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or
Exact

Results for "Krupp2017"

Variant Events: 1316

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
CACNA2D1     13769.p1chr7:
81662204-81662204
CGexonicDe novononsynonymous SNVNM_000722c.G1052Cp.R351T26.8-Krupp2017 E
ZNF804B     14394.p1chr7:
88389394-88389394
CTexonicDe novononsynonymous SNVNM_181646c.C104Tp.S35F19.94-Krupp2017 E
TRRAP     12320.p1chr7:
98550922-98550922
CTexonicDe novononsynonymous SNVNM_003496
NM_001244580
c.C5521T
c.C5575T
p.R1841C
p.R1859C
23.2-Krupp2017 E
TRRAP     14463.p1chr7:
98609859-98609859
CTexonicDe novononsynonymous SNVNM_003496
NM_001244580
c.C11374T
c.C11461T
p.R3792C
p.R3821C
33.0-Krupp2017 E
KPNA7     14420.p1chr7:
98786157-98786157
GAexonicDe novosynonymous SNVNM_001145715c.C666Tp.T222T--Krupp2017 E
FAM200A     13657.p1chr7:
99145668-99145668
CTexonicDe novosynonymous SNVNM_145111c.G363Ap.T121T--Krupp2017 E
CYB561D1     14252.p1chr1:
110038457-110038457
GTexonicMosaicstopgainNM_001134403c.G370Tp.G124X20.38.237E-6Krupp2017 E
CYP3A43     13236.p1chr7:
99457566-99457566
GAexonicDe novononsynonymous SNVNM_001278921
NM_022820
NM_057095
NM_057096
c.G649A
c.G979A
c.G979A
c.G979A
p.V217I
p.V327I
p.V327I
p.V327I
7.782-Krupp2017 E
TAF6     13560.p1chr7:
99711308-99711308
TCexonicDe novononsynonymous SNVNM_001190415
NM_005641
NM_139315
c.A439G
c.A328G
c.A328G
p.K147E
p.K110E
p.K110E
15.058.241E-6Krupp2017 E
ZAN     13675.p1chr7:
100388642-100388642
TCexonicDe novounknown6.842-Krupp2017 E
PLOD3     13846.p1chr7:
100850973-100850973
CTexonicMosaicsynonymous SNVNM_001084c.G1821Ap.V607V--Krupp2017 E
SLC26A5     11336.p1chr7:
103014942-103014942
GCexonicDe novononsynonymous SNVNM_001167962
NM_198999
c.C2043G
c.C2139G
p.S681R
p.S713R
11.38-Krupp2017 E
LHFPL3     13426.p1chr7:
104377229-104377229
TAexonicDe novononsynonymous SNVNM_199000c.T553Ap.S185T15.78-Krupp2017 E
PUS7     13641.p1chr7:
105108895-105108895
GAexonicDe novononsynonymous SNVNM_019042c.C1414Tp.R472C21.2-Krupp2017 E
LAMB1     13991.p1chr7:
107566657-107566657
CTexonicDe novononsynonymous SNVNM_002291c.G5035Ap.V1679M14.78-Krupp2017 E
DNAJB9     12667.p1chr7:
108213622-108213622
TGexonicDe novononsynonymous SNVNM_012328c.T497Gp.F166C18.46-Krupp2017 E
DOCK4     11099.p1chr7:
111398732-111398732
CTexonicDe novononsynonymous SNVNM_014705c.G4250Ap.R1417H17.14.186E-5Krupp2017 E
PTPRZ1     13971.p1chr7:
121624123-121624123
AGexonicDe novononsynonymous SNVNM_001206838
NM_001206839
NM_002851
c.A880G
c.A880G
c.A880G
p.R294G
p.R294G
p.R294G
9.873-Krupp2017 E
AASS     12793.p1chr7:
121766464-121766464
CAexonicDe novononsynonymous SNVNM_005763c.G437Tp.R146L33.0-Krupp2017 E
TNPO3     11169.p1chr7:
128622321-128622321
GAexonicDe novononsynonymous SNVNM_001191028
NM_012470
c.C1648T
c.C1840T
p.R550C
p.R614C
20.38.248E-6Krupp2017 E
STRIP2     14652.p1chr7:
129094327-129094327
GAexonicDe novononsynonymous SNVNM_001134336
NM_020704
c.G665A
c.G665A
p.C222Y
p.C222Y
14.67-Krupp2017 E
KLHDC10     11838.p1chr7:
129767258-129767258
CTexonicDe novostopgainNM_014997c.C946Tp.R316X37.0-Krupp2017 E
GPATCH8     11161.p1chr17:
42476555-42476555
TCexonicDe novononsynonymous SNVNM_001304943
NM_001304939
NM_001304942
NM_001002909
NM_001304941
NM_001304940
c.A2656G
c.A2815G
c.A2656G
c.A2890G
c.A2656G
c.A2656G
p.S886G
p.S939G
p.S886G
p.S964G
p.S886G
p.S886G
13.11-Krupp2017 E
AGK     13843.p1chr7:
141321569-141321569
GAexonicDe novononsynonymous SNVNM_018238c.G556Ap.E186K20.4-Krupp2017 E
TAS2R3     13922.p1chr7:
141464367-141464367
GAexonicMosaicnonsynonymous SNVNM_016943c.G409Ap.A137T16.06-Krupp2017 E
TRPV5     12839.p1chr7:
142612052-142612052
TGexonicDe novononsynonymous SNVNM_019841c.A1451Cp.K484T26.0-Krupp2017 E
OR6V1     13981.p1chr7:
142750270-142750270
TGexonicDe novononsynonymous SNVNM_001001667c.T833Gp.V278G15.67-Krupp2017 E
ZYX     13686.p1chr7:
143079776-143079776
CGexonicDe novononsynonymous SNVNM_001010972
NM_003461
c.C499G
c.C499G
p.R167G
p.R167G
13.79-Krupp2017 E
SCN2A     14280.p1chr2:
166201311-166201311
CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.C2809T
c.C2809T
c.C2809T
p.R937C
p.R937C
p.R937C
29.0-Krupp2017 E
SCN2A     11892.p1chr2:
166201379-166201379
CAexonicDe novostopgainNM_001040143
NM_001040142
