or
or
Exact

Results for "Neale2012"

Variant Events: 176

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
CCNJ     09C87630chr10:
97816903-97816903		GAexonicDe novosynonymous SNVNM_001134375
NM_001134376
NM_019084		c.G639A
c.G603A
c.G606A		p.S213S
p.S201S
p.S202S		-3.0E-4Neale2012 E
TDRD5     09C99485chr1:
179609178-179609178		GAexonicDe novosynonymous SNVNM_001199092
NM_001199085
NM_001199089
NM_001199091
NM_173533		c.G390A
c.G1725A
c.G1725A
c.G1725A
c.G1725A		p.R130R
p.R575R
p.R575R
p.R575R
p.R575R		--Neale2012 E
CACNA1E     AU03604chr1:
181721285-181721285		CTexonicDe novosynonymous SNVNM_001205294
NM_000721
NM_001205293		c.C3681T
c.C3738T
c.C3738T		p.N1227N
p.N1246N
p.N1246N		--Neale2012 E
DUSP3     10C103326chr17:
41847180-41847180		GAexonicDe novononsynonymous SNVNM_004090c.C355Tp.R119W23.8-Neale2012 E
EWSR1     10C102529chr22:
29693821-29693821		AGexonicDe novosynonymous SNVNM_001163286
NM_001163285
NM_005243
NM_013986		c.A1131G
c.A1296G
c.A1299G
c.A1314G		p.K377K
p.K432K
p.K433K
p.K438K		6.37-Neale2012 E
IQCE     09C83343Achr7:
2629665-2629665		AGexonicDe novononsynonymous SNVNM_001287501
NM_001287502
NM_001287500
NM_001287499
NM_152558		c.A974G
c.A974G
c.A1121G
c.A1169G
c.A1169G		p.H325R
p.H325R
p.H374R
p.H390R
p.H390R		8.338-Neale2012 E
NFASC     09C87225chr1:
204978698-204978698		CTexonicDe novosynonymous SNVNM_001160331
NM_015090
NM_001160332
NM_001005388		c.C3150T
c.C3090T
c.C3105T
c.C3303T		p.N1050N
p.N1030N
p.N1035N
p.N1101N		9.507-Neale2012 E
PRPF39     10C102529chr14:
45571806-45571806		GAexonicDe novostopgainNM_017922c.G644Ap.W215X25.2-Neale2012 E
CLTC     AU03604chr17:
57758401-57758401		TCexonicDe novosynonymous SNVNM_001288653
NM_004859		c.T3060C
c.T3048C		p.S1020S
p.S1016S		--Neale2012 E
MACC1     AU12104chr7:
20199071-20199071		TCexonicDe novononsynonymous SNVNM_182762c.A913Gp.M305V13.28-Neale2012 E
USH2A     09C87038chr1:
216363573-216363573		AGexonicDe novononsynonymous SNVNM_007123
NM_206933		c.T4388C
c.T4388C		p.L1463S
p.L1463S		12.03-Neale2012 E
TBX4     09C81777chr17:
59560616-59560616		CTexonicDe novosynonymous SNVNM_018488c.C1377Tp.S459S-3.0E-4Neale2012 E
GAK     10C102470chr4:
898481-898481		GAexonicDe novononsynonymous SNVNM_001286833
NM_005255		c.C232T
c.C469T		p.R78C
p.R157C		13.324.18E-5Neale2012 E
CDCA7L     09C96222chr7:
21947980-21947980		GAexonicDe novononsynonymous SNVNM_001127371
NM_018719
NM_001127370		c.C311T
c.C449T
c.C347T		p.T104I
p.T150I
p.T116I		21.0-Neale2012 E
SBF1     09C99485chr22:
50898487-50898487		CTexonicDe novononsynonymous SNVNM_002972c.G3385Ap.D1129N27.4-Neale2012 E
SYNE2     09C86700chr14:
64532269-64532269		GAexonicDe novosynonymous SNVNM_015180
NM_182914		c.G10332A
c.G10332A		p.S3444S
p.S3444S		--Neale2012 E
NUP98     09C85773Achr11:
3721958-3721958		GAexonicDe novosynonymous SNVNM_016320
NM_139132		c.C3624T
c.C3624T		p.H1208H
p.H1208H		8.86-Neale2012 E
FBXL5     09C89851chr4:
15640246-15640246		TGexonicDe novosynonymous SNVNM_001193534
NM_001193535
NM_012161		c.A468C
c.A417C
c.A468C		p.A156A
p.A139A
p.A156A		10.64-Neale2012 E
DENND5A     09C95788chr11:
9163520-9163520		CTsplicing;exonicDe novononsynonymous SNVNM_015213c.G3647Ap.G1216D17.37-Neale2012 E
ABCA13     10C103964chr7:
48390312-48390312		AGexonicDe novononsynonymous SNVNM_152701c.A10277Gp.N3426S18.034.969E-5Neale2012 E
