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Results for "Iossifov2014"

Variant Events: 3386

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
SCN2A     14525.p1chr2:
166152367-166152367		GAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G34A
c.G34A
c.G34A		p.D12N
p.D12N
p.D12N		13.34-Iossifov2014 E
SCN2A     14280.p1chr2:
166201311-166201311		CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C2809T
c.C2809T
c.C2809T		p.R937C
p.R937C
p.R937C		29.0-Iossifov2014 E
SCN2A     11892.p1chr2:
166201379-166201379		CAexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C2877A
c.C2877A
c.C2877A		p.C959X
p.C959X
p.C959X		42.0-Iossifov2014 E
SCN2A     11114.p1chr2:
166210819-166210819		GTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.G3037T
c.G3037T
c.G3037T		p.G1013X
p.G1013X
p.G1013X		40.0-Iossifov2014 E
SCN2A     13544.p1chr2:
166231378-166231378		TCexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.T4156C
c.T4156C
c.T4156C		p.C1386R
p.C1386R
p.C1386R		15.44-Iossifov2014 E
SCN2A     13642.p1chr2:
166234111-166234111		CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C4259T
c.C4259T
c.C4259T		p.T1420M
p.T1420M
p.T1420M		28.0-Iossifov2014 E
TRIM17     13586.p1chr1:
228596934-228596934		TTGexonicDe novoframeshift insertionNM_001024940
NM_001134855
NM_016102		c.821dupC
c.821dupC
c.821dupC		p.P274fs
p.P274fs
p.P274fs		-4.0E-4Iossifov2014 E
UBR3     12161.p1 Complex Event; expand row to view variants  De novosynonymous SNV, frameshift deletionNM_172070
NM_172070		c.A813C
c.813_814del		p.T271T
p.T271fs		--Iossifov2014 E
Iossifov2014 E
ARHGAP30     13628.p1chr1:
161023096-161023099		ACTCAexonicDe novononframeshift deletionNM_001287602
NM_001287600
NM_001025598
NM_181720		c.82_84del
c.169_171del
c.613_615del
c.613_615del		p.28_28del
p.57_57del
p.205_205del
p.205_205del		--Iossifov2014 E
C8orf31     13012.p1chr8:
144126055-144126056		TCTintronicDe novo--Iossifov2014 E
PCDHA13     12773.p1chr5:
140263886-140263890		CTTCGCexonicDe novoframeshift deletionNM_018904
NM_031865		c.2034_2037del
c.2034_2037del		p.A678fs
p.A678fs		--Iossifov2014 E
PCOLCE     13018.p1chr7:
100201679-100201680		CTCexonicDe novoframeshift deletionNM_002593c.303delTp.S101fs--Iossifov2014 E
TSPYL5     13195.p1chr8:
98289514-98289517		CCTTCexonicDe novononframeshift deletionNM_033512c.556_558delp.186_186del--Iossifov2014 E
PARP6     13038.p1chr15:
72535063-72535068		CTTCATCintronicDe novo--Iossifov2014 E
PTGER3     12501.p1chr1:
71439935-71439935		CCGintronicDe novo--Iossifov2014 E
USP15     12521.p1chr12:
62775296-62775300		CTGAGCexonicDe novoframeshift deletionNM_006313
NM_001252078		c.855_858del
c.942_945del		p.T285fs
p.T314fs		--Iossifov2014 E
ASAH2     11715.p1chr10:
52005130-52005130		TTGexonicDe novoframeshift insertionNM_001143974
NM_019893		c.211dupC
c.211dupC		p.Q71fs
p.Q71fs		--Iossifov2014 E
MORC3     14310.p1chr21:
37744772-37744774		CAGCexonicDe novoframeshift deletionNM_015358c.2610_2611delp.T870fs--Iossifov2014 E
KDM6B     12683.p1chr17:
7749921-7749922		CGCexonicDe novoframeshift deletionNM_001080424c.575delGp.R192fs--Iossifov2014 E
BRSK2     13415.p1chr11:
1466811-1466814		GAGAGexonicDe novononframeshift deletionNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957		c.989_991del
c.989_991del
c.1127_1129del
c.809_811del
c.989_991del		p.330_331del
p.330_331del
p.376_377del
p.270_271del
p.330_331del		--Iossifov2014 E
CDC23     13809.p1chr5:
137534408-137534410		CTGCexonicDe novoframeshift deletionNM_004661c.716_717delp.T239fs--Iossifov2014 E
PDCD1     11707.p1chr2:
242795103-242795104		TGTexonicDe novoframeshift deletionNM_005018c.105delCp.P35fs--Iossifov2014 E
PCYT1A     13922.p1chr3:
195966607-195966611		CTAGACsplicingDe novosplicing-8.299E-6Iossifov2014 E
TROVE2     12826.p1chr1:
193045125-193045129		ATTAGAexonicDe novoframeshift deletionNM_001042369
NM_001042370
NM_001173524
NM_001173525
NM_004600		c.757_760del
c.757_760del
c.757_760del
c.757_760del
c.757_760del		p.L253fs
p.L253fs
p.L253fs
p.L253fs
p.L253fs		--Iossifov2014 E
DVL3     11242.p1chr3:
183887912-183887912		GGTexonicDe novoframeshift insertionNM_004423c.1618dupTp.Q539fs--Iossifov2014 E
DLL1     12653.p1chr6:
170593075-170593075		CCAexonicDe novoframeshift insertionNM_005618c.1291dupTp.C431fs--Iossifov2014 E
TBR1     13796.p1chr2:
162275481-162275481		AACexonicDe novoframeshift insertionNM_006593c.1049dupCp.T350fs--Iossifov2014 E
