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Results for "Toma2013"

Variant Events: 220

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
RPS6KC1     MT_109chr1:
213415526-213415526		GCexonicMaternalnonsynonymous SNVNM_001287220
NM_001136138
NM_001287221
NM_001287218
NM_001287219
NM_012424		c.G1312C
c.G2671C
c.G2164C
c.G2071C
c.G2071C
c.G2707C		p.E438Q
p.E891Q
p.E722Q
p.E691Q
p.E691Q
p.E903Q		18.582.481E-5Toma2013 E
TCTEX1D1     MT_109chr1:
67242971-67242971		GAexonicMaternalnonsynonymous SNVNM_152665c.G374Ap.R125Q13.666.598E-5Toma2013 E
IQSEC1     MT_109chr3:
12955034-12955034		CTexonicPaternalnonsynonymous SNVNM_001134382
NM_014869		c.G2210A
c.G2252A		p.R737H
p.R751H		32.08.734E-6Toma2013 E
SCN1A     MT_109chr2:
166872170-166872170		TCexonicPaternalnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.A3497G
c.A3413G
c.A3464G
c.A3497G		p.Q1166R
p.Q1138R
p.Q1155R
p.Q1166R		21.6-Toma2013 E
BTNL9     MT_109chr5:
180477253-180477255		ACCACexonicMaternalframeshift deletionNM_001308245
NM_152547		c.622delC
c.622delC		p.L208fs
p.L208fs		--Toma2013 E
GABRA4     MT_109chr4:
46930759-46930759		TCexonicMaternalnonsynonymous SNVNM_001204267
NM_000809
NM_001204266		c.A938G
c.A1148G
c.A1091G		p.N313S
p.N383S
p.N364S		8.0426.938E-5Toma2013 E
ZNF311     MT_109chr6:
28962881-28962882		TTTexonicPaternalframeshift deletionNM_001010877c.1897delAp.K633fs--Toma2013 E
PRRC2A     MT_109chr6:
31603009-31603009		AGexonicPaternalnonsynonymous SNVNM_004638
NM_080686		c.A5261G
c.A5261G		p.H1754R
p.H1754R		4.494-Toma2013 E
OBP2B     MT_109chr9:
136083971-136083971		CTexonicMaternalnonsynonymous SNVNM_001288987
NM_014581		c.G91A
c.G91A		p.V31M
p.V31M		7.6672.0E-4Toma2013 E
TSC1     MT_109chr9:
135797313-135797313		CTexonicMaternalnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.G403A
c.G556A
c.G556A		p.A135T
p.A186T
p.A186T		22.6-Toma2013 E
PHLDB1     MT_109chr11:
118518737-118518737		GAexonicMaternalnonsynonymous SNVNM_001144759
NM_001144758
NM_015157		c.G3458A
c.G3599A
c.G3599A		p.R1153Q
p.R1200Q
p.R1200Q		13.325.145E-5Toma2013 E
CDHR5     MT_109chr11:
619539-619539		GAexonicMaternalnonsynonymous SNVNM_001171968
NM_021924
NM_031264		c.C1228T
c.C1228T
c.C1228T		p.R410W
p.R410W
p.R410W		15.518.272E-6Toma2013 E
ADAMTS20     MT_109chr12:
43860485-43860485		CTexonicPaternalnonsynonymous SNVNM_025003c.G1337Ap.C446Y19.76-Toma2013 E
SPATA19     MT_109chr11:
133712408-133712408		GAexonicPaternalstopgainNM_001291992
NM_174927		c.C409T
c.C409T		p.R137X
p.R137X		34.02.471E-5Toma2013 E
CYFIP1     MT_109chr15:
22969287-22969287		GCexonicMaternalnonsynonymous SNVNM_001033028
NM_014608
NM_001287810		c.G1220C
c.G2513C
c.G2513C		p.R407T
p.R838T
p.R838T		27.3-Toma2013 E
RBM26     MT_109chr13:
79916801-79916801		GCexonicMaternalnonsynonymous SNVNM_001286632
NM_022118
NM_001286631		c.C2353G
c.C2344G
c.C2431G		p.Q785E
p.Q782E
p.Q811E		15.681.649E-5Toma2013 E
ENO3     MT_109chr17:
4858791-4858791		CTexonicMaternalnonsynonymous SNVNM_001193503
NM_001976
NM_053013		c.C628T
c.C757T
c.C757T		p.R210C
p.R253C
p.R253C		16.04-Toma2013 E
CTU2     MT_109chr16:
88780568-88780568		CTexonicMaternalnonsynonymous SNVNM_001012759
NM_001012762		c.C1030T
c.C1030T		p.R344W
p.R344W		18.851.667E-5Toma2013 E
CYP4F2     MT_109chr19:
16003189-16003189		GAexonicPaternalnonsynonymous SNVNM_001082c.C455Tp.T152M13.125.0E-4Toma2013 E
CEP131     MT_109chr17:
79171545-79171545		CGexonicPaternalnonsynonymous SNVNM_001009811
NM_014984		c.G1614C
c.G1614C		p.K538N
p.K538N		17.01-Toma2013 E
CABIN1     MT_109chr22:
24456455-24456455		CTexonicPaternalnonsynonymous SNVNM_001201429
NM_001199281
NM_012295		c.C1318T
c.C1468T
c.C1468T		p.R440C
p.R490C
p.R490C		20.95.0E-4Toma2013 E
ZNF440     MT_109chr19:
11943225-11943225		CTexonicPaternalstopgainNM_152357c.C1234Tp.R412X16.940.0024Toma2013 E
HTR1D     MT_151chr1:
23520238-23520238		TAexonicMaternalnonsynonymous SNVNM_000864c.A475Tp.I159F15.38-Toma2013 E
BEND2     MT_109chrX:
18192321-18192321		TCexonicMaternalnonsynonymous SNVNM_001184767
NM_153346		c.A1537G
c.A1810G		p.R513G
p.R604G		11.31-Toma2013 E
SULT6B1     MT_151chr2:
37398632-37398632		CGexonicMaternalnonsynonymous SNVNM_001032377c.G612Cp.M204I14.57-Toma2013 E
IVL     MT_151chr1:
152883251-152883252		GGGexonicMaternalframeshift deletionNM_005547c.979delGp.E327fs--Toma2013 E
