
chr1:g.155204684_155204852delLocation iexon 12Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.V516Xchr1:g.155204684_155204852delexon 12NonsensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.1574G>AProtein
change
 i
p.G525DgDNA
change
 i
chr1:g.155204823C>TLocation iexon 12Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
4 [3/1]Internal allele
frequency given at ⨉ 10-3
 i
0.08890
p.G525Dchr1:g.155204823C>Texon 12MissensePathogenic12/14/20184 [3/1]0.08890
cDNA
change
 i
ic.1575C>TProtein
change
 i
p.G525GgDNA
change
 i
chr1:g.155204822G>ALocation iexon 12Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.G525Gchr1:g.155204822G>Aexon 12SilentLikely benign12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.1583T>CProtein
change
 i
p.I528TgDNA
change
 i
chr1:g.155204814A>GLocation iexon 12Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
4 [2/2]Internal allele
frequency given at ⨉ 10-3
 i
0.10668
p.I528Tchr1:g.155204814A>Gexon 12MissensePathogenic12/14/20184 [2/2]0.10668
cDNA
change
 i
ic.1603C>TProtein
change
 i
p.R535CgDNA
change
 i
chr1:g.155204794G>ALocation iexon 12Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
5 [2/3]Internal allele
frequency given at ⨉ 10-3
 i
0.14225
p.R535Cchr1:g.155204794G>Aexon 12MissensePathogenic12/14/20185 [2/3]0.14225
cDNA
change
 i
ic.1604G>AProtein
change
 i
p.R535HgDNA
change
 i
chr1:g.155204793C>TLocation iexon 12Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
24 [24/0]Internal allele
frequency given at ⨉ 10-3
 i
0.42675
p.R535Hchr1:g.155204793C>Texon 12MissensePathogenic12/14/201824 [24/0]0.42675
cDNA
change
 i
ic.1604G>CProtein
change
 i
p.R535PgDNA
change
 i
chr1:g.155204793C>GLocation iexon 12Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.R535Pchr1:g.155204793C>Gexon 12MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.1606C>TProtein
change
 i
p.Q536XgDNA
change
 i
chr1:g.155204791G>ALocation iexon 12Coding
effect
 i
NonsenseClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [1/1]Internal allele
frequency given at ⨉ 10-3
 i
0.26492
p.Q536Xchr1:g.155204791G>Aexon 12NonsenseLikely benign12/14/20182 [1/1]0.26492
cDNA
change
 i
ic.1607A>GProtein
change
 i
p.Q536RgDNA
change
 i
chr1:g.155204790T>CLocation iexon 12Coding
effect
 i
MissenseClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.08830
p.Q536Rchr1:g.155204790T>Cexon 12MissenseLikely benign12/14/20181 [1/0]0.08830
cDNA
change
 i
ic.1609T>CProtein
change
 i
p.*537Rext*15gDNA
change
 i
chr1:g.155204788A>GLocation iexon 12Coding
effect
 i
New translation termination codonClinical
significance
 i
Likely pathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.08830
p.*537Rext*15chr1:g.155204788A>Gexon 12New translation termination codonLikely pathogenic12/14/20181 [1/0]0.08830
cDNA
change
 i
ic.10T>GProtein
change
 i
p.S4AgDNA
change
 i
chr1:g.155210894A>CLocation iexon 2Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.S4Achr1:g.155210894A>Cexon 2MissenseUncertain12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.17_18delProtein
change
 i
p.P6Lfs*11gDNA
change
 i
chr1:g.155210886_155210887delLocation iexon 2Coding
effect
 i
FrameshiftClinical
significance
 i
Likely pathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.08830
p.P6Lfs*11chr1:g.155210886_155210887delexon 2FrameshiftLikely pathogenic12/14/20181 [1/0]0.08830
cDNA
change
 i
ic.23G>CProtein
change
 i
p.R8TgDNA
change
 i
chr1:g.155210881C>GLocation iexon 2Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.R8Tchr1:g.155210881C>Gexon 2MissenseUncertain12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.108G>AProtein
change
 i
p.W36XgDNA
change
 i
chr1:g.155210428C>TLocation iexon 3Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.W36Xchr1:g.155210428C>Texon 3NonsensePathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.28_115delProtein
change
 i
p.E10Vfs*52gDNA
change
 i
chr1:g.155210421_155210508delLocation iexon 3Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.E10Vfs*52chr1:g.155210421_155210508delexon 3FrameshiftPathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.38A>GProtein
change
 i
p.K13RgDNA
change
 i
chr1:g.155210498T>CLocation iexon 3Coding
effect
 i
MissenseClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
337 [324/13]Internal allele