TBR1     11480.p1chr2:
162273322-162273323		ACAexonicDe novoframeshift deletionNM_006593c.402delCp.H134fs--Iossifov2014 E
ARID1B     13447.p1chr6:
157527664-157527668		CTGTTCexonicDe novoframeshift deletionNM_017519
NM_020732		c.5351_5354del
c.5390_5393del		p.L1784fs
p.L1797fs		--Iossifov2014 E
L1CAM     13739.p1chrX:
153135038-153135040		TCATexonicDe novoframeshift deletionNM_001143963
NM_000425
NM_024003
NM_001278116		c.1187_1188del
c.1202_1203del
c.1202_1203del
c.1202_1203del		p.V396fs
p.V401fs
p.V401fs
p.V401fs		--Iossifov2014 E
POGZ     13398.p1chr1:
151377903-151377903		TTCGTCATCAexonicDe novoframeshift insertionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.3322_3323insTGATGACG
c.3448_3449insTGATGACG
c.3421_3422insTGATGACG
c.3580_3581insTGATGACG
c.3607_3608insTGATGACG		p.E1108fs
p.E1150fs
p.E1141fs
p.E1194fs
p.E1203fs		--Iossifov2014 E
GIMAP8     13096.p1chr7:
150164231-150164232		GAGexonicDe novoframeshift deletionNM_175571c.446delAp.E149fs--Iossifov2014 E
MBD5     12346.p1chr2:
149225965-149225967		GTCGexonicDe novoframeshift deletionNM_018328c.454_455delp.S152fs--Iossifov2014 E
PHACTR2     11336.p1chr6:
144033170-144033173		GCTTGexonicDe novononframeshift deletionNM_001100164
NM_001100165
NM_001100166
NM_014721		c.65_67del
c.65_67del
c.32_34del
c.32_34del		p.22_23del
p.22_23del
p.11_12del
p.11_12del		--Iossifov2014 E
MSL2     12948.p1chr3:
135871025-135871029		TCAGATexonicDe novoframeshift deletionNM_001145417
NM_018133		c.472_475del
c.694_697del		p.S158fs
p.S232fs		--Iossifov2014 E
BUB3     13187.p1chr10:
124923291-124923292		GCGintronicDe novo--Iossifov2014 E
MFRP     13168.p1chr11:
119214624-119214625		CTCexonicDe novoframeshift deletionNM_031433c.1025delAp.Q342fs--Iossifov2014 E
CTTNBP2     13070.p1chr7:
117423007-117423009		TCATexonicDe novoframeshift deletionNM_033427c.2279_2280delp.V760fs--Iossifov2014 E
ACACB     13585.p1chr12:
109577549-109577549		AAGexonicDe novoframeshift insertionNM_001093c.340dupGp.P113fs--Iossifov2014 E
KMT2E     14299.p1chr7:
104702706-104702707		ACAexonicDe novostopgainNM_018682
NM_182931		c.168delC
c.168delC		p.Y56X
p.Y56X		--Iossifov2014 E
PHF2     12323.p1chr9:
96439929-96439930		ATAexonicDe novoframeshift deletionNM_005392c.3263delTp.I1088fs--Iossifov2014 E
CHD2     13618.p1chr15:
93524060-93524064		TAAAGTexonicDe novoframeshift deletionNM_001271c.2893_2896delp.K965fs--Iossifov2014 E
ANKRD11     12507.p1chr16:
89350771-89350775		CTTTGCexonicDe novoframeshift deletionNM_001256183
NM_013275
NM_001256182		c.2175_2178del
c.2175_2178del
c.2175_2178del		p.N725fs
p.N725fs
p.N725fs		--Iossifov2014 E
GRM5     12529.p1chr11:
88300812-88300815		ATCTAexonicDe novononframeshift deletionNM_001143831
NM_000842		c.2036_2038del
c.2036_2038del		p.679_680del
p.679_680del		--Iossifov2014 E
MTHFS     13590.p1chr15:
80137553-80137553		TTAexonicDe novostoplossNM_001199758
NM_006441
NM_001199760		c.439dupT
c.610dupT
c.538dupT		p.X147delinsL
p.X204delinsL
p.X180delinsL		--Iossifov2014 E
SNW1     11892.p1chr14:
78227470-78227479		TCTTCTTCCGTUTR5De novo--Iossifov2014 E
RIMS1     13497.p1chr6:
73102488-73102488		CCAexonicDe novoframeshift insertionNM_001168411
NM_001168408
NM_001168409
NM_001168410
NM_001168407
NM_014989		c.176dupA
c.1970dupA
c.1799dupA
c.1997dupA
c.2555dupA
c.4595dupA		p.Q59fs
p.Q657fs
p.Q600fs
p.Q666fs
p.Q852fs
p.Q1532fs		--Iossifov2014 E
RIMS1     13162.p1chr6:
72889391-72889391		TTAexonicDe novoframeshift insertionNM_014989c.586dupAp.D195fs--Iossifov2014 E
KCNMB4     14108.p1chr12:
70824293-70824296		CATGCexonicDe novononframeshift deletionNM_014505c.494_496delp.165_166del--Iossifov2014 E
ZFYVE26     13176.p1chr14:
68272014-68272015		GCGexonicDe novoframeshift deletionNM_015346c.1190delGp.G397fs--Iossifov2014 E
PHF3     14133.p1chr6:
64413433-64413435		CCGCexonicDe novoframeshift deletionNM_015153
NM_001290259		c.3240_3241del
c.2976_2977del		p.A1080fs
p.A992fs		--Iossifov2014 E
DST     13612.p1chr6:
56393643-56393647		GGTTTGexonicDe novoframeshift deletionNM_015548
NM_183380
NM_001144770
NM_001144769		c.9803_9806del
c.10781_10784del
c.10901_10904del
c.11315_11318del		p.Q3268fs
p.Q3594fs
p.Q3634fs
p.Q3772fs		--Iossifov2014 E
CNOT3     12444.p1chr19:
54656675-54656677		CTGCexonicDe novoframeshift deletionNM_014516c.1977_1978delp.T659fs--Iossifov2014 E
CSTF2T     13439.p1chr10:
53458249-53458249		TTAexonicDe novoframeshift insertionNM_015235c.1060dupTp.Y354fs--Iossifov2014 E
SCP2     11712.p1chr1:
53416506-53416508		CTGCexonicDe novoframeshift deletionNM_001193599
NM_001193617
NM_002979		c.208_209del
c.37_38del
c.280_281del		p.C70fs
p.C13fs
p.C94fs		--Iossifov2014 E
PHF7     12383.p1chr3:
52454424-52454425		GCGexonicDe novoframeshift deletionNM_001278221
NM_016483		c.387delC
c.387delC		p.C129fs
p.C129fs		--Iossifov2014 E
ADNP     12130.p1chr20:
49510027-49510029		CTTCexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.1222_1223del
c.1222_1223del
c.1222_1223del
c.1222_1223del		p.K408fs
p.K408fs
p.K408fs
p.K408fs		--Iossifov2014 E
SPAG9     14165.p1chr17:
49072429-49072434		GATCTAGexonicDe novoframeshift deletionNM_001251971
NM_003971
NM_001130527
NM_001130528		c.1739_1743del
c.2168_2172del
c.2180_2184del
c.2210_2214del		p.L580fs
p.L723fs
p.L727fs
p.L737fs		--Iossifov2014 E
LMTK3     13092.p1chr19:
49004780-49004780		CCAGGTCAGexonicDe novostopgainNM_001080434c.920_921insCTGACCTp.L307_T308delinsLX--Iossifov2014 E
DIP2A     13012.p1chr21:
47958429-47958429		AACTGGTCTexonicDe novoframeshift insertionNM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891		c.1706_1707insCTGGTCT
c.1823_1824insCTGGTCT
c.1835_1836insCTGGTCT
c.1835_1836insCTGGTCT
c.1835_1836insCTGGTCT
c.1835_1836insCTGGTCT		p.H569fs
p.H608fs
p.H612fs
p.H612fs
p.H612fs
p.H612fs		--Iossifov2014 E
ATP10D     13616.p1chr4:
47571000-47571000		TTGexonicDe novoframeshift insertionNM_020453c.3001dupGp.T1000fs--Iossifov2014 E
SETD2     12565.p1chr3:
47098932-47098933		ATAexonicDe novoframeshift deletionNM_014159c.6341delAp.N2114fs--Iossifov2014 E
SLC25A39     12939.p1chr17:
42399123-42399125		TCATexonicDe novoframeshift deletionNM_001143780
NM_016016		c.335_336del
c.311_312del		p.V112fs
p.V104fs		--Iossifov2014 E
HIVEP3     11940.p1chr1:
42048715-42048715		CCGexonicDe novoframeshift insertionNM_001127714
NM_024503		c.1753dupC
c.1753dupC		p.R585fs
p.R585fs		--Iossifov2014 E
PRKAA1     13073.p1chr5:
40775591-40775591		CCTGAexonicDe novononframeshift insertionNM_006251
NM_206907		c.283_284insTCA
c.283_284insTCA		p.S95delinsIS
p.S95delinsIS		--Iossifov2014 E
TNRC6B     12673.p1chr22:
40661586-40661590		AAGAGAexonicDe novoframeshift deletionNM_001162501
NM_015088		c.1353_1356del
c.1353_1356del		p.K451fs
p.K451fs		--Iossifov2014 E
PLCG1     13515.p1chr20:
39791805-39791805		GGTintronicDe novo--Iossifov2014 E
DYRK1A     13552.p1chr21:
38877833-38877834		GCGexonicDe novoframeshift deletionNM_001396
NM_130436
NM_130438
NM_101395		c.1488delC
c.1461delC
c.1488delC
c.1488delC		p.S496fs
p.S487fs
p.S496fs
p.S496fs		--Iossifov2014 E
DYRK1A     12099.p1chr21:
38845116-38845118		CATCexonicDe novoframeshift deletionNM_001396
NM_130436
NM_130438
NM_101395		c.142_143del
c.142_143del
c.142_143del
c.142_143del		p.I48fs
p.I48fs
p.I48fs
p.I48fs		--Iossifov2014 E
BRF2     13618.p1chr8:
37702145-37702147		CAGCexonicDe novoframeshift deletionNM_018310c.1121_1122delp.P374fs-6.595E-5Iossifov2014 E
ELMO1     11316.p1chr7:
37355576-37355576		CCAintronicDe novo-8.332E-6Iossifov2014 E
PAX5     12858.p1chr9:
37015070-37015071		AGAexonicDe novoframeshift deletionNM_001280551
NM_001280556
NM_001280547
NM_001280548
NM_001280549
NM_001280550
NM_001280552
NM_001280553
NM_001280554
NM_016734		c.9delC
c.9delC
c.333delC
c.333delC
c.333delC
c.333delC
c.333delC
c.333delC
c.333delC
c.333delC		p.A3fs
p.A3fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs		--Iossifov2014 E
VCP     13646.p1chr9:
35060455-35060460		TAGAACTexonicDe novoframeshift deletionNM_007126c.1545_1549delp.L515fs--Iossifov2014 E
SYNGAP1     13073.p1chr6:
33408650-33408652		CTTCexonicDe novoframeshift deletionNM_006772c.1822_1823delp.F608fs--Iossifov2014 E
HECTD1     12787.p1chr14:
31641107-31641110		AATGAexonicDe novononframeshift deletionNM_015382c.1289_1291delp.430_431del--Iossifov2014 E
NFKBIL1     11808.p1chr6:
31525439-31525439		CCTGexonicDe novoframeshift insertionNM_001144961
NM_001144962
NM_001144963
NM_005007		c.369_370insTG
c.300_301insTG
c.300_301insTG
c.369_370insTG		p.R123fs
p.R100fs
p.R100fs
p.R123fs		--Iossifov2014 E
SPATA13         12652.p1chr13:
24797447-24797448		GCGexonicDe novoframeshift deletionNM_001166271
NM_001286792		c.381delC
c.567delC		p.S127fs
p.S189fs		--Iossifov2014 E
PRMT5-AS1     13307.p1chr14:
23392075-23392076		TGTncRNA_intronicDe novo--Iossifov2014 E
CHD8     12752.p1chr14:
21861376-21861378		ACTAexonicDe novoframeshift deletionNM_001170629
NM_020920		c.6355_6356del
c.5518_5519del		p.S2119fs
p.S1840fs		--Iossifov2014 E
STAM     14147.p1chr10:
17738824-17738825		CTCexonicDe novoframeshift deletionNM_003473c.780delTp.P260fs--Iossifov2014 E
BRD4     12733.p1chr19:
15376362-15376365		CAGGCexonicDe novononframeshift deletionNM_014299
NM_058243		c.649_651del
c.649_651del		p.217_217del
p.217_217del		-8.238E-6Iossifov2014 E
DNAH5     11610.p1chr5:
13923403-13923404		CACexonicDe novoframeshift deletionNM_001369c.423delTp.P141fs--Iossifov2014 E
GALNT18     13548.p1chr11:
11314689-11314690		TGTexonicDe novoframeshift deletionNM_198516c.1563delCp.P521fs--Iossifov2014 E
MYH10     13000.p1chr17:
8424204-8424205		GAGexonicDe novoframeshift deletionNM_005964
NM_001256095
NM_001256012		c.2171delT
c.2198delT
c.2264delT		p.F724fs
p.F733fs
p.F755fs		--Iossifov2014 E
MEGF6     14075.p1chr1:
3519049-3519050		ACAexonicDe novoframeshift deletionNM_001409c.246delGp.W82fs--Iossifov2014 E
DIP2C     12705.p1chr10:
428608-428608		GGCexonicDe novoframeshift insertionNM_014974c.1969dupGp.A657fs--Iossifov2014 E
EFR3A     11379.p1chr8:
132982744-132982744		TCexonicDe novononsynonymous SNVNM_015137c.T1013Cp.F338S26.4-Iossifov2014 E
CASK     11379.p1chrX:
41524649-41524649		CTexonicDe novononsynonymous SNVNM_001126054
NM_001126055
NM_003688		c.G589A
c.G589A
c.G589A		p.G197R
p.G197R
p.G197R		32.0-Iossifov2014 E
ADNP     13545.p1chr20:
49509094-49509094		GGTexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.2156dupA
c.2156dupA
c.2156dupA
c.2156dupA		p.Y719_E720delinsX
p.Y719_E720delinsX
p.Y719_E720delinsX
p.Y719_E720delinsX		--Iossifov2014 E
BCL11A     13183.p1chr2:
60689253-60689253		AAGexonicDe novoframeshift insertionNM_018014
NM_022893		c.793dupC
c.793dupC		p.L265fs
p.L265fs		-2.0E-4Iossifov2014 E
ATP12A     13578.p1chr13:
25280525-25280531		CCAACTACexonicDe novononframeshift deletionNM_001185085
NM_001676		c.2112_2117del
c.2094_2099del		p.704_706del
p.698_700del		--Iossifov2014 E
EFCAB5     13590.p1chr17:
28400678-28400679		GTGexonicDe novoframeshift deletionNM_001145053c.2542delTp.F848fs--Iossifov2014 E
ENSA     12438.p1chr1:
150601997-150601998		AGAUTR5De novo--Iossifov2014 E
FLG     13471.p1chr1:
152286919-152286921		CCTCexonicDe novoframeshift deletionNM_002016c.441_442delp.T147fs-8.242E-6Iossifov2014 E
GDPD4     12952.p1chr11:
76928311-76928311		AAATCTUTR3De novo-7.0E-4Iossifov2014 E
GNPTG     12252.p1 Complex Event; expand row to view variants  De novo--Iossifov2014 E
Iossifov2014 E
MED13L     12969.p1chr12:
116418553-116418553		AACsplicingDe novosplicing--Iossifov2014 E
KMT2E     12952.p1chr7:
104748100-104748101		TCTexonicDe novoframeshift deletionNM_018682
NM_182931		c.3197delC
c.3197delC		p.S1066fs
p.S1066fs		--Iossifov2014 E
OTUD7A     12628.p1 Complex Event; expand row to view variants  De novononframeshift deletionNM_130901
NM_130901		c.1466_1474del
c.1474_1482del		p.489_492del
p.492_494del		-2.214E-5Iossifov2014 E
Iossifov2014 E
TUBGCP4     13537.p1chr15:
43694048-43694052		TGTAATsplicingDe novosplicing--Iossifov2014 E
UBN2     12950.p1chr7:
138968839-138968843		CCTCTCexonicDe novoframeshift deletionNM_173569c.3189_3192delp.P1063fs--Iossifov2014 E
ZNF175     12937.p1chr19:
52085149-52085150		ACAintronicDe novo--Iossifov2014 E
ZWILCH     12859.p1chr15:
66813380-66813382		CTTCintronicDe novo-8.259E-6Iossifov2014 E
SND1     11078.p1chr7:
127631105-127631105		GAexonicDe novononsynonymous SNVNM_014390c.G1775Ap.R592Q35.02.806E-5Iossifov2014 E
COLEC12     11078.p1chr18:
321720-321720		CAexonicDe novononsynonymous SNVNM_130386c.G2151Tp.W717C19.89-Iossifov2014 E
SV2C     11078.p1chr5:
75469979-75469979		GTintronicDe novo--Iossifov2014 E
C9orf78     11078.p1chr9:
132591824-132591824		TCintronicDe novo-8.348E-6Iossifov2014 E
POLR3D     11818.p1chr8:
22108171-22108171		CGUTR3De novo--Iossifov2014 E
KRBA1     11818.p1chr7:
149419954-149419954		GAexonicDe novounknown15.173.338E-5Iossifov2014 E
PM20D1     12055.p1chr1:
205797834-205797834		AGexonicDe novononsynonymous SNVNM_152491c.T1423Cp.Y475H14.02-Iossifov2014 E
ITGA3     12055.p1chr17:
48145447-48145447		CTexonicDe novosynonymous SNVNM_002204c.C442Tp.L148L--Iossifov2014 E
ZNF860     12055.p1chr3:
32030783-32030783		TCexonicDe novononsynonymous SNVNM_001137674c.T212Cp.M71T0.856-Iossifov2014 E
PLD5     12055.p1chr1:
242383342-242383342		TCexonicDe novononsynonymous SNVNM_001195812
NM_001195811
NM_152666		c.A59G
c.A497G
c.A683G		p.K20R
p.K166R
p.K228R		11.14-Iossifov2014 E
BEST3     12076.p1chr12:
70087547-70087547		GTexonicDe novononsynonymous SNVNM_001282613
NM_001282615
NM_001282616
NM_001282614
NM_032735		c.C70A
c.C70A
c.C70A
c.C388A
c.C388A		p.R24S
p.R24S
p.R24S
p.R130S
p.R130S		23.2-Iossifov2014 E
NCKAP1     12764.p1chr2:
183791570-183791570		CAexonicDe novostopgainNM_013436
NM_205842		c.G3244T
c.G3262T		p.E1082X
p.E1088X		48.0-Iossifov2014 E
CFAP74     12221.p1chr1:
1886352-1886352		CTintronicDe novo--Iossifov2014 E
EPHX2     12243.p1chr8:
27362614-27362614		CTexonicDe novononsynonymous SNVNM_001256483
NM_001256482
NM_001256484
NM_001979		c.C290T
c.C329T
c.C329T
c.C488T		p.P97L
p.P110L
p.P110L
p.P163L		12.92-Iossifov2014 E
ADGRF3     12252.p1chr2:
26536713-26536713		CTexonicDe novosynonymous SNVNM_153835
NM_001145169
NM_001145168		c.G594A
c.G984A
c.G1191A		p.P198P
p.P328P
p.P397P		-8.256E-6Iossifov2014 E
PIK3R2       12252.p1chr19:
18273859-18273859		GAexonicDe novononsynonymous SNVNM_005027c.G1192Ap.V398I17.914.132E-5Iossifov2014 E
ACTN4     12252.p1chr19:
39214685-39214685		AGexonicDe novononsynonymous SNVNM_004924c.A1660Gp.M554V10.52-Iossifov2014 E
LOC654841    12313.p1chr2:
228112254-228112254		AGncRNA_intronicDe novo--Iossifov2014 E
ARHGEF33     12321.p1chr2:
39148582-39148582		GTintronicDe novo--Iossifov2014 E
TTN     12323.p1chr2:
179447820-179447820		GTexonicDe novononsynonymous SNVNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550		c.C38515A
c.C38890A
c.C39091A
c.C58006A
c.C60787A
c.C65710A		p.L12839I
p.L12964I
p.L13031I
p.L19336I
p.L20263I
p.L21904I		13.75-Iossifov2014 E
PAFAH1B2     12438.p1chr11:
117034592-117034592		CGsplicing;exonicDe novononsynonymous SNVNM_001309431
NM_001184746
NM_001184747
NM_002572		c.C251G
c.C395G
c.C395G
c.C395G		p.A84G
p.A132G
p.A132G
p.A132G		27.6-Iossifov2014 E
DRAM2     12360.p1chr1:
111663323-111663323		AGintronicDe novo--Iossifov2014 E
MPO     12360.p1chr17:
56356401-56356401		ACexonicDe novononsynonymous SNVNM_000250c.T853Gp.C285G25.2-Iossifov2014 E
EXOC6     12363.p1chr10:
94659341-94659341		TCintronicDe novo-8.578E-6Iossifov2014 E
CAPS     12394.p1chr19:
5915243-5915243		GAexonicDe novosynonymous SNVNM_004058
NM_080590		c.G738A
c.G657A		p.A246A
p.A219A		-2.511E-5Iossifov2014 E
TRPV5     12396.p1chr7:
142609791-142609791		CTexonicDe novononsynonymous SNVNM_019841c.G1645Ap.V549M14.742.471E-5Iossifov2014 E
KMT5B     12864.p1chr11:
67938481-67938481		CTsplicingDe novosplicing16.07-Iossifov2014 E
HRH2     12420.p1chr5:
175110636-175110636		CTexonicDe novononsynonymous SNVNM_022304
NM_001131055		c.C400T
c.C400T		p.R134W
p.R134W		17.52-Iossifov2014 E
GOLGA4     12420.p1chr3:
37369172-37369172		TCexonicDe novononsynonymous SNVNM_002078
NM_001172713		c.T5795C
c.T5861C		p.L1932S
p.L1954S		15.83-Iossifov2014 E
TRIM6     12493.p1chr11:
5632063-5632063		CTexonicDe novononsynonymous SNVNM_001198645
NM_001198644
NM_001003818
NM_058166		c.C433T
c.C433T
c.C1042T
c.C958T		p.R145W
p.R145W
p.R348W
p.R320W		12.78.237E-6Iossifov2014 E
ACRBP     12426.p1chr12:
6752713-6752713		CTexonicDe novononsynonymous SNVNM_032489c.G1069Ap.G357R14.6-Iossifov2014 E
SH3TC2     12497.p1chr5:
148422396-148422396		GAexonicDe novosynonymous SNVNM_024577c.C390Tp.Y130Y-4.119E-5Iossifov2014 E
ERMAP     12498.p1chr1:
43305911-43305911		CTintronicDe novo--Iossifov2014 E
ZNF214     12449.p1chr11:
7021423-7021423		GAexonicDe novosynonymous SNVNM_013249c.C1491Tp.P497P--Iossifov2014 E
HSPA4     12449.p1chr5:
132403139-132403139		GAexonicDe novononsynonymous SNVNM_002154c.G196Ap.G66R28.3-Iossifov2014 E
FREM3     12449.p1chr4:
144619732-144619732		AGexonicDe novosynonymous SNVNM_001168235c.T2097Cp.D699D--Iossifov2014 E
CNPY2     12462.p1chr12:
56704761-56704761		TGexonicDe novononsynonymous SNVNM_014255c.A486Cp.K162N15.03-Iossifov2014 E
HIST1H4E     12462.p1chr6:
26204935-26204935		GAexonicDe novosynonymous SNVNM_003545c.G63Ap.K21K-2.472E-5Iossifov2014 E
KIRREL2     12462.p1chr19:
36350434-36350434		ATexonicDe novononsynonymous SNVNM_199179
NM_032123
NM_199180		c.A424T
c.A574T
c.A574T		p.T142S
p.T192S
p.T192S		10.2-Iossifov2014 E
HNRNPUL1     12462.p1chr19:
41800478-41800478		CTexonicDe novononsynonymous SNVNM_001301016
NM_007040
NM_144732		c.C1138T
c.C1405T
c.C1105T		p.R380W
p.R469W
