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Results for "Michaelson2012"

Variant Events: 632

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
CCSER2     74-0265chr10:
86147840-86147840
CTintronicInherited--Michaelson2012 G
LIPK     74-0117chr10:
90492541-90492541
GAintronicDe novo--Michaelson2012 G
COL13A1     60-2027chr10:
71650267-71650267
CAintronicInherited--Michaelson2012 G
LRMDA     74-0115chr10:
77830946-77830946
CTintronicDe novo--Michaelson2012 G
C10orf76     63-449chr10:
103608373-103608373
CTintronicDe novo--Michaelson2012 G
LINC01435     74-0265chr10:
110060987-110060987
GAintergenicDe novo--Michaelson2012 G
CPEB3     74-0265chr10:
93859835-93859835
CTintronicInherited--Michaelson2012 G
ENTPD1-AS1     74-0688chr10:
97622263-97622263
TCncRNA_intronicDe novo--Michaelson2012 G
MIR5694     74-0355chr10:
122636302-122636302
AGncRNA_intronicDe novo--Michaelson2012 G
ACADSB     74-0688chr10:
124878684-124878684
GAintergenicDe novo--Michaelson2012 G
LINC01435     74-0265chr10:
110568348-110568348
CTintergenicDe novo--Michaelson2012 G
TIAL1     74-0355chr10:
121371957-121371957
TCintergenicDe novo--Michaelson2012 G
OR52A1     74-0115chr11:
5179891-5179891
AGintergenicDe novo--Michaelson2012 G
CCKBR     60-2027chr11:
6307196-6307196
CTintergenicDe novo--Michaelson2012 G
STK32C     63-343chr10:
134025921-134025921
ATintronicDe novo--Michaelson2012 G
MIR4686     63-343chr11:
2208095-2208095
CTintergenicInherited--Michaelson2012 G
TEAD1     74-0265chr11:
12819715-12819715
TGintronicDe novo--Michaelson2012 G
LOC102724957   63-343chr11:
15793508-15793508
GAintergenicDe novo--Michaelson2012 G
APBB1     74-0355chr11:
6422669-6422669
GAintronicDe novo-3.0E-4Michaelson2012 G
GALNT18     74-0355chr11:
11509604-11509604
TCintronicDe novo--Michaelson2012 G
LINC01499     63-343chr11:
42061120-42061120
CTintergenicDe novo--Michaelson2012 G
74-0115chr11:
54818469-54818469
AGintergenicDe novo--Michaelson2012 G
BBOX1-AS1     74-0115chr11:
27180975-27180975
AGncRNA_intronicDe novo--Michaelson2012 G
PAX6-AS1     74-0075chr11:
31936047-31936047
GAintergenicDe novo--Michaelson2012 G
OR5W2     74-0352chr11:
55693994-55693994
ATintergenicDe novo--Michaelson2012 G
MS4A5     74-0265chr11:
60213222-60213222
GCintronicDe novo--Michaelson2012 G
74-0115chr11:
54818502-54818502
AGintergenicDe novo--Michaelson2012 G
OR4A15     74-0115chr11:
55239514-55239514
CTintergenicDe novo--Michaelson2012 G
SHANK2     74-0115chr11:
71103740-71103740
ACintergenicDe novo--Michaelson2012 G
CLPB     74-0352chr11:
72165714-72165714
CTintergenicDe novo--Michaelson2012 G
CYB561A3     74-0355chr11:
61120863-61120863
CTintronicDe novo--Michaelson2012 G
CAPN1     74-0355chr11:
64958372-64958372
CTintronicInherited--Michaelson2012 G
ENDOD1     74-0115chr11:
94843166-94843166
CTintronicDe novo--Michaelson2012 G
LOC100129203   74-0075chr11:
95111231-95111231
GTintergenicInherited--Michaelson2012 G
TMEM135     63-449chr11:
87813204-87813204
CTintergenicDe novo--Michaelson2012 G
DISC1FP1     74-0355chr11:
91695897-91695897
TCintergenicDe novo--Michaelson2012 G
POU2F3     74-0352chr11:
120148900-120148900
CTintronicDe novo--Michaelson2012 G
POU2F3     63-343chr11:
120150578-120150578
AGintronicDe novo--Michaelson2012 G
74-0265chr11:
98744557-98744557
TCintergenicDe novo--Michaelson2012 G
LOC101928535    74-0075chr11:
106240320-106240320
CGintergenicDe novo--Michaelson2012 G
SNX19     74-0075chr11:
130753887-130753887
GAintronicDe novo--Michaelson2012 G
NTM-IT   74-0355chr11:
132158233-132158233
ACncRNA_exonicDe novo--Michaelson2012 G
FEZ1     63-449chr11:
125353019-125353019
AGintronicDe novo--Michaelson2012 G
KIRREL3     74-0075chr11:
126293122-126293122
AGdownstreamDe novo--Michaelson2012 G
GUCY2C     74-0265chr12:
14811277-14811277
AGintronicDe novo--Michaelson2012 G
PIK3C2G     74-0352chr12:
18510221-18510221
CTintronicDe novo--Michaelson2012 G
OPCML     74-0352chr11:
133255039-133255039
CTintronicDe novo--Michaelson2012 G
CLEC4C     74-0115chr12:
7913532-7913532
AGintergenicDe novo--Michaelson2012 G
ITPR2     74-0075chr12:
27007722-27007722
CTintergenicDe novo--Michaelson2012 G
CCDC91     63-449chr12:
28967361-28967361
GAintergenicInherited--Michaelson2012 G
PDE3A     74-0265chr12:
20809162-20809162
CAintronicDe novo--Michaelson2012 G
SOX5     74-0075chr12:
24573280-24573280
GAintronicDe novo--Michaelson2012 G
ZNF641     60-2027chr12:
48847757-48847757
TCintergenicDe novo--Michaelson2012 G
ADCY6     74-0355chr12:
49173603-49173603
CTintronicDe novo--Michaelson2012 G
ALG10     74-0117chr12:
34787157-34787157
GAintergenicDe novo--Michaelson2012 G
74-0117chr12:
38320670-38320670
CGintergenicDe novo--Michaelson2012 G
SLC16A7     74-0117chr12:
61329558-61329558
GAintergenicDe novo--Michaelson2012 G
CAND1     74-0688chr12:
67874041-67874041
CTintergenicDe novo--Michaelson2012 G
GRASP     63-343chr12:
52413975-52413975
ATintergenicDe novo--Michaelson2012 G
ATP23     60-2027chr12:
58565718-58565718
GTintergenicDe novo--Michaelson2012 G
SYT1     74-0355chr12:
79552075-79552075
CAintronicInherited--Michaelson2012 G
TMTC2     63-343chr12:
85184869-85184869
GAintergenicDe novo--Michaelson2012 G
CSRP2     74-0355chr12:
77345825-77345825
TGintergenicDe novo--Michaelson2012 G
E2F7     74-0265 Complex Event; expand row to view variants  De novo--Michaelson2012 G
Michaelson2012 G
LOC643339   74-0355chr12:
93657212-93657212
ACncRNA_intronicDe novo--Michaelson2012 G
TMPO     74-0117chr12:
98935929-98935929
ATintronicDe novo--Michaelson2012 G
LRRIQ1     74-0115chr12:
85605030-85605030
TCintronicDe novo--Michaelson2012 G
CLLU1     74-0352chr12:
93050835-93050835
CTintergenicDe novo--Michaelson2012 G
TMEM132C     63-343chr12:
128807886-128807886
CTintronicDe novo--Michaelson2012 G
TMEM132D     74-0355chr12:
129581774-129581774
CTintronicDe novo--Michaelson2012 G
TMEM132B     60-2027chr12:
126210830-126210830