frequency given at ⨉ 10-3
 i
6.22354
p.K13Rchr1:g.155210498T>Cexon 3MissenseLikely benign12/14/2018337 [324/13]6.22354
cDNA
change
 i
ic.43_66delProtein
change
 i
p.L15_A22delgDNA
change
 i
chr1:g.155210470_155210493delLocation iexon 3Coding
effect
 i
In-frameClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
3 [2/1]Internal allele
frequency given at ⨉ 10-3
 i
0.07112
p.L15_A22delchr1:g.155210470_155210493delexon 3In-framePathogenic12/14/20183 [2/1]0.07112
cDNA
change
 i
ic.44T>CProtein
change
 i
p.L15SgDNA
change
 i
chr1:g.155210492A>GLocation iexon 3Coding
effect
 i
MissenseClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.L15Schr1:g.155210492A>Gexon 3MissenseLikely benign12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.44_46delinsCGGProtein
change
 i
p.L15_S16delinsSGgDNA
change
 i
chr1:g.155210490_155210492delinsCCGLocation iexon 3Coding
effect
 i
In-frameClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.08818
p.L15_S16delinsSGchr1:g.155210490_155210492delinsCCGexon 3In-frameLikely benign12/14/20181 [1/0]0.08818
cDNA
change
 i
ic.46A>GProtein
change
 i
p.S16GgDNA
change
 i
chr1:g.155210490T>CLocation iexon 3Coding
effect
 i
MissenseClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.S16Gchr1:g.155210490T>Cexon 3MissenseLikely benign12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.54A>GProtein
change
 i
p.V18VgDNA
change
 i
chr1:g.155210482T>CLocation iexon 3Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.08830
p.V18Vchr1:g.155210482T>Cexon 3SilentLikely benign12/14/20181 [1/0]0.08830
cDNA
change
 i
ic.82T>CProtein
change
 i
p.L28LgDNA
change
 i
chr1:g.155210454A>GLocation iexon 3Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.L28Lchr1:g.155210454A>Gexon 3SilentLikely benign12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.84dupProtein
change
 i
p.L29Afs*18gDNA
change
 i
chr1:g.155210452dupLocation iexon 3Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
27 [27/0]Internal allele
frequency given at ⨉ 10-3
 i
0.48010
p.L29Afs*18chr1:g.155210452dupexon 3FrameshiftPathogenic12/14/201827 [27/0]0.48010
cDNA
change
 i
ic.117T>GProtein
change
 i
p.G39GgDNA
change
 i
chr1:g.155209867A>CLocation iexon 4Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.G39Gchr1:g.155209867A>Cexon 4SilentLikely benign12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.136A>GProtein
change
 i
p.K46EgDNA
change
 i
chr1:g.155209848T>CLocation iexon 4Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
14 [14/0]Internal allele
frequency given at ⨉ 10-3
 i
1.23631
p.K46Echr1:g.155209848T>Cexon 4MissenseUncertain12/14/201814 [14/0]1.23631
cDNA
change
 i
ic.145G>AProtein
change
 i
p.G49SgDNA
change
 i
chr1:g.155209839C>TLocation iexon 4Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
9 [9/0]Internal allele
frequency given at ⨉ 10-3
 i
0.79477
p.G49Schr1:g.155209839C>Texon 4MissenseUncertain12/14/20189 [9/0]0.79477
cDNA
change
 i
ic.152G>TProtein
change
 i
p.S51IgDNA
change
 i
chr1:g.155209832C>ALocation iexon 4Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
9 [2/7]Internal allele
frequency given at ⨉ 10-3
 i
0.28450
p.S51Ichr1:g.155209832C>Aexon 4MissensePathogenic12/14/20189 [2/7]0.28450
cDNA
change
 i
ic.160G>AProtein
change
 i
p.V54MgDNA
change
 i
chr1:g.155209824C>TLocation iexon 4Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
3 [3/0]Internal allele
frequency given at ⨉ 10-3
 i
0.26492
p.V54Mchr1:g.155209824C>Texon 4MissenseUncertain12/14/20183 [3/0]0.26492
cDNA
change
 i
ic.165T>CProtein
change
 i
p.C55CgDNA
change
 i
chr1:g.155209819A>GLocation iexon 4Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.C55Cchr1:g.155209819A>Gexon 4SilentLikely benign12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.168C>TProtein
change
 i
p.V56VgDNA
change
 i
chr1:g.155209816G>ALocation iexon 4Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.08830
p.V56Vchr1:g.155209816G>Aexon 4SilentLikely benign12/14/20181 [1/0]0.08830
cDNA
change
 i
ic.185G>AProtein
change
 i
p.C62YgDNA
change
 i
chr1:g.155209799C>TLocation iexon 4Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.08830
p.C62Ychr1:g.155209799C>Texon 4MissenseUncertain12/14/20181 [1/0]0.08830
cDNA
change
 i
ic.203delProtein
change
 i
p.P68Rfs*23gDNA
change
 i
chr1:g.155209781delLocation iexon 4Coding
