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Exact

Results for "Takata2018"

Variant Events: 327

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
TTC16     JASD_Fam0095chr9:
130487112-130487112
GAexonicDe novononsynonymous SNVNM_001317037
NM_144965
c.G1156A
c.G1195A
p.E386K
p.E399K
12.07-Takata2018 E
MVB12B     JASD_Fam0224chr9:
129184210-129184210
ATexonicDe novononsynonymous SNVNM_033446c.A740Tp.N247I23.1-Takata2018 E
ENG     JASD_Fam0125chr9:
130578257-130578257
AGexonicDe novononsynonymous SNVNM_000118
NM_001114753
NM_001278138
c.T1817C
c.T1817C
c.T1271C
p.L606P
p.L606P
p.L424P
21.0-Takata2018 E
CDK9     JASD_Fam0010chr9:
130549061-130549061
GCexonicDe novosynonymous SNVNM_001261c.G174Cp.G58G--Takata2018 E
ZER1     JASD_Fam0077chr9:
131503896-131503896
CTexonicDe novostopgainNM_006336c.G1655Ap.W552X42.0-Takata2018 E
GOLGA2     JASD_Fam0130chr9:
131020733-131020733
CTsplicingDe novosplicing11.99-Takata2018 E
NTNG2     JASD_Fam0130chr9:
135073659-135073659
GTexonicDe novononsynonymous SNVNM_032536c.G520Tp.A174S31.0-Takata2018 E
ENDOG     JASD_Fam0138chr9:
131584651-131584651
GAexonicDe novononsynonymous SNVNM_004435c.G656Ap.G219D26.7-Takata2018 E
QSOX2     JASD_Fam0217chr9:
139108459-139108459
TCexonicDe novononsynonymous SNVNM_181701c.A1196Gp.N399S22.4-Takata2018 E
SURF6     JASD_Fam0019chr9:
136201373-136201375
CTTCexonicDe novoframeshift deletionNM_001278942
NM_006753
c.157_158del
c.157_158del
p.K53fs
p.K53fs
--Takata2018 E
FBXW5     JASD_Fam0256chr9:
139836869-139836870
TGTexonicDe novoframeshift deletionNM_018998c.724delCp.Q242fs--Takata2018 E
PMPCA     JASD_Fam0064chr9:
139313507-139313507
GCexonicDe novononsynonymous SNVNM_001282944
NM_001282946
NM_015160
c.G819C
c.G912C
c.G1212C
p.M273I
p.M304I
p.M404I
22.6-Takata2018 E
WDFY4     JASD_Fam0180chr10:
50155005-50155005
CTexonicDe novosynonymous SNVNM_020945c.C7968Tp.C2656C4.255-Takata2018 E
MKX     JASD_Fam0146chr10:
28030357-28030357
GAexonicDe novononsynonymous SNVNM_001242702
NM_173576
c.C265T
c.C265T
p.L89F
p.L89F
32.0-Takata2018 E
RPS24     JASD_Fam0082chr10:
79814442-79814442
TAexonicDe novononsynonymous SNVNM_001142285c.T544Ap.L182M9.131-Takata2018 E
COL13A1     JASD_Fam0034chr10:
71648062-71648063
TCTexonicDe novoframeshift deletionNM_080798
NM_080805
NM_001130103
NM_080800
NM_080801
NM_080802
c.412delC
c.439delC
c.526delC
c.526delC
c.526delC
c.526delC
p.P138fs
p.P147fs
p.P176fs
p.P176fs
p.P176fs
p.P176fs
--Takata2018 E
SLC16A12     JASD_Fam0204chr10:
91198564-91198564
GAexonicDe novosynonymous SNVNM_213606c.C825Tp.Y275Y--Takata2018 E
STAMBPL1     JASD_Fam0126chr10:
90668462-90668462
ATexonicDe novononsynonymous SNVNM_020799c.A252Tp.L84F17.95-Takata2018 E
GPAM     JASD_Fam0002chr10:
113941493-113941493
GAexonicDe novononsynonymous SNVNM_001244949
NM_020918
c.C50T
c.C50T
p.P17L
p.P17L
18.04-Takata2018 E
TRIM8     JASD_Fam0062chr10:
104416554-104416554
TTGexonicDe novoframeshift insertionNM_030912c.1100dupGp.C367fs--Takata2018 E
CPXM2     JASD_Fam0016chr10:
125521594-125521594
GAexonicDe novononsynonymous SNVNM_198148c.C1571Tp.A524V33.0-Takata2018 E
FAM160B1     JASD_Fam0122chr10:
116620601-116620601
GAexonicDe novononsynonymous SNVNM_001135051
NM_020940
c.G2041A
c.G2041A
p.V681M
p.V681M
17.64-Takata2018 E
HBG1     JASD_Fam0016chr11:
5269621-5269621
CTexonicDe novononsynonymous SNVNM_000559c.G412Ap.V138M10.648.244E-6Takata2018 E
TCERG1L     JASD_Fam0021chr10:
133109867-133109867
CTexonicDe novononsynonymous SNVNM_174937c.G32Ap.R11Q8.017-Takata2018 E
CCKBR     JASD_Fam0199chr11:
6281224-6281224
CTexonicDe novosynonymous SNVNM_176875c.C66Tp.C22C--Takata2018 E
OR52N5     JASD_Fam0042chr11:
5799207-5799207
TCexonicDe novononsynonymous SNVNM_001001922c.A658Gp.I220V9.167-Takata2018 E
SLC5A12     JASD_Fam0242chr11:
26732893-26732893
CTexonicDe novononsynonymous SNVNM_178498c.G418Ap.G140R33.0-Takata2018 E
ABCC8     JASD_Fam0235chr11:
17436882-17436882
CCTexonicDe novoframeshift insertionNM_000352
NM_001287174
c.2259dupA
c.2262dupA
p.E754fs
p.E755fs
--Takata2018 E
LMO2     JASD_Fam0087chr11:
33890952-33890952
CTexonicDe novononsynonymous SNVNM_005574c.G188Ap.G63D15.02-Takata2018 E
WT1     JASD_Fam0197chr11:
32410678-32410678
