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Results for "SDK1"
Variant Events: 215
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
SDK1
SP0019824
chr7:
4002288-4002288
G
C
splicing
splicing
21.0
-
Zhou2022
G
E
SDK1
SP0053163
chr7:
4089056-4089056
G
A
exonic
synonymous SNV
NM_152744
c.G2679A
p.P893P
-
3.298E-5
Zhou2022
G
E
SDK1
SSC02395
chr7:
3998632-3998632
G
A
exonic
De novo
nonsynonymous SNV
NM_152744
c.G1220A
p.G407E
0.371
-
Fu2022
E
Lim2017
E
Trost2022
G
SDK1
AU3053301
chr7:
3509106-3509106
T
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
7-0100-004
chr7:
4190409-4190409
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
2-1235-003
chr7:
3605546-3605546
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
1-0150-004
chr7:
3580200-3580200
G
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
2-1235-003
chr7:
4185819-4185819
C
A
intronic
De novo
-
-
Yuen2017
G
SDK1
2-1322-004
chr7:
4607907-4607907
G
T
intergenic
De novo
-
-
Yuen2017
G
SDK1
2-0304-004
chr7:
4068186-4068186
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
7-0059-003
chr7:
4649339-4649339
C
T
intergenic
De novo
-
-
Yuen2017
G
SDK1
1-0530-003
chr7:
4609020-4609020
C
T
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
SDK1
13515.p1
chr7:
3627830-3627830
C
T
intronic
De novo
-
-
Turner2016
G
SDK1
1-0534-006
chr7:
4096500-4096500
G
GACCATTCTGCTCCGGGTCCCGAC
intronic
De novo
-
-
Yuen2017
G
SDK1
12449.p1
chr7:
4338607-4338607
A
G
intergenic
De novo
-
-
Turner2016
G
SDK1
AU4067303
chr7:
4651492-4651492
A
G
intergenic
De novo
-
-
Yuen2017
G
SDK1
AU3874303
chr7:
3470425-3470425
C
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
14642.p1
chr7:
4423620-4423620
G
T
intergenic
De novo
-
-
Turner2016
G
SDK1
12449.p1
chr7:
4338614-4338614
T
C
intergenic
De novo
-
-
Turner2016
G
SDK1
12449.p1
chr7:
4338619-4338619
A
G
intergenic
De novo
-
-
Turner2016
G
SDK1
2-0298-003
chr7:
4119870-4119870
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
2-0208-003
chr7:
3761627-3761627
T
C
intronic
De novo
-
-
Yuen2017
G
SDK1
1-0142-005
chr7:
3647442-3647443
AC
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
AU2129303
chr7:
3626688-3626688
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
AU2129303
chr7:
4598354-4598354
G
C
intergenic
De novo
-
-
Yuen2017
G
SDK1
SP0047218
chr7:
3681669-3681669
C
G
exonic
De novo
nonsynonymous SNV
NM_152744
c.C645G
p.I215M
13.11
-
Fu2022
E
Trost2022
G
Zhou2022
G
E
SDK1
SP0098809
chr7:
4198087-4198087
C
G
exonic
De novo
nonsynonymous SNV
NM_001079653
NM_152744
c.C94G
c.C4633G
p.P32A
p.P1545A
23.1
-
Fu2022
E
SDK1
SP0060494
chr7:
4306506-4306506
G
T
UTR3
De novo
-
-
Fu2022
E
Trost2022
G
SDK1
SP0041224
chr7:
4185418-4185418
C
T
exonic
De novo
synonymous SNV
NM_152744
c.C4293T
p.G1431G
-
2.0E-4
Fu2022
E
Trost2022
G
Zhou2022
G
E
SDK1
SP0088632
chr7:
4171924-4171924
T
G
intronic
De novo
-
-
Fu2022
E
SDK1
SP0011905
chr7:
3341574-3341574
C
T
intronic
De novo
-
-
Fu2022
E
Trost2022
G
SDK1
SMHC01042s000
chr7:
4152946-4152946
G
T
exonic
De novo
nonsynonymous SNV
NM_152744
c.G3460T
p.V1154F
24.0
