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Results for "Wang2023"

Variant Events: 708

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
PLXNA4     Wang2023:212chr7:
131866330-131866330
AGexonicDe novononsynonymous SNVNM_020911c.T3302Cp.L1101P21.0-Wang2023 E
KIF26B     Wang2023:212chr1:
245849970-245849970
GAexonicDe novononsynonymous SNVNM_018012c.G3685Ap.V1229I17.012.769E-5Wang2023 E
DGCR6     Wang2023:215chr22:
18899168-18899168
ACexonicDe novononsynonymous SNVNM_005675c.A629Cp.Q210P8.278-Wang2023 E
YLPM1     Wang2023:214chr14:
75230946-75230946
GGCexonicDe novoframeshift insertionNM_019589c.755dupCp.A252fs-1.0E-4Wang2023 E
MYH9     Wang2023:208chr22:
36681789-36681789
CTexonicDe novononsynonymous SNVNM_002473c.G5189Ap.R1730H35.0-Wang2023 E
HMGXB3     Wang2023:207chr5:
149431384-149431384
CTexonicDe novononsynonymous SNVNM_014983c.C3508Tp.R1170W12.884.467E-5Wang2023 E
MYCT1     Wang2023:211chr6:
153043081-153043081
GAexonicDe novononsynonymous SNVNM_025107c.G401Ap.R134Q26.2-Wang2023 E
BCL7A     Wang2023:211chr12:
122460011-122460011
CAexonicDe novostopgainNM_001024808
NM_020993
c.C14A
c.C14A
p.S5X
p.S5X
37.0-Wang2023 E
INTS8     Wang2023:219chr8:
95877839-95877840
TCTexonicDe novoframeshift deletionNM_017864c.2183delCp.S728fs--Wang2023 E
WDR5     Wang2023:218chr9:
137019627-137019627
CAexonicDe novononsynonymous SNVNM_052821
NM_017588
c.C671A
c.C671A
p.P224Q
p.P224Q
23.2-Wang2023 E
POLR2H     Wang2023:224chr3:
184082975-184082975
AGexonicDe novononsynonymous SNVNM_001278698
NM_001278699
NM_001278700
NM_001278714
NM_001278715
NM_006232
c.A212G
c.A104G
c.A104G
c.A212G
c.A104G
c.A212G
p.D71G
p.D35G
p.D35G
p.D71G
p.D35G
p.D71G
25.3-Wang2023 E
NPTX2     Wang2023:222chr7:
98247114-98247114
GTexonicDe novononsynonymous SNVNM_002523c.G341Tp.G114V24.8-Wang2023 E
TIAM2     Wang2023:215chr6:
155450541-155450541
CTexonicDe novostopgainNM_012454c.C184Tp.R62X47.08.242E-6Wang2023 E
PTPRU     Wang2023:215chr1:
29639092-29639092
GAexonicDe novononsynonymous SNVNM_001195001
NM_133178
NM_005704
NM_133177
c.G3092A
c.G3101A
c.G3131A
c.G3119A
p.R1031H
p.R1034H
p.R1044H
p.R1040H
22.5-Wang2023 E
MTHFD2L     Wang2023:217chr4:
75023944-75023944
GAexonicDe novononsynonymous SNVNM_001144978c.G89Ap.R30K12.99-Wang2023 E
EFCAB13     Wang2023:217chr17:
45452151-45452151
GCexonicDe novononsynonymous SNVNM_001195192
NM_152347
c.G903C
c.G1191C
p.K301N
p.K397N
19.17-Wang2023 E
NFIX     Wang2023:231chr19:
13136292-13136292
GAexonicDe novononsynonymous SNVNM_001271043
NM_001271044
NM_002501
c.G509A
c.G461A
c.G485A
p.C170Y
p.C154Y
p.C162Y
19.34-Wang2023 E
BBX     Wang2023:231chr3:
107524234-107524234
CTexonicDe novononsynonymous SNVNM_001276286
NM_020235
NM_001142568
c.C1747T
c.C2666T
c.C2756T
p.R583C
p.P889L
p.P919L
11.618.274E-6Wang2023 E
NECAB3     Wang2023:235chr20:
32246570-32246570
CTexonicDe novononsynonymous SNVNM_031232
NM_031231
c.G950A
c.G848A
p.R317H
p.R283H
19.018.405E-6Wang2023 E
FLG2     Wang2023:232chr1:
152323766-152323766
TGexonicDe novononsynonymous SNVNM_001014342c.A6496Cp.T2166P16.01-Wang2023 E
CDC34     Wang2023:227chr19:
537147-537147
GAexonicDe novononsynonymous SNVNM_004359c.G497Ap.R166Q16.21-Wang2023 E
ZNF365     Wang2023:224chr10:
64136293-64136293
CTexonicDe novononsynonymous SNVNM_014951
NM_199450
NM_199451
c.C341T
c.C341T
c.C341T
p.P114L
p.P114L
p.P114L
20.2-Wang2023 E
PIEZO2     Wang2023:228chr18:
10773452-10773452
CTexonicDe novononsynonymous SNVNM_022068c.G2668Ap.G890R14.17-Wang2023 E
LETM1     Wang2023:227chr4:
1836604-1836604
CTexonicDe novononsynonymous SNVNM_012318c.G844Ap.A282T21.9-Wang2023 E
TIAM1     Wang2023:243chr21:
32502582-32502582
GAexonicDe novostopgainNM_003253c.C3994Tp.R1332X49.0-Wang2023 E
MEP1A     Wang2023:243chr6:
46797096-46797096
CAexonicDe novononsynonymous SNVNM_005588c.C932Ap.A311D22.8-Wang2023 E
ADGRG5     Wang2023:245chr16:
57600545-57600545
AGexonicDe novononsynonymous SNVNM_001304376
NM_153837
c.A581G
c.A581G
p.E194G
p.E194G
14.48-Wang2023 E
MECP2     Wang2023:244chrX:
153296605-153296605
GCexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C710G
c.C674G
c.C395G
p.P237R
p.P225R
p.P132R
18.26-Wang2023 E
TNS2     Wang2023:238chr12:
53453841-53453841
CAexonicDe novononsynonymous SNVNM_015319
NM_170754
NM_198316
c.C2446A
c.C2416A
c.C2044A
p.P816T
p.P806T
p.P682T
13.44-Wang2023 E
PPARG     Wang2023:235chr3:
12458450-12458450
CTexonicDe novononsynonymous SNVNM_005037
NM_015869
NM_138711
