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Results for "Viggiano2022"

Variant Events: 105

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
CACNA1H     Viggiano2022:22.4chr16:
1270945-1270945		CTexonicPaternalnonsynonymous SNVNM_001005407
NM_021098		c.C6995T
c.C7013T		p.S2332F
p.S2338F		5.6321.0E-4Viggiano2022 GT
CACNA1H     Viggiano2022:22.3chr16:
1270945-1270945		CTexonicPaternalnonsynonymous SNVNM_001005407
NM_021098		c.C6995T
c.C7013T		p.S2332F
p.S2338F		5.6321.0E-4Viggiano2022 GT
CACNA1G     Viggiano2022:48.3chr17:
48646652-48646652		ATexonicPaternalnonsynonymous SNVNM_001256324
NM_001256325
NM_001256326
NM_001256327
NM_001256328
NM_001256329
NM_001256330
NM_001256331
NM_001256332
NM_001256333
NM_001256334
NM_001256359
NM_001256360
NM_001256361
NM_018896
NM_198376
NM_198377
NM_198378
NM_198379
NM_198380
NM_198382
NM_198383
NM_198384
NM_198385
NM_198386
NM_198387
NM_198388
NM_198396		c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T
c.A481T		p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F
p.I161F		13.892.485E-5Viggiano2022 GT
CACNB1     Viggiano2022:28.3chr17:
37343823-37343823		TCexonicPaternalnonsynonymous SNVNM_000723
NM_199247
NM_199248		c.A323G
c.A323G
c.A323G		p.N108S
p.N108S
p.N108S		17.18.237E-6Viggiano2022 GT
CACNA1H     Viggiano2022:17.3chr16:
1265066-1265066		GAexonicMaternalnonsynonymous SNVNM_001005407
NM_021098		c.G5006A
c.G5024A		p.R1669Q
p.R1675Q		19.642.0E-4Viggiano2022 GT
CACNA1H     Viggiano2022:62.4chr16:
1260913-1260913		GAexonicMaternalnonsynonymous SNVNM_001005407
NM_021098		c.G4165A
c.G4165A		p.A1389T
p.A1389T		11.971.675E-5Viggiano2022 GT
CACNA1H     Viggiano2022:73.3chr16:
1270659-1270659		GGGexonicMaternalframeshift insertionNM_001005407
NM_021098		c.6709dupG
c.6727dupG		p.D2237fs
p.D2243fs		--Viggiano2022 GT
CACNA1H     Viggiano2022:92.3chr16:
1270176-1270176		CTexonicMaternalnonsynonymous SNVNM_001005407
NM_021098		c.C6226T
c.C6244T		p.R2076W
p.R2082W		13.161.087E-5Viggiano2022 GT
CACNA1A     Viggiano2022:4.3chr19:
13325090-13325090		CTexonicMaternalnonsynonymous SNVNM_001127221
NM_001127222		c.G5900A
c.G5897A		p.R1967Q
p.R1966Q		21.84.0E-4Viggiano2022 GT
CACNA1A     Viggiano2022:94.3chr19:
13325055-13325055		CTexonicMaternalnonsynonymous SNVNM_001127221
NM_001127222		c.G5935A
c.G5932A		p.E1979K
p.E1978K		19.45-Viggiano2022 GT
CACNA1I     Viggiano2022:4.3chr22:
40068239-40068239		GAexonicPaternalnonsynonymous SNVNM_001003406
NM_021096		c.G4470A
c.G4575A		p.M1490I
p.M1525I		4.7618.281E-6Viggiano2022 GT
CACNA1I     Viggiano2022:16.3chr22:
39966842-39966842		CTexonicMaternalnonsynonymous SNVNM_001003406
NM_021096		c.C85T
c.C85T		p.R29W
p.R29W		16.162.0E-4Viggiano2022 GT