8.257E-6
Yuan2023
E
SDK1
AU4079302
chr7:
4311355-4311360
TGGGGG
TGGGG
intergenic
De novo
-
-
Yuen2017
G
SDK1
1-0559-004
chr7:
3486880-3486885
ATAACT
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
2-1213-003
chr7:
3790046-3790046
G
T
intronic
De novo
-
-
Yuen2017
G
SDK1
2-0299-003
chr7:
4169725-4169725
C
T
exonic
De novo
synonymous SNV
NM_152744
c.C4125T
p.D1375D
-
1.0E-4
Yuen2017
G
Zhou2022
G
E
SDK1
1-0559-004
chr7:
3562599-3562599
T
TGGC
intronic
De novo
-
-
Yuen2017
G
SDK1
1-0382-004
chr7:
4123783-4123783
C
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
AU4327303
chr7:
4085889-4085889
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
1-0215-006
chr7:
3504485-3504488
CAAT
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
AU076808
chr7:
4063890-4063890
G
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
1-0465-003
chr7:
4363185-4363185
A
G
intergenic
De novo
-
-
Yuen2017
G
SDK1
7-0095-003
chr7:
4041433-4041437
TTGTC
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
1-0402-003
chr7:
3965703-3965703
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
AU3637301
Complex Event; expand row to view variants
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
1-0121-003
chr7:
4141798-4141799
GC
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
AU2000305
chr7:
3927413-3927413
G
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
2-1430-003
chr7:
3716838-3716852
ATGTGTGTGTGTGTG
ATGTGTGTGTGTG
intronic
De novo
-
-
Yuen2017
G
SDK1
AU1987304
chr7:
3381161-3381161
C
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
SMHC01973s000
chr7:
4008997-4008997
C
T
exonic
De novo
nonsynonymous SNV
NM_152744
c.C1655T
p.T552I
17.68
-
Yuan2023
E
SDK1
AU061104
chr7:
3520146-3520146
G
A
intronic
De novo
-
-
Yuen2017
G
SDK1
1-0079-008
chr7:
3414529-3414529
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
AU4007301
chr7:
3938122-3938122
T
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
5-0114-003
chr7:
4278408-4278408
C
T
intronic
De novo
-
-
Yuen2017
G
SDK1
AU3984301
chr7:
4235463-4235463
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
1-0439-003
chr7:
4509677-4509677
T
G
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
SDK1
7-0068-003
chr7:
4391539-4391539
A
C
intergenic
De novo
-
-
Yuen2017
G
SDK1
2-1269-003
chr7:
3963280-3963280
G
T
intronic
De novo
-
-
Yuen2016
G
Yuen2017
G
SDK1
1-0377-003
chr7:
3851269-3851269
A
AT
intronic
De novo
-
-
Yuen2017
G
SDK1
2-1729-003
chr7:
4176236-4176236
G
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
1-0579-003
chr7:
3365651-3365651
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
5-0055-003
chr7:
4536925-4536925
T
TC
intergenic
De novo
-
-
Yuen2017
G
SDK1
1-0756-004
chr7:
3391666-3391666
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
7-0095-004
chr7:
4041433-4041437
TTGTC
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
2-1358-003
chr7:
4124179-4124179
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
A26
chr7:
3790175-3790175
G
C
intronic
De novo
-
-
Wu2018
G
SDK1
AU4243302
chr7:
4033790-4033790