NM_021007
c.C2877A
c.C2877A
c.C2877A
p.C959X
p.C959X
p.C959X
42.0-Krupp2017 E
RNF128     12597.p1chrX:
106031215-106031215
GAexonicMosaicnonsynonymous SNVNM_024539
NM_194463
c.G794A
c.G872A
p.R265H
p.R291H
23.4-Krupp2017 E
NOBOX     13911.p1chr7:
144096873-144096873
AGexonicDe novosynonymous SNVNM_001080413c.T1131Cp.P377P--Krupp2017 E
TPK1     13063.p1chr7:
144150703-144150703
CTexonicDe novononsynonymous SNVNM_001042482
NM_022445
c.G520A
c.G667A
p.G174R
p.G223R
29.75.769E-5Krupp2017 E
SCN2A     11114.p1chr2:
166210819-166210819
GTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007
c.G3037T
c.G3037T
c.G3037T
p.G1013X
p.G1013X
p.G1013X
40.0-Krupp2017 E
ZNF786     13279.p1chr7:
148777718-148777718
AGexonicDe novononsynonymous SNVNM_152411c.T110Cp.V37A13.88-Krupp2017 E
KRBA1     11773.p1chr7:
149420891-149420891
CGexonicDe novounknown13.1-Krupp2017 E
SSPO     14420.p1chr7:
149522912-149522912
CGexonicMosaicnonsynonymous SNVNM_198455c.C14131Gp.L4711V--Krupp2017 E
ZNF862     14548.p1chr7:
149544968-149544968
GAexonicMosaicnonsynonymous SNVNM_001099220c.G386Ap.R129K5.621-Krupp2017 E
GIMAP8     12740.p1chr7:
150174231-150174231
CTexonicDe novononsynonymous SNVNM_175571c.C1361Tp.T454I12.37-Krupp2017 E
SCN2A     13642.p1chr2:
166234111-166234111
CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.C4259T
c.C4259T
c.C4259T
p.T1420M
p.T1420M
p.T1420M
28.0-Krupp2017 E
NUB1     13119.p1chr7:
151072959-151072959
GCexonicDe novononsynonymous SNVNM_001243351
NM_016118
c.G1493C
c.G1451C
p.W498S
p.W484S
10.66-Krupp2017 E
KMT2C     12742.p1chr7:
151845714-151845714
GAexonicDe novononsynonymous SNVNM_170606c.C13298Tp.A4433V20.1-Krupp2017 E
MPEG1     13617.p1chr11:
58979891-58979891
CGexonicMosaicnonsynonymous SNVNM_001039396c.G448Cp.V150L18.07-Krupp2017 E
DNAJB6     14217.p1chr7:
157177678-157177678
AGexonicDe novononsynonymous SNVNM_005494
NM_058246
c.A596G
c.A596G
p.N199S
p.N199S
14.93-Krupp2017 E
NCAPG2     13400.p1chr7:
158457275-158457275
GCexonicDe novosynonymous SNVNM_001281933
NM_017760
NM_001281932
c.C1647G
c.C1647G
c.C1647G
p.A549A
p.A549A
p.A549A
2.292-Krupp2017 E
CSMD1     12906.p1chr8:
2965314-2965314
TCexonicDe novononsynonymous SNVNM_033225c.A6761Gp.Q2254R1.421-Krupp2017 E
CSMD1     14165.p1chr8:
3165969-3165969
GAexonicDe novononsynonymous SNVNM_033225c.C3688Tp.R1230C15.04-Krupp2017 E
ANGPT2     14467.p1chr8:
6360752-6360752
TCexonicDe novononsynonymous SNVNM_001118888
NM_001118887
NM_001147
c.A1205G
c.A1358G
c.A1361G
p.N402S
p.N453S
p.N454S
29.5-Krupp2017 E
TNKS     11569.p1chr8:
9567684-9567684
GCexonicDe novononsynonymous SNVNM_003747c.G1703Cp.R568T18.48-Krupp2017 E
XKR6     11415.p1chr8:
10755512-10755512
GAexonicDe novostopgainNM_173683c.C1876Tp.R626X24.3-Krupp2017 E
MTMR9     12534.p1chr8:
11172535-11172535
CAexonicDe novononsynonymous SNVNM_015458c.C1075Ap.R359S16.461.648E-5Krupp2017 E
BLK     11845.p1chr8:
11415531-11415531
TCexonicDe novononsynonymous SNVNM_001715c.T1013Cp.I338T17.594.944E-5Krupp2017 E
FDFT1     11604.p1chr8:
11683617-11683617
GAexonicDe novononsynonymous SNVNM_001287756
NM_001287750
NM_001287751
NM_001287744
NM_001287747
NM_001287748
NM_001287749
NM_004462
NM_001287743
NM_001287745
NM_001287742
c.G94A
c.G772A
c.G340A
c.G403A
c.G403A
c.G403A
c.G403A
c.G595A
c.G595A
c.G403A
c.G595A
p.E32K
p.E258K
p.E114K
p.E135K
p.E135K
p.E135K
p.E135K
p.E199K
p.E199K
p.E135K
p.E199K
9.523-Krupp2017 E
DLC1     11937.p1chr8:
13357486-13357486
TCexonicDe novononsynonymous SNVNM_024767
NM_182643
c.A95G
c.A95G
p.H32R
p.H32R
15.52-Krupp2017 E
MTUS1     11521.p1chr8:
17612610-17612610
GCexonicMosaicstopgainNM_001001924
NM_001001925
c.C707G
c.C707G
p.S236X
p.S236X
37.0-Krupp2017 E
INTS10     11941.p1chr8:
19701609-19701609
GAexonicDe novononsynonymous SNVNM_018142c.G1742Ap.R581K15.7-Krupp2017 E
BMP1     11989.p1chr8:
22067161-22067161
GAexonicDe novononsynonymous SNVNM_006129c.G2779Ap.G927S32.08.254E-6Krupp2017 E
CCAR2     13300.p1chr8:
22463609-22463609
AGexonicDe novononsynonymous SNVNM_021174c.A70Gp.T24A14.844.943E-5Krupp2017 E
EGR3     14049.p1chr8:
22550356-22550356
GAexonicDe novosynonymous SNVNM_004430c.C102Tp.N34N--Krupp2017 E
ADAMDEC1     11717.p1chr8:
24261575-24261575
CTexonicDe novosynonymous SNVNM_001145272
NM_014479