effect
 i
FrameshiftClinical
significance
 i
Likely pathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.08830
p.P68Rfs*23chr1:g.155209781delexon 4FrameshiftLikely pathogenic12/14/20181 [1/0]0.08830
cDNA
change
 i
ic.203dupProtein
change
 i
p.T69Dfs*12gDNA
change
 i
chr1:g.155209781dupLocation iexon 4Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
3 [3/0]Internal allele
frequency given at ⨉ 10-3
 i
0.05334
p.T69Dfs*12chr1:g.155209781dupexon 4FrameshiftPathogenic12/14/20183 [3/0]0.05334
cDNA
change
 i
ic.206C>TProtein
change
 i
p.T69IgDNA
change
 i
chr1:g.155209778G>ALocation iexon 4Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.T69Ichr1:g.155209778G>Aexon 4MissenseUncertain12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.222_224delProtein
change
 i
p.T75delgDNA
change
 i
chr1:g.155209760_155209762delLocation iexon 4Coding
effect
 i
In-frameClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
4 [4/0]Internal allele
frequency given at ⨉ 10-3
 i
0.35323
p.T75delchr1:g.155209760_155209762delexon 4In-framePathogenic12/14/20184 [4/0]0.35323
cDNA
change
 i
ic.232C>TProtein
change
 i
p.R78CgDNA
change
 i
chr1:g.155209752G>ALocation iexon 4Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
5 [5/0]Internal allele
frequency given at ⨉ 10-3
 i
0.44154
p.R78Cchr1:g.155209752G>Aexon 4MissenseUncertain12/14/20185 [5/0]0.44154
cDNA
change
 i
ic.247C>TProtein
change
 i
p.R83CgDNA
change
 i
chr1:g.155209737G>ALocation iexon 4Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
5 [5/0]Internal allele
frequency given at ⨉ 10-3
 i
0.08890
p.R83Cchr1:g.155209737G>Aexon 4MissenseUncertain12/14/20185 [5/0]0.08890
cDNA
change
 i
ic.252_257dupProtein
change
 i
p.G85_R86dupgDNA
change
 i
chr1:g.155209727_155209732dupLocation iexon 4Coding
effect
 i
In-frameClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [1/1]Internal allele
frequency given at ⨉ 10-3
 i
0.05334
p.G85_R86dupchr1:g.155209727_155209732dupexon 4In-framePathogenic12/14/20182 [1/1]0.05334
cDNA
change
 i
ic.254G>AProtein
change
 i
p.G85EgDNA
change
 i
chr1:g.155209730C>TLocation iexon 4Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.G85Echr1:g.155209730C>Texon 4MissensePathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.256C>TProtein
change
 i
p.R86XgDNA
change
 i
chr1:g.155209728G>ALocation iexon 4Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.R86Xchr1:g.155209728G>Aexon 4NonsensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.259C>TProtein
change
 i
p.R87WgDNA
change
 i
chr1:g.155209725G>ALocation iexon 4Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
24 [21/3]Internal allele
frequency given at ⨉ 10-3
 i
0.48010
p.R87Wchr1:g.155209725G>Aexon 4MissensePathogenic12/14/201824 [21/3]0.48010
cDNA
change
 i
ic.260G>AProtein
change
 i
p.R87QgDNA
change
 i
chr1:g.155209724C>TLocation iexon 4Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
9 [2/7]Internal allele
frequency given at ⨉ 10-3
 i
0.28450
p.R87Qchr1:g.155209724C>Texon 4MissensePathogenic12/14/20189 [2/7]0.28450
cDNA
change
 i
ic.305C>AProtein
change
 i
p.T102KgDNA
change
 i
chr1:g.155209679G>TLocation iexon 4Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.T102Kchr1:g.155209679G>Texon 4MissenseUncertain12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.322C>TProtein
change
 i
p.L108LgDNA
change
 i
chr1:g.155209539G>ALocation iexon 5Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
3 [3/0]Internal allele
frequency given at ⨉ 10-3
 i
0.05334
p.L108Lchr1:g.155209539G>Aexon 5SilentLikely benign12/14/20183 [3/0]0.05334
cDNA
change
 i
ic.350T>CProtein
change
 i
p.V117AgDNA
change
 i
chr1:g.155209511A>GLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
14 [14/0]Internal allele
frequency given at ⨉ 10-3
 i
0.24894
p.V117Achr1:g.155209511A>Gexon 5MissensePathogenic12/14/201814 [14/0]0.24894
cDNA
change
 i
ic.355G>AProtein
change
 i
p.G119RgDNA
change
 i
chr1:g.155209506C>TLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
Likely pathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
4 [4/0]Internal allele
frequency given at ⨉ 10-3
 i
0.07112
p.G119Rchr1:g.155209506C>Texon 5MissenseLikely pathogenic12/14/20184 [4/0]0.07112
cDNA
change
 i
ic.358T>CProtein
change
 i
p.F120LgDNA
change
 i
chr1:g.155209503A>GLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