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
1-0496-003
chr7:
4090024-4090024
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2016
G
Yuen2017
G
SDK1
AU3849302
chr7:
4550527-4550527
C
T
intergenic
De novo
-
-
Yuen2017
G
SDK1
AU4212303
chr7:
4713306-4713306
A
T
intergenic
De novo
-
-
Yuen2017
G
SDK1
AU4410302
chr7:
4640692-4640692
A
G
intergenic
De novo
-
-
Yuen2017
G
SDK1
Wang2023:746
chr7:
4008997-4008997
C
T
exonic
De novo
nonsynonymous SNV
NM_152744
c.C1655T
p.T552I
17.68
-
Wang2023
E
SDK1
4-0054-003
chr7:
3437331-3437331
T
G
intronic
De novo
-
-
Trost2022
G
SDK1
MSSNG00098-003
chr7:
3438868-3438868
T
C
intronic
De novo
-
-
Trost2022
G
SDK1
1-0272-004
chr7:
3562599-3562599
T
TGGC
intronic
De novo
-
-
Yuen2017
G
SDK1
1-1123-003
chr7:
3412126-3412126
G
T
intronic
De novo
-
-
Trost2022
G
SDK1
MSSNG00364-003
chr7:
3418080-3418080
T
C
intronic
De novo
-
-
Trost2022
G
SDK1
AU2288301
chr7:
3390705-3390705
A
C
intronic
De novo
-
-
Trost2022
G
SDK1
AU1742302
chr7:
3536838-3536838
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
7-0501-003
chr7:
3405523-3405523
T
A
intronic
De novo
-
-
Trost2022
G
SDK1
7-0055-003
chr7:
4247447-4247447
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
7-0219-003
chr7:
3776106-3776106
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
1-1036-003
chr7:
3368090-3368091
GC
G
intronic
De novo
-
-
Trost2022
G
SDK1
1-0209-003
chr7:
4667113-4667113
G
A
intergenic
De novo
-
-
Yuen2017
G
SDK1
MSSNG00006-004
chr7:
3510353-3510353
G
T
intronic
De novo
-
-
Trost2022
G
SDK1
7-0322-003
chr7:
3517922-3517922
T
C
intronic
De novo
-
-
Trost2022
G
SDK1
MSSNG00085-003
chr7:
3487627-3487627
C
A
intronic
De novo
-
-
Trost2022
G
SDK1
MSSNG00006-004
chr7:
3507041-3507041
T
C
intronic
De novo
-
-
Trost2022
G
SDK1
5-5021-003
chr7:
3476740-3476740
A
G
intronic
De novo
-
-
Trost2022
G
SDK1
MSSNG00045-003
chr7:
3478947-3478947
C
T
intronic
De novo
-
-
Trost2022
G
SDK1
3-0471-000
chr7:
3442460-3442460
G
A
intronic
De novo
-
-
Trost2022
G
SDK1
1-0944-003
chr7:
3476641-3476641
A
C
intronic
De novo
-
-
Trost2022
G
SDK1
MSSNG00254-004
chr7:
3622720-3622720
A
C
intronic
De novo
-
-
Trost2022
G
SDK1
REACH000089
chr7:
3648521-3648521
C
A
intronic
De novo
-
-
Trost2022
G
SDK1
2-1458-003
chr7:
3581492-3581492
T
A
intronic
De novo
-
-
Trost2022
G
SDK1
MSSNG00026-003
chr7:
3614260-3614260
C
T
intronic
De novo
-
-
Trost2022
G
SDK1
AU2458303
chr7:
4683457-4683457
T
G
intergenic
Maternal
-
-
Cirnigliaro2023
G
SDK1
1-0700-005A
chr7:
3550546-3550564
ATATTTTGATTTCCTTCCG
A
intronic
De novo
-
-
Trost2022
G
SDK1
AU2458302
chr7:
4683457-4683457
T
G
intergenic
Maternal
-
-
Cirnigliaro2023
G
SDK1
SJD_61.3
chr7:
3569757-3569757
A
G
intronic
De novo
-
-
Trost2022
G
SDK1
AU3905301
chr7:
4215467-4215467
G
A
splicing
Paternal
splicing
13.82
8.253E-6
Cirnigliaro2023
G
SDK1
V5T5W_01
Complex Event; expand row to view variants
De novo
-
-
Trost2022
G
Trost2022
G
SDK1
7-0413-003
chr7:
3548595-3548595
G
A
intronic
De novo
-
-
Trost2022
G
SDK1
2-0160-003
chr7:
3741709-3741714
TAGTGA
T
intronic
De novo
-
-
Trost2022
G
SDK1
