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or
Exact

Results for "Yuen2015"

Variant Events: 204

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
FA2H     2-0303-003chr16:
74760150-74760150		CTexonicDe novononsynonymous SNVNM_024306c.G586Ap.V196I7.8321.668E-5Yuen2015 G
HYKK     2-1085-004chr15:
78805673-78805674		GAGexonicDe novoframeshift deletionNM_001013619
NM_001083612		c.244delA
c.244delA		p.N82fs
p.N82fs		--Yuen2015 G
LOXHD1     2-0298-004chr18:
44172473-44172473		CAexonicDe novononsynonymous SNVNM_144612c.G1506Tp.W502C14.59-Yuen2015 G
RAD21     2-0299-003chr8:
117874114-117874114		AGexonicDe novononsynonymous SNVNM_006265c.T340Cp.F114L18.88-Yuen2015 G
BSDC1     2-1335-004chr1:
32852481-32852483		CCACexonicDe novoframeshift deletionNM_001143888
NM_001143889
NM_001300958
NM_018045		c.86_87del
c.86_87del
c.86_87del
c.86_87del		p.L29fs
p.L29fs
p.L29fs
p.L29fs		--Yuen2015 G
FAM76B     2-1336-003chr11:
95516280-95516280		TCexonicDe novononsynonymous SNVNM_144664c.A512Gp.H171R13.22-Yuen2015 G
LRRC7     2-1341-003chr1:
70291463-70291467		TGTAATexonicDe novoframeshift deletionNM_020794c.341_344delp.C114fs--Yuen2015 G
AZGP1     2-1169-003chr7:
99573613-99573614		GAGexonicDe novoframeshift deletionNM_001185c.30delTp.S10fs--Yuen2015 G
USF2     2-1335-003chr19:
35769606-35769606		CTexonicDe novononsynonymous SNVNM_207291
NM_003367		c.C532T
c.C733T		p.R178W
p.R245W		23.0-Yuen2015 G
STXBP5L     2-1235-004chr3:
120673793-120673794		CGCexonicDe novoframeshift deletionNM_001308330
NM_014980		c.197delG
c.197delG		p.R66fs
p.R66fs		--Yuen2015 G
PIKFYVE     2-1335-003chr2:
209190632-209190632		TAexonicDe novononsynonymous SNVNM_015040c.T3097Ap.S1033T0.0338.247E-6Yuen2015 G
ZNF263     2-1336-004chr16:
3340509-3340509		TGexonicDe novononsynonymous SNVNM_005741c.T2003Gp.F668C20.78.353E-6Yuen2015 G
DNAH10     3-0027-001chr12:
124383277-124383277		CAexonicDe novononsynonymous SNVNM_207437c.C9202Ap.L3068M18.33-Yuen2015 G
APLP2     3-0107-000chr11:
129996709-129996709		GAexonicDe novononsynonymous SNVNM_001142278
NM_001142277
NM_001142276
NM_001243299
NM_001642		c.G518A
c.G1037A
c.G1205A
c.G1235A
c.G1205A		p.R173H
p.R346H
p.R402H
p.R412H
p.R402H		15.64.118E-5Yuen2015 G
TACC1     2-1336-003chr8:
38705481-38705481		ATexonicDe novononsynonymous SNVNM_001122824
NM_001146216
NM_006283		c.A1128T
c.A1773T
c.A2358T		p.E376D
p.E591D
p.E786D		21.8-Yuen2015 G
CUX2     3-0027-001chr12:
111785392-111785392		GAexonicDe novononsynonymous SNVNM_015267c.G3724Ap.G1242R15.572.0E-4Yuen2015 G
DNAH10     3-0027-001chr12:
124382336-124382336		GAexonicDe novosynonymous SNVNM_207437c.G8946Ap.P2982P-1.66E-5Yuen2015 G
ZNF681     2-1341-004chr19:
23927566-23927566		GAexonicDe novosynonymous SNVNM_138286c.C786Tp.A262A--Yuen2015 G
SHANK3     3-0107-000chr22:
51121806-51121808		CAGCexonicDe novoframeshift deletionNM_033517c.925_926delp.R309fs--Yuen2015 G
CBLL1     2-1341-004chr7:
107399133-107399133		CTexonicDe novononsynonymous SNVNM_001284291
NM_024814		c.C983T
c.C986T		p.S328L
p.S329L		12.091.648E-5Yuen2015 G
COLEC10     2-1355-004chr8:
120118167-120118167		GAexonicDe novononsynonymous SNVNM_006438c.G571Ap.A191T9.099-Yuen2015 G
SLC25A46     2-1357-003chr5:
110083921-110083921		CTexonicDe novononsynonymous SNVNM_001303249
NM_001303250
NM_138773		c.C520T
c.C247T
c.C520T		p.L174F
p.L83F
p.L174F		20.1-Yuen2015 G
SLC9A8     2-1357-004chr20:
48503317-48503317		CTexonicDe novononsynonymous SNVNM_001260491
NM_015266		c.C1568T
c.C1520T		p.S523L
p.S507L		31.0-Yuen2015 G
C16orf45     2-1357-003chr16:
15680686-15680686		GAexonicDe novosynonymous SNVNM_001142469
NM_033201		c.G564A
c.G615A		p.X188X
p.X205X		--Yuen2015 G
BHLHE40     2-1357-003chr3:
5025306-5025306		TGexonicDe novononsynonymous SNVNM_003670c.T1168Gp.S390A0.562-Yuen2015 G
ZC3H3     2-1359-003chr8:
144522477-144522477		GAexonicDe novononsynonymous SNVNM_015117c.C2549Tp.T850I10.32-Yuen2015 G
BRIP1     2-1359-004chr17:
59885956-59885956		GCexonicDe novononsynonymous SNVNM_032043c.C790Gp.R264G15.67-Yuen2015 G
PIK3R5     2-1362-003chr17:
8814770-8814770		CTexonicDe novosynonymous SNVNM_001142633
NM_014308		c.G42A
c.G42A		p.Q14Q
p.Q14Q		--Yuen2015 G
RELN     2-1408-004chr7:
103194122-103194122		GTexonicDe novononsynonymous SNVNM_005045
NM_173054		c.C5954A
c.C5954A		p.S1985Y
p.S1985Y		21.0-Yuen2015 G
DRD4     2-1425-003chr11:
637409-637409		GAexonicDe novosynonymous SNVNM_000797c.G105Ap.A35A--Yuen2015 G
COL16A1     2-1425-003chr1:
32138033-32138033		CGexonicDe novononsynonymous SNVNM_001856c.G3089Cp.G1030A16.54-Yuen2015 G
NARF     2-1425-004chr17:
80439005-80439005		TCexonicDe novosynonymous SNVNM_001083608
NM_001038618
NM_012336		c.T543C
c.T510C
c.T687C		p.Y181Y
p.Y170Y
p.Y229Y		--Yuen2015 G
TJP3     2-1425-004chr19:
3731949-3731949		GAexonicDe novosynonymous SNVNM_001267560
NM_001267561		c.G630A
c.G657A		p.L210L
p.L219L		--Yuen2015 G
PI4KA     2-1437-003chr22:
21081520-21081520		GCexonicDe novononsynonymous SNVNM_058004c.C4939Gp.P1647A15.74-Yuen2015 G
CCDC87     2-1437-003chr11:
66359351-66359351		GCexonicDe novononsynonymous SNVNM_018219c.C1136Gp.P379R13.81-Yuen2015 G
ADAT1     1-0025-004chr16:
75646419-75646419		GAexonicDe novosynonymous SNVNM_012091c.C765Tp.D255D--Yuen2015 G
SLC25A46     1-0025-006chr5:
110074987-110074987		ACexonicDe novononsynonymous SNVNM_001303249
NM_138773		c.A167C
c.A167C		p.H56P
p.H56P		29.2-Yuen2015 G
NXPH1     1-0025-006chr7:
8790713-8790713		CAexonicDe novononsynonymous SNVNM_152745c.C130Ap.H44N11.5-Yuen2015 G
MIOS     1-0092-004chr7:
7613252-7613252		TAexonicDe novononsynonymous SNVNM_019005c.T1146Ap.N382K1.375-Yuen2015 G
MLXIPL     1-0092-003chr7:
73020399-73020399		GCexonicDe novononsynonymous SNVNM_032951
NM_032952
NM_032953
NM_032954		c.C661G
c.C661G
c.C661G
c.C661G		p.L221V
p.L221V
p.L221V
p.L221V		10.84-Yuen2015 G
PKN3     1-0092-004chr9:
131480610-131480610		CTexonicDe novosynonymous SNVNM_013355c.C1992Tp.Y664Y-2.475E-5Yuen2015 G
RYR1     3-0027-000chr19:
39025386-39025386		CTexonicDe novosynonymous SNVNM_001042723
NM_000540		c.C11271T
c.C11286T		p.L3757L
p.L3762L		--Yuen2015 G
MUC15     3-0027-000chr11:
26587227-26587227		TCexonicDe novononsynonymous SNVNM_145650
NM_001135091
NM_001135092		c.A179G
c.A260G
c.A260G		p.E60G
p.E87G
p.E87G		13.53-Yuen2015 G
HLA-E     2-0003-003chr6:
30457324-30457324		CTexonicDe novononsynonymous SNVNM_005516c.C16Tp.L6F12.5-Yuen2015 G
CSAD     2-0003-004chr12:
53552426-53552426		TCexonicDe novononsynonymous SNVNM_001244706
NM_001244705
NM_015989		c.A652G
c.A1351G
c.A1432G		p.M218V
p.M451V
p.M478V		15.278.314E-6Yuen2015 G
CANX     2-0003-003chr5:
179132790-179132790		CTexonicDe novosynonymous SNVNM_001024649
NM_001746		c.C108T
c.C108T		p.D36D
p.D36D		--Yuen2015 G
DAAM2     2-0007-004chr6:
39869186-39869186		GTexonicDe novononsynonymous SNVNM_001201427
NM_015345		c.G2920T
c.G2917T		p.D974Y
p.D973Y		29.7-Yuen2015 G
SLC16A13     2-0011-004chr17:
6939874-6939874		TCexonicDe novononsynonymous SNVNM_201566c.T173Cp.I58T16.49-Yuen2015 G
OR6C76     2-0003-004chr12:
55820407-55820407		TCexonicDe novononsynonymous SNVNM_001005183c.T370Cp.C124R17.89-Yuen2015 G
GBF1     2-0007-003chr10:
104140360-104140360		CTexonicDe novononsynonymous SNVNM_001199378
NM_001199379
NM_004193		c.C5078T
c.C5075T
c.C5087T		p.A1693V
p.A1692V
p.A1696V		13.93-Yuen2015 G
GSG1     2-0012-004chr12:
13237922-13237922		GAexonicDe novosynonymous SNVNM_001206845
NM_001206842
NM_001206843
NM_153823
NM_001080555		c.C741T
c.C933T
c.C810T
c.C894T
c.C1002T		p.S247S
p.S311S
p.S270S
p.S298S
p.S334S		-1.0E-4Yuen2015 G
IPO9     2-0012-003chr1:
201840366-201840366		ATexonicDe novosynonymous SNVNM_018085c.A2487Tp.G829G--Yuen2015 G
KIF2A     1-0160-004chr5:
61681329-61681329		GAexonicDe novononsynonymous SNVNM_001243953
NM_004520
NM_001098511
NM_001243952		c.G1997A
c.G2054A
c.G2168A
c.G1994A		p.R666H
p.R685H
p.R723H
p.R665H		18.3-Yuen2015 G
KCNMA1     2-0018-004chr10:
78846339-78846339		GAexonicDe novosynonymous SNVNM_001271518
NM_001014797
NM_001161352
NM_001161353
NM_001271519
NM_002247		c.C1185T
c.C1347T
c.C1347T
c.C1347T
c.C1347T
c.C1347T		p.N395N
p.N449N
p.N449N
p.N449N
p.N449N
p.N449N		8.978-Yuen2015 G
SNAP25     2-0018-004chr20:
10280021-10280021		CTexonicDe novosynonymous SNVNM_003081
NM_130811		c.C513T
c.C513T		p.I171I
p.I171I		-1.65E-5Yuen2015 G
MYO5A     2-0063-003chr15:
52632541-52632541		GAexonicDe novononsynonymous SNVNM_001142495
NM_000259		c.C4010T
c.C4091T		p.A1337V
p.A1364V		13.85-Yuen2015 G
BTBD10     2-0070-004chr11:
13427361-13427361		TGexonicDe novononsynonymous SNVNM_001297741
NM_001297742
NM_032320		c.A707C
c.A875C
c.A851C		p.Q236P
p.Q292P
p.Q284P		24.4-Yuen2015 G
DNAH10     2-0102-003chr12:
124413069-124413069		CTexonicDe novononsynonymous SNVNM_207437c.C11887Tp.R3963C33.02.344E-5Yuen2015 G
EMILIN2     1-0203-004chr18:
2891697-2891697		GTexonicDe novosynonymous SNVNM_032048c.G1572Tp.L524L--Yuen2015 G
KLHL30     1-0203-003chr2:
239054327-239054327		GAexonicDe novononsynonymous SNVNM_198582c.G1004Ap.R335Q24.36.515E-5Yuen2015 G
PCNX2     2-0102-004chr1:
233362984-233362984		GAexonicDe novononsynonymous SNVNM_014801c.C2492Tp.A831V32.0-Yuen2015 G
ZNF318     1-0203-003chr6:
43305565-43305565		GAexonicDe novosynonymous SNVNM_014345c.C6171Tp.S2057S-2.0E-4Yuen2015 G
LRRK2     2-0102-004chr12:
40668397-40668397		CTexonicDe novononsynonymous SNVNM_198578c.C1669Tp.P557S23.1-Yuen2015 G
RTN4R     2-0116-005chr22:
20230205-20230205		GAexonicDe novononsynonymous SNVNM_023004c.C451Tp.R151C15.468.603E-6Yuen2015 G
ALPI     2-0116-004chr2:
233321330-233321330		GTexonicDe novononsynonymous SNVNM_001631c.G225Tp.K75N14.24-Yuen2015 G
RPS9     2-0122-003chr19:
54710232-54710232		GTexonicDe novononsynonymous SNVNM_001013c.G309Tp.E103D14.94-Yuen2015 G
RASGRP3     2-0122-003chr2:
33768636-33768636		GAexonicDe novononsynonymous SNVNM_015376
NM_001139488
NM_170672		c.G1333A
c.G1336A
c.G1336A		p.E445K
p.E446K
p.E446K		35.0-Yuen2015 G
ATP11A     2-0122-003chr13:
113479875-113479875		CTexonicDe novononsynonymous SNVNM_015205
NM_032189		c.C1004T
c.C1004T		p.S335L
p.S335L		8.931.662E-5Yuen2015 G
RNH1     2-0129-005chr11:
499870-499870		GAexonicDe novosynonymous SNVNM_203384
NM_203385
NM_203388
NM_203389
NM_002939
NM_203383
NM_203386
NM_203387		c.C402T
c.C402T
c.C402T
c.C402T
c.C402T
c.C402T
c.C402T
c.C402T		p.C134C
p.C134C
p.C134C
p.C134C
p.C134C
p.C134C
p.C134C
p.C134C		--Yuen2015 G
TMEM247     2-0142-003chr2:
46707827-46707827		TCexonicDe novononsynonymous SNVNM_001145051c.T401Cp.V134A13.097.0E-4Yuen2015 G
ITSN1     2-0142-003chr21:
35260516-35260516		GGCexonicDe novoframeshift insertionNM_003024c.5078_5079insCp.G1693fs--Yuen2015 G
GDAP2     1-0231-004chr1:
118420734-118420734		ATexonicDe novononsynonymous SNVNM_001135589
NM_017686		c.T1343A
c.T1343A		p.L448Q
p.L448Q		25.6-Yuen2015 G
NKX3-1     1-0246-005chr8:
23538989-23538989		CTexonicDe novosynonymous SNVNM_006167
NM_001256339		c.G450A
c.G225A		p.S150S
p.S75S		-2.471E-5Yuen2015 G
TDRD9     2-0171-003chr14:
104491924-104491924		GCexonicDe novononsynonymous SNVNM_153046c.G2742Cp.W914C19.32-Yuen2015 G
TDRD9     2-0171-003chr14:
104492097-104492097		CTexonicDe novononsynonymous SNVNM_153046c.C2915Tp.S972F4.237-Yuen2015 G
ADSL     2-0171-003chr22:
40755284-40755284		GAexonicDe novononsynonymous SNVNM_000026
NM_001123378		c.G675A
c.G675A		p.M225I
p.M225I		14.41-Yuen2015 G
METRNL     2-0197-004chr17:
81043057-81043057		CTexonicDe novosynonymous SNVNM_001004431c.C414Tp.P138P-4.26E-5Yuen2015 G
PARD3     2-0210-005chr10:
34671556-34671556		CTexonicDe novosynonymous SNVNM_001184790
NM_001184791
