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Exact

Results for "Li2017"

Variant Events: 508

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
KCNAB3     Li2017:20736chr17:
7830997-7830997
ACexonicUnknownnonsynonymous SNVNM_004732c.T302Gp.F101C20.78.237E-6Li2017 T
KIF5C     Li2017:20736chr2:
149866772-149866772
CTexonicUnknownnonsynonymous SNVNM_004522c.C2674Tp.R892W20.9-Li2017 T
DNAH3     Li2017:20711chr16:
20966188-20966188
CTexonicUnknownnonsynonymous SNVNM_017539c.G11018Ap.G3673D26.58.239E-6Li2017 T
PLXNA3     Li2017:20727chrX:
153694155-153694155
ATexonicUnknownstopgainNM_017514c.A2497Tp.K833X40.0-Li2017 T
CEP152     Li2017:20758chr15:
49034285-49034285
CTexonicUnknownnonsynonymous SNVNM_014985
NM_001194998
c.G3680A
c.G3848A
p.R1227H
p.R1283H
26.98.281E-6Li2017 T
CEP63     Li2017:20761chr3:
134266175-134266175
AGsplicingUnknownsplicing12.49-Li2017 T
CSMD3     Li2017:20746chr8:
113308208-113308208
AGexonicUnknownnonsynonymous SNVNM_052900
NM_198123
NM_198124
c.T7961C
c.T8468C
c.T8348C
p.I2654T
p.I2823T
p.I2783T
21.61.0E-4Li2017 T
CD276     Li2017:20758chr15:
73995249-73995251
CCTCexonicUnknownframeshift deletionNM_001024736c.556_557delp.L186fs-1.66E-5Li2017 T
VPS13B     Li2017:20766chr8:
100880652-100880652
CTexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.C11426T
c.C11351T
p.P3809L
p.P3784L
33.0-Li2017 T
KRT26     Li2017:20967chr17:
38928089-38928089
GAexonicUnknownnonsynonymous SNVNM_181539c.C277Tp.R93C29.14.12E-5Li2017 T
LRBA     Li2017:20761chr4:
151604815-151604815
GAexonicUnknownnonsynonymous SNVNM_001199282
NM_006726
c.C5809T
c.C5809T
p.H1937Y
p.H1937Y
32.0-Li2017 T
RBBP8     Li2017:20766chr18:
20602152-20602152
CTexonicUnknownstopgainNM_002894
NM_203291
c.C2515T
c.C2515T
p.R839X
p.R839X
36.0-Li2017 T
COL28A1     Li2017:21825chr7:
7529089-7529089
CTsplicingUnknownsplicing17.198.427E-6Li2017 T
POLA1     Li2017:21831chrX:
24859771-24859771
CTexonicUnknownnonsynonymous SNVNM_016937c.C3721Tp.L1241F17.55-Li2017 T
TJP2     Li2017:20997chr9:
71831282-71831282
GCexonicUnknownnonsynonymous SNVNM_001170415
NM_001170416
NM_001170630
NM_004817
NM_201629
NM_001170414
c.G154C
c.G235C
c.G142C
c.G142C
c.G142C
c.G73C
p.V52L
p.V79L
p.V48L
p.V48L
p.V48L
p.V25L
35.0-Li2017 T
TCF4     Li2017:21404chr18:
52921925-52921925
GAexonicDe novostopgainNM_001243234
NM_001243235
NM_001243236
NM_001243232
NM_001243233
NM_001306208
NM_001243231
NM_001243227
NM_001243230
NM_001306207
NM_001083962
NM_001243228
NM_003199
NM_001243226
c.C673T
c.C673T
c.C673T
c.C940T
c.C763T
c.C940T
c.C1027T
c.C1081T
c.C1144T
c.C1081T
c.C1153T
c.C1171T
c.C1153T
c.C1459T
p.R225X
p.R225X
p.R225X
p.R314X
p.R255X
p.R314X
p.R343X
p.R361X
p.R382X
p.R361X
p.R385X
p.R391X
p.R385X
p.R487X
37.0-Li2017 T
RB1CC1     Li2017:21837chr8:
53573716-53573716
ACexonicUnknownnonsynonymous SNVNM_001083617
NM_014781
c.T1484G
c.T1484G
p.M495R
p.M495R
16.998.243E-6Li2017 T
ASXL3     Li2017:22913chr18:
31224889-31224889
AGexonicUnknownnonsynonymous SNVNM_030632c.A169Gp.M57V21.1-Li2017 T
CEP152     Li2017:21837chr15:
49048380-49048380
TCexonicDe novononsynonymous SNVNM_001194998
NM_014985
c.A3065G
c.A3065G
p.Q1022R
p.Q1022R
22.2-Li2017 T
FBN2     Li2017:21837chr5:
127673784-127673784
AGexonicUnknownnonsynonymous SNVNM_001999c.T3503Cp.L1168P24.68.264E-6Li2017 T
SCN8A     Li2017:23056chr12:
52100452-52100452
CTexonicUnknownnonsynonymous SNVNM_001177984
NM_014191
c.C1588T
c.C1588T
p.R530W
p.R530W
14.093.613E-5Li2017 T
CD276     Li2017:23062chr15:
73996752-73996752
CGexonicUnknownstopgainNM_025240
NM_001024736
c.C654G
c.C1308G
p.Y218X
p.Y436X
27.0-Li2017 T
LRBA     Li2017:22913chr4:
151412155-151412155
TGexonicUnknownnonsynonymous SNVNM_001199282
NM_006726
c.A6363C
c.A6396C
p.K2121N
p.K2132N
22.2-Li2017 T
NIPAL3     Li2017:23041chr1:
24782657-24782657
GAexonicUnknownnonsynonymous SNVNM_020448c.G667Ap.V223M20.19.885E-5Li2017 T
ASPM     Li2017:23065chr1:
197111914-197111914
GAexonicUnknownnonsynonymous SNVNM_001206846
NM_018136
c.C1468T
c.C1468T
p.R490C
p.R490C
17.518.25E-6Li2017 T
NEB     Li2017:23065chr2:
152388389-152388389
CTexonicUnknownnonsynonymous SNVNM_004543
NM_001164507
NM_001164508
NM_001271208
c.G16300A
c.G21439A
c.G21439A
c.G21544A
p.E5434K
p.E7147K
p.E7147K
p.E7182K
36.0-Li2017 T
CNTNAP2     Li2017:23062chr7:
147815222-147815222
AGexonicUnknownnonsynonymous SNVNM_014141c.A2396Gp.N799S19.45-Li2017 T