PRICKLE2     MT_151chr3:
64084843-64084843		CTexonicPaternalnonsynonymous SNVNM_198859c.G2419Ap.D807N13.45-Toma2013 E
SLC11A1     MT_151chr2:
219249897-219249897		GAexonicMaternalnonsynonymous SNVNM_000578c.G301Ap.V101M10.94-Toma2013 E
ANK2     MT_151chr4:
114294463-114294463		GAexonicMaternalnonsynonymous SNVNM_020977
NM_001148
NM_001127493		c.G5462A
c.G11717A
c.G5435A		p.R1821Q
p.R3906Q
p.R1812Q		24.52.473E-5Toma2013 E
GRAMD1C     MT_151chr3:
113652385-113652385		CTexonicPaternalstopgainNM_001172105
NM_017577		c.C622T
c.C1237T		p.R208X
p.R413X		40.0-Toma2013 E
LAP3     MT_151chr4:
17606228-17606232		TTGGGTexonicPaternalframeshift deletionNM_015907c.1199_1202delp.L400fs--Toma2013 E
TIGD4     MT_151chr4:
153691012-153691012		GTexonicPaternalnonsynonymous SNVNM_145720c.C1145Ap.S382Y0.464-Toma2013 E
TRIM4     MT_151chr7:
99489859-99489859		GCexonicMaternalstopgainNM_033091
NM_033017		c.C1352G
c.C1430G		p.S451X
p.S477X		16.31-Toma2013 E
ZSCAN25     MT_151chr7:
99217569-99217569		GAexonicMaternalnonsynonymous SNVNM_145115c.G340Ap.A114T9.2071.697E-5Toma2013 E
EPS8L2     MT_151chr11:
720080-720080		ATexonicPaternalnonsynonymous SNVNM_022772c.A184Tp.M62L8.9441.0E-4Toma2013 E
GSDMD     MT_151chr8:
144642836-144642836		CAexonicPaternalstopgainNM_024736
NM_001166237		c.C474A
c.C474A		p.Y158X
p.Y158X		11.82-Toma2013 E
C16orf71     MT_151chr16:
4787868-4787868		CTexonicMaternalnonsynonymous SNVNM_139170c.C197Tp.S66L16.648.242E-6Toma2013 E
COG3     MT_151chr13:
46050463-46050463		GTexonicMaternalnonsynonymous SNVNM_031431c.G302Tp.R101I14.99-Toma2013 E
DRP2     MT_151chrX:
100503119-100503119		GTexonicMaternalstopgainNM_001171184
NM_001939		c.G1060T
c.G1294T		p.E354X
p.E432X		38.01.14E-5Toma2013 E
NF1     MT_151chr17:
29684327-29684327		GAexonicPaternalnonsynonymous SNVNM_000267
NM_001042492		c.G7847A
c.G7910A		p.R2616Q
p.R2637Q		25.63.298E-5Toma2013 E
POU2F1     MT_160chr1:
167384806-167384806		CTexonicMaternalnonsynonymous SNVNM_001198786
NM_001198783
NM_002697		c.C1871T
c.C2027T
c.C2060T		p.A624V
p.A676V
p.A687V		23.52.0E-4Toma2013 E
TCHH     MT_160chr1:
152081724-152081724		CGexonicPaternalnonsynonymous SNVNM_007113c.G3969Cp.E1323D13.57-Toma2013 E
ITGAV     MT_160chr2:
187505657-187505657		GAexonicMaternalnonsynonymous SNVNM_001145000
NM_001144999
NM_002210		c.G811A
c.G781A
c.G919A		p.G271R
p.G261R
p.G307R		24.7-Toma2013 E
ADD2     MT_160chr2:
70905837-70905837		GAexonicMaternalnonsynonymous SNVNM_001185055
NM_001185054
NM_001617
NM_017482
NM_017488		c.C1430T
c.C1382T
c.C1382T
c.C1382T
c.C1382T		p.T477M
p.T461M
p.T461M
p.T461M
p.T461M		20.32.731E-5Toma2013 E
FETUB     MT_160chr3:
186369071-186369071		GCexonicMaternalnonsynonymous SNVNM_001308079
NM_001308077
NM_014375		c.G566C
c.G650C
c.G761C		p.C189S
p.C217S
p.C254S		18.958.686E-6Toma2013 E
FAM171B     MT_160chr2:
187604958-187604958		CGexonicMaternalnonsynonymous SNVNM_177454c.C242Gp.S81C24.2-Toma2013 E
NDST3     MT_160chr4:
119154209-119154209		TAexonicPaternalnonsynonymous SNVNM_004784c.T1862Ap.I621N24.3-Toma2013 E
RUBCN     MT_160chr3:
197409416-197409416		CTexonicPaternalnonsynonymous SNVNM_014687
NM_001145642		c.G2051A
c.G1916A		p.R684Q
p.R639Q		29.03.318E-5Toma2013 E
ADGRB3     MT_160chr6:
69685183-69685183		CTexonicMaternalnonsynonymous SNVNM_001704c.C1685Tp.P562L31.0-Toma2013 E
TRAPPC11     MT_160chr4:
184601362-184601362		AGexonicMaternalnonsynonymous SNVNM_021942
NM_199053		c.A1055G
c.A1055G		p.Q352R
p.Q352R		25.48.239E-6Toma2013 E
AKAP9     MT_160chr7:
91630490-91630490		AGexonicMaternalnonsynonymous SNVNM_005751
NM_147185		c.A1259G
c.A1259G		p.Q420R
p.Q420R		8.8683.334E-5Toma2013 E
MYO1G     MT_160chr7:
45005293-45005293		GAexonicMaternalnonsynonymous SNVNM_033054c.C2324Tp.P775L16.662.498E-5Toma2013 E
C8orf74     MT_160chr8:
10557940-10557940		CCCexonicMaternalframeshift insertionNM_001040032c.844dupCp.Q282fs--Toma2013 E
DOCK4     MT_160chr7:
111428810-111428810		CTintronicMaternal13.761.0E-4Toma2013 E
KANK1     MT_160chr9:
742297-742297		GCexonicMaternalnonsynonymous SNVNM_153186
NM_015158
NM_001256877
NM_001256876		c.G3315C
c.G3789C
c.G3789C
c.G3789C		p.Q1105H
p.Q1263H
p.Q1263H
p.Q1263H		23.7-Toma2013 E
YWHAZ     MT_160chr8:
101936203-101936203		AATexonicMaternalframeshift insertionNM_001135699