2-0135-004
chr7:
3444811-3444811
A
AC
intronic
De novo
-
-
Yuen2017
G
SDK1
1025
chr7:
3756634-3756634
T
A
intronic
De novo
-
-
Trost2022
G
SDK1
2-1362-003
chr7:
3722121-3722126
TCGTAT
CTGCAA
intronic
De novo
-
-
Trost2022
G
SDK1
MSSNG00098-004
chr7:
3723557-3723557
C
A
intronic
De novo
-
-
Trost2022
G
SDK1
2-1426-003
chr7:
4702619-4702619
C
T
intergenic
De novo
-
-
Yuen2017
G
SDK1
7-0322-003
chr7:
3672837-3672837
A
G
intronic
De novo
-
-
Trost2022
G
SDK1
5-2015-003
chr7:
3683966-3683966
C
A
intronic
De novo
-
-
Trost2022
G
SDK1
4-0040-004
chr7:
3661991-3661991
T
C
intronic
De novo
-
-
Trost2022
G
SDK1
AU2461301
chr7:
3665458-3665458
A
C
intronic
De novo
-
-
Trost2022
G
SDK1
2-1283-003
chr7:
3393059-3393059
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
SJD_10.3
chr7:
3840305-3840305
G
A
intronic
De novo
-
-
Trost2022
G
SDK1
AU3175303
chr7:
3589149-3589149
G
T
intronic
De novo
-
-
Yuen2017
G
SDK1
AU023012
chr7:
3841213-3841213
G
A
intronic
De novo
-
-
Trost2022
G
SDK1
AU021204
chr7:
3619028-3619028
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
4-0062-003
chr7:
3829575-3829577
CAG
ACT
intronic
De novo
-
-
Trost2022
G
SDK1
MSSNG00033-005
chr7:
3833305-3833305
T
A
intronic
De novo
-
-
Trost2022
G
SDK1
3-0630-000
chr7:
3794910-3794910
A
T
intronic
De novo
-
-
Trost2022
G
SDK1
2-0244-003
chr7:
3953216-3953216
T
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
MSSNG00412-003
chr7:
3800494-3800494
T
G
intronic
De novo
-
-
Trost2022
G
SDK1
REACH000721
chr7:
3763585-3763585
G
T
intronic
De novo
-
-
Trost2022
G
SDK1
1-1189-003
chr7:
3793818-3793818
C
A
intronic
De novo
-
-
Trost2022
G
SDK1
1-0278-003A
chr7:
3900431-3900431
C
G
intronic
De novo
-
-
Trost2022
G
SDK1
1-1000-003
chr7:
4003930-4003930
C
T
intronic
De novo
-
-
Yuen2017
G
SDK1
2-1773-003
chr7:
3902617-3902617
C
T
intronic
De novo
-
-
Trost2022
G
SDK1
MSSNG00122-003
chr7:
3880178-3880178
C
T
intronic
De novo
-
-
Trost2022
G
SDK1
1-0158-003
chr7:
3358641-3358641
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
MSSNG00098-004
chr7:
3889198-3889198
G
C
intronic
De novo
-
-
Trost2022
G
SDK1
5-5146-004
chr7:
3871398-3871398
A
T
intronic
De novo
-
-
Trost2022
G
SDK1
MSSNG00395-003
chr7:
3877246-3877246
G
A
intronic
De novo
-
-
Trost2022
G
SDK1
2-1733-003
chr7:
3843831-3843834
TCTC
T
intronic
De novo
-
-
Trost2022
G
SDK1
1-0906-003
chr7:
3896736-3896736
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
AU2463301
chr7:
3869162-3869162
G
A
intronic
De novo
-
-
Trost2022
G
SDK1
4-0062-003
chr7:
3975414-3975415
GT
G
intronic
De novo
-
-
Trost2022
G
SDK1
3-0228-000
chr7:
3988713-3988713
A
G
intronic
De novo
-
-
Trost2022
G
SDK1
MSSNG00428-003
chr7:
3967480-3967480
G
C
intronic
De novo
-
-
Trost2022
G
SDK1
REACH000678
chr7:
3974430-3974430
C
T
intronic
De novo
-
-
Trost2022
G
SDK1
5-5159-003
chr7:
3947895-3947895
A
G
intronic
De novo
-
-
Trost2022
G
SDK1
7-0351-003
chr7:
3957172-3957172
G
A
intronic
De novo
-
-
Trost2022
G
SDK1
MSSNG00224-003
chr7:
3906539-3906539
G
A
intronic
De novo
-
-
Trost2022
G
SDK1
5-5046-006
chr7:
3917108-3917108
C
T