CGexonicDe novononsynonymous SNVNM_000378
NM_001198552
NM_001198551
NM_024424
NM_024426
c.G1420C
c.G793C
c.G835C
c.G1471C
c.G1480C
p.A474P
p.A265P
p.A279P
p.A491P
p.A494P
28.1-Takata2018 E
EHD1     JASD_Fam0226chr11:
64622239-64622239
CTexonicDe novononsynonymous SNVNM_006795
NM_001282445
NM_001282444
c.G1171A
c.G1213A
c.G1171A
p.A391T
p.A405T
p.A391T
19.5-Takata2018 E
OR4C46     JASD_Fam0182chr11:
51515545-51515545
GCexonicDe novononsynonymous SNVNM_001004703c.G264Cp.K88N0.4284.119E-5Takata2018 E
SF3B2     JASD_Fam0108chr11:
65826778-65826778
AGexonicDe novononsynonymous SNVNM_006842c.A1289Gp.D430G17.65-Takata2018 E
DPF2     JASD_Fam0016chr11:
65111483-65111483
CTexonicDe novononsynonymous SNVNM_006268c.C580Tp.R194C18.638.259E-6Takata2018 E
ANKRD13D     JASD_Fam0145chr11:
67056954-67056954
TCexonicDe novononsynonymous SNVNM_207354c.T23Cp.F8S18.33-Takata2018 E
GRK2     JASD_Fam0070chr11:
67051346-67051346
CTexonicDe novononsynonymous SNVNM_001619c.C1417Tp.P473S25.1-Takata2018 E
ARRB1     JASD_Fam0039chr11:
74994486-74994486
CAexonicDe novononsynonymous SNVNM_004041
NM_020251
c.G199T
c.G199T
p.D67Y
p.D67Y
24.9-Takata2018 E
RPS6KB2     JASD_Fam0011chr11:
67198951-67198951
GAexonicDe novononsynonymous SNVNM_003952c.G422Ap.G141D16.85-Takata2018 E
TPI1     JASD_Fam0055chr12:
6976676-6976676
GAexonicDe novosynonymous SNVNM_001159287c.G57Ap.G19G--Takata2018 E
VWF     JASD_Fam0076chr12:
6121251-6121251
AGsplicingDe novosplicing19.04-Takata2018 E
SSPN     JASD_Fam0218chr12:
26377307-26377307
AGexonicDe novononsynonymous SNVNM_001135823
NM_005086
c.A52G
c.A361G
p.M18V
p.M121V
10.038.238E-6Takata2018 E
A2M     JASD_Fam0110chr12:
9230450-9230450
GAexonicDe novosynonymous SNVNM_000014c.C3123Tp.L1041L--Takata2018 E
ANP32D     JASD_Fam0067chr12:
48866524-48866528
ACAGTAexonicDe novoframeshift deletionNM_012404c.78_81delp.N26fs--Takata2018 E
ERGIC2     JASD_Fam0023chr12:
29496095-29496095
CCAexonicDe novoframeshift insertionNM_016570c.945dupTp.V316fs--Takata2018 E
KRT85     JASD_Fam0133chr12:
52754716-52754716
GAexonicDe novononsynonymous SNVNM_001300810
NM_002283
c.C809T
c.C1445T
p.A270V
p.A482V
14.0-Takata2018 E
SMARCD1     JASD_Fam0107chr12:
50480605-50480605
CTexonicDe novostopgainNM_003076
NM_139071
c.C475T
c.C475T
p.Q159X
p.Q159X
24.0-Takata2018 E
AVPR1A     JASD_Fam0097chr12:
63544381-63544381
GAexonicDe novononsynonymous SNVNM_000706c.C236Tp.T79M24.8-Takata2018 E
KRT18     JASD_Fam0118chr12:
53343125-53343125
CTexonicDe novosynonymous SNVNM_000224
NM_199187
c.C168T
c.C168T
p.G56G
p.G56G
--Takata2018 E
MED13L     JASD_Fam0010chr12:
116403994-116403994
GAexonicDe novononsynonymous SNVNM_015335c.C6280Tp.P2094S24.0-Takata2018 E
PTPN11     JASD_Fam0049chr12:
112926270-112926270
CTexonicDe novononsynonymous SNVNM_002834c.C1403Tp.T468M26.78.236E-6Takata2018 E
ZNF268     JASD_Fam0178chr12:
133779856-133779856
TGexonicDe novononsynonymous SNVNM_001165881
NM_001165882
NM_003415
c.T1584G
c.T1335G
c.T1584G
p.H528Q
p.H445Q
p.H528Q
12.24-Takata2018 E
SPPL3     JASD_Fam0208chr12:
121206844-121206844
CCAGAGexonicDe novoframeshift insertionNM_139015c.520_521insCTCTp.C174fs--Takata2018 E
SPART     JASD_Fam0046chr13:
36909888-36909888
AGexonicDe novononsynonymous SNVNM_001142294
NM_001142295
NM_015087
NM_001142296
c.T80C
c.T80C
c.T80C
c.T80C
p.V27A
p.V27A
p.V27A
p.V27A
23.3-Takata2018 E
SACS     JASD_Fam0010chr13:
23905698-23905698
AGexonicDe novononsynonymous SNVNM_001278055
NM_014363
c.T11876C
c.T12317C
p.L3959P
p.L4106P
12.78-Takata2018 E
ZIC5     JASD_Fam0031chr13:
100623117-100623117
GTexonicDe novosynonymous SNVNM_033132c.C813Ap.G271G--Takata2018 E
RUBCNL     JASD_Fam0254chr13:
46933633-46933633
TGexonicDe novononsynonymous SNVNM_001286766
NM_001286762
NM_001286764
NM_001286765
NM_001286761
NM_001286763
NM_025113
c.A608C
c.A1253C
c.A848C
c.A782C
c.A1253C
c.A1052C
c.A1253C
p.H203P
p.H418P
p.H283P
p.H261P
p.H418P
p.H351P
p.H418P
18.28-Takata2018 E
NALCN     JASD_Fam0014chr13:
101944423-101944423
AGexonicDe novononsynonymous SNVNM_052867c.T965Cp.I322T7.823-Takata2018 E
NALCN     JASD_Fam0114chr13:
101795438-101795438
TGexonicDe novononsynonymous SNVNM_052867c.A2111Cp.D704A10.06-Takata2018 E
LRP10     JASD_Fam0190chr14:
23346233-23346233