NM_001184785
NM_001184786
NM_001184787
NM_001184788
NM_001184789
NM_001184792
NM_001184793
NM_001184794
NM_019619		c.G1179A
c.G1179A
c.G1311A
c.G1311A
c.G1311A
c.G1311A
c.G1311A
c.G1311A
c.G1311A
c.G1311A
c.G1311A		p.S393S
p.S393S
p.S437S
p.S437S
p.S437S
p.S437S
p.S437S
p.S437S
p.S437S
p.S437S
p.S437S		-2.471E-5Yuen2015 G
CACNB2     2-0223-003chr10:
18429670-18429670		TAexonicDe novononsynonymous SNVNM_201593
NM_201596
NM_201597		c.T5A
c.T5A
c.T5A		p.V2D
p.V2D
p.V2D		9.248-Yuen2015 G
GRAMD1B     2-0223-004chr11:
123471234-123471234		GCexonicDe novononsynonymous SNVNM_001286564
NM_020716
NM_001286563		c.G479C
c.G599C
c.G620C		p.W160S
p.W200S
p.W207S		22.5-Yuen2015 G
LIG1     2-0223-004chr19:
48631232-48631232		CTexonicDe novononsynonymous SNVNM_001289064
NM_001289063
NM_000234		c.G1663A
c.G1774A
c.G1867A		p.V555M
p.V592M
p.V623M		21.51.647E-5Yuen2015 G
CAPG     2-0223-003chr2:
85622036-85622036		AGexonicDe novononsynonymous SNVNM_001256139
NM_001256140
NM_001747		c.T1027C
c.T982C
c.T1027C		p.F343L
p.F328L
p.F343L		18.28-Yuen2015 G
KLF12     2-0225-004chr13:
74420252-74420252		TCexonicDe novononsynonymous SNVNM_007249c.A382Gp.T128A13.991.653E-5Yuen2015 G
KMT2B     2-0238-003chr19:
36228816-36228816		CTexonicDe novononsynonymous SNVNM_014727c.C7715Tp.T2572M8.986-Yuen2015 G
ADAMTS9     2-0223-004chr3:
64536720-64536720		CTexonicDe novononsynonymous SNVNM_182920c.G4717Ap.E1573K12.484.947E-5Yuen2015 G
IGF2R     2-0223-004chr6:
160431806-160431806		GAexonicDe novononsynonymous SNVNM_000876c.G502Ap.A168T22.78.322E-6Yuen2015 G
KRTAP13-3     1-0285-003chr21:
31798218-31798218		AGexonicDe novononsynonymous SNVNM_181622c.T13Cp.C5R9.501-Yuen2015 G
SMG6     1-0279-004chr17:
2091719-2091719		GAexonicDe novononsynonymous SNVNM_001256828
NM_001256827
NM_017575		c.C236T
c.C236T
c.C2960T		p.T79I
p.T79I
p.T987I		10.27-Yuen2015 G
MYH11     2-0238-004chr16:
15932022-15932022		ACexonicDe novononsynonymous SNVNM_001040113
NM_001040114
NM_002474
NM_022844		c.T88G
c.T88G
c.T88G
c.T88G		p.W30G
p.W30G
p.W30G
p.W30G		24.4-Yuen2015 G
ZNF208     1-0279-004chr19:
22154951-22154951		TCexonicDe novononsynonymous SNVNM_007153c.A2885Gp.Y962C5.338.466E-6Yuen2015 G
PLPBP     2-0238-004chr8:
37630385-37630385		GTexonicDe novononsynonymous SNVNM_007198c.G432Tp.Q144H20.1-Yuen2015 G
OS9     1-0286-004chr12:
58112146-58112146		GAexonicDe novononsynonymous SNVNM_001261421
NM_001261422
NM_001261423
NM_001017956
NM_001017957
NM_001017958
NM_001261420
NM_006812		c.G1256A
c.G1196A
c.G1175A
c.G1352A
c.G1352A
c.G1352A
c.G1355A
c.G1352A		p.R419Q
p.R399Q
p.R392Q
p.R451Q
p.R451Q
p.R451Q
p.R452Q
p.R451Q		18.528.25E-6Yuen2015 G
BTAF1     1-0292-005chr10:
93716323-93716323		GAexonicDe novononsynonymous SNVNM_003972c.G740Ap.R247Q21.9-Yuen2015 G
ALPK3     2-0270-003chr15:
85383755-85383755		GAexonicDe novosynonymous SNVNM_020778c.G1851Ap.L617L--Yuen2015 G
MYO9B     2-0285-003chr19:
17213124-17213124		CTexonicDe novosynonymous SNVNM_001130065
NM_004145		c.C597T
c.C597T		p.Y199Y
p.Y199Y		-8.281E-6Yuen2015 G
DNHD1     2-0286-004chr11:
6578823-6578823		CTexonicDe novosynonymous SNVNM_144666c.C8298Tp.H2766H--Yuen2015 G
ZNF266     2-0285-003chr19:
9524440-9524440		CTexonicDe novosynonymous SNVNM_001271314
NM_006631		c.G1161A
c.G1161A		p.K387K
p.K387K		--Yuen2015 G
EBF2     2-0285-003chr8:
25715995-25715995		GCexonicDe novononsynonymous SNVNM_022659c.C1368Gp.I456M14.5-Yuen2015 G
OSBPL7     2-0295-003chr17:
45892691-45892691		CTexonicDe novononsynonymous SNVNM_145798c.G1147Ap.E383K14.961.676E-5Yuen2015 G
METTL16     2-0286-004chr17:
2323790-2323790		CTexonicDe novononsynonymous SNVNM_024086c.G1163Ap.R388H20.2-Yuen2015 G
PCDH1     2-0286-004chr5:
141244257-141244257		GAexonicDe novononsynonymous SNVNM_001278615
NM_001278613
NM_002587
NM_032420		c.C502T
c.C1687T
c.C1639T
c.C1639T		p.P168S
p.P563S
p.P547S