GAintergenicDe novo--Michaelson2012 G
LINC00508   74-0352chr12:
128495381-128495381
TCintergenicDe novo--Michaelson2012 G
TPTE2     74-0117chr13:
20070302-20070302
GAintronicInherited--Michaelson2012 G
PAN3     74-0352chr13:
28816616-28816616
AGintronicDe novo--Michaelson2012 G
TMEM132D     63-449chr12:
129763346-129763346
CTintronicDe novo--Michaelson2012 G
74-0355chr13:
19268460-19268460
GAintergenicInherited--Michaelson2012 G
TNFSF11     74-0688chr13:
43174597-43174597
ATintronicDe novo--Michaelson2012 G
SIAH3     60-2027chr13:
46387345-46387345
GAintronicDe novo--Michaelson2012 G
LINC00437   74-0075chr13:
39203634-39203634
TCncRNA_intronicDe novo--Michaelson2012 G
NHLRC3     74-0115chr13:
39827232-39827232
GTintergenicDe novo--Michaelson2012 G
LINC00374     63-343chr13:
60108301-60108301
CAintergenicDe novo--Michaelson2012 G
ATXN8OS   60-2027chr13:
71205121-71205121
TCintergenicDe novo--Michaelson2012 G
RCBTB2     74-0115chr13:
49093194-49093194
AGintronicDe novo--Michaelson2012 G
DLEU2     74-0265chr13:
50585012-50585012
CGncRNA_intronicDe novo--Michaelson2012 G
LMO7DN     63-449chr13:
77317909-77317909
AGintergenicDe novo--Michaelson2012 G
LINC00564     74-0352chr13:
82415376-82415376
CTintergenicDe novo--Michaelson2012 G
DIS3     74-0355chr13:
73344238-73344238
GAintronicDe novo--Michaelson2012 G
PIBF1     74-0352chr13:
73429508-73429508
GCintronicDe novo--Michaelson2012 G
FAM155A     74-0265chr13:
108303700-108303700
CTintronicDe novo--Michaelson2012 G
EDDM3A     74-0117chr14:
21218842-21218842
CTintergenicDe novo--Michaelson2012 G
LINC00559     74-0355chr13:
90862385-90862385
TCintergenicDe novo--Michaelson2012 G
LINC00443     74-0352chr13:
107731350-107731350
CGintergenicDe novo--Michaelson2012 G
NPAS3     74-0117chr14:
34079789-34079789
ATintronicDe novo--Michaelson2012 G
EGLN3     74-0352chr14:
34518928-34518928
CTintergenicDe novo--Michaelson2012 G
AKAP6     74-0355chr14:
32758933-32758933
TCintergenicInherited--Michaelson2012 G
NPAS3     74-0265chr14:
33486058-33486058
CAintronicDe novo--Michaelson2012 G
LINC00648     60-2027chr14:
49229747-49229747
AGintergenicDe novo--Michaelson2012 G
RAD51B     74-0688chr14:
68661217-68661217
CTintronicDe novo--Michaelson2012 G
CLEC14A     74-0075chr14:
39019415-39019415
GTintergenicDe novo--Michaelson2012 G
FBXO33     60-2027chr14:
40267556-40267556
AGintergenicDe novo--Michaelson2012 G
DPF3     63-343chr14:
73307939-73307939
GCintronicDe novo--Michaelson2012 G
NUMB     74-0075chr14:
73928740-73928740
GAintergenicDe novo--Michaelson2012 G
PLEKHD1     74-0355chr14:
69965334-69965334
TCintronicUnknown--Michaelson2012 G
RGS6     63-343chr14:
72975844-72975844
GAintronicInherited--Michaelson2012 G
DIO2-AS1     74-0355chr14:
80914912-80914912
CTncRNA_intronicDe novo--Michaelson2012 G
63-343chr14:
86679030-86679030
GCintergenicDe novo--Michaelson2012 G
NUMB     74-0075chr14:
73930160-73930160
TAintergenicDe novo--Michaelson2012 G
NUMB     74-0075chr14:
73930295-73930295
GAintergenicDe novo--Michaelson2012 G
SERPINA1     60-2027chr14:
94867213-94867213
GCintergenicDe novo--Michaelson2012 G
SYNE3     74-0115chr14:
95954490-95954490
ACintergenicDe novo--Michaelson2012 G
FOXN3     74-0117chr14:
89853770-89853770
ACintronicDe novo--Michaelson2012 G
PSMC1     60-2027chr14:
90733678-90733678
TAintronicDe novo--Michaelson2012 G
PWRN3     74-0688chr15:
24730801-24730801
CAintergenicDe novo--Michaelson2012 G
GABRG3     74-0352chr15:
27388484-27388484
CTintronicDe novo--Michaelson2012 G
LINC01550     74-0688chr14:
98449324-98449324
GAintergenicDe novo--Michaelson2012 G
TECPR2     74-0265chr14:
102913784-102913784
CGintronicDe novo--Michaelson2012 G
SLC12A1     63-343chr15:
48560744-48560744
GAintronicDe novo--Michaelson2012 G
ADAM10     74-0117chr15:
58903343-58903343
AGintronicDe novo-8.386E-6Michaelson2012 G
MIR4510     74-0075chr15:
36837434-36837434
TAintergenicDe novo--Michaelson2012 G
CHP1     63-343chr15:
41535519-41535519
CGintronicDe novo--Michaelson2012 G
AGBL1     74-0075chr15:
88062116-88062116
GAintergenicDe novo--Michaelson2012 G
MRPS11     74-0355chr15:
89042293-89042293
CGintergenicDe novo--Michaelson2012 G
SNX1     74-0075chr15:
64435634-64435634
CGUTR3De novo--Michaelson2012 G
RPLP1     74-0075chr15:
69815593-69815593
CTintergenicDe novo--Michaelson2012 G
NR2F2     74-0075chr15:
97278617-97278617
CGintergenicDe novo--Michaelson2012 G
MEF2A     74-0355chr15:
100197932-100197932
ATintronicDe novo--Michaelson2012 G
MCTP2     74-0075chr15:
95135361-95135361
TCintergenicDe novo--Michaelson2012 G
LINC00924     63-343chr15:
96219836-96219836
AGintergenicDe novo--Michaelson2012 G
ZC3H7A     74-0117chr16:
11845395-11845395
AGintronicDe novo-8.551E-6Michaelson2012 G
SHISA9     74-0115chr16:
13219055-13219055
ACintronicDe novo--Michaelson2012 G
CERS3     74-0117chr15:
100981388-100981388
CTintronicUnknown--Michaelson2012 G
FAHD1     74-0688 Complex Event; expand row to view variants  De novo--Michaelson2012 G
Michaelson2012 G
CDR2     74-0355chr16:
22420926-22420926
CTintergenicDe novo--Michaelson2012 G
ZNF720     74-0352chr16:
31791008-31791008
AGintergenicDe novo--Michaelson2012 G
XYLT1     63-343chr16:
17245009-17245009
GAintronicInherited--Michaelson2012 G
DNAH3     74-0352chr16:
21135458-21135458
AGintronicUnknown--Michaelson2012 G
74-0115chr16:
52433188-52433188
TCintergenicDe novo--Michaelson2012 G
MIR4426     74-0117chr16:
61632763-61632763
CTintergenicDe novo--Michaelson2012 G
LINC02167     74-0352chr16:
35174655-35174655
GCintergenicDe novo--Michaelson2012 G
CNEP1R1     74-0117chr16:
50068229-50068229
CAintronicDe novo--Michaelson2012 G
PKD1L3     74-0115chr16:
71965114-71965114
GAintronicDe novo--Michaelson2012 G
WWOX     74-0355chr16:
79149665-79149665
ACintronicDe novo--Michaelson2012 G
CDH8     74-0075chr16:
63592659-63592659
TCintergenicDe novo--Michaelson2012 G
CTCF     63-449chr16:
67669454-67669454