intronic
De novo
-
-
Trost2022
G
SDK1
AU3634301
chr7:
3542113-3542113
C
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
SP0061093
Complex Event; expand row to view variants
De novo
-
-
Trost2022
G
Trost2022
G
Trost2022
G
SDK1
SP0067090
Complex Event; expand row to view variants
De novo
-
-
Trost2022
G
Trost2022
G
SDK1
1-0957-003
chr7:
4038447-4038447
C
T
intronic
De novo
-
-
Trost2022
G
SDK1
MT_86.3
chr7:
4055761-4055761
G
A
intronic
De novo
-
-
Trost2022
G
SDK1
1-1158-003
chr7:
4027442-4027442
G
C
intronic
De novo
-
-
Trost2022
G
SDK1
AU076509
chr7:
4513952-4513952
C
G
intergenic
De novo
-
-
Yuen2017
G
SDK1
3-0044-000
chr7:
4034526-4034526
C
A
intronic
De novo
-
-
Trost2022
G
SDK1
AU076509
chr7:
4514394-4514394
T
G
intergenic
De novo
-
-
Yuen2017
G
SDK1
1-1000-003A
chr7:
4003930-4003930
C
T
intronic
De novo
-
-
Trost2022
G
SDK1
7-0024-003
chr7:
4717509-4717509
T
C
intergenic
De novo
-
-
Yuen2017
G
SDK1
MSSNG00257-005
chr7:
4025763-4025763
C
T
intronic
De novo
-
-
Trost2022
G
SDK1
AU025704
chr7:
3997003-3997003
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
SP0136921
Complex Event; expand row to view variants
De novo
-
-
Trost2022
G
Trost2022
G
SDK1
SP0061093
chr7:
4056748-4056748
A
C
intronic
De novo
-
-
Trost2022
G
SDK1
SP0143256
Complex Event; expand row to view variants
De novo
-
-
Trost2022
G
Trost2022
G
SDK1
SP0146418
Complex Event; expand row to view variants
De novo
-
-
Trost2022
G
Trost2022
G
Trost2022
G
SDK1
SP0140723
Complex Event; expand row to view variants
De novo
-
-
Trost2022
G
Trost2022
G
Trost2022
G
SDK1
SP0140738
Complex Event; expand row to view variants
De novo
-
-
Trost2022
G
Trost2022
G
Trost2022
G
SDK1
SP0088506
Complex Event; expand row to view variants
De novo
-
-
Trost2022
G
Trost2022
G
Trost2022
G
SDK1
SP0117039
Complex Event; expand row to view variants
De novo
-
-
Trost2022
G
Trost2022
G
Trost2022
G
SDK1
SP0146418
chr7:
4056748-4056748
A
C
intronic
De novo
-
-
Trost2022
G
SDK1
REACH000409
chr7:
4075062-4075062
T
G
intronic
De novo
-
-
Trost2022
G
SDK1
SP0140738
chr7:
4056748-4056748
A
C
intronic
De novo
-
-
Trost2022
G
SDK1
SP0143256
chr7:
4056748-4056748
A
C
intronic
De novo
-
-
Trost2022
G
SDK1
SP0136921
chr7:
4056748-4056748
A
C
intronic
De novo
-
-
Trost2022
G
SDK1
SP0140723
chr7:
4056748-4056748
A
C
intronic
De novo
-
-
Trost2022
G
SDK1
SP0067090
chr7:
4056748-4056748
A
C
intronic
De novo
-
-
Trost2022
G
SDK1
SP0088506
chr7:
4056748-4056748
A
C
intronic
De novo
-
-
Trost2022
G
SDK1
2-1546-003
chr7:
4123458-4123458
C
CTTTA
intronic
De novo
-
-
Trost2022
G
SDK1
4-0062-003
chr7:
4123462-4123462
C
CTTTA
intronic
De novo
-
-
Trost2022
G
SDK1
2-1398-003
chr7:
4123458-4123458
C
CCTTCTTTA
intronic
De novo
-
-
Trost2022
G
SDK1
1-0903-004
chr7:
4123458-4123458
C
CTTTA
intronic
De novo
-
-
Trost2022
G
SDK1
SP0242201
chr7:
4119221-4119221
G
A
intronic
De novo
-
-
Trost2022
G
SDK1
1-0401-003
chr7:
4123458-4123458
C
CCTTCTTTA
intronic
De novo
-
-
Trost2022
G
SDK1
3-0191-000
chr7:
4106789-4106789
T
G
intronic
De novo
-
-
Trost2022
G
SDK1
1-1191-003
chr7:
4111709-4111709
G
A