PLK4     Li2017:23062chr4:
128807561-128807563
CAGCexonicUnknownframeshift deletionNM_001190799
NM_001190801
NM_014264
c.941_942del
c.914_915del
c.1037_1038del
p.Q314fs
p.Q305fs
p.Q346fs
--Li2017 T
TRIM17     Li2017:23067chr1:
228602580-228602580
CTexonicUnknownnonsynonymous SNVNM_001024940
NM_001134855
NM_016102
c.G194A
c.G194A
c.G194A
p.C65Y
p.C65Y
p.C65Y
17.58-Li2017 T
CNTNAP2     Li2017:23082chr7:
146805341-146805341
CTexonicUnknownnonsynonymous SNVNM_014141c.C653Tp.T218M17.293.302E-5Li2017 T
MYH9     Li2017:23067chr22:
36684831-36684831
CTexonicUnknownnonsynonymous SNVNM_002473c.G4712Ap.R1571Q36.0-Li2017 T
PLEKHG5     Li2017:23067chr1:
6537675-6537675
GAexonicUnknownnonsynonymous SNVNM_001265593
NM_001042663
NM_001265592
NM_198681
c.C164T
c.C125T
c.C194T
c.C188T
p.P55L
p.P42L
p.P65L
p.P63L
26.4-Li2017 T
RAB3GAP1     Li2017:23085chr2:
135926193-135926198
GACTTCGexonicUnknownframeshift deletionNM_012233
NM_001172435
c.2789_2793del
c.2810_2814del
p.D930fs
p.D937fs
--Li2017 T
COL28A1     Li2017:23092chr7:
7421215-7421215
CTexonicUnknownnonsynonymous SNVNM_001037763c.G2165Ap.G722D20.23.313E-5Li2017 T
NIPAL3     Li2017:23082chr1:
24768672-24768672
CTexonicUnknownnonsynonymous SNVNM_020448c.C290Tp.A97V21.53.296E-5Li2017 T
PRDM15     Li2017:23082chr21:
43254644-43254644
GGCexonicUnknownframeshift insertionNM_001282934c.1506dupGp.P503fs--Li2017 T
VPS13B     Li2017:23092chr8:
100733201-100733201
CTexonicUnknownstopgainNM_017890
NM_152564
c.C7051T
c.C6976T
p.R2351X
p.R2326X
50.08.241E-6Li2017 T
CACNA1D     Li2017:23096chr3:
53779862-53779862
CTexonicUnknownnonsynonymous SNVNM_001128839
NM_001128840
NM_000720
c.C3127T
c.C3127T
c.C3187T
p.R1043C
p.R1043C
p.R1063C
20.41.649E-5Li2017 T
FBN2     Li2017:23092chr5:
127714532-127714532
GAexonicUnknownnonsynonymous SNVNM_001999c.C1655Tp.T552I21.3-Li2017 T
FGD3     Li2017:23092chr9:
95768370-95768370
GAexonicUnknownnonsynonymous SNVNM_001083536
NM_001286993
NM_033086
c.G745A
c.G745A
c.G745A
p.E249K
p.E249K
p.E249K
35.0-Li2017 T
PER1     Li2017:23124chr17:
8048072-8048072
GAexonicUnknownstopgainNM_002616c.C2458Tp.R820X41.0-Li2017 T
TJP2     Li2017:23127chr9:
71861618-71861618
TCexonicUnknownnonsynonymous SNVNM_001170415
NM_001170416
NM_001170630
NM_004817
NM_201629
NM_001170414
c.T2591C
c.T2672C
c.T2579C
c.T2579C
c.T2579C
c.T2510C
p.L864P
p.L891P
p.L860P
p.L860P
p.L860P
p.L837P
25.0-Li2017 T
CHD9     Li2017:23104chr16:
53262999-53262999
ATexonicUnknownnonsynonymous SNVNM_001308319
NM_025134
c.A2273T
c.A2273T
p.H758L
p.H758L
15.43-Li2017 T
SCN1A     Li2017:23104chr2:
166897908-166897908
AGexonicUnknownnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.T2248C
c.T2164C
c.T2215C
c.T2248C
p.C750R
p.C722R
p.C739R
p.C750R
19.37-Li2017 T
RNF38     Li2017:23139chr9:
36356440-36356440
GTexonicUnknownnonsynonymous SNVNM_194329
NM_194332
NM_022781
NM_194328
NM_194330
c.C619A
c.C520A
c.C769A
c.C520A
c.C520A
p.P207T
p.P174T
p.P257T
p.P174T
p.P174T
26.78.402E-6Li2017 T
LOXL3     Li2017:23142chr2:
74762845-74762845
CTexonicUnknownnonsynonymous SNVNM_001289165
NM_001289164
NM_032603
c.G203A
c.G851A
c.G1286A
p.R68Q
p.R284Q
p.R429Q
32.08.643E-6Li2017 T
CCDC66     Li2017:23136chr3:
56649169-56649174
TCAAGATexonicUnknownframeshift deletionNM_001012506
NM_001141947
c.1479_1483del
c.1581_1585del
p.L493fs
p.L527fs
-1.0E-4Li2017 T
CHL1     Li2017:23136chr3:
424343-424343
CTexonicUnknownnonsynonymous SNVNM_001253388
NM_001253387
NM_006614
c.C2165T
c.C2117T
c.C2165T
p.T722I
p.T706I
p.T722I
17.79-Li2017 T
FBN2     Li2017:23157chr5:
127674748-127674748
CTexonicUnknownnonsynonymous SNVNM_001999c.G3349Ap.D1117N21.83.313E-5Li2017 T
SCN8A     Li2017:23157chr12:
52139818-52139818
ACexonicUnknownnonsynonymous SNVNM_001177984
NM_014191
c.A2130C
c.A2130C
p.E710D
p.E710D
22.12.504E-5Li2017 T
ANKRD31     Li2017:23157chr5:
74400949-74400949
GGTexonicUnknownframeshift insertionNM_001164443c.4263dupAp.Q1422fs-3.0E-4Li2017 T
ASPM     Li2017:23157chr1:
197073381-197073381
CTexonicUnknownnonsynonymous SNVNM_018136c.G5000Ap.R1667H24.92.498E-5Li2017 T
CACNA1D     Li2017:23185chr3:
53796100-53796100
GAexonicUnknownnonsynonymous SNVNM_001128839
NM_001128840
NM_000720
c.G3862A
c.G3862A
c.G3922A
p.E1288K
p.E1288K
p.E1308K
19.82.472E-5Li2017 T
RAD21L1     Li2017:23188chr20:
1210526-1210526