NM_138712
c.C983T
c.C1067T
c.C983T
c.C983T
p.T328I
p.T356I
p.T328I
p.T328I
13.18-Wang2023 E
ITGAE     Wang2023:241chr17:
3661113-3661113
CTexonicDe novononsynonymous SNVNM_002208c.G907Ap.A303T17.388.237E-6Wang2023 E
CHD8     Wang2023:241chr14:
21854054-21854054
GGGAexonicDe novoframeshift insertionNM_001170629
NM_020920
c.7463_7464insTC
c.6626_6627insTC
p.S2488fs
p.S2209fs
--Wang2023 E
MEGF8     Wang2023:254chr19:
42855816-42855816
CTexonicDe novononsynonymous SNVNM_001410
NM_001271938
c.C2803T
c.C3004T
p.R935W
p.R1002W
20.9-Wang2023 E
TFF2     Wang2023:251chr21:
43767690-43767690
GCexonicDe novononsynonymous SNVNM_005423c.C281Gp.P94R6.768-Wang2023 E
RICTOR     Wang2023:256chr5:
38947427-38947427
TCexonicDe novononsynonymous SNVNM_001285440
NM_152756
NM_001285439
c.A3398G
c.A4253G
c.A4325G
p.Y1133C
p.Y1418C
p.Y1442C
17.04-Wang2023 E
RBM5     Wang2023:255chr3:
50129532-50129532
GAexonicDe novononsynonymous SNVNM_005778c.G74Ap.R25H19.668.238E-6Wang2023 E
SCN2A     Wang2023:247chr2:
166237647-166237647
CAexonicDe novostopgainNM_001040143
NM_001040142
NM_021007
c.C4491A
c.C4491A
c.C4491A
p.Y1497X
p.Y1497X
p.Y1497X
42.0-Wang2023 E
ZMYM2     Wang2023:245chr13:
20638671-20638671
CTexonicDe novostopgainNM_001190965
NM_197968
NM_001190964
NM_003453
c.C3118T
c.C3118T
c.C3118T
c.C3118T
p.R1040X
p.R1040X
p.R1040X
p.R1040X
42.0-Wang2023 E
VPS13B     Wang2023:250chr8:
100523347-100523347
CGexonicDe novononsynonymous SNVNM_017890
NM_152564
c.C4315G
c.C4240G
p.L1439V
p.L1414V
15.01-Wang2023 E
MECP2     Wang2023:250chrX:
153296363-153296363
GAexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C952T
c.C916T
c.C637T
p.R318C
p.R306C
p.R213C
21.0-Wang2023 E
SUN3     Wang2023:260chr7:
48045566-48045566
CTexonicDe novononsynonymous SNVNM_001030019
NM_001284350
NM_152782
c.G577A
c.G541A
c.G577A
p.G193R
p.G181R
p.G193R
16.768.346E-6Wang2023 E
SLC22A8     Wang2023:260chr11:
62762211-62762211
GTexonicDe novononsynonymous SNVNM_001184736
NM_001184732
NM_001184733
NM_004254
c.C650A
c.C1019A
c.C746A
c.C1019A
p.A217D
p.A340D
p.A249D
p.A340D
19.95-Wang2023 E
IQSEC3     Wang2023:262chr12:
208328-208328
CTexonicDe novononsynonymous SNVNM_001170738c.C571Tp.H191Y15.78-Wang2023 E
PBRM1     Wang2023:261chr3:
52696171-52696171
TCexonicDe novononsynonymous SNVNM_018313c.A506Gp.N169S13.428.239E-6Wang2023 E
PTPRJ     Wang2023:258chr11:
48152070-48152070
GTexonicDe novononsynonymous SNVNM_001098503
NM_002843
c.G1417T
c.G1417T
p.A473S
p.A473S
17.0-Wang2023 E
TMEM240     Wang2023:257chr1:
1470812-1470812
TCexonicDe novononsynonymous SNVNM_001114748c.A449Gp.E150G8.99-Wang2023 E
NELL2     Wang2023:260chr12:
44915904-44915904
TCexonicDe novononsynonymous SNVNM_001145108
NM_001145109
NM_001145107
NM_001145110
NM_006159
c.A2054G
c.A2051G
c.A2204G
c.A2123G
c.A2054G
p.D685G
p.D684G
p.D735G
p.D708G
p.D685G
27.7-Wang2023 E
STK11IP     Wang2023:259chr2:
220467214-220467214
GAexonicDe novononsynonymous SNVNM_052902c.G463Ap.D155N34.05.809E-5Wang2023 E
SLC52A2     Wang2023:270chr8:
145584011-145584011
AGexonicDe novononsynonymous SNVNM_001253815
NM_001253816
NM_024531
c.A859G
c.A859G
c.A859G
p.N287D
p.N287D
p.N287D
15.22-Wang2023 E
BTAF1     Wang2023:269chr10:
93776124-93776124
TCexonicDe novononsynonymous SNVNM_003972c.T4612Cp.S1538P28.1-Wang2023 E
NPC1     Wang2023:275chr18:
21140315-21140315
GAexonicDe novononsynonymous SNVNM_000271c.C761Tp.P254L14.99-Wang2023 E
ALDH8A1     Wang2023:275chr6:
135265038-135265038
GAexonicDe novononsynonymous SNVNM_001193480
NM_022568
NM_170771
c.C205T
c.C205T
c.C205T
p.R69C
p.R69C
p.R69C
23.72.478E-5Wang2023 E
MIB2     Wang2023:267chr1:
1564588-1564588
GAexonicDe novononsynonymous SNVNM_001170688
NM_001170689
NM_001170686
NM_001170687
NM_080875
c.G2428A
c.G2083A
c.G2611A
c.G2581A
c.G2623A
p.G810S
p.G695S
p.G871S
p.G861S
p.G875S
33.0-Wang2023 E
ZZEF1     Wang2023:262chr17:
4027300-4027300
CGexonicDe novononsynonymous SNVNM_015113c.G400Cp.E134Q19.5-Wang2023 E
PEPD     Wang2023:268chr19:
33904512-33904512
GAexonicDe novononsynonymous SNVNM_001166056
NM_001166057
NM_000285
c.C586T
c.C517T
c.C709T
p.R196C
p.R173C
p.R237C
23.59.15E-5Wang2023 E
LAMA2     Wang2023:268chr6:
129618869-129618869
CTexonicDe novononsynonymous SNVNM_000426
NM_001079823
c.C2896T
c.C2896T
p.P966S
p.P966S
26.1-Wang2023 E
ASPM     Wang2023:285chr1:
197102546-197102546
GAexonicDe novononsynonymous SNVNM_001206846
NM_018136
c.C2353T
c.C2353T
p.L785F
p.L785F
22.1-Wang2023 E
