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Results for "Tuncay2023"

Variant Events: 278

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
APBB2     MCD-008-3chr4:
41015866-41015866
GTexonicBoth parentsnonsynonymous SNVNM_001166050
NM_004307
NM_173075
c.C569A
c.C569A
c.C569A
p.S190Y
p.S190Y
p.S190Y
7.3945.0E-4Tuncay2023 G
TCF7L2     MCD-005-3chr10:
114849211-114849211
CAexonicBoth parentsnonsynonymous SNVNM_001146283c.C536Ap.P179H16.232.0E-4Tuncay2023 G
FGFBP1     MCD-011-3chr4:
15937843-15937843
AGexonicBoth parentsnonsynonymous SNVNM_005130c.T413Cp.V138A15.39-Tuncay2023 G
ANKRD53     MCD-010-3chr2:
71206384-71206384
TGexonicBoth parentsnonsynonymous SNVNM_001115116
NM_024933
c.T328G
c.T328G
p.Y110D
p.Y110D
14.082.0E-4Tuncay2023 G
EXT2     MCD-001-3chr11:
44129645-44129645
GAexonicBoth parentsnonsynonymous SNVNM_000401
NM_001178083
NM_207122
c.G482A
c.G383A
c.G383A
p.R161Q
p.R128Q
p.R128Q
24.62.472E-5Tuncay2023 G
PLK1     MCD-002-3chr16:
23695366-23695366
GAexonicBoth parentsnonsynonymous SNVNM_005030c.G992Ap.S331N9.3111.647E-5Tuncay2023 G
ARHGEF18       MCD-001-4chr19:
7532347-7532347
CTexonicBoth parentsnonsynonymous SNVNM_001130955
NM_015318
c.C2693T
c.C2219T
p.A898V
p.A740V
13.3-Tuncay2023 G
ANKRD37     MCD-020-3chr4:
186318406-186318406
GAexonicBoth parentsnonsynonymous SNVNM_181726c.G130Ap.A44T17.142.0E-4Tuncay2023 G
RDH13     MCD-018-3chr19:
55560054-55560054
CTexonicBoth parentsnonsynonymous SNVNM_001145971
NM_138412
c.G418A
c.G205A
p.E140K
p.E69K
36.06.0E-4Tuncay2023 G
STARD13     MCD-020-4chr13:
33703702-33703702
GAexonicBoth parentsnonsynonymous SNVNM_001243466
NM_001243474
NM_052851
NM_178006
NM_178007
NM_001243476
c.C1088T
c.C758T
c.C758T
c.C1112T
c.C1088T
c.C1007T
p.A363V
p.A253V
p.A253V
p.A371V
p.A363V
p.A336V
20.48.0E-4Tuncay2023 G
MORN1     MCD-020-4chr1:
2305932-2305932
TGexonicBoth parentsnonsynonymous SNVNM_001301060
NM_024848
c.A602C
c.A602C
p.Y201S
p.Y201S
12.335.0E-4Tuncay2023 G
MAGEB1     MCD-014-3chrX:
30269377-30269377
ACexonicMaternal, Both parentsnonsynonymous SNVNM_177404
NM_177415
NM_002363
c.A767C
c.A767C
c.A767C
p.K256T
p.K256T
p.K256T
6.631.142E-5Tuncay2023 G
Tuncay2023 G
GPR143     MCD-014-3chrX:
9693868-9693868
CTexonicMaternal, Both parentsnonsynonymous SNVNM_000273c.G1133Ap.S378N12.766.0E-4Tuncay2023 G
Tuncay2023 G
AP5Z1     MCD-018-3chr7:
4830879-4830879
GAexonicBoth parentsnonsynonymous SNVNM_014855c.G2287Ap.V763M25.11.0E-4Tuncay2023 G
PLXNB3     MCD-014-3chrX:
153035691-153035691
CTexonicMaternal, Both parentsnonsynonymous SNVNM_005393
NM_001163257
c.C1774T
c.C1843T
p.P592S
p.P615S
15.31-Tuncay2023 G
Tuncay2023 G
XRRA1     MCD-027-3chr11:
74638465-74638465
CTexonicBoth parentsnonsynonymous SNVNM_001270380
NM_182969
c.G469A
c.G469A
p.V157M
p.V157M
22.78.486E-6Tuncay2023 G
XRRA1     MCD-027-3chr11:
74570283-74570283
CTexonicBoth parentsnonsynonymous SNVNM_182969c.G1066Ap.V356M21.5-Tuncay2023 G
SACS     MCD-029-3chr13:
23929189-23929189
CGexonicBoth parentsnonsynonymous SNVNM_001278055
NM_014363
c.G1121C
c.G1562C
p.S374T
p.S521T
12.485.792E-5Tuncay2023 G
EMCN     MCD-028-3chr4:
101331507-101331507
GAexonicBoth parentsnonsynonymous SNVNM_001159694
NM_016242
c.C718T
c.C757T
p.H240Y
p.H253Y
18.461.0E-4Tuncay2023 G
TTC6     MCD-022-3chr14:
38310794-38310794
TCexonicBoth parentsnonsynonymous SNVNM_001310135c.T5491Cp.W1831R13.280.0025Tuncay2023 G
CDH23     MCD-022-3chr10:
73485206-73485206
CTexonicBoth parentsnonsynonymous SNVNM_001171930
NM_022124
c.C3508T
c.C3508T
p.R1170W
p.R1170W
19.662.0E-4Tuncay2023 G
TNS4     MCD-024-3chr17:
38652256-38652256
TCexonicBoth parentsnonsynonymous SNVNM_032865c.A422Gp.E141G14.76-Tuncay2023 G
RNF224     MCD-023-3chr9:
140123224-140123224
CTexonicBoth parentsnonsynonymous SNVNM_001190228c.C157Tp.R53W14.01-Tuncay2023 G
PRDM16     MC-035-3chr1:
3329057-3329057
GAexonicPaternalnonsynonymous SNVNM_022114
NM_199454
c.G2296A
c.G2296A
p.G766S
p.G766S
1.1683.0E-4Tuncay2023 G
XKR3     MCD-033-4chr22:
17265194-17265194
GAexonicBoth parentsnonsynonymous SNVNM_175878c.C695Tp.P232L9.39-Tuncay2023 G
CD109     MCD-001-3chr6:
74530190-74530190
TGexonicPaternalnonsynonymous SNVNM_001159588
NM_001159587
NM_133493
c.T3834G
c.T4014G
c.T4065G
p.N1278K
p.N1338K
p.N1355K
15.97-Tuncay2023 G
ABCG8     MC-035-3chr2:
44073312-44073312
GTexonicPaternalnonsynonymous SNVNM_022437c.G184Tp.V62F12.261.648E-5Tuncay2023 G
XKR3     MCD-033-3chr22:
17265194-17265194
GAexonicBoth parentsnonsynonymous SNVNM_175878c.C695Tp.P232L9.39-Tuncay2023 G
MAPK6     MCD-030-3chr15:
52356988-52356988
GCexonicBoth parentsnonsynonymous SNVNM_002748c.G1957Cp.G653R12.688.248E-6Tuncay2023 G
PARP4     MCD-033-4chr13:
25030615-25030615
CAexonicBoth parentsnonsynonymous SNVNM_006437c.G2426Tp.R809L11.643.0E-4Tuncay2023 G
PER2     MCD-033-4chr2:
239186400-239186400