NM_001145271
c.C1143T
c.C1380T
c.C1143T
p.C381C
p.C460C
p.C381C
-8.287E-6Krupp2017 E
DPYSL2     11566.p1chr8:
26510772-26510772
CTexonicDe novononsynonymous SNVNM_001197293
NM_001244604
NM_001386
c.C1801T
c.C1378T
c.C1486T
p.R601C
p.R460C
p.R496C
23.38.261E-6Krupp2017 E
KIF13B     11658.p1chr8:
29005051-29005051
GAexonicDe novononsynonymous SNVNM_015254c.C1882Tp.R628C19.91-Krupp2017 E
IDO2     13204.p1chr8:
39872850-39872850
GAexonicDe novononsynonymous SNVNM_194294c.G992Ap.R331K10.72-Krupp2017 E
IKBKB     14634.p1chr8:
42179637-42179637
GAexonicDe novononsynonymous SNVNM_001190720
NM_001242778
NM_001556
c.G1798A
c.G1627A
c.G1804A
p.E600K
p.E543K
p.E602K
36.0-Krupp2017 E
PXDNL     13867.p1chr8:
52232506-52232506
CTexonicDe novononsynonymous SNVNM_144651c.G4337Ap.C1446Y13.15-Krupp2017 E
PXDNL     11841.p1chr8:
52320634-52320634
GAexonicDe novosynonymous SNVNM_144651c.C3550Tp.L1184L--Krupp2017 E
RAB2A     11077.p1chr8:
61484622-61484622
CTexonicDe novostopgainNM_001242644
NM_002865
c.C64T
c.C136T
p.R22X
p.R46X
28.2-Krupp2017 E
CHD7     13733.p1chr8:
61735090-61735090
GAexonicDe novononsynonymous SNVNM_017780c.G2986Ap.G996S33.0-Krupp2017 E
CA3     11495.p1chr8:
86356323-86356323
GAexonicDe novononsynonymous SNVNM_005181c.G412Ap.D138N27.33.309E-5Krupp2017 E
DCAF4L2     14563.p1chr8:
88885654-88885654
GCexonicDe novononsynonymous SNVNM_152418c.C546Gp.I182M12.45-Krupp2017 E
SLC26A7     13045.p1chr8:
92406244-92406244
AGexonicDe novononsynonymous SNVNM_001282357
NM_052832
NM_134266
NM_001282356
c.A1009G
c.A1912G
c.A1912G
c.A1912G
p.I337V
p.I638V
p.I638V
p.I638V
1.969-Krupp2017 E
FBXO43     12180.p1chr8:
101153250-101153250
GCexonicDe novononsynonymous SNVNM_001029860c.C1232Gp.A411G0.841-Krupp2017 E
RIMS2     12086.p1chr8:
104778570-104778570
GAexonicDe novononsynonymous SNVNM_001100117c.G503Ap.R168Q14.18.285E-6Krupp2017 E
EXT1     14364.p1chr8:
118831948-118831948
GAexonicDe novosynonymous SNVNM_000127c.C1503Tp.L501L-4.945E-5Krupp2017 E
DEPTOR     14459.p1chr8:
120886198-120886198
GCexonicDe novononsynonymous SNVNM_001283012
NM_022783
c.G112C
c.G112C
p.E38Q
p.E38Q
16.39-Krupp2017 E
TBC1D31     13975.p1chr8:
124140567-124140567
GCexonicMosaicnonsynonymous SNVNM_001145088
NM_145647
c.G1931C
c.G1931C
p.R644T
p.R644T
11.91-Krupp2017 E
TG     11544.p1chr8:
133935689-133935689
CTexonicDe novosynonymous SNVNM_003235c.C4635Tp.D1545D0.0168.243E-6Krupp2017 E
TOP1MT     14607.p1chr8:
144397947-144397947
CTexonicMosaicsynonymous SNVNM_001258447
NM_052963
NM_001258446
c.G1209A
c.G1503A
c.G1209A
p.L403L
p.L501L
p.L403L
2.764-Krupp2017 E
ZNF486     13769.p1chr19:
20296813-20296813
CTexonicDe novononsynonymous SNVNM_052852c.C175Tp.P59S8.813-Krupp2017 E
FBXL6     13063.p1chr8:
145580321-145580321
CTexonicDe novononsynonymous SNVNM_012162
NM_024555
c.G932A
c.G914A
p.R311H
p.R305H
2.2881.667E-5Krupp2017 E
RIC1     12661.p1chr9:
5763642-5763642
ACexonicDe novononsynonymous SNVNM_001206557
NM_001135920
NM_020829
c.A2504C
c.A2615C
c.A2615C
p.E835A
p.E872A
p.E872A
18.955.767E-5Krupp2017 E
IL33     14228.p1chr9:
6251242-6251242
CAexonicDe novononsynonymous SNVNM_001199640
NM_001314044
NM_001314045
NM_001314046
NM_001314047
NM_033439
c.C320A
c.C320A
c.C320A
c.C320A
c.C320A
c.C320A
p.A107E
p.A107E
p.A107E
p.A107E
p.A107E
p.A107E
12.35-Krupp2017 E
NFIB     14385.p1chr9:
14150143-14150143
CTsplicingDe novosplicing20.8-Krupp2017 E
SNAPC3     12591.p1chr9:
15459725-15459725
CTexonicDe novononsynonymous SNVNM_001039697c.C1097Tp.T366M28.31.65E-5Krupp2017 E
LRRC19     11957.p1chr9:
26997891-26997891
GCexonicDe novononsynonymous SNVNM_022901c.C430Gp.L144V11.65-Krupp2017 E
DNAJB5     11188.p1chr9:
34997212-34997212
CGexonicDe novononsynonymous SNVNM_001135005
NM_012266
NM_001135004
c.C1219G
c.C1003G
c.C1345G
p.P407A
p.P335A
p.P449A
14.17-Krupp2017 E
UNC13B     12310.p1chr9:
35231139-35231139
CGexonicDe novosynonymous SNVNM_006377c.C75Gp.T25T--Krupp2017 E
CYP26A1     14519.p1chr10:
94836446-94836446
AGexonicMosaicnonsynonymous SNVNM_000783
NM_057157
c.A1145G
c.A938G
p.E382G
p.E313G
17.14-Krupp2017 E
CD72     12630.p1chr9:
35611807-35611807
CTexonicDe novononsynonymous SNVNM_001782c.G944Ap.R315H0.0241.649E-5Krupp2017 E
RNF38     12056.p1chr9:
36375929-36375929