NM_001135700
NM_001135701
NM_001135702
NM_003406
NM_145690		c.657dupA
c.657dupA
c.657dupA
c.657dupA
c.657dupA
c.657dupA		p.L220fs
p.L220fs
p.L220fs
p.L220fs
p.L220fs
p.L220fs		--Toma2013 E
DNHD1     MT_160chr11:
6578188-6578188		CTexonicMaternalnonsynonymous SNVNM_144666c.C7663Tp.R2555W8.9633.0E-4Toma2013 E
KDM4C     MT_160chr9:
6849673-6849673		AGexonicMaternalnonsynonymous SNVNM_001304340
NM_001146695
NM_001146696
NM_001304339
NM_015061		c.A59G
c.A602G
c.A668G
c.A602G
c.A602G		p.Y20C
p.Y201C
p.Y223C
p.Y201C
p.Y201C		23.8-Toma2013 E
MMP8     MT_160chr11:
102589250-102589250		GAexonicMaternalnonsynonymous SNVNM_002424
NM_001304441
NM_001304442		c.C679T
c.C610T
c.C610T		p.H227Y
p.H204Y
p.H204Y		15.117.448E-5Toma2013 E
IGHMBP2     MT_160chr11:
68701932-68701932		GAexonicPaternalnonsynonymous SNVNM_002180c.G1538Ap.G513D21.7-Toma2013 E
GLIPR1     MT_160chr12:
75892479-75892479		CTexonicPaternalstopgainNM_006851c.C625Tp.R209X14.678.292E-5Toma2013 E
DYNC2H1     MT_160chr11:
103175330-103175330		AGexonicMaternalnonsynonymous SNVNM_001377
NM_001080463		c.A11263G
c.A11284G		p.M3755V
p.M3762V		21.54.0E-4Toma2013 E
LCT     MT_28chr2:
136594528-136594528		ACexonicMaternalnonsynonymous SNVNM_002299c.T212Gp.F71C10.67-Toma2013 E
AMZ2     MT_160chr17:
66251859-66251859		GAexonicPaternalnonsynonymous SNVNM_001033574
NM_016627
NM_001033569
NM_001033570
NM_001033571
NM_001033572
NM_001289054
NM_001289056		c.G595A
c.G769A
c.G769A
c.G769A
c.G769A
c.G769A
c.G769A
c.G769A		p.G199R
p.G257R
p.G257R
p.G257R
p.G257R
p.G257R
p.G257R
p.G257R		22.04.951E-5Toma2013 E
GATB     MT_28chr4:
152622545-152622545		CAexonicPaternalnonsynonymous SNVNM_004564c.G1133Tp.S378I17.328.39E-6Toma2013 E
RABL2A     MT_28chr2:
114392640-114392641		CGCexonicPaternalframeshift deletionNM_001306160
NM_001306158
NM_001306159
NM_007082
NM_013412		c.231delG
c.231delG
c.231delG
c.231delG
c.231delG		p.T77fs
p.T77fs
p.T77fs
p.T77fs
p.T77fs		-0.0315Toma2013 E
TJP2     MT_28chr9:
71863039-71863039		GAexonicPaternalnonsynonymous SNVNM_001170415
NM_001170416
NM_001170630
NM_004817
NM_201629
NM_001170414		c.G2791A
c.G2872A
c.G2779A
c.G2779A
c.G2779A
c.G2710A		p.G931S
p.G958S
p.G927S
p.G927S
p.G927S
p.G904S		35.0-Toma2013 E
FAM200A     MT_28chr7:
99145712-99145712		TCexonicMaternalnonsynonymous SNVNM_145111c.A319Gp.T107A15.55-Toma2013 E
TRIM29     MT_28chr11:
120008187-120008187		TCexonicPaternalnonsynonymous SNVNM_012101c.A553Gp.K185E21.4-Toma2013 E
IFIT1     MT_28chr10:
91162622-91162622		AAAexonicMaternalframeshift insertionNM_001548
NM_001270927
NM_001270928
NM_001270929
NM_001270930		c.590dupA
c.590dupA
c.497dupA
c.497dupA
c.497dupA		p.N197fs
p.N197fs
p.N166fs
p.N166fs
p.N166fs		--Toma2013 E
ZNF140     MT_28chr12:
133682990-133682990		CTexonicMaternalnonsynonymous SNVNM_001300776
NM_001300777
NM_003440
NM_001300778		c.C818T
c.C743T
c.C1127T
c.C818T		p.T273M
p.T248M
p.T376M
p.T273M		11.35.769E-5Toma2013 E
PRICKLE1     MT_28chr12:
42853740-42853740		CGexonicPaternalnonsynonymous SNVNM_001144881
NM_001144882
NM_001144883
NM_153026		c.G2367C
c.G2367C
c.G2367C
c.G2367C		p.Q789H
p.Q789H
p.Q789H
p.Q789H		12.3-Toma2013 E
DYM     MT_28chr18:
46812830-46812830		GAexonicMaternalnonsynonymous SNVNM_017653c.C920Tp.A307V15.375.767E-5Toma2013 E
AQP4     MT_28chr18:
24436233-24436233		TCexonicPaternalnonsynonymous SNVNM_001317387
NM_004028
NM_001650		c.A833G
c.A848G
c.A914G		p.D278G
p.D283G
p.D305G		16.55-Toma2013 E
SIPA1L3     MT_28chr19:
38610142-38610142		GAexonicPaternalnonsynonymous SNVNM_015073c.G2488Ap.E830K35.04.947E-5Toma2013 E
ZNF532     MT_28chr18:
56587446-56587446		GAexonicMaternalnonsynonymous SNVNM_018181c.G1927Ap.E643K16.98-Toma2013 E
ADGRG4     MT_28chrX:
135431930-135431930		CAexonicMaternalnonsynonymous SNVNM_153834c.C6065Ap.T2022N17.26-Toma2013 E
NAPSA     MT_28chr19:
50865542-50865542		GAexonicPaternalnonsynonymous SNVNM_004851c.C112Tp.R38C12.838.315E-6Toma2013 E
HK2     MT_69chr2:
75101437-75101437		GAexonicPaternalnonsynonymous SNVNM_000189c.G736Ap.D246N19.978.261E-6Toma2013 E
SRBD1     MT_69chr2:
45780792-45780792		ACexonicMaternalnonsynonymous SNVNM_018079c.T1487Gp.L496R17.65-Toma2013 E
DNAH1     MT_69chr3:
52425336-52425336		CGexonicPaternalnonsynonymous SNVNM_015512c.C9883Gp.L3295V14.3-Toma2013 E
