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Results for "Patowary2019"

Variant Events: 144

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
KMT2D     60-4031chr12:
49433291-49433291		CGexonicInheritednonsynonymous SNVNM_003482c.G8156Cp.S2719T9.824.454E-5Patowary2019 E
CWC25     60-4031chr17:
36963226-36963226		GAexonicInheritednonsynonymous SNVNM_017748c.C694Tp.R232W31.05.027E-5Patowary2019 E
GPRC6A     60-4031chr6:
117116988-117116988		GCexonicInheritednonsynonymous SNVNM_001286355
NM_001286354
NM_148963		c.C1346G
c.C1034G
c.C1559G		p.S449C
p.S345C
p.S520C		22.38.599E-6Patowary2019 E
C2CD2L     60-4031chr11:
118981302-118981302		TAexonicInheritednonsynonymous SNVNM_001290474
NM_014807		c.T482A
c.T482A		p.V161E
p.V161E		21.29.38E-6Patowary2019 E
ALDH1L2     60-2036chr12:
105460408-105460408		GAexonicInheritednonsynonymous SNVNM_001034173c.C634Tp.R212C15.697.433E-5Patowary2019 E
EPX     60-2036chr17:
56281589-56281589		GCexonicInheritednonsynonymous SNVNM_000502c.G1953Cp.W651C19.018.238E-5Patowary2019 E
ZMYM5     60-4031chr13:
20413118-20413118		CGexonicInheritednonsynonymous SNVNM_001039650
NM_001142684		c.G594C
c.G594C		p.W198C
p.W198C		12.84-Patowary2019 E
CARMIL3     60-4031chr14:
24528890-24528890		GAexonicInheritednonsynonymous SNVNM_138360c.G1817Ap.R606Q19.81-Patowary2019 E
FAM160A1     72-0745chr4:
152570812-152570812		CTexonicInheritednonsynonymous SNVNM_001109977c.C1619Tp.T540M2.3292.0E-4Patowary2019 E
CNPPD1     72-0745chr2:
220039823-220039823		AGexonicInheritednonsynonymous SNVNM_015680c.T268Cp.C90R18.571.727E-5Patowary2019 E
CHRM4     72-0745chr11:
46408062-46408062		CTexonicInheritednonsynonymous SNVNM_000741c.G46Ap.V16M11.028.322E-5Patowary2019 E
MAP2     72-0745chr2:
210560711-210560711		TAexonicInheritednonsynonymous SNVNM_002374c.T3817Ap.C1273S9.3538.265E-6Patowary2019 E
FKBP9     72-0745chr7:
33015967-33015967		CTexonicInheritednonsynonymous SNVNM_007270
NM_001284341		c.C559T
c.C718T		p.H187Y
p.H240Y		3.4038.238E-6Patowary2019 E
ATXN2     60-4031chr12:
112036756-112036756		TGexonicInheritednonsynonymous SNVNM_002973c.A563Cp.Q188P11.510.0775Patowary2019 E
PCDHAC1     72-0745chr5:
140308176-140308176		GCexonicInheritednonsynonymous SNVNM_018898
NM_031882		c.G1699C
c.G1699C		p.V567L
p.V567L		3.143-Patowary2019 E
C19orf57     72-0745chr19:
14001149-14001149		GAexonicInheritedstopgainNM_024323c.C520Tp.Q174X14.65-Patowary2019 E
FSTL4     72-0745chr5:
132534876-132534876		AGexonicInheritednonsynonymous SNVNM_015082c.T2440Cp.F814L12.392.502E-5Patowary2019 E
SLC4A9     72-0745chr5:
139745591-139745591		GAexonicInheritednonsynonymous SNVNM_001258426
NM_001258428
NM_031467		c.G1841A
c.G1955A
c.G1883A		p.R614H
p.R652H
p.R628H		12.962.486E-5Patowary2019 E
ADIRF     72-0745chr10:
88730270-88730270		CGexonicInheritednonsynonymous SNVNM_006829c.C162Gp.I54M14.89-Patowary2019 E
