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Results for "Granata2024"

Variant Events: 372

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
PCDH15     Granata2024:A033chr10:
55782653-55782653		TCexonicnonsynonymous SNVNM_001142765
NM_001142767
NM_001142768
NM_001142773
NM_001142764
NM_001142766
NM_033056
NM_001142763		c.A2312G
c.A2414G
c.A2459G
c.A2459G
c.A2525G
c.A2525G
c.A2525G
c.A2540G		p.E771G
p.E805G
p.E820G
p.E820G
p.E842G
p.E842G
p.E842G
p.E847G		18.79-Granata2024 E
FAT1     Granata2024:A044chr4:
187522566-187522566		TCexonicnonsynonymous SNVNM_005245c.A11497Gp.T3833A13.326.0E-4Granata2024 E
FAT1     Granata2024:A044chr4:
187627730-187627730		TCexonicnonsynonymous SNVNM_005245c.A3252Gp.I1084M13.882.0E-4Granata2024 E
ANKMY1     Granata2024:A051chr2:
241468502-241468502		TCexonicnonsynonymous SNVNM_016552
NM_001282771		c.A638G
c.A905G		p.N213S
p.N302S		13.36.0E-4Granata2024 E
ANK3     Granata2024:A052chr10:
61830584-61830584		TCexonicnonsynonymous SNVNM_020987c.A10055Gp.E3352G10.720.0038Granata2024 E
ADCY9     Granata2024:A054chr16:
4027484-4027484		TCexonicnonsynonymous SNVNM_001116c.A2827Gp.S943G19.39-Granata2024 E
RNF19A     Granata2024:A062chr8:
101281057-101281057		TCexonicnonsynonymous SNVNM_183419
NM_001280539
NM_015435		c.A1147G
c.A1147G
c.A1147G		p.I383V
p.I383V
p.I383V		14.241.0E-4Granata2024 E
DST     Granata2024:A070chr6:
56382072-56382072		TCexonicnonsynonymous SNVNM_015548
NM_183380
NM_001144770
NM_001144769		c.A10412G
c.A11390G
c.A11510G
c.A11924G		p.D3471G
p.D3797G
p.D3837G
p.D3975G		18.6-Granata2024 E
KIAA1683     Granata2024:A001chr19:
18368201-18368201		TCexonicnonsynonymous SNVNM_001145304
NM_001145305
NM_025249		c.A3893G
c.A3194G
c.A3332G		p.H1298R
p.H1065R
p.H1111R		0.8947.0E-4Granata2024 E
ICE1     Granata2024:A027chr5:
5457544-5457544		CTexonicnonsynonymous SNVNM_015325c.C791Tp.T264I17.58-Granata2024 E
ICE1     Granata2024:A027chr5:
5461617-5461617		GAexonicnonsynonymous SNVNM_015325c.G2170Ap.E724K14.42-Granata2024 E
BAHCC1     Granata2024:A110chr17:
79408925-79408925		GAexonicunknown0.0832.0E-4Granata2024 E
BAHCC1     Granata2024:A110chr17:
79427678-79427678		GAexonicunknown0.0091.0E-4Granata2024 E
KIAA1683     Granata2024:A001chr19:
18378001-18378001		AGexonicnonsynonymous SNVNM_001145304
NM_001145305
NM_025249		c.T349C
c.T211C
c.T349C		p.Y117H
p.Y71H
p.Y117H		7.576-Granata2024 E
GRIN2A     Granata2024:A019chr16:
9857094-9857094		TCexonicnonsynonymous SNVNM_001134407
NM_000833		c.A4307G
c.A4307G		p.N1436S
p.N1436S		3.7747.0E-4Granata2024 E
DST     Granata2024:A024chr6:
56490044-56490044		TCexonicnonsynonymous SNVNM_001723
NM_015548
NM_183380
NM_001144770
NM_001144769		c.A3130G
c.A3130G
c.A4108G
c.A4228G
c.A4642G		p.M1044V
p.M1044V
p.M1370V
p.M1410V
p.M1548V		7.0711.648E-5Granata2024 E
AHNAK2     Granata2024:A029chr14:
105407770-105407770		TAexonicnonsynonymous SNVNM_138420c.A14018Tp.H4673L1.1779.0E-4Granata2024 E
PDE4DIP     Granata2024:A052chr1:
144854565-144854565		TAexonicnonsynonymous SNVNM_001198834
NM_014644
NM_001198832		c.A6905T
c.A6905T
c.A6587T		p.N2302I
p.N2302I
p.N2196I		0.9930.0011Granata2024 E
ZHX1     Granata2024:A026chr8:
124267811-124267811		GTexonicnonsynonymous SNVNM_001017926
NM_007222		c.C376A
c.C376A		p.P126T
p.P126T		15.132.476E-5Granata2024 E
PRDM15     Granata2024:A029chr21:
43279213-43279213		GTexonicnonsynonymous SNVNM_022115c.C1156Ap.L386I7.808-Granata2024 E
HIVEP3     Granata2024:A044chr1:
42047234-42047234		GTexonicnonsynonymous SNVNM_001127714
NM_024503		c.C3235A
c.C3235A		p.P1079T
p.P1079T		0.1871.0E-4Granata2024 E
USH2A     Granata2024:A015chr1:
216172258-216172258		GCexonicnonsynonymous SNVNM_206933c.C6628Gp.P2210A16.829.0E-4Granata2024 E
AHNAK2     Granata2024:A029chr14:
105421900-105421900		GCexonicnonsynonymous SNVNM_138420c.C386Gp.T129R14.850.0011Granata2024 E
REEP4     Granata2024:A029chr8:
21997001-21997001		GCexonicstopgainNM_001316964
NM_001316965
NM_025232		c.C345G
c.C345G
c.C345G		p.Y115X
p.Y115X
p.Y115X		38.0-Granata2024 E
KIF13B     Granata2024:A075chr8:
28974364-28974364		TCexonicnonsynonymous SNVNM_015254c.A3821Gp.N1274S4.2470.0026Granata2024 E
KIF13B     Granata2024:A075chr8:
28998058-28998058		TCexonicnonsynonymous SNVNM_015254c.A2411Gp.N804S22.03.0E-4Granata2024 E
ARHGEF11     Granata2024:A080chr1:
156949023-156949023		TCexonicnonsynonymous SNVNM_014784
NM_198236		c.A329G
c.A329G		p.K110R
p.K110R		21.08.243E-6Granata2024 E
WDFY3     Granata2024:A082chr4:
85605093-85605093		TCintronic--Granata2024 E
PASK     Granata2024:A084chr2:
242066492-242066492		TCexonicnonsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.A1838G
c.A1733G
c.A1838G