TRPM8     MT_69chr2:
234851324-234851324		GAexonicPaternalnonsynonymous SNVNM_024080c.G631Ap.A211T11.01-Toma2013 E
CCDC36     MT_69chr3:
49274079-49274079		CGexonicPaternalstopgainNM_001135197
NM_178173		c.C155G
c.C155G		p.S52X
p.S52X		21.6-Toma2013 E
RFT1     MT_69chr3:
53156434-53156434		GTexonicMaternalnonsynonymous SNVNM_052859c.C412Ap.P138T20.9-Toma2013 E
RBM47     MT_69chr4:
40434858-40434858		GAexonicPaternalnonsynonymous SNVNM_019027
NM_001098634		c.C1145T
c.C1352T		p.A382V
p.A451V		16.611.65E-5Toma2013 E
PDS5A     MT_69chr4:
39978130-39978130		AGexonicPaternalnonsynonymous SNVNM_001100399
NM_001100400		c.T68C
c.T68C		p.I23T
p.I23T		26.0-Toma2013 E
ARSJ     MT_69chr4:
114824312-114824312		GCexonicMaternalnonsynonymous SNVNM_024590c.C918Gp.N306K15.12-Toma2013 E
KLHL8     MT_69chr4:
88099691-88099691		CTexonicPaternalnonsynonymous SNVNM_001292007
NM_001292003
NM_001292006
NM_020803		c.G485A
c.G1034A
c.G806A
c.G1034A		p.S162N
p.S345N
p.S269N
p.S345N		29.32.472E-5Toma2013 E
JMY     MT_69chr5:
78595988-78595988		CTexonicPaternalnonsynonymous SNVNM_152405c.C1540Tp.R514W17.437.0E-4Toma2013 E
STOX2     MT_69chr4:
184930698-184930698		CAexonicPaternalnonsynonymous SNVNM_020225c.C707Ap.P236H17.488.35E-6Toma2013 E
PTPRD     MT_69chr9:
8484233-8484233		GAexonicPaternalnonsynonymous SNVNM_001171025
NM_001040712
NM_130393
NM_130391
NM_130392
NM_002839		c.C2036T
c.C2057T
c.C2051T
c.C2066T
c.C2066T
c.C3299T		p.T679M
p.T686M
p.T684M
p.T689M
p.T689M
p.T1100M		18.268.237E-6Toma2013 E
MCMDC2     MT_69chr8:
67813549-67813550		GGGexonicPaternalframeshift deletionNM_001136160
NM_001136161
NM_173518		c.1736delG
c.1736delG
c.1736delG		p.G579fs
p.G579fs
p.G579fs		--Toma2013 E
TMEM9B     MT_69chr11:
8969931-8969931		CAexonicPaternalnonsynonymous SNVNM_001286094
NM_001286095
NM_020644		c.G311T
c.G311T
c.G533T		p.R104L
p.R104L
p.R178L		33.08.239E-5Toma2013 E
VWA2     MT_69chr10:
116049011-116049011		CTexonicPaternalnonsynonymous SNVNM_001272046c.C1885Tp.R629W20.81.684E-5Toma2013 E
TSPAN32     MT_69chr11:
2339145-2339147		CTCCexonicMaternalframeshift deletionNM_139022c.955_956delp.S319fs--Toma2013 E
ROBO3     MT_69chr11:
124740181-124740181		GAexonicMaternalnonsynonymous SNVNM_022370c.G887Ap.G296E25.2-Toma2013 E
UBE3B     MT_69chr12:
109924375-109924375		CTexonicMaternalnonsynonymous SNVNM_001270449
NM_001270450
NM_001270451
NM_130466
NM_183415		c.C442T
c.C442T
c.C442T
c.C442T
c.C442T		p.L148F
p.L148F
p.L148F
p.L148F
p.L148F		15.312.0E-4Toma2013 E
NXPE2     MT_69chr11:
114577559-114577559		GAexonicMaternalstopgainNM_182495c.G1587Ap.W529X36.07.0E-4Toma2013 E
LRP10     MT_69chr14:
23345532-23345532		GAexonicMaternalnonsynonymous SNVNM_014045c.G1375Ap.A459T32.0-Toma2013 E
HVCN1     MT_69chr12:
111093062-111093062		CTexonicMaternalnonsynonymous SNVNM_001256413
NM_001040107
NM_032369		c.G328A
c.G388A
c.G388A		p.D110N
p.D130N
p.D130N		18.458.237E-5Toma2013 E
CCDC102B     MT_69chr18:
66504176-66504176		CGexonicPaternalnonsynonymous SNVNM_024781
NM_001093729		c.C176G
c.C176G		p.A59G
p.A59G		8.3360.0016Toma2013 E
SPTBN5     MT_69chr15:
42154996-42154996		GAexonicPaternalstopgainNM_016642c.C7255Tp.Q2419X47.0-Toma2013 E
TFIP11     MT_69chr22:
26890165-26890169		CAGATCexonicPaternalframeshift deletionNM_012143
NM_001008697		c.2094_2097del
c.2094_2097del		p.P698fs
p.P698fs		--Toma2013 E
ZNF154     MT_69chr19:
58216223-58216223		AGexonicPaternalnonsynonymous SNVNM_001085384c.T158Cp.L53P14.22-Toma2013 E
VANGL1     MT_76chr1:
116206697-116206697		GAexonicMaternalnonsynonymous SNVNM_001172411
NM_001172412
NM_138959		c.G614A
c.G620A
c.G620A		p.R205H
p.R207H
p.R207H		24.12.471E-5Toma2013 E
RTL9     MT_69chrX:
109695812-109695812		CTexonicMaternalnonsynonymous SNVNM_020769c.C1967Tp.P656L13.372.28E-5Toma2013 E
RPN1     MT_76chr3:
128344444-128344444		AGexonicPaternalnonsynonymous SNVNM_002950c.T1328Cp.V443A26.28.244E-6Toma2013 E
FASTKD2     MT_76chr2:
207631493-207631493		TCexonicPaternalnonsynonymous SNVNM_001136193
NM_001136194
NM_014929		c.T76C
c.T76C
c.T76C		p.W26R
p.W26R
p.W26R		6.350.0011Toma2013 E
CCDC127     MT_76chr5:
205425-205425		AGexonicPaternalnonsynonymous SNVNM_145265c.T770Cp.I257T12.05-Toma2013 E
EPHB3     MT_76chr3:
184294872-184294872		ATexonicMaternalnonsynonymous SNVNM_004443c.A1255Tp.T419S18.43-Toma2013 E