CTexonicBoth parentsnonsynonymous SNVNM_022817c.G178Ap.D60N12.47-Tuncay2023 G
MUC16     MCD-003-3chr19:
9061368-9061368
GAexonicPaternalnonsynonymous SNVNM_024690c.C26078Tp.A8693V7.299-Tuncay2023 G
MUC16     MCD-003-3chr19:
9049685-9049685
ATexonicPaternalnonsynonymous SNVNM_024690c.T31946Ap.L10649Q4.096-Tuncay2023 G
GAA     MCD-005-3chr17:
78083769-78083769
CGexonicPaternalnonsynonymous SNVNM_000152
NM_001079804
NM_001079803
c.C1352G
c.C1352G
c.C1352G
p.P451R
p.P451R
p.P451R
13.824.0E-4Tuncay2023 G
SULT1C2     MCD-004-5chr2:
108924874-108924874
GCexonicPaternalnonsynonymous SNVNM_001056
NM_176825
c.G845C
c.G878C
p.R282T
p.R293T
8.6778.279E-5Tuncay2023 G
EIF4G3     MCD-001-4chr1:
21268634-21268634
GAexonicPaternalnonsynonymous SNVNM_003760
NM_001198801
NM_001198802
NM_001198803
c.C845T
c.C842T
c.C863T
c.C878T
p.P282L
p.P281L
p.P288L
p.P293L
11.11-Tuncay2023 G
UTRN     MCD-001-3chr6:
144832168-144832168
GCexonicPaternalnonsynonymous SNVNM_007124c.G4853Cp.S1618T15.07-Tuncay2023 G
POTEJ     MCD-001-4chr2:
131414290-131414290
CAexonicPaternalnonsynonymous SNVNM_001277083c.C1957Ap.L653I8.318-Tuncay2023 G
MLST8     MCD-001-4chr16:
2258781-2258781
GAexonicPaternalnonsynonymous SNVNM_001199173
NM_001199174
NM_001199175
NM_022372
c.G884A
c.G884A
c.G881A
c.G884A
p.R295Q
p.R295Q
p.R294Q
p.R295Q
33.08.288E-6Tuncay2023 G
MEPE     MCD-007-3chr4:
88767233-88767233
GCexonicPaternalnonsynonymous SNVNM_001184694
NM_001291183
NM_020203
NM_001184695
NM_001184696
NM_001184697
c.G1213C
c.G1306C
c.G1213C
c.G874C
c.G874C
c.G874C
p.G405R
p.G436R
p.G405R
p.G292R
p.G292R
p.G292R
12.391.0E-4Tuncay2023 G
GAA     MCD-007-3chr17:
78081608-78081608
AGexonicPaternalnonsynonymous SNVNM_000152
NM_001079804
NM_001079803
c.A868G
c.A868G
c.A868G
p.N290D
p.N290D
p.N290D
20.79.265E-6Tuncay2023 G
RIOX2     MCD-010-3chr3:
97686151-97686151
TCexonicPaternalnonsynonymous SNVNM_001042533
NM_001261829
NM_032778
NM_153182
c.A287G
c.A287G
c.A287G
c.A287G
p.Y96C
p.Y96C
p.Y96C
p.Y96C
17.221.647E-5Tuncay2023 G
PLEKHN1     MCD-007-3chr1:
906538-906538
GAexonicPaternalnonsynonymous SNVNM_001160184
NM_032129
c.G694A
c.G658A
p.G232S
p.G220S
11.16.431E-5Tuncay2023 G
FAT3     MCD-005-3chr11:
92577302-92577302
CTexonicPaternalnonsynonymous SNVNM_001008781c.C10769Tp.S3590L13.88-Tuncay2023 G
TTN     MCD-005-3chr2:
179398537-179398537
CGexonicPaternalnonsynonymous SNVNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550
c.G75610C
c.G75985C
c.G76186C
c.G95101C
c.G97882C
c.G102805C
p.A25204P
p.A25329P
p.A25396P
p.A31701P
p.A32628P
p.A34269P
15.61-Tuncay2023 G
ZSCAN20     MCD-005-3chr1:
33960856-33960856
GAexonicPaternalnonsynonymous SNVNM_145238c.G2912Ap.R971H10.612.505E-5Tuncay2023 G
GPR132     MCD-005-3chr14:
105518174-105518174
GCexonicPaternalnonsynonymous SNVNM_001278695
NM_013345
NM_001278694
c.C273G
c.C300G
c.C300G
p.I91M
p.I100M
p.I100M
9.992-Tuncay2023 G
CSMD1     MCD-015-3chr8:
3087702-3087702
CTexonicPaternalnonsynonymous SNVNM_033225c.G4205Ap.R1402H33.0-Tuncay2023 G
CRELD2     MCD-015-3chr22:
50315388-50315388
GAexonicPaternalnonsynonymous SNVNM_001135101
NM_001284317
NM_001284318
NM_024324
c.G571A
c.G571A
c.G571A
c.G571A
p.E191K
p.E191K
p.E191K
p.E191K
17.491.0E-4Tuncay2023 G
CACNA1C     MCD-016-3chr12:
2794928-2794928
GAexonicPaternalnonsynonymous SNVNM_001129837
NM_001129838
NM_001129839
NM_001129846
NM_000719
NM_001129829
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001167623
NM_001167625
NM_001129830
NM_001129831
NM_001129832
NM_001167624
NM_001129827
NM_199460
c.G5624A
c.G5624A
c.G5618A
c.G5567A
c.G5600A
c.G5723A
c.G5657A
c.G5657A
c.G5657A
c.G5651A
c.G5600A
c.G5600A
c.G5600A
c.G5600A
c.G5591A
c.G5600A
c.G5780A
c.G5705A
c.G5684A
c.G5660A
c.G5705A
c.G5744A
c.G5849A
p.R1875Q
p.R1875Q
p.R1873Q
p.R1856Q
p.R1867Q
p.R1908Q
p.R1886Q
p.R1886Q
p.R1886Q
p.R1884Q
p.R1867Q
p.R1867Q
p.R1867Q
p.R1867Q
p.R1864Q
p.R1867Q
p.R1927Q
p.R1902Q
p.R1895Q
p.R1887Q
p.R1902Q
p.R1915Q
p.R1950Q
14.742.491E-5Tuncay2023 G
PCM1     MCD-015-3chr8:
17815232-17815232
TCexonicPaternalnonsynonymous SNVNM_001315507
NM_001315508
NM_006197
c.T1988C
c.T1991C
c.T1988C
p.M663T
p.M664T
p.M663T
13.631.756E-5Tuncay2023 G
COL12A1     MCD-013-3chr6:
75893146-75893146
AGexonicPaternalnonsynonymous SNVNM_004370c.T1511Cp.I504T20.2-Tuncay2023 G
TTN     MCD-011-3chr2:
179455440-179455440
CTexonicPaternalnonsynonymous SNVNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550
c.G33817A
c.G34192A
c.G34393A
c.G53308A
c.G56089A
c.G61012A
p.G11273R
p.G11398R
p.G11465R
p.G17770R
p.G18697R
p.G20338R
13.7-Tuncay2023 G
RNF111     MCD-013-3chr15:
59373446-59373446
AGexonicPaternalnonsynonymous SNVNM_001270528
NM_001270529
NM_001270530
NM_017610
c.A2260G
c.A2257G
c.A2260G
c.A2260G
p.M754V
p.M753V
p.M754V
p.M754V
14.387.42E-5Tuncay2023 G
FSIP2     MCD-013-3chr2:
186655206-186655206
ACexonicPaternalnonsynonymous SNVNM_173651c.A3610Cp.K1204Q8.856-Tuncay2023 G