CTexonicDe novononsynonymous SNVNM_014045c.C1639Tp.R547C16.79-Takata2018 E
ARHGEF7     JASD_Fam0224chr13:
111927885-111927885
TCexonicDe novononsynonymous SNVNM_001113512
NM_001113513
NM_003899
NM_145735
NM_001113511
c.T1192C
c.T808C
c.T808C
c.T1279C
c.T1342C
p.C398R
p.C270R
p.C270R
p.C427R
p.C448R
23.8-Takata2018 E
IL25     JASD_Fam0133chr14:
23845075-23845075
CTexonicDe novononsynonymous SNVNM_022789
NM_172314
c.C520T
c.C472T
p.R174C
p.R158C
21.38.256E-6Takata2018 E
REM2     JASD_Fam0190chr14:
23355292-23355292
CTexonicDe novosynonymous SNVNM_173527c.C579Tp.I193I22.18.305E-6Takata2018 E
TOMM20L     JASD_Fam0029chr14:
58869468-58869468
GTexonicDe novononsynonymous SNVNM_207377c.G251Tp.W84L2.328-Takata2018 E
NAA30     JASD_Fam0141chr14:
57857680-57857680
CTexonicDe novononsynonymous SNVNM_001011713c.C5Tp.A2V19.42-Takata2018 E
SPTB     JASD_Fam0080chr14:
65220412-65220412
TCexonicDe novononsynonymous SNVNM_001024858c.A6445Gp.T2149A6.447-Takata2018 E
KIAA0586     JASD_Fam0062chr14:
58965637-58965637
GAexonicDe novononsynonymous SNVNM_001244193
NM_014749
NM_001244191
NM_001244190
NM_001244192
NM_001244189
c.G3707A
c.G3899A
c.G3872A
c.G4082A
c.G3995A
c.G4286A
p.C1236Y
p.C1300Y
p.C1291Y
p.C1361Y
p.C1332Y
p.C1429Y
7.047-Takata2018 E
FLRT2     JASD_Fam0172chr14:
86089107-86089108
GTGexonicDe novoframeshift deletionNM_013231c.1250delTp.V417fs--Takata2018 E
PLEKHD1     JASD_Fam0258chr14:
69988999-69988999
GTsplicingDe novosplicing21.8-Takata2018 E
CCDC88C     JASD_Fam0030chr14:
91766302-91766302
CTexonicDe novononsynonymous SNVNM_001080414c.G3748Ap.E1250K35.01.907E-5Takata2018 E
KCNK10     JASD_Fam0002chr14:
88652413-88652413
CTexonicDe novosynonymous SNVNM_021161
NM_138317
NM_138318
c.G1083A
c.G1098A
c.G1098A
p.E361E
p.E366E
p.E366E
--Takata2018 E
PAK6     JASD_Fam0049chr15:
40566347-40566347
AGexonicDe novononsynonymous SNVNM_001276717
NM_001128629
NM_001128628
NM_020168
c.A1748G
c.A1748G
c.A1748G
c.A1748G
p.D583G
p.D583G
p.D583G
p.D583G
24.3-Takata2018 E
NUTM1     JASD_Fam0049chr15:
34649615-34649615
CTexonicDe novostopgainNM_001284293
NM_001284292
NM_175741
c.C3376T
c.C3406T
c.C3322T
p.R1126X
p.R1136X
p.R1108X
41.0-Takata2018 E
SPTBN5     JASD_Fam0110chr15:
42142103-42142103
CTexonicDe novononsynonymous SNVNM_016642c.G10976Ap.C3659Y0.005-Takata2018 E
MGA     JASD_Fam0249chr15:
42058538-42058538
GAexonicDe novononsynonymous SNVNM_001080541
NM_001164273
c.G7631A
c.G8258A
p.G2544E
p.G2753E
18.0-Takata2018 E
CGNL1     JASD_Fam0082chr15:
57810657-57810657
GCexonicDe novononsynonymous SNVNM_032866
NM_001252335
c.G2677C
c.G2677C
p.A893P
p.A893P
13.34-Takata2018 E
DUOX2     JASD_Fam0061chr15:
45403691-45403691
CTexonicDe novosynonymous SNVNM_014080c.G606Ap.Q202Q--Takata2018 E
HERC1     JASD_Fam0053chr15:
64047525-64047525
CTsplicingDe novosplicing33.0-Takata2018 E
HERC1     JASD_Fam0128chr15:
64039940-64039940
GAexonicDe novosynonymous SNVNM_003922c.C2337Tp.L779L--Takata2018 E
SCAPER     JASD_Fam0043chr15:
76726486-76726486
TCexonicDe novononsynonymous SNVNM_020843
NM_001145923
c.A3244G
c.A2506G
p.T1082A
p.T836A
13.81-Takata2018 E
HCN4     JASD_Fam0205chr15:
73614963-73614963
GCexonicDe novosynonymous SNVNM_005477c.C3471Gp.S1157S--Takata2018 E
ZNF710     JASD_Fam0034chr15:
90611437-90611437
CGexonicDe novononsynonymous SNVNM_198526c.C1068Gp.C356W15.99-Takata2018 E
CHRNA3     JASD_Fam0021chr15:
78909435-78909435
TCexonicDe novononsynonymous SNVNM_000743
NM_001166694
c.A308G
c.A308G
p.Y103C
p.Y103C
12.8-Takata2018 E
CHD2     JASD_Fam0016chr15:
93510727-93510727
CTexonicDe novostopgainNM_001271c.C2173Tp.Q725X47.0-Takata2018 E
CHD2     JASD_Fam0011chr15:
93485051-93485051
GTsplicingDe novosplicing23.9-Takata2018 E
MIR662     JASD_Fam0244chr16:
820596-820596
AGdownstreamDe novo18.39-Takata2018 E
MIR662     JASD_Fam0244chr16:
820594-820594
CTdownstreamDe novo14.21-Takata2018 E
HAGH     JASD_Fam0035chr16:
1866933-1866933
GAexonicDe novononsynonymous SNVNM_001286249c.C599Tp.P200L6.918.339E-6Takata2018 E
CACNA1H     JASD_Fam0039chr16:
1259233-1259233
CTexonicDe novononsynonymous SNVNM_001005407
NM_021098
c.C3565T
c.C3565T
p.R1189C
p.R1189C
6.26-Takata2018 E
SRRM2     JASD_Fam0212chr16:
2814953-2814953