GGAexonicUnknownframeshift insertionNM_001136566c.148dupAp.V49fs--Li2017 T
MYH9     Li2017:23169chr22:
36718542-36718542
GCexonicUnknownnonsynonymous SNVNM_002473c.C637Gp.Q213E34.0-Li2017 T
SCN8A     Li2017:23182chr12:
52115614-52115614
CAexonicUnknownnonsynonymous SNVNM_001177984
NM_014191
c.C1920A
c.C1920A
p.N640K
p.N640K
18.64-Li2017 T
HGFAC     Li2017:23240chr4:
3446376-3446376
GCexonicUnknownnonsynonymous SNVNM_001297439
NM_001528
c.G757C
c.G757C
p.G253R
p.G253R
21.22.655E-5Li2017 T
RPS6KB2     Li2017:23240chr11:
67202146-67202154
AGCCCCCGGAexonicUnknownframeshift deletionNM_003952c.1250_1257delp.S417fs-6.146E-5Li2017 T
DNM1L     Li2017:23202chr12:
32866197-32866197
CAexonicUnknownnonsynonymous SNVNM_001278463
NM_005690
NM_012062
NM_012063
NM_001278464
NM_001278465
c.C511A
c.C511A
c.C511A
c.C511A
c.C550A
c.C550A
p.L171I
p.L171I
p.L171I
p.L171I
p.L184I
p.L184I
16.988.239E-6Li2017 T
CHRM3     Li2017:23215chr1:
240072513-240072513
CTexonicUnknownstopgainNM_000740c.C1762Tp.Q588X42.09.015E-6Li2017 T
CHL1     Li2017:23258chr3:
419514-419514
GTexonicUnknownstopgainNM_001253388
NM_001253387
NM_006614
c.G1765T
c.G1717T
c.G1765T
p.G589X
p.G573X
p.G589X
44.0-Li2017 T
ARHGEF10     Li2017:23266chr8:
1814753-1814753
AGexonicUnknownnonsynonymous SNVNM_001308152
NM_014629
NM_001308153
c.A610G
c.A607G
c.A682G
p.T204A
p.T203A
p.T228A
25.68.258E-6Li2017 T
SCN2A     Li2017:23243chr2:
166243497-166243499
ATTAexonicUnknownframeshift deletionNM_001040143
NM_001040142
NM_021007
c.4794_4795del
c.4794_4795del
c.4794_4795del
p.D1598fs
p.D1598fs
p.D1598fs
--Li2017 T
ARHGAP21     Li2017:23258chr10:
24885704-24885704
GAexonicUnknownstopgainNM_020824c.C3442Tp.R1148X40.0-Li2017 T
NEB     Li2017:23278chr2:
152492740-152492740
CTsplicingUnknownsplicing16.04-Li2017 T
CEP63     Li2017:23352chr3:
134256004-134256004
GAexonicUnknownnonsynonymous SNVNM_001042383
NM_001042384
NM_001042400
NM_025180
c.G449A
c.G449A
c.G449A
c.G449A
p.R150H
p.R150H
p.R150H
p.R150H
28.92.0E-4Li2017 T
LAMA2     Li2017:23269chr6:
129475829-129475829
GAsplicingUnknownsplicing24.0-Li2017 T
AP4M1     Li2017:23278chr7:
99700527-99700527
GAexonicUnknownnonsynonymous SNVNM_004722c.G295Ap.E99K35.02.0E-4Li2017 T
MKI67     Li2017:23639chr10:
129913650-129913651
TCTexonicUnknownframeshift deletionNM_002417c.1021delGp.E341fs--Li2017 T
STAMBP     Li2017:23654chr2:
74076510-74076510
CTexonicUnknownnonsynonymous SNVNM_201647
NM_213622
NM_006463
c.C763T
c.C763T
c.C763T
p.R255C
p.R255C
p.R255C
24.51.648E-5Li2017 T
LRRK2     Li2017:23636chr12:
40702346-40702346
GAexonicUnknownnonsynonymous SNVNM_198578c.G4037Ap.G1346D28.1-Li2017 T
MYH9     Li2017:23636chr22:
36691713-36691713
TGexonicUnknownnonsynonymous SNVNM_002473c.A3323Cp.E1108A25.7-Li2017 T
MUC4     Li2017:23673chr3:
195488430-195488430
CTexonicUnknownnonsynonymous SNVNM_138297
NM_004532
NM_018406
c.G1678A
c.G1831A
c.G14539A
p.D560N
p.D611N
p.D4847N
17.43-Li2017 T
COL2A1     Li2017:23681chr12:
48387806-48387806
GTexonicUnknownnonsynonymous SNVNM_033150
NM_001844
c.C634A
c.C841A
p.P212T
p.P281T
19.098.283E-6Li2017 T
FLNA     Li2017:23663chrX:
153594754-153594754
CTexonicUnknownnonsynonymous SNVNM_001110556
NM_001456
c.G1150A
c.G1150A
p.V384M
p.V384M
12.12-Li2017 T
RAB3GAP2     Li2017:23668chr1:
220387280-220387280
CAexonicUnknownnonsynonymous SNVNM_012414c.G222Tp.W74C22.8-Li2017 T
GNAS     Li2017:23700chr20:
57428664-57428664
GAexonicUnknownstopgainNM_080425c.G344Ap.W115X26.8-Li2017 T
CDK5RAP2     Li2017:23707chr9:
123182114-123182114
CAexonicUnknownnonsynonymous SNVNM_001272039
NM_001011649
NM_018249
c.G3439T
c.G4129T
c.G4129T
p.D1147Y
p.D1377Y
p.D1377Y
17.69-Li2017 T
TH     Li2017:23681chr11:
2185588-2185588
CTexonicUnknownnonsynonymous SNVNM_000360
NM_199292
NM_199293
c.G1369A
c.G1462A
c.G1450A
p.V457M
p.V488M
p.V484M
17.593.626E-5Li2017 T
CDC42BPG     Li2017:23694chr11:
64606247-64606247
GTexonicUnknownnonsynonymous SNVNM_017525c.C1004Ap.P335H19.228.355E-6Li2017 T
GIPC1     Li2017:23717chr19:
14593619-14593619
CTexonicUnknownnonsynonymous SNVNM_202470
NM_202468
NM_005716
c.G170A
c.G170A
c.G170A
p.R57H
p.R57H
p.R57H
28.11.391E-5Li2017 T
MFRP     Li2017:23717chr11:
119212596-119212596
CTexonicUnknownnonsynonymous SNVNM_031433c.G1486Ap.E496K32.02.491E-5Li2017 T
NEFH     Li2017:23707chr22:
29879546-29879546
GAexonicUnknownnonsynonymous SNVNM_021076c.G1066Ap.D356N23.01.669E-5Li2017 T