CTintronicInherited--Michaelson2012 G
ARHGAP44     74-0352chr17:
12852468-12852468
ATexonicDe novosynonymous SNVNM_014859c.A873Tp.R291R--Michaelson2012 G
NCOR1     74-0117chr17:
15974374-15974374
CTintronicInherited--Michaelson2012 G
WWOX     74-0352chr16:
79622780-79622780
CTintergenicDe novo--Michaelson2012 G
DNAH2     63-343chr17:
7627295-7627295
AGintronicDe novo--Michaelson2012 G
FBXL20     74-0265chr17:
37460702-37460702
GAintronicDe novo--Michaelson2012 G
FZD2     74-0075chr17:
42659978-42659978
ACintergenicDe novo--Michaelson2012 G
ASIC2     60-2027chr17:
32292578-32292578
AGintronicDe novo--Michaelson2012 G
ACACA     74-0352chr17:
35457119-35457119
CTintronicDe novo--Michaelson2012 G
C17orf112   74-0352chr17:
51724648-51724648
CGintergenicDe novo--Michaelson2012 G
MMD     60-2027chr17:
53742909-53742909
ATintergenicDe novo--Michaelson2012 G
CDK5RAP3     74-0688chr17:
46071413-46071413
CTintergenicDe novo--Michaelson2012 G
CBX1     74-0355chr17:
46180534-46180534
ACintergenicDe novo--Michaelson2012 G
HSF5     74-0115chr17:
56513307-56513307
TGintronicDe novo--Michaelson2012 G
CEP112     63-343chr17:
64154717-64154717
GAintronicInherited--Michaelson2012 G
RNF126P1     74-0355chr17:
55157063-55157063
GAintergenicDe novo--Michaelson2012 G
MSI2     74-0075chr17:
55428701-55428701
GAintronicDe novo--Michaelson2012 G
B3GNTL1     74-0117chr17:
80975663-80975663
CTintronicUnknown--Michaelson2012 G
LOC102723376   74-0115chr18:
99313-99313
GAintergenicDe novo--Michaelson2012 G
ARSG     74-0115chr17:
66303922-66303922
CTintronicDe novo--Michaelson2012 G
RBFOX3     74-0688chr17:
77385960-77385960
CAintronicDe novo--Michaelson2012 G
RAB31     63-449chr18:
9795027-9795027
GAintronicDe novo--Michaelson2012 G
RAB31     60-2027chr18:
9822606-9822606
CTintronicDe novo--Michaelson2012 G
LINC00470   60-2027chr18:
2206884-2206884
CTintergenicInherited--Michaelson2012 G
TWSG1     74-0352chr18:
9340986-9340986
GAintronicDe novo--Michaelson2012 G
ANKRD20A5P   74-0115chr18:
14216252-14216252
ATncRNA_intronicDe novo--Michaelson2012 G
ROCK1     74-0265chr18:
18566957-18566957
TCexonicDe novononsynonymous SNVNM_005406c.A2258Gp.Q753R27.6-Michaelson2012 G
PIEZO2     60-2027chr18:
11197327-11197327
AGintergenicUnknown--Michaelson2012 G
SPIRE1     74-0688chr18:
12540400-12540400
GAintronicDe novo--Michaelson2012 G
CCDC178     60-2027chr18:
31100191-31100191
AGintergenicDe novo--Michaelson2012 G
NOL4     74-0688chr18:
31567744-31567744
AGintronicDe novo--Michaelson2012 G
TTC39C     74-0115chr18:
21635211-21635211
GAintronicDe novo--Michaelson2012 G
KLHL14     63-343chr18:
30414210-30414210
ATintergenicDe novo--Michaelson2012 G
MIR924HG     74-0352chr18:
36897150-36897150
ATncRNA_intronicDe novo--Michaelson2012 G
LINC01477     74-0688chr18:
38286249-38286249
TCintergenicDe novo--Michaelson2012 G
NOL4     63-343chr18:
31791702-31791702
AGintronicDe novo--Michaelson2012 G
CELF4     63-343chr18:
35094644-35094644
