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Results for "Shi2013"

Variant Events: 118

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
NOTCH2     Shi2013:1chr1:
120459206-120459206		GAexonicInheritednonsynonymous SNVNM_024408c.C6139Tp.R2047W15.591.651E-5Shi2013 G
DCTN1     Shi2013:1chr2:
74597921-74597921		CTexonicInheritednonsynonymous SNVNM_001135041
NM_023019
NM_001135040
NM_001190836
NM_001190837
NM_004082		c.G473A
c.G473A
c.G815A
c.G764A
c.G854A
c.G875A		p.R158H
p.R158H
p.R272H
p.R255H
p.R285H
p.R292H		16.991.652E-5Shi2013 G
CCR5     Shi2013:1chr3:
46414709-46414709		GAexonicInheritednonsynonymous SNVNM_000579
NM_001100168		c.G316A
c.G316A		p.G106R
p.G106R		18.274.0E-4Shi2013 G
TKT     Shi2013:1chr3:
53263112-53263112		TCexonicInheritednonsynonymous SNVNM_001064
NM_001135055
NM_001258028		c.A1306G
c.A1306G
c.A1330G		p.M436V
p.M436V
p.M444V		21.70.0018Shi2013 G
CWC22     Shi2013:1chr2:
180853362-180853362		CAexonicInheritednonsynonymous SNVNM_020943c.G37Tp.G13C18.584.0E-4Shi2013 G
PLCD4     Shi2013:1chr2:
219500606-219500606		GAexonicInheritednonsynonymous SNVNM_032726c.G1984Ap.V662I12.53.0E-4Shi2013 G
P2RY13     Shi2013:1chr3:
151047282-151047282		CTexonicInheritednonsynonymous SNVNM_176894c.G35Ap.S12N12.43-Shi2013 G
MUC4     Shi2013:1chr3:
195510850-195510850		GTexonicInheritednonsynonymous SNVNM_018406c.C7601Ap.A2534D9.8835.0E-4Shi2013 G
ZNF717     Shi2013:1chr3:
75788152-75788152		TGCexonicInheritedframeshift substitutionNM_001128223
NM_001290208
NM_001290209		c.622_622delinsGC
c.622_622delinsGC
c.472_472delinsGC		N/A
N/A
N/A		--Shi2013 G
CEP97     Shi2013:1chr3:
101476648-101476648		TCexonicInheritednonsynonymous SNVNM_024548c.T1198Cp.S400P23.3-Shi2013 G
LRIT3     Shi2013:1chr4:
110772995-110772995		AGexonicInheritednonsynonymous SNVNM_198506c.A452Gp.Y151C11.114.585E-5Shi2013 G
ICE1     Shi2013:1chr5:
5457476-5457476		ATexonicInheritednonsynonymous SNVNM_015325c.A723Tp.R241S13.886.146E-5Shi2013 G
NFXL1     Shi2013:1chr4:
47916214-47916214		CTexonicInheritednonsynonymous SNVNM_001278623
NM_001278624
NM_152995		c.G7A
c.G7A
c.G7A		p.A3T
p.A3T
p.A3T		23.52.0E-4Shi2013 G
INTS12     Shi2013:1chr4:
106621056-106621056		TCexonicInheritednonsynonymous SNVNM_001142471
NM_020395		c.A107G
c.A107G		p.D36G
p.D36G		28.4-Shi2013 G
ERAP1     Shi2013:1chr5:
96124317-96124318		TATexonicInheritedframeshift deletionNM_001040458
NM_001198541
NM_016442		c.1595delT
c.1595delT
c.1595delT		p.L532fs
p.L532fs
p.L532fs		-4.0E-4Shi2013 G
P4HA2     Shi2013:1chr5:
131545995-131545995		GAexonicInheritednonsynonymous SNVNM_001017973
NM_001017974
NM_004199
NM_001142598
NM_001142599		c.C691T
c.C691T
c.C691T
c.C691T
c.C691T		p.R231C
p.R231C
p.R231C
p.R231C
p.R231C		16.964.119E-5Shi2013 G
NIPBL     Shi2013:1chr5:
36985732-36985732		ATexonicInheritednonsynonymous SNVNM_015384
NM_133433		c.A2450T
c.A2450T		p.D817V
p.D817V		16.28-Shi2013 G
NLN     Shi2013:1chr5:
65088405-65088405		CTexonicInheritednonsynonymous SNVNM_020726c.C1450Tp.P484S28.44.942E-5Shi2013 G
EFHC1     Shi2013:1chr6:
52303274-52303274		GAexonicInheritednonsynonymous SNVNM_018100
NM_001172420		c.G458A
c.G401A		p.R153Q
p.R134Q		21.11.651E-5Shi2013 G
DOPEY1     Shi2013:1chr6:
83877729-83877729		GAexonicInheritednonsynonymous SNVNM_015018
NM_001199942		c.G7241A
c.G7274A		p.R2414Q
p.R2425Q		17.424.0E-4Shi2013 G
PCDHGA11     Shi2013:1chr5:
140801083-140801083		TGexonicInheritednonsynonymous SNVNM_018914
NM_032091
NM_032092		c.T289G
c.T289G
c.T289G		p.C97G
p.C97G
p.C97G		21.06.654E-5Shi2013 G
HAVCR2     Shi2013:1chr5:
156533787-156533787		TCexonicInheritednonsynonymous SNVNM_032782c.A245Gp.Y82C20.20.0035Shi2013 G
ZNF727     Shi2013:1chr7:
63538687-63538687		ATexonicInheritednonsynonymous SNVNM_001159522c.A1260Tp.E420D8.951.0E-4Shi2013 G
CPA2     Shi2013:1chr7:
129919426-129919426		CTexonicInheritednonsynonymous SNVNM_001869c.C911Tp.T304I23.3-Shi2013 G
RFX6     Shi2013:1chr6:
117248565-117248565		CTexonicInheritednonsynonymous SNVNM_173560c.C2261Tp.P754L14.928.255E-5Shi2013 G
DNAH11     Shi2013:1chr7:
21904177-21904177		GCexonicInheritednonsynonymous SNVNM_001277115c.G11398Cp.D3800H13.42.489E-5Shi2013 G
HAUS6     Shi2013:1chr9:
19076692-19076692		ATexonicInheritednonsynonymous SNVNM_001270890
NM_017645		c.T1097A
c.T1202A		p.L366H
p.L401H		19.671.0E-4Shi2013 G
SPATA31D1     Shi2013:1chr9:
84607127-84607127		TAexonicInheritednonsynonymous SNVNM_001001670c.T1742Ap.L581Q0.013-Shi2013 G
PSD3     Shi2013:1chr8:
18656816-18656816		GTexonicInheritednonsynonymous SNVNM_206909
NM_015310		c.C469A
c.C2071A		p.L157I
p.L691I		20.3-Shi2013 G
PTK2B     Shi2013:1chr8:
27291015-27291015		TCexonicInheritednonsynonymous SNVNM_173175
NM_173176
NM_004103
NM_173174		c.T1051C
c.T1051C
c.T1051C
c.T1051C		p.Y351H
p.Y351H
p.Y351H
p.Y351H		24.88.249E-6Shi2013 G
ANK3     Shi2013:1chr10:
61829571-61829571		CTexonicInheritednonsynonymous SNVNM_020987c.G11068Ap.G3690R12.53-Shi2013 G
LIPK     Shi2013:1chr10:
90490886-90490886		TAexonicInheritednonsynonymous SNVNM_001080518c.T370Ap.S124T26.52.0E-4Shi2013 G
DPP7     Shi2013:1chr9:
140007466-140007466		GAexonicInheritednonsynonymous SNVNM_013379c.C809Tp.A270V23.09.0E-4Shi2013 G
WDFY4     Shi2013:1chr10:
50038901-50038901		CTexonicInheritednonsynonymous SNVNM_020945c.C6497Tp.T2166M11.28-Shi2013 G
MAML2     Shi2013:1chr11:
95724805-95724805		TCexonicInheritednonsynonymous SNVNM_032427c.A2222Gp.Y741C17.914.971E-5Shi2013 G
CACNA2D4     Shi2013:1chr12:
1967743-1967743		CTexonicInheritednonsynonymous SNVNM_172364c.G2008Ap.G670S26.89.152E-5Shi2013 G
MUC6     Shi2013:1chr11:
1018095-1018095		GTAexonicInheritedframeshift substitutionNM_005961c.4706_4706delinsTAN/A--Shi2013 G
MYO7A     Shi2013:1chr11:
76909548-76909548		CAexonicInheritednonsynonymous SNVNM_000260
NM_001127180		c.C4450A
c.C4450A		p.L1484I
p.L1484I		22.18.334E-6Shi2013 G
SPTB     Shi2013:1chr14:
65237675-65237675		AGexonicInheritednonsynonymous SNVNM_000347
NM_001024858		c.T5726C
c.T5726C		p.F1909S
p.F1909S		27.61.0E-4Shi2013 G
ZC2HC1C     Shi2013:1chr14:
75537322-75537322		AAAexonicInheritedframeshift insertionNM_001042430
NM_024643		c.46dupA
c.46dupA		p.M16fs
p.M16fs		--Shi2013 G
KNTC1     Shi2013:1chr12:
123067384-123067384		AGexonicInheritednonsynonymous SNVNM_014708c.A3115Gp.I1039V0.0066.0E-4Shi2013 G
ABHD12B     Shi2013:1chr14:
51344693-51344693		TCexonicInheritednonsynonymous SNVNM_001206673c.T128Cp.M43T0.017-Shi2013 G
THSD4     Shi2013:1chr15:
71507377-71507377		CTexonicInheritednonsynonymous SNVNM_024817c.C103Tp.P35S15.659.0E-4Shi2013 G
GEMIN4     Shi2013:1chr17:
650309-650309		CTexonicInheritednonsynonymous SNVNM_015721c.G974Ap.R325Q10.780.0016Shi2013 G
AHNAK2     Shi2013:1chr14:
105406648-105406648		GAexonicInheritednonsynonymous SNVNM_138420c.C15140Tp.P5047L14.994.143E-5Shi2013 G
BAHD1     Shi2013:1chr15:
40751592-40751592		TAexonicInheritednonsynonymous SNVNM_001301132
NM_014952		c.T929A
c.T929A		p.L310Q
p.L310Q		16.244.218E-5Shi2013 G
COASY     Shi2013:1chr17:
40714796-40714796		GCexonicInheritednonsynonymous SNVNM_025233
NM_001042529
NM_001042532		c.G156C
c.G156C
c.G243C		p.Q52H
p.Q52H
p.Q81H		26.14.0E-4Shi2013 G
DNAH17     Shi2013:1chr17:
76455168-76455168		GAexonicInheritednonsynonymous SNVNM_173628c.C9776Tp.A3259V18.920.0014Shi2013 G
PROCA1     Shi2013:1chr17:
27030631-27030631		GGGexonicInheritedframeshift insertionNM_001304951
NM_001304954
NM_152465
NM_001304949
NM_001304952
NM_001304953		c.608dupC
c.740dupC
c.956dupC
c.929dupC
c.962dupC
c.740dupC		p.A203fs
p.A247fs
p.A319fs
p.A310fs
p.A321fs
p.A247fs		--Shi2013 G
KRTAP16-1     Shi2013:1chr17:
39465405-39465405		GAexonicInheritednonsynonymous SNVNM_001146182c.C101Tp.S34F19.94-Shi2013 G
RASAL3     Shi2013:1chr19:
15565549-15565549		GAexonicInheritednonsynonymous SNVNM_022904c.C1877Tp.A626V5.4933.0E-4Shi2013 G
SIGLEC12     Shi2013:1chr19:
52004795-52004795		GCTexonicInheritedframeshift substitutionNM_053003c.193_193delinsAGN/A--Shi2013 G
ABCA7     Shi2013:1chr19:
1064171-1064171		GTexonicInheritednonsynonymous SNVNM_019112c.G5963Tp.C1988F17.015.0E-4Shi2013 G
PLIN4     Shi2013:1chr19:
4504602-4504602		GAexonicInheritednonsynonymous SNVNM_001080400c.C3943Tp.R1315W10.425.0E-4Shi2013 G
CNBD1     Shi2013:1chr8:
88218368-88218368		TCsplicingInheritedsplicing12.056.076E-5Shi2013 G
GBA2     Shi2013:1chr9:
35741063-35741063		TCsplicingInheritedsplicing21.8-Shi2013 G
ZNF534     Shi2013:1chr19:
52938462-52938462		GAexonicInheritednonsynonymous SNVNM_001143938
NM_001143939
NM_001291368		c.G271A
c.G310A
c.G271A		p.E91K
p.E104K
p.D91N		3.053-Shi2013 G
ASMT     Shi2013:1chrX:
1734136-1734136		ACexonicInheritednonsynonymous SNVNM_001171038
NM_001171039
NM_004043		c.A44C
c.A44C
c.A44C		p.Y15S
p.Y15S
p.Y15S		11.420.0018Shi2013 G
DCTN1     Shi2013:2chr2:
74597921-74597921		CTexonicInheritednonsynonymous SNVNM_001135041
NM_023019