SMCHD1     10C101297chr18:
2743776-2743776		AGexonicDe novononsynonymous SNVNM_015295c.A3651Gp.I1217M9.723-Neale2012 E
REST     09C96031chr4:
57798002-57798002		CGexonicDe novononsynonymous SNVNM_001193508
NM_005612		c.C2978G
c.C2978G		p.P993R
p.P993R		22.7-Neale2012 E
SPAST     09C98906chr2:
32361662-32361663		CTCexonicDe novoframeshift deletionNM_199436
NM_014946		c.1181delT
c.1277delT		p.L394fs
p.L426fs		--Neale2012 E
ELK1     09C86986chrX:
47497356-47497356		CTexonicDe novononsynonymous SNVNM_005229
NM_001114123		c.G880A
c.G880A		p.A294T
p.A294T		1.509-Neale2012 E
ZKSCAN5     09C99485chr7:
99123456-99123456		AGexonicDe novononsynonymous SNVNM_014569
NM_145102		c.A793G
c.A793G		p.M265V
p.M265V		8.153-Neale2012 E
AHNAK2     10C103326chr14:
105411605-105411605		CGexonicDe novononsynonymous SNVNM_138420c.G10183Cp.E3395Q0.0041.657E-5Neale2012 E
DCAF4     AU01303chr14:
73420965-73420965		GCexonicDe novononsynonymous SNVNM_181341
NM_181340
NM_001163508
NM_001163509
NM_015604		c.G722C
c.G602C
c.G905C
c.G839C
c.G902C		p.S241T
p.S201T
p.S302T
p.S280T
p.S301T		24.0-Neale2012 E
C7orf43     10C102375chr7:
99755468-99755468		TGexonicDe novononsynonymous SNVNM_018275c.A505Cp.K169Q15.29-Neale2012 E
APLNR     09C84854chr11:
57003801-57003801		TCexonicDe novosynonymous SNVNM_005161c.A678Gp.Q226Q--Neale2012 E
MYO5B     10C100577chr18:
47506898-47506898		GAexonicDe novosynonymous SNVNM_001080467c.C972Tp.S324S--Neale2012 E
GNRHR     08C75268chr4:
68619768-68619768		GAexonicDe novononsynonymous SNVNM_000406
NM_001012763		c.C286T
c.C286T		p.P96S
p.P96S		19.348.24E-6Neale2012 E
KIAA1549     09C91113chr7:
138552798-138552798		GAexonicDe novononsynonymous SNVNM_001164665
NM_020910		c.C4852T
c.C4852T		p.R1618W
p.R1618W		17.22.545E-5Neale2012 E
GPRIN3     10C102633Achr4:
90170534-90170534		CGexonicDe novononsynonymous SNVNM_198281c.G728Cp.G243A8.202-Neale2012 E
TCF3     09C97625chr19:
1619177-1619177		GTexonicDe novononsynonymous SNVNM_001136139
NM_003200		c.C1383A
c.C1383A		p.N461K
p.N461K		14.78-Neale2012 E
ZNF107     09C85024chr7:
64126544-64126547		TCTCTUTR5De novo--Neale2012 E
ABCA12     04C33621Achr2:
215846997-215846997		CGexonicDe novononsynonymous SNVNM_015657
NM_173076		c.G3539C
c.G4493C		p.R1180T
p.R1498T		18.69-Neale2012 E
CERS6     10C102633Achr2:
169626279-169626285		AATTAAGAUTR3De novo--Neale2012 E
KMT2A     08C75268chr11:
118344818-118344818		TAexonicDe novononsynonymous SNVNM_001197104
NM_005933		c.T2944A
c.T2944A		p.S982T
p.S982T		6.688-Neale2012 E
AOC3     09C90017chr17:
41004302-41004302		AGexonicDe novosynonymous SNVNM_001277731
NM_003734		c.A942G
c.A942G		p.L314L
p.L314L		-2.487E-5Neale2012 E
APOC3     09C89846chr11:
116701581-116701581		GAexonicDe novononsynonymous SNVNM_000040c.G148Ap.V50M10.356.811E-5Neale2012 E
ANTXR1     10C101202chr2:
69409650-69409650		CTexonicDe novononsynonymous SNVNM_032208c.C1211Tp.T404I19.24-Neale2012 E
ABCC12     5069_202_childchr16:
48175156-48175156		CTexonicDe novosynonymous SNVNM_033226c.G384Ap.V128V--Neale2012 E
METTL14     09C95782chr4:
119626841-119626841		AGexonicDe novononsynonymous SNVNM_020961c.A931Gp.I311V20.9-Neale2012 E
ADAM22     10C102280chr7:
87760687-87760687		GAexonicDe novononsynonymous SNVNM_004194