CACNA1G     Viggiano2022:66.3chr17:
48674196-48674196		GAexonicMaternalnonsynonymous SNVNM_001256332
NM_198376
NM_198379
NM_198382
NM_198383
NM_198387
NM_198388
NM_198396
NM_001256324
NM_001256325
NM_001256326
NM_001256327
NM_001256328
NM_001256329
NM_001256330
NM_001256331
NM_001256333
NM_001256334
NM_001256359
NM_001256360
NM_001256361
NM_018896
NM_198377
NM_198378
NM_198380
NM_198384
NM_198385
NM_198386		c.G3101A
c.G3101A
c.G3101A
c.G3101A
c.G3101A
c.G3101A
c.G3101A
c.G3101A
c.G3170A
c.G3170A
c.G3170A
c.G3170A
c.G3170A
c.G3170A
c.G3170A
c.G3170A
c.G3170A
c.G3170A
c.G3170A
c.G3170A
c.G3170A
c.G3170A
c.G3170A
c.G3170A
c.G3170A
c.G3170A
c.G3170A
c.G3170A		p.G1034D
p.G1034D
p.G1034D
p.G1034D
p.G1034D
p.G1034D
p.G1034D
p.G1034D
p.G1057D
p.G1057D
p.G1057D
p.G1057D
p.G1057D
p.G1057D
p.G1057D
p.G1057D
p.G1057D
p.G1057D
p.G1057D
p.G1057D
p.G1057D
p.G1057D
p.G1057D
p.G1057D
p.G1057D
p.G1057D
p.G1057D
p.G1057D		20.9-Viggiano2022 GT
CACNA1G     Viggiano2022:34.3chr17:
48653223-48653223		GAexonicMaternalnonsynonymous SNVNM_001256324
NM_001256325
NM_001256326
NM_001256327
NM_001256328
NM_001256329
NM_001256330
NM_001256331
NM_001256332
NM_001256333
NM_001256334
NM_001256359
NM_001256360
NM_001256361
NM_018896
NM_198376
NM_198377
NM_198378
NM_198379
NM_198380
NM_198382
NM_198383
NM_198384
NM_198385
NM_198386
NM_198387
NM_198388
NM_198396		c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A
c.G1460A		p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H
p.R487H		18.385.387E-5Viggiano2022 GT
CACNA1A     Viggiano2022:113.4chr19:
13319800-13319800		TCexonicUnknownnonsynonymous SNVNM_001127221
NM_001127222		c.A6553G
c.A6550G		p.T2185A
p.T2184A		11.0-Viggiano2022 GT
CACNA1G     Viggiano2022:5.3chr17:
48703465-48703465		CGexonicPaternalnonsynonymous SNVNM_198387
NM_198388
NM_001256328
NM_001256330
NM_001256331
NM_001256332
NM_001256360
NM_001256361
NM_198378
NM_198379
NM_198382
NM_198386
NM_001256324
NM_001256325
NM_001256326
NM_001256327
NM_001256329
NM_001256359
NM_198380
NM_198383
NM_198384
NM_198396
NM_198377
NM_198385
NM_018896		c.C6106G
c.C6085G
c.C6133G
c.C6073G
c.C6052G
c.C6037G
c.C6100G
c.C6094G
c.C6175G
c.C6250G
c.C6139G
c.C6154G
c.C6298G
c.C6229G
c.C6217G
c.C6187G
c.C6106G
c.C6127G
c.C6319G
c.C6274G
c.C6208G
c.C6385G
c.C6454G
c.C6352G
c.C6487G		p.L2036V
p.L2029V
p.L2045V
p.L2025V
p.L2018V
p.L2013V
p.L2034V
p.L2032V
p.L2059V
p.L2084V
p.L2047V
p.L2052V
p.L2100V
p.L2077V
p.L2073V
p.L2063V
p.L2036V
p.L2043V
p.L2107V
p.L2092V
p.L2070V
p.L2129V
p.L2152V
p.L2118V
p.L2163V		6.403-Viggiano2022 GT
MFRP     Viggiano2022:22.3chr11:
119212383-119212383		GAexonicPaternalnonsynonymous SNVNM_031433c.C1615Tp.R539C21.23.395E-5Viggiano2022 GT