Likely pathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.F120Lchr1:g.155209503A>Gexon 5MissenseLikely pathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.367G>AProtein
change
 i
p.A123TgDNA
change
 i
chr1:g.155209494C>TLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.08830
p.A123Tchr1:g.155209494C>Texon 5MissensePathogenic12/14/20181 [1/0]0.08830
cDNA
change
 i
ic.371T>CProtein
change
 i
p.M124TgDNA
change
 i
chr1:g.155209490A>GLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.M124Tchr1:g.155209490A>Gexon 5MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.394A>TProtein
change
 i
p.I132FgDNA
change
 i
chr1:g.155209467T>ALocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.I132Fchr1:g.155209467T>Aexon 5MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.405G>CProtein
change
 i
p.L135LgDNA
change
 i
chr1:g.155209456C>GLocation iexon 5Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.L135Lchr1:g.155209456C>Gexon 5SilentLikely benign12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.408_412delProtein
change
 i
p.P137Cfs*7gDNA
change
 i
chr1:g.155209449_155209453delLocation iexon 5Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
3 [3/0]Internal allele
frequency given at ⨉ 10-3
 i
0.05334
p.P137Cfs*7chr1:g.155209449_155209453delexon 5FrameshiftPathogenic12/14/20183 [3/0]0.05334
cDNA
change
 i
ic.413delProtein
change
 i
p.P138Lfs*62gDNA
change
 i
chr1:g.155209448delLocation iexon 5Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.P138Lfs*62chr1:g.155209448delexon 5FrameshiftPathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.437C>TProtein
change
 i
p.S146LgDNA
change
 i
chr1:g.155209424G>ALocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.S146Lchr1:g.155209424G>Aexon 5MissensePathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.443T>GProtein
change
 i
p.F148CgDNA
change
 i
chr1:g.155209418A>CLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.F148Cchr1:g.155209418A>Cexon 5MissenseUncertain12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.454G>CProtein
change
 i
p.G152RgDNA
change
 i
chr1:g.155209407C>GLocation iexon 5Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.G152Rchr1:g.155209407C>Gexon 5MissensePathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.455_588delProtein
change
 i
p.G152Dfs*65gDNA
change
 i
chr1:g.155208308_155208441delLocation iexon 6Coding
effect
 i
FrameshiftClinical
significance
 i
Likely pathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
3 [3/0]Internal allele
frequency given at ⨉ 10-3
 i
0.05334
p.G152Dfs*65chr1:g.155208308_155208441delexon 6FrameshiftLikely pathogenic12/14/20183 [3/0]0.05334
cDNA
change
 i
ic.463T>CProtein
change
 i
p.Y155HgDNA
change
 i
chr1:g.155208433A>GLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
3 [2/1]Internal allele
frequency given at ⨉ 10-3
 i
0.07112
p.Y155Hchr1:g.155208433A>Gexon 6MissensePathogenic12/14/20183 [2/1]0.07112
cDNA
change
 i
ic.470_482delinsAProtein
change
 i
p.I157_P161delinsNgDNA
change
 i
chr1:g.155208414_155208426delinsTLocation iexon 6Coding
effect
 i
In-frameClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.I157_P161delinsNchr1:g.155208414_155208426delinsTexon 6In-framePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.474C>TProtein
change
 i
p.I158IgDNA
change
 i
chr1:g.155208422G>ALocation iexon 6Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
18 [17/1]Internal allele
frequency given at ⨉ 10-3
 i
0.33784
p.I158Ichr1:g.155208422G>Aexon 6SilentLikely benign12/14/201818 [17/1]0.33784
cDNA
change
 i
ic.475C>TProtein
change
 i
p.R159WgDNA
change
 i
chr1:g.155208421G>ALocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
19 [19/0]Internal allele
frequency given at ⨉ 10-3
 i
0.33784
p.R159Wchr1:g.155208421G>Aexon 6MissensePathogenic12/14/201819 [19/0]0.33784
cDNA
change
 i
ic.476G>AProtein
change
 i
p.R159QgDNA
change
 i
chr1:g.155208420C>TLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.R159Qchr1:g.155208420C>Texon 6MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.477G>TProtein
change
 i
p.R159RgDNA
change
 i
chr1:g.155208419C>ALocation iexon 6Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [1/1]Internal allele
frequency given at ⨉ 10-3
 i
0.05334