POLK     MT_76chr5:
74882866-74882867		AAAexonicMaternalframeshift deletionNM_016218c.1243delAp.S415fs--Toma2013 E
EGFLAM     MT_76chr5:
38412638-38412642		TAAGTTexonicMaternalframeshift deletionNM_182798
NM_001205301
NM_152403		c.681_684del
c.1383_1386del
c.1383_1386del		p.V227fs
p.V461fs
p.V461fs		--Toma2013 E
CASC4     MT_76chr15:
44581428-44581428		TGexonicPaternalnonsynonymous SNVNM_138423
NM_177974		c.T201G
c.T201G		p.N67K
p.N67K		19.942.557E-5Toma2013 E
MMRN2     MT_76chr10:
88703106-88703106		GAexonicPaternalstopgainNM_024756c.C1435Tp.Q479X37.05.802E-5Toma2013 E
SV2B     MT_76chr15:
91832784-91832784		TGexonicMaternalnonsynonymous SNVNM_001167580
NM_014848		c.T1289G
c.T1742G		p.F430C
p.F581C		25.54.942E-5Toma2013 E
RASL12     MT_76chr15:
65350778-65350778		TCexonicMaternalnonsynonymous SNVNM_001307930
NM_016563		c.A355G
c.A412G		p.M119V
p.M138V		17.373.573E-5Toma2013 E
DSG1     MT_76chr18:
28926066-28926066		TCexonicMaternalnonsynonymous SNVNM_001942c.T2005Cp.C669R10.771.651E-5Toma2013 E
CHST4     MT_76chr16:
71571290-71571290		ACexonicPaternalnonsynonymous SNVNM_001166395
NM_005769		c.A710C
c.A710C		p.K237T
p.K237T		11.562.478E-5Toma2013 E
MIIP     SJD_10chr1:
12082414-12082414		ACexonicPaternalnonsynonymous SNVNM_021933c.A377Cp.E126A14.748.653E-6Toma2013 E
LRRC8E     MT_76chr19:
7965638-7965640		TCATexonicMaternalframeshift deletionNM_001268285
NM_025061
NM_001268284		c.1845_1846del
c.2232_2233del
c.2232_2233del		p.L615fs
p.L744fs
p.L744fs		--Toma2013 E
IFT172     SJD_10chr2:
27684231-27684231		CGexonicPaternalnonsynonymous SNVNM_015662c.G2347Cp.A783P34.0-Toma2013 E
UBR4     SJD_10chr1:
19439148-19439148		CAexonicPaternalnonsynonymous SNVNM_020765c.G11671Tp.A3891S32.0-Toma2013 E
MAP3K20     SJD_10chr2:
174081896-174081896		GCexonicMaternalnonsynonymous SNVNM_016653
NM_133646		c.G905C
c.G905C		p.S302T
p.S302T		15.54-Toma2013 E
GPD2     SJD_10chr2:
157427677-157427677		CTexonicMaternalnonsynonymous SNVNM_000408
NM_001083112		c.C1640T
c.C1640T		p.T547I
p.T547I		18.25-Toma2013 E
IRAK1BP1     SJD_10chr6:
79607982-79607982		AGexonicPaternalnonsynonymous SNVNM_001010844c.A714Gp.I238M12.157.154E-5Toma2013 E
CD14     SJD_10chr5:
140012397-140012397		CTexonicPaternalnonsynonymous SNVNM_000591
NM_001040021
NM_001174104
NM_001174105		c.G172A
c.G172A
c.G172A
c.G172A		p.E58K
p.E58K
p.E58K
p.E58K		18.42-Toma2013 E
C6orf118     SJD_10chr6:
165715177-165715177		CTexonicPaternalnonsynonymous SNVNM_144980c.G634Ap.A212T9.8587.419E-5Toma2013 E
WASF1     SJD_10chr6:
110423393-110423393		CTexonicPaternalnonsynonymous SNVNM_001024936
NM_001024934
NM_001024935
NM_003931		c.G920A
c.G920A
c.G920A
c.G920A		p.R307H
p.R307H
p.R307H
p.R307H		18.591.816E-5Toma2013 E
ADCY8     SJD_10chr8:
131921998-131921998		CTexonicPaternalstopgainNM_001115c.G1596Ap.W532X54.0-Toma2013 E
ABHD11     SJD_10chr7:
73150986-73150986		GAexonicPaternalnonsynonymous SNVNM_001145364
NM_148912
NM_148913		c.C680T
c.C851T
c.C830T		p.P227L
p.P284L
p.P277L		25.1-Toma2013 E
HOGA1     SJD_10chr10:
99361725-99361725		GAexonicMaternalnonsynonymous SNVNM_001134670
NM_138413		c.G323A
c.G812A		p.R108H
p.R271H		35.03.854E-5Toma2013 E
MFSD14B     SJD_10chr9:
97207468-97207469		AAAintronicMaternal--Toma2013 E
CLMP     SJD_10chr11:
122953914-122953914		GCexonicMaternalnonsynonymous SNVNM_024769c.C558Gp.D186E15.68-Toma2013 E
NLRP14     SJD_10chr11:
7079615-7079615		GAexonicMaternalnonsynonymous SNVNM_176822c.G2567Ap.G856D10.757.423E-5Toma2013 E
IFT81     SJD_10chr12:
110566766-110566766		GAexonicPaternalnonsynonymous SNVNM_001143779
NM_014055
NM_031473		c.G260A
c.G260A
c.G260A		p.R87H
p.R87H
p.R87H		25.18.242E-6Toma2013 E
NAT10     SJD_10chr11:
34167721-34167721		AAAexonicMaternalframeshift insertionNM_001144030
NM_024662		c.2844dupA
c.3060dupA		p.K948fs
p.K1020fs		--Toma2013 E
GPR84     SJD_10chr12:
54756740-54756741		TGTexonicMaternalframeshift deletionNM_020370c.895delCp.Q299fs-3.295E-5Toma2013 E
ABCB9     SJD_10chr12:
123444365-123444365		CTexonicPaternalnonsynonymous SNVNM_001243013
NM_001243014
NM_019624
NM_019625
NM_203444		c.G418A
c.G418A
c.G418A
c.G418A
c.G418A		p.V140M
p.V140M
p.V140M
p.V140M
p.V140M		14.426.112E-5Toma2013 E
CHGA     SJD_10chr14:
93401174-93401174		TCexonicPaternalnonsynonymous SNVNM_001301690
NM_001275		c.T866C