CASZ1     Viggiano2022:22.4chr1:
10713547-10713547		GAexonicPaternalnonsynonymous SNVNM_001079843
NM_017766		c.C2567T
c.C2567T		p.P856L
p.P856L		10.731.0E-4Viggiano2022 GT
CDC42BPB     Viggiano2022:22.3chr14:
103414132-103414132		CTexonicPaternalnonsynonymous SNVNM_006035c.G3457Ap.E1153K27.45.838E-5Viggiano2022 GT
MFRP     Viggiano2022:22.4chr11:
119212383-119212383		GAexonicPaternalnonsynonymous SNVNM_031433c.C1615Tp.R539C21.23.395E-5Viggiano2022 GT
ARFGEF3     Viggiano2022:22.3chr6:
138657514-138657514		TGexonicDe novononsynonymous SNVNM_020340c.T6425Gp.V2142G29.9-Viggiano2022 GT
CACNA1I     Viggiano2022:14.3chr22:
40075374-40075374		GAexonicMaternalnonsynonymous SNVNM_001003406
NM_021096		c.G5213A
c.G5318A		p.G1738D
p.G1773D		13.6-Viggiano2022 GT
CASZ1     Viggiano2022:22.3chr1:
10713547-10713547		GAexonicPaternalnonsynonymous SNVNM_001079843
NM_017766		c.C2567T
c.C2567T		p.P856L
p.P856L		10.731.0E-4Viggiano2022 GT
ARFGEF3     Viggiano2022:22.4chr6:
138657514-138657514		TGexonicDe novononsynonymous SNVNM_020340c.T6425Gp.V2142G29.9-Viggiano2022 GT
ASTN2     Viggiano2022:22.3chr9:
119737512-119737512		CTexonicPaternalnonsynonymous SNVNM_014010c.G1711Ap.V571I19.941.0E-4Viggiano2022 GT
GRIA1     Viggiano2022:22.4chr5:
153078545-153078545		GAexonicPaternalnonsynonymous SNVNM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020		c.G1124A
c.G1364A
c.G1364A
c.G1394A
c.G1394A
c.G1157A
c.G1079A		p.R375H
p.R455H
p.R455H
p.R465H
p.R465H
p.R386H
p.R360H		20.83.299E-5Viggiano2022 GT
BRINP3     Viggiano2022:22.3chr1:
190067189-190067189		GCexonicMaternalnonsynonymous SNVNM_001317188
NM_199051		c.C1954G
c.C2260G		p.P652A
p.P754A		16.651.653E-5Viggiano2022 GT
ASTN2     Viggiano2022:22.4chr9:
119737512-119737512		CTexonicPaternalnonsynonymous SNVNM_014010c.G1711Ap.V571I19.941.0E-4Viggiano2022 GT
MYO9B     Viggiano2022:22.3chr19:
17314011-17314011		CTexonicMaternalnonsynonymous SNVNM_001130065
NM_004145		c.C4934T
c.C4934T		p.S1645L
p.S1645L		21.93.43E-5Viggiano2022 GT
CDC42BPB     Viggiano2022:22.4chr14:
103414132-103414132		CTexonicPaternalnonsynonymous SNVNM_006035c.G3457Ap.E1153K27.45.838E-5Viggiano2022 GT
GRIA1     Viggiano2022:22.3chr5:
153078545-153078545		GAexonicPaternalnonsynonymous SNVNM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020		c.G1124A
c.G1364A
c.G1364A
c.G1394A
c.G1394A
c.G1157A
c.G1079A		p.R375H
p.R455H
p.R455H
p.R465H
p.R465H
p.R386H
p.R360H		20.83.299E-5Viggiano2022 GT
MYO9B     Viggiano2022:22.4chr19:
17314011-17314011		CTexonicMaternalnonsynonymous SNVNM_001130065
NM_004145		c.C4934T
c.C4934T		p.S1645L
p.S1645L		21.93.43E-5Viggiano2022 GT
CACNB1     Viggiano2022:22.4chr17:
37331453-37331453		ATexonicPaternalnonsynonymous SNVNM_000723c.T1790Ap.I597N14.36-Viggiano2022 GT