PCLO     72-0745chr7:
82763882-82763882		GAexonicInheritednonsynonymous SNVNM_014510
NM_033026		c.C2984T
c.C2984T		p.P995L
p.P995L		5.713-Patowary2019 E
TTC21A     72-0745chr3:
39171613-39171613		CAexonicInheritednonsynonymous SNVNM_001105513
NM_145755		c.C2056A
c.C2200A		p.L686M
p.L734M		16.468.446E-6Patowary2019 E
RAB3IL1     72-0745chr11:
61665796-61665796		TCexonicInheritednonsynonymous SNVNM_001271686
NM_013401		c.A1025G
c.A1103G		p.K342R
p.K368R		15.980.0013Patowary2019 E
MINK1     72-0745chr17:
4799506-4799506		CTexonicInheritednonsynonymous SNVNM_015716
NM_001024937
NM_153827
NM_170663		c.C3373T
c.C3424T
c.C3484T
c.C3397T		p.H1125Y
p.H1142Y
p.H1162Y
p.H1133Y		18.472.633E-5Patowary2019 E
CFAP69     72-0745chr7:
89874755-89874755		CGexonicInheritednonsynonymous SNVNM_001039706
NM_001160138		c.C17G
c.C17G		p.A6G
p.A6G		18.46-Patowary2019 E
TGM1     72-1245chr14:
24724388-24724388		GAexonicInheritednonsynonymous SNVNM_000359c.C1717Tp.R573W13.564.945E-5Patowary2019 E
SNPH     72-1245chr20:
1286109-1286109		GTexonicInheritednonsynonymous SNVNM_014723c.G896Tp.G299V7.2238.409E-6Patowary2019 E
PRKCQ     72-1397chr10:
6527171-6527171		GTexonicInheritednonsynonymous SNVNM_001282645
NM_001242413
NM_001282644
NM_006257		c.C586A
c.C961A
c.C853A
c.C961A		p.P196T
p.P321T
p.P285T
p.P321T		8.321.0E-4Patowary2019 E
RNF31     72-1245chr14:
24621007-24621007		CTexonicInheritednonsynonymous SNVNM_001310332
NM_017999		c.C1483T
c.C1936T		p.R495W
p.R646W		19.581.0E-4Patowary2019 E
ATXN2     72-0745chr12:
112036756-112036756		TGexonicInheritednonsynonymous SNVNM_002973c.A563Cp.Q188P11.510.0775Patowary2019 E
EPHA1     72-0745chr7:
143088585-143088585		GAexonicInheritednonsynonymous SNVNM_005232c.C2896Tp.R966C21.41.658E-5Patowary2019 E
NFATC1     72-1047chr18:
77208917-77208917		GAexonicInheritednonsynonymous SNVNM_001278673
NM_172388
NM_001278669
NM_001278670
NM_001278672
NM_001278675
NM_006162
NM_172387
NM_172389
NM_172390		c.G106A
c.G106A
c.G1522A
c.G1522A
c.G1483A
c.G1483A
c.G1522A
c.G1483A
c.G1483A
c.G1522A		p.E36K
p.E36K
p.E508K
p.E508K
p.E495K
p.E495K
p.E508K
p.E495K
p.E495K
p.E508K		31.0-Patowary2019 E
MAP1B     72-1047chr5:
71493249-71493249		CTexonicInheritednonsynonymous SNVNM_005909c.C4067Tp.P1356L12.11-Patowary2019 E
LRFN2     72-1397chr6:
40400491-40400491		CTexonicInheritednonsynonymous SNVNM_020737c.G362Ap.R121Q18.422.475E-5Patowary2019 E
DCDC2     72-1397chr6:
24178621-24178621		ATexonicInheritednonsynonymous SNVNM_016356
NM_001195610		c.T1263A
c.T1263A		p.N421K
p.N421K		12.583.295E-5Patowary2019 E
WNK1     72-1397chr12:
977433-977433		GCexonicInheritednonsynonymous SNVNM_001184985
NM_213655		c.G2541C
c.G2796C		p.Q847H
p.Q932H		4.847-Patowary2019 E
SCUBE3     72-1397chr6:
35210840-35210840		GAexonicInheritednonsynonymous SNVNM_001303136
NM_152753		c.G1733A
c.G1736A		p.R578Q
p.R579Q		13.585.025E-5Patowary2019 E