MYH9     Li2017:23710chr22:
36697021-36697021
CTexonicDe novononsynonymous SNVNM_002473c.G2714Ap.R905H35.03.311E-5Li2017 T
ANK2     Li2017:23720chr4:
114275103-114275103
GCexonicDe novononsynonymous SNVNM_001148c.G5329Cp.V1777L24.8-Li2017 T
TJP2     Li2017:23720chr9:
71849443-71849443
TCexonicDe novononsynonymous SNVNM_001170415
NM_001170416
NM_001170630
NM_004817
NM_201629
NM_001170414
c.T1772C
c.T1853C
c.T1760C
c.T1760C
c.T1760C
c.T1691C
p.L591S
p.L618S
p.L587S
p.L587S
p.L587S
p.L564S
26.3-Li2017 T
POMT1     Li2017:23717chr9:
134398429-134398429
CTexonicUnknownnonsynonymous SNVNM_001136114
NM_001077366
NM_001077365
NM_001136113
NM_007171
c.C1763T
c.C1952T
c.C2114T
c.C2114T
c.C2180T
p.S588L
p.S651L
p.S705L
p.S705L
p.S727L
15.252.655E-5Li2017 T
TH     Li2017:23717chr11:
2188664-2188664
CGsplicingUnknownsplicing14.01-Li2017 T
TJP2     Li2017:23742chr9:
71851918-71851918
GAexonicUnknownnonsynonymous SNVNM_001170415
NM_001170416
NM_001170630
NM_004817
NM_201629
NM_001170414
c.G2057A
c.G2138A
c.G2045A
c.G2045A
c.G2045A
c.G1976A
p.R686Q
p.R713Q
p.R682Q
p.R682Q
p.R682Q
p.R659Q
36.01.647E-5Li2017 T
EOMES     Li2017:23749chr3:
27758583-27758583
TCexonicUnknownnonsynonymous SNVNM_001278182
NM_001278183
NM_005442
c.A2096G
c.A1211G
c.A2039G
p.Y699C
p.Y404C
p.Y680C
15.58-Li2017 T
DHCR7     Li2017:23727chr11:
71155917-71155917
GAexonicUnknownstopgainNM_001163817
NM_001360
c.C82T
c.C82T
p.Q28X
p.Q28X
33.08.237E-6Li2017 T
KRT26     Li2017:23736chr17:
38925258-38925258
CAexonicUnknownstopgainNM_181539c.G1060Tp.E354X14.43-Li2017 T
CHL1     Li2017:23785chr3:
382569-382569
CTexonicUnknownnonsynonymous SNVNM_001253388
NM_001253387
NM_006614
c.C478T
c.C478T
c.C478T
p.P160S
p.P160S
p.P160S
19.496.616E-5Li2017 T
DIP2B     Li2017:23785chr12:
51034600-51034600
GAexonicUnknownnonsynonymous SNVNM_173602c.G266Ap.R89Q28.18.248E-6Li2017 T
NRXN1     Li2017:23778chr2:
50692611-50692611
CTexonicUnknownnonsynonymous SNVNM_004801
NM_001135659
c.G3333A
c.G3453A
p.M1111I
p.M1151I
24.8-Li2017 T
PER1     Li2017:23778chr17:
8047053-8047054
CACexonicUnknownframeshift deletionNM_002616c.2602delTp.W868fs--Li2017 T
CPT2     Li2017:23795chr1:
53676193-53676194
GCGexonicUnknownframeshift deletionNM_000098c.848delCp.A283fs--Li2017 T
NEFH     Li2017:23795chr22:
29886032-29886032
TTCexonicUnknownframeshift insertionNM_021076c.2404dupCp.S801fs--Li2017 T
DPYD     Li2017:23792chr1:
97544645-97544645
ATexonicUnknownnonsynonymous SNVNM_000110c.T2965Ap.C989S25.4-Li2017 T
SMARCA2     Li2017:23792chr9:
2077677-2077678
CACexonicUnknownframeshift deletionNM_001289396
NM_001289397
NM_003070
NM_139045
c.2086delA
c.2086delA
c.2086delA
c.2086delA
p.R696fs
p.R696fs
p.R696fs
p.R696fs
--Li2017 T
RAB3GAP1     Li2017:23812chr2:
135878392-135878392
TCexonicUnknownnonsynonymous SNVNM_001172435
NM_012233
c.T652C
c.T652C
p.C218R
p.C218R
22.4-Li2017 T
OSER1     Li2017:23834chr20:
42826309-42826309
GAexonicUnknownnonsynonymous SNVNM_016470c.C262Tp.H88Y20.5-Li2017 T
MYH9     Li2017:23806chr22:
36681972-36681972
GAexonicUnknownnonsynonymous SNVNM_002473c.C5089Tp.R1697C19.128.331E-6Li2017 T
RELN     Li2017:23806chr7:
103629801-103629803
CATCexonicUnknownframeshift deletionNM_173054
NM_005045
N/A
N/A
N/A
N/A
--Li2017 T
CHMP1A     Li2017:27806chr16:
89715864-89715864
GAexonicUnknownstopgainNM_001083314c.C127Tp.R43X24.32.0E-4Li2017 T
FBN2     Li2017:27806chr5:
127714583-127714583
TCexonicUnknownnonsynonymous SNVNM_001999c.A1604Gp.D535G21.7-Li2017 T
STIL     Li2017:23834chr1:
47770635-47770635
ATexonicUnknownnonsynonymous SNVNM_001048166
NM_003035
NM_001282936
NM_001282937
NM_001282938
NM_001282939
c.T78A
c.T78A
c.T78A
c.T78A
c.T78A
c.T78A
p.F26L
p.F26L
p.F26L
p.F26L
p.F26L
p.F26L
23.3-Li2017 T
LAMB4     Li2017:23974chr7:
107706887-107706888
CACexonicUnknownframeshift deletionNM_007356c.2604delTp.F868fs--Li2017 T
PRSS48     Li2017:27841chr4:
152203306-152203306
GAexonicUnknownstopgainNM_183375c.G222Ap.W74X12.87-Li2017 T
SAMD9     Li2017:27841chr7:
92734951-92734951
GAexonicUnknownstopgainNM_001193307
NM_017654
c.C460T
c.C460T
p.Q154X
p.Q154X
16.018.239E-6Li2017 T
PRDM15     Li2017:27806chr21:
43287454-43287454
GAexonicUnknownstopgainNM_022115c.C574Tp.Q192X15.0-Li2017 T
ASPM     Li2017:27809chr1:
197091721-197091721
TCexonicUnknownnonsynonymous SNVNM_001206846
NM_018136
c.A3395G
c.A3395G