p.R159Rchr1:g.155208419C>Aexon 6SilentLikely benign12/14/20182 [1/1]0.05334
cDNA
change
 i
ic.479T>CProtein
change
 i
p.V160AgDNA
change
 i
chr1:g.155208417A>GLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.V160Achr1:g.155208417A>Gexon 6MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.485T>CProtein
change
 i
p.M162TgDNA
change
 i
chr1:g.155208411A>GLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.M162Tchr1:g.155208411A>Gexon 6MissensePathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.490A>TProtein
change
 i
p.S164CgDNA
change
 i
chr1:g.155208406T>ALocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.S164Cchr1:g.155208406T>Aexon 6MissenseLikely benign12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.492C>GProtein
change
 i
p.S164RgDNA
change
 i
chr1:g.155208404G>CLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.S164Rchr1:g.155208404G>Cexon 6MissensePathogenic12/14/20181 [0/1]0.03556
cDNA
change
 i
ic.494G>AProtein
change
 i
p.C165YgDNA
change
 i
chr1:g.155208402C>TLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [1/1]Internal allele
frequency given at ⨉ 10-3
 i
0.05334
p.C165Ychr1:g.155208402C>Texon 6MissensePathogenic12/14/20182 [1/1]0.05334
cDNA
change
 i
ic.508C>TProtein
change
 i
p.R170CgDNA
change
 i
chr1:g.155208388G>ALocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
4 [4/0]Internal allele
frequency given at ⨉ 10-3
 i
0.07112
p.R170Cchr1:g.155208388G>Aexon 6MissensePathogenic12/14/20184 [4/0]0.07112
cDNA
change
 i
ic.509G>AProtein
change
 i
p.R170HgDNA
change
 i
chr1:g.155208387C>TLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
3 [3/0]Internal allele
frequency given at ⨉ 10-3
 i
0.05334
p.R170Hchr1:g.155208387C>Texon 6MissensePathogenic12/14/20183 [3/0]0.05334
cDNA
change
 i
ic.509G>TProtein
change
 i
p.R170LgDNA
change
 i
chr1:g.155208387C>ALocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.R170Lchr1:g.155208387C>Aexon 6MissensePathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.517A>CProtein
change
 i
p.T173PgDNA
change
 i
chr1:g.155208379T>GLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.08830
p.T173Pchr1:g.155208379T>Gexon 6MissensePathogenic12/14/20181 [1/0]0.08830
cDNA
change
 i
ic.518C>AProtein
change
 i
p.T173NgDNA
change
 i
chr1:g.155208378G>TLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
3 [2/1]Internal allele
frequency given at ⨉ 10-3
 i
0.07112
p.T173Nchr1:g.155208378G>Texon 6MissensePathogenic12/14/20183 [2/1]0.07112
cDNA
change
 i
ic.518C>TProtein
change
 i
p.T173IgDNA
change
 i
chr1:g.155208378G>ALocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.T173Ichr1:g.155208378G>Aexon 6MissensePathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.520dupProtein
change
 i
p.Y174Lfs*6gDNA
change
 i
chr1:g.155208376dupLocation iexon 6Coding
effect
 i
FrameshiftClinical
significance
 i
Likely pathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.08830
p.Y174Lfs*6chr1:g.155208376dupexon 6FrameshiftLikely pathogenic12/14/20181 [1/0]0.08830
cDNA
change
 i
ic.534delProtein
change
 i
p.D179Mfs*21gDNA
change
 i
chr1:g.155208362delLocation iexon 6Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.D179Mfs*21chr1:g.155208362delexon 6FrameshiftPathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.535G>CProtein
change
 i
p.D179HgDNA
change
 i
chr1:g.155208361C>GLocation iexon 6Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.D179Hchr1:g.155208361C>Gexon 6MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.544C>TProtein
change
 i
p.Q182XgDNA
change
 i
chr1:g.155208352G>ALocation iexon 6Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.08830
p.Q182Xchr1:g.155208352G>Aexon 6NonsensePathogenic12/14/20181 [1/0]0.08830
cDNA
change
 i
ic.546G>AProtein
change
 i
p.Q182QgDNA
change
 i
chr1:g.155208350C>TLocation iexon 6Coding
effect
 i
SilentClinical
significance
 i
BenignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
12 [12/0]Internal allele
frequency given at ⨉ 10-3
 i
0.21337
p.Q182Qchr1:g.155208350C>Texon 6SilentBenign12/14/201812 [12/0]0.21337
cDNA
change
 i
ic.563delProtein
change
 i
p.L188Pfs*12gDNA
change
 i
chr1:g.155208333delLocation iexon 6Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.L188Pfs*12chr1:g.155208333delexon 6FrameshiftPathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.592C>TProtein