GAintronicDe novo--Michaelson2012 G
ZNF532     74-0075chr18:
56585011-56585011
CAintronicDe novo--Michaelson2012 G
TNFRSF11A     74-0117chr18:
60132110-60132110
TAintergenicDe novo--Michaelson2012 G
MIR4527     63-449chr18:
45088529-45088529
CTintergenicDe novo--Michaelson2012 G
TCF4     74-0688chr18:
52889988-52889988
CTUTR3De novo--Michaelson2012 G
LOC643542    63-449chr18:
65936701-65936701
TCintergenicDe novo--Michaelson2012 G
CCDC102B     60-2027chr18:
66635187-66635187
CGintronicDe novo--Michaelson2012 G
PHLPP1     74-0075chr18:
60716621-60716621
TAintergenicDe novo--Michaelson2012 G
LOC643542    74-0352chr18:
65688496-65688496
GAintergenicDe novo--Michaelson2012 G
ATP9B     60-2027chr18:
76882806-76882806
AGintronicDe novo--Michaelson2012 G
NFATC1     63-343chr18:
77191334-77191334
GAintronicDe novo--Michaelson2012 G
ZNF516     63-343chr18:
74197922-74197922
GCintronicDe novo--Michaelson2012 G
SALL3     60-2027chr18:
76760523-76760523
TCintergenicDe novo--Michaelson2012 G
CLEC4GP1   74-0352chr19:
7891520-7891520
GAintergenicDe novo--Michaelson2012 G
ZNF846     63-343chr19:
9909567-9909567
GAintergenicInherited--Michaelson2012 G
CTDP1     74-0355chr18:
77596765-77596765
CTintergenicDe novo--Michaelson2012 G
MUM1     74-0352chr19:
1359503-1359503
TCintronicDe novo--Michaelson2012 G
CEACAM3     74-0355chr19:
42318645-42318645
TCintergenicDe novo--Michaelson2012 G
SAE1     74-0355chr19:
47709839-47709839
GAintronicDe novo--Michaelson2012 G
PEPD     63-449chr19:
34109547-34109547
TCintergenicUnknown--Michaelson2012 G
FAM187B     74-0115chr19:
35728882-35728882
GCintergenicDe novo--Michaelson2012 G
ALKAL2     74-0352chr2:
295879-295879
AGintergenicDe novo--Michaelson2012 G
ALKAL2     74-0115chr2:
519482-519482
GTintergenicDe novo--Michaelson2012 G
ZNF541     74-0688chr19:
48059057-48059057
AGexonicDe novosynonymous SNVNM_001277075c.T57Cp.P19P--Michaelson2012 G
U2AF2     74-0688chr19:
56178954-56178954
CGintronicDe novo--Michaelson2012 G
FAM98A     74-0355chr2:
33907514-33907514
GTintergenicDe novo--Michaelson2012 G
LINC01320     63-449chr2:
36040834-36040834
CTintergenicDe novo--Michaelson2012 G
RNF144A     74-0265chr2:
7101172-7101172
AGintronicInherited--Michaelson2012 G
XDH     63-343chr2:
31735492-31735492
GTintergenicInherited--Michaelson2012 G
NRXN1     74-0352chr2:
52580360-52580360
ATintergenicDe novo--Michaelson2012 G
VRK2     74-0688chr2:
58231224-58231224
TAintronicDe novo--Michaelson2012 G
LOC728730    74-0115chr2:
39878592-39878592
CGintergenicDe novo--Michaelson2012 G
SLC8A1     63-343chr2:
41448454-41448454
CGintergenicDe novo--Michaelson2012 G
LINC01122     74-0117chr2:
59145179-59145179
AGncRNA_intronicDe novo--Michaelson2012 G
BCL11A     74-0075chr2:
60972232-60972232
CAintergenicDe novo--Michaelson2012 G
VRK2     74-0355chr2:
58288502-58288502
TAintronicDe novo--Michaelson2012 G
LINC01122     74-0688chr2:
58923309-58923309
TCncRNA_intronicDe novo--Michaelson2012 G