p.P547S		10.588.242E-6Yuen2015 G
SPHKAP     2-0295-004chr2:
228882214-228882214		TAexonicDe novononsynonymous SNVNM_001142644
NM_030623		c.A3356T
c.A3356T		p.Q1119L
p.Q1119L		21.4-Yuen2015 G
BOD1L1     2-0296-003chr4:
13602459-13602459		GAexonicDe novononsynonymous SNVNM_148894c.C6065Tp.A2022V11.818.324E-6Yuen2015 G
PLEKHB2     1-0330-004chr2:
131897771-131897771		CTexonicDe novononsynonymous SNVNM_001267067
NM_001267068
NM_001309450
NM_001309448
NM_001309451
NM_001100623
NM_001267062
NM_001267063
NM_001267064
NM_001267065
NM_017958
NM_001309452		c.C325T
c.C322T
c.C209T
c.C311T
c.C308T
c.C455T
c.C455T
c.C452T
c.C476T
c.C479T
c.C452T
c.C311T		p.R109C
p.R108C
p.A70V
p.A104V
p.A103V
p.A152V
p.A152V
p.A151V
p.A159V
p.A160V
p.A151V
p.A104V		6.228.372E-6Yuen2015 G
SLC12A6     1-0330-004chr15:
34628677-34628677		AGexonicDe novononsynonymous SNVNM_001042497
NM_133647
NM_001042494
NM_001042495
NM_001042496		c.T205C
c.T205C
c.T28C
c.T28C
c.T178C		p.S69P
p.S69P
p.S10P
p.S10P
p.S60P		12.8-Yuen2015 G
PTPRN     2-0298-003chr2:
220162072-220162072		CTexonicDe novosynonymous SNVNM_001199763
NM_001199764
NM_002846		c.G1884A
c.G1701A
c.G1971A		p.V628V
p.V567V
p.V657V		--Yuen2015 G
PER2     1-0339-003chr2:
239164427-239164427		CTexonicDe novononsynonymous SNVNM_022817c.G2191Ap.A731T16.31-Yuen2015 G
SLC38A10     2-0303-004chr17:
79250915-79250915		GAexonicDe novosynonymous SNVNM_001037984
NM_138570		c.C645T
c.C645T		p.Y215Y
p.Y215Y		-8.294E-6Yuen2015 G
CFAP97     2-0303-004chr4:
186097018-186097018		CTexonicDe novosynonymous SNVNM_001292033
NM_020827		c.G1242A
c.G1242A		p.S414S
p.S414S		-2.485E-5Yuen2015 G
PITPNM3     1-0339-003chr17:
6374501-6374501		GAexonicDe novononsynonymous SNVNM_001165966
NM_031220		c.C1496T
c.C1604T		p.A499V
p.A535V		10.35-Yuen2015 G
NEUROG3     2-0303-004chr10:
71332699-71332699		GAexonicDe novononsynonymous SNVNM_020999c.C101Tp.S34F17.8-Yuen2015 G
SLC10A6     2-0305-003chr4:
87744979-87744979		CAexonicDe novosynonymous SNVNM_197965c.G996Tp.T332T--Yuen2015 G
MYO5A     1-0339-004chr15:
52675339-52675339		GTexonicDe novononsynonymous SNVNM_000259
NM_001142495		c.C1961A
c.C1961A		p.T654N
p.T654N		24.3-Yuen2015 G
CCT7     1-0345-004chr2:
73477486-73477486		CTexonicDe novononsynonymous SNVNM_001009570
NM_001166284
NM_006429
NM_001166285		c.C511T
c.C862T
c.C1123T
c.C991T		p.R171C
p.R288C
p.R375C
p.R331C		21.7-Yuen2015 G
CYP17A1     1-0346-004chr10:
104592864-104592864		CTexonicDe novosynonymous SNVNM_000102c.G855Ap.E285E--Yuen2015 G
DKK3     1-0345-003chr11:
11986190-11986190		GAexonicDe novononsynonymous SNVNM_001018057
NM_013253
NM_015881		c.C874T
c.C874T
c.C874T		p.R292C
p.R292C
p.R292C		18.15-Yuen2015 G
DCAF4L1     2-0305-004chr4:
41983937-41983937		CGexonicDe novononsynonymous SNVNM_001029955c.C128Gp.S43C0.015-Yuen2015 G
ABCF1     2-0305-004chr6:
30550264-30550264		AGexonicDe novononsynonymous SNVNM_001025091c.A772Gp.K258E20.7-Yuen2015 G
PRRC2C     1-0346-004chr1:
171560763-171560763		GAexonicDe novononsynonymous SNVNM_015172c.G8231Ap.R2744Q14.38-Yuen2015 G
PP2D1     2-0309-005chr3:
20027569-20027569		GAexonicDe novononsynonymous SNVNM_001252657c.C1196Tp.A399V12.09-Yuen2015 G
NAXE     2-0309-005chr1:
156562185-156562185		GGCexonicDe novoframeshift insertionNM_144772c.321dupCp.S107fs-1.647E-5Yuen2015 G
KMT2D     2-0309-005chr12:
49444268-49444268		GTexonicDe novononsynonymous SNVNM_003482c.C3103Ap.Q1035K0.128-Yuen2015 G
DRAM1     2-0319-004chr12:
102271677-102271677		AGexonicDe novononsynonymous SNVNM_018370c.A110Gp.N37S15.794.837E-5Yuen2015 G
TRAPPC10     2-0318-004chr21:
45483599-45483599		CTexonicDe novononsynonymous SNVNM_003274c.C971Tp.P324L35.0-Yuen2015 G
SLC22A25     2-0319-004chr11:
62996969-62996969		AGexonicDe novosynonymous SNVNM_199352c.T156Cp.H52H--Yuen2015 G
CFAP43     2-0323-003chr10:
105944885-105944885		CTexonicDe novononsynonymous SNVNM_025145c.G2030Ap.R677Q10.442.0E-4Yuen2015 G