PTK6     Wang2023:284chr20:
62163885-62163885
GTexonicDe novononsynonymous SNVNM_005975c.C826Ap.L276I14.49-Wang2023 E
ANKRD13B     Wang2023:287chr17:
27934874-27934874
GAexonicDe novononsynonymous SNVNM_152345c.G229Ap.E77K35.0-Wang2023 E
NSMAF     Wang2023:285chr8:
59509982-59509982
TCexonicDe novononsynonymous SNVNM_001144772
NM_003580
c.A1849G
c.A1756G
p.T617A
p.T586A
10.3-Wang2023 E
TAS2R19     Wang2023:276chr12:
11174912-11174912
CGexonicDe novononsynonymous SNVNM_176888c.G259Cp.A87P11.2-Wang2023 E
SNRNP40     Wang2023:276chr1:
31769486-31769486
TCexonicDe novononsynonymous SNVNM_004814c.A113Gp.Q38R12.58-Wang2023 E
DOPEY1     Wang2023:283chr6:
83834482-83834482
TAexonicDe novononsynonymous SNVNM_001199942
NM_015018
c.T1372A
c.T1399A
p.L458I
p.L467I
10.91-Wang2023 E
CEP170B     Wang2023:281chr14:
105353608-105353608
AGexonicDe novononsynonymous SNVNM_015005
NM_001112726
c.A2822G
c.A3032G
p.Q941R
p.Q1011R
0.032-Wang2023 E
KDM5B     Wang2023:300chr1:
202702769-202702769
CCGexonicDe novoframeshift insertionNM_006618
NM_001314042
c.3668_3669insC
c.3776_3777insC
p.R1223fs
p.R1259fs
--Wang2023 E
USP34     Wang2023:295chr2:
61447571-61447571
GAexonicDe novostopgainNM_014709c.C7921Tp.Q2641X37.08.288E-6Wang2023 E
ZNF180     Wang2023:301chr19:
44981362-44981362
AGexonicDe novononsynonymous SNVNM_001278508
NM_001288761
NM_001288762
NM_001278509
NM_001288759
NM_001291633
NM_013256
NM_001288760
c.T1261C
c.T307C
c.T307C
c.T1255C
c.T1333C
c.T1255C
c.T1336C
c.T307C
p.F421L
p.F103L
p.F103L
p.F419L
p.F445L
p.F419L
p.F446L
p.F103L
23.5-Wang2023 E
TAS1R1     Wang2023:300chr1:
6631258-6631258
CAexonicDe novononsynonymous SNVNM_138697
NM_177540
c.C481A
c.C481A
p.P161T
p.P161T
7.2078.967E-6Wang2023 E
PI4KA     Wang2023:291chr22:
21119516-21119516
GAexonicDe novononsynonymous SNVNM_058004c.C2446Tp.P816S25.4-Wang2023 E
MECP2     Wang2023:287chrX:
153296471-153296471
GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337
c.C844T
c.C808T
c.C529T
p.R282X
p.R270X
p.R177X
29.5-Wang2023 E
CEP170B     Wang2023:295chr14:
105350168-105350168
GCexonicDe novononsynonymous SNVNM_015005
NM_001112726
c.G842C
c.G1052C
p.G281A
p.G351A
19.61-Wang2023 E
POSTN     Wang2023:293chr13:
38145566-38145567
CTCexonicDe novoframeshift deletionNM_001135935
NM_001286665
NM_006475
c.2037delA
c.2037delA
c.2118delA
p.E679fs
p.E679fs
p.E706fs
--Wang2023 E
PNPLA6     Wang2023:315chr19:
7619570-7619573
CATTCexonicDe novononframeshift deletionNM_001166114
NM_001166111
NM_001166112
NM_001166113
NM_006702
c.2596_2598del
c.2626_2628del
c.2401_2403del
c.2482_2484del
c.2482_2484del
p.866_866del
p.876_876del
p.801_801del
p.828_828del
p.828_828del
--Wang2023 E
CNTN1     Wang2023:315chr12:
41374707-41374716
TCAGGCCCTCTexonicDe novononframeshift deletionNM_175038
NM_001843
c.1772_1777del
c.1805_1810del
p.591_593del
p.602_604del
-8.253E-6Wang2023 E
PLEKHN1     Wang2023:318chr1:
907513-907513
GAexonicDe novononsynonymous SNVNM_001160184
NM_032129
c.G884A
c.G848A
p.R295H
p.R283H
5.2143.342E-5Wang2023 E
DNAH5     Wang2023:317chr5:
13716696-13716696
ATexonicDe novononsynonymous SNVNM_001369c.T12809Ap.V4270D25.2-Wang2023 E
ASXL1     Wang2023:310chr20:
31021653-31021653
CTexonicDe novononsynonymous SNVNM_015338c.C1652Tp.T551I22.7-Wang2023 E
VIPR1     Wang2023:305chr3:
42572370-42572370
GAexonicDe novononsynonymous SNVNM_001251884
NM_001251885
NM_004624
NM_001251882
c.G592A
c.G655A
c.G736A
c.G613A
p.V198I
p.V219I
p.V246I
p.V205I
11.48.237E-6Wang2023 E
RAB28     Wang2023:313chr4:
13383195-13383195
TCexonicDe novononsynonymous SNVNM_001017979
NM_001159601
NM_004249
c.A415G
c.A415G
c.A415G
p.I139V
p.I139V
p.I139V
5.93-Wang2023 E
COL8A2     Wang2023:312chr1:
36564360-36564360
CTexonicDe novononsynonymous SNVNM_001294347
NM_005202
c.G727A
c.G922A
p.G243R
p.G308R
14.84-Wang2023 E
PIK3R2       Wang2023:324chr19:
18271314-18271314
CTexonicDe novononsynonymous SNVNM_005027c.C356Tp.S119F11.28-Wang2023 E
SCN8A     Wang2023:323chr12:
52081004-52081004
GAsplicingDe novosplicing26.2-Wang2023 E
LRFN2     Wang2023:325chr6:
40399870-40399870
CTexonicDe novononsynonymous SNVNM_020737c.G983Ap.R328H16.759.218E-5Wang2023 E
SLC27A1     Wang2023:324chr19:
17611405-17611405
AGexonicDe novononsynonymous SNVNM_198580c.A1435Gp.S479G10.11-Wang2023 E
MGAM2     Wang2023:319chr7:
141921513-141921513
GCexonicDe novononsynonymous SNVNM_001293626c.G7202Cp.S2401T--Wang2023 E
ZNF556     Wang2023:318chr19:
2878037-2878037