NM_001135040
NM_001190836
NM_001190837
NM_004082		c.G473A
c.G473A
c.G815A
c.G764A
c.G854A
c.G875A		p.R158H
p.R158H
p.R272H
p.R255H
p.R285H
p.R292H		16.991.652E-5Shi2013 G
CWC22     Shi2013:2chr2:
180853362-180853362		CAexonicInheritednonsynonymous SNVNM_020943c.G37Tp.G13C18.584.0E-4Shi2013 G
EMG1       Shi2013:1chr12:
7080212-7080212		TGCsplicingInheritedsplicing--Shi2013 G
NOTCH2     Shi2013:2chr1:
120459206-120459206		GAexonicInheritednonsynonymous SNVNM_024408c.C6139Tp.R2047W15.591.651E-5Shi2013 G
TKT     Shi2013:2chr3:
53263112-53263112		TCexonicInheritednonsynonymous SNVNM_001064
NM_001135055
NM_001258028		c.A1306G
c.A1306G
c.A1330G		p.M436V
p.M436V
p.M444V		21.70.0018Shi2013 G
ZNF717     Shi2013:2chr3:
75788152-75788152		TGCexonicInheritedframeshift substitutionNM_001128223
NM_001290208
NM_001290209		c.622_622delinsGC
c.622_622delinsGC
c.472_472delinsGC		N/A
N/A
N/A		--Shi2013 G
PLCD4     Shi2013:2chr2:
219500606-219500606		GAexonicInheritednonsynonymous SNVNM_032726c.G1984Ap.V662I12.53.0E-4Shi2013 G
CCR5     Shi2013:2chr3:
46414709-46414709		GAexonicInheritednonsynonymous SNVNM_000579
NM_001100168		c.G316A
c.G316A		p.G106R
p.G106R		18.274.0E-4Shi2013 G
MUC4     Shi2013:2chr3:
195510850-195510850		GTexonicInheritednonsynonymous SNVNM_018406c.C7601Ap.A2534D9.8835.0E-4Shi2013 G
NFXL1     Shi2013:2chr4:
47916214-47916214		CTexonicInheritednonsynonymous SNVNM_001278623
NM_001278624
NM_152995		c.G7A
c.G7A
c.G7A		p.A3T
p.A3T
p.A3T		23.52.0E-4Shi2013 G
CEP97     Shi2013:2chr3:
101476648-101476648		TCexonicInheritednonsynonymous SNVNM_024548c.T1198Cp.S400P23.3-Shi2013 G
P2RY13     Shi2013:2chr3:
151047282-151047282		CTexonicInheritednonsynonymous SNVNM_176894c.G35Ap.S12N12.43-Shi2013 G
ICE1     Shi2013:2chr5:
5457476-5457476		ATexonicInheritednonsynonymous SNVNM_015325c.A723Tp.R241S13.886.146E-5Shi2013 G
NIPBL     Shi2013:2chr5:
36985732-36985732		ATexonicInheritednonsynonymous SNVNM_015384
NM_133433		c.A2450T
c.A2450T		p.D817V
p.D817V		16.28-Shi2013 G
INTS12     Shi2013:2chr4:
106621056-106621056		TCexonicInheritednonsynonymous SNVNM_001142471
NM_020395		c.A107G
c.A107G		p.D36G
p.D36G		28.4-Shi2013 G
LRIT3     Shi2013:2chr4:
110772995-110772995		AGexonicInheritednonsynonymous SNVNM_198506c.A452Gp.Y151C11.114.585E-5Shi2013 G
P4HA2     Shi2013:2chr5:
131545995-131545995		GAexonicInheritednonsynonymous SNVNM_001017973
NM_001017974
NM_004199
NM_001142598
NM_001142599		c.C691T
c.C691T
c.C691T
c.C691T
c.C691T		p.R231C
p.R231C
p.R231C
p.R231C
p.R231C		16.964.119E-5Shi2013 G
PCDHGA11     Shi2013:2chr5:
140801083-140801083		TGexonicInheritednonsynonymous SNVNM_018914
NM_032091
NM_032092		c.T289G
c.T289G
c.T289G		p.C97G
p.C97G
p.C97G		21.06.654E-5Shi2013 G
NLN     Shi2013:2chr5:
65088405-65088405		CTexonicInheritednonsynonymous SNVNM_020726c.C1450Tp.P484S28.44.942E-5Shi2013 G
ERAP1     Shi2013:2chr5:
96124317-96124318		TATexonicInheritedframeshift deletionNM_001040458
NM_001198541