SLC22A11     72-1397chr11:
64323737-64323737		GCexonicInheritednonsynonymous SNVNM_001307985
NM_018484		c.G266C
c.G266C		p.R89P
p.R89P		9.6242.0E-4Patowary2019 E
NCK1     72-1397chr3:
136665003-136665003		AGexonicInheritednonsynonymous SNVNM_001190796
NM_001291999
NM_006153		c.A613G
c.A805G
c.A805G		p.I205V
p.I269V
p.I269V		12.26-Patowary2019 E
NDUFS4     72-1397chr5:
52899293-52899293		CGexonicInheritednonsynonymous SNVNM_002495c.C110Gp.T37S17.53-Patowary2019 E
PDE1C     72-1397chr7:
31917646-31917646		CGexonicInheritednonsynonymous SNVNM_001191056
NM_001191057
NM_001191058
NM_001191059
NM_005020		c.G429C
c.G429C
c.G609C
c.G429C
c.G429C		p.M143I
p.M143I
p.M203I
p.M143I
p.M143I		19.19-Patowary2019 E
HYAL2     72-1921chr3:
50357678-50357678		GTexonicInheritednonsynonymous SNVNM_003773
NM_033158		c.C243A
c.C243A		p.D81E
p.D81E		13.328.288E-6Patowary2019 E
CEP250     72-1921chr20:
34065858-34065858		GAexonicInheritednonsynonymous SNVNM_007186c.G2026Ap.A676T13.11-Patowary2019 E
COL16A1     72-1921chr1:
32160798-32160798		GAexonicInheritednonsynonymous SNVNM_001856c.C970Tp.R324W10.353.451E-5Patowary2019 E
PLEKHG5     72-1921chr1:
6530645-6530645		TCexonicInheritednonsynonymous SNVNM_001042664
NM_001042665
NM_001265593
NM_001265594
NM_020631
NM_001042663
NM_001265592
NM_198681		c.A1601G
c.A1601G
c.A1808G
c.A1601G
c.A1601G
c.A1769G
c.A1838G
c.A1832G		p.E534G
p.E534G
p.E603G
p.E534G
p.E534G
p.E590G
p.E613G
p.E611G		26.9-Patowary2019 E
SSH2     72-1397chr17:
27963290-27963290		GTexonicInheritednonsynonymous SNVNM_033389
NM_001282129		c.C1877A
c.C1958A		p.S626Y
p.S653Y		21.8-Patowary2019 E
ZNF510     72-1397chr9:
99522256-99522256		CAexonicInheritedstopgainNM_001314060
NM_001314059
NM_014930		c.G670T
c.G856T
c.G856T		p.E224X
p.E286X
p.E286X		40.0-Patowary2019 E
MCM3AP     72-1921chr21:
47666565-47666565		GAexonicInheritednonsynonymous SNVNM_003906c.C4526Tp.A1509V6.381.657E-5Patowary2019 E
LYG2     72-1397chr2:
99863200-99863200		TCexonicInheritednonsynonymous SNVNM_175735c.A127Gp.I43V7.258-Patowary2019 E
CFTR     74-0081chr7:
117267592-117267592		GAexonicInheritednonsynonymous SNVNM_000492c.G3485Ap.R1162Q21.92.0E-4Patowary2019 E
BPHL     74-0081chr6:
3140676-3140676		GAexonicInheritednonsynonymous SNVNM_004332
NM_001302777		c.G721A
c.G670A		p.G241S
p.G224S		25.24.119E-5Patowary2019 E
IFI16     74-0180chr1:
158986366-158986366		GAexonicInheritednonsynonymous SNVNM_005531c.G425Ap.S142N5.5948.279E-6Patowary2019 E
TREM1     74-0180chr6:
41248867-41248867		TCexonicInheritednonsynonymous SNVNM_001242589
NM_018643		c.A431G
c.A431G		p.N144S
p.N144S		0.1274.131E-5Patowary2019 E
DPEP3     72-1921chr16:
68011584-68011584		TCexonicInheritednonsynonymous SNVNM_001129758
NM_022357		c.A980G
c.A980G		p.N327S
p.N327S		20.4-Patowary2019 E
TSSK3     72-1921chr1:
32829817-32829817		TCexonicInheritednonsynonymous SNVNM_052841c.T767Cp.I256T14.81.0E-4Patowary2019 E
NTAN1     74-0081chr16:
15141730-15141730		CAexonicInheritednonsynonymous SNVNM_173474c.G232Tp.V78L12.97-Patowary2019 E
AP5Z1     74-0081chr7:
4830311-4830311		CTexonicInheritednonsynonymous SNVNM_014855c.C1946Tp.A649V13.29-Patowary2019 E
RBMXL3     74-0358chrX:
114424585-114424585		TGexonicInheritednonsynonymous SNVNM_001145346c.T581Gp.L194W10.25-Patowary2019 E
GTF3A     74-0358chr13:
28001292-28001292		CTexonicInheritednonsynonymous SNVNM_002097c.C265Tp.R89C18.874.0E-4Patowary2019 E
ZNF827     74-0450chr4:
146824346-146824346		GAexonicInheritednonsynonymous SNVNM_001306215
NM_178835		c.C65T
c.C65T		p.A22V
p.A22V		8.2116.105E-5Patowary2019 E
ARVCF     74-0358 Complex Event; expand row to view variants  Inheritednonsynonymous SNVNM_001670
NM_001670		c.G2792T
c.C2793G		p.S931I
p.S931R		12.29-Patowary2019 E
Patowary2019 E
ATP1A4     74-0180chr1:
160147313-160147313		GTexonicInheritednonsynonymous SNVNM_001001734
NM_144699		c.G3T
c.G2595T		p.M1I
p.M865I		16.37-Patowary2019 E
SPATA3     74-0180chr2:
231865140-231865140		GTexonicInheritednonsynonymous SNVNM_139073c.G361Tp.A121S8.1375.108E-5Patowary2019 E
UGT1A5     74-0358chr2:
234622043-234622043		GTexonicInheritednonsynonymous SNVNM_019078c.G406Tp.A136S11.57-Patowary2019 E
SLC46A3     74-0358chr13:
29286840-29286840		CTexonicInheritednonsynonymous SNVNM_001135919
NM_181785		c.G1037A
c.G1037A		p.S346N
p.S346N		7.242-Patowary2019 E
ADGRL4     74-0450chr1:
79357261-79357261		TCexonicInheritednonsynonymous SNVNM_022159c.A1958Gp.N653S23.42.501E-5Patowary2019 E
RHNO1     74-0450chr12:
2994578-2994578		CGexonicInheritednonsynonymous SNVNM_001252499
NM_001252500
NM_001257097
NM_001257098		c.C46G
c.C46G
c.C46G
c.C46G		p.L16V
p.L16V
p.L16V
p.L16V		16.250.0037Patowary2019 E
TRPV2     74-0481chr17:
16335605-16335605		GAexonicInheritedstopgainNM_016113c.G1980Ap.W660X46.0-Patowary2019 E
MPRIP     74-0481chr17:
17050657-17050657		GAexonicInheritednonsynonymous SNVNM_015134
NM_201274		c.G1231A
c.G1231A		p.A411T
p.A411T		9.0031.648E-5Patowary2019 E
SLC22A11     74-0450chr11:
64323737-64323737		GCexonicInheritednonsynonymous SNVNM_001307985
NM_018484		c.G266C
c.G266C		p.R89P
p.R89P		9.6242.0E-4Patowary2019 E
SCN10A     74-0450chr3:
38797370-38797370		TCexonicInheritednonsynonymous SNVNM_001293306
NM_001293307
NM_006514		c.A1370G
c.A1370G
c.A1370G		p.E457G
p.E457G
p.E457G		8.4082.0E-4Patowary2019 E
SLC25A1     74-0450chr22:
19165466-19165466		CGexonicInheritednonsynonymous SNVNM_001256534
NM_005984		c.G312C
c.G291C		p.K104N
p.K97N		22.0-Patowary2019 E
ARHGEF16     74-0450chr1:
3391344-3391344		AGexonicInheritednonsynonymous SNVNM_014448c.A1378Gp.K460E16.74-Patowary2019 E
GIGYF1     74-0481chr7:
100284283-100284283		GCexonicInheritednonsynonymous SNVNM_022574c.C683Gp.S228C15.792.635E-5Patowary2019 E