c.T1319C		p.I289T
p.I440T		14.552.503E-5Toma2013 E
CLEC14A     SJD_10chr14:
38724806-38724806		CTexonicMaternalnonsynonymous SNVNM_175060c.G422Ap.R141Q16.825.299E-5Toma2013 E
TUBA8     SJD_10chr22:
18609783-18609783		GAexonicMaternalstopgainNM_001193414
NM_018943		c.G840A
c.G1038A		p.W280X
p.W346X		38.01.664E-5Toma2013 E
PREX1     SJD_10chr20:
47271842-47271842		TCexonicMaternalnonsynonymous SNVNM_020820c.A2195Gp.Y732C14.754.563E-5Toma2013 E
ATP1A4     SJD_34chr1:
160143953-160143953		ATexonicPaternalstopgainNM_144699c.A2044Tp.K682X40.0-Toma2013 E
PAX7     SJD_34chr1:
18960904-18960904		CTexonicPaternalnonsynonymous SNVNM_001135254
NM_002584
NM_013945		c.C193T
c.C193T
c.C193T		p.H65Y
p.H65Y
p.H65Y		27.4-Toma2013 E
FLNB     SJD_34chr3:
58134022-58134022		GTexonicPaternalnonsynonymous SNVNM_001164319
NM_001164318
NM_001457
NM_001164317		c.G5746T
c.G5785T
c.G5818T
c.G5911T		p.A1916S
p.A1929S
p.A1940S
p.A1971S		36.01.671E-5Toma2013 E
SNTG2     SJD_34chr2:
1271174-1271174		TCexonicMaternalnonsynonymous SNVNM_018968c.T1115Cp.L372S13.32-Toma2013 E
GRSF1     SJD_34chr4:
71691057-71691057		TCexonicMaternalnonsynonymous SNVNM_001098477
NM_002092		c.A863G
c.A1349G		p.H288R
p.H450R		19.413.0E-4Toma2013 E
SHOX2     SJD_34chr3:
157820628-157820628		CTexonicMaternalnonsynonymous SNVNM_001163678
NM_006884
NM_003030		c.G394A
c.G394A
c.G466A		p.D132N
p.D132N
p.D156N		21.44.942E-5Toma2013 E
TMEM106B     SJD_34chr7:
12258122-12258122		GAexonicMaternalnonsynonymous SNVNM_001134232
NM_018374		c.G256A
c.G256A		p.D86N
p.D86N		33.0-Toma2013 E
MAML3     SJD_34chr4:
140811293-140811293		GAexonicMaternalnonsynonymous SNVNM_018717c.C1297Tp.R433W14.893.317E-5Toma2013 E
ZMIZ2     SJD_34chr7:
44802861-44802861		GAexonicMaternalnonsynonymous SNVNM_174929
NM_001300959
NM_031449		c.G1631A
c.G1535A
c.G1709A		p.R544Q
p.R512Q
p.R570Q		22.53.32E-5Toma2013 E
SOSTDC1     SJD_34chr7:
16502441-16502441		TCexonicMaternalnonsynonymous SNVNM_015464c.A353Gp.Y118C16.22-Toma2013 E
HRASLS5     SJD_34chr11:
63233635-63233635		TGexonicPaternalnonsynonymous SNVNM_001146728
NM_001146729
NM_054108		c.A694C
c.A664C
c.A694C		p.N232H
p.N222H
p.N232H		20.7-Toma2013 E
TEX36     SJD_34chr10:
127350536-127350536		ATexonicPaternalnonsynonymous SNVNM_001128202c.T62Ap.I21N10.888.0E-4Toma2013 E
ZPR1     SJD_34chr11:
116655126-116655126		TCexonicMaternalnonsynonymous SNVNM_001317086
NM_003904		c.A697G
c.A859G		p.N233D
p.N287D		34.0-Toma2013 E
KCTD21     SJD_34chr11:
77885347-77885347		TCexonicPaternalnonsynonymous SNVNM_001029859c.A254Gp.D85G24.6-Toma2013 E
TECTA     SJD_34chr11:
121028796-121028796		CTexonicMaternalstopgainNM_005422c.C4552Tp.Q1518X44.0-Toma2013 E
ARHGEF12     SJD_34chr11:
120291542-120291542		GAexonicPaternalnonsynonymous SNVNM_001198665
NM_015313		c.G223A
c.G280A		p.V75I
p.V94I		33.04.217E-5Toma2013 E
MAX     SJD_34chr14:
65544567-65544567		GAintronicPaternal4.095-Toma2013 E
KRT84     SJD_34chr12:
52776827-52776827		GAexonicPaternalnonsynonymous SNVNM_033045c.C778Tp.R260W18.072.491E-5Toma2013 E
ZNF347     SJD_34chr19:
53644207-53644209		TAATexonicPaternalframeshift deletionNM_001172674
NM_001172675
NM_032584		c.1875_1876del
c.1875_1876del
c.1872_1873del		p.P625fs
p.P625fs
p.P624fs		--Toma2013 E
CCDC105     SJD_34chr19:
15131319-15131319		GAexonicPaternalnonsynonymous SNVNM_173482c.G722Ap.R241Q15.222.0E-4Toma2013 E
PAX3     SJD_49chr2:
223096868-223096868		TAexonicMaternalnonsynonymous SNVNM_001127366
NM_181457
NM_181458
NM_181459
NM_181460
NM_181461		c.A718T
c.A721T
c.A721T
c.A721T
c.A721T
c.A721T		p.T240S
p.T241S
p.T241S
p.T241S
p.T241S
p.T241S		29.63.0E-4Toma2013 E
TMEM198     SJD_49chr2:
220414569-220414569		GAexonicMaternalnonsynonymous SNVNM_001005209
NM_001303098		c.G1076A
c.G1076A		p.R359Q
p.R359Q		32.08.265E-5Toma2013 E
PJA2     SJD_49chr5:
108714917-108714917		TAexonicMaternalnonsynonymous SNVNM_014819c.A271Tp.S91C10.95-Toma2013 E
RUFY3     SJD_49chr4:
71634283-71634283		AGexonicMaternalnonsynonymous SNVNM_001037442
NM_001130709
NM_014961
NM_001291993
NM_001291994		c.A601G
c.A781G
c.A601G
c.A442G
c.A655G		p.M201V
p.M261V
p.M201V
p.M148V
p.M219V		15.331.0E-4Toma2013 E
MTO1     SJD_49chr6:
74207618-74207618		CTexonicMaternalnonsynonymous SNVNM_012123
NM_001123226
NM_133645		c.C1916T
c.C2036T
c.C1991T		p.T639M