MYH4     Viggiano2022:22.4chr17:
10362663-10362663		CTexonicPaternalnonsynonymous SNVNM_017533c.G1492Ap.V498M33.06.589E-5Viggiano2022 GT
SCN4A     Viggiano2022:22.3chr17:
62022812-62022812		CTexonicPaternalnonsynonymous SNVNM_000334c.G3628Ap.E1210K13.432.483E-5Viggiano2022 GT
CACNB1     Viggiano2022:22.3chr17:
37331453-37331453		ATexonicPaternalnonsynonymous SNVNM_000723c.T1790Ap.I597N14.36-Viggiano2022 GT
DNAH10     Viggiano2022:22.3chr12:
124323008-124323008		GAexonicPaternalnonsynonymous SNVNM_207437c.G4554Ap.M1518I24.11.035E-5Viggiano2022 GT
BRINP3     Viggiano2022:22.4chr1:
190067189-190067189		GCexonicMaternalnonsynonymous SNVNM_001317188
NM_199051		c.C1954G
c.C2260G		p.P652A
p.P754A		16.651.653E-5Viggiano2022 GT
MYH4     Viggiano2022:22.3chr17:
10362663-10362663		CTexonicPaternalnonsynonymous SNVNM_017533c.G1492Ap.V498M33.06.589E-5Viggiano2022 GT
DNAH10     Viggiano2022:22.4chr12:
124323008-124323008		GAexonicPaternalnonsynonymous SNVNM_207437c.G4554Ap.M1518I24.11.035E-5Viggiano2022 GT
RPS6KA2     Viggiano2022:22.3chr6:
166872964-166872964		GTexonicPaternalnonsynonymous SNVNM_021135
NM_001006932		c.C1048A
c.C1072A		p.P350T
p.P358T		15.34-Viggiano2022 GT
NAALADL2     Viggiano2022:22.4chr3:
174814885-174814885		AGexonicPaternalnonsynonymous SNVNM_207015c.A349Gp.S117G10.698.293E-6Viggiano2022 GT
LRRC4     Viggiano2022:22.3chr7:
127670965-127670965		CTsplicingPaternalsplicing--Viggiano2022 GT
RPS6KA2     Viggiano2022:22.4chr6:
166872964-166872964		GTexonicPaternalnonsynonymous SNVNM_021135
NM_001006932		c.C1048A
c.C1072A		p.P350T
p.P358T		15.34-Viggiano2022 GT
BCAS1     Viggiano2022:22.3chr20:
52570206-52570206		GAexonicMaternalnonsynonymous SNVNM_001316361
NM_003657		c.C1211T
c.C1445T		p.T404I
p.T482I		14.16-Viggiano2022 GT
SCN4A     Viggiano2022:22.4chr17:
62022812-62022812		CTexonicPaternalnonsynonymous SNVNM_000334c.G3628Ap.E1210K13.432.483E-5Viggiano2022 GT
NAALADL2     Viggiano2022:22.3chr3:
174814885-174814885		AGexonicPaternalnonsynonymous SNVNM_207015c.A349Gp.S117G10.698.293E-6Viggiano2022 GT
BCAS1     Viggiano2022:22.4chr20:
52570206-52570206		GAexonicMaternalnonsynonymous SNVNM_001316361
NM_003657		c.C1211T
c.C1445T		p.T404I
p.T482I		14.16-Viggiano2022 GT
PCCA     Viggiano2022:22.3chr13:
100861635-100861635		CGexonicPaternalnonsynonymous SNVNM_001127692
NM_000282
NM_001178004		c.C440G
c.C518G
c.C518G		p.A147G
p.A173G
p.A173G		19.481.647E-5Viggiano2022 GT
SYNE1     Viggiano2022:22.4chr6:
152774789-152774789		CTexonicPaternalnonsynonymous SNVNM_033071
NM_182961		c.G2980A
c.G2959A		p.D994N
p.D987N		26.2-Viggiano2022 GT
HERC2     Viggiano2022:22.3chr15:
28387515-28387515		GCexonicPaternalnonsynonymous SNVNM_004667c.C11569Gp.L3857V19.45-Viggiano2022 GT
PCCA     Viggiano2022:22.4chr13:
100861635-100861635		CGexonicPaternalnonsynonymous SNVNM_001127692
NM_000282
NM_001178004		c.C440G
c.C518G
c.C518G		p.A147G
p.A173G
p.A173G		19.481.647E-5Viggiano2022 GT
EPPK1     Viggiano2022:22.3chr8:
144941376-144941376		CCCexonicMaternalframeshift insertionNM_031308c.6046dupGp.V2016fs--Viggiano2022 GT
LRRC4     Viggiano2022:22.4chr7:
127670965-127670965		CTsplicingPaternalsplicing--Viggiano2022 GT
SYNE1     Viggiano2022:22.3chr6:
152774789-152774789		CTexonicPaternalnonsynonymous SNVNM_033071
NM_182961		c.G2980A
c.G2959A		p.D994N
p.D987N		26.2-Viggiano2022 GT
EPPK1     Viggiano2022:22.4chr8:
144941376-144941376		CCCexonicMaternalframeshift insertionNM_031308c.6046dupGp.V2016fs--Viggiano2022 GT
DLGAP3     Viggiano2022:105.3chr1:
35334352-35334352		CTexonicMaternalnonsynonymous SNVNM_001080418c.G2339Ap.R780H17.462.676E-5Viggiano2022 GT
ERBIN     Viggiano2022:105.3chr5:
65350373-65350373		GTexonicPaternalnonsynonymous SNVNM_001006600
NM_001253697
NM_001253698
NM_001253699
NM_001253701
NM_018695		c.G3227T
c.G3227T
c.G3227T
c.G3227T
c.G3215T
c.G3227T		p.R1076L
p.R1076L
p.R1076L
p.R1076L
p.R1072L
p.R1076L		22.1-Viggiano2022 GT
LRP2     Viggiano2022:105.3chr2:
170115559-170115559		GAexonicMaternalnonsynonymous SNVNM_004525c.C2489Tp.S830L16.76-Viggiano2022 GT
ABCA7     Viggiano2022:105.3chr19:
1045173-1045173		GCexonicPaternalnonsynonymous SNVNM_019112c.G1388Cp.R463P28.82.0E-4Viggiano2022 GT
LRRC4     Viggiano2022:105.3chr7:
127670965-127670965		CTsplicingDe novosplicing--Viggiano2022 GT
HERC2     Viggiano2022:22.4chr15:
28387515-28387515		GCexonicPaternalnonsynonymous SNVNM_004667c.C11569Gp.L3857V19.45-Viggiano2022 GT
UNC79     Viggiano2022:105.3chr14:
94088270-94088270		ATexonicMaternalnonsynonymous SNVNM_020818c.A4160Tp.N1387I9.235-Viggiano2022 GT
EMSY     Viggiano2022:105.3chr11:
76255376-76255376		TCexonicPaternalnonsynonymous SNVNM_001300943
NM_001300944
NM_020193
NM_001300942		c.T2786C
c.T2786C
c.T2783C
c.T2828C		p.M929T
p.M929T
p.M928T
p.M943T		11.54-Viggiano2022 GT
ITSN1     Viggiano2022:105.3chr21:
35169783-35169783		GAexonicMaternalnonsynonymous SNVNM_001001132
NM_003024		c.G2053A
c.G2053A		p.E685K
p.E685K		15.888.237E-6Viggiano2022 GT
CMPK2     Viggiano2022:105.3chr2:
7005254-7005254		CTexonicMaternalnonsynonymous SNVNM_001256477
NM_001256478
NM_207315		c.G574A
c.G574A
c.G574A		p.V192I
p.V192I
p.V192I		12.53-Viggiano2022 GT
CACNA1B     Viggiano2022:60.3chr9:
141016261-141016261		CTexonicPaternalnonsynonymous SNVNM_000718
NM_001243812		c.C6830T
c.C6643T		p.T2277I
p.L2215F		18.821.0E-4Viggiano2022 GT
