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Results for "Hu2022"

Variant Events: 110

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
RAB39B     Hu2022:4chrX:
154493531-154493531		CGexonicUnknownnonsynonymous SNVNM_171998c.G43Cp.G15R27.8-Hu2022 T
NF1     Hu2022:3chr17:
29552152-29552152		GAexonicDe novononsynonymous SNVNM_000267
NM_001042492		c.G1885A
c.G1885A		p.G629R
p.G629R		11.811.65E-5Hu2022 T
NDST1     Hu2022:4chr5:
149929268-149929268		GTexonicUnknownnonsynonymous SNVNM_001301063
NM_001543		c.G2174T
c.G2345T		p.R725L
p.R782L		27.61.676E-5Hu2022 T
NDST1     Hu2022:4chr5:
149907553-149907553		CTexonicUnknownnonsynonymous SNVNM_001301063
NM_001543		c.C701T
c.C701T		p.T234I
p.T234I		26.7-Hu2022 T
TRIP12     Hu2022:2chr2:
230744756-230744756		GAexonicDe novostopgainNM_001284215
NM_001284214
NM_001284216
NM_004238		c.C40T
c.C40T
c.C40T
c.C40T		p.R14X
p.R14X
p.R14X
p.R14X		37.0-Hu2022 T
SHANK3     Hu2022:1chr22:
51159988-51159988		CTexonicDe novostopgainNM_033517c.C3685Tp.Q1229X36.0-Hu2022 T
BRAF     Hu2022:9chr7:
140453146-140453146		GCexonicUnknownnonsynonymous SNVNM_004333c.C1789Gp.L597V17.26-Hu2022 T
MECP2     Hu2022:8chrX:
153296399-153296399		GAexonicUnknownstopgainNM_001110792
NM_004992
NM_001316337		c.C916T
c.C880T
c.C601T		p.R306X
p.R294X
p.R201X		32.0-Hu2022 T
KDM6B     Hu2022:11chr17:
7752386-7752400		GGGTGGGCCGGAGTGGexonicUnknownframeshift deletionNM_001080424c.2781_2794delp.R927fs--Hu2022 T
DIP2B     Hu2022:10chr12:
51128855-51128855		GAsplicingUnknownsplicing19.79-Hu2022 T
SLC26A4     Hu2022:6chr7:
107330645-107330645		GAexonicPaternalnonsynonymous SNVNM_000441c.G1226Ap.R409H29.61.0E-4Hu2022 T
TCF20     Hu2022:5chr22:
42608732-42608734		GAGGexonicDe novoframeshift deletionNM_181492
NM_005650		c.2578_2579del
c.2578_2579del		p.L860fs
p.L860fs		--Hu2022 T
SHANK3     Hu2022:7chr22:
51158732-51158732		CCCexonicDe novoframeshift insertionNM_033517c.2429dupCp.P810fs--Hu2022 T
SLC26A4     Hu2022:6chr7:
107350577-107350577		AGexonicMaternalnonsynonymous SNVNM_000441c.A2168Gp.H723R21.21.0E-4Hu2022 T
EHMT1     Hu2022:17chr9:
140678599-140678599		GAexonicMaternalstopgainNM_001145527c.G2424Ap.W808X14.03-Hu2022 T
AP1S2     Hu2022:16chrX:
15870644-15870644		GAexonicMaternalstopgainNM_001272071
NM_003916		c.C4T
c.C4T		p.Q2X
p.Q2X		39.0-Hu2022 T
ABCD1     Hu2022:18chrX:
152991143-152991143		CTexonicUnknownnonsynonymous SNVNM_000033c.C422Tp.A141V31.0-Hu2022 T
FGFR3     Hu2022:17chr4:
1807288-1807288		GAexonicMaternalnonsynonymous SNVNM_022965
NM_000142
NM_001163213		c.G1201A
c.G1537A
c.G1543A		p.D401N
p.D513N
p.D515N		12.095.012E-5Hu2022 T
STXBP1     Hu2022:13chr9:
130432187-130432187		CCCexonicMaternalframeshift insertionNM_001032221
NM_003165		c.913dupC
c.913dupC		p.R305fs
p.R305fs		--Hu2022 T
SCN2A     Hu2022:12chr2:
166201068-166201068		CTexonicUnknownstopgainNM_001040143
NM_001040142
NM_021007		c.C2566T
c.C2566T
c.C2566T		p.R856X
p.R856X
p.R856X		41.0-Hu2022 T
DEAF1     Hu2022:15chr11:
687941-687941		CTexonicMaternalnonsynonymous SNVNM_001293634
NM_021008		c.G634A
c.G634A		p.G212S
p.G212S		34.0-Hu2022 T
CHD8     Hu2022:14chr14:
21871817-21871818		CACexonicDe novoframeshift deletionNM_001170629
NM_020920		c.3312delT
c.2475delT		p.A1104fs
p.A825fs		--Hu2022 T
MECP2     Hu2022:24chrX:
153296399-153296399		GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337		c.C916T
c.C880T
c.C601T		p.R306X
p.R294X
p.R201X		32.0-Hu2022 T
ARID2     Hu2022:23chr12:
46244889-46244889		CTexonicDe novostopgainNM_152641c.C2983Tp.Q995X39.0-Hu2022 T
MYT1L     Hu2022:26chr2:
1891259-1891259		CTsplicingDe novosplicing18.58-Hu2022 T
MYT1L     Hu2022:25chr2:
1915838-1915838		AGexonicDe novononsynonymous SNVNM_001303052
NM_015025		c.T1663C
c.T1657C		p.C555R
p.C553R		25.4-Hu2022 T
DYRK1A     Hu2022:20chr21:
38865397-38865404		ATGTGGTCAexonicUnknownframeshift deletionNM_001396
NM_130436
NM_130438
NM_101395		c.1031_1037del
c.1004_1010del
c.1031_1037del
c.1031_1037del		p.M344fs
p.M335fs
p.M344fs
p.M344fs		--Hu2022 T
MYT1L     Hu2022:19chr2:
1890312-1890312		TTTexonicDe novoframeshift insertionNM_001303052
NM_015025		c.2710dupA
c.2704dupA		p.K904fs
p.K902fs		--Hu2022 T
BCL11A     Hu2022:22chr2:
60689252-60689254		CAGCexonicDe novoframeshift deletionNM_018014
NM_022893		c.793_794del
c.793_794del		p.L265fs
p.L265fs		--Hu2022 T
MYT1L     Hu2022:21chr2:
1915808-1915808		TCexonicDe novononsynonymous SNVNM_001303052
NM_015025		c.A1693G
c.A1687G		p.R565G
p.R563G		24.4-Hu2022 T
DCLRE1C     Hu2022:31chr10:
14981850-14981850		TCexonicUnknownnonsynonymous SNVNM_001033855c.A265Gp.T89A18.523.337E-5Hu2022 T
DCLRE1C     Hu2022:31chr10:
14976777-14976777		GAintronicUnknown--Hu2022 T
KIF1A     Hu2022:31chr2:
241702608-241702608		CTexonicUnknownnonsynonymous SNVNM_004321
NM_001244008		c.G1897A
c.G1924A		p.D633N
p.D642N		19.38-Hu2022 T
KANK1     Hu2022:31chr9:
712617-712618		GAGexonicUnknownframeshift deletionNM_153186
NM_015158
NM_001256877
NM_001256876		c.1378delA
c.1852delA
c.1852delA
c.1852delA		p.T460fs
p.T618fs
p.T618fs
p.T618fs		--Hu2022 T
SLC2A1     Hu2022:28chr1:
43395422-43395422		CTexonicUnknownnonsynonymous SNVNM_006516c.G709Ap.V237M21.2-Hu2022 T
SHANK3     Hu2022:27chr22:
51159726-51159728		CCTCexonicUnknownframeshift deletionNM_033517c.3424_3425delp.L1142fs--Hu2022 T
TRIO     Hu2022:30chr5:
14474205-14474205		GAexonicUnknownnonsynonymous SNVNM_007118c.G6082Ap.D2028N29.38.248E-6Hu2022 T
TRIO     Hu2022:29chr5:
14508475-14508475		CTexonicPaternalstopgainNM_007118c.C9238Tp.R3080X49.0-Hu2022 T
WDR81     Hu2022:36chr17:
1633670-1633670		GAintronicMaternal-5.024E-5Hu2022 T