PLEKHG5     74-0481chr1:
6530645-6530645		TCexonicInheritednonsynonymous SNVNM_001042664
NM_001042665
NM_001265593
NM_001265594
NM_020631
NM_001042663
NM_001265592
NM_198681		c.A1601G
c.A1601G
c.A1808G
c.A1601G
c.A1601G
c.A1769G
c.A1838G
c.A1832G		p.E534G
p.E534G
p.E603G
p.E534G
p.E534G
p.E590G
p.E613G
p.E611G		26.9-Patowary2019 E
FBXO5     74-0481chr6:
153296228-153296228		CAexonicInheritednonsynonymous SNVNM_001142522
NM_012177		c.G494T
c.G632T		p.R165L
p.R211L		14.56-Patowary2019 E
RUSC2     74-0481chr9:
35547963-35547963		CTexonicInheritednonsynonymous SNVNM_001135999
NM_014806		c.C1445T
c.C1445T		p.T482M
p.T482M		15.137.436E-5Patowary2019 E
TLR5     74-0481chr1:
223284125-223284125		TCexonicInheritednonsynonymous SNVNM_003268c.A2249Gp.N750S1.4-Patowary2019 E
FGFR4     74-0481chr5:
176524669-176524669		CTexonicInheritedstopgainNM_022963
NM_001291980
NM_002011
NM_213647		c.C2281T
c.C2197T
c.C2401T
c.C2401T		p.Q761X
p.Q733X
p.Q801X
p.Q801X		23.3-Patowary2019 E
SLCO5A1     74-0481chr8:
70650428-70650428		CTexonicInheritednonsynonymous SNVNM_001146008
NM_030958		c.G1270A
c.G1270A		p.A424T
p.A424T		33.0-Patowary2019 E
ZNFX1     74-0481chr20:
47865387-47865387		CTexonicInheritednonsynonymous SNVNM_021035c.G4174Ap.E1392K13.86-Patowary2019 E
ZNF638     74-0672chr2:
71650660-71650660		ATexonicInheritednonsynonymous SNVNM_001014972
NM_001252612
NM_001252613
NM_014497		c.A4016T
c.A4016T
c.A4016T
c.A4016T		p.D1339V
p.D1339V
p.D1339V
p.D1339V		0.0551.679E-5Patowary2019 E
CDC23     74-0672chr5:
137533923-137533923		AGexonicInheritednonsynonymous SNVNM_004661c.T977Cp.I326T12.46-Patowary2019 E
PAK1IP1     74-0672chr6:
10705011-10705011		ATexonicInheritednonsynonymous SNVNM_017906c.A674Tp.E225V24.8-Patowary2019 E
TCP11L1     74-0672chr11:
33090247-33090247		AGexonicInheritednonsynonymous SNVNM_001145541
NM_018393		c.A1169G
c.A1169G		p.K390R
p.K390R		9.8968.252E-6Patowary2019 E
SCARF1     74-0481chr17:
1540104-1540104		TCexonicInheritednonsynonymous SNVNM_003693
NM_145350		c.A1532G
c.A1495G		p.E511G
p.S499G		27.1-Patowary2019 E
KRTAP19-3     74-0481chr21:
31864073-31864073		CTexonicInheritednonsynonymous SNVNM_181609c.G203Ap.R68H9.3663.3E-5Patowary2019 E
GATD1     74-0672chr11:
775136-775136		GCexonicInheritednonsynonymous SNVNM_182612c.C71Gp.S24W15.072.0E-4Patowary2019 E
C1QTNF9B     74-0481chr13:
24468278-24468278		CAexonicInheritedstopgainNM_001007537c.G229Tp.G77X17.744.0E-4Patowary2019 E
FAM13A     74-0752chr4:
89772306-89772306		AGexonicInheritednonsynonymous SNVNM_014883c.T872Cp.I291T0.5684.945E-5Patowary2019 E
ADGRB2     74-0707chr1:
32196666-32196666		TAexonicInheritednonsynonymous SNVNM_001294336
NM_001294335		c.A4016T
c.A4115T		p.D1339V
p.D1372V		12.11-Patowary2019 E
LHX1     74-0752chr17:
35300106-35300106		CGexonicInheritednonsynonymous SNVNM_005568c.C899Gp.P300R18.561.517E-5Patowary2019 E