NM_016351
NM_021721
NM_021722
NM_021723		c.G929A
c.G929A
c.G929A
c.G929A
c.G929A		p.R310H
p.R310H
p.R310H
p.R310H
p.R310H		16.188.298E-6Neale2012 E
AXDND1     06C55684Achr1:
179337957-179337957		AGexonicDe novosynonymous SNVNM_144696c.A120Gp.K40K--Neale2012 E
ZNF638     10C102294chr2:
71635358-71635358		CGexonicDe novononsynonymous SNVNM_001014972
NM_001252612
NM_001252613
NM_014497		c.C3242G
c.C3242G
c.C3242G
c.C3242G		p.P1081R
p.P1081R
p.P1081R
p.P1081R		13.19-Neale2012 E
CCDC90B     17169chr11:
82989819-82989819		TCexonicDe novononsynonymous SNVNM_001286116
NM_021825		c.A247G
c.A274G		p.N83D
p.N92D		18.82-Neale2012 E
C10orf90     5090_childchr10:
128118361-128118361		AGexonicDe novosynonymous SNVNM_001004298c.T1956Cp.S652S9.428-Neale2012 E
KANSL2     08C75187chr12:
49062942-49062942		GAexonicDe novononsynonymous SNVNM_017822c.C823Tp.H275Y16.35-Neale2012 E
LGR4     09C96674chr11:
27397988-27397989		GAGintronicDe novo--Neale2012 E
MDH1B     10C102323chr2:
207621863-207621865		AAGAintronicDe novo--Neale2012 E
INTU     09C81661chr4:
128595288-128595288		CTexonicDe novosynonymous SNVNM_015693c.C1101Tp.L367L--Neale2012 E
DPP3     09C83343Achr11:
66261048-66261048		GAexonicDe novononsynonymous SNVNM_001256670
NM_005700
NM_130443		c.G1243A
c.G1333A
c.G1333A		p.V415M
p.V445M
p.V445M		22.3-Neale2012 E
CDX2     5103_201_childchr13:
28542803-28542803		TCexonicDe novononsynonymous SNVNM_001265c.A341Gp.H114R10.59-Neale2012 E
CIAO1     03C16507Achr2:
96936917-96936917		CGexonicDe novononsynonymous SNVNM_004804c.C848Gp.P283R10.79-Neale2012 E
CYTH4     10C102280chr22:
37693679-37693679		CTexonicDe novosynonymous SNVNM_013385c.C309Tp.G103G--Neale2012 E
DAG1     10C108663chr3:
49570115-49570115		CTexonicDe novononsynonymous SNVNM_001177639
NM_001177643
NM_001177644
NM_004393
NM_001177635
NM_001177637
NM_001177638
NM_001177640
NM_001177641
NM_001177642
NM_001177636
NM_001165928
NM_001177634		c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T
c.C2171T		p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L
p.P724L		10.87-Neale2012 E
COL15A1     02C11573Achr9:
101832099-101832099		AGexonicDe novosynonymous SNVNM_001855c.A4098Gp.A1366A--Neale2012 E
MINDY2     09C98975chr15:
59064294-59064294		AGexonicDe novononsynonymous SNVNM_001040450
NM_001040453		c.A700G
c.A700G		p.K234E
p.K234E		17.328.368E-6Neale2012 E
PPP1R15B     5061_201_childchr1:
204380092-204380092		GAexonicDe novostopgainNM_032833c.C448Tp.Q150X37.0-Neale2012 E
RELN     09C90312chr7:
103322603-103322603		GAexonicDe novostopgainNM_005045
NM_173054		c.C1249T
c.C1249T		p.Q417X
p.Q417X		39.0-Neale2012 E
CYP20A1     5141_201_childchr2:
204161598-204161598		AGexonicDe novosynonymous SNVNM_177538c.A1356Gp.E452E--Neale2012 E
C3     09C87630chr19:
6678390-6678390		GCexonicDe novononsynonymous SNVNM_000064c.C4707Gp.I1569M17.54-Neale2012 E
ZMYM2     09C95788chr13:
20641159-20641163		TGTAATsplicingDe novosplicing-8.711E-6Neale2012 E
ELL     5141_201_childchr19:
18576690-18576690		CTexonicDe novosynonymous SNVNM_006532c.G222Ap.A74A-1.212E-5Neale2012 E
FAT1     07C70281chr4:
187538324-187538324		TGexonicDe novononsynonymous SNVNM_005245c.A8910Cp.E2970D9.697-Neale2012 E
SPP2     5112_201_childchr2:
234969088-234969089		TCTexonicDe novoframeshift deletionNM_006944c.410delCp.S137fs--Neale2012 E