c.A1838G
c.A1838G		p.Y613C
p.Y578C
p.Y613C
p.Y613C
p.Y613C		9.116.654E-5Granata2024 E
LILRB2     Granata2024:A103chr19:
54784122-54784122		TCexonicnonsynonymous SNVNM_001278405
NM_001278406
NM_001080978
NM_001278403
NM_005874		c.A67G
c.A67G
c.A67G
c.A67G
c.A67G		p.T23A
p.T23A
p.T23A
p.T23A
p.T23A		0.0930.0115Granata2024 E
HIVEP2     Granata2024:A014chr6:
143094405-143094405		TAexonicnonsynonymous SNVNM_006734c.A1471Tp.S491C3.445-Granata2024 E
USH2A     Granata2024:A015chr1:
216051094-216051094		TAintronic--Granata2024 E
NSUN2     Granata2024:A009chr5:
6633165-6633165		GAUTR5--Granata2024 E
HIVEP2     Granata2024:A014chr6:
143092493-143092493		GAexonicnonsynonymous SNVNM_006734c.C3383Tp.P1128L6.6333.405E-5Granata2024 E
SEC31B     Granata2024:A024chr10:
102269149-102269149		GAexonicnonsynonymous SNVNM_015490c.C323Tp.S108L17.18.248E-5Granata2024 E
ZHX1     Granata2024:A026chr8:
124266862-124266862		GAexonicnonsynonymous SNVNM_001017926
NM_007222		c.C1325T
c.C1325T		p.P442L
p.P442L		3.3563.0E-4Granata2024 E
PCDH15     Granata2024:A033chr10:
55626625-55626625		GAintronic-0.0041Granata2024 E
TAF1C     Granata2024:A041chr16:
84215475-84215475		GAexonicnonsynonymous SNVNM_005679c.C911Tp.S304F12.80.0027Granata2024 E
IQGAP3     Granata2024:A052chr1:
156508605-156508605		GAexonicnonsynonymous SNVNM_178229c.C3277Tp.R1093C18.678.436E-6Granata2024 E
ADCY9     Granata2024:A054chr16:
4027479-4027479		GAintronic-9.995E-5Granata2024 E
HIVEP3     Granata2024:A044chr1:
42048869-42048869		GCexonicnonsynonymous SNVNM_001127714
NM_024503		c.C1600G
c.C1600G		p.P534A
p.P534A		13.155.0E-4Granata2024 E
SCN9A     Granata2024:A046chr2:
167089942-167089942		GCexonicnonsynonymous SNVNM_002977c.C3799Gp.L1267V19.920.0014Granata2024 E
TBC1D9B     Granata2024:A051chr5:
179320359-179320359		GCexonicnonsynonymous SNVNM_015043
NM_198868		c.C686G
c.C686G		p.S229C
p.S229C		25.70.0049Granata2024 E
WDFY3     Granata2024:A082chr4:
85678321-85678321		GCintronic-6.0E-4Granata2024 E
B3GNT8     Granata2024:A001chr19:
41932127-41932127		GAexonicnonsynonymous SNVNM_198540c.C557Tp.S186F19.80.0027Granata2024 E
PPP2R1B     Granata2024:A002chr11:
111613299-111613299		GAexonicnonsynonymous SNVNM_001177563
NM_181700
NM_001177562
NM_002716
NM_181699		c.C1264T
c.C1453T
c.C1510T
c.C1645T
c.C1645T		p.R422C
p.R485C
p.R504C
p.R549C
p.R549C		32.01.0E-4Granata2024 E
FAT1     Granata2024:A005chr4:
187540958-187540958		GAexonicnonsynonymous SNVNM_005245c.C6782Tp.T2261M13.239.0E-4Granata2024 E
AHDC1     Granata2024:A008chr1:
27873916-27873916		GAexonicnonsynonymous SNVNM_001029882c.C4711Tp.P1571S16.21-Granata2024 E
COL16A1     Granata2024:A084chr1:
32164194-32164194		GAexonicnonsynonymous SNVNM_001856c.C280Tp.R94W15.766.0E-4Granata2024 E
PDE4DIP     Granata2024:A094chr1:
144868098-144868098		GAexonicnonsynonymous SNVNM_001198834
NM_014644
NM_001198832		c.C5341T
c.C5341T
c.C5023T		p.L1781F
p.L1781F
p.L1675F		9.3412.0E-4Granata2024 E
PDE4DIP     Granata2024:A094chr1:
144921972-144921972		GAexonicnonsynonymous SNVNM_001002811
NM_001002812
NM_001198834
NM_014644
NM_001198832		c.C1546T
c.C1057T
c.C1057T
c.C1057T
c.C1255T		p.L516F
p.L353F
p.L353F
p.L353F
p.L419F		20.41.0E-4Granata2024 E
TRIM35     Granata2024:A095chr8:
27145270-27145270		GAexonicnonsynonymous SNVNM_171982c.C1279Tp.R427C21.13.0E-4Granata2024 E
TRIM35     Granata2024:A095chr8:
27145542-27145542		GAexonicnonsynonymous SNVNM_171982c.C1007Tp.P336L29.48.437E-6Granata2024 E
CSMD1     Granata2024:A100chr8:
3443696-3443696		GAexonicnonsynonymous SNVNM_033225c.C1184Tp.T395M6.9436.29E-5Granata2024 E
SYNE1     Granata2024:A109chr6:
152615165-152615165		GAexonicnonsynonymous SNVNM_033071
NM_182961		c.C17567T
c.C17780T		p.P5856L
p.P5927L		12.664.12E-5Granata2024 E
GEMIN4     Granata2024:A118chr17:
648438-648438		GAexonicnonsynonymous SNVNM_015721c.C2845Tp.R949C9.8526.0E-4Granata2024 E
SYNE1     Granata2024:A055chr6:
152730222-152730222		GAexonicnonsynonymous SNVNM_033071
NM_182961		c.C6542T
c.C6521T		p.T2181I
p.T2174I		9.7460.0011Granata2024 E
EPPK1     Granata2024:A068chr8:
144941529-144941529		GAexonicnonsynonymous SNVNM_031308c.C5893Tp.R1965W16.342.0E-4Granata2024 E
CASZ1     Granata2024:A068chr1:
10720254-10720254		GAexonicnonsynonymous SNVNM_001079843
NM_017766		c.C845T
c.C845T		p.T282M
p.T282M		14.380.0082Granata2024 E
AGBL4     Granata2024:A071chr1:
50489509-50489509		GAUTR5-8.0E-4Granata2024 E
AGBL4     Granata2024:A072chr1:
50489509-50489509		GAUTR5-8.0E-4Granata2024 E
AGBL4     Granata2024:A073chr1:
50489509-50489509		GAUTR5-8.0E-4Granata2024 E
RHBDD3     Granata2024:A079chr22:
29656330-29656330		GAexonicnonsynonymous SNVNM_012265c.C968Tp.S323F23.75.648E-5Granata2024 E
