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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
c.T563A		p.I188N
p.I188N		14.07-Wang2023 E
UBE4A     Wang2023:519chr11:
118235826-118235826		TCexonicDe novononsynonymous SNVNM_001204077
NM_004788		c.T31C
c.T31C		p.S11P
p.S11P		29.2-Wang2023 E
EPB41L4A     Wang2023:528chr5:
111615990-111615990		CAexonicDe novostopgainNM_022140c.G235Tp.E79X37.0-Wang2023 E
NSD1     Wang2023:527chr5:
176710897-176710897		TCexonicDe novononsynonymous SNVNM_022455
NM_172349		c.T6119C
c.T5312C		p.V2040A
p.V1771A		29.7-Wang2023 E
PLD3     Wang2023:532chr19:
40880494-40880499		ACCTGCAexonicDe novoframeshift deletionNM_001031696
NM_001291311
NM_012268		c.987_991del
c.987_991del
c.987_991del		p.Y329fs
p.Y329fs
p.Y329fs		--Wang2023 E
SLC30A6     Wang2023:528chr2:
32429739-32429739		AGexonicDe novononsynonymous SNVNM_001193515
NM_001193514
NM_017964
NM_001193513		c.A659G
c.A746G
c.A746G
c.A866G		p.Y220C
p.Y249C
p.Y249C
p.Y289C		15.89-Wang2023 E
MST1R     Wang2023:524chr3:
49936349-49936349		CTexonicDe novononsynonymous SNVNM_001244937
NM_002447		c.G1499A
c.G1499A		p.R500Q
p.R500Q		15.663.296E-5Wang2023 E
ITGA6     Wang2023:524chr2:
173356022-173356022		TGexonicDe novononsynonymous SNVNM_000210
NM_001079818
NM_001316306		c.T2852G
c.T2852G
c.T2495G		p.I951S
p.I951S
p.I832S		0.4-Wang2023 E
AP3D1     Wang2023:527chr19:
2132486-2132486		TCexonicDe novononsynonymous SNVNM_001261826
NM_003938		c.A446G
c.A446G		p.N149S
p.N149S		16.96-Wang2023 E
MPP3     Wang2023:525chr17:
41903171-41903171		CGexonicDe novononsynonymous SNVNM_001932c.G562Cp.G188R26.7-Wang2023 E
COMT     Wang2023:542chr22:
19951775-19951775		CTexonicDe novononsynonymous SNVNM_007310
NM_000754
NM_001135161
NM_001135162		c.C418T
c.C568T
c.C568T
c.C568T		p.L140F
p.L190F
p.L190F
p.L190F		15.66-Wang2023 E
SCAF1     Wang2023:539chr19:
50155649-50155649		CTexonicDe novononsynonymous SNVNM_021228c.C2003Tp.P668L2.229-Wang2023 E
ANK3     Wang2023:544chr10:
61831926-61831926		GAexonicDe novononsynonymous SNVNM_020987c.C8713Tp.R2905C13.098.302E-6Wang2023 E
HMCN1     Wang2023:543chr1:
186038898-186038898		GGAexonicDe novoframeshift insertionNM_031935c.7984dupAp.V2661fs--Wang2023 E
KIF20B     Wang2023:534chr10:
91477395-91477395		GAexonicDe novononsynonymous SNVNM_001284259
NM_016195		c.G1187A
c.G1187A		p.R396K
p.R396K		33.0-Wang2023 E
ATR     Wang2023:534chr3:
142215952-142215952		GCexonicDe novononsynonymous SNVNM_001184c.C5641Gp.L1881V22.2-Wang2023 E
EIF4A1     Wang2023:538chr17:
7481720-7481723		AGACAexonicDe novononframeshift deletionNM_001416c.1138_1140delp.380_380del--Wang2023 E
SYMPK     Wang2023:534chr19:
46345547-46345547		GAexonicDe novononsynonymous SNVNM_004819c.C1048Tp.R350C28.68.243E-6Wang2023 E
ESYT3     Wang2023:558chr3:
138183200-138183200		TCexonicDe novononsynonymous SNVNM_031913c.T929Cp.V310A16.02-Wang2023 E
SUCO     Wang2023:556chr1:
172579305-172579305		CTexonicDe novononsynonymous SNVNM_001282751
NM_001282750
NM_016227
NM_014283		c.C1982T
c.C2558T
c.C4124T
c.C3671T		p.S661L
p.S853L
p.S1375L
p.S1224L		19.0-Wang2023 E
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