CYP2C9     74-0752chr10:
96740996-96740996		CTexonicInheritedstopgainNM_000771c.C1018Tp.Q340X14.151.649E-5Patowary2019 E
FNDC11     74-0672chr20:
62187756-62187756		TCexonicInheritednonsynonymous SNVNM_024059c.T740Cp.L247P17.1-Patowary2019 E
FAM83C     74-0672chr20:
33879743-33879743		TCexonicInheritednonsynonymous SNVNM_178468c.A365Gp.D122G17.88.269E-6Patowary2019 E
EPB41     74-0707chr1:
29385338-29385338		ACexonicInheritednonsynonymous SNVNM_001166005c.A1918Cp.T640P9.666-Patowary2019 E
BHLHB9     74-0672chrX:
102004930-102004930		CGexonicInheritednonsynonymous SNVNM_001142530
NM_001142529
NM_030639
NM_001142524
NM_001142525
NM_001142526
NM_001142527
NM_001142528		c.C1007G
c.C1007G
c.C1007G
c.C1007G
c.C1007G
c.C1007G
c.C1007G
c.C1007G		p.T336S
p.T336S
p.T336S
p.T336S
p.T336S
p.T336S
p.T336S
p.T336S		11.37-Patowary2019 E
ADARB2     74-0765chr10:
1405594-1405594		GAexonicInheritednonsynonymous SNVNM_018702c.C706Tp.L236F0.0080.0026Patowary2019 E
PRAME     74-0752chr22:
22893497-22893497		GCexonicInheritednonsynonymous SNVNM_001291715
NM_001291716
NM_206953
NM_006115
NM_206954
NM_206955
NM_206956		c.C36G
c.C36G
c.C36G
c.C36G
c.C36G
c.C36G
c.C36G		p.S12R
p.S12R
p.S12R
p.S12R
p.S12R
p.S12R
p.S12R		6.2662.0E-4Patowary2019 E
DUOX2     74-0765chr15:
45386852-45386852		CTexonicInheritednonsynonymous SNVNM_014080c.G4433Ap.R1478Q22.38.424E-6Patowary2019 E
EIF2AK4     74-0765chr15:
40269017-40269017		CGexonicInheritednonsynonymous SNVNM_001013703c.C2221Gp.H741D1.528-Patowary2019 E
CEP78     74-0752chr9:
80877854-80877854		ACexonicInheritednonsynonymous SNVNM_001098802
NM_032171		c.A1415C
c.A1415C		p.K472T
p.K472T		18.014.502E-5Patowary2019 E
MTTP     74-0752chr4:
100503235-100503235		TGexonicInheritednonsynonymous SNVNM_001300785
NM_000253		c.T316G
c.T235G		p.L106V
p.L79V		15.28-Patowary2019 E
FAM184B     74-0752chr4:
17782809-17782809		CTexonicInheritednonsynonymous SNVNM_015688c.G114Ap.M38I18.33-Patowary2019 E
RAPGEF6       74-0752chr5:
130771810-130771810		GTexonicInheritednonsynonymous SNVNM_001164389c.C4010Ap.T1337K14.64-Patowary2019 E
CENPJ     74-0765chr13:
25487103-25487103		TAexonicInheritednonsynonymous SNVNM_018451c.A61Tp.M21L23.40.0107Patowary2019 E
PPP1R12C     74-0765chr19:
55606079-55606079		GTexonicInheritednonsynonymous SNVNM_001271618
NM_017607		c.C1539A
c.C1542A		p.N513K
p.N514K		10.9-Patowary2019 E
CYP2C9     74-0765chr10:
96745800-96745800		TCexonicInheritednonsynonymous SNVNM_000771c.T1160Cp.I387T13.95-Patowary2019 E
DAPK2     74-0765chr15:
64275843-64275843		CAexonicInheritednonsynonymous SNVNM_014326c.G203Tp.R68L28.24.0E-4Patowary2019 E
NUP153     74-0765chr6:
17626137-17626137		GCexonicInheritednonsynonymous SNVNM_001278210
NM_005124
NM_001278209		c.C3677G
c.C3803G
c.C3896G		p.T1226R
p.T1268R
p.T1299R		15.292.472E-5Patowary2019 E
SULT1E1     74-0765chr4:
70723347-70723347		CAexonicInheritednonsynonymous SNVNM_005420c.G16Tp.D6Y9.7511.701E-5Patowary2019 E
FGD5     74-0765chr3:
14862257-14862257		TCexonicInheritednonsynonymous SNVNM_152536c.T1679Cp.V560A6.318.571E-6Patowary2019 E
INO80     74-0765chr15:
41384317-41384317		CGexonicInheritednonsynonymous SNVNM_017553c.G445Cp.E149Q13.392.474E-5Patowary2019 E
SLC15A1     152-HSC0079chr13:
99361005-99361005		CGexonicInheritednonsynonymous SNVNM_005073c.G1084Cp.A362P14.111.0E-4Patowary2019 E
ITGB6     152-HSC0079chr2:
160964212-160964212		CTexonicInheritednonsynonymous SNVNM_001282354
NM_001282355
NM_001282388
NM_001282390
NM_000888
NM_001282389
NM_001282353		c.G1961A
c.G1925A
c.G2120A
c.G1832A
c.G2246A
c.G2027A
c.G2246A		p.R654Q
p.R642Q
p.R707Q
p.R611Q
p.R749Q
p.R676Q
p.R749Q		25.59.065E-5Patowary2019 E
DPP3     152-HSC0079chr11:
66252653-66252653		GCexonicInheritednonsynonymous SNVNM_005700
NM_130443		c.G280C
c.G280C		p.V94L
p.V94L		13.053.0E-4Patowary2019 E
KLHL1     152-HSC0079chr13:
70514228-70514228		ATexonicInheritednonsynonymous SNVNM_001286725
NM_020866		c.T775A
c.T958A		p.F259I
p.F320I		32.0-Patowary2019 E
IFT46     152-HSC0079chr11:
118428568-118428568		CTexonicInheritednonsynonymous SNVNM_020153c.G83Ap.R28K14.292.0E-4Patowary2019 E
ADAMTS2     152-HSC0079chr5:
178553060-178553060		CTexonicInheritednonsynonymous SNVNM_014244c.G2689Ap.A897T2.4754.978E-5Patowary2019 E
ATP8B3     152-HSC0079chr19:
1796779-1796779		GAexonicInheritednonsynonymous SNVNM_001178002
NM_138813		c.C1543T
c.C1684T		p.R515W
p.R562W		16.295.18E-5Patowary2019 E
ELF5     152-HSC0079chr11:
34502431-34502431		CTexonicInheritednonsynonymous SNVNM_001243080
NM_001243081
NM_001422
NM_198381		c.G274A
c.G355A
c.G559A
c.G589A		p.D92N
p.D119N
p.D187N
p.D197N		32.03.295E-5Patowary2019 E
THSD1     156-3925chr13:
52951937-52951937		TCexonicInheritednonsynonymous SNVNM_199263
NM_018676		c.A2009G
c.A2168G		p.N670S
p.N723S		--Patowary2019 E
CAT     152-HSC0079chr11:
34475453-34475453		TGexonicInheritednonsynonymous SNVNM_001752c.T691Gp.Y231D17.671.648E-5Patowary2019 E
PGD     156-3925chr1:
10479487-10479487		GAexonicInheritednonsynonymous SNVNM_001304451
NM_001304452
NM_002631		c.G1157A
c.G1184A
c.G1223A		p.R386Q
p.R395Q
p.R408Q		14.991.66E-5Patowary2019 E
MMP21     156-3925chr10:
127460819-127460819		CTexonicInheritedstopgainNM_147191c.G947Ap.W316X19.58-Patowary2019 E
CD248     152-HSC0079chr11:
66082328-66082328		TGexonicInheritednonsynonymous SNVNM_020404c.A2171Cp.D724A17.245.891E-5Patowary2019 E
CENPJ     152-HSC0079chr13:
25487103-25487103		TAexonicInheritednonsynonymous SNVNM_018451c.A61Tp.M21L23.40.0107Patowary2019 E
TUBGCP2     152-HSC0079chr10:
135107082-135107082		ATexonicInheritednonsynonymous SNVNM_001256618
NM_006659
NM_001256617		c.T418A
c.T808A
c.T892A		p.Y140N
p.Y270N
p.Y298N		22.25.173E-5Patowary2019 E
WWC1     152-HSC0079chr5:
167841447-167841447		GAexonicInheritednonsynonymous SNVNM_001161661
NM_001161662
NM_015238		c.G1036A
c.G1036A
c.G1036A		p.E346K
p.E346K
p.E346K		36.0-Patowary2019 E
KLKB1     60-1015chr4:
187153307-187153307		GAexonicInheritednonsynonymous SNVNM_000892c.G85Ap.A29T0.0071.648E-5Patowary2019 E
NVL     156-3925chr1:
224491525-224491525		GAexonicInheritednonsynonymous SNVNM_001243146
NM_001243147
NM_206840
NM_002533		c.C212T
c.C587T
c.C542T
c.C860T		p.P71L
p.P196L
p.P181L
p.P287L		26.82.497E-5Patowary2019 E
SORD     60-1015chr15:
45335545-45335545		AGexonicInheritednonsynonymous SNVNM_003104c.A191Gp.K64R13.433.0E-4Patowary2019 E
EYA2     60-1015chr20:
45644877-45644877		AGexonicInheritednonsynonymous SNVNM_005244
NM_172110		c.A356G
c.A356G		p.Y119C
p.Y119C		19.446.589E-5Patowary2019 E
CEP41     156-3925chr7:
130039895-130039895		GCexonicInheritednonsynonymous SNVNM_018718c.C958Gp.P320A13.03-Patowary2019 E
YLPM1     156-3925chr14:
75248524-75248524		CAexonicInheritednonsynonymous SNVNM_019589c.C1778Ap.P593Q13.956.652E-5Patowary2019 E
ELF1     156-3925chr13:
41517148-41517148		AGexonicInheritednonsynonymous SNVNM_001145353
NM_172373		c.T674C
c.T746C		p.L225S
p.L249S		21.1-Patowary2019 E
ZNF74     156-3925chr22:
20761112-20761112		TAexonicInheritednonsynonymous SNVNM_001256525
NM_003426
NM_001256524		c.T1576A
c.T1789A
c.T1789A		p.Y526N
p.Y597N
p.Y597N		12.520.0035Patowary2019 E
NEK10     60-1057chr3:
27297817-27297817		GAexonicInheritednonsynonymous SNVNM_152534
NM_199347		c.C2060T
c.C2060T		p.T687I
p.T687I		17.617.633E-5Patowary2019 E
OR52M1     60-1057chr11:
4566422-4566422		TCexonicInheritednonsynonymous SNVNM_001004137c.T2Cp.M1T3.2834.468E-5Patowary2019 E
ARSG     60-2036chr17:
66364696-66364696		GAexonicInheritednonsynonymous SNVNM_001267727
NM_014960		c.G712A
c.G712A		p.G238R
p.G238R		12.959.076E-5Patowary2019 E
SH3BP4     60-2036chr2:
235950057-235950057		AGexonicInheritednonsynonymous SNVNM_014521c.A644Gp.N215S8.0884.124E-5Patowary2019 E
PLXNB1     60-1057chr3:
48456740-48456740		ACexonicInheritednonsynonymous SNVNM_001130082
NM_002673		c.T3811G
c.T3811G		p.C1271G
p.C1271G		8.7111.0E-4Patowary2019 E
TMEM82     60-1015chr1:
16074127-16074127		AGexonicInheritedstoplossNM_001013641c.A1032Gp.X344W10.78.303E-6Patowary2019 E
IQSEC3     60-1057chr12:
283924-283924		CGexonicInheritednonsynonymous SNVNM_001170738c.C3274Gp.Q1092E20.44.0E-4Patowary2019 E
KRT86     60-1057chr12:
52695854-52695854		GCexonicInheritednonsynonymous SNVNM_002284c.G154Cp.G52R19.860.0042Patowary2019 E
Source Variant Information

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Paper Information
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Authors
Technology
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Design
URL
Pubmed
Subject count
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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