AGsplicingDe novosplicing20.7-Krupp2017 E
FBXO10       11629.p1chr9:
37541606-37541606
CTexonicDe novononsynonymous SNVNM_012166c.G160Ap.E54K20.57.625E-5Krupp2017 E
NDC80     12842.p1chr18:
2595619-2595619
CTexonicMosaicnonsynonymous SNVNM_006101c.C1220Tp.A407V14.918.376E-6Krupp2017 E
TJP2     13665.p1chr9:
71853630-71853630
GAexonicDe novosynonymous SNVNM_001170415
NM_001170416
NM_001170630
NM_004817
NM_201629
NM_001170414
c.G2292A
c.G2373A
c.G2280A
c.G2280A
c.G2280A
c.G2211A
p.T764T
p.T791T
p.T760T
p.T760T
p.T760T
p.T737T
--Krupp2017 E
APBA1     11333.p1chr9:
72047457-72047457
CTexonicDe novononsynonymous SNVNM_001163c.G2437Ap.G813R34.0-Krupp2017 E
APBA1     11558.p1chr9:
72131524-72131524
TAexonicDe novosynonymous SNVNM_001163c.A603Tp.I201I--Krupp2017 E
PTAR1     14550.p1chr9:
72333476-72333476
GCexonicDe novononsynonymous SNVNM_001099666c.C991Gp.Q331E9.474-Krupp2017 E
C9orf57     13431.p1chr9:
74667283-74667283
CTexonicDe novononsynonymous SNVNM_001128618c.G415Ap.V139I7.8864.474E-5Krupp2017 E
RORB     14314.p1chr9:
77245254-77245254
TGexonicDe novononsynonymous SNVNM_006914c.T64Gp.Y22D24.6-Krupp2017 E
TRPM6     12908.p1chr9:
77339567-77339567
TGexonicDe novononsynonymous SNVNM_001177310
NM_001177311
NM_017662
c.A6016C
c.A6016C
c.A6031C
p.T2006P
p.T2006P
p.T2011P
12.22-Krupp2017 E
TRPM6     12414.p1chr9:
77407627-77407627
AGexonicDe novosynonymous SNVNM_001177310
NM_001177311
NM_017662
c.T2436C
c.T2436C
c.T2451C
p.G812G
p.G812G
p.G817G
--Krupp2017 E
VPS13A     13623.p1chr9:
79932586-79932586
ATexonicDe novononsynonymous SNVNM_001018037
NM_001018038
NM_015186
NM_033305
c.A4811T
c.A4928T
c.A4928T
c.A4928T
p.D1604V
p.D1643V
p.D1643V
p.D1643V
16.82-Krupp2017 E
TLE4     11199.p1chr9:
82337496-82337496
CTexonicDe novononsynonymous SNVNM_001282753
NM_001282749
NM_007005
NM_001282748
NM_001282760
c.C1910T
c.C2042T
c.C2117T
c.C2213T
c.C1754T
p.S637L
p.S681L
p.S706L
p.S738L
p.S585L
35.0-Krupp2017 E
SYK     14326.p1chr9:
93626891-93626891
TCexonicDe novosynonymous SNVNM_001135052
NM_001174167
NM_001174168
NM_003177
c.T738C
c.T738C
c.T738C
c.T738C
p.Y246Y
p.Y246Y
p.Y246Y
p.Y246Y
--Krupp2017 E
FGD3     12187.p1chr9:
95782633-95782633
AGexonicDe novononsynonymous SNVNM_001083536
NM_001286993
NM_033086
c.A1421G
c.A1421G
c.A1421G
p.N474S
p.N474S
p.N474S
15.54-Krupp2017 E
TRMO     14287.p1chr9:
100672811-100672811
GAexonicDe novononsynonymous SNVNM_016481c.C497Tp.P166L36.04.119E-5Krupp2017 E
MRPL50     13688.p1chr9:
104153072-104153072
CAexonicDe novosynonymous SNVNM_019051c.G153Tp.V51V--Krupp2017 E
MRPL50     12265.p1chr9:
104160870-104160870
GCexonicDe novononsynonymous SNVNM_019051c.C5Gp.A2G20.78.244E-6Krupp2017 E
ABCA1     11149.p1chr9:
107558453-107558453
GCexonicDe novononsynonymous SNVNM_005502c.C5263Gp.P1755A26.8-Krupp2017 E
ZNF462     11445.p1chr9:
109692806-109692806
CAexonicDe novononsynonymous SNVNM_021224c.C5848Ap.P1950T14.08-Krupp2017 E
PTGR1     11526.p1chr9:
114341206-114341206
CTexonicDe novononsynonymous SNVNM_001146108
NM_001146109
NM_012212
c.G521A
c.G521A
c.G521A
p.G174E
p.G174E
p.G174E
16.61-Krupp2017 E
KIAA1958     12392.p1chr9:
115337394-115337394
AGexonicDe novononsynonymous SNVNM_001287036
NM_001287038
NM_133465
c.A1034G
c.A1034G
c.A1034G
p.H345R
p.H345R
p.H345R
8.419-Krupp2017 E
INIP     14548.p1chr9:
115456456-115456456
TGexonicDe novononsynonymous SNVNM_021218c.A83Cp.K28T14.89-Krupp2017 E
AMBP     13993.p1chr9:
116824955-116824955
AGsplicingDe novosplicing13.58-Krupp2017 E
PHF19     12304.p1chr9:
123636848-123636848
CTexonicDe novononsynonymous SNVNM_001009936
NM_001286840
NM_001286843
NM_015651
c.G172A
c.G229A
c.G172A
c.G172A
p.G58R
p.G77R
p.G58R
p.G58R
29.7-Krupp2017 E
MRRF     13692.p1chr9:
125054092-125054092
GAexonicDe novononsynonymous SNVNM_001173512
NM_199177
NM_138777
c.G368A
c.G524A
c.G524A
p.G123E
p.G175E
p.G175E
20.1-Krupp2017 E
GAPVD1     14368.p1chr9:
128092441-128092441
CGexonicDe novononsynonymous SNVNM_001282681
NM_015635
NM_001282679
NM_001282680
c.C2054G
c.C2117G
c.C2117G
c.C2117G
p.T685S
p.T706S
p.T706S
p.T706S
21.1-Krupp2017 E
FAM129B     13160.p1chr9:
130279248-130279248
GAexonicDe novosynonymous SNVNM_001035534
NM_022833
c.C822T
c.C861T
p.F274F
p.F287F
-1.651E-5Krupp2017 E
NUP188     11937.p1chr9:
131715118-131715118