GAexonicDe novononsynonymous SNVNM_016333c.G4424Ap.R1475K11.33-Takata2018 E
RNF151     JASD_Fam0040chr16:
2018652-2018652
GAexonicDe novononsynonymous SNVNM_174903c.G464Ap.R155H7.035-Takata2018 E
DNAJA3     JASD_Fam0190chr16:
4493080-4493080
CGexonicDe novosynonymous SNVNM_001286516
NM_001135110
NM_005147
c.C387G
c.C846G
c.C846G
p.G129G
p.G282G
p.G282G
--Takata2018 E
OR1F1     JASD_Fam0023chr16:
3255016-3255016
CTexonicDe novononsynonymous SNVNM_012360c.C770Tp.A257V11.15-Takata2018 E
COX6A2     JASD_Fam0172chr16:
31439149-31439149
AGexonicDe novosynonymous SNVNM_005205c.T240Cp.T80T--Takata2018 E
ERCC4     JASD_Fam0084chr16:
14041797-14041797
ACexonicDe novononsynonymous SNVNM_005236c.A2344Cp.N782H18.42-Takata2018 E
CPNE2     JASD_Fam0236chr16:
57157358-57157358
CGexonicDe novononsynonymous SNVNM_152727c.C900Gp.I300M15.2-Takata2018 E
DNAJA2     JASD_Fam0093chr16:
47007418-47007418
GAexonicDe novosynonymous SNVNM_005880c.C66Tp.N22N--Takata2018 E
EDC4     JASD_Fam0016chr16:
67915593-67915593
GAexonicDe novostopgainNM_014329c.G2849Ap.W950X40.0-Takata2018 E
PLEKHG4     JASD_Fam0049chr16:
67315085-67315085
CTexonicDe novostopgainNM_001129731
NM_001129728
NM_001129729
NM_001129727
c.C568T
c.C811T
c.C811T
c.C811T
p.Q190X
p.Q271X
p.Q271X
p.Q271X
55.0-Takata2018 E
MLKL     JASD_Fam0007chr16:
74709283-74709283
CGexonicDe novononsynonymous SNVNM_152649c.G1210Cp.E404Q18.85-Takata2018 E
DUS2     JASD_Fam0231chr16:
68100248-68100248
GAexonicDe novononsynonymous SNVNM_001271763
NM_001271762
NM_017803
c.G341A
c.G446A
c.G446A
p.R114H
p.R149H
p.R149H
11.028.236E-6Takata2018 E
ADAD2     JASD_Fam0189chr16:
84229845-84229845
CTexonicDe novosynonymous SNVNM_001145400
NM_139174
c.C1395T
c.C1641T
p.H465H
p.H547H
--Takata2018 E
ADAMTS18     JASD_Fam0112chr16:
77325261-77325261
GGTTTCexonicDe novoframeshift insertionNM_199355c.3303_3304insGAAAp.P1102fs--Takata2018 E
ANKRD11     JASD_Fam0196chr16:
89341340-89341340
TGexonicDe novononsynonymous SNVNM_001256183
NM_013275
NM_001256182
c.A7595C
c.A7595C
c.A7595C
p.Q2532P
p.Q2532P
p.Q2532P
19.21-Takata2018 E
FAM92B     JASD_Fam0020chr16:
85133773-85133773
GAexonicDe novononsynonymous SNVNM_198491c.C725Tp.P242L9.962-Takata2018 E
OR1E1     JASD_Fam0074chr17:
3301128-3301128
GAexonicDe novostopgainNM_003553c.C577Tp.R193X18.42-Takata2018 E
PRPF8     JASD_Fam0108chr17:
1561966-1561966
GAexonicDe novononsynonymous SNVNM_006445c.C5230Tp.R1744C20.9-Takata2018 E
MAP2K4     JASD_Fam0020chr17:
11924221-11924221
GAexonicDe novosynonymous SNVNM_001281435
NM_003010
c.G18A
c.G18A
p.P6P
p.P6P
--Takata2018 E
NTN1     JASD_Fam0095chr17:
9143210-9143210
GAexonicDe novosynonymous SNVNM_004822c.G1740Ap.Q580Q--Takata2018 E
MAP2K4     JASD_Fam0020chr17:
11924235-11924235
GAexonicDe novononsynonymous SNVNM_001281435
NM_003010
c.G32A
c.G32A
p.G11D
p.G11D
12.2-Takata2018 E
MAP2K4     JASD_Fam0020chr17:
11924226-11924226
GAexonicDe novononsynonymous SNVNM_001281435
NM_003010
c.G23A
c.G23A
p.G8D
p.G8D
12.08-Takata2018 E
CCDC144NL     JASD_Fam0217chr17:
20799169-20799169
CTexonicDe novosynonymous SNVNM_001004306c.G165Ap.K55K-0.0024Takata2018 E
TRIM16L     JASD_Fam0130chr17:
18638245-18638245
GAexonicDe novosynonymous SNVNM_001037330c.G519Ap.Q173Q6.7541.684E-5Takata2018 E
NEK8     JASD_Fam0112chr17:
27064851-27064851
CTexonicDe novononsynonymous SNVNM_178170c.C904Tp.P302S6.602-Takata2018 E
NOS2     JASD_Fam0160chr17:
26096003-26096004
CTCexonicDe novoframeshift deletionNM_000625c.2033delAp.K678fs--Takata2018 E
GGNBP2     JASD_Fam0061chr17:
34934444-34934444
CTexonicDe novostopgainNM_024835c.C673Tp.R225X38.0-Takata2018 E
SLFN13     JASD_Fam0194chr17:
33768288-33768288
GAexonicDe novononsynonymous SNVNM_144682c.C2020Tp.R674C8.7218.246E-6Takata2018 E
ATP6V0A1     JASD_Fam0063chr17:
40666450-40666450
GAexonicDe novononsynonymous SNVNM_001130020
NM_005177
NM_001130021
c.G2395A
c.G2374A
c.G2392A
p.A799T
p.A792T
p.A798T
35.0-Takata2018 E
ACACA     JASD_Fam0074chr17:
35487135-35487135
GAexonicDe novononsynonymous SNVNM_198837
NM_198838
NM_198834
NM_198836
NM_198839
c.C5404T
c.C5344T
c.C5689T
c.C5578T
c.C5578T
p.R1802W
p.R1782W
p.R1897W
p.R1860W
p.R1860W
20.88.237E-6Takata2018 E
PLEKHM1     JASD_Fam0136chr17:
43535724-43535724