p.T679M
p.T664M		17.373.338E-5Toma2013 E
KCNQ5     SJD_49chr6:
73900363-73900363		GAexonicMaternalnonsynonymous SNVNM_001160134
NM_001160130
NM_001160132
NM_019842
NM_001160133		c.G1315A
c.G1618A
c.G1675A
c.G1645A
c.G1702A		p.V439I
p.V540I
p.V559I
p.V549I
p.V568I		32.0-Toma2013 E
CSMD3     SJD_49chr8:
113599372-113599372		TGexonicMaternalnonsynonymous SNVNM_052900
NM_198123
NM_198124		c.A3496C
c.A3808C
c.A3688C		p.S1166R
p.S1270R
p.S1230R		14.229.091E-5Toma2013 E
NRG1     SJD_49chr8:
32617875-32617875		CGexonicPaternalnonsynonymous SNVNM_001159996
NM_001160004
NM_001160008
NM_013957
NM_013960
NM_013964
NM_013956		c.C757G
c.C1210G
c.C1210G
c.C1210G
c.C1219G
c.C1219G
c.C1234G		p.H253D
p.H404D
p.H404D
p.H404D
p.H407D
p.H407D
p.H412D		19.28.251E-6Toma2013 E
STIM1     SJD_49chr11:
4091409-4091409		AGexonicPaternalnonsynonymous SNVNM_001277961
NM_001277962
NM_003156		c.A767G
c.A767G
c.A767G		p.Q256R
p.Q256R
p.Q256R		26.31.648E-5Toma2013 E
KCNQ3     SJD_49chr8:
133142164-133142164		GAexonicMaternalnonsynonymous SNVNM_001204824
NM_004519		c.C1604T
c.C1964T		p.T535M
p.T655M		4.2352.0E-4Toma2013 E
P2RX4     SJD_49chr12:
121666863-121666863		GAexonicMaternalnonsynonymous SNVNM_001261397
NM_001261398
NM_002560
NM_001256796		c.G764A
c.G845A
c.G845A
c.G893A		p.R255Q
p.R282Q
p.R282Q
p.R298Q		13.338.269E-6Toma2013 E
SCUBE2     SJD_49chr11:
9043479-9043479		CGexonicPaternalnonsynonymous SNVNM_001170690
NM_020974		c.G2215C
c.G2707C		p.D739H
p.D903H		29.01.649E-5Toma2013 E
GJB6     SJD_49chr13:
20796930-20796930		AATexonicMaternalframeshift insertionNM_001110221
NM_006783
NM_001110220
NM_001110219		c.689dupA
c.689dupA
c.689dupA
c.689dupA		p.N230fs
p.N230fs
p.N230fs
p.N230fs		-3.0E-4Toma2013 E
RXFP2     SJD_49chr13:
32366048-32366048		CGexonicPaternalnonsynonymous SNVNM_001166058
NM_130806		c.C1179G
c.C1251G		p.I393M
p.I417M		17.82-Toma2013 E
ZKSCAN2     SJD_49chr16:
25266562-25266562		TCexonicMaternalnonsynonymous SNVNM_001012981c.A551Gp.N184S9.433-Toma2013 E
MYH6     SJD_49chr14:
23869560-23869560		CGexonicPaternalnonsynonymous SNVNM_002471c.G1486Cp.V496L22.88.237E-6Toma2013 E
KEAP1     SJD_49chr19:
10610628-10610633		CTGCCCCexonicMaternalframeshift deletionNM_012289
NM_203500		c.77_81del
c.77_81del		p.G26fs
p.G26fs		--Toma2013 E
STX10     SJD_49chr19:
13255274-13255274		CAexonicMaternalnonsynonymous SNVNM_001271611
NM_003765		c.G553T
c.G700T		p.V185L
p.V234L		8.386-Toma2013 E
SMTN     SJD_49chr22:
31487777-31487777		CTexonicMaternalnonsynonymous SNVNM_001207018
NM_001207017
NM_006932
NM_134269
NM_134270		c.C1744T
c.C1738T
c.C1576T
c.C1576T
c.C1576T		p.H582Y
p.H580Y
p.H526Y
p.H526Y
p.H526Y		16.37-Toma2013 E
PLTP     SJD_49chr20:
44536520-44536520		GAexonicMaternalnonsynonymous SNVNM_001242920
NM_001242921
NM_182676
NM_006227		c.C224T
c.C245T
c.C353T
c.C509T		p.T75M
p.T82M
p.T118M
p.T170M		18.366.032E-5Toma2013 E
ALAS2     SJD_49chrX:
55039960-55039960		GAexonicMaternalnonsynonymous SNVNM_001037967
NM_000032
NM_001037968		c.C1448T
c.C1559T
c.C1520T		p.P483L
p.P520L
p.P507L		23.30.0014Toma2013 E
KDM5C     SJD_49chrX:
53240828-53240828		TCexonicMaternalnonsynonymous SNVNM_001146702
NM_001282622
NM_004187		c.A1051G
c.A1249G
c.A1252G		p.T351A
p.T417A
p.T418A		17.69-Toma2013 E
METTL13     SJD_50chr1:
171759604-171759604		GAexonicMaternalnonsynonymous SNVNM_001007239
NM_014955
NM_015935		c.G854A
c.G1064A
c.G1322A		p.R285Q
p.R355Q
p.R441Q		27.72.638E-5Toma2013 E
FAAH2     SJD_49chrX:
57313299-57313299		TGexonicMaternalnonsynonymous SNVNM_174912c.T41Gp.L14W8.683-Toma2013 E
GALNTL6     SJD_50chr4:
173150811-173150811		TGexonicMaternalnonsynonymous SNVNM_001034845c.T143Gp.F48C17.32-Toma2013 E
TEDDM1     SJD_50chr1:
182369374-182369374		AGexonicMaternalnonsynonymous SNVNM_172000c.T247Cp.C83R11.49-Toma2013 E
ZC3H3     SJD_50chr8:
144550669-144550669		CTexonicMaternalnonsynonymous SNVNM_015117c.G1988Ap.R663Q9.081.0E-4Toma2013 E
GLCCI1     SJD_50chr7:
8126004-8126004		GAexonicPaternalnonsynonymous SNVNM_138426c.G1480Ap.V494I13.162.471E-5Toma2013 E
ZFHX3     SJD_50chr16:
72821344-72821344		GAexonicMaternalnonsynonymous SNVNM_001164766
NM_006885		c.C8089T
c.C10831T		p.H2697Y
p.H3611Y		5.0290.0079Toma2013 E
FBXO22     SJD_50chr15:
76225439-76225443		AATAAAexonicPaternalframeshift deletionNM_147188c.1209_1212delp.K403fs--Toma2013 E