change
 i
p.P198SgDNA
change
 i
chr1:g.155208094G>ALocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.P198Schr1:g.155208094G>Aexon 7MissensePathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.595_596delProtein
change
 i
p.L199Dfs*62gDNA
change
 i
chr1:g.155208090_155208091delLocation iexon 7Coding
effect
 i
FrameshiftClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
28 [28/0]Internal allele
frequency given at ⨉ 10-3
 i
0.49788
p.L199Dfs*62chr1:g.155208090_155208091delexon 7FrameshiftPathogenic12/14/201828 [28/0]0.49788
cDNA
change
 i
ic.602A>CProtein
change
 i
p.H201PgDNA
change
 i
chr1:g.155208084T>GLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.17661
p.H201Pchr1:g.155208084T>Gexon 7MissensePathogenic12/14/20182 [2/0]0.17661
cDNA
change
 i
ic.604C>TProtein
change
 i
p.R202XgDNA
change
 i
chr1:g.155208082G>ALocation iexon 7Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
4 [4/0]Internal allele
frequency given at ⨉ 10-3
 i
0.07112
p.R202Xchr1:g.155208082G>Aexon 7NonsensePathogenic12/14/20184 [4/0]0.07112
cDNA
change
 i
ic.605G>AProtein
change
 i
p.R202QgDNA
change
 i
chr1:g.155208081C>TLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
5 [5/0]Internal allele
frequency given at ⨉ 10-3
 i
0.08890
p.R202Qchr1:g.155208081C>Texon 7MissenseUncertain12/14/20185 [5/0]0.08890
cDNA
change
 i
ic.613C>TProtein
change
 i
p.Q205XgDNA
change
 i
chr1:g.155208073G>ALocation iexon 7Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.Q205Xchr1:g.155208073G>Aexon 7NonsensePathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.625C>TProtein
change
 i
p.R209CgDNA
change
 i
chr1:g.155208061G>ALocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.R209Cchr1:g.155208061G>Aexon 7MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.630C>TProtein
change
 i
p.P210PgDNA
change
 i
chr1:g.155208056G>ALocation iexon 7Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
7 [7/0]Internal allele
frequency given at ⨉ 10-3
 i
0.12447
p.P210Pchr1:g.155208056G>Aexon 7SilentLikely benign12/14/20187 [7/0]0.12447
cDNA
change
 i
ic.634T>AProtein
change
 i
p.S212TgDNA
change
 i
chr1:g.155208052A>TLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.S212Tchr1:g.155208052A>Texon 7MissenseUncertain12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.634T>CProtein
change
 i
p.S212PgDNA
change
 i
chr1:g.155208052A>GLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.S212Pchr1:g.155208052A>Gexon 7MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.635C>GProtein
change
 i
p.S212XgDNA
change
 i
chr1:g.155208051G>CLocation iexon 7Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.S212Xchr1:g.155208051G>Cexon 7NonsensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.644C>AProtein
change
 i
p.A215DgDNA
change
 i
chr1:g.155208042G>TLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.A215Dchr1:g.155208042G>Texon 7MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.653G>AProtein
change
 i
p.W218XgDNA
change
 i
chr1:g.155208033C>TLocation iexon 7Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.W218Xchr1:g.155208033C>Texon 7NonsensePathogenic12/14/20181 [0/1]0.03556
cDNA
change
 i
ic.653G>TProtein
change
 i
p.W218LgDNA
change
 i
chr1:g.155208033C>ALocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
Likely pathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.W218Lchr1:g.155208033C>Aexon 7MissenseLikely pathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.661C>AProtein
change
 i
p.P221TgDNA
change
 i
chr1:g.155208025G>TLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
Likely pathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.P221Tchr1:g.155208025G>Texon 7MissenseLikely pathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.661C>TProtein
change
 i
p.P221SgDNA
change
 i
chr1:g.155208025G>ALocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
Likely pathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.P221Schr1:g.155208025G>Aexon 7MissenseLikely pathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.667T>CProtein
change
 i
p.W223RgDNA
change
 i
chr1:g.155208019A>GLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
6 [6/0]Internal allele
frequency given at ⨉ 10-3
 i
0.10668
p.W223Rchr1:g.155208019A>Gexon 7MissensePathogenic12/14/20186 [6/0]0.10668