intronic
De novo
-
-
Trost2022
G
SDK1
AU4122301
chr7:
4219865-4219865
C
A
intronic
De novo
-
-
Trost2022
G
SDK1
1-0273-004
chr7:
4248012-4248012
G
A
intronic
De novo
-
-
Trost2022
G
SDK1
REACH000640
chr7:
4183599-4183599
G
A
intronic
De novo
-
-
Trost2022
G
SDK1
SSC08936
chr7:
4215360-4215360
C
T
intronic
De novo
-
5.77E-5
Trost2022
G
SDK1
MT_48.3
chr7:
4168083-4168083
A
T
intronic
De novo
-
-
Trost2022
G
SDK1
5-5024-003
chr7:
4174833-4174833
G
A
intronic
De novo
-
-
Trost2022
G
SDK1
2-1743-003A
chr7:
4147344-4147344
T
G
intronic
De novo
-
-
Trost2022
G
SDK1
MSSNG00098-004
chr7:
4156637-4156637
A
G
intronic
De novo
-
-
Trost2022
G
SDK1
1-1221-003
chr7:
4295918-4295918
G
C
intronic
De novo
-
-
Trost2022
G
SDK1
1-1034-003
chr7:
4304286-4304286
A
G
intronic
De novo
-
-
Trost2022
G
SDK1
1-0722-003
chr7:
4275731-4275731
C
A
intronic
De novo
-
-
Trost2022
G
SDK1
3-0016-000
chr7:
4286893-4286893
C
T
intronic
De novo
-
-
Trost2022
G
SDK1
4-0062-003
chr7:
4248604-4248606
TCT
CCG
intronic
De novo
-
-
Trost2022
G
SDK1
1-0669-003
chr7:
4258535-4258535
A
T
intronic
De novo
-
-
Trost2022
G
SDK1
2-1731-003
chr7:
3561032-3561032
T
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
11226.p1
chr7:
3998632-3998632
G
A
exonic
De novo
nonsynonymous SNV
NM_152744
c.G1220A
p.G407E
0.371
-
Iossifov2014
E
Kosmicki2017
E
Krupp2017
E
Satterstrom2020
E
Zhou2022
G
E
SDK1
2-1085-004
chr7:
4123426-4123426
T
C
intronic
De novo
-
-
Yuen2017
G
SDK1
1-0294-003
chr7:
3416898-3416898
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2016
G
Yuen2017
G
SDK1
1-0044-003
chr7:
4123470-4123470
T
TTTACTTC
intronic
De novo
-
-
Yuen2017
G
SDK1
2-1314-003
chr7:
4184578-4184578
A
C
intronic
De novo
-
-
Yuen2016
G
SDK1
1-0546-003
chr7:
4498294-4498294
G
T
intergenic
De novo
-
-
Yuen2017
G
SDK1
2-1283-004
chr7:
3393059-3393059
C
T
intronic
De novo
-
-
Yuen2017
G
SDK1
1-0455-003
chr7:
4123446-4123446
T
TA
intronic
De novo
-
-
Yuen2017
G
SDK1
1-0404-003
chr7:
4169746-4169746
C
T
intronic
De novo
-
4.503E-5
Trost2022
G
Yuen2017
G
SDK1
1-0278-003
chr7:
3900431-3900431
C
G
intronic
De novo
-
-
Yuen2016
G
SDK1
1-0677-003
chr7:
4589248-4589248
A
G
intergenic
De novo
-
-
Yuen2017
G
SDK1
3-0216-000
chr7:
4667377-4667377
C
G
intergenic
De novo
-
-
Yuen2017
G
SDK1
04C35995
chr7:
4002399-4002399
C
T
exonic
De novo
nonsynonymous SNV
NM_152744
c.C1345T
p.R449C
15.66
1.703E-5
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
SDK1
2-0202-004
chr7:
3427363-3427367
CCTGT
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
13632.p1
chr7:
4215360-4215360
C
T
intronic
De novo
-
5.77E-5
Satterstrom2020
E
SDK1
2-1120-003
chr7:
3766072-3766072
A
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
1-0065-004
chr7:
3562599-3562599
T
TGGC
intronic
De novo
-
-
Yuen2017
G
SDK1
1-0286-004
chr7:
3405755-3405761
CTCTAAT
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
SDK1
AU0786305
chr7:
4659031-4659035
GTCTC
GTCTCTC
intergenic
De novo
-
-
Yuen2017
G
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 notes
View
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