COL16A1     Granata2024:A084chr1:
32122663-32122663		GAexonicnonsynonymous SNVNM_001856c.C4027Tp.P1343S13.984.14E-5Granata2024 E
PTPRB     Granata2024:A014chr12:
70974842-70974842		CTexonicnonsynonymous SNVNM_001206971
NM_001206972
NM_002837
NM_001109754		c.G1628A
c.G1898A
c.G1898A
c.G2552A		p.R543Q
p.R633Q
p.R633Q
p.R851Q		25.32.0E-4Granata2024 E
USH2A     Granata2024:A015chr1:
215808003-215808003		CTexonicnonsynonymous SNVNM_206933c.G15095Ap.S5032N9.9234.118E-5Granata2024 E
EIF4ENIF1     Granata2024:A033chr22:
31867903-31867903		CTexonicnonsynonymous SNVNM_001164501
NM_001164502
NM_019843		c.G97A
c.G97A
c.G97A		p.E33K
p.E33K
p.E33K		33.00.0038Granata2024 E
EPPK1     Granata2024:A038chr8:
144942321-144942321		CTexonicnonsynonymous SNVNM_031308c.G5101Ap.V1701M16.630.0067Granata2024 E
TAF1C     Granata2024:A041chr16:
84213254-84213254		CTexonicnonsynonymous SNVNM_001243158
NM_001243157
NM_001243160
NM_001243159
NM_005679
NM_001243156
NM_139353		c.G907A
c.G907A
c.G472A
c.G676A
c.G1903A
c.G1825A
c.G1621A		p.G303S
p.G303S
p.G158S
p.G226S
p.G635S
p.G609S
p.G541S		10.620.0056Granata2024 E
CNGB3     Granata2024:A045chr8:
87638210-87638210		CTsplicingsplicing27.24.362E-5Granata2024 E
CNGB3     Granata2024:A045chr8:
87738778-87738778		CTexonicnonsynonymous SNVNM_019098c.G319Ap.G107R7.7945.0E-4Granata2024 E
SCN9A     Granata2024:A046chr2:
167129240-167129240		CTexonicnonsynonymous SNVNM_002977c.G2987Ap.R996H0.4772.0E-4Granata2024 E
GEMIN4     Granata2024:A118chr17:
650471-650471		GAexonicnonsynonymous SNVNM_015721c.C812Tp.T271M12.344.973E-5Granata2024 E
DST     Granata2024:A120chr6:
56362659-56362659		GAexonicnonsynonymous SNVNM_015548
NM_183380
NM_001144770
NM_001144769		c.C12220T
c.C13198T
c.C13318T
c.C13732T		p.R4074C
p.R4400C
p.R4440C
p.R4578C		15.859.259E-6Granata2024 E
DST     Granata2024:A120chr6:
56515753-56515753		GAexonicnonsynonymous SNVNM_183380
NM_001144770
NM_001144769		c.C772T
c.C892T
c.C1306T		p.P258S
p.P298S
p.P436S		18.558.303E-6Granata2024 E
PPP2R1B     Granata2024:A002chr11:
111635566-111635566		CTexonicnonsynonymous SNVNM_001177562
NM_001177563
NM_002716
NM_181699		c.G269A
c.G269A
c.G269A
c.G269A		p.G90D
p.G90D
p.G90D
p.G90D		6.4090.0063Granata2024 E
FAT1     Granata2024:A005chr4:
187628419-187628419		CTexonicnonsynonymous SNVNM_005245c.G2563Ap.G855R16.450.0022Granata2024 E
AHDC1     Granata2024:A008chr1:
27874627-27874627		CTexonicnonsynonymous SNVNM_001029882c.G4000Ap.G1334S0.6074.0E-4Granata2024 E
NSUN2     Granata2024:A009chr5:
6632711-6632711		CTsplicingsplicing15.99-Granata2024 E
RANGAP1     Granata2024:A012chr22:
41657563-41657563		CTexonicnonsynonymous SNVNM_002883
NM_001278651		c.G502A
c.G502A		p.E168K
p.E168K		22.01.649E-5Granata2024 E
HECTD4     Granata2024:A077chr12:
112607364-112607364		CTexonicnonsynonymous SNVNM_001109662c.G11749Ap.G3917S18.24-Granata2024 E
PASK     Granata2024:A084chr2:
242066754-242066754		CTexonicnonsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.G1576A
c.G1471A
c.G1576A
c.G1576A
c.G1576A		p.G526R
p.G491R
p.G526R
p.G526R
p.G526R		7.1931.0E-4Granata2024 E
LILRB2     Granata2024:A103chr19:
54782682-54782682		CTexonicnonsynonymous SNVNM_001278404
NM_001278405
NM_001278406
NM_001080978
NM_001278403
NM_005874		c.G592A
c.G940A
c.G940A
c.G940A
c.G940A
c.G940A		p.D198N
p.D314N
p.D314N
p.D314N
p.D314N
p.D314N		19.060.0047Granata2024 E
SPTBN5     Granata2024:A117chr15:
42148769-42148769		CTexonicnonsynonymous SNVNM_016642c.G8836Ap.E2946K14.923.165E-5Granata2024 E
SYNE1     Granata2024:A128chr6:
152646425-152646425		CTexonicnonsynonymous SNVNM_033071
NM_182961		c.G15238A
c.G15451A		p.V5080M
p.V5151M		6.0130.001Granata2024 E
SYNE1     Granata2024:A128chr6:
152751696-152751696		CTexonicnonsynonymous SNVNM_033071
NM_182961		c.G4631A
c.G4610A		p.R1544Q
p.R1537Q		12.970.002Granata2024 E
PTPRB     Granata2024:A014chr12:
70989934-70989934		CGexonicnonsynonymous SNVNM_001206971
NM_001206972
NM_002837
NM_001109754		c.G499C
c.G499C
c.G499C
c.G1153C		p.E167Q
p.E167Q
p.E167Q
p.E385Q		3.223-Granata2024 E
GRIN2A     Granata2024:A019chr16:
9858502-9858502		CGexonicnonsynonymous SNVNM_001134407
NM_001134408
NM_000833		c.G2899C
c.G2899C
c.G2899C		p.V967L
p.V967L
p.V967L		0.8820.0057Granata2024 E
ANKMY1     Granata2024:A051chr2:
241451419-241451419		CTsplicingsplicing3.747-Granata2024 E
TBC1D9B     Granata2024:A051chr5:
179298491-179298491		CTexonicnonsynonymous SNVNM_015043
NM_198868		c.G2455A
c.G2455A		p.E819K
p.E819K		35.00.0025Granata2024 E
IQGAP3     Granata2024:A052chr1:
156509165-156509165		CTsplicingsplicing11.81-Granata2024 E
PNPLA7     Granata2024:A053chr9:
140391671-140391671		CTexonicnonsynonymous SNVNM_152286