CAexonicDe novononsynonymous SNVNM_015354c.C154Ap.P52T29.3-Krupp2017 E
ABL1     14373.p1chr9:
133730284-133730284
CTexonicDe novononsynonymous SNVNM_005157
NM_007313
c.C350T
c.C407T
p.T117M
p.T136M
33.0-Krupp2017 E
SETX     14061.p1chr9:
135153629-135153629
CTexonicDe novononsynonymous SNVNM_015046c.G6670Ap.G2224S32.08.237E-6Krupp2017 E
SETX     13758.p1chr9:
135202535-135202535
CTexonicDe novononsynonymous SNVNM_015046c.G4450Ap.E1484K6.973-Krupp2017 E
NOTCH1     11097.p1chr9:
139390959-139390959
GAexonicDe novononsynonymous SNVNM_017617c.C7232Tp.P2411L1.913-Krupp2017 E
CCDC183     11337.p1chr9:
139699840-139699840
GAexonicDe novononsynonymous SNVNM_001039374c.G879Ap.M293I11.76-Krupp2017 E
ABCA2     12225.p1chr9:
139906388-139906388
CTexonicDe novononsynonymous SNVNM_001606
NM_212533
c.G5443A
c.G5533A
p.V1815M
p.V1845M
15.358.46E-6Krupp2017 E
TUBB4B     14686.p1chr9:
140137227-140137227
CTexonicDe novononsynonymous SNVNM_006088c.C557Tp.T186I18.1-Krupp2017 E
PNPLA7     12249.p1chr9:
140357232-140357232
TGexonicDe novononsynonymous SNVNM_152286
NM_001098537
c.A3322C
c.A3397C
p.S1108R
p.S1133R
20.1-Krupp2017 E
UBR3     12161.p1chr2:
170732430-170732430
ACexonicDe novononsynonymous SNVNM_172070c.A815Cp.N272T14.74-Krupp2017 E
ECHDC3     14404.p1chr10:
11789383-11789383
CTexonicDe novononsynonymous SNVNM_024693c.C206Tp.A69V23.98.237E-6Krupp2017 E
PRPF18     14526.p1chr10:
13629108-13629108
AGexonicDe novononsynonymous SNVNM_003675c.A22Gp.I8V19.03-Krupp2017 E
NMT2     12539.p1chr10:
15183471-15183471
ATexonicDe novononsynonymous SNVNM_001308295
NM_004808
c.T114A
c.T196A
p.S38R
p.S66T
14.97-Krupp2017 E
ITGA8     13306.p1chr10:
15634273-15634273
GAexonicDe novononsynonymous SNVNM_001291494
NM_003638
c.C2197T
c.C2242T
p.R733C
p.R748C
24.21.0E-4Krupp2017 E
SLC39A12     12261.p1chr10:
18250538-18250538
TCexonicDe novononsynonymous SNVNM_001145195
NM_001282733
NM_152725
c.T290C
c.T290C
c.T290C
p.I97T
p.I97T
p.I97T
11.1-Krupp2017 E
ARMC3     12941.p1chr10:
23297836-23297836
GCexonicDe novononsynonymous SNVNM_001282747
NM_001282745
NM_001282746
NM_173081
c.G1232C
c.G2000C
c.G2021C
c.G2021C
p.S411T
p.S667T
p.S674T
p.S674T
6.78-Krupp2017 E
YME1L1     14009.p1chr10:
27431317-27431317
TCexonicDe novosynonymous SNVNM_014263
NM_139312
c.A429G
c.A600G
p.P143P
p.P200P
--Krupp2017 E
JCAD     13271.p1chr10:
30317090-30317090
CTexonicDe novononsynonymous SNVNM_020848c.G1987Ap.D663N17.68-Krupp2017 E
HNRNPF     11043.p1chr10:
43883191-43883191
TCexonicDe novononsynonymous SNVNM_001098208
NM_001098204
NM_001098205
NM_001098206
NM_001098207
NM_004966
c.A142G
c.A142G
c.A142G
c.A142G
c.A142G
c.A142G
p.T48A
p.T48A
p.T48A
p.T48A
p.T48A
p.T48A
10.65-Krupp2017 E
SYT15     14572.p1chr10:
46968675-46968675
AGexonicMosaicsynonymous SNVNM_031912
NM_181519
c.T261C
c.T261C
p.D87D
p.D87D
-1.685E-5Krupp2017 E
WDFY4     11178.p1chr10:
50109868-50109868
CAexonicDe novononsynonymous SNVNM_020945c.C7546Ap.L2516M15.88-Krupp2017 E
PCDH15     14423.p1chr10:
55581663-55581663
GAexonicDe novosynonymous SNVNM_001142767
NM_001142765
NM_001142766
NM_001142773
NM_001142768
NM_033056
NM_001142764
NM_001142763
c.C5703T
c.C5616T
c.C5814T
c.C5754T
c.C5763T
c.C5823T
c.C5829T
c.C5844T
p.V1901V
p.V1872V
p.V1938V
p.V1918V
p.V1921V
p.V1941V
p.V1943V
p.V1948V
-8.244E-6Krupp2017 E
PCDH15     14400.p1chr10:
55698706-55698706
CTexonicDe novononsynonymous SNVNM_001142765
NM_001142767
NM_001142768
NM_001142773
NM_001142764
NM_001142766
NM_033056
NM_001142763
c.G3029A
c.G3131A
c.G3176A
c.G3176A
c.G3242A
c.G3242A
c.G3242A
c.G3257A
p.G1010E
p.G1044E
p.G1059E
p.G1059E
p.G1081E
p.G1081E
p.G1081E
p.G1086E
6.738-Krupp2017 E
BICC1     12367.p1chr10:
60558214-60558214
CGexonicDe novosynonymous SNVNM_001080512c.C1422Gp.L474L--Krupp2017 E
ANK3     11736.p1chr10:
61967911-61967911
GAexonicDe novosynonymous SNVNM_001204404
NM_020987
NM_001204403
c.C1026T
c.C1077T
c.C1059T
p.P342P
p.P359P
p.P353P
-4.946E-5Krupp2017 E
C1orf174     14330.p1chr1:
3806547-3806547
CTexonicMosaicnonsynonymous SNVNM_207356c.G709Ap.D237N24.09.061E-5Krupp2017 E
VPS13D     12108.p1chr1:
12428626-12428626
CTexonicMosaicstopgainNM_018156
NM_015378
c.C10477T
c.C10552T
p.R3493X
p.R3518X
53.08.31E-6Krupp2017 E
CTNNA3     13829.p1chr10:
68535201-68535201