CACNA1B     Viggiano2022:87.3chr9:
141016140-141016140		GAexonicMaternalnonsynonymous SNVNM_000718c.G6709Ap.A2237T13.143.0E-4Viggiano2022 GT
CACNA1F     Viggiano2022:5.3chrX:
49067820-49067820		CTexonicMaternalnonsynonymous SNVNM_001256789
NM_001256790
NM_005183		c.G4222A
c.G4060A
c.G4255A		p.A1408T
p.A1354T
p.A1419T		11.131.145E-5Viggiano2022 GT
CACNA1B     Viggiano2022:18.3chr9:
141016359-141016359		GAexonicPaternalnonsynonymous SNVNM_000718c.G6928Ap.V2310M20.65.878E-5Viggiano2022 GT
CACNB4       Viggiano2022:98.3chr2:
152717254-152717254		AGexonicPaternalnonsynonymous SNVNM_001005747
NM_000726
NM_001005746
NM_001145798		c.T737C
c.T839C
c.T785C
c.T839C		p.I246T
p.I280T
p.I262T
p.I280T		24.03.313E-5Viggiano2022 GT
CACNA1B     Viggiano2022:31.3chr9:
141016111-141016111		GAexonicPaternalnonsynonymous SNVNM_000718
NM_001243812		c.G6680A
c.G6493A		p.R2227Q
p.G2165S		17.79-Viggiano2022 GT
CACNA1B     Viggiano2022:66.3chr9:
140918094-140918094		CTexonicMaternalnonsynonymous SNVNM_000718
NM_001243812		c.C2899T
c.C2899T		p.R967W
p.R967W		13.48-Viggiano2022 GT
CACNA1S     Viggiano2022:14.4chr1:
201044667-201044667		AGexonicPaternalnonsynonymous SNVNM_000069c.T1904Cp.M635T15.144.118E-5Viggiano2022 GT
CACNA1S     Viggiano2022:49.3chr1:
201031603-201031603		CGexonicMaternalnonsynonymous SNVNM_000069c.G2893Cp.E965Q15.528.238E-6Viggiano2022 GT
CACNA1D     Viggiano2022:54.3chr3:
53809963-53809963		GAexonicPaternalnonsynonymous SNVNM_001128839
NM_001128840
NM_000720		c.G4208A
c.G4253A
c.G4313A		p.G1403E
p.G1418E
p.G1438E		20.6-Viggiano2022 GT
CACNA2D2     Viggiano2022:101.3chr3:
50403524-50403524		CTexonicMaternalnonsynonymous SNVNM_001005505
NM_001291101
NM_006030
NM_001174051		c.G2780A
c.G2573A
c.G2780A
c.G2801A		p.R927H
p.R858H
p.R927H
p.R934H		18.451.655E-5Viggiano2022 GT
CACNA1E     Viggiano2022:43.3chr1:
181759669-181759669		CAexonicPaternalnonsynonymous SNVNM_001205294
NM_000721
NM_001205293		c.C5818A
c.C5875A
c.C5875A		p.Q1940K
p.Q1959K
p.Q1959K		11.962.485E-5Viggiano2022 GT
CACNA1F     Viggiano2022:112.3chrX:
49068443-49068443		CTexonicMaternalnonsynonymous SNVNM_001256789
NM_001256790
NM_005183		c.G4015A
c.G3853A
c.G4048A		p.G1339S
p.G1285S
p.G1350S		23.22.284E-5Viggiano2022 GT
CACNA1S     Viggiano2022:46.3chr1:
201020224-201020224		TCexonicMaternalnonsynonymous SNVNM_000069c.A4001Gp.Y1334C15.941.647E-5Viggiano2022 GT
CACNA1S     Viggiano2022:40.4chr1:
201017745-201017747		GCAGexonicMaternalframeshift deletionNM_000069c.4404_4405delp.F1468fs--Viggiano2022 GT
CACNB2     Viggiano2022:103.3chr10:
18803206-18803206		GCexonicMaternalnonsynonymous SNVNM_000724
NM_201570
NM_201590
NM_201571
NM_201596		c.G547C
c.G568C
c.G550C
c.G628C
c.G712C		p.D183H
p.D190H