TCexonicDe novononsynonymous SNVNM_014798c.A1390Gp.I464V0.0098.306E-6Takata2018 E
RUNDC1     JASD_Fam0128chr17:
41141433-41141433
CTexonicDe novononsynonymous SNVNM_173079c.C733Tp.L245F25.2-Takata2018 E
SGCA     JASD_Fam0191chr17:
48247675-48247675
CTexonicDe novosynonymous SNVNM_000023c.C919Tp.L307L9.55-Takata2018 E
CDC27     JASD_Fam0072chr17:
45219311-45219311
TCexonicDe novononsynonymous SNVNM_001293091
NM_001114091
NM_001256
NM_001293089
c.A1276G
c.A1477G
c.A1459G
c.A1456G
p.I426V
p.I493V
p.I487V
p.I486V
4.7310.0121Takata2018 E
TOM1L1     JASD_Fam0085chr17:
52978235-52978236
TGTexonicDe novoframeshift deletionNM_005486c.10delGp.G4fs--Takata2018 E
ACSF2     JASD_Fam0039chr17:
48539642-48539642
CTexonicDe novononsynonymous SNVNM_001288971
NM_001288970
NM_001288969
NM_001288972
NM_025149
NM_001288968
c.C125T
c.C476T
c.C566T
c.C125T
c.C605T
c.C680T
p.P42L
p.P159L
p.P189L
p.P42L
p.P202L
p.P227L
25.7-Takata2018 E
UBE2O     JASD_Fam0254chr17:
74392872-74392872
CGexonicDe novononsynonymous SNVNM_022066c.G2146Cp.E716Q13.49-Takata2018 E
TLK2     JASD_Fam0016chr17:
60655885-60655885
ACexonicDe novononsynonymous SNVNM_001284363
NM_006852
NM_001284333
c.A1140C
c.A1236C
c.A1302C
p.R380S
p.R412S
p.R434S
11.56-Takata2018 E
ANKRD12     JASD_Fam0245chr18:
9221974-9221977
CTGACexonicDe novononframeshift deletionNM_001083625
NM_001204056
NM_015208
c.852_854del
c.852_854del
c.921_923del
p.284_285del
p.284_285del
p.307_308del
--Takata2018 E
TSPAN10     JASD_Fam0186chr17:
79612099-79612099
GTexonicDe novounknown9.515-Takata2018 E
CDH2     JASD_Fam0038chr18:
25589713-25589713
GAexonicDe novononsynonymous SNVNM_001308176
NM_001792
c.C577T
c.C670T
p.P193S
p.P224S
33.0-Takata2018 E
MIB1     JASD_Fam0050chr18:
19444568-19444568
CTexonicDe novononsynonymous SNVNM_020774c.C2962Tp.R988C24.08.237E-6Takata2018 E
CXXC1     JASD_Fam0212chr18:
47810914-47810914
GAexonicDe novononsynonymous SNVNM_001101654
NM_014593
c.C1051T
c.C1039T
p.R351W
p.R347W
17.38-Takata2018 E
FHOD3     JASD_Fam0151chr18:
33877804-33877804
CTexonicDe novosynonymous SNVNM_001281739
NM_001281740
NM_025135
c.C6T
c.C6T
c.C6T
p.A2A
p.A2A
p.A2A
--Takata2018 E
HMG20B     JASD_Fam0262chr19:
3573739-3573739
GAexonicDe novononsynonymous SNVNM_006339c.G88Ap.V30I14.31-Takata2018 E
AP3D1     JASD_Fam0041chr19:
2137725-2137725
CAsplicingDe novosplicing20.1-Takata2018 E
MUC16     JASD_Fam0024chr19:
8976388-8976388
GGTGCexonicDe novononframeshift insertionNM_024690c.42439_42440insGCAp.T14147delinsST--Takata2018 E
MARCH2     JASD_Fam0257chr19:
8495673-8495673
GTexonicDe novosynonymous SNVNM_001005415
NM_016496
c.G504T
c.G504T
p.R168R
p.R168R
--Takata2018 E
ZNF440     JASD_Fam0060chr19:
11941128-11941128
ATexonicDe novononsynonymous SNVNM_152357c.A34Tp.N12Y12.29-Takata2018 E
ZNF426     JASD_Fam0053chr19:
9640036-9640036
AGexonicDe novononsynonymous SNVNM_001300883
NM_024106
c.T571C
c.T685C
p.C191R
p.C229R
10.77-Takata2018 E
NOTCH3     JASD_Fam0030chr19:
15290891-15290891
TCexonicDe novononsynonymous SNVNM_000435c.A3319Gp.M1107V3.082-Takata2018 E
PTGER1     JASD_Fam0100chr19:
14584644-14584644
CAexonicDe novosynonymous SNVNM_000955c.G489Tp.A163A--Takata2018 E
CHERP     JASD_Fam0071chr19:
16630447-16630447
TCexonicDe novononsynonymous SNVNM_006387c.A2542Gp.M848V15.57-Takata2018 E
CYP4F11     JASD_Fam0045chr19:
16045146-16045146
CGexonicDe novononsynonymous SNVNM_021187
NM_001128932
c.G73C
c.G73C
p.V25L
p.V25L
8.039-Takata2018 E
KIAA1683     JASD_Fam0054chr19:
18377276-18377276
CTexonicDe novosynonymous SNVNM_001145304
NM_001145305
NM_025249
c.G1074A
c.G936A
c.G1074A
p.T358T
p.T312T
p.T358T
--Takata2018 E
CHERP     JASD_Fam0160chr19:
16643425-16643425
CGexonicDe novononsynonymous SNVNM_006387c.G658Cp.D220H23.9-Takata2018 E
MAG     JASD_Fam0248chr19:
35791072-35791072
GAexonicDe novononsynonymous SNVNM_001199216
NM_002361
NM_080600
c.G660A
c.G735A
c.G735A
p.M220I
p.M245I
p.M245I
0.044-Takata2018 E
ELL     JASD_Fam0198chr19:
18557559-18557559
GCexonicDe novononsynonymous SNVNM_006532c.C1531Gp.L511V3.451-Takata2018 E
ATP1A3     JASD_Fam0085chr19:
42474692-42474692
GAexonicDe novononsynonymous SNVNM_001256213
NM_001256214
NM_152296
c.C2299T
c.C2305T
c.C2266T
p.R767C
p.R769C
p.R756C
20.5-Takata2018 E