SKI     Hu2022:36chr1:
2161179-2161179		GCintronicDe novo--Hu2022 T
MAOA     Hu2022:37chrX:
43552577-43552577		GAexonicMaternalnonsynonymous SNVNM_000240c.G208Ap.V70M12.69-Hu2022 T
WDR81     Hu2022:36chr17:
1636940-1636940		GAexonicPaternalnonsynonymous SNVNM_001163673
NM_001163809
NM_001163811
NM_152348		c.G1000A
c.G4609A
c.G928A
c.G1456A		p.G334S
p.G1537S
p.G310S
p.G486S		0.0165.298E-5Hu2022 T
KIF7     Hu2022:33chr15:
90172650-90172653		TTCTTexonicUnknownnonframeshift deletionNM_198525c.3470_3472delp.1157_1158del--Hu2022 T
SCN8A     Hu2022:32chr12:
52080904-52080904		ATexonicMaternalnonsynonymous SNVNM_001177984
NM_014191		c.A515T
c.A515T		p.E172V
p.E172V		27.7-Hu2022 T
MED13L     Hu2022:35chr12:
116418709-116418709		TCexonicUnknownnonsynonymous SNVNM_015335c.A5210Gp.K1737R16.01-Hu2022 T
SMARCA4     Hu2022:34chr19:
11105513-11105513		AGexonicDe novononsynonymous SNVNM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844		c.A1429G
c.A1429G
c.A1429G
c.A1429G
c.A1429G
c.A1429G
c.A1429G		p.N477D
p.N477D
p.N477D
p.N477D
p.N477D
p.N477D
p.N477D		21.9-Hu2022 T
PIGV     Hu2022:41chr1:
27121133-27121133		GTexonicUnknownnonsynonymous SNVNM_001202554
NM_017837		c.G608T
c.G608T		p.R203L
p.R203L		25.7-Hu2022 T
PIGV     Hu2022:41chr1:
27121024-27121024		GAexonicUnknownnonsynonymous SNVNM_001202554
NM_017837		c.G499A
c.G499A		p.G167S
p.G167S		14.184.942E-5Hu2022 T
HCFC1     Hu2022:43chrX:
153219744-153219744		AGexonicMaternalnonsynonymous SNVNM_005334c.T4106Cp.M1369T14.94-Hu2022 T
FOXP2     Hu2022:42chr7:
114174736-114174736		GCexonicUnknownnonsynonymous SNVNM_001172767
NM_148899
NM_001172766
NM_014491
NM_148898
NM_148900		c.G233C
c.G233C
c.G233C
c.G233C
c.G233C
c.G233C		p.S78T
p.S78T
p.S78T
p.S78T
p.S78T
p.S78T		10.64-Hu2022 T
NCAPD3     Hu2022:38chr11:
134051019-134051019		TCexonicMaternalnonsynonymous SNVNM_015261c.A2512Gp.I838V0.6951.661E-5Hu2022 T
NCAPD3     Hu2022:38chr11:
134022951-134022951		GCintronicPaternal-1.713E-5Hu2022 T
DYRK1A     Hu2022:40chr21:
38884272-38884272		TAexonicUnknownnonsynonymous SNVNM_001396
NM_130436		c.T1730A
c.T1703A		p.V577D
p.V568D		27.3-Hu2022 T
IQSEC2     Hu2022:39chrX:
53285098-53285098		GAexonicUnknownnonsynonymous SNVNM_001111125
NM_015075		c.C883T
c.C268T		p.R295W
p.R90W		14.37-Hu2022 T
PHIP     Hu2022:48chr6:
79727249-79727249		ATexonicPaternalnonsynonymous SNVNM_017934c.T1046Ap.F349Y5.54-Hu2022 T
PLA2G6     Hu2022:47chr22:
38528924-38528924		CAexonicUnknownnonsynonymous SNVNM_001004426
NM_001199562
NM_003560		c.G991T
c.G991T
c.G991T		p.D331Y
p.D331Y
p.D331Y		25.94.752E-5Hu2022 T
HCFC1     Hu2022:49chrX:
153217162-153217162		GAintronicUnknown--Hu2022 T
CTNNB1     Hu2022:49chr3:
41266085-41266085		CGexonicUnknownnonsynonymous SNVNM_001098209
NM_001098210
NM_001904		c.C82G
c.C82G
c.C82G		p.Q28E
p.Q28E