NM_016442		c.1595delT
c.1595delT
c.1595delT		p.L532fs
p.L532fs
p.L532fs		-4.0E-4Shi2013 G
DOPEY1     Shi2013:2chr6:
83877729-83877729		GAexonicInheritednonsynonymous SNVNM_015018
NM_001199942		c.G7241A
c.G7274A		p.R2414Q
p.R2425Q		17.424.0E-4Shi2013 G
RFX6     Shi2013:2chr6:
117248565-117248565		CTexonicInheritednonsynonymous SNVNM_173560c.C2261Tp.P754L14.928.255E-5Shi2013 G
HAVCR2     Shi2013:2chr5:
156533787-156533787		TCexonicInheritednonsynonymous SNVNM_032782c.A245Gp.Y82C20.20.0035Shi2013 G
EFHC1     Shi2013:2chr6:
52303274-52303274		GAexonicInheritednonsynonymous SNVNM_018100
NM_001172420		c.G458A
c.G401A		p.R153Q
p.R134Q		21.11.651E-5Shi2013 G
CPA2     Shi2013:2chr7:
129919426-129919426		CTexonicInheritednonsynonymous SNVNM_001869c.C911Tp.T304I23.3-Shi2013 G
PSD3     Shi2013:2chr8:
18656816-18656816		GTexonicInheritednonsynonymous SNVNM_206909
NM_015310		c.C469A
c.C2071A		p.L157I
p.L691I		20.3-Shi2013 G
DNAH11     Shi2013:2chr7:
21904177-21904177		GCexonicInheritednonsynonymous SNVNM_001277115c.G11398Cp.D3800H13.42.489E-5Shi2013 G
ZNF727     Shi2013:2chr7:
63538687-63538687		ATexonicInheritednonsynonymous SNVNM_001159522c.A1260Tp.E420D8.951.0E-4Shi2013 G
SPATA31D1     Shi2013:2chr9:
84607127-84607127		TAexonicInheritednonsynonymous SNVNM_001001670c.T1742Ap.L581Q0.013-Shi2013 G
DPP7     Shi2013:2chr9:
140007466-140007466		GAexonicInheritednonsynonymous SNVNM_013379c.C809Tp.A270V23.09.0E-4Shi2013 G
PTK2B     Shi2013:2chr8:
27291015-27291015		TCexonicInheritednonsynonymous SNVNM_173175
NM_173176
NM_004103
NM_173174		c.T1051C
c.T1051C
c.T1051C
c.T1051C		p.Y351H
p.Y351H
p.Y351H
p.Y351H		24.88.249E-6Shi2013 G
HAUS6     Shi2013:2chr9:
19076692-19076692		ATexonicInheritednonsynonymous SNVNM_001270890
NM_017645		c.T1097A
c.T1202A		p.L366H
p.L401H		19.671.0E-4Shi2013 G
LIPK     Shi2013:2chr10:
90490886-90490886		TAexonicInheritednonsynonymous SNVNM_001080518c.T370Ap.S124T26.52.0E-4Shi2013 G
MUC6     Shi2013:2chr11:
1018095-1018095		GTAexonicInheritedframeshift substitutionNM_005961c.4706_4706delinsTAN/A--Shi2013 G
WDFY4     Shi2013:2chr10:
50038901-50038901		CTexonicInheritednonsynonymous SNVNM_020945c.C6497Tp.T2166M11.28-Shi2013 G
ANK3     Shi2013:2chr10:
61829571-61829571		CTexonicInheritednonsynonymous SNVNM_020987c.G11068Ap.G3690R12.53-Shi2013 G
CACNA2D4     Shi2013:2chr12:
1967743-1967743		CTexonicInheritednonsynonymous SNVNM_172364c.G2008Ap.G670S26.89.152E-5Shi2013 G
KNTC1     Shi2013:2chr12:
123067384-123067384		AGexonicInheritednonsynonymous SNVNM_014708c.A3115Gp.I1039V0.0066.0E-4Shi2013 G
MYO7A     Shi2013:2chr11:
76909548-76909548		CAexonicInheritednonsynonymous SNVNM_000260
NM_001127180		c.C4450A
c.C4450A		p.L1484I
p.L1484I		22.18.334E-6Shi2013 G
MAML2     Shi2013:2chr11:
95724805-95724805		TCexonicInheritednonsynonymous SNVNM_032427c.A2222Gp.Y741C17.914.971E-5Shi2013 G
ZC2HC1C     Shi2013:2chr14:
75537322-75537322		AAAexonicInheritedframeshift insertionNM_001042430