TACR1     74-0117chr2:
75459188-75459188
AGintergenicDe novo--Michaelson2012 G
EVA1A     74-0355chr2:
75732066-75732066
GAintronicDe novo--Michaelson2012 G
USP34     74-0265chr2:
61451538-61451538
TGintronicDe novo--Michaelson2012 G
LOC339807    74-0355chr2:
64844095-64844095
GAdownstreamDe novo--Michaelson2012 G
CTNNA2     74-0117chr2:
80847448-80847448
CTintronicDe novo--Michaelson2012 G
CTNNA2     74-0355chr2:
81033108-81033108
GAintergenicDe novo--Michaelson2012 G
LRRTM4     74-0265chr2:
77624541-77624541
TGintronicDe novo--Michaelson2012 G
LOC101927967   63-343chr2:
78074545-78074545
AGncRNA_intronicDe novo--Michaelson2012 G
EIF2AK3     74-0355chr2:
88936112-88936112
CAintergenicDe novo--Michaelson2012 G
AFF3     74-0075chr2:
100265101-100265101
AGintronicDe novo--Michaelson2012 G
63-449chr2:
82490491-82490491
CTintergenicDe novo--Michaelson2012 G
74-0075chr2:
83289033-83289033
CTintergenicDe novo--Michaelson2012 G
CNTNAP5     74-0115chr2:
125647238-125647238
TCintronicDe novo--Michaelson2012 G
MIR7853     63-343chr2:
133976130-133976130
ACncRNA_intronicDe novo--Michaelson2012 G
IL1R1     60-2027chr2:
102703517-102703517
CTintronicDe novo--Michaelson2012 G
TMEM182     60-2027chr2:
103451691-103451691
CTintergenicDe novo--Michaelson2012 G
SLC38A11     74-0265chr2:
165901252-165901252
GAintergenicInherited--Michaelson2012 G
ERICH2     74-0075chr2:
171654841-171654841
CTintronicDe novo--Michaelson2012 G
HNMT     74-0075chr2:
139007684-139007684
ACintergenicDe novo--Michaelson2012 G
ARHGAP15     63-343chr2:
144545126-144545126
TCintergenicDe novo--Michaelson2012 G
60-2027chr2:
182123576-182123576
ACncRNA_intronicDe novo--Michaelson2012 G
PPP1R1C     74-0352chr2:
182998847-182998847
AGintergenicDe novo--Michaelson2012 G
CDCA7     74-0115chr2:
174683396-174683396
GAintergenicDe novo--Michaelson2012 G
CCDC141     74-0355chr2:
179833588-179833588
AGintronicDe novo--Michaelson2012 G
PLCL1     74-0075chr2:
198733033-198733033
TCintronicDe novo--Michaelson2012 G
PLCL1     74-0352chr2:
198953608-198953608
AGexonicDe novosynonymous SNVNM_006226c.A2742Gp.L914L--Michaelson2012 G
MIR548AE1     63-449chr2:
185261627-185261627
GAintergenicInherited--Michaelson2012 G
NEMP2     63-343chr2:
191490360-191490360
AGintergenicDe novo--Michaelson2012 G
CPS1     63-449chr2:
211700047-211700047
TCintergenicDe novo--Michaelson2012 G
LOC100130451   74-0352chr2:
214140665-214140665
GAdownstreamDe novo--Michaelson2012 G
CREB1     74-0117chr2:
208205955-208205955
ACintergenicDe novo--Michaelson2012 G
PTH2R     74-0352chr2:
209892174-209892174
TCintergenicDe novo--Michaelson2012 G
PID1     74-0355chr2:
230134174-230134174
AGintronicDe novo--Michaelson2012 G
DNER     74-0355chr2:
230425407-230425407
TCintronicDe novo--Michaelson2012 G
Source Variant Information

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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
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