GAexonicDe novononsynonymous SNVNM_001300843
NM_024967
c.G1078A
c.G1081A
p.V360I
p.V361I
5.995-Wang2023 E
MECP2     Wang2023:320chrX:
153296363-153296363
GAexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C952T
c.C916T
c.C637T
p.R318C
p.R306C
p.R213C
21.0-Wang2023 E
UBR5     Wang2023:319chr8:
103372354-103372354
GAexonicDe novononsynonymous SNVNM_001282873
NM_015902
c.C331T
c.C331T
p.P111S
p.P111S
16.34-Wang2023 E
SOX5     Wang2023:335chr12:
23998926-23998926
CTexonicDe novononsynonymous SNVNM_001261415
NM_006940
NM_152989
NM_001261414
c.G442A
c.G472A
c.G433A
c.G433A
p.E148K
p.E158K
p.E145K
p.E145K
36.0-Wang2023 E
SLCO6A1     Wang2023:333chr5:
101794099-101794099
CTexonicDe novononsynonymous SNVNM_001289004
NM_001289002
NM_173488
c.G932A
c.G1118A
c.G1118A
p.C311Y
p.C373Y
p.C373Y
3.968.273E-6Wang2023 E
SEMA6B     Wang2023:337chr19:
4548296-4548296
ATexonicDe novononsynonymous SNVNM_032108c.T1433Ap.F478Y23.1-Wang2023 E
KREMEN1     Wang2023:336chr22:
29533475-29533477
CCTCexonicDe novoframeshift deletionNM_001039570
NM_032045
c.778_779del
c.778_779del
p.L260fs
p.L260fs
--Wang2023 E
MYADM     Wang2023:328chr19:
54377323-54377323
GCexonicDe novononsynonymous SNVNM_001020818
NM_001290194
NM_001020819
NM_001020820
NM_001020821
NM_001290188
NM_001290189
NM_001290190
NM_001290191
NM_001290192
NM_001290193
NM_138373
c.G540C
c.G540C
c.G540C
c.G540C
c.G540C
c.G540C
c.G540C
c.G540C
c.G540C
c.G540C
c.G540C
c.G540C
p.E180D
p.E180D
p.E180D
p.E180D
p.E180D
p.E180D
p.E180D
p.E180D
p.E180D
p.E180D
p.E180D
p.E180D
19.31-Wang2023 E
CPS1     Wang2023:328chr2:
211469942-211469942
ACexonicDe novononsynonymous SNVNM_001122634
NM_001875
NM_001122633
c.A600C
c.A1953C
c.A1971C
p.E200D
p.E651D
p.E657D
18.76-Wang2023 E
TCF7L2     Wang2023:330chr10:
114849270-114849270
CGexonicDe novononsynonymous SNVNM_001146283c.C595Gp.Q199E1.301-Wang2023 E
CTNNB1     Wang2023:329chr3:
41277958-41277960
CAGCexonicDe novoframeshift deletionNM_001098209
NM_001098210
NM_001904
c.1923_1924del
c.1923_1924del
c.1923_1924del
p.T641fs
p.T641fs
p.T641fs
--Wang2023 E
PCYT2     Wang2023:342chr17:
79863006-79863006
GAexonicDe novononsynonymous SNVNM_001256433
NM_001256435
NM_001282203
NM_001282204
NM_002861
NM_001184917
NM_001256434
c.C832T
c.C760T
c.C760T
c.C898T
c.C994T
c.C1048T
c.C871T
p.R278C
p.R254C
p.R254C
p.R300C
p.R332C
p.R350C
p.R291C
8.4381.0E-4Wang2023 E
CYB5B     Wang2023:342chr16:
69458662-69458662
TAexonicDe novononsynonymous SNVNM_030579c.T76Ap.Y26N17.16-Wang2023 E
BRSK1     Wang2023:344chr19:
55798386-55798386
CTexonicDe novononsynonymous SNVNM_032430c.C148Tp.L50F23.1-Wang2023 E
CCT6B     Wang2023:343chr17:
33269839-33269839
TCexonicDe novononsynonymous SNVNM_001193530
NM_006584
c.A566G
c.A701G
p.N189S
p.N234S
17.141.923E-5Wang2023 E
PKD1L1     Wang2023:340chr7:
47937731-47937731
TCexonicDe novononsynonymous SNVNM_138295c.A2125Gp.I709V15.93-Wang2023 E
ALDH1B1     Wang2023:338chr9:
38395794-38395794
GAexonicDe novononsynonymous SNVNM_000692c.G49Ap.A17T0.6458.422E-6Wang2023 E
SHANK3     Wang2023:341chr22:
51160342-51160344
GACGexonicDe novoframeshift deletionNM_033517c.4040_4041delp.D1347fs--Wang2023 E
PREX2     Wang2023:340chr8:
69009275-69009275
AGexonicDe novononsynonymous SNVNM_024870
NM_025170
c.A2392G
c.A2392G
p.M798V
p.M798V
13.758.243E-6Wang2023 E
DYNC1H1     Wang2023:352chr14:
102510939-102510939
GTexonicDe novostopgainNM_001376c.G12910Tp.E4304X55.0-Wang2023 E
ATP5B     Wang2023:352chr12:
57033945-57033945
TGexonicDe novononsynonymous SNVNM_001686c.A1106Cp.D369A18.6-Wang2023 E
PTPRB     Wang2023:353chr12:
70960273-70960273
CAexonicDe novononsynonymous SNVNM_001206971
NM_002837
NM_001109754
c.G2922T
c.G3192T
c.G3846T
p.Q974H
p.Q1064H
p.Q1282H
10.29-Wang2023 E
NAP1L4     Wang2023:352chr11:
2981055-2981055
GTexonicDe novononsynonymous SNVNM_005969c.C691Ap.P231T23.0-Wang2023 E
ADAM7     Wang2023:346chr8:
24339687-24339687
GCexonicDe novononsynonymous SNVNM_003817c.G738Cp.L246F13.158.396E-6Wang2023 E
SRRM4     Wang2023:344chr12:
119594407-119594407
GAexonicDe novononsynonymous SNVNM_194286c.G1640Ap.R547H15.91-Wang2023 E
C1QTNF2     Wang2023:351chr5:
159776497-159776497
TCexonicDe novononsynonymous SNVNM_031908c.A671Gp.H224R17.832.471E-5Wang2023 E
MMP27     Wang2023:348chr11:
102575332-102575332
CTexonicDe novononsynonymous SNVNM_022122c.G277Ap.V93M16.861.648E-5Wang2023 E
RBBP6     Wang2023:362chr16:
24582483-24582483
GCexonicDe novononsynonymous SNVNM_018703
NM_006910
c.G3994C