p.R369W		22.7-Iossifov2014 E
TRIP12     12867.p1chr2:
230701696-230701696		GAexonicDe novostopgainNM_001284216
NM_001284215
NM_004238
NM_001284214		c.C103T
c.C1012T
c.C1012T
c.C1138T		p.R35X
p.R338X
p.R338X
p.R380X		38.0-Iossifov2014 E
LRMP     12463.p1chr12:
25257411-25257411		GCintronicDe novo--Iossifov2014 E
GCN1     12467.p1chr12:
120575778-120575778		CTexonicDe novononsynonymous SNVNM_006836c.G6320Ap.R2107H21.74.0E-4Iossifov2014 E
CPA4     12498.p1chr7:
129938587-129938587		GTexonicDe novononsynonymous SNVNM_001163446
NM_016352		c.G70T
c.G70T		p.D24Y
p.D24Y		17.8-Iossifov2014 E
MYO9B     12501.p1chr19:
17318044-17318044		AGexonicDe novononsynonymous SNVNM_001130065
NM_004145		c.A5615G
c.A5615G		p.K1872R
p.K1872R		15.78-Iossifov2014 E
CATSPER3     12497.p1chr5:
134346043-134346043		CTintronicDe novo-8.243E-5Iossifov2014 E
WDFY4     12497.p1chr10:
49982706-49982706		GAexonicDe novosynonymous SNVNM_020945c.G2757Ap.P919P0.385-Iossifov2014 E
NFIA     13670.p1chr1:
61553905-61553905		CTexonicDe novostopgainNM_001134673
NM_001145511
NM_005595
NM_001145512		c.C112T
c.C88T
c.C112T
c.C247T		p.R38X
p.R30X
p.R38X
p.R83X		40.0-Iossifov2014 E
DCAF11     12501.p1chr14:
24589008-24589008		GAexonicDe novononsynonymous SNVNM_001163484
NM_025230
NM_181357		c.G995A
c.G995A
c.G917A		p.C332Y
p.C332Y
p.C306Y		29.5-Iossifov2014 E
GALNT9     12626.p1chr12:
132688118-132688118		GAexonicDe novononsynonymous SNVNM_021808
NM_001122636		c.C97T
c.C1195T		p.R33C
p.R399C		17.941.664E-5Iossifov2014 E
PTPRN2     12510.p1chr7:
158109533-158109533		CTexonicDe novosynonymous SNVNM_130842
NM_001308268
NM_002847
NM_130843		c.G204A
c.G324A
c.G255A
c.G255A		p.A68A
p.A108A
p.A85A
p.A85A		-7.118E-5Iossifov2014 E
CLCN7     12515.p1chr16:
1510886-1510886		GTexonicDe novononsynonymous SNVNM_001114331
NM_001287		c.C343A
c.C415A		p.L115I
p.L139I		24.3-Iossifov2014 E
G3BP2     12523.p1chr4:
76580350-76580350		AGexonicDe novononsynonymous SNVNM_012297
NM_203504
NM_203505		c.T626C
c.T626C
c.T626C		p.L209P
p.L209P
p.L209P		10.36-Iossifov2014 E
PLEKHA8     12523.p1chr7:
30101537-30101537		AGexonicDe novononsynonymous SNVNM_001197026
NM_001197027
NM_032639		c.A1123G
c.A1123G
c.A1123G		p.N375D
p.N375D
p.N375D		7.626-Iossifov2014 E
EP400     12548.p1chr12:
132516666-132516666		GAexonicDe novononsynonymous SNVNM_015409c.G5923Ap.G1975R14.27-Iossifov2014 E
ADGRB3     12550.p1chr6:
70034815-70034815		TAexonicDe novononsynonymous SNVNM_001704c.T2866Ap.F956I35.0-Iossifov2014 E
BTBD11     12550.p1chr12:
108035955-108035955		CTintronicDe novo--Iossifov2014 E
ADNP2     12550.p1chr18:
77895204-77895204		GAexonicDe novosynonymous SNVNM_014913c.G1908Ap.P636P-0.001Iossifov2014 E
ZNF337     12550.p1chr20:
25656070-25656070		GAexonicDe novosynonymous SNVNM_001290261
NM_015655		c.C1854T
c.C1854T		p.H618H
p.H618H		--Iossifov2014 E
SNX5     12563.p1chr20:
17928186-17928186		GAexonicDe novononsynonymous SNVNM_001282454
NM_014426
NM_152227		c.C707T
c.C1022T
c.C1022T		p.A236V
p.A341V
p.A341V		14.59-Iossifov2014 E
GABRB3     12573.p1chr15:
26828534-26828534		CTexonicDe novononsynonymous SNVNM_001191320
NM_001191321
NM_000814
NM_021912
NM_001278631		c.G234A
c.G276A
c.G489A
c.G489A
c.G234A		p.M78I
p.M92I
p.M163I
p.M163I
p.M78I		17.36-Iossifov2014 E
TMEM41A     12573.p1chr3:
185209431-185209431		AGexonicDe novononsynonymous SNVNM_080652c.T689Cp.M230T15.01-Iossifov2014 E
ELOVL1     12579.p1chr1:
43830302-43830302		CTexonicDe novononsynonymous SNVNM_001256401
NM_001256402
NM_001256399
NM_022821		c.G311A
c.G149A
c.G392A
c.G392A		p.R104Q
p.R50Q
p.R131Q
p.R131Q		25.3-Iossifov2014 E
CFAP46     12579.p1chr10:
134743800-134743800		AGintronicDe novo--Iossifov2014 E
COL26A1     12582.p1chr7:
101091005-101091005		CTexonicDe novounknown20.7-Iossifov2014 E
SLC26A6     12588.p1chr3:
48670523-48670523		GAintronicDe novo11.48-Iossifov2014 E
ARFGEF3     12735.p1chr6:
138615277-138615277		TCintronicDe novo--Iossifov2014 E
PPRC1     12605.p1chr10:
103908608-103908608		CTexonicDe novononsynonymous SNVNM_001288727
NM_001288728
NM_015062		c.C3860T
c.C4286T
c.C4652T		p.P1287L
p.P1429L
p.P1551L		19.5-Iossifov2014 E
LAMB3     12605.p1chr1:
209823359-209823359		ACexonicDe novononsynonymous SNVNM_001017402
NM_000228
NM_001127641		c.T133G
c.T133G
c.T133G		p.S45A
p.S45A
p.S45A		22.7-Iossifov2014 E
DGKG     12605.p1chr3:
185993461-185993461		GTintronicDe novo--Iossifov2014 E