p.Q28E		16.54-Hu2022 T
PTEN     Hu2022:45chr10:
89717672-89717672		CTexonicUnknownstopgainNM_000314
NM_001304718
NM_001304717		c.C697T
c.C106T
c.C1216T		p.R233X
p.R36X
p.R406X		48.0-Hu2022 T
DYRK1A     Hu2022:44chr21:
38850489-38850489		CGexonicUnknownnonsynonymous SNVNM_001396
NM_130438
NM_101395		c.C214G
c.C214G
c.C214G		p.P72A
p.P72A
p.P72A		14.36-Hu2022 T
PLA2G6     Hu2022:47chr22:
38516880-38516880		CTexonicUnknownnonsynonymous SNVNM_001004426
NM_001199562
NM_003560		c.G1466A
c.G1466A
c.G1628A		p.R489H
p.R489H
p.R543H		23.13.309E-5Hu2022 T
SLITRK1     Hu2022:46chr13:
84455351-84455351		CTexonicUnknownnonsynonymous SNVNM_052910
NM_001281503		c.G292A
c.G292A		p.V98I
p.V98I		13.1-Hu2022 T
ACVR1     Hu2022:53chr2:
158626989-158626989		CTexonicUnknownstopgainNM_001105
NM_001111067		c.G681A
c.G681A		p.W227X
p.W227X		40.0-Hu2022 T
PHIP     Hu2022:53chr6:
79672916-79672916		TCexonicUnknownnonsynonymous SNVNM_017934c.A3433Gp.R1145G17.94-Hu2022 T
FOXP1     Hu2022:55chr3:
71015071-71015071		CTexonicUnknownnonsynonymous SNVNM_001244813
NM_001244812
NM_001244815
NM_001244814
NM_001244816
NM_001244808
NM_001244810
NM_032682		c.G1559A
c.G1631A
c.G1865A
c.G1859A
c.G1859A
c.G1856A
c.G1907A
c.G1859A		p.S520N
p.S544N
p.S622N
p.S620N
p.S620N
p.S619N
p.S636N
p.S620N		21.7-Hu2022 T
SETBP1     Hu2022:54chr18:
42531731-42531731		AGexonicPaternalnonsynonymous SNVNM_015559c.A2426Gp.Q809R13.25-Hu2022 T
GRIA3     Hu2022:50chrX:
122318409-122318409		GAexonicUnknownnonsynonymous SNVNM_000828
NM_001256743
NM_007325		c.G22A
c.G22A
c.G22A		p.G8R
p.G8R
p.G8R		13.32-Hu2022 T
SOS1     Hu2022:49chr2:
39216457-39216457		TCsplicingUnknownsplicing21.4-Hu2022 T
DPP6     Hu2022:52chr7:
154585802-154585802		AGexonicUnknownnonsynonymous SNVNM_001290252
NM_001039350
NM_001936
NM_130797		c.A829G
c.A958G
c.A964G
c.A1150G		p.T277A
p.T320A
p.T322A
p.T384A		18.77-Hu2022 T
COL4A3BP     Hu2022:51chr5:
74712810-74712810		CTexonicUnknownnonsynonymous SNVNM_005713
NM_031361
NM_001130105		c.G728A
c.G728A
c.G1112A		p.G243E
p.G243E
p.G371E		27.4-Hu2022 T
TMLHE     Hu2022:59chrX:
154743783-154743783		GAexonicUnknownstopgainNM_001184797
NM_018196		c.C502T
c.C502T		p.Q168X
p.Q168X		23.6-Hu2022 T
USP27X     Hu2022:58chrX:
49645815-49645815		TCexonicUnknownnonsynonymous SNVNM_001145073c.T905Cp.L302S--Hu2022 T
USP9X     Hu2022:61chrX:
41029747-41029747		ACexonicMaternalnonsynonymous SNVNM_001039590
NM_001039591		c.A2902C
c.A2902C		p.I968L
p.I968L		14.72-Hu2022 T
BRWD3     Hu2022:60chrX:
80064545-80064545		AGintronicUnknown--Hu2022 T
DDX3X     Hu2022:57chrX:
41196685-41196685		TGexonicMaternalnonsynonymous SNVNM_001193416
NM_001193417
NM_001356		c.T70G
c.T70G
c.T70G		p.S24A
p.S24A
p.S24A		13.81-Hu2022 T
PHIP     Hu2022:56chr6:
79665392-79665392		TCexonicPaternalnonsynonymous SNVNM_017934c.A3790Gp.T1264A13.86-Hu2022 T