EGLN2     JASD_Fam0185chr19:
41306763-41306763
GAexonicDe novononsynonymous SNVNM_053046
NM_080732
c.G286A
c.G286A
p.A96T
p.A96T
18.86-Takata2018 E
GIPR     JASD_Fam0155chr19:
46180216-46180216
GAexonicDe novononsynonymous SNVNM_001308418
NM_000164
c.G535A
c.G643A
p.A179T
p.A215T
14.0-Takata2018 E
CLPTM1     JASD_Fam0259chr19:
45490617-45490617
CGexonicDe novononsynonymous SNVNM_001282175
NM_001282176
NM_001294
c.C932G
c.C668G
c.C974G
p.S311W
p.S223W
p.S325W
19.08-Takata2018 E
LMTK3     JASD_Fam0031chr19:
48997134-48997134
GAexonicDe novosynonymous SNVNM_001080434c.C3996Tp.P1332P--Takata2018 E
LMTK3     JASD_Fam0031chr19:
48997119-48997119
TAexonicDe novosynonymous SNVNM_001080434c.A4011Tp.A1337A--Takata2018 E
ZNF841     JASD_Fam0113chr19:
52569251-52569251
GAexonicDe novosynonymous SNVNM_001136499c.C1884Tp.N628N--Takata2018 E
SLC17A7     JASD_Fam0125chr19:
49937906-49937906
CTexonicDe novostopgainNM_020309c.G590Ap.W197X37.0-Takata2018 E
LILRA2     JASD_Fam0122chr19:
55098764-55098764
TCexonicDe novononsynonymous SNVNM_001290270
NM_001130917
NM_006866
c.T1316C
c.T1403C
c.T1352C
p.F439S
p.F468S
p.F451S
12.71-Takata2018 E
TMC4     JASD_Fam0154chr19:
54666461-54666461
GTexonicDe novononsynonymous SNVNM_001145303
NM_144686
c.C1465A
c.C1447A
p.L489I
p.L483I
0.132-Takata2018 E
NCOA6     JASD_Fam0147chr20:
33345644-33345644
GAexonicDe novostopgainNM_001242539
NM_014071
c.C907T
c.C907T
p.R303X
p.R303X
54.0-Takata2018 E
USP29     JASD_Fam0079chr19:
57641305-57641305
TCexonicDe novononsynonymous SNVNM_020903c.T1262Cp.V421A3.386-Takata2018 E
TFAP2C     JASD_Fam0174chr20:
55209316-55209316
TGexonicDe novostopgainNM_003222c.T914Gp.L305X42.0-Takata2018 E
SEMG1     JASD_Fam0060chr20:
43837010-43837010
CTexonicDe novononsynonymous SNVNM_003007c.C1072Tp.L358F6.452-Takata2018 E
CHRNA4     JASD_Fam0196chr20:
61981908-61981908
GAexonicDe novosynonymous SNVNM_000744
NM_001256573
c.C855T
c.C327T
p.L285L
p.L109L
--Takata2018 E
GID8     JASD_Fam0218chr20:
61572950-61572950
CTexonicDe novosynonymous SNVNM_017896c.C96Tp.L32L--Takata2018 E
SLC2A4RG     JASD_Fam0096chr20:
62373543-62373543
GAexonicDe novononsynonymous SNVNM_020062c.G640Ap.A214T10.59-Takata2018 E
ZGPAT       JASD_Fam0040chr20:
62366534-62366534
CTexonicDe novononsynonymous SNVNM_001083113
NM_001195653
NM_001195654
NM_032527
NM_181485
c.C1015T
c.C1015T
c.C988T
c.C1075T
c.C1015T
p.R339W
p.R339W
p.R330W
p.R359W
p.R339W
17.76-Takata2018 E
SON     JASD_Fam0087chr21:
34945653-34945653
GAexonicDe novononsynonymous SNVNM_001291412
NM_138927
c.G1009A
c.G6925A
p.G337R
p.G2309R
25.3-Takata2018 E
KRTAP25-1     JASD_Fam0046chr21:
31661638-31661640
ACCAexonicDe novoframeshift deletionNM_001128598c.169_170delp.G57fs--Takata2018 E
GAB4     JASD_Fam0175chr22:
17469020-17469020
GAexonicDe novosynonymous SNVNM_001037814c.C516Tp.L172L--Takata2018 E
PIGP     JASD_Fam0142chr21:
38441914-38441914
GAexonicDe novosynonymous SNVNM_153681
NM_153682
c.C165T
c.C93T
p.L55L
p.L31L
--Takata2018 E
LZTR1     JASD_Fam0172chr22:
21345975-21345975
CTexonicDe novononsynonymous SNVNM_006767c.C850Tp.R284C23.9-Takata2018 E
ZDHHC8     JASD_Fam0234chr22:
20130777-20130777
GAexonicDe novononsynonymous SNVNM_001185024
NM_013373
c.G1624A
c.G1624A
p.D542N
p.D542N
29.5-Takata2018 E
TOB2     JASD_Fam0205chr22:
41832929-41832929
CTexonicDe novononsynonymous SNVNM_016272c.G421Ap.V141M8.1188.245E-6Takata2018 E
GAS2L1     JASD_Fam0054chr22:
29706675-29706675
GAexonicDe novosynonymous SNVNM_001278730c.G789Ap.T263T--Takata2018 E
ACE2     JASD_Fam0134chrX:
15607569-15607569
GAexonicDe novosynonymous SNVNM_021804c.C594Tp.D198D--Takata2018 E
KLHDC7B     JASD_Fam0165chr22:
50987405-50987405
CTexonicDe novosynonymous SNVNM_138433c.C810Tp.R270R--Takata2018 E
DDX3X     JASD_Fam0079chrX:
41203604-41203604
GAexonicDe novononsynonymous SNVNM_001193417
NM_001193416
NM_001356
c.G929A
c.G977A
c.G977A
p.R310H
p.R326H
p.R326H
35.0-Takata2018 E
PDHA1     JASD_Fam0050chrX:
19373601-19373601
CTexonicDe novosynonymous SNVNM_001173456
NM_000284
NM_001173455
NM_001173454
c.C645T
c.C738T
c.C759T
c.C852T
p.G215G
p.G246G
p.G253G
p.G284G
--Takata2018 E
COX7B     JASD_Fam0093chrX:
77158235-77158235
GAexonicDe novononsynonymous SNVNM_001866c.G136Ap.A46T9.751-Takata2018 E