c.G4096C
p.E1332Q
p.E1366Q
15.5-Wang2023 E
AKAP1     Wang2023:361chr17:
55196403-55196404
GAGexonicDe novoframeshift deletionNM_003488
NM_001242902
NM_001242903
c.2636delA
c.2636delA
c.2636delA
p.E879fs
p.E879fs
p.E879fs
--Wang2023 E
ITPKB     Wang2023:365chr1:
226924183-226924183
GAexonicDe novononsynonymous SNVNM_002221c.C977Tp.P326L7.112-Wang2023 E
EGR2     Wang2023:363chr10:
64573304-64573304
GAexonicDe novononsynonymous SNVNM_000399
NM_001136177
NM_001136179
NM_001136178
c.C1094T
c.C1094T
c.C944T
c.C1094T
p.T365I
p.T365I
p.T315I
p.T365I
17.55-Wang2023 E
ZNF831     Wang2023:354chr20:
57767980-57767980
ACexonicDe novononsynonymous SNVNM_178457c.A1906Cp.K636Q13.22-Wang2023 E
TLN1     Wang2023:353chr9:
35699374-35699374
GAexonicDe novostopgainNM_006289c.C6853Tp.Q2285X50.0-Wang2023 E
SH3BP4     Wang2023:357chr2:
235951736-235951736
GAexonicDe novononsynonymous SNVNM_014521c.G2323Ap.A775T18.01-Wang2023 E
MBTD1     Wang2023:357chr17:
49297791-49297791
CTexonicDe novononsynonymous SNVNM_017643c.G188Ap.R63Q23.9-Wang2023 E
NLRP5     Wang2023:375chr19:
56538902-56538902
GTexonicDe novostopgainNM_153447c.G1303Tp.E435X18.54-Wang2023 E
WDFY4     Wang2023:373chr10:
49998004-49998004
TGexonicDe novononsynonymous SNVNM_020945c.T4040Gp.I1347S19.74-Wang2023 E
KIF20B     Wang2023:377chr10:
91497576-91497576
GAexonicDe novononsynonymous SNVNM_001284259
NM_016195
c.G2978A
c.G2858A
p.R993H
p.R953H
0.0488.296E-5Wang2023 E
DIRC2     Wang2023:376chr3:
122525782-122525782
TGexonicDe novostopgainNM_032839c.T422Gp.L141X39.0-Wang2023 E
AIFM3     Wang2023:372chr22:
21329043-21329043
GAexonicDe novononsynonymous SNVNM_001018060
NM_001146288
NM_144704
c.G658A
c.G676A
c.G658A
p.D220N
p.D226N
p.D220N
28.8-Wang2023 E
WNT5A     Wang2023:371chr3:
55504241-55504241
CAexonicDe novononsynonymous SNVNM_001256105
NM_003392
c.G977T
c.G1022T
p.G326V
p.G341V
30.0-Wang2023 E
USP33     Wang2023:372chr1:
78207116-78207116
TCsplicingDe novosplicing20.3-Wang2023 E
IGSF9B     Wang2023:372chr11:
133789656-133789656
GAexonicDe novononsynonymous SNVNM_001277285c.C3964Tp.P1322S4.4929.039E-5Wang2023 E
RUFY4     Wang2023:384chr2:
218941241-218941241
GAexonicDe novononsynonymous SNVNM_198483c.G1340Ap.R447Q5.82.0E-4Wang2023 E
TTN     Wang2023:379chr2:
179434987-179434987
ATexonicDe novononsynonymous SNVNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550
c.T48677A
c.T49052A
c.T49253A
c.T68168A
c.T70949A
c.T75872A
p.L16226H
p.L16351H
p.L16418H
p.L22723H
p.L23650H
p.L25291H
12.11-Wang2023 E
CHD5     Wang2023:386chr1:
6184614-6184614
ACexonicDe novononsynonymous SNVNM_015557c.T4502Gp.L1501R35.0-Wang2023 E
CLTC     Wang2023:385chr17:
57760839-57760839
TCexonicDe novononsynonymous SNVNM_001288653
NM_004859
c.T4145C
c.T4133C
p.M1382T
p.M1378T
17.7-Wang2023 E
SCN2A     Wang2023:378chr2:
166172242-166172244
GAAGexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007
c.1646_1647del
c.1646_1647del
c.1646_1647del
p.E549fs
p.E549fs
p.E549fs
--Wang2023 E
MED13L     Wang2023:377chr12:
116420410-116420410
TAsplicingDe novosplicing19.17-Wang2023 E
PLXNB2     Wang2023:379chr22:
50728584-50728584
CTexonicDe novononsynonymous SNVNM_012401c.G430Ap.V144M15.45-Wang2023 E
VN1R2     Wang2023:378chr19:
53762176-53762176
TAexonicDe novostopgainNM_173856c.T548Ap.L183X14.18-Wang2023 E
UBB     Wang2023:398chr17:
16285325-16285325
GCexonicDe novononsynonymous SNVNM_001281716
NM_001281717
NM_001281718
NM_001281719
NM_001281720
NM_018955
c.G104C
c.G104C
c.G104C
c.G104C
c.G104C
c.G104C
p.G35A
p.G35A
p.G35A
p.G35A
p.G35A
p.G35A
8.787-Wang2023 E
CC2D2A     Wang2023:398chr4:
15589524-15589524
GAexonicDe novostopgainNM_001080522c.G4151Ap.W1384X39.0-Wang2023 E
ARHGEF28     Wang2023:400chr5:
73190347-73190347
ATexonicDe novononsynonymous SNVNM_001244364
NM_001080479
NM_001177693
c.A2849T
c.A3788T
c.A3788T
p.D950V
p.D1263V
p.D1263V
18.09-Wang2023 E
SHANK3     Wang2023:399chr22:
51159932-51159932
TTGexonicDe novoframeshift insertionNM_033517c.3630dupGp.L1210fs-6.0E-4Wang2023 E
ZNF250     Wang2023:391chr8:
146107004-146107004
GAexonicDe novononsynonymous SNVNM_001109689
NM_021061
c.C1564T
c.C1579T
p.R522W
p.R527W
17.0-Wang2023 E
APC     Wang2023:391chr5:
112176597-112176601
AAAAGAexonicDe novoframeshift deletionNM_001127511
NM_000038
NM_001127510
c.5253_5256del
c.5307_5310del
c.5307_5310del
p.K1751fs
p.K1769fs
p.K1769fs
--Wang2023 E
C16orf87     Wang2023:398chr16:
46858381-46858381