NM_024643		c.46dupA
c.46dupA		p.M16fs
p.M16fs		--Shi2013 G
AHNAK2     Shi2013:2chr14:
105406648-105406648		GAexonicInheritednonsynonymous SNVNM_138420c.C15140Tp.P5047L14.994.143E-5Shi2013 G
ABHD12B     Shi2013:2chr14:
51344693-51344693		TCexonicInheritednonsynonymous SNVNM_001206673c.T128Cp.M43T0.017-Shi2013 G
SPTB     Shi2013:2chr14:
65237675-65237675		AGexonicInheritednonsynonymous SNVNM_000347
NM_001024858		c.T5726C
c.T5726C		p.F1909S
p.F1909S		27.61.0E-4Shi2013 G
GEMIN4     Shi2013:2chr17:
650309-650309		CTexonicInheritednonsynonymous SNVNM_015721c.G974Ap.R325Q10.780.0016Shi2013 G
PROCA1     Shi2013:2chr17:
27030631-27030631		GGGexonicInheritedframeshift insertionNM_001304951
NM_001304954
NM_152465
NM_001304949
NM_001304952
NM_001304953		c.608dupC
c.740dupC
c.956dupC
c.929dupC
c.962dupC
c.740dupC		p.A203fs
p.A247fs
p.A319fs
p.A310fs
p.A321fs
p.A247fs		--Shi2013 G
BAHD1     Shi2013:2chr15:
40751592-40751592		TAexonicInheritednonsynonymous SNVNM_001301132
NM_014952		c.T929A
c.T929A		p.L310Q
p.L310Q		16.244.218E-5Shi2013 G
THSD4     Shi2013:2chr15:
71507377-71507377		CTexonicInheritednonsynonymous SNVNM_024817c.C103Tp.P35S15.659.0E-4Shi2013 G
DNAH17     Shi2013:2chr17:
76455168-76455168		GAexonicInheritednonsynonymous SNVNM_173628c.C9776Tp.A3259V18.920.0014Shi2013 G
ABCA7     Shi2013:2chr19:
1064171-1064171		GTexonicInheritednonsynonymous SNVNM_019112c.G5963Tp.C1988F17.015.0E-4Shi2013 G
KRTAP16-1     Shi2013:2chr17:
39465405-39465405		GAexonicInheritednonsynonymous SNVNM_001146182c.C101Tp.S34F19.94-Shi2013 G
COASY     Shi2013:2chr17:
40714796-40714796		GCexonicInheritednonsynonymous SNVNM_025233
NM_001042529
NM_001042532		c.G156C
c.G156C
c.G243C		p.Q52H
p.Q52H
p.Q81H		26.14.0E-4Shi2013 G
SIGLEC12     Shi2013:2chr19:
52004795-52004795		GCTexonicInheritedframeshift substitutionNM_053003c.193_193delinsAGN/A--Shi2013 G
ZNF534     Shi2013:2chr19:
52938462-52938462		GAexonicInheritednonsynonymous SNVNM_001143938
NM_001143939
NM_001291368		c.G271A
c.G310A
c.G271A		p.E91K
p.E104K
p.D91N		3.053-Shi2013 G
PLIN4     Shi2013:2chr19:
4504602-4504602		GAexonicInheritednonsynonymous SNVNM_001080400c.C3943Tp.R1315W10.425.0E-4Shi2013 G
RASAL3     Shi2013:2chr19:
15565549-15565549		GAexonicInheritednonsynonymous SNVNM_022904c.C1877Tp.A626V5.4933.0E-4Shi2013 G
GBA2     Shi2013:2chr9:
35741063-35741063		TCsplicingInheritedsplicing21.8-Shi2013 G
EMG1       Shi2013:2chr12:
7080212-7080212		TGCsplicingInheritedsplicing--Shi2013 G
ASMT     Shi2013:2chrX:
1734136-1734136		ACexonicInheritednonsynonymous SNVNM_001171038
NM_001171039
NM_004043		c.A44C
c.A44C
c.A44C		p.Y15S
p.Y15S
p.Y15S		11.420.0018Shi2013 G
CNBD1     Shi2013:2chr8:
88218368-88218368		TCsplicingInheritedsplicing12.056.076E-5Shi2013 G
Source Variant Information

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The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
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