USH2A     MCD-018-3chr1:
215933087-215933087
GTexonicPaternalnonsynonymous SNVNM_206933c.C11146Ap.Q3716K8.3428.241E-6Tuncay2023 G
ZZEF1     MCD-017-3chr17:
3967997-3967997
CTexonicPaternalnonsynonymous SNVNM_015113c.G4376Ap.R1459H13.493.0E-4Tuncay2023 G
MOV10L1     MCD-018-3chr22:
50546622-50546622
CTexonicPaternalnonsynonymous SNVNM_001164104
NM_001164105
NM_018995
c.C500T
c.C440T
c.C500T
p.T167M
p.T147M
p.T167M
14.772.0E-4Tuncay2023 G
ANKRD31     MCD-018-3chr5:
74364457-74364457
GAexonicPaternalnonsynonymous SNVNM_001164443c.C5509Tp.R1837C12.77-Tuncay2023 G
LMO7     MCD-016-3chr13:
76414552-76414552
CTexonicPaternalnonsynonymous SNVNM_015842
NM_005358
NM_001306080
c.C2804T
c.C2657T
c.C3503T
p.P935L
p.P886L
p.P1168L
35.08.301E-6Tuncay2023 G
AKNA     MCD-016-3chr9:
117118301-117118301
GAexonicPaternalnonsynonymous SNVNM_030767c.C2962Tp.R988W13.268.238E-6Tuncay2023 G
TTC3     MCD-017-3chr21:
38568183-38568183
CTexonicPaternalnonsynonymous SNVNM_001001894
NM_003316
c.C5425T
c.C5425T
p.R1809W
p.R1809W
15.323.0E-4Tuncay2023 G
ADGRV1     MCD-017-3chr5:
89949452-89949452
ATexonicPaternalnonsynonymous SNVNM_032119c.A4061Tp.N1354I18.221.716E-5Tuncay2023 G
ANO2     MCD-020-4chr12:
5672520-5672520
CTexonicPaternalnonsynonymous SNVNM_001278596
NM_001278597
c.G2957A
c.G2945A
p.G986D
p.G982D
12.342.459E-5Tuncay2023 G
ZNF407     MCD-019-3chr18:
72775399-72775399
GAexonicPaternalnonsynonymous SNVNM_017757c.G5722Ap.D1908N19.31-Tuncay2023 G
DISP1     MCD-022-3chr1:
223178349-223178349
GAexonicPaternalnonsynonymous SNVNM_032890c.G3610Ap.A1204T8.081-Tuncay2023 G
MYOM2     MCD-020-4chr8:
2005820-2005820
GAexonicPaternalnonsynonymous SNVNM_003970c.G482Ap.R161Q33.02.48E-5Tuncay2023 G
PIKFYVE     MCD-019-3chr2:
209210794-209210794
AGexonicPaternalnonsynonymous SNVNM_015040c.A5132Gp.K1711R16.28-Tuncay2023 G
RAD9B     MCD-018-3chr12:
110943480-110943480
CTexonicPaternalnonsynonymous SNVNM_001286535
NM_001286536
NM_152442
c.C176T
c.C176T
c.C176T
p.P59L
p.P59L
p.P59L
24.92.0E-4Tuncay2023 G
TTN     MCD-019-3chr2:
179480433-179480433
CTexonicPaternalnonsynonymous SNVNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550
c.G21200A
c.G21575A
c.G21776A
c.G40691A
c.G43472A
c.G48395A
p.R7067H
p.R7192H
p.R7259H
p.R13564H
p.R14491H
p.R16132H
14.466.64E-5Tuncay2023 G
DCC     MCD-019-3chr18:
51013227-51013227
CTexonicPaternalnonsynonymous SNVNM_005215c.C3797Tp.P1266L16.17-Tuncay2023 G
FLG     MCD-024-3 Complex Event; expand row to view variants  Paternalframeshift deletionNM_002016
NM_002016
c.3381_3385del
c.3387delT
p.S1127fs
p.S1129fs
-8.238E-6Tuncay2023 G
Tuncay2023 G
CFAP65     MCD-023-3chr2:
219892344-219892344
AGexonicPaternalnonsynonymous SNVNM_001278296
NM_001278295
c.T2044C
c.T2206C
p.C682R
p.C736R
11.568.527E-5Tuncay2023 G
STAB1     MCD-024-3chr3:
52555908-52555908
GAexonicPaternalnonsynonymous SNVNM_015136c.G6212Ap.R2071H14.911.731E-5Tuncay2023 G
FAT1     MCD-024-3chr4:
187538263-187538263
TAexonicPaternalnonsynonymous SNVNM_005245c.A8971Tp.N2991Y1.859-Tuncay2023 G
TMEM173     MCD-022-3chr5:
138857917-138857917
CTexonicPaternalnonsynonymous SNVNM_001301738
NM_198282
c.G697A
c.G697A
p.A233T
p.A233T
19.088.237E-6Tuncay2023 G
MYO3B     MCD-022-3chr2:
171355116-171355116
CAexonicPaternalnonsynonymous SNVNM_001083615
NM_138995
c.C3029A
c.C3029A
p.A1010E
p.A1010E
29.41.657E-5Tuncay2023 G
MYO5B     MCD-023-3chr18:
47352855-47352855
GAexonicPaternalnonsynonymous SNVNM_001080467c.C5533Tp.L1845F26.83.321E-5Tuncay2023 G
ZNF418     MCD-022-3chr19:
58439032-58439032
CGexonicPaternalnonsynonymous SNVNM_001317030
NM_133460
NM_001317027
NM_001317028
NM_001317029
c.G262C
c.G517C
c.G580C
c.G520C
c.G517C
p.G88R
p.G173R
p.G194R
p.G174R
p.G173R
9.203-Tuncay2023 G
TTN     MCD-025-3chr2:
179641415-179641415
GCexonicPaternalnonsynonymous SNVNM_003319
NM_133432
NM_133437
NM_001256850
NM_001267550
NM_133378
NM_133379
c.C5038G
c.C5038G
c.C5038G
c.C5176G
c.C5176G
c.C5176G
c.C5176G
p.L1680V
p.L1680V
p.L1680V
p.L1726V
p.L1726V
p.L1726V
p.L1726V
10.66-Tuncay2023 G
TTN     MCD-025-3chr2:
179639009-179639009
CTexonicPaternalnonsynonymous SNVNM_003319
NM_133432
NM_133437
NM_001256850
NM_001267550
NM_133378
NM_133379
c.G6844A
c.G6844A
c.G6844A
c.G6982A
c.G6982A
c.G6982A
c.G6982A
p.V2282I
p.V2282I
p.V2282I
p.V2328I
p.V2328I
p.V2328I
p.V2328I
13.46-Tuncay2023 G
OR8K1     MCD-025-3chr11:
56114153-56114153
GCexonicPaternalnonsynonymous SNVNM_001002907c.G639Cp.L213F9.6793.0E-4Tuncay2023 G
MYOM3     MCD-025-3chr1:
24389694-24389694
CTexonicPaternalnonsynonymous SNVNM_152372c.G3692Ap.G1231E17.392.0E-4Tuncay2023 G
TTN     MCD-025-3chr2:
179426476-179426476
CTexonicPaternalnonsynonymous SNVNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550
c.G57188A
c.G57563A
c.G57764A
c.G76679A
c.G79460A
c.G84383A
p.R19063H
p.R19188H
p.R19255H