CGexonicDe novononsynonymous SNVNM_001001436c.G80Cp.C27S16.11-Wang2023 E
DAZAP1     Wang2023:396chr19:
1434819-1434819
GAexonicDe novononsynonymous SNVNM_018959c.G1132Ap.V378M16.38-Wang2023 E
SCN2A     Wang2023:407chr2:
166170174-166170174
CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.C1079T
c.C1079T
c.C1079T
p.P360L
p.P360L
p.P360L
33.0-Wang2023 E
PRKG2     Wang2023:407chr4:
82027001-82027001
GCexonicDe novononsynonymous SNVNM_001282481
NM_001282482
NM_001282483
NM_001282480
NM_001282485
NM_006259
c.C769G
c.C682G
c.C589G
c.C769G
c.C1942G
c.C2029G
p.R257G
p.R228G
p.R197G
p.R257G
p.R648G
p.R677G
14.06-Wang2023 E
MFHAS1     Wang2023:409chr8:
8748386-8748386
TCexonicDe novononsynonymous SNVNM_004225c.A2183Gp.H728R11.69-Wang2023 E
RYR3     Wang2023:408chr15:
34105154-34105154
CAexonicDe novononsynonymous SNVNM_001243996
NM_001036
c.C10333A
c.C10348A
p.R3445S
p.R3450S
23.4-Wang2023 E
LRP1     Wang2023:403chr12:
57594233-57594233
CGexonicDe novononsynonymous SNVNM_002332c.C10023Gp.C3341W13.01-Wang2023 E
RAD54B       Wang2023:400chr8:
95479721-95479721
TCexonicDe novononsynonymous SNVNM_001205262
NM_012415
c.A47G
c.A47G
p.K16R
p.K16R
22.5-Wang2023 E
CDC25A     Wang2023:407chr3:
48200856-48200856
TCexonicDe novononsynonymous SNVNM_201567
NM_001789
c.A1292G
c.A1412G
p.K431R
p.K471R
18.11-Wang2023 E
KRTAP26-1     Wang2023:405chr21:
31692028-31692028
GTexonicDe novononsynonymous SNVNM_203405c.C326Ap.P109Q13.5-Wang2023 E
NBPF7   Wang2023:417chr1:
120377497-120377497
TAexonicDe novononsynonymous SNVNM_001047980c.A1157Tp.D386V--Wang2023 E
WNT10A     Wang2023:416chr2:
219747126-219747126
GCexonicDe novononsynonymous SNVNM_025216c.G357Cp.E119D9.058-Wang2023 E
PRSS36     Wang2023:417chr16:
31152043-31152043
TAexonicDe novononsynonymous SNVNM_001258290
NM_001258291
NM_173502
c.A1922T
c.A1937T
c.A1937T
p.Y641F
p.Y646F
p.Y646F
15.69-Wang2023 E
PGLYRP3     Wang2023:417chr1:
153279585-153279585
AGexonicDe novononsynonymous SNVNM_052891c.T214Cp.S72P10.61-Wang2023 E
TBC1D1     Wang2023:413chr4:
37904080-37904080
GAexonicDe novononsynonymous SNVNM_001253912
NM_015173
c.G364A
c.G364A
p.A122T
p.A122T
0.014-Wang2023 E
NYNRIN     Wang2023:413chr14:
24877726-24877726
CGexonicDe novononsynonymous SNVNM_025081c.C850Gp.L284V9.2414.219E-5Wang2023 E
CRTAM     Wang2023:416chr11:
122726543-122726543
CAexonicDe novononsynonymous SNVNM_019604c.C631Ap.P211T11.61-Wang2023 E
GP9     Wang2023:415chr3:
128780734-128780734
CAexonicDe novononsynonymous SNVNM_000174c.C152Ap.A51D4.7933.53E-5Wang2023 E
ITIH4     Wang2023:423chr3:
52852107-52852107
GAexonicDe novononsynonymous SNVNM_001166449
NM_002218
c.C2167T
c.C2257T
p.R723C
p.R753C
15.254.986E-5Wang2023 E
BCO1     Wang2023:423chr16:
81272569-81272569
ACexonicDe novononsynonymous SNVNM_017429c.A56Cp.K19T2.941-Wang2023 E
ACADS     Wang2023:427chr12:
121175769-121175769
CTexonicDe novononsynonymous SNVNM_000017c.C602Tp.T201M20.31.655E-5Wang2023 E
ZPBP     Wang2023:425chr7:
50070817-50070817
TCexonicDe novononsynonymous SNVNM_001159878
NM_007009
c.A574G
c.A577G
p.K192E
p.K193E
8.861-Wang2023 E
RYR3     Wang2023:419chr15:
33905545-33905549
TTCCCTexonicDe novoframeshift deletionNM_001036
NM_001243996
c.2327_2330del
c.2327_2330del
p.F776fs
p.F776fs
--Wang2023 E
BRSK2     Wang2023:418chr11:
1477582-1477584
CCACexonicDe novoframeshift deletionNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957
c.1674_1675del
c.1674_1675del
c.1812_1813del
c.1494_1495del
c.1674_1675del
p.P558fs
p.P558fs
p.P604fs
p.P498fs
p.P558fs
--Wang2023 E
MMAA     Wang2023:422chr4:
146567162-146567162
GAexonicDe novononsynonymous SNVNM_172250c.G587Ap.R196Q34.02.472E-5Wang2023 E
ASXL3     Wang2023:422chr18:
31318938-31318938
GTexonicDe novostopgainNM_030632c.G1570Tp.E524X15.06-Wang2023 E
SLC45A4     Wang2023:434chr8:
142231796-142231796
GAexonicDe novononsynonymous SNVNM_001080431
NM_001286646
NM_001286648
c.C157T
c.C310T
c.C157T
p.L53F
p.L104F
p.L53F
16.77-Wang2023 E
HTRA1     Wang2023:434chr10:
124266318-124266318
GAexonicDe novononsynonymous SNVNM_002775c.G889Ap.V297M32.0-Wang2023 E
DICER1     Wang2023:436chr14:
95593063-95593063
TCexonicDe novononsynonymous SNVNM_001195573
NM_001271282
NM_001291628
NM_177438
NM_030621
c.A757G
c.A757G
c.A757G
c.A757G
c.A757G
p.I253V
p.I253V
p.I253V
p.I253V
p.I253V
9.664-Wang2023 E
PHACTR2     Wang2023:435chr6:
144074941-144074941
AGexonicDe novononsynonymous SNVNM_001100164
NM_001100165
NM_001100166
NM_014721
c.A346G
c.A346G
c.A313G
c.A313G