p.E1132G
p.E1132G
27.0-Li2017 T
SASS6     Li2017:27865chr1:
100573191-100573191
AGexonicUnknownnonsynonymous SNVNM_001304829
NM_194292
c.T638C
c.T1139C
p.L213P
p.L380P
18.698.498E-6Li2017 T
DPYD     Li2017:27882chr1:
97544630-97544630
TCexonicUnknownnonsynonymous SNVNM_000110c.A2980Gp.S994G22.4-Li2017 T
KIRREL3     Li2017:27844chr11:
126316705-126316705
CAexonicUnknownnonsynonymous SNVNM_001161707
NM_001301097
NM_032531
c.G1074T
c.G1074T
c.G1074T
p.W358C
p.W358C
p.W358C
21.1-Li2017 T
LRBA     Li2017:27851chr4:
151788996-151788998
CAGCexonicUnknownframeshift deletionNM_001199282
NM_006726
c.2591_2592del
c.2591_2592del
p.S864fs
p.S864fs
--Li2017 T
TRAPPC9     Li2017:27906chr8:
141468504-141468504
TTCexonicUnknownframeshift insertionNM_031466c.159dupGp.S54fs--Li2017 T
KIF5C     Li2017:28507chr2:
149840197-149840197
AGexonicUnknownnonsynonymous SNVNM_004522c.A1633Gp.K545E33.0-Li2017 T
C11orf40     Li2017:27894chr11:
4599002-4599003
ACAexonicUnknownframeshift deletionNM_144663c.48delGp.L16fs--Li2017 T
SCN2A     Li2017:27906chr2:
166245838-166245838
CTexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.C5522T
c.C5522T
c.C5522T
p.A1841V
p.A1841V
p.A1841V
14.76-Li2017 T
KCNAB3     A08028-3chr17:
7827746-7827746
GGCexonicUnknownframeshift insertionNM_004732c.697dupGp.A233fs-4.148E-5Li2017 T
LOXL3     A08028-3 Complex Event; expand row to view variants  Unknownframeshift deletionNM_001289165
NM_001289164
NM_032603
NM_001289165
NM_001289164
NM_032603
c.1092_1095del
c.1740_1743del
c.2175_2178del
c.1097delG
c.1745delG
c.2180delG
p.H364fs
p.H580fs
p.H725fs
p.C366fs
p.C582fs
p.C727fs
--Li2017 T
Li2017 T
LRBA     Li2017:28507chr4:
151207117-151207117
GAexonicUnknownnonsynonymous SNVNM_001199282
NM_006726
c.C8084T
c.C8120T
p.A2695V
p.A2707V
34.01.0E-4Li2017 T
TRAPPC9     Li2017:28507chr8:
141461249-141461249
CTexonicUnknownnonsynonymous SNVNM_001160372
NM_031466
c.G224A
c.G518A
p.R75H
p.R173H
32.08.239E-6Li2017 T
COL28A1     A09006-2chr7:
7477024-7477024
CAsplicingUnknownsplicing15.65-Li2017 T
FBN2     A09006-2chr5:
127597456-127597457
CTCexonicUnknownframeshift deletionNM_001999c.8335delAp.R2779fs--Li2017 T
CSMD3     A08036-1chr8:
113358413-113358413
TAexonicUnknownnonsynonymous SNVNM_052900
NM_198123
NM_198124
c.A6043T
c.A6355T
c.A6235T
p.S2015C
p.S2119C
p.S2079C
25.79.065E-5Li2017 T
ASPM     A09006-2chr1:
197070597-197070599
TTCTexonicUnknownframeshift deletionNM_018136c.7782_7783delp.Q2594fs-3.0E-4Li2017 T
CNTNAP2     A09019-1chr7:
146471417-146471417
CGexonicUnknownnonsynonymous SNVNM_014141c.C152Gp.S51C23.2-Li2017 T
PDZD4     A11007chrX:
153070046-153070046
GAexonicUnknownnonsynonymous SNVNM_001303514
NM_001303512
NM_001303515
NM_001303516
NM_032512
NM_001303513
c.C745T
c.C1090T
c.C847T
c.C829T
c.C1072T
c.C784T
p.R249C
p.R364C
p.R283C
p.R277C
p.R358C
p.R262C
13.32-Li2017 T
IGF1R     A09006-2chr15:
99500484-99500484
AGexonicUnknownnonsynonymous SNVNM_000875
NM_001291858
c.A3917G
c.A3914G
p.D1306G
p.D1305G
27.6-Li2017 T
LRRK2     A09018-3chr12:
40702952-40702952
CTexonicUnknownstopgainNM_198578c.C4234Tp.R1412X44.0-Li2017 T
FBN2     A11051-2chr5:
127863565-127863565
GAexonicUnknownnonsynonymous SNVNM_001999c.C532Tp.P178S20.22.563E-5Li2017 T
LILRB2     A11051-2chr19:
54778580-54778580
GGAexonicUnknownframeshift insertionNM_001278404
NM_001080978
NM_001278403
NM_005874
c.1405_1406insT
c.1750_1751insT
c.1750_1751insT
c.1753_1754insT
p.P469fs
p.P584fs
p.P584fs
p.P585fs
--Li2017 T
DNAH3     A11031-3chr16:
21108742-21108743
CTCexonicUnknownframeshift deletionNM_017539c.2598delAp.K866fs--Li2017 T
STAB1     A11047-1chr3:
52557058-52557058
CTexonicUnknownstopgainNM_015136c.C6928Tp.R2310X46.01.82E-5Li2017 T
LAMA3     A11055-1chr18:
21453123-21453123
CTexonicUnknownstopgainNM_000227
NM_001127718
c.C115T
c.C115T
p.Q39X
p.Q39X
36.0-Li2017 T
PLXNA3     A11055-1chrX:
153698849-153698849
CTexonicUnknownnonsynonymous SNVNM_017514c.C5051Tp.S1684L23.1-Li2017 T
LILRB2     A11051-2chr19:
54778586-54778587
CTCexonicUnknownframeshift deletionNM_001278404
NM_001080978
NM_001278403
NM_005874
c.1399delA
c.1744delA
c.1744delA
c.1747delA
p.R467fs
p.R582fs
p.R582fs
p.R583fs
-1.649E-5Li2017 T
ZNF548     A11051-2chr19:
57911008-57911010
CAGCexonicUnknownframeshift deletionNM_152909
NM_001172773
c.1354_1355del
c.1390_1391del
p.R452fs
p.R464fs
-2.482E-5Li2017 T