p.R25560H
p.R26487H
p.R28128H
16.53-Tuncay2023 G
UNC13C     MCD-024-3chr15:
54792341-54792341
CTexonicPaternalnonsynonymous SNVNM_001080534c.C5125Tp.H1709Y15.429.246E-6Tuncay2023 G
TTN     MCD-025-3chr2:
179635947-179635947
TCexonicPaternalnonsynonymous SNVNM_003319
NM_133432
NM_133437
NM_001256850
NM_001267550
NM_133378
NM_133379
c.A7969G
c.A7969G
c.A7969G
c.A8107G
c.A8107G
c.A8107G
c.A8107G
p.K2657E
p.K2657E
p.K2657E
p.K2703E
p.K2703E
p.K2703E
p.K2703E
13.9-Tuncay2023 G
TTN     MCD-025-3chr2:
179593870-179593870
CGexonicPaternalnonsynonymous SNVNM_133378
NM_001256850
NM_001267550
c.G15163C
c.G17944C
c.G18895C
p.E5055Q
p.E5982Q
p.E6299Q
15.36-Tuncay2023 G
RALGAPA2     MCD-028-3chr20:
20493587-20493587
CAexonicPaternalnonsynonymous SNVNM_020343c.G4426Tp.V1476F12.44-Tuncay2023 G
MUC17     MCD-028-3chr7:
100682271-100682271
CGexonicPaternalnonsynonymous SNVNM_001040105c.C7574Gp.T2525R3.942-Tuncay2023 G
CEP112     MCD-032-4chr17:
63898448-63898448
AGexonicPaternalnonsynonymous SNVNM_001302891
NM_001199165
c.T1859C
c.T1985C
p.V620A
p.V662A
10.674.0E-4Tuncay2023 G
ACTN3     MCD-032-4chr11:
66325510-66325510
GAexonicPaternalunknown-2.0E-4Tuncay2023 G
ITGA11     MCD-027-3chr15:
68609616-68609616
CTexonicPaternalnonsynonymous SNVNM_001004439c.G2702Ap.R901Q9.3368.281E-5Tuncay2023 G
PPP6R1     MCD-026-3chr19:
55748036-55748036
GAexonicPaternalnonsynonymous SNVNM_014931c.C1963Tp.R655C10.191.0E-4Tuncay2023 G
AHNAK2     MCD-028-3chr14:
105414461-105414461
CGexonicPaternalnonsynonymous SNVNM_138420c.G7327Cp.E2443Q8.7672.0E-4Tuncay2023 G
MYO1A     MCD-027-3chr12:
57430769-57430769
CTexonicPaternalnonsynonymous SNVNM_005379
NM_001256041
c.G2162A
c.G2162A
p.R721Q
p.R721Q
25.32.471E-5Tuncay2023 G
CTDSP2     MCD-033-3chr12:
58220823-58220823
CTexonicPaternalnonsynonymous SNVNM_005730c.G310Ap.V104M15.43-Tuncay2023 G
AKAP6     MCD-033-3chr14:
33290621-33290621
TCexonicPaternalnonsynonymous SNVNM_004274c.T3602Cp.V1201A16.363.486E-5Tuncay2023 G
FRG2C     MCD-033-3chr3:
75713561-75713561
CTexonicPaternalnonsynonymous SNVNM_001124759c.C31Tp.H11Y8.689-Tuncay2023 G
CTDSP2     MCD-033-3chr12:
58220841-58220841
CTexonicPaternalnonsynonymous SNVNM_005730c.G292Ap.D98N34.0-Tuncay2023 G
C2orf16     MCD-032-4 Complex Event; expand row to view variants  Paternalnonsynonymous SNVNM_032266
NM_032266
c.A173C
c.G174C
p.Q58P
p.Q58H
13.078.29E-6Tuncay2023 G
Tuncay2023 G
XDH     MCD-032-4chr2:
31562365-31562365
TAexonicPaternalnonsynonymous SNVNM_000379c.A3764Tp.Y1255F14.872.0E-4Tuncay2023 G
CEP152     MCD-033-3chr15:
49059572-49059572
GCexonicPaternalnonsynonymous SNVNM_001194998
NM_014985
c.C2107G
c.C2107G
p.Q703E
p.Q703E
15.63-Tuncay2023 G
UNC93B1     MCD-033-3chr11:
67761177-67761177
GAexonicPaternalunknown-6.919E-5Tuncay2023 G
ZNF717     MCD-033-3chr3:
75786518-75786518
ACexonicPaternalnonsynonymous SNVNM_001128223
NM_001290208
NM_001290209
c.T2256G
c.T2256G
c.T2106G
p.H752Q
p.H752Q
p.H702Q
14.69-Tuncay2023 G
ZNF717     MCD-033-3chr3:
75786501-75786501
TAexonicPaternalnonsynonymous SNVNM_001128223
NM_001290208
NM_001290209
c.A2273T
c.A2273T
c.A2123T
p.Y758F
p.Y758F
p.Y708F
6.645-Tuncay2023 G
ZNF717     MCD-033-3chr3:
75787726-75787726
GAexonicPaternalnonsynonymous SNVNM_001128223
NM_001290208
NM_001290209
c.C1048T
c.C1048T
c.C898T
p.R350C
p.R350C
p.R300C
9.535-Tuncay2023 G
ZNF717     MCD-033-3chr3:
75786827-75786827
ATexonicPaternalstopgainNM_001128223
NM_001290208
NM_001290209
c.T1947A
c.T1947A
c.T1797A
p.C649X
p.C649X
p.C599X
37.0-Tuncay2023 G
ZNF717     MCD-033-3chr3:
75786278-75786278
ACexonicPaternalnonsynonymous SNVNM_001128223
NM_001290208
NM_001290209
c.T2496G
c.T2496G
c.T2346G
p.H832Q
p.H832Q
p.H782Q
9.956-Tuncay2023 G
ZNF717     MCD-033-3chr3:
75786261-75786261
CTexonicPaternalnonsynonymous SNVNM_001128223
NM_001290208
NM_001290209
c.G2513A
c.G2513A
c.G2363A
p.G838E
p.G838E
p.G788E
14.84-Tuncay2023 G
ZNF717     MCD-033-3chr3:
75786490-75786490
CGexonicPaternalnonsynonymous SNVNM_001128223
NM_001290208
NM_001290209
c.G2284C
c.G2284C
c.G2134C
p.E762Q
p.E762Q
p.E712Q
0.022-Tuncay2023 G
ZNF717     MCD-033-3chr3:
75786417-75786417
TCexonicPaternalnonsynonymous SNVNM_001128223
NM_001290208
NM_001290209
c.A2357G
c.A2357G
c.A2207G
p.Y786C
p.Y786C
p.Y736C
13.34-Tuncay2023 G
ZNF717     MCD-033-4chr3:
75786243-75786243
CTexonicPaternalnonsynonymous SNVNM_001128223
NM_001290208
NM_001290209
c.G2531A
c.G2531A
c.G2381A
p.C844Y
p.C844Y
p.C794Y
13.4-Tuncay2023 G
SLC12A9     MCD-033-4chr7:
100462935-100462935
TCexonicPaternalnonsynonymous SNVNM_001267812c.T1885Cp.F629L12.212.0E-4Tuncay2023 G
ZNF717     MCD-033-4chr3:
75786261-75786261
CTexonicPaternalnonsynonymous SNVNM_001128223
NM_001290208
NM_001290209
c.G2513A
c.G2513A
c.G2363A
p.G838E
p.G838E
p.G788E
14.84-Tuncay2023 G
ZNF717     MCD-033-4chr3:
75786256-75786256
TAexonicPaternalstopgainNM_001128223