cDNA
change
 i
ic.674A>GProtein
change
 i
p.K225RgDNA
change
 i
chr1:g.155208012T>CLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.K225Rchr1:g.155208012T>Cexon 7MissensePathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.677C>TProtein
change
 i
p.T226IgDNA
change
 i
chr1:g.155208009G>ALocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.T226Ichr1:g.155208009G>Aexon 7MissensePathogenic12/14/20181 [0/1]0.03556
cDNA
change
 i
ic.680A>GProtein
change
 i
p.N227SgDNA
change
 i
chr1:g.155208006T>CLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
4 [4/0]Internal allele
frequency given at ⨉ 10-3
 i
0.07112
p.N227Schr1:g.155208006T>Cexon 7MissensePathogenic12/14/20184 [4/0]0.07112
cDNA
change
 i
ic.680A>TProtein
change
 i
p.N227IgDNA
change
 i
chr1:g.155208006T>ALocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.N227Ichr1:g.155208006T>Aexon 7MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.681T>GProtein
change
 i
p.N227KgDNA
change
 i
chr1:g.155208005A>CLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
4 [4/0]Internal allele
frequency given at ⨉ 10-3
 i
0.07112
p.N227Kchr1:g.155208005A>Cexon 7MissensePathogenic12/14/20184 [4/0]0.07112
cDNA
change
 i
ic.685G>AProtein
change
 i
p.A229TgDNA
change
 i
chr1:g.155208001C>TLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.A229Tchr1:g.155208001C>Texon 7MissensePathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.689T>GProtein
change
 i
p.V230GgDNA
change
 i
chr1:g.155207997A>CLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.V230Gchr1:g.155207997A>Cexon 7MissensePathogenic12/14/20181 [0/1]0.03556
cDNA
change
 i
ic.695G>AProtein
change
 i
p.G232EgDNA
change
 i
chr1:g.155207991C>TLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.08830
p.G232Echr1:g.155207991C>Texon 7MissenseUncertain12/14/20181 [1/0]0.08830
cDNA
change
 i
ic.700G>TProtein
change
 i
p.G234WgDNA
change
 i
chr1:g.155207986C>ALocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
4 [4/0]Internal allele
frequency given at ⨉ 10-3
 i
0.07112
p.G234Wchr1:g.155207986C>Aexon 7MissensePathogenic12/14/20184 [4/0]0.07112
cDNA
change
 i
ic.701G>AProtein
change
 i
p.G234EgDNA
change
 i
chr1:g.155207985C>TLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.G234Echr1:g.155207985C>Texon 7MissensePathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.703T>AProtein
change
 i
p.S235TgDNA
change
 i
chr1:g.155207983A>TLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
BenignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.S235Tchr1:g.155207983A>Texon 7MissenseBenign12/14/20181 [0/1]0.03556
cDNA
change
 i
ic.703T>CProtein
change
 i
p.S235PgDNA
change
 i
chr1:g.155207983A>GLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
3 [3/0]Internal allele
frequency given at ⨉ 10-3
 i
0.05334
p.S235Pchr1:g.155207983A>Gexon 7MissensePathogenic12/14/20183 [3/0]0.05334
cDNA
change
 i
ic.709A>GProtein
change
 i
p.K237EgDNA
change
 i
chr1:g.155207977T>CLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
39 [38/1]Internal allele
frequency given at ⨉ 10-3
 i
0.71126
p.K237Echr1:g.155207977T>Cexon 7MissensePathogenic12/14/201839 [38/1]0.71126
cDNA
change
 i
ic.710A>CProtein
change
 i
p.K237TgDNA
change
 i
chr1:g.155207976T>GLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [1/1]Internal allele
frequency given at ⨉ 10-3
 i
0.26492
p.K237Tchr1:g.155207976T>Gexon 7MissensePathogenic12/14/20182 [1/1]0.26492
cDNA
change
 i
ic.721G>AProtein
change
 i
p.G241RgDNA
change
 i
chr1:g.155207965C>TLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
18 [16/2]Internal allele
frequency given at ⨉ 10-3
 i
0.35563
p.G241Rchr1:g.155207965C>Texon 7MissensePathogenic12/14/201818 [16/2]0.35563
cDNA
change
 i
ic.731A>GProtein
change
 i
p.Y244CgDNA
change
 i
chr1:g.155207955T>CLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.Y244Cchr1:g.155207955T>Cexon 7MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.751T>CProtein
change
 i
p.Y251HgDNA
change
 i
chr1:g.155207935A>GLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.Y251Hchr1:g.155207935A>Gexon 7MissensePathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.754T>AProtein
change
 i
p.F252IgDNA
change
 i
chr1:g.155207932A>TLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
24 [16/8]Internal allele