NM_001098537		c.G1906A
c.G1981A		p.G636R
p.G661R		19.73.358E-5Granata2024 E
PNPLA7     Granata2024:A053chr9:
140396157-140396157		CTexonicnonsynonymous SNVNM_152286
NM_001098537		c.G1421A
c.G1496A		p.R474Q
p.R499Q		14.05.0E-4Granata2024 E
SYNE1     Granata2024:A055chr6:
152749494-152749494		CTexonicnonsynonymous SNVNM_033071
NM_182961		c.G4843A
c.G4822A		p.A1615T
p.A1608T		10.58.0E-4Granata2024 E
RNF19A     Granata2024:A062chr8:
101277003-101277003		CTexonicnonsynonymous SNVNM_183419
NM_001280539
NM_015435		c.G1202A
c.G1202A
c.G1202A		p.R401H
p.R401H
p.R401H		31.00.0017Granata2024 E
EPPK1     Granata2024:A068chr8:
144942321-144942321		CTexonicnonsynonymous SNVNM_031308c.G5101Ap.V1701M16.630.0067Granata2024 E
AGBL4     Granata2024:A071chr1:
50317124-50317124		CAexonicnonsynonymous SNVNM_032785c.G101Tp.G34V17.546.0E-4Granata2024 E
AGBL4     Granata2024:A072chr1:
50317124-50317124		CAexonicnonsynonymous SNVNM_032785c.G101Tp.G34V17.546.0E-4Granata2024 E
AGBL4     Granata2024:A073chr1:
50317124-50317124		CAexonicnonsynonymous SNVNM_032785c.G101Tp.G34V17.546.0E-4Granata2024 E
MTUS1     Granata2024:A074chr8:
17613005-17613005		CAexonicnonsynonymous SNVNM_001001924
NM_001001925		c.G312T
c.G312T		p.Q104H
p.Q104H		13.494.0E-4Granata2024 E
FBXO33     Granata2024:A013chr14:
39901351-39901351		ATexonicnonsynonymous SNVNM_203301c.T16Ap.S6T18.890.0016Granata2024 E
EPPK1     Granata2024:A038chr8:
144941229-144941229		ATexonicnonsynonymous SNVNM_031308c.T6193Ap.Y2065N14.220.0024Granata2024 E
ACRBP     Granata2024:A001chr12:
6754430-6754430		AGexonicnonsynonymous SNVNM_032489c.T431Cp.V144A10.2-Granata2024 E
DST     Granata2024:A024chr6:
56482923-56482923		AGexonicnonsynonymous SNVNM_001723c.T5909Cp.F1970S19.940.0048Granata2024 E
AGAP2     Granata2024:A049chr12:
58131064-58131064		CGexonicnonsynonymous SNVNM_001122772c.G966Cp.E322D12.971.758E-5Granata2024 E
PDE4DIP     Granata2024:A052chr1:
144922261-144922261		CGexonicnonsynonymous SNVNM_001002811
NM_001002812
NM_001198834
NM_014644
NM_001198832		c.G1396C
c.G907C
c.G907C
c.G907C
c.G1105C		p.V466L
p.V303L
p.V303L
p.V303L
p.V369L		18.07-Granata2024 E
DST     Granata2024:A070chr6:
56480731-56480731		CGexonicnonsynonymous SNVNM_001723c.G7534Cp.G2512R9.6178.241E-6Granata2024 E
ARHGEF11     Granata2024:A080chr1:
156918184-156918184		CGexonicnonsynonymous SNVNM_014784
NM_198236		c.G1912C
c.G2032C		p.D638H
p.D678H		28.08.238E-6Granata2024 E
SYNE1     Granata2024:A109chr6:
152658030-152658030		CGexonicnonsynonymous SNVNM_033071
NM_182961		c.G12261C
c.G12474C		p.R4087S
p.R4158S		15.031.647E-5Granata2024 E
SEC31B     Granata2024:A024chr10:
102257890-102257890		CAexonicstopgainNM_015490c.G1759Tp.E587X38.03.0E-4Granata2024 E
PRDM15     Granata2024:A029chr21:
43298922-43298922		CAexonicnonsynonymous SNVNM_022115c.G295Tp.G99C14.781.0E-4Granata2024 E
ANK3     Granata2024:A052chr10:
61819543-61819543		CAexonicnonsynonymous SNVNM_001149
NM_001204403
NM_001204404		c.G2380T
c.G4960T
c.G4981T		p.D794Y
p.D1654Y
p.D1661Y		17.210.0038Granata2024 E
B3GNT8     Granata2024:A001chr19:
41932474-41932474		ACexonicnonsynonymous SNVNM_198540c.T210Gp.F70L4.3860.0013Granata2024 E
RANGAP1     Granata2024:A012chr22:
41650417-41650420		TTCCTexonicnonframeshift deletionNM_002883
NM_001278651		c.1152_1154del
c.1152_1154del		p.384_385del
p.384_385del		-0.0014Granata2024 E
RHBDD3     Granata2024:A079chr22:
29659843-29659844		GCGexonicframeshift deletionNM_012265c.512delGp.G171fs-0.0024Granata2024 E
ACRBP     Granata2024:A001chr12:
6748141-6748142		CACexonicframeshift deletionNM_032489c.1487delTp.L496fs--Granata2024 E
CACNA1G     Granata2024:A011chr17:
48673943-48673943		ACexonicnonsynonymous SNVNM_001256332
NM_198376
NM_198379
NM_198382
NM_198383
NM_198387
NM_198388
NM_198396
NM_001256324
NM_001256325
NM_001256326
NM_001256327
NM_001256328
NM_001256329
NM_001256330
NM_001256331
NM_001256333
NM_001256334
NM_001256359
NM_001256360
NM_001256361
NM_018896
NM_198377
NM_198378
NM_198380
NM_198384
NM_198385
NM_198386		c.A2931C
c.A2931C
c.A2931C
c.A2931C
c.A2931C
c.A2931C
c.A2931C
c.A2931C
c.A3000C
c.A3000C
c.A3000C
c.A3000C
c.A3000C
c.A3000C
c.A3000C
c.A3000C
c.A3000C
c.A3000C
c.A3000C
c.A3000C
c.A3000C
c.A3000C
c.A3000C
c.A3000C
c.A3000C
c.A3000C
c.A3000C
c.A3000C		p.E977D
p.E977D
p.E977D
p.E977D
p.E977D
p.E977D
p.E977D
p.E977D
p.E1000D
p.E1000D
p.E1000D
p.E1000D
p.E1000D
p.E1000D
p.E1000D
p.E1000D
p.E1000D
p.E1000D
p.E1000D
p.E1000D
p.E1000D
p.E1000D
p.E1000D
p.E1000D
p.E1000D
p.E1000D
p.E1000D
p.E1000D		3.7849.13E-5Granata2024 E
SPEN     Granata2024:A020chr1:
16262465-16262465		ACexonicnonsynonymous SNVNM_015001c.A9730Cp.T3244P0.0170.0996Granata2024 E