NEK4     12618.p1chr3:
52771641-52771641		CTexonicDe novosynonymous SNVNM_001193533
NM_003157		c.G2127A
c.G2394A		p.V709V
p.V798V		--Iossifov2014 E
CACNA1D     12620.p1chr3:
53707152-53707152		GAexonicDe novononsynonymous SNVNM_001128839
NM_001128840		c.G1219A
c.G1219A		p.G407R
p.G407R		20.8-Iossifov2014 E
ADAMTSL1     12620.p1chr9:
18622342-18622342		TCexonicDe novosynonymous SNVNM_001040272
NM_052866		c.T576C
c.T576C		p.Y192Y
p.Y192Y		--Iossifov2014 E
AGAP2     12624.p1chr12:
58129165-58129165		GAexonicDe novononsynonymous SNVNM_001122772
NM_014770		c.C1214T
c.C206T		p.P405L
p.P69L		18.69-Iossifov2014 E
AGAP2     12624.p1chr12:
58131129-58131129		GCexonicDe novononsynonymous SNVNM_001122772c.C901Gp.P301A3.738-Iossifov2014 E
POLN     12626.p1chr4:
2129967-2129967		GAintronicDe novo--Iossifov2014 E
FCGBP     12759.p1chr19:
40408653-40408653		CTexonicDe novononsynonymous SNVNM_003890c.G4186Ap.D1396N7.9742.471E-5Iossifov2014 E
TNNI3     12631.p1chr19:
55668031-55668031		GAintronicDe novo--Iossifov2014 E
RHOT2     12637.p1chr16:
719572-719572		TCexonicDe novononsynonymous SNVNM_138769c.T242Cp.V81A15.85-Iossifov2014 E
RNPEPL1     12637.p1chr2:
241517061-241517061		GAexonicDe novononsynonymous SNVNM_018226c.G1930Ap.G644S29.21.727E-5Iossifov2014 E
SEC24D     12638.p1chr4:
119738546-119738546		GTexonicDe novosynonymous SNVNM_014822c.C270Ap.V90V--Iossifov2014 E
DDB1     12642.p1chr11:
61067685-61067685		CTexonicDe novononsynonymous SNVNM_001923c.G3346Ap.D1116N19.15-Iossifov2014 E
KIRREL3     12644.p1chr11:
126343313-126343313		CTexonicDe novononsynonymous SNVNM_001161707
NM_001301097
NM_032531		c.G482A
c.G482A
c.G482A		p.R161H
p.R161H
p.R161H		24.94.394E-5Iossifov2014 E
FAM91A1     12221.p1chr8:
124787443-124787443		CTexonicDe novostopgainNM_144963c.C214Tp.R72X31.0-Iossifov2014 E
PAOX     12645.p1chr10:
135203136-135203136		GAexonicDe novononsynonymous SNVNM_152911c.G1277Ap.R426H15.681.679E-5Iossifov2014 E
ARHGAP21     12645.p1chr10:
24896811-24896811		AGexonicDe novononsynonymous SNVNM_020824c.T2444Cp.I815T13.0-Iossifov2014 E
LRRC31     12645.p1chr3:
169579555-169579555		TAexonicDe novononsynonymous SNVNM_001277127
NM_001277128
NM_024727		c.A222T
c.A222T
c.A222T		p.K74N
p.K74N
p.K74N		9.167-Iossifov2014 E
SWAP70     12652.p1chr11:
9770711-9770711		ATexonicDe novononsynonymous SNVNM_001297714
NM_015055		c.A1458T
c.A1632T		p.L486F
p.L544F		17.78-Iossifov2014 E
CDC34     12652.p1chr19:
536266-536266		CTexonicDe novosynonymous SNVNM_004359c.C288Tp.I96I-4.061E-5Iossifov2014 E
LRP2     12409.p1chr2:
170042308-170042308		GAexonicDe novostopgainNM_004525c.C9550Tp.R3184X53.0-Iossifov2014 E
ABCA13     12653.p1chr7:
48467428-48467428		GCexonicDe novononsynonymous SNVNM_152701c.G12525Cp.E4175D10.97-Iossifov2014 E
EIF4A1     12655.p1chr17:
7481018-7481018		CTexonicDe novosynonymous SNVNM_001204510
NM_001416		c.C900T
c.C900T		p.S300S
p.S300S		-1.0E-4Iossifov2014 E
EIF4A1     12655.p1chr17:
7481011-7481011		CTexonicDe novononsynonymous SNVNM_001204510
NM_001416		c.C893T
c.C893T		p.T298I
p.T298I		12.38-Iossifov2014 E
FAM177B     12655.p1chr1:
222920400-222920400		GAexonicDe novononsynonymous SNVNM_207468c.G218Ap.R73Q10.522.472E-5Iossifov2014 E
UNC80     12463.p1chr2:
210745771-210745771		CTexonicDe novostopgainNM_032504
NM_182587		c.C4069T
c.C4054T		p.R1357X
p.R1352X		44.0-Iossifov2014 E
SF1     12673.p1chr11:
64532910-64532910		TCexonicDe novononsynonymous SNVNM_201997
NM_201995		c.A1667G
c.A1868G		p.Q556R
p.Q623R		13.82-Iossifov2014 E
PTPRM     12686.p1chr18:
8143719-8143719		GAexonicDe novononsynonymous SNVNM_001105244
NM_002845		c.G2242A
c.G2242A		p.A748T
p.A748T		35.08.237E-6Iossifov2014 E
ADCY5     12688.p1chr3:
123049782-123049782		CTexonicDe novononsynonymous SNVNM_001199642
NM_183357		c.G550A
c.G1600A		p.A184T
p.A534T		37.0-Iossifov2014 E
PLXNB1     12689.p1chr3:
48457121-48457121		CAexonicDe novononsynonymous SNVNM_001130082
NM_002673		c.G3665T
c.G3665T		p.R1222L
p.R1222L		8.546-Iossifov2014 E
PDE4B     12691.p1chr1:
66833455-66833455		GAexonicDe novosynonymous SNVNM_001037339
NM_001297442
NM_001037340
NM_001297440
NM_001297441
NM_001037341
NM_002600		c.G945A
c.G762A
c.G1416A
c.G1185A
c.G1236A
c.G1461A
c.G1461A		p.L315L
p.L254L
p.L472L
p.L395L
p.L412L
p.L487L
p.L487L		-8.248E-6Iossifov2014 E
FLNC     12697.p1chr7:
128490012-128490012		CTintronicDe novo-4.0E-4Iossifov2014 E
IFITM2     12697.p1chr11:
308354-308354		TCexonicDe novosynonymous SNVNM_006435c.T162Cp.P54P-0.0532Iossifov2014 E
LSS     12704.p1chr21:
47628255-47628255		GAintronicDe novo-0.0011Iossifov2014 E
PNISR     12708.p1chr6:
99848937-99848937		GAexonicDe novononsynonymous SNVNM_015491
NM_032870		c.C1897T
c.C1897T		p.R633C
p.R633C		17.448.242E-6Iossifov2014 E
MAPRE1     12716.p1chr20:
31549114-31549114		CTintergenicDe novo--Iossifov2014 E
TPR     12719.p1chr1:
186305701-186305701		TCexonicDe novosynonymous SNVNM_003292c.A4632Gp.Q1544Q--Iossifov2014 E
APOC4-APOC2   12720.p1chr19:
45445522-45445522		GAncRNA_exonicDe novo-2.0E-4Iossifov2014 E
MROH7     12792.p1chr1:
55167767-55167767		GAexonicDe novononsynonymous SNVNM_001291332
NM_001039464		c.G1844A
c.G3290A		p.R615Q
p.R1097Q		18.329.317E-6Iossifov2014 E
MTMR6     12723.p1chr13:
25823559-25823559		AGexonicDe novosynonymous SNVNM_004685c.T1677Cp.P559P--Iossifov2014 E
MIR589     12723.p1chr7:
5535544-5535544		CGncRNA_exonicDe novo--Iossifov2014 E
GLRA2     12724.p1chrX:
14548195-14548195		GCexonicDe novononsynonymous SNVNM_001118886
NM_002063
NM_001118885		c.G16C
c.G16C
c.G16C		p.V6L
p.V6L
p.V6L		13.54-Iossifov2014 E
ZMAT5     12727.p1chr22:
30144473-30144473		GAexonicDe novononsynonymous SNVNM_001003692
NM_019103		c.C61T
c.C61T		p.R21C
p.R21C		20.98.243E-6Iossifov2014 E
RANBP3     12727.p1chr19:
5957913-5957913		CTintronicDe novo-5.798E-5Iossifov2014 E
PRSS55     12727.p1chr8:
10388838-10388838		CTexonicDe novosynonymous SNVNM_001197020
NM_198464		c.C381T
c.C381T		p.N127N
p.N127N		-9.132E-5Iossifov2014 E
LDLR     12733.p1chr19:
11233938-11233938		CTexonicDe novosynonymous SNVNM_001195800
NM_001195803
NM_001195799
NM_000527
NM_001195798		c.C1725T
c.C1695T
c.C2106T
c.C2229T
c.C2229T		p.T575T
p.T565T
p.T702T
p.T743T
p.T743T		--Iossifov2014 E
CYP4F12     12826.p1chr19:
15791068-15791068		ACexonicDe novononsynonymous SNVNM_023944c.A358Cp.K120Q14.06-Iossifov2014 E
MFSD12     12739.p1chr19:
3546431-3546431		GAintronicDe novo--Iossifov2014 E
PRPF4B     12758.p1chr6:
4049347-4049347		TCintronicDe novo--Iossifov2014 E
RDH8     12864.p1chr19:
10132408-10132408		CTexonicDe novononsynonymous SNVNM_015725c.C979Tp.R327W15.77-Iossifov2014 E
ITPR1     12759.p1chr3:
4699938-4699938		GAexonicDe novononsynonymous SNVNM_001168272
NM_002222
NM_001099952		c.G1082A
c.G1082A
c.G1127A		p.R361H
p.R361H
p.R376H		18.91-Iossifov2014 E
CSPP1     12759.p1chr8:
68074158-68074158		CTintronicDe novo--Iossifov2014 E
DCC     12764.p1chr18:
50848414-50848414		TCintronicDe novo-9.897E-5Iossifov2014 E
NRXN1     12501.p1chr2:
50724605-50724605		ATexonicDe novostopgainNM_004801
NM_001135659		c.T2745A
c.T2865A		p.Y915X
p.Y955X		49.0-Iossifov2014 E
RABL6     12773.p1chr9:
139726740-139726740		GAexonicDe novononsynonymous SNVNM_001173988
NM_001173989
NM_024718		c.G626A
c.G623A
c.G623A		p.R209H
p.R208H
p.R208H		13.138.294E-5Iossifov2014 E
DHX9     12773.p1chr1:
182852665-182852665		GAexonicDe novononsynonymous SNVNM_001357c.G3155Ap.R1052Q33.0-Iossifov2014 E
CAMSAP1     12778.p1chr9:
138774816-138774816		CTexonicDe novononsynonymous SNVNM_015447c.G269Ap.R90H28.3-Iossifov2014 E
RELN     13012.p1chr7:
103180706-103180706		GAexonicDe novononsynonymous SNVNM_005045
NM_173054		c.C6868T
c.C6868T		p.R2290C
p.R2290C		26.3-Iossifov2014 E
MUC5B     12779.p1chr11:
1273699-1273699		CTexonicDe novononsynonymous SNVNM_002458c.C14990Tp.P4997L6.0987.135E-5Iossifov2014 E
MUC2   12782.p1chr11:
1093105-1093105		CGexonicDe novononsynonymous SNVNM_002457c.C4924Gp.P1642A4.06-Iossifov2014 E
PTGES3L     12784.p1chr17:
41122338-41122338		TCexonicDe novononsynonymous SNVNM_001142653
NM_001142654
NM_001136042
NM_001261430
NM_025267		c.A430G
c.A415G
c.A529G
c.A529G
c.A346G		p.K144E
p.K139E
p.K177E
p.K177E
p.K116E		19.22-Iossifov2014 E
SLC47A2     12784.p1chr17:
19584847-19584847		AGintronicDe novo--Iossifov2014 E
PPIP5K2     12785.p1chr5:
102486980-102486980		GCexonicDe novononsynonymous SNVNM_015216
NM_001276277		c.G930C
c.G930C		p.L310F
p.L310F		16.74-Iossifov2014 E
SPANXC     12787.p1chrX:
140785678-140785678		GCexonicDe novononsynonymous SNVNM_022661
NM_032417		c.C238G
c.C238G		p.L80V
p.L80V		0.4020.0162Iossifov2014 E
BIRC6     12792.p1chr2:
32707616-32707616		CTexonicDe novosynonymous SNVNM_016252c.C7662Tp.N2554N--Iossifov2014 E
OR5M9     12792.p1chr11:
56230267-56230267		TCexonicDe novononsynonymous SNVNM_001004743c.A611Gp.N204S6.974