NM_001290208
NM_001290209
c.A2518T
c.A2518T
c.A2368T
p.K840X
p.K840X
p.K790X
37.0-Tuncay2023 G
COL19A1     MCD-033-4chr6:
70866229-70866229
CAexonicPaternalnonsynonymous SNVNM_001858c.C2206Ap.P736T13.313.0E-4Tuncay2023 G
COL19A1     MCD-033-4chr6:
70852699-70852699
CTexonicPaternalnonsynonymous SNVNM_001858c.C1613Tp.P538L10.053.0E-4Tuncay2023 G
CTDSP2     MCD-033-4chr12:
58220841-58220841
CTexonicPaternalnonsynonymous SNVNM_005730c.G292Ap.D98N34.0-Tuncay2023 G
CTDSP2     MCD-033-4chr12:
58220823-58220823
CTexonicPaternalnonsynonymous SNVNM_005730c.G310Ap.V104M15.43-Tuncay2023 G
ZNF717     MCD-033-4chr3:
75787726-75787726
GAexonicPaternalnonsynonymous SNVNM_001128223
NM_001290208
NM_001290209
c.C1048T
c.C1048T
c.C898T
p.R350C
p.R350C
p.R300C
9.535-Tuncay2023 G
ZNF717     MCD-033-4chr3:
75786501-75786501
TAexonicPaternalnonsynonymous SNVNM_001128223
NM_001290208
NM_001290209
c.A2273T
c.A2273T
c.A2123T
p.Y758F
p.Y758F
p.Y708F
6.645-Tuncay2023 G
ZNF717     MCD-033-4chr3:
75790836-75790838
GCCGexonicPaternalframeshift deletionNM_001128223
NM_001290208
NM_001290210
c.107_108del
c.107_108del
c.107_108del
p.W36fs
p.W36fs
p.W36fs
--Tuncay2023 G
ZNF717     MCD-033-4chr3:
75790791-75790791
GCexonicPaternalnonsynonymous SNVNM_001128223
NM_001290208
NM_001290209
NM_001290210
c.C154G
c.C154G
c.C4G
c.C154G
p.L52V
p.L52V
p.L2V
p.L52V
12.62-Tuncay2023 G
ZNF717     MCD-033-4chr3:
75786288-75786288
AGexonicPaternalnonsynonymous SNVNM_001128223
NM_001290208
NM_001290209
c.T2486C
c.T2486C
c.T2336C
p.L829P
p.L829P
p.L779P
12.68-Tuncay2023 G
ZNF717     MCD-033-4chr3:
75786278-75786278
ACexonicPaternalnonsynonymous SNVNM_001128223
NM_001290208
NM_001290209
c.T2496G
c.T2496G
c.T2346G
p.H832Q
p.H832Q
p.H782Q
9.956-Tuncay2023 G
ZNF717     MCD-033-4chr3:
75786490-75786490
CGexonicPaternalnonsynonymous SNVNM_001128223
NM_001290208
NM_001290209
c.G2284C
c.G2284C
c.G2134C
p.E762Q
p.E762Q
p.E712Q
0.022-Tuncay2023 G
ZNF717     MCD-033-4chr3:
75786337-75786337
GAexonicPaternalnonsynonymous SNVNM_001128223
NM_001290208
NM_001290209
c.C2437T
c.C2437T
c.C2287T
p.P813S
p.P813S
p.P763S
13.09-Tuncay2023 G
CTAG2     MCD-001-3chrX:
153880477-153880477
AGexonicMaternalnonsynonymous SNVNM_172377c.T469Cp.S157P15.133.0E-4Tuncay2023 G
UTRN     MCD-001-3chr6:
144747588-144747588
CGexonicMaternalnonsynonymous SNVNM_007124c.C571Gp.R191G16.081.0E-4Tuncay2023 G
MLST8     MCD-001-4chr16:
2257041-2257041
GAexonicMaternalnonsynonymous SNVNM_001199173
NM_001199174
NM_001199175
NM_022372
c.G350A
c.G350A
c.G347A
c.G350A
p.R117Q
p.R117Q
p.R116Q
p.R117Q
21.01.0E-4Tuncay2023 G
EIF4G3     MCD-001-4chr1:
21231460-21231460
TGexonicMaternalnonsynonymous SNVNM_003760
NM_001198801
NM_001198802
c.A1500C
c.A1497C
c.A1518C
p.Q500H
p.Q499H
p.Q506H
17.34.0E-4Tuncay2023 G
ABCG8     MC-035-3chr2:
44099244-44099244
CTexonicMaternalnonsynonymous SNVNM_022437c.C1094Tp.T365M11.355.0E-4Tuncay2023 G
PRDM16     MC-035-3chr1:
3331149-3331149
GTexonicMaternalnonsynonymous SNVNM_022114
NM_199454
c.G2629T
c.G2629T
p.D877Y
p.D877Y
18.028.613E-6Tuncay2023 G
CD109     MCD-001-3chr6:
74495175-74495175
TCexonicMaternalnonsynonymous SNVNM_001159588
NM_001159587
NM_133493
c.T2081C
c.T2312C
c.T2312C
p.F694S
p.F771S
p.F771S
19.494.0E-4Tuncay2023 G
SHROOM2     MC-035-3chrX:
9863880-9863880
CGexonicMaternalnonsynonymous SNVNM_001649c.C1932Gp.S644R12.99-Tuncay2023 G
GABRQ     MCD-003-3chrX:
151815582-151815582
TAexonicMaternalnonsynonymous SNVNM_018558c.T480Ap.N160K12.2-Tuncay2023 G
MUC16     MCD-003-3chr19:
8997119-8997119
TCexonicMaternalnonsynonymous SNVNM_024690c.A41077Gp.R13693G15.613.0E-4Tuncay2023 G
SULT1C2     MCD-004-5chr2:
108910151-108910151
CTexonicMaternalstopgainNM_001056
NM_176825
c.C28T
c.C28T
p.Q10X
p.Q10X
19.191.653E-5Tuncay2023 G
MAOA     MCD-004-5chrX:
43590552-43590552
ATexonicMaternalnonsynonymous SNVNM_000240
NM_001270458
c.A710T
c.A311T
p.Q237L
p.Q104L
10.37-Tuncay2023 G
RBMX     MCD-002-3chrX:
135960149-135960149
GAexonicMaternalnonsynonymous SNVNM_002139c.C313Tp.P105S16.86-Tuncay2023 G
POTEJ     MCD-001-4chr2:
131414354-131414355
ACAexonicMaternalframeshift deletionNM_001277083c.2022delCp.D674fs-2.367E-5Tuncay2023 G
IDH3G     MCD-002-3chrX:
153051601-153051611
GGGCTACAGGAGexonicMaternalframeshift deletionNM_174869c.1136_1340delp.L379fs-1.0E-4Tuncay2023 G
AMOT     MCD-002-3chrX:
112022894-112022894
CTexonicMaternalnonsynonymous SNVNM_001113490
NM_133265
c.G2488A
c.G1261A
p.G830R
p.G421R
14.277.0E-4Tuncay2023 G
ZSCAN20     MCD-005-3chr1:
33954237-33954237
CTexonicMaternalnonsynonymous SNVNM_145238c.C590Tp.P197L7.9961.668E-5Tuncay2023 G
GPR132     MCD-005-3chr14:
105517675-105517675
CTexonicMaternalnonsynonymous SNVNM_001278696
NM_001278695
NM_013345
NM_001278694
c.G235A
c.G772A
c.G799A
c.G799A
p.A79T
p.A258T
p.A267T
p.A267T
11.190.0022Tuncay2023 G
GAA     MCD-007-3chr17:
78086394-78086394
GAexonicMaternalnonsynonymous SNVNM_000152
NM_001079804
NM_001079803
c.G1772A
c.G1772A
c.G1772A
p.R591Q
p.R591Q
p.R591Q
11.584.331E-5Tuncay2023 G
ZNF41     MCD-005-3chrX:
47307907-47307907
GTexonicMaternalnonsynonymous SNVNM_007130
NM_153380
c.C1262A
c.C1262A
p.T421K
p.T421K
13.65-Tuncay2023 G
GAA     MCD-005-3chr17:
78078662-78078662
GAexonicMaternalnonsynonymous SNVNM_000152
NM_001079804
NM_001079803
c.G277A
c.G277A
c.G277A
p.A93T
p.A93T
p.A93T
16.721.0E-4Tuncay2023 G
YIPF6     MCD-004-5chrX:
67731809-67731809
GAexonicMaternalnonsynonymous SNVNM_173834c.G176Ap.R59H19.61.162E-5Tuncay2023 G
FAT3     MCD-005-3chr11:
92533549-92533549
GAexonicMaternalnonsynonymous SNVNM_001008781c.G7370Ap.R2457Q16.312.0E-4Tuncay2023 G
TTN     MCD-005-3chr2:
179410255-179410255
TCexonicMaternalnonsynonymous SNVNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550
c.A68387G
c.A68762G
c.A68963G
c.A87878G
c.A90659G
c.A95582G
p.Y22796C
p.Y22921C
p.Y22988C
p.Y29293C
p.Y30220C
p.Y31861C
10.53.0E-4Tuncay2023 G
COL12A1     MCD-013-3chr6:
75838134-75838134
AGexonicMaternalnonsynonymous SNVNM_080645
NM_004370
c.T2726C
c.T6218C
p.V909A
p.V2073A
24.8-Tuncay2023 G
GPRASP1     MCD-011-3chrX:
101909395-101909395
AGexonicMaternalnonsynonymous SNVNM_001099411
NM_001099410
NM_014710
NM_001184727
c.A554G
c.A554G
c.A554G
c.A554G
p.E185G
p.E185G
p.E185G
p.E185G
10.961.146E-5Tuncay2023 G
FSIP2     MCD-013-3chr2:
186656084-186656084
ATexonicMaternalnonsynonymous SNVNM_173651c.A4488Tp.K1496N8.513-Tuncay2023 G
ATP7A     MCD-013-3chrX:
77245178-77245178
ATexonicMaternalnonsynonymous SNVNM_000052
NM_001282224
c.A1060T
c.A1060T
p.T354S
p.T354S
0.011-Tuncay2023 G
PLEKHN1     MCD-007-3chr1:
909315-909315
GAexonicMaternalnonsynonymous SNVNM_001160184
NM_032129
c.G1432A
c.G1537A
p.G478S
p.G513S
2.8312.693E-5Tuncay2023 G
MEPE     MCD-007-3chr4:
88766693-88766693
CTexonicMaternalnonsynonymous SNVNM_001184694
NM_001291183
NM_020203
NM_001184695
NM_001184696
NM_001184697
c.C673T
c.C766T
c.C673T
c.C334T
c.C334T
c.C334T
p.H225Y
p.H256Y
p.H225Y
p.H112Y
p.H112Y
p.H112Y
16.411.661E-5Tuncay2023 G
TTN     MCD-011-3chr2:
179437468-179437468
CTexonicMaternalnonsynonymous SNVNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550
c.G46196A
c.G46571A
c.G46772A
c.G65687A
c.G68468A
c.G73391A
p.R15399Q
p.R15524Q
p.R15591Q
p.R21896Q
p.R22823Q
p.R24464Q
14.873.318E-5Tuncay2023 G
RIOX2     MCD-010-3chr3:
97677992-97677992
TCexonicMaternalnonsynonymous SNVNM_001042533
NM_001261829
NM_032778
NM_153182
c.A584G
c.A584G
c.A584G
c.A584G
p.H195R
p.H195R
p.H195R
p.H195R
5.6494.0E-4Tuncay2023 G
PCM1     MCD-015-3chr8:
17830089-17830089
CGexonicMaternalnonsynonymous SNVNM_001315507
NM_001315508
NM_006197
c.C3836G
c.C3839G
c.C3836G
p.T1279R
p.T1280R
p.T1279R
20.94.162E-5Tuncay2023 G
CSMD1     MCD-015-3chr8:
2886901-2886901
GAexonicMaternalnonsynonymous SNVNM_033225c.C7795Tp.L2599F4.9238.667E-6Tuncay2023 G
AKNA     MCD-016-3chr9:
117103867-117103867
GAexonicMaternalnonsynonymous SNVNM_030767c.C4013Tp.P1338L17.438.247E-6Tuncay2023 G
CACNA1C     MCD-016-3chr12:
2797853-2797853
CTexonicMaternalnonsynonymous SNVNM_001129837
NM_001129838
NM_001129839
NM_001129846
NM_000719
NM_001129829
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001167623
NM_001167625
NM_001129830
NM_001129831
NM_001129832
NM_001167624
NM_001129827
NM_199460
c.C6049T
c.C6049T
c.C6043T
c.C5992T
c.C6025T
c.C6148T
c.C6082T
c.C6082T
c.C6082T
c.C6076T
c.C6025T
c.C6025T
c.C6025T
c.C6025T
c.C6016T
c.C6025T
c.C6205T
c.C6130T
c.C6109T
c.C6085T
c.C6130T
c.C6169T
c.C6274T
p.R2017W
p.R2017W
p.R2015W
p.R1998W
p.R2009W
p.R2050W
p.R2028W
p.R2028W
p.R2028W
p.R2026W
p.R2009W
p.R2009W
p.R2009W
p.R2009W
p.R2006W
p.R2009W
p.R2069W
p.R2044W
p.R2037W
p.R2029W
p.R2044W
p.R2057W
p.R2092W
13.01-Tuncay2023 G
TRO     MCD-013-3chrX:
54955327-54955327
AGexonicMaternalnonsynonymous SNVNM_001271183
NM_001271184
NM_001039705
c.A763G
c.A979G
c.A2170G
p.S255G
p.S327G
p.S724G
2.0762.508E-5Tuncay2023 G
RNF111     MCD-013-3chr15:
59359263-59359263
GCexonicMaternalnonsynonymous SNVNM_001270528
NM_001270529
NM_001270530
NM_017610
c.G1667C
c.G1667C
c.G1667C
c.G1667C
p.G556A
p.G556A
p.G556A
p.G556A
12.44-Tuncay2023 G
CRELD2     MCD-015-3chr22:
50315966-50315966
CGexonicMaternalnonsynonymous SNVNM_001135101c.C614Gp.S205C10.329.413E-5Tuncay2023 G
PHKA1     MCD-015-3chrX:
71873343-71873343
AGexonicMaternalnonsynonymous SNVNM_001122670
NM_001172436
NM_002637
c.T1079C
c.T1079C
c.T1079C
p.I360T
p.I360T
p.I360T
21.4-Tuncay2023 G
GLUD2     MCD-017-3chrX:
120182860-120182862
AGTAexonicMaternalframeshift deletionNM_012084c.1323_1324delp.E441fs--Tuncay2023 G
PRICKLE3     MCD-017-3chrX:
49032048-49032048
GCexonicMaternalnonsynonymous SNVNM_001307979
NM_006150
c.C1618G
c.C1822G
p.R540G
p.R608G
8.9548.442E-5Tuncay2023 G
ADGRV1     MCD-017-3chr5:
90368293-90368293