frequency given at ⨉ 10-3
 i
0.56901
p.F252Ichr1:g.155207932A>Texon 7MissensePathogenic12/14/201824 [16/8]0.56901
cDNA
change
 i
ic.761A>GProtein
change
 i
p.K254RgDNA
change
 i
chr1:g.155207925T>CLocation iexon 7Coding
effect
 i
MissenseClinical
significance
 i
UncertainLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.K254Rchr1:g.155207925T>Cexon 7MissenseUncertain12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.764T>AProtein
change
 i
p.F255YgDNA
change
 i
chr1:g.155207367A>TLocation iexon 8Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.F255Ychr1:g.155207367A>Texon 8MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.798C>GProtein
change
 i
p.F266LgDNA
change
 i
chr1:g.155207333G>CLocation iexon 8Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
4 [3/1]Internal allele
frequency given at ⨉ 10-3
 i
0.08890
p.F266Lchr1:g.155207333G>Cexon 8MissensePathogenic12/14/20184 [3/1]0.08890
cDNA
change
 i
ic.802G>AProtein
change
 i
p.A268TgDNA
change
 i
chr1:g.155207329C>TLocation iexon 8Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
6 [6/0]Internal allele
frequency given at ⨉ 10-3
 i
0.10668
p.A268Tchr1:g.155207329C>Texon 8MissensePathogenic12/14/20186 [6/0]0.10668
cDNA
change
 i
ic.804A>GProtein
change
 i
p.A268AgDNA
change
 i
chr1:g.155207327T>CLocation iexon 8Coding
effect
 i
SilentClinical
significance
 i
Likely benignLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
3 [3/0]Internal allele
frequency given at ⨉ 10-3
 i
0.05334
p.A268Achr1:g.155207327T>Cexon 8SilentLikely benign12/14/20183 [3/0]0.05334
cDNA
change
 i
ic.809C>GProtein
change
 i
p.T270RgDNA
change
 i
chr1:g.155207322G>CLocation iexon 8Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.T270Rchr1:g.155207322G>Cexon 8MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.809C>TProtein
change
 i
p.T270IgDNA
change
 i
chr1:g.155207322G>ALocation iexon 8Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
2 [2/0]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.T270Ichr1:g.155207322G>Aexon 8MissensePathogenic12/14/20182 [2/0]0.03556
cDNA
change
 i
ic.820G>AProtein
change
 i
p.E274KgDNA
change
 i
chr1:g.155207311C>TLocation iexon 8Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
3 [2/1]Internal allele
frequency given at ⨉ 10-3
 i
0.07112
p.E274Kchr1:g.155207311C>Texon 8MissensePathogenic12/14/20183 [2/1]0.07112
cDNA
change
 i
ic.827C>TProtein
change
 i
p.S276FgDNA
change
 i
chr1:g.155207304G>ALocation iexon 8Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
5 [2/3]Internal allele
frequency given at ⨉ 10-3
 i
0.14225
p.S276Fchr1:g.155207304G>Aexon 8MissensePathogenic12/14/20185 [2/3]0.14225
cDNA
change
 i
ic.847T>CProtein
change
 i
p.Y283HgDNA
change
 i
chr1:g.155207284A>GLocation iexon 8Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
6 [3/3]Internal allele
frequency given at ⨉ 10-3
 i
0.16003
p.Y283Hchr1:g.155207284A>Gexon 8MissensePathogenic12/14/20186 [3/3]0.16003
cDNA
change
 i
ic.849C>AProtein
change
 i
p.Y283XgDNA
change
 i
chr1:g.155207282G>TLocation iexon 8Coding
effect
 i
NonsenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.Y283Xchr1:g.155207282G>Texon 8NonsensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.851C>AProtein
change
 i
p.P284HgDNA
change
 i
chr1:g.155207280G>TLocation iexon 8Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [1/0]Internal allele
frequency given at ⨉ 10-3
 i
0.01778
p.P284Hchr1:g.155207280G>Texon 8MissensePathogenic12/14/20181 [1/0]0.01778
cDNA
change
 i
ic.854T>CProtein
change
 i
p.F285SgDNA
change
 i
chr1:g.155207277A>GLocation iexon 8Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
1 [0/1]Internal allele
frequency given at ⨉ 10-3
 i
0.03556
p.F285Schr1:g.155207277A>Gexon 8MissensePathogenic12/14/20181 [0/1]0.03556
cDNA
change
 i
ic.860G>TProtein
change
 i
p.C287FgDNA
change
 i
chr1:g.155207271C>ALocation iexon 8Coding
effect
 i
MissenseClinical
significance
 i
PathogenicLast
review
 i
12/14/2018Individuals
[Het/Hom]
 i
4 [4/0]Internal allele
frequency given at ⨉ 10-3
 i
0.07112
p.C287Fchr1:g.155207271C>Aexon 8MissensePathogenic12/14/20184 [4/0]0.07112
cDNA
change
 i
ic.876delProtein
change
 i
p.E293Nfs*11gDNA
change
 i
chr1:g.155207255delLocation iexon 8Coding
effect
 i
FrameshiftClinical
significance
 i
Likely pathogenicLast
review
 i