RBP7     2-0323-003chr1:
10067715-10067715		CTexonicDe novononsynonymous SNVNM_052960c.C161Tp.T54M17.561.0E-4Yuen2015 G
GRIK1     2-0319-004chr21:
31311702-31311702		GAexonicDe novosynonymous SNVNM_000830
NM_175611		c.C117T
c.C117T		p.I39I
p.I39I		--Yuen2015 G
HEATR5B     2-0323-004chr2:
37304078-37304078		TCexonicDe novosynonymous SNVNM_019024c.A423Gp.L141L--Yuen2015 G
CDC42EP4     2-0323-003chr17:
71281964-71281964		CAexonicDe novononsynonymous SNVNM_012121c.G676Tp.D226Y17.31-Yuen2015 G
HJURP     2-0323-003chr2:
234749297-234749297		GAexonicDe novononsynonymous SNVNM_001282963
NM_001282962
NM_018410		c.C1874T
c.C1967T
c.C2129T		p.P625L
p.P656L
p.P710L		6.9221.672E-5Yuen2015 G
NOTCH3     2-1085-003chr19:
15278100-15278100		GCexonicDe novononsynonymous SNVNM_000435c.C5322Gp.D1774E1.353-Yuen2015 G
MYBBP1A     2-1086-003chr17:
4444852-4444852		CTexonicDe novononsynonymous SNVNM_001105538
NM_014520		c.G3203A
c.G3203A		p.R1068H
p.R1068H		8.2649.929E-5Yuen2015 G
CCNT1     2-1085-003chr12:
49089836-49089836		CTexonicDe novononsynonymous SNVNM_001240c.G652Ap.G218R32.03.297E-5Yuen2015 G
PM20D1     2-1086-004chr1:
205819154-205819154		AGexonicDe novononsynonymous SNVNM_152491c.T47Cp.L16P15.61-Yuen2015 G
DACH1     1-0403-004chr13:
72134055-72134055		GTexonicDe novosynonymous SNVNM_080759c.C1338Ap.P446P--Yuen2015 G
ADAMTS9     1-0433-003chr3:
64672513-64672513		ATexonicDe novononsynonymous SNVNM_182920c.T247Ap.W83R11.5-Yuen2015 G
NLGN1     2-1169-003chr3:
173996749-173996749		GAexonicDe novononsynonymous SNVNM_014932c.G958Ap.V320I22.28.997E-6Yuen2015 G
PCDHGA10     2-1169-003chr5:
140794088-140794088		TGexonicDe novononsynonymous SNVNM_018913
NM_032090		c.T1346G
c.T1346G		p.I449S
p.I449S		12.91-Yuen2015 G
ZZEF1     1-0458-004chr17:
3920792-3920792		GAexonicDe novononsynonymous SNVNM_015113c.C7874Tp.S2625F15.17-Yuen2015 G
RTN4     1-0458-004chr2:
55253907-55253907		TAexonicDe novononsynonymous SNVNM_020532
NM_207521		c.A1328T
c.A710T		p.D443V
p.D237V		16.04-Yuen2015 G
ERC2     1-0458-005chr3:
56468640-56468640		GAexonicDe novosynonymous SNVNM_015576c.C396Tp.H132H--Yuen2015 G
FNDC1     1-0458-005chr6:
159660857-159660857		AGexonicDe novononsynonymous SNVNM_032532c.A4489Gp.T1497A10.34-Yuen2015 G
SFRP2     1-0458-004chr4:
154702649-154702649		CTexonicDe novononsynonymous SNVNM_003013c.G842Ap.R281K9.962-Yuen2015 G
FYCO1     1-0458-005chr3:
46011251-46011251		CTexonicDe novosynonymous SNVNM_024513c.G546Ap.T182T-1.0E-4Yuen2015 G
HPS6     2-1235-003chr10:
103826684-103826684		CTexonicDe novosynonymous SNVNM_024747c.C1453Tp.L485L--Yuen2015 G
PRRC2C     1-0459-003chr1:
171510053-171510053		AGexonicDe novononsynonymous SNVNM_015172c.A3442Gp.I1148V4.343-Yuen2015 G
DXO     1-0459-004chr6:
31938129-31938129		TCexonicDe novosynonymous SNVNM_005510c.A939Gp.E313E0.867-Yuen2015 G
KMT2D     1-0469-005chr12:
49440421-49440421		GAexonicDe novosynonymous SNVNM_003482c.C4389Tp.T1463T-9.17E-5Yuen2015 G
LRFN3     1-0130-003chr19:
36431517-36431517		GCexonicDe novononsynonymous SNVNM_024509c.G1190Cp.C397S6.769-Yuen2015 G
CACNA1B     1-0469-005chr9:
140943742-140943742		GAexonicDe novononsynonymous SNVNM_000718
NM_001243812		c.G3685A
c.G3685A		p.G1229S
p.G1229S		33.0-Yuen2015 G
EXTL1     1-0469-003chr1:
26357645-26357645		GAexonicDe novononsynonymous SNVNM_004455c.G1124Ap.G375E11.54-Yuen2015 G
ZNF804B     1-0469-003chr7:
88965419-88965419		CAexonicDe novononsynonymous SNVNM_181646c.C3123Ap.N1041K12.02-Yuen2015 G
FBXL6     1-0231-003chr8:
145579963-145579963		GCexonicDe novononsynonymous SNVNM_012162
NM_024555		c.C1222G
c.C1204G		p.R408G
p.R402G		2.394-Yuen2015 G
ANK2     1-0234-004chr4:
114280060-114280060		ATexonicDe novononsynonymous SNVNM_001148c.A10286Tp.E3429V14.35-Yuen2015 G
TLN1     1-0160-003chr9:
35704400-35704400		GAexonicDe novosynonymous SNVNM_006289c.C5976Tp.L1992L-2.476E-5Yuen2015 G