GNAI3     Hu2022:58chr1:
110121866-110121866		AGexonicUnknownnonsynonymous SNVNM_006496c.A344Gp.E115G20.3-Hu2022 T
DLG3     Hu2022:57chrX:
69719742-69719742		GAexonicMaternalnonsynonymous SNVNM_001166278
NM_020730
NM_021120		c.G635A
c.G1073A
c.G1988A		p.R212Q
p.R358Q
p.R663Q		18.34-Hu2022 T
GRIA3     Hu2022:67chrX:
122551611-122551611		GCexonicUnknownnonsynonymous SNVNM_000828
NM_007325		c.G1859C
c.G1859C		p.G620A
p.G620A		22.5-Hu2022 T
DIP2B     Hu2022:66chr12:
51068356-51068356		TCexonicUnknownnonsynonymous SNVNM_173602c.T740Cp.I247T6.658-Hu2022 T
TRIO     Hu2022:68chr5:
14387875-14387875		GAexonicUnknownnonsynonymous SNVNM_007118c.G3800Ap.S1267N19.04-Hu2022 T
AFF2     Hu2022:68chrX:
147743835-147743835		TCexonicUnknownnonsynonymous SNVNM_001169122
NM_001169123
NM_001169124
NM_001169125
NM_002025		c.T575C
c.T575C
c.T587C
c.T575C
c.T587C		p.F192S
p.F192S
p.F196S
p.F192S
p.F196S		11.51-Hu2022 T
DIP2B     Hu2022:63chr12:
51074491-51074491		CTexonicUnknownnonsynonymous SNVNM_173602c.C1151Tp.T384I28.6-Hu2022 T
FOXP1     Hu2022:62chr3:
71037180-71037180		CTexonicUnknownnonsynonymous SNVNM_001244813
NM_001244812
NM_001244815
NM_001244814
NM_001244816
NM_001244808
NM_001244810
NM_032682		c.G811A
c.G883A
c.G1117A
c.G1111A
c.G1111A
c.G1111A
c.G1111A
c.G1111A		p.V271M
p.V295M
p.V373M
p.V371M
p.V371M
p.V371M
p.V371M
p.V371M		6.736-Hu2022 T
SHANK3     Hu2022:65chr22:
51169394-51169394		CTexonicUnknownnonsynonymous SNVNM_033517c.C4808Tp.P1603L15.11-Hu2022 T
L1CAM     Hu2022:64chrX:
153133875-153133875		CTexonicUnknownnonsynonymous SNVNM_001143963
NM_000425
NM_024003
NM_001278116		c.G1570A
c.G1585A
c.G1585A
c.G1585A		p.E524K
p.E529K
p.E529K
p.E529K		12.51-Hu2022 T
RPS6KA3     Hu2022:72chrX:
20284690-20284690		TCexonicUnknownnonsynonymous SNVNM_004586c.A61Gp.S21G9.231-Hu2022 T
KLHL15     Hu2022:71chrX:
24006703-24006703		CTexonicUnknownnonsynonymous SNVNM_030624c.G1150Ap.V384I17.15-Hu2022 T
ZC4H2     Hu2022:73chrX:
64137775-64137775		GAexonicMaternalnonsynonymous SNVNM_001178033
NM_001178032
NM_001243804
NM_018684		c.C400T
c.C494T
c.C494T
c.C563T		p.P134S
p.A165V
p.A165V
p.A188V		21.2-Hu2022 T
KIF1A     Hu2022:73chr2:
241700653-241700653		TCexonicDe novononsynonymous SNVNM_004321
NM_001244008		c.A2231G
c.A2258G		p.K744R
p.K753R		17.45-Hu2022 T
ARID1B     Hu2022:70chr6:
157521844-157521844		CAexonicDe novostopgainNM_017519
NM_020732		c.C4077A
c.C4116A		p.Y1359X
p.Y1372X		42.0-Hu2022 T
FOXP2     Hu2022:69chr7:
114303569-114303569		TAexonicUnknownnonsynonymous SNVNM_001172766
NM_014491
NM_148898
NM_148900		c.T1831A
c.T1834A
c.T1909A
c.T1885A		p.L611M
p.L612M
p.L637M
p.L629M		11.22-Hu2022 T
CTNNB1     Hu2022:71chr3:
41279547-41279547		CAexonicUnknownnonsynonymous SNVNM_001098209
NM_001098210
NM_001904		c.C2117A
c.C2117A