ADAM18     A12005chr8:
39494781-39494781
AGsplicingUnknownsplicing16.97-Li2017 T
KCNK7     A12005chr11:
65363067-65363068
TGTexonicUnknownframeshift deletionNM_005714
NM_033347
NM_033348
NM_033455
c.176delC
c.176delC
c.176delC
c.176delC
p.P59fs
p.P59fs
p.P59fs
p.P59fs
--Li2017 T
CEP72     A11056-3 Complex Event; expand row to view variants  Unknownframeshift insertionNM_018140
NM_018140
c.217_218insG
c.218_219insAT
p.Q73fs
p.Q73fs
-6.654E-5Li2017 T
Li2017 T
SLC7A7     A11056-3chr14:
23248047-23248047
CTexonicUnknownstopgainNM_001126105
NM_001126106
c.G725A
c.G725A
p.W242X
p.W242X
40.0-Li2017 T
DNAH3     A12011-1chr16:
20966299-20966299
GTexonicUnknownnonsynonymous SNVNM_017539c.C10907Ap.P3636H27.82.0E-4Li2017 T
EVC2     A12011-1chr4:
5633568-5633569
CACexonicUnknownstopgainNM_001166136
NM_147127
c.1421delT
c.1661delT
p.L474X
p.L554X
--Li2017 T
KIAA0556     A12009-2chr16:
27784529-27784530
CACexonicUnknownframeshift deletionNM_015202c.4309delAp.N1437fs--Li2017 T
CDC42BPG     A12011-1chr11:
64594823-64594823
GAexonicUnknownstopgainNM_017525c.C4198Tp.Q1400X42.0-Li2017 T
KCNK7     A12011-1chr11:
65360917-65360917
CAexonicUnknownstopgainNM_005714c.G748Tp.G250X20.98.356E-6Li2017 T
MYH9     A12011-1chr22:
36685297-36685297
CTexonicUnknownnonsynonymous SNVNM_002473c.G4391Ap.R1464H35.05.355E-5Li2017 T
EVC2     A12011-1chr4:
5633571-5633573
TTCTexonicUnknownframeshift deletionNM_001166136
NM_147127
c.1417_1418del
c.1657_1658del
p.E473fs
p.E553fs
--Li2017 T
GGA2     A12011-1chr16:
23478964-23478964
CTexonicUnknownnonsynonymous SNVNM_015044c.G1789Ap.E597K36.08.635E-6Li2017 T
STAB1     ASD_F6Pchr3:
52548772-52548772
CAexonicUnknownstopgainNM_015136c.C3734Ap.S1245X40.0-Li2017 T
CHD8     A001chr14:
21862295-21862297
GAGGexonicDe novoframeshift deletionNM_001170629
NM_020920
c.5657_5658del
c.4820_4821del
p.T1886fs
p.T1607fs
--Li2017 T
MYH9     A12011-1chr22:
36693013-36693013
GAexonicUnknownnonsynonymous SNVNM_002473c.C3148Tp.R1050C27.8-Li2017 T
MSMO1     ASD_F6Pchr4:
166254756-166254756
GGAexonicUnknownframeshift insertionNM_006745c.235dupAp.M78fs--Li2017 T
KRT7     A0010chr12:
52635307-52635307
AGexonicDe novononsynonymous SNVNM_005556c.A745Gp.M249V16.071.651E-5Li2017 T
RFX3     A0013chr9:
3248163-3248165
TTATexonicDe novoframeshift deletionNM_002919
NM_001282116
NM_134428
c.1835_1836del
c.1835_1836del
c.1835_1836del
p.L612fs
p.L612fs
p.L612fs
--Li2017 T
CHRM3     A004chr1:
240072174-240072174
ATexonicDe novononsynonymous SNVNM_000740c.A1423Tp.I475F21.6-Li2017 T
CPT2     A007chr1:
53676893-53676893
TCexonicDe novononsynonymous SNVNM_000098c.T1547Cp.F516S22.4-Li2017 T
SCN2A     M01813chr2:
166179814-166179816
GAAGexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007
c.1821_1822del
c.1821_1822del
c.1821_1822del
p.R607fs
p.R607fs
p.R607fs
--Li2017 T
SYNGAP1     M02073chr6:
33405522-33405522
CGexonicDe novostopgainNM_006772c.C840Gp.Y280X34.0-Li2017 T
CDKL5     M01813chrX:
18668586-18668586
CTexonicDe novostopgainNM_003159
NM_001037343
c.C2854T
c.C2854T
p.R952X
p.R952X
38.01.0E-4Li2017 T
MECP2     M03323chrX:
153296516-153296516
GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337
c.C799T
c.C763T
c.C484T
p.R267X
p.R255X
p.R162X
33.0-Li2017 T
CHD8     M02193chr14:
21871185-21871186
ATAexonicDe novoframeshift deletionNM_001170629
NM_020920
c.3704delA
c.2867delA
p.N1235fs
p.N956fs
--Li2017 T
CHD8     M08656chr14:
21878123-21878124
ATAexonicDe novoframeshift deletionNM_001170629
NM_020920
c.2250delA
c.1413delA
p.K750fs
p.K471fs
--Li2017 T
MECP2     M04493chrX:
153296399-153296399
GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337
c.C916T
c.C880T
c.C601T
p.R306X
p.R294X
p.R201X
32.0-Li2017 T
SCN2A     M11451chr2:
166201068-166201068
CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007
c.C2566T
c.C2566T
c.C2566T
p.R856X
p.R856X
p.R856X
41.0-Li2017 T
SCN2A     M08856chr2:
166229733-166229733
ACsplicingDe novosplicing25.5-Li2017 T
STXBP1     M12428chr9:
130428475-130428477
ATCAexonicDe novoframeshift deletionNM_001032221
NM_003165
c.695_696del
c.695_696del
p.I232fs
p.I232fs
--Li2017 T
DYRK1A     M12327chr21:
38877659-38877659
GAexonicDe novononsynonymous SNVNM_001396
NM_130436
NM_130438
NM_101395
c.G1313A
c.G1286A
c.G1313A
c.G1313A
p.R438H
p.R429H
p.R438H
p.R438H
27.5-Li2017 T
SCN2A     M15222chr2:
166229841-166229841
GCexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.G3956C
c.G3956C
c.G3956C
p.R1319P
p.R1319P
p.R1319P
32.0-Li2017 T
SCN2A     M12434chr2:
166152561-166152561
GGCexonicDe novoframeshift insertionNM_001040143
NM_001040142
NM_021007
c.229dupC
c.229dupC
c.229dupC
p.V76fs
p.V76fs
p.V76fs
--Li2017 T
SCN2A     M21522chr2:
166246026-166246028
CAACexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007
c.5711_5712del
c.5711_5712del
c.5711_5712del
p.Q1904fs
p.Q1904fs
p.Q1904fs
--Li2017 T
CHD8     M16139chr14:
21882530-21882530
TCexonicDe novononsynonymous SNVNM_001170629
NM_020920
c.A2072G
c.A1235G
p.D691G
p.D412G
24.2-Li2017 T
SCN2A     M21701chr2:
166167003-166167003
AGexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.A868G
c.A868G
c.A868G
p.I290V
p.I290V
p.I290V
5.129-Li2017 T
POGZ     M21552chr1:
151379747-151379747
CTexonicDe novononsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G2111A
c.G2237A
c.G2210A
c.G2369A
c.G2396A
p.S704N
p.S746N
p.S737N
p.S790N
p.S799N
32.0-Li2017 T
SCN2A     M23243chr2:
166243497-166243499
ATTAexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007
c.4794_4795del
c.4794_4795del
c.4794_4795del
p.D1598fs
p.D1598fs
p.D1598fs
--Li2017 T
SCN2A     M23149chr2:
166245634-166245634
CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.C5318T
c.C5318T
c.C5318T
p.A1773V
p.A1773V
p.A1773V
18.44-Li2017 T
SCN2A     M3353chr2:
166172026-166172026
GTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.G1429T
c.G1429T
c.G1429T
p.A477S
p.A477S
p.A477S
10.13-Li2017 T
ADGRF2     Li2017:4chr6:
47649593-47649593
CGexonicUnknownstopgainNM_153839c.C1094Gp.S365X38.01.656E-5Li2017 T
VPS13B     Li2017:4chr8:
100871586-100871586
GCexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.G10997C
c.G10922C
p.S3666T
p.S3641T
21.1-Li2017 T
TJP2     Li2017:1chr9:
71850954-71850954
CCAexonicUnknownframeshift insertionNM_001170415
NM_001170416
NM_001170630
NM_004817
NM_201629
NM_001170414
c.1804dupA
c.1885dupA
c.1792dupA
c.1792dupA
c.1792dupA
c.1723dupA
p.D601fs
p.D628fs
p.D597fs
p.D597fs
p.D597fs
p.D574fs
--Li2017 T
FBN2     Li2017:4chr5:
127599294-127599294
GTexonicUnknownnonsynonymous SNVNM_001999c.C8015Ap.T2672N23.6-Li2017 T
CELF6       Li2017:7chr15:
72581629-72581629
CTsplicingUnknownsplicing11.99-Li2017 T
CENPJ     Li2017:10chr13:
25480954-25480955
CGCexonicUnknownframeshift deletionNM_018451c.1221delCp.S407fs--Li2017 T
ACTRT1     Li2017:7chrX:
127185248-127185248
CTexonicUnknownnonsynonymous SNVNM_138289c.G938Ap.R313K17.22-Li2017 T
ASPM     Li2017:7chr1:
197070597-197070599
TTCTexonicUnknownframeshift deletionNM_018136c.7782_7783delp.Q2594fs-3.0E-4Li2017 T
ATP6V0A2     Li2017:18chr12:
124210793-124210793
TGexonicUnknownnonsynonymous SNVNM_012463c.T482Gp.L161W21.61.647E-5Li2017 T
ANKRD31     Li2017:21chr5:
74401031-74401031
CCTCTATGGAexonicUnknownstopgainNM_001164443c.4181_4182insTCCATAGAp.E1394_S1395delinsDPX--Li2017 T
ANKRD31     Li2017:15chr5:
74491509-74491509
CAexonicUnknownstopgainNM_001164443c.G964Tp.E322X17.7-Li2017 T
AGBL1     Li2017:18chr15:
86791030-86791031
AGAexonicUnknownframeshift deletionNM_152336c.518delGp.R173fs--Li2017 T
VAV2     Li2017:21chr9:
136633641-136633641
GAexonicUnknownnonsynonymous SNVNM_003371
NM_001134398
c.C2395T
c.C2512T
p.R799W
p.R838W
20.05.778E-5Li2017 T
AGBL1     Li2017:24chr15:
86807692-86807692
CCAexonicUnknownframeshift insertionNM_152336c.1153dupAp.S384fs-1.0E-4Li2017 T
ADGRF2     Li2017:21chr6:
47649593-47649593
CGexonicUnknownstopgainNM_153839c.C1094Gp.S365X38.01.656E-5Li2017 T
LRBA     Li2017:21chr4:
151392784-151392784
GAexonicUnknownnonsynonymous SNVNM_001199282
NM_006726
c.C6659T
c.C6692T
p.T2220M
p.T2231M
24.28.301E-6Li2017 T
POMT1     Li2017:30chr9:
134386855-134386855
GAsplicingUnknownsplicing19.42-Li2017 T
SCP2     Li2017:30chr1:
53442442-53442442
GCsplicingUnknownsplicing25.1-Li2017 T
RAB3GAP1     Li2017:24chr2:
135892855-135892855
ATexonicUnknownnonsynonymous SNVNM_001172435
NM_012233
c.A1520T
c.A1520T
p.D507V
p.D507V
24.1-Li2017 T
SCN8A     Li2017:27chr12:
52180557-52180557
GAexonicUnknownnonsynonymous SNVNM_001177984
NM_014191
c.G4051A
c.G4174A
p.V1351M
p.V1392M
24.38.384E-6Li2017 T
COL28A1     Li2017:36chr7:
7545681-7545682
TGTexonicUnknownframeshift deletionNM_001037763c.989delCp.P330fs--Li2017 T
PC     Li2017:36chr11:
66638594-66638594
CTexonicUnknownnonsynonymous SNVNM_022172