LAMA3     2-1258-003chr18:
21483951-21483951		ATexonicDe novostopgainNM_001127718
NM_000227
NM_001127717
NM_198129		c.A1378T
c.A1546T
c.A6205T
c.A6373T		p.K460X
p.K516X
p.K2069X
p.K2125X		48.0-Yuen2015 G
PRRC2B     1-0171-004chr9:
134346335-134346335		CTexonicDe novononsynonymous SNVNM_013318c.C2072Tp.P691L20.33.367E-5Yuen2015 G
CAPN15     1-0286-003chr16:
599291-599291		CAexonicDe novononsynonymous SNVNM_005632c.C1662Ap.F554L10.96-Yuen2015 G
MYO15A     1-0286-003chr17:
18049226-18049226		GAexonicDe novononsynonymous SNVNM_016239c.G6314Ap.R2105Q1.9162.556E-5Yuen2015 G
CUL2     1-0234-004chr10:
35299247-35299247		CTexonicDe novononsynonymous SNVNM_001198777
NM_001198778
NM_001198779
NM_003591		c.G2230A
c.G2287A
c.G2269A
c.G2230A		p.V744I
p.V763I
p.V757I
p.V744I		18.152.523E-5Yuen2015 G
THRA     1-0273-003chr17:
38245626-38245626		CTexonicDe novononsynonymous SNVNM_199334c.C1150Tp.R384C22.0-Yuen2015 G
KIAA1217     1-0292-003chr10:
24822132-24822132		ACexonicDe novononsynonymous SNVNM_001282769
NM_001282770
NM_001282767
NM_001282768
NM_019590
NM_001098500		c.A2429C
c.A2429C
c.A3272C
c.A3275C
c.A3380C
c.A3140C		p.E810A
p.E810A
p.E1091A
p.E1092A
p.E1127A
p.E1047A		18.79-Yuen2015 G
CNTN2     1-0292-003chr1:
205038619-205038619		CTexonicDe novononsynonymous SNVNM_005076c.C2126Tp.A709V2.805-Yuen2015 G
CAPN12     1-0286-003chr19:
39233725-39233725		CAexonicDe novosynonymous SNVNM_144691c.G255Tp.P85P--Yuen2015 G
PALLD     1-0292-003chr4:
169604184-169604184		TCexonicDe novononsynonymous SNVNM_001166109
NM_001166108
NM_016081		c.T44C
c.T1190C
c.T1190C		p.I15T
p.I397T
p.I397T		19.51-Yuen2015 G
HIST1H2AE     1-0366-003chr6:
26217482-26217482		CTexonicDe novosynonymous SNVNM_021052c.C280Tp.L94L--Yuen2015 G
TNFAIP3     1-0366-003chr6:
138196072-138196072		CCGCTCAAGGAAACAGACAexonicDe novoframeshift insertionNM_001270507
NM_001270508
NM_006290		c.386_387insGCTCAAGGAAACAGACA
c.386_387insGCTCAAGGAAACAGACA
c.386_387insGCTCAAGGAAACAGACA		p.T129fs
p.T129fs
p.T129fs		--Yuen2015 G
CA10     1-0320-003chr17:
49710999-49710999		GAexonicDe novononsynonymous SNVNM_020178
NM_001082533
NM_001082534		c.C802T
c.C802T
c.C802T		p.R268C
p.R268C
p.R268C		20.5-Yuen2015 G
ING1     1-0346-003chr13:
111372208-111372208		CTexonicDe novononsynonymous SNVNM_001267728
NM_005537
NM_198217
NM_198218
NM_198219		c.C718T
c.C1198T
c.C637T
c.C562T
c.C769T		p.R240W
p.R400W
p.R213W
p.R188W
p.R257W		15.62-Yuen2015 G
STAB2     1-0366-003chr12:
104107450-104107450		GAexonicDe novononsynonymous SNVNM_017564c.G4441Ap.G1481S22.38.237E-6Yuen2015 G
NRN1L     1-0366-003chr16:
67920037-67920037		GAexonicDe novononsynonymous SNVNM_198443c.G373Ap.G125S12.09-Yuen2015 G
PCLO     1-0366-003chr7:
82532022-82532022		GTexonicDe novosynonymous SNVNM_014510
NM_033026		c.C13473A
c.C13473A		p.I4491I
p.I4491I		--Yuen2015 G
PKN3     1-0366-003chr9:
131482852-131482852		CTexonicDe novosynonymous SNVNM_013355c.C2637Tp.F879F-1.697E-5Yuen2015 G
FOCAD     1-0389-003chr9:
20820997-20820997		TAexonicDe novononsynonymous SNVNM_017794c.T1720Ap.S574T8.188-Yuen2015 G
FAS     1-0389-003chr10:
90770523-90770523		CTexonicDe novosynonymous SNVNM_000043
NM_152872		c.C519T
c.C519T		p.N173N
p.N173N		--Yuen2015 G
MPRIP     1-0366-003chr17:
17083924-17083924		GAexonicDe novononsynonymous SNVNM_201274c.G3049Ap.V1017I19.541.647E-5Yuen2015 G
EYS     1-0389-003chr6:
66205041-66205041		AGexonicDe novononsynonymous SNVNM_198283
NM_001142800
NM_001142801
NM_001292009		c.T263C
c.T263C
c.T263C
c.T263C		p.L88P
p.L88P
p.L88P
p.L88P		13.45-Yuen2015 G
IL25     1-0479-003chr14:
23844975-23844975		CTexonicDe novosynonymous SNVNM_022789
NM_172314		c.C420T
c.C372T		p.F140F
p.F124F		--Yuen2015 G
STXBP1     2-0006-003chr9:
130444716-130444717		GCGexonicDe novoframeshift deletionNM_001032221
NM_003165		c.1580delC
c.1580delC		p.A527fs
