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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
0.4020.0162