c.C2117A		p.P706H
p.P706H
p.P706H		19.87-Hu2022 T
CHD7     Hu2022:70chr8:
61654295-61654295		CTexonicPaternalnonsynonymous SNVNM_001316690
NM_017780		c.C304T
c.C304T		p.H102Y
p.H102Y		15.41-Hu2022 T
PPP2R5D     Hu2022:77chr6:
42974971-42974971		CTexonicUnknownnonsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976		c.C242T
c.C107T
c.C560T
c.C464T		p.S81L
p.S36L
p.S187L
p.S155L		16.17-Hu2022 T
ADGRV1     Hu2022:76chr5:
90074281-90074281		AGexonicUnknownnonsynonymous SNVNM_032119c.A12704Gp.Y4235C14.592.0E-4Hu2022 T
SETD5     Hu2022:80chr3:
9512347-9512347		TAexonicPaternalnonsynonymous SNVNM_001080517
NM_001292043		c.T2929A
c.T2635A		p.F977I
p.F879I		16.19-Hu2022 T
SETBP1     Hu2022:79chr18:
42529856-42529856		GTexonicUnknownnonsynonymous SNVNM_015559c.G551Tp.R184M18.94-Hu2022 T
SPTAN1     Hu2022:74chr9:
131389713-131389713		GAexonicUnknownnonsynonymous SNVNM_001195532
NM_003127
NM_001130438		c.G6550A
c.G6610A
c.G6625A		p.D2184N
p.D2204N
p.D2209N		17.85-Hu2022 T
FBN2     Hu2022:74chr5:
127625581-127625582		TGTexonicUnknownframeshift deletionNM_001999c.6503delCp.T2168fs--Hu2022 T
ADGRV1     Hu2022:76chr5:
89954046-89954046		GAexonicUnknownnonsynonymous SNVNM_032119c.G4703Ap.S1568N26.26.327E-5Hu2022 T
SHANK3     Hu2022:75chr22:
51142293-51142293		CTexonicUnknownnonsynonymous SNVNM_033517c.C1576Tp.R526W15.211.92E-5Hu2022 T
ASXL3     Hu2022:82chr18:
31322948-31322948		GAexonicMaternalnonsynonymous SNVNM_030632c.G3136Ap.G1046R14.832.517E-5Hu2022 T
ERCC2     Hu2022:82chr19:
45856520-45856520		CTexonicMaternalnonsynonymous SNVNM_000400c.G1738Ap.A580T33.01.659E-5Hu2022 T
DCX     Hu2022:84chrX:
110574270-110574270		CGsplicingUnknownsplicing18.07-Hu2022 T
FOXP1     Hu2022:83chr3:
71247424-71247424		AGexonicUnknownnonsynonymous SNVNM_001244814
NM_001244812
NM_001244816
NM_001012505
NM_001244808
NM_001244810
NM_032682		c.T109C
c.T109C
c.T109C
c.T109C
c.T109C
c.T109C
c.T109C		p.S37P
p.S37P
p.S37P
p.S37P
p.S37P
p.S37P
p.S37P		22.8-Hu2022 T
LRP2     Hu2022:81chr2:
170030607-170030607		CAexonicUnknownnonsynonymous SNVNM_004525c.G10836Tp.Q3612H15.292.472E-5Hu2022 T
HUWE1     Hu2022:81chrX:
53574690-53574690		AGexonicUnknownnonsynonymous SNVNM_031407c.T10580Cp.V3527A11.84-Hu2022 T
ERCC2     Hu2022:82chr19:
45868096-45868100		TGAGTTexonicPaternalframeshift deletionNM_001130867
NM_000400		c.518_521del
c.590_593del		p.Y173fs
p.Y197fs		--Hu2022 T
LRP2     Hu2022:81chr2:
170081952-170081954		GTGGexonicUnknownframeshift deletionNM_004525c.5404_5405delp.H1802fs--Hu2022 T
Source Variant Information

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Paper Information
Title
Authors
Technology
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Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
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