WDFY4     Granata2024:A037chr10:
49982638-49982638		ACexonicnonsynonymous SNVNM_020945c.A2689Cp.S897R7.2534.854E-5Granata2024 E
FOCAD     Granata2024:A112chr9:
20981487-20981487		ACexonicnonsynonymous SNVNM_017794c.A4440Cp.E1480D8.626-Granata2024 E
REEP4     Granata2024:A029chr8:
21997751-21997751		AGexonicnonsynonymous SNVNM_001316964
NM_001316965
NM_025232		c.T116C
c.T116C
c.T116C		p.M39T
p.M39T
p.M39T		19.968.269E-6Granata2024 E
AGAP2     Granata2024:A049chr12:
58128166-58128166		AGexonicnonsynonymous SNVNM_001122772
NM_014770		c.T1337C
c.T329C		p.M446T
p.M110T		15.820.0023Granata2024 E
CASZ1     Granata2024:A068chr1:
10720305-10720305		AGexonicnonsynonymous SNVNM_001079843
NM_017766		c.T794C
c.T794C		p.V265A
p.V265A		0.0030.0073Granata2024 E
MTUS1     Granata2024:A074chr8:
17611662-17611662		AGexonicnonsynonymous SNVNM_001001924
NM_001001925		c.T1655C
c.T1655C		p.V552A
p.V552A		0.0039.937E-5Granata2024 E
CSMD1     Granata2024:A100chr8:
3432593-3432593		AGintronic--Granata2024 E
SYNE1     Granata2024:A109chr6:
152457799-152457799		AGexonicnonsynonymous SNVNM_033071
NM_182961		c.T25469C
c.T25613C		p.L8490P
p.L8538P		26.82.474E-5Granata2024 E
SYNE1     Granata2024:A109chr6:
152686105-152686105		AGexonicnonsynonymous SNVNM_033071
NM_182961		c.T10043C
c.T10022C		p.V3348A
p.V3341A		14.510.0025Granata2024 E
SPTBN5     Granata2024:A117chr15:
42175257-42175257		AGexonicnonsynonymous SNVNM_016642c.T1829Cp.L610P18.183.222E-5Granata2024 E
ABCA13     Granata2024:A070chr7:
48337999-48337999		AGexonicnonsynonymous SNVNM_152701c.A9236Gp.K3079R0.9488.715E-6Granata2024 E
STXBP5     Granata2024:A071chr6:
147599289-147599289		AGexonicnonsynonymous SNVNM_001127715
NM_139244		c.A787G
c.A787G		p.I263V
p.I263V		11.463.0E-4Granata2024 E
STXBP5     Granata2024:A071chr6:
147636753-147636753		AGexonicnonsynonymous SNVNM_001127715
NM_139244		c.A1505G
c.A1505G		p.Y502C
p.Y502C		16.240.0036Granata2024 E
ACTR5     Granata2024:A076chr20:
37400332-37400332		AGexonicnonsynonymous SNVNM_024855c.A1697Gp.K566R16.031.649E-5Granata2024 E
BSN     Granata2024:A079chr3:
49691574-49691574		AGexonicnonsynonymous SNVNM_003458c.A4585Gp.M1529V11.615.769E-5Granata2024 E
SPAST     Granata2024:A080chr2:
32289319-32289319		AGintronic--Granata2024 E
SMYD1     Granata2024:A093chr2:
88407997-88407997		AGexonicnonsynonymous SNVNM_198274c.A1253Gp.K418R11.23.0E-4Granata2024 E
GALNT8     Granata2024:A096chr12:
4829994-4829994		AGexonicnonsynonymous SNVNM_017417c.A151Gp.K51E0.017-Granata2024 E
L3MBTL1     Granata2024:A011chr20:
42164548-42164548		AGexonicnonsynonymous SNVNM_015478
NM_032107		c.A1627G
c.A1831G		p.R543G
p.R611G		19.256.669E-5Granata2024 E
STARD9     Granata2024:A011chr15:
42877759-42877759		AGexonicnonsynonymous SNVNM_020759c.A158Gp.K53R15.594.0E-4Granata2024 E
YLPM1     Granata2024:A021chr14:
75276434-75276434		AGexonicnonsynonymous SNVNM_019589c.A4873Gp.M1625V7.9918.292E-6Granata2024 E
WDFY4     Granata2024:A037chr10:
50019653-50019653		AGexonicnonsynonymous SNVNM_020945c.A5114Gp.N1705S3.1744.458E-5Granata2024 E
LRP1     Granata2024:A051chr12:
57577550-57577550		AGintronic--Granata2024 E
SIDT2     Granata2024:A051chr11:
117060989-117060989		AGexonicnonsynonymous SNVNM_001040455c.A1601Gp.N534S18.093.0E-4Granata2024 E
CGNL1     Granata2024:A066chr15:
57734575-57734575		AGexonicnonsynonymous SNVNM_032866
NM_001252335		c.A1702G
c.A1702G		p.T568A
p.T568A		0.1098.0E-4Granata2024 E
CGNL1     Granata2024:A066chr15:
57820861-57820861		AGexonicnonsynonymous SNVNM_032866
NM_001252335		c.A3049G
c.A3049G		p.M1017V
p.M1017V		9.3940.0041Granata2024 E
UNC80     Granata2024:A035chr2:
210835634-210835634		CAexonicnonsynonymous SNVNM_032504
NM_182587		c.C8011A
c.C7996A		p.L2671M
p.L2666M		16.54-Granata2024 E
LRP1     Granata2024:A051chr12:
57588880-57588880		CAexonicnonsynonymous SNVNM_002332c.C8304Ap.H2768Q7.582-Granata2024 E
ZSCAN21     Granata2024:A051chr7:
99654762-99654762		CAexonicnonsynonymous SNVNM_145914c.C133Ap.R45S18.851.649E-5Granata2024 E
RAI1     Granata2024:A110chr17:
17699201-17699201		CAexonicnonsynonymous SNVNM_030665c.C2939Ap.A980D13.398.687E-6Granata2024 E
EP400     Granata2024:A034chr12:
132549297-132549297		CGexonicnonsynonymous SNVNM_015409c.C8419Gp.P2807A13.548.418E-6Granata2024 E
KDM6B     Granata2024:A057chr17:
7752244-7752244		CGexonicnonsynonymous SNVNM_001080424c.C2638Gp.R880G9.0225.0E-4Granata2024 E
KDM6B     Granata2024:A125chr17:
7752083-7752083		CGexonicnonsynonymous SNVNM_001080424c.C2477Gp.S826C12.475.096E-5Granata2024 E
CAPN9     Granata2024:A007chr1:
230910305-230910305		CTexonicnonsynonymous SNVNM_006615c.C881Tp.P294L6.9658.243E-5Granata2024 E