IQSEC2     JASD_Fam0156chrX:
53268427-53268427
CTexonicDe novononsynonymous SNVNM_001111125
NM_015075
c.G3065A
c.G2450A
p.R1022H
p.R817H
30.01.157E-5Takata2018 E
HNRNPH2     JASD_Fam0188chrX:
100667398-100667398
TAexonicDe novononsynonymous SNVNM_001032393
NM_019597
c.T422A
c.T422A
p.M141K
p.M141K
12.74-Takata2018 E
COX7B     JASD_Fam0093chrX:
77158244-77158244
TCexonicDe novononsynonymous SNVNM_001866c.T145Cp.C49R17.36-Takata2018 E
FLNA     JASD_Fam0213chrX:
153580387-153580387
CTexonicDe novononsynonymous SNVNM_001456
NM_001110556
c.G6748A
c.G6772A
p.E2250K
p.E2258K
16.3-Takata2018 E
SSR4     JASD_Fam0065chrX:
153062005-153062005
CTexonicDe novostopgainNM_006280
NM_001204526
NM_001204527
c.C184T
c.C217T
c.C208T
p.Q62X
p.Q73X
p.Q70X
35.0-Takata2018 E
PLEKHN1     JASD_Fam0077chr1:
905674-905674
GAexonicDe novosynonymous SNVNM_001160184
NM_032129
c.G201A
c.G201A
p.E67E
p.E67E
--Takata2018 E
AGRN     JASD_Fam0025chr1:
980641-980649
CCTGGCTGGCexonicDe novoframeshift deletionNM_198576c.2356_2363delp.L786fs--Takata2018 E
AGRN     JASD_Fam0016chr1:
955717-955717
CTexonicDe novosynonymous SNVNM_198576c.C165Tp.L55L--Takata2018 E
NPHP4     JASD_Fam0236chr1:
5935138-5935138
TCexonicDe novononsynonymous SNVNM_001291594
NM_001291593
NM_015102
c.A1304G
c.A1301G
c.A2840G
p.Q435R
p.Q434R
p.Q947R
10.73-Takata2018 E
ATAD3B     JASD_Fam0103chr1:
1425957-1425957
CTexonicDe novononsynonymous SNVNM_001317238
NM_031921
c.C1382T
c.C1520T
p.A461V
p.A507V
7.449-Takata2018 E
ENO1     JASD_Fam0184chr1:
8931983-8931983
GAexonicDe novononsynonymous SNVNM_001428c.C148Tp.R50W26.48.237E-6Takata2018 E
CHD5     JASD_Fam0207chr1:
6202253-6202253
GTexonicDe novosynonymous SNVNM_015557c.C2371Ap.R791R--Takata2018 E
SPEN     JASD_Fam0233chr1:
16262656-16262656
GCexonicDe novosynonymous SNVNM_015001c.G9921Cp.R3307R--Takata2018 E
MTOR     JASD_Fam0033chr1:
11316137-11316137
CTexonicDe novononsynonymous SNVNM_004958c.G617Ap.R206H20.2-Takata2018 E
CROCC     JASD_Fam0207chr1:
17272061-17272061
TCexonicDe novononsynonymous SNVNM_014675c.T2096Cp.L699P9.942-Takata2018 E
CLCNKA     JASD_Fam0017chr1:
16352629-16352629
AGexonicDe novononsynonymous SNVNM_001257139
NM_001042704
NM_004070
c.A256G
c.A385G
c.A385G
p.M86V
p.M129V
p.M129V
9.84-Takata2018 E
AGO1     JASD_Fam0055chr1:
36359358-36359358
GTexonicDe novononsynonymous SNVNM_001317123
NM_012199
c.G371T
c.G596T
p.G124V
p.G199V
23.1-Takata2018 E
AGO4     JASD_Fam0025chr1:
36307019-36307019
CTexonicDe novononsynonymous SNVNM_017629c.C1978Tp.R660C29.62.472E-5Takata2018 E
CPT2     JASD_Fam0222chr1:
53676213-53676213
AGexonicDe novosynonymous SNVNM_000098c.A867Gp.A289A--Takata2018 E
MACF1     JASD_Fam0138chr1:
39917969-39917970
GTGexonicDe novoframeshift deletionNM_012090c.14384delTp.V4795fs--Takata2018 E
DEPDC1     JASD_Fam0169chr1:
68949730-68949730
AGexonicDe novosynonymous SNVNM_001114120
NM_017779
c.T813C
c.T813C
p.F271F
p.F271F
--Takata2018 E
GLIS1     JASD_Fam0025chr1:
53974866-53974866
GAexonicDe novosynonymous SNVNM_147193c.C1632Tp.V544V-1.812E-5Takata2018 E
PRPF38B     JASD_Fam0153chr1:
109242140-109242144
AAGAGAexonicDe novoframeshift deletionNM_018061c.1140_1143delp.K380fs-3.122E-5Takata2018 E
LHX8     JASD_Fam0059chr1:
75602329-75602329
CTexonicDe novosynonymous SNVNM_001256114
NM_001001933
c.C30T
c.C60T
p.A10A
p.A20A
-4.997E-5Takata2018 E
SPRR2A     JASD_Fam0072chr1:
153029019-153029019
AGexonicDe novononsynonymous SNVNM_005988c.T193Cp.S65P7.4421.0E-4Takata2018 E
POGZ     JASD_Fam0054chr1:
151378393-151378393
CTexonicDe novononsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G2833A
c.G2959A
c.G2932A
c.G3091A
c.G3118A
p.E945K
p.E987K
p.E978K
p.E1031K
p.E1040K
21.3-Takata2018 E
RCSD1     JASD_Fam0005chr1:
167654679-167654679
CAexonicDe novosynonymous SNVNM_052862c.C130Ap.R44R--Takata2018 E
PBX1     JASD_Fam0161chr1:
164769051-164769051
GCexonicDe novononsynonymous SNVNM_001204961
NM_001204963
NM_002585
c.G626C
c.G626C
c.G626C
p.S209T
p.S209T
p.S209T
34.0-Takata2018 E
TRMT1L     JASD_Fam0205chr1:
185109103-185109104
ACAsplicingDe novosplicing--Takata2018 E
SELP     JASD_Fam0020chr1:
169576253-169576253
CGexonicDe novononsynonymous SNVNM_003005c.G1453Cp.V485L9.269-Takata2018 E