p.I116V
p.I116V
p.I105V
p.I105V
18.48-Wang2023 E
NSD1     Wang2023:430chr5:
176636962-176636962
AGexonicDe novononsynonymous SNVNM_022455
NM_172349
c.A1562G
c.A755G
p.H521R
p.H252R
2.792-Wang2023 E
SLC41A1     Wang2023:427chr1:
205767104-205767104
CTexonicDe novononsynonymous SNVNM_173854c.G920Ap.R307Q16.161.648E-5Wang2023 E
FASN     Wang2023:434chr17:
80047175-80047175
GCexonicDe novononsynonymous SNVNM_004104c.C2051Gp.S684C22.4-Wang2023 E
PEX1     Wang2023:433chr7:
92147191-92147191
AGexonicDe novononsynonymous SNVNM_000466
NM_001282677
NM_001282678
c.T638C
c.T638C
c.T14C
p.L213P
p.L213P
p.L5P
0.157-Wang2023 E
ARHGAP39     Wang2023:442chr8:
145755969-145755969
GCexonicDe novononsynonymous SNVNM_001308208
NM_025251
NM_001308207
c.C3089G
c.C3182G
c.C3089G
p.T1030S
p.T1061S
p.T1030S
20.0-Wang2023 E
TNPO3     Wang2023:440chr7:
128626800-128626800
GAexonicDe novononsynonymous SNVNM_012470c.C1673Tp.A558V33.0-Wang2023 E
BDKRB1     Wang2023:447chr14:
96730851-96730851
GCexonicDe novononsynonymous SNVNM_000710c.G832Cp.V278L0.049-Wang2023 E
ENTPD4     Wang2023:444chr8:
23290495-23290495
CTexonicDe novononsynonymous SNVNM_001128930
NM_004901
c.G1771A
c.G1795A
p.A591T
p.A599T
11.112.864E-5Wang2023 E
PSMA3     Wang2023:436chr14:
58737707-58737707
ACexonicDe novononsynonymous SNVNM_002788
NM_152132
c.A714C
c.A693C
p.K238N
p.K231N
14.021.712E-5Wang2023 E
HDAC5     Wang2023:436chr17:
42164017-42164017
CTexonicDe novononsynonymous SNVNM_001015053
NM_005474
c.G1976A
c.G1973A
p.R659H
p.R658H
35.01.0E-4Wang2023 E
ZNF646     Wang2023:436chr16:
31094355-31094355
CTexonicDe novononsynonymous SNVNM_014699c.C5441Tp.T1814M10.948.865E-6Wang2023 E
SLC37A2     Wang2023:436chr11:
124955358-124955358
CTexonicDe novononsynonymous SNVNM_001145290
NM_198277
c.C1316T
c.C1316T
p.T439I
p.T439I
21.4-Wang2023 E
MTMR6     Wang2023:451chr13:
25840278-25840278
GAexonicDe novononsynonymous SNVNM_004685c.C451Tp.R151W17.221.672E-5Wang2023 E
PDE4A     Wang2023:449chr19:
10570097-10570097
TAexonicDe novononsynonymous SNVNM_006202
NM_001111307
NM_001111308
NM_001111309
NM_001243121
c.T406A
c.T1123A
c.T1045A
c.T940A
c.T1057A
p.W136R
p.W375R
p.W349R
p.W314R
p.W353R
21.18.239E-6Wang2023 E
DNAJC6     Wang2023:452chr1:
65874398-65874398
GAexonicDe novononsynonymous SNVNM_001256864
NM_014787
NM_001256865
c.G2566A
c.G2395A
c.G2356A
p.G856R
p.G799R
p.G786R
30.0-Wang2023 E
VAX2     Wang2023:451chr2:
71127834-71127834
GTexonicDe novononsynonymous SNVNM_012476c.G83Tp.R28L8.79-Wang2023 E
MGA     Wang2023:448chr15:
42042530-42042530
ACexonicDe novononsynonymous SNVNM_001080541
NM_001164273
c.A6098C
c.A6725C
p.D2033A
p.D2242A
11.13-Wang2023 E
ZNF318     Wang2023:447chr6:
43308178-43308178
CCAexonicDe novoframeshift insertionNM_014345c.3557dupTp.L1186fs--Wang2023 E
ONECUT2     Wang2023:449chr18:
55104119-55104119
AGexonicDe novononsynonymous SNVNM_004852c.A1171Gp.M391V18.71-Wang2023 E
KMT2B     Wang2023:449chr19:
36220952-36220952
CTexonicDe novononsynonymous SNVNM_014727c.C5002Tp.R1668W19.31-Wang2023 E
TTLL11     Wang2023:465chr9:
124752031-124752031
CTexonicDe novononsynonymous SNVNM_001139442
NM_194252
c.G982A
c.G982A
p.D328N
p.D328N
1.492-Wang2023 E
SCNN1B     Wang2023:465chr16:
23392048-23392048
CTexonicDe novononsynonymous SNVNM_000336c.C1849Tp.P617S23.3-Wang2023 E
RALGDS     Wang2023:468chr9:
135977404-135977404
GAexonicDe novononsynonymous SNVNM_001042368
NM_001271774
NM_001271775
NM_001271776
NM_006266
c.C1967T
c.C2045T
c.C2129T
c.C2096T
c.C2132T
p.S656L
p.S682L
p.S710L
p.S699L
p.S711L
26.1-Wang2023 E
SYNGAP1     Wang2023:466chr6:
33411228-33411228
CTexonicDe novostopgainNM_006772c.C2899Tp.R967X40.0-Wang2023 E
SCN2A     Wang2023:458chr2:
166172131-166172131
GTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007
c.G1534T
c.G1534T
c.G1534T
p.E512X
p.E512X
p.E512X
38.0-Wang2023 E
SLC9A4     Wang2023:456chr2:
103095409-103095409
CGexonicDe novononsynonymous SNVNM_001011552c.C368Gp.P123R26.6-Wang2023 E
ARID2     Wang2023:465chr12:
46298749-46298749
TTGCTAexonicDe novoframeshift insertionNM_152641c.5396_5397insGCTAp.V1799fs--Wang2023 E
SHPRH     Wang2023:463chr6:
146256215-146256215
CAexonicDe novononsynonymous SNVNM_001042683
NM_173082
c.G2818T
c.G2818T
p.V940L
p.V940L
25.8-Wang2023 E
SLC16A8     Wang2023:475chr22:
38477384-38477384
CTexonicDe novononsynonymous SNVNM_013356c.G661Ap.E221K7.773-Wang2023 E
DMTN     Wang2023:475chr8:
21938634-21938634
AGexonicDe novononsynonymous SNVNM_001114139