DENR     07C69808chr12:
123246737-123246737		GAexonicDe novononsynonymous SNVNM_003677c.G110Ap.C37Y25.2-Neale2012 E
SMARCC2     09C90312chr12:
56566368-56566368		CAsplicingDe novosplicing18.68-Neale2012 E
DUSP15     10C108663chr20:
30450489-30450489		GAexonicDe novononsynonymous SNVNM_001012644
NM_080611
NM_177991		c.C11T
c.C320T
c.C11T		p.T4M
p.T107M
p.T4M		28.73.0E-4Neale2012 E
GPX8     5069_202_childchr5:
54456842-54456842		GAexonicDe novosynonymous SNVNM_001008397
NM_001306197		c.G225A
c.G72A		p.V75V
p.V24V		--Neale2012 E
INMT     08C76914chr7:
30791907-30791907		GAexonicDe novosynonymous SNVNM_001199219
NM_006774		c.G141A
c.G141A		p.K47K
p.K47K		--Neale2012 E
FGF22     09C86232Achr19:
643270-643270		GAexonicDe novononsynonymous SNVNM_001300812
NM_020637		c.G250A
c.G250A		p.V84M
p.V84M		16.976.695E-5Neale2012 E
SPRR2D     09C91248Achr1:
153012685-153012685		TAexonicDe novosynonymous SNVNM_006945c.A138Tp.P46P--Neale2012 E
FAT1     09C98909chr4:
187524608-187524608		TCexonicDe novononsynonymous SNVNM_005245c.A11072Gp.H3691R10.87-Neale2012 E
GLDC     5096_202_child chr9:
6534708-6534708		GAexonicDe novosynonymous SNVNM_000170c.C2919Tp.L973L-4.399E-5Neale2012 E
JMJD1C     08C74853chr10:
64967942-64967942		TCexonicDe novononsynonymous SNVNM_001282948
NM_032776		c.A2941G
c.A3487G		p.I981V
p.I1163V		5.56-Neale2012 E
PIAS1     AU03304chr15:
68378807-68378807		GAexonicDe novononsynonymous SNVNM_016166c.G188Ap.R63Q21.28.288E-6Neale2012 E
KCNMA1     09C90312chr10:
78943225-78943225		CTexonicDe novosynonymous SNVNM_001271518
NM_001014797
NM_001161352
NM_001161353
NM_001271519
NM_002247		c.G600A
c.G762A
c.G762A
c.G762A
c.G762A
c.G762A		p.T200T
p.T254T
p.T254T
p.T254T
p.T254T
p.T254T		6.9441.662E-5Neale2012 E
SLC1A2     09C87038chr11:
35395749-35395765		CTGTGACTTGCTGGCTTCintronicDe novo--Neale2012 E
ITGB2     06C55684Achr21:
46311861-46311861		CTexonicDe novosynonymous SNVNM_000211
NM_001127491
NM_001303238		c.G1275A
c.G1275A
c.G1068A		p.S425S
p.S425S
p.S356S		-8.354E-6Neale2012 E
SLC6A3     09C91248Achr5:
1414895-1414895		GAexonicDe novononsynonymous SNVNM_001044c.C1067Tp.T356M26.03.323E-5Neale2012 E
TOP1     5060_201_childchr20:
39742794-39742794		GAexonicDe novononsynonymous SNVNM_003286c.G1637Ap.R546Q16.97-Neale2012 E
FBLN7     09C90833chr2:
112922678-112922678		GAexonicDe novosynonymous SNVNM_001128165
NM_153214		c.G336A
c.G336A		p.R112R
p.R112R		--Neale2012 E
MCM2     5097_childchr3:
127327353-127327353		CTexonicDe novosynonymous SNVNM_004526c.C1230Tp.D410D9.8027.471E-5Neale2012 E
MYOM2     AU02304chr8:
2027642-2027642		CTexonicDe novosynonymous SNVNM_003970c.C1464Tp.A488A-1.647E-5Neale2012 E
MEF2C     5113_201_childchr5:
88100432-88100432		TCexonicDe novononsynonymous SNVNM_001193348
NM_001193349
NM_001308002
NM_001193350
NM_002397
NM_001131005
NM_001193347		c.A241G
c.A241G
c.A241G
c.A241G
c.A241G
c.A241G
c.A241G		p.N81D
p.N81D
p.N81D
p.N81D
p.N81D
p.N81D
p.N81D		33.0-Neale2012 E
CCAR2     08C76914chr8:
22476678-22476678		GAexonicDe novononsynonymous SNVNM_021174c.G2537Ap.R846H20.5-Neale2012 E
PIWIL4     09C89847chr11:
94340642-94340642		ATexonicDe novononsynonymous SNVNM_152431c.A1676Tp.Y559F17.73-Neale2012 E
ARNT2     09C96107chr15:
80806697-80806697		AGexonicDe novosynonymous SNVNM_014862c.A828Gp.Q276Q--Neale2012 E