p.D184H
p.D210H
p.D238H		23.2-Viggiano2022 GT
CACNA2D1     Viggiano2022:54.3chr7:
81596917-81596917		CGexonicMaternalnonsynonymous SNVNM_000722c.G2458Cp.D820H12.24-Viggiano2022 GT
CACNB2     Viggiano2022:109.3chr10:
18827163-18827163		CTexonicMaternalnonsynonymous SNVNM_000724
NM_201570
NM_201590
NM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597		c.C1192T
c.C1213T
c.C1195T
c.C1159T
c.C1273T
c.C1201T
c.C1243T
c.C1357T
c.C1285T		p.L398F
p.L405F
p.L399F
p.L387F
p.L425F
p.L401F
p.L415F
p.L453F
p.L429F		22.22.0E-4Viggiano2022 GT
CACNB2     Viggiano2022:109.3chr10:
18803444-18803444		GTexonicMaternalnonsynonymous SNVNM_001167945
NM_201593		c.G591T
c.G675T		p.K197N
p.K225N		13.482.0E-4Viggiano2022 GT
CACNA2D3     Viggiano2022:103.3chr3:
54798358-54798358		GAexonicMaternalnonsynonymous SNVNM_018398c.G1360Ap.E454K36.01.657E-5Viggiano2022 GT
CACNA2D3     Viggiano2022:54.3chr3:
54661868-54661868		AGexonicMaternalnonsynonymous SNVNM_018398c.A1018Gp.I340V11.923.0E-4Viggiano2022 GT
CACNA2D3     Viggiano2022:68.4chr3:
55052251-55052251		CTexonicPaternalnonsynonymous SNVNM_018398c.C2894Tp.T965I11.81-Viggiano2022 GT
CACNA2D3     Viggiano2022:68.3chr3:
55052251-55052251		CTexonicPaternalnonsynonymous SNVNM_018398c.C2894Tp.T965I11.81-Viggiano2022 GT
CACNA2D4     Viggiano2022:22.3chr12:
1995390-1995390		GAexonicPaternalnonsynonymous SNVNM_172364c.C992Tp.A331V32.0-Viggiano2022 GT
CACNA2D4     Viggiano2022:99.4chr12:
1984464-1984464		TCexonicMaternalnonsynonymous SNVNM_172364c.A1759Gp.N587D29.82.484E-5Viggiano2022 GT
CACNA2D4     Viggiano2022:60.3chr12:
2022191-2022191		GAexonicPaternalstopgainNM_172364c.C424Tp.Q142X18.28.643E-6Viggiano2022 GT
CACNA2D4     Viggiano2022:22.4chr12:
1995390-1995390		GAexonicPaternalnonsynonymous SNVNM_172364c.C992Tp.A331V32.0-Viggiano2022 GT
CACNA2D4     Viggiano2022:22.3chr12:
1902919-1902919		CTexonicPaternalnonsynonymous SNVNM_172364c.G3316Ap.A1106T26.9-Viggiano2022 GT
CACNB2     Viggiano2022:56.3chr10:
18828487-18828487		GCexonicPaternalnonsynonymous SNVNM_000724
NM_201570
NM_201590
NM_001167945
NM_201571
NM_201572
NM_201593
NM_201596
NM_201597		c.G1652C
c.G1673C
c.G1655C
c.G1619C
c.G1733C
c.G1661C
c.G1703C
c.G1817C
c.G1745C		p.R551P
p.R558P
p.R552P
p.R540P
p.R578P
p.R554P
p.R568P
p.R606P
p.R582P		15.912.0E-4Viggiano2022 GT
CACNA2D4     Viggiano2022:12.5chr12:
1963193-1963193		GAexonicPaternalnonsynonymous SNVNM_172364c.C2170Tp.R724W28.02.0E-4Viggiano2022 GT
CACNA2D4     Viggiano2022:22.4chr12:
1902919-1902919		CTexonicPaternalnonsynonymous SNVNM_172364c.G3316Ap.A1106T26.9-Viggiano2022 GT
CACNA1H     Viggiano2022:105.3chr16:
1255207-1255207		CTexonicPaternalnonsynonymous SNVNM_001005407
NM_021098		c.C2545T