NM_001302817
NM_001114137
NM_001114138
NM_001302816
NM_001114135
NM_001114136
NM_001978
c.A893G
c.A914G
c.A968G
c.A968G
c.A968G
c.A1034G
c.A1034G
c.A1034G
p.Y298C
p.Y305C
p.Y323C
p.Y323C
p.Y323C
p.Y345C
p.Y345C
p.Y345C
15.41-Wang2023 E
DGKB     Wang2023:480chr7:
14741338-14741338
CAexonicDe novononsynonymous SNVNM_004080
NM_145695
c.G484T
c.G484T
p.D162Y
p.D162Y
27.0-Wang2023 E
HSPA9     Wang2023:477chr5:
137902403-137902405
CCTCexonicDe novoframeshift deletionNM_004134c.882_883delp.T294fs-2.0E-4Wang2023 E
LRFN1     Wang2023:469chr19:
39804773-39804773
GCexonicDe novononsynonymous SNVNM_020862c.C1204Gp.P402A11.33-Wang2023 E
SLC15A1     Wang2023:468chr13:
99362007-99362007
CTexonicDe novononsynonymous SNVNM_005073c.G967Ap.D323N33.01.648E-5Wang2023 E
FILIP1L     Wang2023:473chr3:
99567701-99567701
CTexonicDe novononsynonymous SNVNM_001282794
NM_014890
NM_001282793
NM_001042459
NM_182909
c.G2099A
c.G2099A
c.G1547A
c.G2819A
c.G2819A
p.G700D
p.G700D
p.G516D
p.G940D
p.G940D
17.72-Wang2023 E
TMPRSS12     Wang2023:470chr12:
51236907-51236907
CTexonicDe novononsynonymous SNVNM_182559c.C160Tp.R54W11.346.062E-5Wang2023 E
VPS4A       Wang2023:489chr16:
69352783-69352783
GAexonicDe novononsynonymous SNVNM_013245c.G401Ap.G134E22.7-Wang2023 E
CEBPG     Wang2023:489chr19:
33870452-33870452
CTexonicDe novononsynonymous SNVNM_001252296
NM_001806
c.C307T
c.C307T
p.R103W
p.R103W
18.378.343E-6Wang2023 E
UPF1     Wang2023:493chr19:
18965994-18965994
CTexonicDe novononsynonymous SNVNM_001297549
NM_002911
c.C1520T
c.C1487T
p.T507M
p.T496M
25.98.341E-6Wang2023 E
TDRD3     Wang2023:492chr13:
61084793-61084793
TAexonicDe novononsynonymous SNVNM_001146070
NM_001146071
NM_030794
c.T1045A
c.T766A
c.T766A
p.S349T
p.S256T
p.S256T
12.13-Wang2023 E
UNK     Wang2023:480chr17:
73812994-73812994
GAsplicingDe novosplicing22.3-Wang2023 E
GPR20     Wang2023:480chr8:
142367588-142367588
CTexonicDe novononsynonymous SNVNM_005293c.G436Ap.V146M21.63.397E-5Wang2023 E
XYLT2     Wang2023:484chr17:
48435595-48435595
CTexonicDe novononsynonymous SNVNM_022167c.C1969Tp.R657C18.46-Wang2023 E
RYR2     Wang2023:481chr1:
237617829-237617829
CAexonicDe novononsynonymous SNVNM_001035c.C1431Ap.N477K14.61-Wang2023 E
LIG1     Wang2023:501chr19:
48631238-48631238
CTexonicDe novononsynonymous SNVNM_001289064
NM_001289063
NM_000234
c.G1657A
c.G1768A
c.G1861A
p.E553K
p.E590K
p.E621K
23.3-Wang2023 E
POGZ     Wang2023:498chr1:
151400680-151400680
TGexonicDe novononsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A493C
c.A619C
c.A619C
c.A778C
c.A778C
p.T165P
p.T207P
p.T207P
p.T260P
p.T260P
11.79-Wang2023 E
KLHDC4     Wang2023:517chr16:
87795586-87795586
CAexonicDe novononsynonymous SNVNM_001184856
NM_017566
c.G160T
c.G160T
p.V54L
p.V54L
5.805-Wang2023 E
MIS18BP1     Wang2023:503chr14:
45705143-45705143
CTexonicDe novononsynonymous SNVNM_018353c.G1222Ap.V408I0.0128.367E-6Wang2023 E
RACGAP1     Wang2023:495chr12:
50410447-50410447
GAexonicDe novononsynonymous SNVNM_001126104
NM_001126103
NM_013277
c.C52T
c.C52T
c.C52T
p.R18W
p.R18W
p.R18W
16.21.0E-4Wang2023 E
ASXL3     Wang2023:495chr18:
31324211-31324211
CTexonicDe novostopgainNM_030632c.C4399Tp.R1467X40.0-Wang2023 E
CCDC181     Wang2023:498chr1:
169391101-169391101
AGexonicDe novononsynonymous SNVNM_001300969
NM_021179
NM_001300968
c.T568C
c.T568C
c.T568C
p.C190R
p.C190R
p.C190R
1.024-Wang2023 E
AKR1B1     Wang2023:496chr7:
134143805-134143805
GCexonicDe novononsynonymous SNVNM_001628c.C10Gp.R4G9.55-Wang2023 E
CHD6     Wang2023:524chr20:
40102026-40102026
TCexonicDe novononsynonymous SNVNM_032221c.A2600Gp.N867S19.19-Wang2023 E
CD4     Wang2023:524chr12:
6925209-6925209
TAexonicDe novononsynonymous SNVNM_001195014c.T58Ap.F20I--Wang2023 E
DBN1     Wang2023:524chr5:
176893773-176893773
ATexonicDe novononsynonymous SNVNM_004395
NM_080881
c.T771A
c.T777A
p.F257L
p.F259L
13.06-Wang2023 E
CTNNA3     Wang2023:524chr10:
68940206-68940206
CTexonicDe novononsynonymous SNVNM_001127384
NM_013266
NM_001291133
c.G916A
c.G916A
c.G952A
p.A306T
p.A306T
p.A318T
23.5-Wang2023 E
MUC6     Wang2023:519chr11:
1016003-1016006
AGAGAexonicDe novononframeshift deletionNM_005961c.6795_6797delp.2265_2266del--Wang2023 E
KIAA0100     Wang2023:519chr17:
26961723-26961723
CGexonicDe novononsynonymous SNVNM_014680c.G2882Cp.R961P11.512.471E-5Wang2023 E
CETP     Wang2023:523chr16:
57004980-57004980
TAexonicDe novononsynonymous SNVNM_000078
NM_001286085
c.T563A</