WDR26     JASD_Fam0093chr1:
224599157-224599157
GCexonicDe novononsynonymous SNVNM_001115113
NM_025160
c.C1082G
c.C1130G
p.T361R
p.T377R
26.7-Takata2018 E
RAB3GAP2     JASD_Fam0018chr1:
220363844-220363844
ACexonicDe novostopgainNM_012414c.T1506Gp.Y502X38.0-Takata2018 E
C2orf48   JASD_Fam0209chr2:
10350638-10350638
ACexonicDe novononsynonymous SNVNM_182626c.A395Cp.K132T7.398-Takata2018 E
AHCTF1     JASD_Fam0115chr1:
247014152-247014152
TCexonicDe novononsynonymous SNVNM_015446c.A5183Gp.Q1728R4.127-Takata2018 E
USP34     JASD_Fam0025chr2:
61415298-61415298
AGexonicDe novononsynonymous SNVNM_014709c.T10580Cp.I3527T13.48-Takata2018 E
NRXN1     JASD_Fam0198chr2:
51255348-51255348
CGexonicDe novononsynonymous SNVNM_001135659
NM_004801
c.G64C
c.G64C
p.G22R
p.G22R
17.59-Takata2018 E
MCM6     JASD_Fam0186chr2:
136626351-136626351
GAexonicDe novononsynonymous SNVNM_005915c.C445Tp.P149S33.0-Takata2018 E
SNRNP200     JASD_Fam0241chr2:
96944354-96944354
CTexonicDe novononsynonymous SNVNM_014014c.G5419Ap.E1807K29.1-Takata2018 E
KCNH7     JASD_Fam0232chr2:
163241305-163241305
ACexonicDe novononsynonymous SNVNM_033272c.T2855Gp.I952R4.259-Takata2018 E
THSD7B     JASD_Fam0244chr2:
138375981-138375981
GAexonicDe novosynonymous SNVNM_001316349c.G3585Ap.L1195L--Takata2018 E
TTN     JASD_Fam0079chr2:
179428473-179428473
CTexonicDe novosynonymous SNVNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550
c.G55191A
c.G55566A
c.G55767A
c.G74682A
c.G77463A
c.G82386A
p.T18397T
p.T18522T
p.T18589T
p.T24894T
p.T25821T
p.T27462T
-1.658E-5Takata2018 E
PLEKHA3     JASD_Fam0092chr2:
179358628-179358628
GAexonicDe novononsynonymous SNVNM_019091c.G362Ap.R121H26.71.649E-5Takata2018 E
DNAH7     JASD_Fam0040chr2:
196891487-196891487
TCexonicDe novononsynonymous SNVNM_018897c.A664Gp.I222V17.518.473E-6Takata2018 E
WDR75     JASD_Fam0003chr2:
190313139-190313139
GAexonicDe novononsynonymous SNVNM_032168c.G121Ap.V41I14.64-Takata2018 E
FN1     JASD_Fam0010chr2:
216239958-216239958
CTexonicDe novononsynonymous SNVNM_001306131
NM_001306132
NM_212474
NM_212476
NM_001306130
NM_002026
NM_212478
NM_001306129
NM_212482
c.G5593A
c.G5593A
c.G5593A
c.G5593A
c.G5866A
c.G5863A
c.G5863A
c.G6136A
c.G6136A
p.V1865I
p.V1865I
p.V1865I
p.V1865I
p.V1956I
p.V1955I
p.V1955I
p.V2046I
p.V2046I
16.35-Takata2018 E
NBEAL1     JASD_Fam0201chr2:
203949293-203949293
GTsplicingDe novosplicing24.6-Takata2018 E
TRIP12     JASD_Fam0170chr2:
230667043-230667043
GAexonicDe novononsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C2096T
c.C3005T
c.C2906T
c.C3050T
p.T699I
p.T1002I
p.T969I
p.T1017I
4.813-Takata2018 E
TRIP12     JASD_Fam0064chr2:
230663998-230663998
CGsplicingDe novosplicing24.5-Takata2018 E
SH3BP4     JASD_Fam0208chr2:
235951884-235951884
TTTGexonicDe novoframeshift insertionNM_014521c.2471_2472insTGp.L824fs--Takata2018 E
TRIP12     JASD_Fam0109chr2:
230668934-230668935
GAGexonicDe novoframeshift deletionNM_001284216
NM_001284215
NM_004238
NM_001284214
c.1624delT
c.2533delT
c.2434delT
c.2578delT
p.S542fs
p.S845fs
p.S812fs
p.S860fs
--Takata2018 E
GAL3ST2     JASD_Fam0010chr2:
242743557-242743557
GAexonicDe novosynonymous SNVNM_022134c.G1173Ap.K391K--Takata2018 E
GPR35     JASD_Fam0063chr2:
241569791-241569791
GTexonicDe novononsynonymous SNVNM_005301
NM_001195381
NM_001195382
c.G422T
c.G515T
c.G515T
p.W141L
p.W172L
p.W172L
17.54-Takata2018 E
ATP2B2     JASD_Fam0161chr3:
10381972-10381972
CTexonicDe novostopgainNM_001683
NM_001001331
c.G3056A
c.G3191A
p.W1019X
p.W1064X
45.0-Takata2018 E
TTLL3     JASD_Fam0008chr3:
9870992-9870992
CTexonicDe novosynonymous SNVNM_001025930
NM_001198793
c.C1896T
c.C1650T
p.G632G
p.G550G
4.465-Takata2018 E
DCLK3     JASD_Fam0227chr3:
36759633-36759633
CTexonicDe novononsynonymous SNVNM_033403c.G1621Ap.V541M17.128.281E-6Takata2018 E
ATP2B2     JASD_Fam0257chr3:
10392130-10392130
GTexonicDe novostopgainNM_001683
NM_001001331
c.C2133A
c.C2268A
p.C711X
p.C756X
43.0-Takata2018 E
COL7A1     JASD_Fam0194chr3:
48611123-48611123
CTexonicDe novosynonymous SNVNM_000094c.G6573Ap.P2191P-1.775E-5Takata2018 E
XIRP1     JASD_Fam0233chr3:
39226658-39226658
TTGexonicDe novoframeshift insertionNM_194293c.4278dupCp.K1427fs-8.645E-6Takata2018 E
CHDH