CAsplicingDe novosplicing23.1-Krupp2017 E
TET1     11242.p1chr10:
70333978-70333978
AGexonicDe novononsynonymous SNVNM_030625c.A1883Gp.K628R15.29-Krupp2017 E
CFAP74     13215.p1chr1:
1900192-1900192
CTexonicMosaicnonsynonymous SNVNM_001304360c.G1127Ap.R376K12.658.28E-6Krupp2017 E
PPP1R8     11432.p1chr1:
28169828-28169828
GAexonicMosaicsynonymous SNVNM_014110
NM_138558
c.G624A
c.G198A
p.E208E
p.E66E
--Krupp2017 E
DDX50     14251.p1chr10:
70670829-70670829
GAexonicDe novononsynonymous SNVNM_024045c.G466Ap.G156R24.1-Krupp2017 E
MACF1     13502.p1chr1:
39784265-39784265
CTexonicMosaicnonsynonymous SNVNM_012090c.C3938Tp.S1313L23.41.0E-4Krupp2017 E
KIF17     13274.p1chr1:
21031010-21031010
GAexonicMosaicsynonymous SNVNM_001122819
NM_001287212
NM_020816
c.C1053T
c.C753T
c.C1053T
p.R351R
p.R251R
p.R351R
-1.0E-4Krupp2017 E
ECD     13928.p1chr10:
74896584-74896584
CTexonicDe novononsynonymous SNVNM_001135753
NM_007265
NM_001135752
c.G1453A
c.G1582A
c.G1681A
p.E485K
p.E528K
p.E561K
0.825-Krupp2017 E
STMN1     14471.p1chr1:
26228141-26228141
AGexonicMosaicsynonymous SNVNM_001145454
NM_005563
NM_203399
NM_203401
c.T219C
c.T219C
c.T219C
c.T219C
p.A73A
p.A73A
p.A73A
p.A73A
--Krupp2017 E
C8A     12604.p1chr1:
57347157-57347157
CTexonicMosaicsynonymous SNVNM_000562c.C504Tp.Y168Y-8.244E-6Krupp2017 E
FGGY     11387.p1chr1:
60106970-60106970
TGexonicMosaicnonsynonymous SNVNM_001113411c.T1240Gp.Y414D2.888-Krupp2017 E
MACF1     12521.p1chr1:
39903616-39903616
GAexonicMosaicsynonymous SNVNM_012090c.G11979Ap.L3993L5.037-Krupp2017 E
RAD54L     12827.p1chr1:
46726433-46726433
GAexonicMosaicnonsynonymous SNVNM_003579
NM_001142548
c.G512A
c.G512A
p.R171Q
p.R171Q
18.219.885E-5Krupp2017 E
SLAMF9     12157.p1chr1:
159922117-159922117
CTexonicMosaicnonsynonymous SNVNM_033438c.G599Ap.C200Y17.47-Krupp2017 E
KLHL12     14678.p1chr1:
202880289-202880289
CTexonicMosaicnonsynonymous SNVNM_001303051
NM_001303109
NM_021633
c.G724A
c.G610A
c.G610A
p.V242M
p.V204M
p.V204M
33.0-Krupp2017 E
CHD1L     13187.p1chr1:
146728216-146728216
CTexonicMosaicnonsynonymous SNVNM_001256336
NM_004284
NM_024568
c.C194T
c.C494T
c.C155T
p.S65L
p.S165L
p.S52L
14.85-Krupp2017 E
MEF2D     14446.p1chr1:
156452416-156452416
CTexonicMosaicnonsynonymous SNVNM_001271629
NM_005920
c.G71A
c.G71A
p.R24Q
p.R24Q
35.0-Krupp2017 E
EFCAB2     11382.p1chr1:
245250572-245250572
GTexonicMosaicnonsynonymous SNVNM_001290327
NM_032328
c.G429T
c.G399T
p.M143I
p.M133I
15.84-Krupp2017 E
PTEN     13991.p1chr10:
89692790-89692790
GAexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.G274A
c.G793A
p.D92N
p.D265N
33.0-Krupp2017 E
PPM1G     11132.p1chr2:
27604615-27604615
TCexonicMosaicnonsynonymous SNVNM_177983c.A1492Gp.M498V13.7-Krupp2017 E
PTEN     11390.p1chr10:
89711882-89711882
CAexonicDe novononsynonymous SNVNM_000314
NM_001304717
c.C500A
c.C1019A
p.T167N
p.T340N
28.6-Krupp2017 E
RPS6KC1     13446.p1chr1:
213302953-213302953
CAexonicMosaicnonsynonymous SNVNM_001136138
NM_001287221
NM_012424
NM_001287218
NM_001287219
c.C520A
c.C13A
c.C556A
c.C13A
c.C13A
p.Q174K
p.Q5K
p.Q186K
p.Q5K
p.Q5K
16.31-Krupp2017 E
SUSD4     11869.p1chr1:
223465897-223465897
CTexonicMosaicnonsynonymous SNVNM_001037175
NM_017982
c.G245A
c.G245A
p.R82Q
p.R82Q
20.2-Krupp2017 E
NEB     14256.p1chr2:
152543981-152543981
GAexonicMosaicsynonymous SNVNM_001164507
NM_001164508
NM_001271208
NM_004543
c.C2589T
c.C2589T
c.C2589T
c.C2589T
p.D863D
p.D863D
p.D863D
p.D863D
-1.0E-4Krupp2017 E
BAZ2B       13694.p1chr2:
160239207-160239207
GAexonicMosaicstopgainNM_001289975
NM_013450
c.C3760T
c.C3868T
p.R1254X
p.R1290X
45.09.922E-6Krupp2017 E
COX5B     14665.p1chr2:
98263555-98263555
GAexonicMosaicsynonymous SNVNM_001862c.G129Ap.Q43Q--Krupp2017 E
LRP1B     11459.p1chr2:
141291600-141291600
TCexonicMosaicsynonymous SNVNM_018557c.A7752Gp.L2584L--Krupp2017 E
ALDH18A1     11931.p1chr10:
97371016-97371016
CGexonicDe novononsynonymous SNVNM_001017423
NM_002860
c.G2101C
c.G2107C
p.D701H
p.D703H
14.45-Krupp2017 E
MMS19     11068.p1chr10:
99223622-99223622
AGexonicDe novosynonymous SNVNM_001289403
NM_001289404
NM_022362
NM_001289405
c.T1776C
c.T1428C
c.T1905C
c.T1905C
p.S592S
p.S476S
p.S635S
p.S635S
9.585-Krupp2017 E
MOGAT1     13043.p1chr2:
223554125-223554125