GALNT8     Granata2024:A096chr12:
4870191-4870191		AGexonicnonsynonymous SNVNM_017417c.A1241Gp.H414R11.29-Granata2024 E
ANK2     Granata2024:A116chr4:
114278753-114278753		AGexonicnonsynonymous SNVNM_001148c.A8979Gp.I2993M5.6982.0E-4Granata2024 E
ZNF462     Granata2024:A125chr9:
109691270-109691270		AGexonicnonsynonymous SNVNM_021224c.A5077Gp.K1693E20.7-Granata2024 E
ABCA13     Granata2024:A111chr7:
48378050-48378050		ATexonicnonsynonymous SNVNM_152701c.A10202Tp.Y3401F12.48-Granata2024 E
ABCA13     Granata2024:A111chr7:
48563992-48563992		ATexonicnonsynonymous SNVNM_152701c.A14200Tp.I4734F8.0445.079E-5Granata2024 E
FOCAD     Granata2024:A112chr9:
20933032-20933032		ATexonicnonsynonymous SNVNM_017794c.A3337Tp.M1113L8.655-Granata2024 E
PTK7     Granata2024:A005chr6:
43044707-43044707		CAexonicnonsynonymous SNVNM_001270398c.C86Ap.P29H6.5240.0026Granata2024 E
DHODH     Granata2024:A011chr16:
72057381-72057381		CAexonicnonsynonymous SNVNM_001361c.C982Ap.P328T20.7-Granata2024 E
SIDT2     Granata2024:A051chr11:
117063891-117063891		CTexonicnonsynonymous SNVNM_001040455c.C2128Tp.R710C23.80.0016Granata2024 E
SH3TC1     Granata2024:A051chr4:
8229105-8229105		CTexonicnonsynonymous SNVNM_018986c.C1684Tp.L562F14.770.0012Granata2024 E
FHDC1     Granata2024:A053chr4:
153895896-153895896		CTexonicnonsynonymous SNVNM_033393c.C1453Tp.R485C10.461.0E-4Granata2024 E
KDM6B     Granata2024:A057chr17:
7751531-7751531		CTexonicnonsynonymous SNVNM_001080424c.C1925Tp.P642L6.7190.004Granata2024 E
ABCA13     Granata2024:A070chr7:
48563977-48563977		CTexonicnonsynonymous SNVNM_152701c.C14185Tp.R4729C9.1094.0E-4Granata2024 E
DDX20     Granata2024:A079chr1:
112302037-112302037		CTexonicnonsynonymous SNVNM_007204c.C412Tp.P138S23.71.66E-5Granata2024 E
BSN     Granata2024:A079chr3:
49698534-49698534		CTexonicnonsynonymous SNVNM_003458c.C9256Tp.P3086S2.436-Granata2024 E
RABGAP1L     Granata2024:A080chr1:
174957893-174957893		CTexonicnonsynonymous SNVNM_001243764
NM_001243765		c.C527T
c.C878T		p.S176L
p.S293L		16.91-Granata2024 E
B4GALT2     Granata2024:A008chr1:
44450592-44450592		CTexonicnonsynonymous SNVNM_001005417
NM_003780
NM_030587		c.C605T
c.C605T
c.C692T		p.A202V
p.A202V
p.A231V		23.32.474E-5Granata2024 E
PTPRF     Granata2024:A008chr1:
44044547-44044547		CTexonicnonsynonymous SNVNM_002840
NM_130440		c.C635T
c.C635T		p.S212L
p.S212L		21.01.652E-5Granata2024 E
CC2D1A     Granata2024:A009chr19:
14024269-14024269		CTexonicnonsynonymous SNVNM_017721c.C566Tp.A189V10.620.0067Granata2024 E
MAML1     Granata2024:A011 Complex Event; expand row to view variants  nonsynonymous SNVNM_014757
NM_014757		c.C2002T
c.G2003A		p.R668C
p.R668H		22.75.768E-5Granata2024 E
Granata2024 E
SLC12A3     Granata2024:A013chr16:
56918086-56918086		CTexonicnonsynonymous SNVNM_000339
NM_001126107
NM_001126108		c.C1795T
c.C1792T
c.C1795T		p.L599F
p.L598F
p.L599F		20.49.902E-5Granata2024 E
MS4A18     Granata2024:A021chr11:
60497102-60497102		CTexonicnonsynonymous SNVNM_001310141c.C314Tp.T105M13.47-Granata2024 E
EP400     Granata2024:A034chr12:
132471186-132471186		CTexonicnonsynonymous SNVNM_015409c.C2057Tp.S686F6.0745.767E-5Granata2024 E
TBC1D24     Granata2024:A050chr16:
2550333-2550333		CTexonicnonsynonymous SNVNM_020705
NM_001199107		c.C1349T
c.C1367T		p.P450L
p.P456L		3.7119.918E-5Granata2024 E
CIC     Granata2024:A021chr19:
42776354-42776354		GAexonicnonsynonymous SNVNM_001304815c.G419Ap.R140Q--Granata2024 E
PDZD2     Granata2024:A024chr5:
32088082-32088082		GAexonicnonsynonymous SNVNM_178140c.G4528Ap.D1510N18.722.0E-4Granata2024 E
PREX2     Granata2024:A025chr8:
69012011-69012011		GAexonicnonsynonymous SNVNM_024870
NM_025170		c.G2648A
c.G2648A		p.S883N
p.S883N		14.47-Granata2024 E
PREX2     Granata2024:A025chr8:
69033204-69033204		GAexonicnonsynonymous SNVNM_024870c.G3644Ap.R1215Q12.046.0E-4Granata2024 E
UNC80     Granata2024:A035chr2:
210636895-210636895		GAintronic-0.0021Granata2024 E
TBC1D24     Granata2024:A050chr16:
2550377-2550377		GAexonicnonsynonymous SNVNM_020705
NM_001199107		c.G1393A
c.G1411A		p.A465T
p.A471T		0.8472.0E-4Granata2024 E
ZSCAN21     Granata2024:A051chr7:
99661614-99661614		GAexonicnonsynonymous SNVNM_145914c.G796Ap.V266I9.6652.0E-4Granata2024 E
FHDC1     Granata2024:A053chr4:
153897297-153897297		GAexonicnonsynonymous SNVNM_033393c.G2854Ap.A952T0.644-Granata2024 E
EP400     Granata2024:A109chr12:
132549277-132549277		CTexonicnonsynonymous SNVNM_015409c.C8399Tp.A2800V15.192.52E-5Granata2024 E
ARID1B     Granata2024:A120chr6:
157488325-157488325		CTintronic-0.0038Granata2024 E
ZNF462     Granata2024:A125chr9:
109689693-109689693		CTexonicnonsynonymous SNVNM_021224c.C3500Tp.P1167L11.738.315E-6Granata2024 E
OTOP3     Granata2024:A001chr17:
72937568-72937568		GAexonicnonsynonymous SNVNM_001272005
NM_178233		c.G100A
c.G154A		p.V34M
p.V52M		1.6817.174E-5Granata2024 E
PTK7     Granata2024:A005chr6:
43100282-43100282		GAexonicnonsynonymous SNVNM_001270398
NM_002821
NM_152880
NM_152881
NM_152882		c.G1109A
c.G1085A
c.G1085A
c.G1085A
c.G1085A		p.R370Q
p.R362Q
p.R362Q
p.R362Q
p.R362Q		11.171.0E-4Granata2024 E
L3MBTL1     Granata2024:A011chr20:
42159462-42159462		GAexonicstopgainNM_015478
NM_032107		c.G947A
c.G1151A		p.W316X
p.W384X		40.02.0E-4Granata2024 E
DHODH     Granata2024:A011chr16:
72057077-72057077		GAexonicnonsynonymous SNVNM_001361c.G833Ap.G278E21.32.488E-5Granata2024 E
MS4A18     Granata2024:A021chr11:
60497118-60497118		GAexonicstopgainNM_001310141c.G330Ap.W110X13.35-Granata2024 E
CES3     Granata2024:A102chr16:
66997784-66997784		GAexonicnonsynonymous SNVNM_001185177
NM_024922		c.G506A
c.G506A		p.G169E
p.G169E		4.453.0E-4Granata2024 E
EP400     Granata2024:A103chr12:
132497581-132497581		GAexonicnonsynonymous SNVNM_015409c.G3469Ap.V1157I14.670.0029Granata2024 E
RAI1     Granata2024:A110chr17:
17696393-17696393		GAexonicnonsynonymous SNVNM_030665c.G131Ap.R44Q23.61.0E-4Granata2024 E
LLGL1     Granata2024:A111chr17:
18136106-18136106		GAexonicnonsynonymous SNVNM_004140c.G382Ap.D128N18.99-Granata2024 E
LLGL1     Granata2024:A111chr17:
18136053-18136053		GAexonicnonsynonymous SNVNM_004140c.G329Ap.C110Y1.8518.246E-6Granata2024 E
ANK2     Granata2024:A116chr4:
114163351-114163351		GAexonicnonsynonymous SNVNM_001148
NM_020977
NM_001127493		c.G877A
c.G877A
c.G814A		p.D293N
p.D293N
p.D272N		24.41.0E-4Granata2024 E
TSC2     Granata2024:A124chr16:
2112558-2112558		GAexonicnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G1318A
c.G1318A
c.G1318A		p.G440S
p.G440S
p.G440S		21.38.0E-4Granata2024 E
TSC2     Granata2024:A124chr16:
2138565-2138565		GAexonicnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.G5177A
c.G5309A
c.G5378A		p.R1726Q
p.R1770Q
p.R1793Q		23.79.34E-5Granata2024 E
ESPL1     Granata2024:A054chr12:
53670549-53670549		GAexonicnonsynonymous SNVNM_012291c.G1846Ap.E616K36.02.515E-5Granata2024 E
ACTR5     Granata2024:A076chr20:
37383735-37383735		GAexonicnonsynonymous SNVNM_024855c.G911Ap.R304Q36.08.456E-6Granata2024 E
ACTN4     Granata2024:A077chr19:
39214250-39214250		GAintronic-2.0E-4Granata2024 E
ACTN4     Granata2024:A077chr19:
39220016-39220016		GAexonicnonsynonymous SNVNM_004924c.G2680Ap.G894S14.850.0013Granata2024 E
DDX20     Granata2024:A079chr1:
112298571-112298571		GAexonicnonsynonymous SNVNM_007204c.G25Ap.G9R14.01-Granata2024 E
RABGAP1L     Granata2024:A080chr1:
174247814-174247814		GAexonicnonsynonymous SNVNM_014857c.G1220Ap.R407H34.0-Granata2024 E
SPPL2C     Granata2024:A100chr17:
43922783-43922783		GAexonicnonsynonymous SNVNM_175882c.G511Ap.V171I2.9522.485E-5Granata2024 E
CES3     Granata2024:A102chr16:
66997528-66997528		GAexonicnonsynonymous SNVNM_001185177
NM_024922		c.G422A
c.G422A		p.R141K
p.R141K		13.91-Granata2024 E
YLPM1     Granata2024:A021chr14:
75283937-75283937		GTexonicnonsynonymous SNVNM_019589c.G5903Tp.G1968V18.523.414E-5Granata2024 E
CIC     Granata2024:A021chr19:
42791012-42791012		GTexonicnonsynonymous SNVNM_015125
NM_001304815		c.G157T
c.G2884T		p.V53L
p.V962L		11.28-Granata2024 E
PDZD2     Granata2024:A024chr5:
32089062-32089062		GTexonicnonsynonymous SNVNM_178140c.G5508Tp.M1836I6.9328.265E-6Granata2024 E
SH3TC1     Granata2024:A051chr4:
8214464-8214464		GTexonicnonsynonymous SNVNM_018986c.G284Tp.S95I11.662.674E-5Granata2024 E
ESPL1     Granata2024:A054chr12:
53662856-53662856		GTexonicnonsynonymous SNVNM_012291c.G130Tp.A44S14.63-Granata2024 E
KIF15     Granata2024:A074chr3:
44843459-44843459		GTexonicnonsynonymous SNVNM_020242c.G1502Tp.R501L22.00.0029Granata2024 E
EP400     Granata2024:A109chr12:
132512776-132512776		GTexonicnonsynonymous SNVNM_015409c.G5324Tp.S1775I9.9247.0E-4Granata2024 E
PTPRF     Granata2024:A008chr1:
44069521-44069521		TAexonicnonsynonymous SNVNM_130440
NM_002840		c.T2671A
c.T2698A		p.L891M
p.L900M		7.335-Granata2024 E
KDM6B     Granata2024:A125chr17:
7753037-7753037		GAexonicnonsynonymous SNVNM_001080424c.G3431Ap.R1144H17.022.613E-5Granata2024 E
OTOP3     Granata2024:A001chr17:
72931913-72931913		GCexonicnonsynonymous SNVNM_178233c.G17Cp.R6P13.29-Granata2024 E
MMACHC     Granata2024:A007chr1:
45974856-45974856		GCexonicnonsynonymous SNVNM_015506c.G818Cp.R273T8.547-Granata2024 E
SLC12A3     Granata2024:A013chr16:
56899184-56899184		GCexonicnonsynonymous SNVNM_000339
NM_001126107
NM_001126108		c.G37C
c.G37C
c.G37C		p.A13P
p.A13P
