or
or
Exact

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		ACexonicBoth parents, Maternalnonsynonymous 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		CTexonicBoth parents, Maternalnonsynonymous 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		CTexonicBoth parents, Maternalnonsynonymous 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
c.G1108C		p.E420Q
p.E420Q
p.E370Q		16.14-Tuncay2023 G
PUDP     MCD-032-4chrX:
7023829-7023829		CAexonicMaternalnonsynonymous SNVNM_001178135
NM_001178136
NM_012080
NM_001135565		c.G112T
c.G112T
c.G112T
c.G181T		p.D38Y
p.D38Y
p.D38Y
p.D61Y		8.533-Tuncay2023 G
MXRA5     MCD-032-4chrX:
3240379-3240379		GCexonicMaternalnonsynonymous SNVNM_015419c.C3347Gp.T1116R8.509-Tuncay2023 G
CEP112     MCD-032-4chr17:
64173136-64173136		GAexonicMaternalnonsynonymous SNVNM_001199165
NM_001302891		c.C109T
c.C109T		p.R37W
p.R37W		21.71.0E-4Tuncay2023 G
PGK1     MCD-032-4chrX:
77378818-77378818		ACexonicMaternalnonsynonymous SNVNM_000291c.A883Cp.N295H13.05-Tuncay2023 G
C2orf16     MCD-032-4chr2:
27802297-27802297		CTexonicMaternalnonsynonymous SNVNM_032266c.C2858Tp.P953L11.26-Tuncay2023 G
XDH     MCD-032-4chr2:
31628791-31628791		CTexonicMaternalnonsynonymous SNVNM_000379c.G82Ap.A28T11.218.254E-6Tuncay2023 G
CTDSP2     MCD-033-3chr12:
58220831-58220831		CGexonicMaternalnonsynonymous SNVNM_005730c.G302Cp.R101T22.7-Tuncay2023 G
AKAP6     MCD-033-3chr14:
33016175-33016175		CAexonicMaternalnonsynonymous SNVNM_004274c.C2316Ap.D772E9.84-Tuncay2023 G
ZNF717     MCD-033-3chr3:
75787353-75787353		GAexonicMaternalnonsynonymous SNVNM_001128223
NM_001290208
NM_001290209		c.C1421T
c.C1421T
c.C1271T		p.T474I
p.T474I
p.T424I		14.68-Tuncay2023 G
FRG2C     MCD-033-3chr3:
75713564-75713564		TCexonicMaternalnonsynonymous SNVNM_001124759c.T34Cp.C12R2.03-Tuncay2023 G
SYTL5     MCD-032-4chrX:
37931320-37931320		GCexonicMaternalnonsynonymous SNVNM_001163334
NM_138780
NM_001163335		c.G350C
c.G350C
c.G350C		p.G117A
p.G117A
p.G117A		22.13.448E-5Tuncay2023 G
STK26     MCD-032-4chrX:
131205199-131205199		GAexonicMaternalnonsynonymous SNVNM_001042452
NM_001042453
NM_016542		c.G700A
c.G655A
c.G886A		p.A234T
p.A219T
p.A296T		19.25-Tuncay2023 G
CEP152     MCD-033-3chr15:
49031378-49031378		TGexonicMaternalnonsynonymous SNVNM_014985
NM_001194998		c.A4033C
c.A4201C		p.T1345P
p.T1401P		15.25-Tuncay2023 G
UNC93B1     MCD-033-3chr11:
67759136-67759136		CGexonicMaternalunknown16.21-Tuncay2023 G
SLC12A9     MCD-033-4chr7:
100463997-100463997		GAexonicMaternalnonsynonymous SNVNM_020246c.G2515Ap.A839T10.360.0019Tuncay2023 G
CTDSP2     MCD-033-4chr12:
58220831-58220831		CGexonicMaternalnonsynonymous SNVNM_005730c.G302Cp.R101T22.7-Tuncay2023 G
ZNF717     MCD-033-4chr3:
75786041-75786042		AGAexonicMaternalframeshift deletionNM_001128223
NM_001290208
NM_001290209		c.2732delC
c.2732delC
c.2582delC		p.S911fs
p.S911fs
p.S861fs		--Tuncay2023 G
Source Variant Information

, -

Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
More

VariCarta Copyright © 2016-2026 Contact Us