c.C2545T		p.P849S
p.P849S		13.463.342E-5Viggiano2022 GT
CACNA1H     Viggiano2022:34.3chr16:
1255117-1255117		GAexonicMaternalnonsynonymous SNVNM_001005407
NM_021098		c.G2455A
c.G2455A		p.E819K
p.E819K		12.293.764E-5Viggiano2022 GT
CACNA1H     Viggiano2022:15.3chr16:
1259251-1259251		CTexonicPaternalnonsynonymous SNVNM_001005407
NM_021098		c.C3583T
c.C3583T		p.R1195W
p.R1195W		17.41-Viggiano2022 GT
CACNA1H     Viggiano2022:42.3chr16:
1258193-1258193		ATexonicMaternalnonsynonymous SNVNM_001005407
NM_021098		c.A3335T
c.A3335T		p.D1112V
p.D1112V		5.605-Viggiano2022 GT
CACNA1C     Viggiano2022:16.3chr12:
2788680-2788680		CGexonicMaternalnonsynonymous SNVNM_001129837
NM_001129838
NM_001129839
NM_001129846
NM_001167625
NM_000719
NM_001129829
NM_001129830
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001167623
NM_001167624
NM_001129831
NM_001129832
NM_001129827
NM_199460		c.C5186G
c.C5186G
c.C5180G
c.C5129G
c.C5129G
c.C5162G
c.C5285G
c.C5162G
c.C5219G
c.C5219G
c.C5219G
c.C5213G
c.C5162G
c.C5162G
c.C5162G
c.C5162G
c.C5153G
c.C5162G
c.C5162G
c.C5246G
c.C5222G
c.C5306G
c.C5306G		p.T1729S
p.T1729S
p.T1727S
p.T1710S
p.T1710S
p.T1721S
p.T1762S
p.T1721S
p.T1740S
p.T1740S
p.T1740S
p.T1738S
p.T1721S
p.T1721S
p.T1721S
p.T1721S
p.T1718S
p.T1721S
p.T1721S
p.T1749S
p.T1741S
p.T1769S
p.T1769S		15.525.235E-5Viggiano2022 GT
CACNA1C     Viggiano2022:25.3chr12:
2602428-2602428		CTexonicMaternalnonsynonymous SNVNM_000719
NM_001129827
NM_001129829
NM_001129830
NM_001129831
NM_001129832
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129837
NM_001129838
NM_001129839
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001129846
NM_001167623
NM_001167624
NM_001167625
NM_199460		c.C989T
c.C989T
c.C989T
c.C989T
c.C989T
c.C989T
c.C989T
c.C989T
c.C989T
c.C989T
c.C989T
c.C989T
c.C989T
c.C989T
c.C989T
c.C989T
c.C989T
c.C980T
c.C989T
c.C989T
c.C989T
c.C989T
c.C989T		p.T330M
p.T330M
p.T330M
p.T330M
p.T330M
p.T330M
p.T330M
p.T330M
p.T330M
p.T330M
p.T330M
p.T330M
p.T330M
p.T330M
p.T330M
p.T330M
p.T330M
p.T327M
p.T330M
p.T330M
p.T330M
p.T330M
p.T330M		18.832.482E-5Viggiano2022 GT
CACNA1H     Viggiano2022:45.3chr16:
1254336-1254336		CTexonicPaternalnonsynonymous SNVNM_001005407
NM_021098		c.C2329T
c.C2329T		p.R777C
p.R777C		6.6281.0E-4Viggiano2022 GT
CACNA1H     Viggiano2022:60.3chr16:
1252195-1252195		TCexonicPaternalnonsynonymous SNVNM_001005407
NM_021098		c.T1745C
c.T1745C		p.I582T
p.I582T		8.501-Viggiano2022 GT
Source Variant Information

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Paper alias:

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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.
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