p.A13P		0.0226.0E-4Granata2024 E
SPEN     Granata2024:A020chr1:
16264022-16264022		GCexonicnonsynonymous SNVNM_015001c.G10391Cp.G3464A11.720.0016Granata2024 E
MMACHC     Granata2024:A007chr1:
45973222-45973222		GTexonicnonsynonymous SNVNM_015506c.G276Tp.E92D16.1-Granata2024 E
CC2D1A     Granata2024:A009chr19:
14017064-14017064		GTUTR5--Granata2024 E
STARD9     Granata2024:A011chr15:
42982186-42982186		GTexonicnonsynonymous SNVNM_020759c.G8410Tp.A2804S14.991.0E-4Granata2024 E
ARID1B     Granata2024:A120chr6:
157099426-157099429		ACAGAexonicnonframeshift deletionNM_017519
NM_020732		c.364_366del
c.364_366del		p.122_122del
p.122_122del		-0.01Granata2024 E
CAPN9     Granata2024:A007chr1:
230903405-230903405		AATexonicframeshift insertionNM_006615
NM_016452		c.656dupT
c.656dupT		p.I219fs
p.I219fs		--Granata2024 E
CACNA1G     Granata2024:A011chr17:
48646346-48646348		AGTAintronic--Granata2024 E
CLDN34     Granata2024:A069chrX:
9936001-9936001		CAexonicnonsynonymous SNVNM_001195081c.C604Ap.P202T13.21-Granata2024 E
VEGFD     Granata2024:A014chrX:
15381416-15381416		CGexonicnonsynonymous SNVNM_004469c.G116Cp.R39P11.53-Granata2024 E
NEXMIF     Granata2024:A044chrX:
73961920-73961920		CAexonicnonsynonymous SNVNM_001008537c.G2472Tp.L824F12.6-Granata2024 E
ANOS1     Granata2024:A112chrX:
8536342-8536342		AGexonicnonsynonymous SNVNM_000216c.T1138Cp.W380R13.74-Granata2024 E
NEXMIF     Granata2024:A087chrX:
73962612-73962615		GCTTGexonicnonframeshift deletionNM_001008537c.1777_1779delp.593_593del-1.198E-5Granata2024 E
RANBP17     Granata2024:A130chr5:
170338070-170338070		TCexonicnonsynonymous SNVNM_022897c.T692Cp.I231T21.70.0027Granata2024 E
RANBP17     Granata2024:A130chr5:
170725839-170725839		TCexonicnonsynonymous SNVNM_022897c.T3244Cp.C1082R2.592-Granata2024 E
KIF15     Granata2024:A074chr3:
44893747-44893747		TGexonicnonsynonymous SNVNM_020242c.T4020Gp.N1340K21.1-Granata2024 E
EP400     Granata2024:A103chr12:
132547135-132547135		GGCAGCAAexonicnonframeshift insertionNM_015409c.8223_8224insCAGCAAp.Q2741delinsQQQ-1.0E-4Granata2024 E
B4GALT2     Granata2024:A008chr1:
44447006-44447006		TTAGCAGCexonicnonframeshift insertionNM_001005417
NM_003780
NM_030587		c.174_175insAGCAGC
c.174_175insAGCAGC
c.261_262insAGCAGC		p.A58delinsASS
p.A58delinsASS
p.A87delinsASS		-3.371E-5Granata2024 E
SPPL2C     Granata2024:A100chr17:
43923987-43923991		TAGACTexonicframeshift deletionNM_175882c.1716_1719delp.L572fs-1.649E-5Granata2024 E
SPAST     Granata2024:A080chr2:
32339901-32339902		TGTintronic-8.271E-6Granata2024 E
SMYD1     Granata2024:A093chr2:
88367399-88367401		ATGAexonicframeshift deletionNM_198274c.17_18delp.M6fs--Granata2024 E
MXRA5     Granata2024:A122chrX:
3235394-3235394		GTexonicnonsynonymous SNVNM_015419c.C6328Ap.R2110S17.81-Granata2024 E
SLC35A2     Granata2024:A008chrX:
48762165-48762165		GCexonicnonsynonymous SNVNM_001282649
NM_001032289
NM_001042498
NM_001282647
NM_001282648
NM_001282650
NM_005660
NM_001282651		c.C838G
c.C431G
c.C1021G
c.C431G
c.C359G
c.C1060G
c.C1021G
c.C1105G		p.P280A
p.S144C
p.P341A
p.S144C
p.S120C
p.P354A
p.P341A
p.P369A		19.731.23E-5Granata2024 E
UPF3B     Granata2024:A012chrX:
118972367-118972367		GAexonicnonsynonymous SNVNM_023010
NM_080632		c.C931T
c.C970T		p.R311C
p.R324C		18.763.423E-5Granata2024 E
AMER1     Granata2024:A022chrX:
63411912-63411912		GAexonicnonsynonymous SNVNM_152424c.C1255Tp.P419S0.012-Granata2024 E
MECP2     Granata2024:A033chrX:
153296119-153296119		GAexonicnonsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C1196T
c.C1160T
c.C881T		p.P399L
p.P387L
p.P294L		8.718.627E-5Granata2024 E
ABCB7     Granata2024:A115chrX:
74376098-74376098		GAexonicnonsynonymous SNVNM_001271696
NM_001271697
NM_001271698
NM_001271699
NM_004299		c.C10T
c.C10T
c.C10T
c.C10T
c.C10T		p.L4F
p.L4F
p.L4F
p.L4F
p.L4F		15.26-Granata2024 E
SOX3     Granata2024:A003chrX:
139586655-139586655		CTexonicnonsynonymous SNVNM_005634c.G571Ap.E191K29.1-Granata2024 E
CT83     Granata2024:A007chrX:
115592937-115592937		CTexonicnonsynonymous SNVNM_001017978c.G313Ap.G105S7.3881.141E-5Granata2024 E
SYN1     Granata2024:A054chrX:
47433604-47433604		TGexonicnonsynonymous SNVNM_006950
NM_133499		c.A1779C
c.A1779C		p.K593N
p.K593N		14.54-Granata2024 E
SYN1     Granata2024:A105chrX:
47433413-47433413		TGexonicnonsynonymous SNVNM_006950
NM_133499		c.A1970C
c.A1970C		p.H657P
p.H657P		12.5-Granata2024 E
Source Variant Information

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Paper Information
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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.
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