TCexonicMosaicnonsynonymous SNVNM_058165c.T415Cp.Y139H7.745-Krupp2017 E
COL4A3     12249.p1chr2:
228120751-228120751
GAexonicMosaicnonsynonymous SNVNM_000091c.G898Ap.G300R16.412.491E-5Krupp2017 E
TTN     11462.p1chr2:
179605302-179605302
GTexonicMosaicnonsynonymous SNVNM_003319
NM_001256850
NM_133432
NM_133437
NM_001267550
c.C11569A
c.C11707A
c.C11944A
c.C12145A
c.C12658A
p.P3857T
p.P3903T
p.P3982T
p.P4049T
p.P4220T
2.579-Krupp2017 E
SEMA4G     12685.p1chr10:
102740667-102740667
TCexonicDe novononsynonymous SNVNM_001203244
NM_017893
c.T1556C
c.T1556C
p.L519S
p.L519S
20.6-Krupp2017 E
ATG9A     12690.p1chr2:
220085973-220085973
GAexonicMosaicnonsynonymous SNVNM_024085
NM_001077198
c.C2197T
c.C2197T
p.R733W
p.R733W
21.01.107E-5Krupp2017 E
D2HGDH     11513.p1chr2:
242684178-242684178
AGexonicMosaicnonsynonymous SNVNM_001287249
NM_152783
c.A337G
c.A739G
p.T113A
p.T247A
27.4-Krupp2017 E
ATP2B2     12473.p1chr3:
10384596-10384596
CTexonicDe novosynonymous SNVNM_001683
NM_001001331
c.G2622A
c.G2757A
p.T874T
p.T919T
--Krupp2017 E
ATR     12611.p1chr3:
142185303-142185303
TCexonicMosaicnonsynonymous SNVNM_001184c.A6760Gp.T2254A14.61-Krupp2017 E
SP140     11382.p1chr2:
231103053-231103053
GTexonicMosaicnonsynonymous SNVNM_001005176
NM_001278451
NM_001278452
NM_001278453
NM_007237
c.G363T
c.G363T
c.G363T
c.G363T
c.G363T
p.M121I
p.M121I
p.M121I
p.M121I
p.M121I
9.291-Krupp2017 E
PDCD11     14643.p1chr10:
105184868-105184868
GAexonicDe novononsynonymous SNVNM_014976c.G2891Ap.R964H13.846.59E-5Krupp2017 E
KIF1A     12028.p1chr2:
241724471-241724471
CTexonicMosaicnonsynonymous SNVNM_004321
NM_001244008
c.G655A
c.G655A
p.A219T
p.A219T
29.8-Krupp2017 E
CALHM3     13350.p1chr10:
105238707-105238707
GAexonicDe novononsynonymous SNVNM_001129742c.C83Tp.A28V11.92-Krupp2017 E
SCN10A     13809.p1chr3:
38770255-38770255
CTexonicMosaicsynonymous SNVNM_001293307
NM_001293306
NM_006514
c.G2124A
c.G2418A
c.G2418A
p.K708K
p.K806K
p.K806K
--Krupp2017 E
SORCS1     14151.p1chr10:
108389096-108389096
CTexonicDe novosynonymous SNVNM_001013031
NM_001206569
NM_001206570
NM_001206571
NM_001206572
NM_052918
c.G2526A
c.G2526A
c.G2526A
c.G2526A
c.G2526A
c.G2526A
p.A842A
p.A842A
p.A842A
p.A842A
p.A842A
p.A842A
-4.973E-5Krupp2017 E
CTNNB1     12139.p1chr3:
41274877-41274877
GAexonicMosaicnonsynonymous SNVNM_001098209
NM_001098210
NM_001904
c.G1127A
c.G1127A
c.G1127A
p.R376H
p.R376H
p.R376H
32.0-Krupp2017 E
HDAC11     12591.p1chr3:
13522828-13522828
ATexonicMosaicnonsynonymous SNVNM_001136041
NM_024827
c.A1T
c.A85T
p.M1L
p.M29L
7.733-Krupp2017 E
SLC22A14     12523.p1chr3:
38349069-38349069
CTexonicMosaicsynonymous SNVNM_004803c.C633Tp.Y211Y-1.0E-4Krupp2017 E
ADD3     14479.p1chr10:
111872668-111872668
CAexonicDe novononsynonymous SNVNM_001121
NM_016824
NM_019903
c.C329A
c.C329A
c.C329A
p.P110H
p.P110H
p.P110H
25.8-Krupp2017 E
LEKR1     13050.p1chr3:
156570593-156570593
GAexonicMosaicnonsynonymous SNVNM_001004316
NM_001193283
c.G85A
c.G85A
p.V29I
p.V29I
18.22-Krupp2017 E
LRRC34     14013.p1chr3:
169513985-169513985
TAexonicMosaicnonsynonymous SNVNM_001172780c.A1081Tp.I361F--Krupp2017 E
TCF7L2     12090.p1chr10:
114910883-114910883
GAsplicingDe novosplicing19.91-Krupp2017 E
CCR3     13534.p1chr3:
46307288-46307288
CTexonicMosaicsynonymous SNVNM_178329
NM_001164680
NM_001837
NM_178328
c.C639T
c.C693T
c.C639T
c.C702T
p.L213L
p.L231L
p.L213L
p.L234L
-2.476E-5Krupp2017 E
MAP4     11842.p1chr3:
47918907-47918907
CTexonicMosaicsynonymous SNVNM_001134364
NM_002375
c.G2106A
c.G2106A
p.K702K
p.K702K
14.09-Krupp2017 E
NRAP     14563.p1chr10:
115406755-115406755
CTexonicDe novononsynonymous SNVNM_001261463
NM_006175
NM_198060
c.G920A
c.G920A
c.G920A
p.G307E
p.G307E
p.G307E
27.4-Krupp2017 E
DLG1     13129.p1chr3:
197023283-197023283
GAexonicMosaicstopgainNM_001098424
NM_001204386
NM_001290983
NM_004087
c.C85T
c.C85T
c.C85T
c.C85T
p.Q29X
p.Q29X
p.Q29X
p.Q29X
40.0-Krupp2017 E
LRCH3     11356.p1chr3:
197562676-197562676
CTexonicMosaicnonsynonymous SNVNM_032773c.C1234Tp.R412W18.088.237E-6Krupp2017 E
EHHADH     13154.p1chr3:
184910031-184910031
GAexonicMosaicnonsynonymous SNVNM_001166415
NM_001966
c.C1867T
c.C2155T
p.P623S
p.P719S
9.99-Krupp2017 E
CLDN1     13322.p1chr3:
190030680-190030680