TCexonicMaternalnonsynonymous SNVNM_032119c.T18182Cp.L6061S18.99-Tuncay2023 G
ADGRV1     MCD-017-3chr5:
89923448-89923448
GTexonicMaternalnonsynonymous SNVNM_032119c.G1093Tp.D365Y20.6-Tuncay2023 G
ARHGEF6     MCD-016-3chrX:
135829739-135829739
CGexonicMaternalnonsynonymous SNVNM_004840c.G262Cp.D88H11.784.0E-4Tuncay2023 G
LMO7     MCD-016-3chr13:
76409449-76409449
GTexonicMaternalnonsynonymous SNVNM_015842
NM_005358
NM_001306080
c.G2608T
c.G2461T
c.G3307T
p.D870Y
p.D821Y
p.D1103Y
17.192.542E-5Tuncay2023 G
CYLC1     MCD-016-3chrX:
83128919-83128919
GTexonicMaternalnonsynonymous SNVNM_021118c.G1203Tp.K401N2.319-Tuncay2023 G
CAPN6     MCD-016-3chrX:
110491920-110491920
CTexonicMaternalnonsynonymous SNVNM_014289c.G1361Ap.R454H19.01-Tuncay2023 G
MAMLD1     MCD-018-3chrX:
149680360-149680360
CTexonicMaternalnonsynonymous SNVNM_001177465c.C2014Tp.L672F15.42-Tuncay2023 G
UBL4A     MCD-017-3chrX:
153714877-153714877
TCexonicMaternalnonsynonymous SNVNM_014235c.A47Gp.Q16R17.6-Tuncay2023 G
TTN     MCD-018-3chr2:
179529382-179529382
TAexonicMaternalnonsynonymous SNVNM_001267550c.A36201Tp.E12067D20.9-Tuncay2023 G
TTN     MCD-018-3chr2:
179425387-179425387
CTexonicMaternalnonsynonymous SNVNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550
c.G58277A
c.G58652A
c.G58853A
c.G77768A
c.G80549A
c.G85472A
p.R19426H
p.R19551H
p.R19618H
p.R25923H
p.R26850H
p.R28491H
14.931.0E-4Tuncay2023 G
ZZEF1     MCD-017-3chr17:
3921227-3921227
CTexonicMaternalnonsynonymous SNVNM_015113c.G7544Ap.R2515Q31.02.473E-5Tuncay2023 G
TTC3     MCD-017-3chr21:
38538565-38538565
CTexonicMaternalnonsynonymous SNVNM_001001894
NM_003316
c.C4049T
c.C4049T
p.T1350I
p.T1350I
18.191.647E-5Tuncay2023 G
RAI2     MCD-017-3chrX:
17820025-17820025
CTexonicMaternalnonsynonymous SNVNM_001172732
NM_021785
NM_001172739
NM_001172743
c.G106A
c.G106A
c.G106A
c.G106A
p.E36K
p.E36K
p.E36K
p.E36K
17.762.281E-5Tuncay2023 G
CT47B1     MCD-017-3chrX:
120008963-120008963
CGexonicMaternalnonsynonymous SNVNM_001145718c.G562Cp.G188R13.316.997E-5Tuncay2023 G
DCC     MCD-019-3chr18:
50432527-50432527
AGexonicMaternalnonsynonymous SNVNM_005215c.A526Gp.N176D16.071.65E-5Tuncay2023 G
PIKFYVE     MCD-019-3chr2:
209190942-209190942
CGexonicMaternalnonsynonymous SNVNM_015040c.C3407Gp.T1136S13.95-Tuncay2023 G
ZNF407     MCD-019-3chr18:
72776411-72776411
TCexonicMaternalnonsynonymous SNVNM_017757c.T6734Cp.L2245P12.38-Tuncay2023 G
TTN     MCD-019-3chr2:
179514293-179514293
GAexonicMaternalnonsynonymous SNVNM_001267550c.C39961Tp.P13321S12.33-Tuncay2023 G
ANKRD31     MCD-018-3chr5:
74532494-74532495
CTCexonicMaternalframeshift deletionNM_001164443c.17delAp.Q6fs--Tuncay2023 G
USH2A     MCD-018-3chr1:
215901460-215901460
CTexonicMaternalnonsynonymous SNVNM_206933c.G11978Ap.G3993D32.08.27E-6Tuncay2023 G
RAD9B     MCD-018-3chr12:
110952911-110952911
CTexonicMaternalnonsynonymous SNVNM_001286531
NM_001286532
NM_001286535
NM_152442
NM_001286533
NM_001286534
c.C329T
c.C329T
c.C545T
c.C545T
c.C71T
c.C71T
p.A110V
p.A110V
p.A182V
p.A182V
p.A24V
p.A24V
18.12-Tuncay2023 G
MOV10L1     MCD-018-3chr22:
50566849-50566849
AGexonicMaternalnonsynonymous SNVNM_001164104
NM_001164105
NM_018995
c.A1823G
c.A1763G
c.A1823G
p.H608R
p.H588R
p.H608R
8.734.0E-4Tuncay2023 G
ANO2     MCD-020-4chr12:
5724394-5724394
TCexonicMaternalnonsynonymous SNVNM_001278596
NM_001278597
c.A1901G
c.A1889G
p.N634S
p.N630S
22.43.473E-5Tuncay2023 G
FLNA     MCD-020-4chrX:
153577909-153577909
CTexonicMaternalnonsynonymous SNVNM_001456
NM_001110556
c.G7553A
c.G7577A
p.S2518N
p.S2526N
28.6-Tuncay2023 G
PAGE4     MCD-020-4chrX:
49598460-49598460
CAexonicMaternalnonsynonymous SNVNM_007003c.C304Ap.P102T6.2961.523E-5Tuncay2023 G
MYOM2     MCD-020-4chr8:
2088749-2088749
AGexonicMaternalnonsynonymous SNVNM_003970c.A3904Gp.T1302A10.444.0E-4Tuncay2023 G
REPS2     MCD-020-3chrX:
17151960-17151960
CTexonicMaternalnonsynonymous SNVNM_001080975
NM_004726
c.C1589T
c.C1592T
p.S530L
p.S531L
12.281.14E-5Tuncay2023 G
SHROOM4     MCD-020-3chrX:
50378020-50378020
GTexonicMaternalnonsynonymous SNVNM_020717c.C1053Ap.S351R1.3154.0E-4Tuncay2023 G
L1CAM     MCD-020-4chrX:
153136256-153136256
CTexonicMaternalnonsynonymous SNVNM_001143963
NM_000425
NM_024003
NM_001278116
c.G668A
c.G683A
c.G683A
c.G683A
p.R223Q
p.R228Q
p.R228Q
p.R228Q
20.53.426E-5Tuncay2023 G
RTL3     MCD-020-3chrX:
77912873-77912873
CAexonicMaternalstopgainNM_152694c.G1045Tp.E349X21.4-Tuncay2023 G
MYO3B     MCD-022-3chr2:
171256771-171256771
CTexonicMaternalnonsynonymous SNVNM_001083615
NM_138995
c.C1865T
c.C1865T
p.S622F
p.S622F
32.02.0E-4Tuncay2023 G
DISP1     MCD-022-3chr1:
223176549-223176549
GAexonicMaternalnonsynonymous SNVNM_032890c.G1810Ap.A604T12.596.589E-5Tuncay2023 G
ZNF418     MCD-022-3chr19:
58438890-58438890
TCexonicMaternalnonsynonymous SNVNM_001317030
NM_133460
NM_001317027