MCPH1     09C97129chr8:
6500546-6500546		TAexonicDe novosynonymous SNVNM_024596c.T2484Ap.P828P--Neale2012 E
KIRREL3     08C76914chr11:
126333180-126333180		CTexonicDe novononsynonymous SNVNM_001161707
NM_001301097
NM_032531		c.G614A
c.G614A
c.G614A		p.R205Q
p.R205Q
p.R205Q		25.41.687E-5Neale2012 E
MPDZ     5088_childchr9:
13247770-13247770		CTexonicDe novononsynonymous SNVNM_001261406
NM_001261407
NM_003829		c.G47A
c.G47A
c.G47A		p.R16H
p.R16H
p.R16H		27.11.0E-4Neale2012 E
MUC4     08C77861chr3:
195505250-195505250		GAexonicDe novosynonymous SNVNM_004532
NM_018406		c.C159T
c.C12867T		p.T53T
p.T4289T		--Neale2012 E
MTMR12     09C95788chr5:
32263299-32263299		CTexonicDe novostopgainNM_001040446
NM_001294343
NM_001294344		c.G633A
c.G633A
c.G633A		p.W211X
p.W211X
p.W211X		38.0-Neale2012 E
MICALCL     5069_202_childchr11:
12371396-12371396		CGexonicDe novononsynonymous SNVNM_032867c.C1741Gp.Q581E17.13-Neale2012 E
MKL2     5093_childchr16:
14334157-14334157		CTexonicDe novononsynonymous SNVNM_001308142
NM_014048		c.C895T
c.C895T		p.R299W
p.R299W		19.451.659E-5Neale2012 E
DAB2     10C102470chr5:
39376856-39376856		GCexonicDe novononsynonymous SNVNM_001244871
NM_001343		c.C1970G
c.C2033G		p.T657S
p.T678S		11.6-Neale2012 E
NR5A2     5097_childchr1:
200017391-200017391		CTexonicDe novosynonymous SNVNM_001276464
NM_003822
NM_205860		c.C339T
c.C417T
c.C555T		p.L113L
p.L139L
p.L185L		8.781-Neale2012 E
OR8H1     5088_childchr11:
56058115-56058115		CTexonicDe novononsynonymous SNVNM_001005199c.G424Ap.A142T3.2951.0E-4Neale2012 E
CHD2     10C100480chr15:
93518170-93518170		AGexonicDe novononsynonymous SNVNM_001271c.A2567Gp.D856G19.58-Neale2012 E
MYO7A     5141_201_childchr11:
76891512-76891512		CTexonicDe novosynonymous SNVNM_000260
NM_001127179
NM_001127180		c.C2679T
c.C2679T
c.C2679T		p.A893A
p.A893A
p.A893A		-2.704E-5Neale2012 E
MYOF     03C16507Achr10:
95079735-95079735		GCexonicDe novononsynonymous SNVNM_133337
NM_013451		c.C5453G
c.C5492G		p.T1818R
p.T1831R		26.8-Neale2012 E
TBR1     09C86232Achr2:
162275553-162275553		ACexonicDe novononsynonymous SNVNM_006593c.A1120Cp.N374H17.63-Neale2012 E
POLR2A     08C74853chr17:
7416351-7416351		TAexonicDe novononsynonymous SNVNM_000937c.T4768Ap.S1590T19.27-Neale2012 E
RTF1     5096_202_child chr15:
41745214-41745214		ACexonicDe novononsynonymous SNVNM_015138c.A425Cp.D142A16.67-Neale2012 E
PER1     10C108663chr17:
8044457-8044457		TCexonicDe novononsynonymous SNVNM_002616c.A3802Gp.M1268V8.072-Neale2012 E
PLCD4     08C76914chr2:
219483415-219483415		CTexonicDe novononsynonymous SNVNM_032726c.C295Tp.R99C17.592.64E-5Neale2012 E
SUCLA2     08C73740chr13:
48575333-48575333		GAexonicDe novostopgainNM_003850c.C73Tp.Q25X7.221-Neale2012 E
SVIL     08C73740chr10:
29769625-29769625		CAexonicDe novostopgainNM_003174
NM_021738		c.G3940T
c.G5218T		p.E1314X
p.E1740X		48.0-Neale2012 E
TRAF7     10C102370chr16:
2226080-2226080		CTexonicDe novononsynonymous SNVNM_032271c.C1777Tp.R593W22.6-Neale2012 E
RTN4RL1     5103_201_childchr17:
1840824-1840824		CTexonicDe novononsynonymous SNVNM_178568c.G292Ap.G98S23.1-Neale2012 E
SEL1L     5144_201_childchr14:
81952041-81952041		TCexonicDe novosynonymous SNVNM_005065c.A1848Gp.L616L--Neale2012 E
TTF2     5069_202_childchr1:
117632812-117632812		CAexonicDe novononsynonymous SNVNM_003594c.C2478Ap.D826E17.06-Neale2012 E
TUBA1A     AU03503chr12:
49579227-49579227		GAexonicDe novononsynonymous SNVNM_001270399
NM_001270400
NM_006009		c.C922T
c.C817T
c.C922T		p.R308C
p.R273C
p.R308C		15.23-Neale2012 E
TBX18     08C74853chr6:
85470056-85470056		CGexonicDe novononsynonymous SNVNM_001080508c.G516Cp.M172I13.73-Neale2012 E
TOPORS     08C76914chr9:
32542613-32542613		GAexonicDe novononsynonymous SNVNM_001195622
NM_005802		c.C1715T
c.C1910T		p.P572L
p.P637L		3.676-Neale2012 E
UPF1     09C91248Achr19:
18976921-18976921		GAexonicDe novosynonymous SNVNM_001297549
NM_002911		c.G3339A
c.G3306A		p.Q1113Q
p.Q1102Q		--Neale2012 E
ZDHHC1     AC724.childchr16:
67432775-67432775		GAexonicDe novosynonymous SNVNM_013304c.C603Tp.F201F-1.891E-5Neale2012 E
CHD1     10C105228chr5:
98216794-98216794		GCexonicDe novononsynonymous SNVNM_001270c.C3046Gp.L1016V23.8-Neale2012 E
UGT2B10     09C90017chr4:
69681849-69681849		AGexonicDe novononsynonymous SNVNM_001075
NM_001144767		c.A112G
c.A112G		p.M38V
p.M38V		2.058-Neale2012 E
WDR66     09C85591chr12:
122359408-122359408		GAexonicDe novononsynonymous SNVNM_001178003
NM_144668		c.G197A
c.G197A		p.G66E
p.G66E		0.0080.0026Neale2012 E
SNTG1     09C89530chr8:
51705253-51705253		TAexonicDe novononsynonymous SNVNM_001287814
NM_018967
NM_001287813		c.T1307A
c.T1418A
c.T1418A		p.F436Y
p.F473Y
p.F473Y		15.358.264E-6Neale2012 E
NAB2     10C103837chr12:
57484899-57484902		CCTTCintronicDe novo--Neale2012 E
FNIP1     10C104773chr5:
131013499-131013499		TCexonicDe novosynonymous SNVNM_001008738
NM_133372		c.A1332G
c.A1416G		p.P444P
p.P472P		--Neale2012 E
DNAH7     AU02404chr2:
196640603-196640603		ACexonicDe novosynonymous SNVNM_018897c.T11169Gp.T3723T--Neale2012 E
MANSC1     09C98493chr12:
12483385-12483385		GAexonicDe novononsynonymous SNVNM_018050c.C872Tp.A291V6.1581.648E-5Neale2012 E
MOB4     10C104458chr2:
198388394-198388394		CTexonicDe novononsynonymous SNVNM_001204094
NM_015387
NM_199482
NM_001202485		c.C11T
c.C107T
c.C11T
c.C215T		p.T4I
p.T36I
p.T4I
p.T72I		15.53-Neale2012 E
PCDHB16     10C102529chr5:
140563351-140563351		AGexonicDe novononsynonymous SNVNM_020957c.A1217Gp.E406G14.91-Neale2012 E
FN1     09C98474chr2:
216259404-216259404		CTexonicDe novononsynonymous SNVNM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_212474
NM_212476
NM_212478
NM_212482		c.G3643A
c.G3643A
c.G3643A
c.G3643A
c.G3643A
c.G3643A
c.G3643A
c.G3643A
c.G3643A		p.G1215S
p.G1215S
p.G1215S
p.G1215S
p.G1215S
p.G1215S
p.G1215S
p.G1215S
p.G1215S		29.28.239E-6Neale2012 E
ZNF155     09C97629chr19:
44500603-44500603		CTexonicDe novosynonymous SNVNM_001260486
NM_001260487
NM_003445
NM_198089
NM_001260488		c.C594T
c.C594T
c.C594T
c.C594T
c.C627T		p.H198H
p.H198H
p.H198H
p.H198H
p.H209H		2.4860.005Neale2012 E
SCRIB     10C101745chr8:
144891120-144891120		GAexonicDe novononsynonymous SNVNM_015356
NM_182706		c.C1774T
c.C1774T		p.P592S
p.P592S		8.081-Neale2012 E
PLEC     09C98909chr8:
144995364-144995364		GAexonicDe novosynonymous SNVNM_201378
NM_201379
NM_201380
NM_201381
NM_201382
NM_201383
NM_201384
NM_000445		c.C8583T
c.C8559T
c.C9036T
c.C8529T
c.C8625T
c.C8637T
c.C8625T
c.C8706T		p.P2861P
p.P2853P
p.P3012P
p.P2843P
p.P2875P