ACexonicMosaicsynonymous SNVNM_021101c.T369Gp.G123G-8.238E-6Krupp2017 E
PNLIPRP2     14183.p1chr10:
118385459-118385459
AGexonicDe novounknown--Krupp2017 E
FAM45A     12011.p1chr10:
120877119-120877119
GAexonicDe novononsynonymous SNVNM_001303112
NM_207009
NM_001303111
c.G202A
c.G421A
c.G397A
p.G68S
p.G141S
p.G133S
34.01.648E-5Krupp2017 E
PDE6B     13867.p1chr4:
652788-652788
CTexonicMosaicsynonymous SNVNM_001145292
NM_000283
NM_001145291
c.C612T
c.C1449T
c.C1449T
p.D204D
p.D483D
p.D483D
-8.345E-6Krupp2017 E
NWD2     11928.p1chr4:
37446620-37446620
CAexonicMosaicnonsynonymous SNVNM_001144990c.C3010Ap.Q1004K9.881-Krupp2017 E
PRDX3     13850.p1chr10:
120933327-120933327
GAexonicMosaicsynonymous SNVNM_001302272
NM_006793
c.C369T
c.C369T
p.H123H
p.H123H
--Krupp2017 E
PIGG     13701.p1chr4:
499570-499570
CTexonicMosaicsynonymous SNVNM_001127178
NM_001289051
NM_001289053
NM_001289057
NM_017733
NM_001289055
c.C424T
c.C157T
c.C157T
c.C157T
c.C424T
c.C58T
p.L142L
p.L53L
p.L53L
p.L53L
p.L142L
p.L20L
--Krupp2017 E
PIGG     12473.p1chr4:
517523-517523
CTexonicDe novosynonymous SNVNM_001289052
NM_001127178
NM_001289051
NM_017733
c.C1491T
c.C1890T
c.C1623T
c.C1866T
p.V497V
p.V630V
p.V541V
p.V622V
-1.654E-5Krupp2017 E
MMRN1     11969.p1chr4:
90874301-90874301
CTexonicMosaicnonsynonymous SNVNM_007351c.C3419Tp.P1140L20.72.479E-5Krupp2017 E
CENPE     11057.p1chr4:
104066794-104066794
CTexonicMosaicsynonymous SNVNM_001286734
NM_001813
c.G4383A
c.G4458A
p.L1461L
p.L1486L
--Krupp2017 E
EDRF1     14207.p1chr10:
127417959-127417959
AGexonicDe novosynonymous SNVNM_015608
NM_001202438
c.A825G
c.A927G
p.L275L
p.L309L
-1.651E-5Krupp2017 E
APBB2     13169.p1chr4:
40818170-40818170
CGexonicMosaicnonsynonymous SNVNM_001166051
NM_001166052
NM_001166053
NM_001166054
NM_173075
NM_001166050
NM_004307
c.G572C
c.G572C
c.G572C
c.G572C
c.G2150C
c.G2216C
c.G2219C
p.R191P
p.R191P
p.R191P
p.R191P
p.R717P
p.R739P
p.R740P
20.8-Krupp2017 E
TIGD2     11347.p1chr4:
90034383-90034383
GTexonicMosaicnonsynonymous SNVNM_145715c.G258Tp.W86C14.32-Krupp2017 E
GLRB     11676.p1chr4:
158091801-158091801
GAexonicMosaicnonsynonymous SNVNM_000824
NM_001166060
c.G1415A
c.G1415A
p.R472Q
p.R472Q
34.0-Krupp2017 E
DDX60     11180.p1chr4:
169195105-169195105
CGexonicMosaicnonsynonymous SNVNM_017631c.G2434Cp.V812L15.53-Krupp2017 E
DOCK1     14565.p1chr10:
129242541-129242541
CTexonicDe novononsynonymous SNVNM_001290223
NM_001380
c.C5411T
c.C5348T
p.S1804L
p.S1783L
14.23-Krupp2017 E
TET2     11382.p1chr4:
106180819-106180819
GTexonicMosaicnonsynonymous SNVNM_001127208c.G3847Tp.A1283S34.0-Krupp2017 E
LRBA     11462.p1chr4:
151749715-151749715
GTexonicMosaicnonsynonymous SNVNM_001199282
NM_006726
c.C4788A
c.C4788A
p.S1596R
p.S1596R
13.43-Krupp2017 E
C1QTNF3     14011.p1chr5:
34043091-34043091
GAexonicMosaicnonsynonymous SNVNM_181435c.C140Tp.T47I16.0-Krupp2017 E
EBF3     14228.p1chr10:
131639146-131639146
CGexonicDe novononsynonymous SNVNM_001005463c.G1496Cp.G499A15.44-Krupp2017 E
OXCT1     13798.p1chr5:
41850175-41850175
TCexonicMosaicnonsynonymous SNVNM_000436c.A521Gp.Y174C21.7-Krupp2017 E
OTULIN     12228.p1chr5:
14693136-14693136
GTexonicMosaicsynonymous SNVNM_138348c.G1038Tp.V346V10.81-Krupp2017 E
DROSHA     13333.p1chr5:
31406995-31406995
GAexonicMosaicsynonymous SNVNM_001100412
NM_013235
c.C3801T
c.C3912T
p.F1267F
p.F1304F
--Krupp2017 E
PSD2     13093.p1chr5:
139219740-139219740
CGexonicMosaicnonsynonymous SNVNM_032289c.C2097Gp.H699Q15.16-Krupp2017 E
SLC4A9     11969.p1chr5:
139750705-139750705
GAexonicMosaicnonsynonymous SNVNM_001258427
NM_001258426
NM_001258428
NM_031467
c.G2264A
c.G2411A
c.G2525A
c.G2453A
p.G755D
p.G804D
p.G842D
p.G818D
31.0-Krupp2017 E
MSH3     12710.p1chr5:
80169078-80169078
GAexonicMosaicnonsynonymous SNVNM_002439c.G3274Ap.E1092K32.0-Krupp2017 E
EPB41L4A     14179.p1chr5:
111506680-111506680
GAexonicMosaicsynonymous SNVNM_022140c.C1632Tp.P544P-2.0E-4Krupp2017 E
CREBRF     12274.p1chr5:
172550144-172550144
AGexonicMosaicsynonymous SNVNM_153607c.A1743Gp.P581P-8.249E-6Krupp2017 E
VARS     11084.p1chr6:
31749930-31749930
CGexonicMosaicsynonymous SNVNM_006295c.G2175Cp.L725L8.547-Krupp2017 E
NDST1     12362.p1chr5:
149912558-149912558
TCexonicMosaicnonsynonymous SNVNM_001301063
NM_001543