NM_000920
NM_001040716
c.G562A
c.G562A
c.G562A
p.G188S
p.G188S
p.G188S
36.01.654E-5Li2017 T
INVS     Li2017:33chr9:
103002355-103002355
CCAexonicUnknownframeshift insertionNM_014425
NM_183245
c.630dupA
c.630dupA
p.T210fs
p.T210fs
--Li2017 T
TJP2     Li2017:33chr9:
71867758-71867759
ATAexonicUnknownframeshift deletionNM_201629
NM_001170414
NM_001170415
NM_001170416
NM_004817
c.2909delT
c.2840delT
c.3251delT
c.3443delT
c.3350delT
p.I970fs
p.I947fs
p.I1084fs
p.I1148fs
p.I1117fs
--Li2017 T
COL2A1     Li2017:39chr12:
48372516-48372516
GTexonicUnknownnonsynonymous SNVNM_033150
NM_001844
c.C2552A
c.C2759A
p.P851H
p.P920H
21.5-Li2017 T
MFRP     Li2017:39chr11:
119212671-119212671
CTexonicUnknownnonsynonymous SNVNM_031433c.G1411Ap.V471M22.92.494E-5Li2017 T
RPS6KB2     Li2017:36chr11:
67200076-67200076
GAexonicUnknownnonsynonymous SNVNM_003952c.G463Ap.E155K35.0-Li2017 T
RPS6KB2     Li2017:36chr11:
67201739-67201739
CTexonicUnknownnonsynonymous SNVNM_003952c.C1040Tp.P347L26.88.289E-6Li2017 T
ZNF548     Li2017:42chr19:
57911008-57911010
CAGCexonicUnknownframeshift deletionNM_152909
NM_001172773
c.1354_1355del
c.1390_1391del
p.R452fs
p.R464fs
-2.482E-5Li2017 T
DNAH3     Li2017:45chr16:
20966299-20966299
GTexonicUnknownnonsynonymous SNVNM_017539c.C10907Ap.P3636H27.82.0E-4Li2017 T
MUC4     Li2017:39chr3:
195513289-195513289
AAGexonicUnknownframeshift insertionNM_018406c.5161_5162insCp.V1721fs--Li2017 T
ARID3B     Li2017:42 Complex Event; expand row to view variants  Unknownframeshift insertionNM_001307939
NM_006465
NM_001307939
NM_006465
c.39_40insG
c.39_40insG
c.38_39insGC
c.38_39insGC
p.Q13fs
p.Q13fs
p.Q13fs
p.Q13fs
-2.907E-5Li2017 T
Li2017 T
ASPM     Li2017:15005chr1:
197072570-197072570
TTGexonicUnknownframeshift insertionNM_018136c.5810_5811insCp.G1937fs--Li2017 T
EXOSC3     Li2017:15013chr9:
37780738-37780738
CGexonicUnknownnonsynonymous SNVNM_016042c.G766Cp.A256P20.7-Li2017 T
ADGRF2     Li2017:45chr6:
47650352-47650352
AGexonicUnknownnonsynonymous SNVNM_153839c.A1853Gp.N618S21.42.496E-5Li2017 T
ASPM     Li2017:48chr1:
197073381-197073381
CTexonicUnknownnonsynonymous SNVNM_018136c.G5000Ap.R1667H24.92.498E-5Li2017 T
MUC4     Li2017:15021chr3:
195513382-195513382
GGAexonicUnknownframeshift insertionNM_018406c.5068_5069insTp.T1690fs--Li2017 T
POMGNT1     Li2017:15021chr1:
46661488-46661488
CCAexonicUnknownframeshift insertionNM_001290129
NM_001290130
NM_001243766
NM_017739
c.462dupT
c.99dupT
c.528dupT
c.528dupT
p.V155fs
p.V34fs
p.V177fs
p.V177fs
--Li2017 T
MRE11     Li2017:15013chr11:
94211910-94211910
AGexonicUnknownnonsynonymous SNVNM_005590
NM_005591
c.T535C
c.T535C
p.Y179H
p.Y179H
19.51-Li2017 T
DNAH3     Li2017:15021chr16:
20970602-20970602
CTexonicUnknownstopgainNM_017539c.G10725Ap.W3575X52.08.237E-6Li2017 T
CHL1     Li2017:15036chr3:
404971-404971
TCexonicUnknownnonsynonymous SNVNM_001253388
NM_001253387
NM_006614
c.T1490C
c.T1442C
c.T1490C
p.I497T
p.I481T
p.I497T
23.3-Li2017 T
IGF1R     Li2017:15042chr15:
99500637-99500637
GAexonicUnknownnonsynonymous SNVNM_000875
NM_001291858
c.G4070A
c.G4067A
p.R1357Q
p.R1356Q
35.05.978E-5Li2017 T
BUB1     Li2017:15030chr2:
111416077-111416077
GAexonicUnknownstopgainNM_001278616
NM_001278617
NM_004336
c.C1366T
c.C1426T
c.C1426T
p.Q456X
p.Q476X
p.Q476X
39.0-Li2017 T
KIF7     Li2017:15030chr15:
90171847-90171847
GAexonicUnknownnonsynonymous SNVNM_198525c.C3835Tp.R1279C20.82.521E-5Li2017 T
NOP2     Li2017:15051chr12:
6670111-6670111
GAexonicUnknownnonsynonymous SNVNM_001033714
NM_001258308
NM_001258310
NM_006170
NM_001258309
c.C1321T
c.C1333T
c.C1321T
c.C1321T
c.C1432T
p.R441C
p.R445C
p.R441C
p.R441C
p.R478C
22.51.682E-5Li2017 T
DNAH3     Li2017:15061chr16:
20996534-20996534
GTexonicUnknownnonsynonymous SNVNM_017539c.C7530Ap.N2510K20.5-Li2017 T
KCNAB3     Li2017:15042chr17:
7829006-7829006
AGexonicUnknownnonsynonymous SNVNM_004732c.T533Cp.I178T28.2-Li2017 T
LAMA3     Li2017:15042chr18:
21495339-21495339
CGexonicUnknownnonsynonymous SNVNM_001127718
NM_000227
NM_001127717
NM_198129
c.C2736G
c.C2904G
c.C7563G
c.C7731G
p.F912L
p.F968L
p.F2521L
p.F2577L
28.88.254E-6Li2017 T
BUB1B     Li2017:15084chr15:
40502386-40502388
ACTAexonicUnknownframeshift deletionNM_001211c.2361_2362delp.N787fs-8.338E-6Li2017 T
LAMA2     Li2017:15084chr6:
129722486-129722486
GTsplicingUnknownsplicing13.3-Li2017 T