p.P2879P
p.P2875P
p.P2902P		-4.0E-4Neale2012 E
ITGA5     10C104461chr12:
54793722-54793722		CAexonicDe novostopgainNM_002205c.G2800Tp.E934X43.0-Neale2012 E
PWWP2A     09C98493chr5:
159520099-159520099		GAexonicDe novononsynonymous SNVNM_001130864c.C1558Tp.P520S13.26-Neale2012 E
OBSL1     10C101480chr2:
220422963-220422963		CTexonicDe novononsynonymous SNVNM_001173431
NM_015311		c.G3445A
c.G3445A		p.G1149R
p.G1149R		20.99.307E-5Neale2012 E
SLC39A5     09C100237chr12:
56629024-56629024		CTexonicDe novononsynonymous SNVNM_001135195
NM_173596		c.C718T
c.C718T		p.R240C
p.R240C		13.071.777E-5Neale2012 E
STAT2     10C103326chr12:
56744934-56744934		GAexonicDe novononsynonymous SNVNM_005419
NM_198332		c.C982T
c.C970T		p.P328S
p.P324S		19.94-Neale2012 E
ZNF813     09C99754chr19:
53994750-53994750		ACexonicDe novononsynonymous SNVNM_001004301c.A1264Cp.K422Q0.007-Neale2012 E
SRGAP1     AU07204chr12:
64519821-64519821		CTexonicDe novosynonymous SNVNM_020762c.C2289Tp.S763S--Neale2012 E
ASB1     09C87038chr2:
239344638-239344638		CAexonicDe novononsynonymous SNVNM_001040445c.C478Ap.L160M18.169.335E-6Neale2012 E
ZFC3H1     09C98906chr12:
72004328-72004328		TCexonicDe novosynonymous SNVNM_144982c.A5850Gp.A1950A-8.325E-6Neale2012 E
SETD5     09C98906chr3:
9486949-9486949		GAexonicDe novononsynonymous SNVNM_001080517
NM_001292043		c.G1405A
c.G1111A		p.V469I
p.V371I		13.95-Neale2012 E
CACHD1     10C105879chr1:
65139072-65139072		TGexonicDe novononsynonymous SNVNM_001293274
NM_020925		c.T1764G
c.T2499G		p.F588L
p.F833L		13.51-Neale2012 E
ZNF311     10C104461chr6:
28963322-28963322		CTexonicDe novononsynonymous SNVNM_001010877c.G1457Ap.R486H17.482.0E-4Neale2012 E
PPP1R18     09C87038chr6:
30652620-30652620		GCexonicDe novosynonymous SNVNM_133471
NM_001134870		c.C1176G
c.C1176G		p.A392A
p.A392A		--Neale2012 E
CST9     09C96510Achr20:
23584346-23584346		AGexonicDe novononsynonymous SNVNM_001008693c.T281Cp.M94T14.29-Neale2012 E
LY6G6F     09C98975chr6:
31675849-31675849		GAexonicDe novononsynonymous SNVNM_001003693c.G584Ap.R195Q12.099.761E-5Neale2012 E
STXBP1     09C92671chr9:
130444788-130444788		CTexonicDe novononsynonymous SNVNM_001032221
NM_003165		c.C1651T
c.C1651T		p.R551C
p.R551C		34.0-Neale2012 E
CCDC18     10C102957chr1:
93667486-93667486		GAexonicDe novononsynonymous SNVNM_001306076
NM_206886		c.G736A
c.G736A		p.E246K
p.E246K		26.86.683E-5Neale2012 E
TMEM56     09C83024chr1:
95616924-95616924		AGexonicDe novosynonymous SNVNM_001199679
NM_001199691
NM_152487		c.A348G
c.A348G
c.A348G		p.K116K
p.K116K
p.K116K		--Neale2012 E
SMARCC1     10C104773chr3:
47702879-47702879		TCexonicDe novononsynonymous SNVNM_003074c.A2225Gp.Q742R19.31-Neale2012 E
VAV3     09C90753Achr1:
108138879-108138879		GCexonicDe novononsynonymous SNVNM_001079874
NM_006113		c.C625G
c.C2305G		p.P209A
p.P769A		13.52-Neale2012 E
PLXNB1     09C97129chr3:
48455355-48455356		CACexonicDe novoframeshift deletionNM_001130082
NM_002673		c.4334delT
c.4334delT		p.L1445fs
p.L1445fs		--Neale2012 E
STXBP3     09C95782chr1:
109321932-109321932		AGexonicDe novononsynonymous SNVNM_007269c.A709Gp.I237V19.21-Neale2012 E
ANKS1A     AU02304chr6:
34985466-34985466		CTexonicDe novononsynonymous SNVNM_015245c.C1640Tp.T547M10.524.989E-5Neale2012 E
OSER1     09C96618chr20:
42825855-42825857		TGATexonicDe novoframeshift deletionNM_016470c.714_715delp.S238fs--Neale2012 E
KCNS1     10C100480chr20:
43723695-43723695		CTexonicDe novononsynonymous SNVNM_002251c.G1397Ap.R466H19.683.295E-5Neale2012 E
ALOX12B     10C102470chr17:
7983087-7983087		CTexonicDe novosynonymous SNVNM_001139c.G927Ap.E309E--Neale2012 E
XPO5     09C84013chr6:
43492367-43492367		TCexonicDe novononsynonymous SNVNM_020750c.A3319Gp.R1107G23.3-Neale2012 E
APH1A     09C91621chr1:
150238957-150238957		GAexonicDe novostopgainNM_001243771
NM_001243772
NM_001077628
NM_016022		c.C538T
c.C499T
c.C709T
c.C709T		p.R180X
p.R167X
p.R237X
p.R237X		38.0-Neale2012 E
NISCH     09C98481chr3:
52492846-52492846		CGexonicDe novononsynonymous SNVNM_001276293
NM_001276294
NM_007184		c.C346G
c.C346G
c.C346G		p.H116D
p.H116D
p.H116D		8.95-Neale2012 E
ZNF451     09C90833chr6:
57017096-57017096		CTexonicDe novononsynonymous SNVNM_015555
NM_001031623		c.C2686T
c.C2830T		p.H896Y
p.H944Y		25.7-Neale2012 E
POGZ     10C102646chr1:
151379469-151379469		GGGTACexonicDe novoframeshift insertionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.2177_2178insGTAC
c.2303_2304insGTAC
c.2276_2277insGTAC
c.2435_2436insGTAC
c.2462_2463insGTAC		p.T726fs
p.T768fs
p.T759fs
p.T812fs
p.T821fs		--Neale2012 E
CADPS     09C97625chr3:
62543117-62543117		CTexonicDe novosynonymous SNVNM_003716
NM_183393
NM_183394		c.G1716A
c.G1716A
c.G1716A		p.L572L
p.L572L
p.L572L		--Neale2012 E
BRCA2     09C88971chr13:
32915264-32915264		GAexonicDe novononsynonymous SNVNM_000059c.G6772Ap.E2258K0.0118.268E-6Neale2012 E
ZNF292     09C98975chr6:
87925717-87925717		CTexonicDe novostopgainNM_015021c.C265Tp.R89X27.8-Neale2012 E
BRCA2     09C89530chr13:
32929306-32929306		GAexonicDe novononsynonymous SNVNM_000059c.G7316Ap.G2439E3.923-Neale2012 E
ST3GAL6     09C98975chr3:
98510684-98510684		GCsplicingDe novosplicing16.67-Neale2012 E
SLC6A4     10C105228chr17:
28544289-28544289		CGexonicDe novosynonymous SNVNM_001045c.G732Cp.G244G--Neale2012 E
KCNMA1     10C105879chr10:
78869948-78869948		ACexonicDe novononsynonymous SNVNM_001271518
NM_001014797
NM_001161352
NM_001161353
NM_001271519
NM_002247		c.T952G
c.T1114G
c.T1114G
c.T1114G
c.T1114G
c.T1114G		p.F318V
p.F372V
p.F372V
p.F372V
p.F372V
p.F372V		23.7-Neale2012 E
ADA2     09C91621chr22:
17662817-17662817		CTexonicDe novononsynonymous SNVNM_177405
NM_001282229
NM_001282225
NM_001282226
NM_001282227
NM_001282228		c.G612A
c.G975A
c.G1335A
c.G1335A
c.G1209A
c.G1209A		p.M204I
p.M325I
p.M445I
p.M445I
p.M403I
p.M403I		--Neale2012 E
MYCBP2     09C96982chr13:
77700568-77700568		AGexonicDe novononsynonymous SNVNM_015057c.T7769Cp.M2590T8.619-Neale2012 E
MMRN2     09C98975chr10:
88703271-88703271		CTexonicDe novononsynonymous SNVNM_024756c.G1270Ap.D424N16.22-Neale2012 E
KRTAP9-3     09C85238chr17:
39389177-39389177		AGexonicDe novononsynonymous SNVNM_031962c.A424Gp.T142A14.7-Neale2012 E
CD247     09C91621chr1:
167410000-167410000		TCexonicDe novosynonymous SNVNM_000734
NM_198053		c.A63G
c.A63G		p.A21A
p.A21A		--Neale2012 E
Source Variant Information

, -

Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
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.
Variant event count
Curation notesView
More

VariCarta Copyright © 2016-2023 Contact Us