NM_001317028
NM_001317029
c.A404G
c.A659G
c.A722G
c.A662G
c.A659G
p.Q135R
p.Q220R
p.Q241R
p.Q221R
p.Q220R
8.105-Tuncay2023 G
TMEM173     MCD-022-3chr5:
138858039-138858039
CAexonicMaternalnonsynonymous SNVNM_001301738
NM_198282
c.G575T
c.G575T
p.G192V
p.G192V
13.53.0E-4Tuncay2023 G
SSX3     MCD-020-4chrX:
48213442-48213442
CAexonicMaternalnonsynonymous SNVNM_021014c.G272Tp.G91V7.278-Tuncay2023 G
REPS2     MCD-020-4chrX:
17151960-17151960
CTexonicMaternalnonsynonymous SNVNM_001080975
NM_004726
c.C1589T
c.C1592T
p.S530L
p.S531L
12.281.14E-5Tuncay2023 G
PHLDB2     MCD-021-3chr3:
111603963-111603963
TAexonicMaternalnonsynonymous SNVNM_001134438
NM_001134439
NM_145753
NM_001134437
c.T1039A
c.T1039A
c.T1039A
c.T1120A
p.S347T
p.S347T
p.S347T
p.S374T
16.77-Tuncay2023 G
PHLDB2     MCD-021-3chr3:
111603790-111603790
AGexonicMaternalnonsynonymous SNVNM_001134438
NM_001134439
NM_145753
NM_001134437
c.A866G
c.A866G
c.A866G
c.A947G
p.K289R
p.K289R
p.K289R
p.K316R
13.275.771E-5Tuncay2023 G
FLG     MCD-024-3chr1:
152277401-152277401
CTexonicMaternalnonsynonymous SNVNM_002016c.G9961Ap.G3321R11.16-Tuncay2023 G
FLG     MCD-024-3chr1:
152277029-152277029
TCexonicMaternalnonsynonymous SNVNM_002016c.A10333Gp.R3445G6.382-Tuncay2023 G
AMMECR1     MCD-024-3chrX:
109561182-109561182
GCexonicMaternalnonsynonymous SNVNM_001025580
NM_015365
c.C118G
c.C118G
p.R40G
p.R40G
11.83-Tuncay2023 G
FLG     MCD-024-3chr1:
152282909-152282909
CTexonicMaternalnonsynonymous SNVNM_002016c.G4453Ap.G1485S10.584.942E-5Tuncay2023 G
CFAP65     MCD-023-3chr2:
219900232-219900232
CTexonicMaternalnonsynonymous SNVNM_001278296
NM_152389
NM_001278295
NM_194302
c.G317A
c.G317A
c.G479A
c.G512A
p.R106Q
p.R106Q
p.R160Q
p.R171Q
17.811.0E-4Tuncay2023 G
MYO5B     MCD-023-3chr18:
47369741-47369741
GAexonicMaternalnonsynonymous SNVNM_001080467c.C4481Tp.S1494L12.394.0E-4Tuncay2023 G
VEGFD     MCD-023-3chrX:
15373332-15373332
GCexonicMaternalnonsynonymous SNVNM_004469c.C581Gp.T194R5.8351.142E-5Tuncay2023 G
FAM104B     MCD-023-3chrX:
55172638-55172638
TGexonicMaternalnonsynonymous SNVNM_001166699
NM_001166700
NM_001166701
NM_001166702
NM_001166703
NM_138362
c.A230C
c.A230C
c.A227C
c.A218C
c.A224C
c.A227C
p.N77T
p.N77T
p.N76T
p.N73T
p.N75T
p.N76T
9.798-Tuncay2023 G
TTN     MCD-025-3chr2:
179440040-179440040
CTexonicMaternalnonsynonymous SNVNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550
c.G43624A
c.G43999A
c.G44200A
c.G63115A
c.G65896A
c.G70819A
p.A14542T
p.A14667T
p.A14734T
p.A21039T
p.A21966T
p.A23607T
15.82-Tuncay2023 G
TRO     MCD-024-3chrX:
54949219-54949219
CTexonicMaternalnonsynonymous SNVNM_001039705
NM_016157
NM_177556
c.C254T
c.C254T
c.C254T
p.A85V
p.A85V
p.A85V
6.491-Tuncay2023 G
OR8K1     MCD-025-3chr11:
56113870-56113875
TTATTCTexonicMaternalframeshift deletionNM_001002907c.357_361delp.F119fs--Tuncay2023 G
MYOM3     MCD-025-3chr1:
24387787-24387787
GCexonicMaternalnonsynonymous SNVNM_152372c.C3947Gp.A1316G17.07-Tuncay2023 G
STAB1     MCD-024-3chr3:
52557482-52557482
GAexonicMaternalnonsynonymous SNVNM_015136c.G7180Ap.A2394T0.4471.678E-5Tuncay2023 G
FAT1     MCD-024-3chr4:
187629414-187629414
TCexonicMaternalnonsynonymous SNVNM_005245c.A1568Gp.E523G13.65-Tuncay2023 G
FAM47C     MCD-024-3chrX:
37027640-37027640
GAexonicMaternalnonsynonymous SNVNM_001013736c.G1157Ap.R386H6.6183.427E-5Tuncay2023 G
UNC13C     MCD-024-3chr15:
54919033-54919033
GAexonicMaternalnonsynonymous SNVNM_001080534c.G6367Ap.G2123R15.227.214E-5Tuncay2023 G
RALGAPA2     MCD-028-3chr20:
20552253-20552253
GAexonicMaternalnonsynonymous SNVNM_020343c.C3005Tp.A1002V13.78-Tuncay2023 G
MUC17     MCD-028-3chr7:
100663480-100663480
CGexonicMaternalnonsynonymous SNVNM_001040105c.C64Gp.Q22E1.877-Tuncay2023 G
FRMD7     MCD-032-4chrX:
131212370-131212370
CTexonicMaternalnonsynonymous SNVNM_001306193
NM_194277
c.G1630A
c.G1675A
p.G544S
p.G559S
2.4081.0E-4Tuncay2023 G
ACTN3     MCD-032-4chr11:
66322644-66322644
CTexonicMaternalunknown-9.1E-5Tuncay2023 G
ITGA11     MCD-027-3chr15:
68624693-68624693
CTexonicMaternalnonsynonymous SNVNM_001004439c.G1549Ap.V517I9.697.0E-4Tuncay2023 G
PPP6R1     MCD-026-3chr19:
55742199-55742199
GCexonicMaternalnonsynonymous SNVNM_014931c.C2513Gp.P838R10.457.0E-4Tuncay2023 G
AHNAK2     MCD-028-3chr14:
105416755-105416755
TGexonicMaternalnonsynonymous SNVNM_138420c.A5033Cp.E1678A11.165.883E-5Tuncay2023 G
MYO1A     MCD-027-3chr12:
57431686-57431686
CTexonicMaternalnonsynonymous SNVNM_005379
NM_001256041
c.G1928A
c.G1928A
p.R643Q
p.R643Q
14.842.491E-5Tuncay2023 G
ZNF717     MCD-032-4chr3:
75787519-75787519
CAexonicMaternalnonsynonymous SNVNM_001128223
NM_001290208
NM_001290209
c.G1255T
c.G1255T
c.G1105T
p.G419W
p.G419W
p.G369W
13.76-Tuncay2023 G
ZNF717     MCD-032-4chr3:
75787516-75787516
CGexonicMaternalnonsynonymous SNVNM_001128223
NM_001290208
NM_001290209
c.G1258C
c.G1258C