LRRN4     SJD_50chr20:
6022734-6022734		CAexonicMaternalnonsynonymous SNVNM_152611c.G1157Tp.G386V12.45-Toma2013 E
XRCC1     SJD_50chr19:
44057635-44057635		GCexonicPaternalnonsynonymous SNVNM_006297c.C519Gp.F173L20.02.471E-5Toma2013 E
MAP7D2     SJD_50chrX:
20029039-20029039		CTexonicMaternalnonsynonymous SNVNM_001168466
NM_001168467
NM_152780
NM_001168465		c.G1946A
c.G1925A
c.G2081A
c.G2204A		p.G649D
p.G642D
p.G694D
p.G735D		25.15.701E-5Toma2013 E
RBL1     SJD_50chr20:
35684650-35684650		CTexonicMaternalnonsynonymous SNVNM_002895
NM_183404		c.G1262A
c.G1262A		p.R421H
p.R421H		21.99.437E-6Toma2013 E
LAMC1     SJD_50chr1:
183094556-183094556		CTexonicMaternalnonsynonymous SNVNM_002293c.C2672Tp.T891I28.79.061E-5Toma2013 E
FNDC7     SJD_50chr1:
109264962-109264962		CTexonicPaternalnonsynonymous SNVNM_001144937c.C604Tp.R202W16.135.314E-5Toma2013 E
IGFN1     SJD_50chr1:
201190758-201190758		CTexonicPaternalnonsynonymous SNVNM_001164586c.C10085Tp.T3362M18.434.137E-5Toma2013 E
NCF2     SJD_50chr1:
183556078-183556078		AGexonicPaternalnonsynonymous SNVNM_000433
NM_001190789
NM_001190794
NM_001127651		c.T209C
c.T209C
c.T209C
c.T209C		p.L70S
p.L70S
p.L70S
p.L70S		16.03-Toma2013 E
MRPS22     SJD_50chr3:
139065865-139065865		GAexonicPaternalnonsynonymous SNVNM_020191c.G318Ap.M106I22.3-Toma2013 E
HYAL1     SJD_50chr3:
50340219-50340219		CTexonicMaternalnonsynonymous SNVNM_033159
NM_153282
NM_153281		c.G169A
c.G169A
c.G169A		p.D57N
p.D57N
p.D57N		19.268.26E-6Toma2013 E
CCDC96     SJD_50chr4:
7043539-7043539		CAexonicMaternalnonsynonymous SNVNM_153376c.G1127Tp.R376L19.641.0E-4Toma2013 E
HES1     SJD_50chr3:
193854213-193854213		CTexonicMaternalnonsynonymous SNVNM_005524c.C44Tp.A15V29.8-Toma2013 E
SLC45A4     SJD_50chr8:
142228160-142228160		CTexonicPaternalnonsynonymous SNVNM_001080431
NM_001286646
NM_001286648		c.G1426A
c.G1579A
c.G1426A		p.V476M
p.V527M
p.V476M		25.54.316E-5Toma2013 E
LMTK2     SJD_50chr7:
97821294-97821294		CTexonicMaternalnonsynonymous SNVNM_014916c.C1517Tp.P506L21.5-Toma2013 E
DCHS1     SJD_50chr11:
6661841-6661841		CTexonicMaternalnonsynonymous SNVNM_003737c.G1004Ap.R335Q16.18.276E-6Toma2013 E
NDOR1     SJD_50chr9:
140107044-140107044		TCexonicMaternalnonsynonymous SNVNM_001144026
NM_001144027
NM_001144028
NM_014434		c.T304C
c.T304C
c.T304C
c.T304C		p.Y102H
p.Y102H
p.Y102H
p.Y102H		21.73.299E-5Toma2013 E
ISG20     SJD_50chr15:
89198692-89198692		TCexonicMaternalnonsynonymous SNVNM_001303235
NM_001303233
NM_001303236
NM_001303237
NM_002201
NM_001303234		c.T443C
c.T476C
c.T443C
c.T416C
c.T476C
c.T476C		p.M148T
p.M159T
p.M148T
p.M139T
p.M159T
p.M159T		12.26-Toma2013 E
GNB5     SJD_50chr15:
52427912-52427912		GCexonicMaternalnonsynonymous SNVNM_006578
NM_016194		c.C543G
c.C669G		p.D181E
p.D223E		25.68.322E-6Toma2013 E
FAM104A     SJD_50chr17:
71205688-71205688		GAexonicMaternalstopgainNM_032837
NM_001098832
NM_001289412		c.C541T
c.C604T
c.C403T		p.R181X
p.R202X
p.R135X		24.5-Toma2013 E
SLC4A1     SJD_50chr17:
42335140-42335140		GCexonicMaternalnonsynonymous SNVNM_000342c.C1318Gp.L440V17.271.653E-5Toma2013 E
KLK1     SJD_50chr19:
51326994-51326994		ACexonicMaternalnonsynonymous SNVNM_002257c.T11Gp.L4R14.03.32E-5Toma2013 E
DNM2     SJD_50chr19:
10906796-10906796		ACexonicPaternalnonsynonymous SNVNM_001005360
NM_001190716
NM_004945		c.A1256C
c.A1256C
c.A1256C		p.K419T
p.K419T
p.K419T		24.9-Toma2013 E
LAMA5     SJD_50chr20:
60902604-60902604		GAexonicMaternalnonsynonymous SNVNM_005560c.C4919Tp.S1640L17.224.0E-4Toma2013 E
ASXL1     SJD_50chr20:
31022346-31022346		GAexonicMaternalnonsynonymous SNVNM_015338c.G1831Ap.A611T15.149.246E-5Toma2013 E
PPIL2     SJD_50chr22:
22048931-22048931		GTexonicMaternalnonsynonymous SNVNM_014337
NM_148175
NM_148176		c.G1246T
c.G1246T
c.G1246T		p.D416Y
p.D416Y
p.D416Y		19.11-Toma2013 E
OGFR     SJD_50chr20:
61444324-61444324		GAexonicMaternalnonsynonymous SNVNM_007346c.G1357Ap.D453N14.08-Toma2013 E
CELSR1     SJD_50chr22:
46805736-46805736		GCexonicMaternalnonsynonymous SNVNM_014246c.C4975Gp.Q1659E13.86-Toma2013 E
DDX17     SJD_50chr22:
38895486-38895486		GAexonicPaternalnonsynonymous SNVNM_001098504
NM_006386		c.C457T
c.C457T		p.R153C
p.R153C		16.178.238E-6Toma2013 E
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