p.A527fs		--Yuen2015 G
ATG2B     2-1292-003chr14:
96775903-96775903		CTexonicDe novononsynonymous SNVNM_018036c.G4190Ap.R1397H13.042.478E-5Yuen2015 G
DCHS1     1-0389-003chr11:
6661550-6661550		CTexonicDe novononsynonymous SNVNM_003737c.G1295Ap.R432Q23.5-Yuen2015 G
NBEA     1-0389-003chr13:
36241515-36241515		CTexonicDe novosynonymous SNVNM_001204197
NM_015678		c.C1785T
c.C8406T		p.G595G
p.G2802G		-8.331E-6Yuen2015 G
PGC     2-0018-003chr6:
41710226-41710226		AGexonicDe novononsynonymous SNVNM_001166424
NM_002630		c.T449C
c.T449C		p.V150A
p.V150A		15.94-Yuen2015 G
CPNE6     2-0018-003chr14:
24546516-24546516		GAexonicDe novononsynonymous SNVNM_006032
NM_001280558		c.G1453A
c.G1618A		p.D485N
p.D540N		33.0-Yuen2015 G
LAX1     2-0011-003chr1:
203743182-203743182		GAexonicDe novosynonymous SNVNM_001136190
NM_001282878
NM_017773		c.G522A
c.G342A
c.G570A		p.S174S
p.S114S
p.S190S		-1.0E-4Yuen2015 G
MCM6     2-1292-003chr2:
136603919-136603919		GAexonicDe novosynonymous SNVNM_005915c.C2097Tp.Y699Y--Yuen2015 G
LRRC8D     2-0018-003chr1:
90399875-90399875		TCexonicDe novosynonymous SNVNM_001134479
NM_018103		c.T1248C
c.T1248C		p.F416F
p.F416F		--Yuen2015 G
DIDO1     2-0126-003chr20:
61511208-61511208		GAexonicDe novononsynonymous SNVNM_001193369
NM_033081		c.C6100T
c.C6100T		p.P2034S
p.P2034S		13.01-Yuen2015 G
UBR4     2-0126-004chr1:
19467975-19467975		CAexonicDe novononsynonymous SNVNM_020765c.G8354Tp.G2785V18.16-Yuen2015 G
ZWILCH     2-0070-003chr15:
66821214-66821214		GGCexonicDe novoframeshift insertionNM_001287822
NM_001287823
NM_001287821
NM_017975		c.652_653insC
c.652_653insC
c.652_653insC
c.994_995insC		p.V218fs
p.V218fs
p.V218fs
p.V332fs		--Yuen2015 G
KIF11     2-0122-003chr10:
94373233-94373234		AGAexonicDe novoframeshift deletionNM_004523c.890delGp.R297fs--Yuen2015 G
C1orf226     2-0143-005chr1:
162353432-162353432		GCexonicDe novononsynonymous SNVNM_001085375
NM_001135240		c.G778C
c.G907C		p.D260H
p.D303H		17.99-Yuen2015 G
PTPN21     2-0143-005chr14:
88945264-88945264		CAexonicDe novosynonymous SNVNM_007039c.G2511Tp.G837G--Yuen2015 G
ZNF213     2-0126-004chr16:
3187462-3187463		GAGexonicDe novoframeshift deletionNM_001134655
NM_004220		c.182delA
c.182delA		p.E61fs
p.E61fs		--Yuen2015 G
KIF1B     2-0143-005chr1:
10331599-10331599		CTexonicDe novostopgainNM_015074
NM_183416		c.C760T
c.C760T		p.R254X
p.R254X		36.0-Yuen2015 G
PTDSS1     2-0197-003chr8:
97332548-97332548		AGexonicDe novononsynonymous SNVNM_001290225
NM_014754		c.A710G
c.A1148G		p.Y237C
p.Y383C		14.34-Yuen2015 G
ANKRD13D     2-0197-003chr11:
67059560-67059560		GAexonicDe novononsynonymous SNVNM_207354c.G640Ap.A214T25.41.665E-5Yuen2015 G
DSG2     2-0143-005chr18:
29125767-29125767		GAexonicDe novosynonymous SNVNM_001943c.G2418Ap.S806S-1.657E-5Yuen2015 G
OCRL     2-0143-005chrX:
128696388-128696388		AGexonicDe novononsynonymous SNVNM_000276
NM_001587		c.A967G
c.A967G		p.M323V
p.M323V		19.34-Yuen2015 G
MYH6     2-0256-003chr14:
23859357-23859357		CTexonicDe novononsynonymous SNVNM_002471c.G3641Ap.R1214Q32.08.294E-6Yuen2015 G
MELTF     2-0298-004chr3:
196733418-196733418		AACsplicingDe novosplicing--Yuen2015 G
ZMYM1     2-0197-003chr1:
35579344-35579344		AGexonicDe novononsynonymous SNVNM_001289089
NM_024772
NM_001289088
NM_001289090
NM_001289091		c.A1856G
c.A1913G
c.A1913G
c.A1913G
c.A833G		p.N619S
p.N638S
p.N638S
p.N638S
p.N278S		9.348-Yuen2015 G
DR1     2-0225-003chr1:
93826156-93826156		CTexonicDe novononsynonymous SNVNM_001938c.C491Tp.A164V21.11.654E-5Yuen2015 G
Source Variant Information

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Paper Information
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Technology
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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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