Variant Results

Results for "CACNA1C"

Variant Events: 117

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

CACNA1C

1-0324-003

chr12:
2217705-2217705

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

AU2951303

chr12:
2207952-2207952

intronic

De novo

Yuen2017 G

CACNA1C

1-0473-003

chr12:
2206438-2206438

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

1-0482-003

chr12:
2169359-2169359

CGA

intronic

De novo

Yuen2016 G

CACNA1C

111289

chr12:
2717736-2717736

exonic

nonsynonymous SNV

c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3407A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3476A
c.G3476A
c.G3476A

p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1136H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1159H
p.R1159H
p.R1159H

28.9

Woodbury-Smith2022 E

CACNA1C

2-1244-003

chr12:
2775890-2775890

exonic

Inherited

nonsynonymous SNV

NM_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.G4532A
c.G4532A
c.G4526A
c.G4532A
c.G4532A
c.G4565A
c.G4631A
c.G4565A
c.G4565A
c.G4565A
c.G4565A
c.G4616A
c.G4565A
c.G4565A
c.G4565A
c.G4565A
c.G4556A
c.G4565A
c.G4565A
c.G4649A
c.G4625A
c.G4709A
c.G4709A

p.R1511Q
p.R1511Q
p.R1509Q
p.R1511Q
p.R1511Q
p.R1522Q
p.R1544Q
p.R1522Q
p.R1522Q
p.R1522Q
p.R1522Q
p.R1539Q
p.R1522Q
p.R1522Q
p.R1522Q
p.R1522Q
p.R1519Q
p.R1522Q
p.R1522Q
p.R1550Q
p.R1542Q
p.R1570Q
p.R1570Q

29.3

Jiang2013 G

CACNA1C

2-0306-003

chr12:
2638826-2638826

intronic

De novo

Yuen2016 G

CACNA1C

2-1370-003

chr12:
2351228-2351228

intronic

De novo

Trost2022 G
Yuen2016 G
Yuen2017 G

CACNA1C

AU3371301

chr12:
2328423-2328423

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

AU0146301

chr12:
2190553-2190553

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

2-1477-003

chr12:
2686749-2686749

intronic

De novo

Trost2022 G
Yuen2016 G
Yuen2017 G

CACNA1C

AU2427302

chr12:
2480749-2480749

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

2-0215-003

chr12:
2254982-2254982

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

4-0003-003

chr12:
2179863-2179863

intronic

De novo

Trost2022 G

CACNA1C

3-0368-000

chr12:
2180930-2180930

intronic

De novo

Trost2022 G

CACNA1C

2-0306-004

chr12:
2638826-2638826

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

MCD-016-3

chr12:
2794928-2794928

exonic

Paternal

nonsynonymous SNV

NM_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

14.74

2.491E-5

Tuncay2023 G

CACNA1C

AU3724302

chr12:
2749001-2749001

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

2-1626-003

chr12:
2482024-2482024

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

SP0039355

chr12:
2690829-2690829

CTCCTCT

exonic

De novo

nonframeshift insertion

NM_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.1969_1970insTCCTCT
c.1969_1970insTCCTCT
c.1969_1970insTCCTCT
c.1969_1970insTCCTCT
c.1969_1970insTCCTCT
c.1969_1970insTCCTCT
c.1969_1970insTCCTCT
c.1969_1970insTCCTCT
c.1969_1970insTCCTCT
c.1969_1970insTCCTCT
c.1969_1970insTCCTCT
c.1969_1970insTCCTCT
c.1969_1970insTCCTCT
c.1969_1970insTCCTCT
c.1969_1970insTCCTCT
c.1969_1970insTCCTCT
c.1969_1970insTCCTCT
c.1960_1961insTCCTCT
c.1969_1970insTCCTCT
c.1969_1970insTCCTCT
c.1969_1970insTCCTCT
c.1969_1970insTCCTCT
c.1969_1970insTCCTCT

p.L657delinsLLF
p.L657delinsLLF
p.L657delinsLLF
p.L657delinsLLF
p.L657delinsLLF
p.L657delinsLLF
p.L657delinsLLF
p.L657delinsLLF
p.L657delinsLLF
p.L657delinsLLF
p.L657delinsLLF
p.L657delinsLLF
p.L657delinsLLF
p.L657delinsLLF
p.L657delinsLLF
p.L657delinsLLF
p.L657delinsLLF
p.L654delinsLLF
p.L657delinsLLF
p.L657delinsLLF
p.L657delinsLLF
p.L657delinsLLF
p.L657delinsLLF

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

CACNA1C

AU3964302

chr12:
2365019-2365019

intronic

De novo

Trost2022 G

CACNA1C

7-0224-003

chr12:
2365229-2365229

intronic

De novo

Trost2022 G

CACNA1C

MT_172.3

chr12:
2252752-2252752

intronic

De novo

Trost2022 G

CACNA1C

4-0075-003

chr12:
2285344-2285344

intronic

De novo

Trost2022 G

CACNA1C

5-0002-003

chr12:
2247335-2247335

intronic

De novo

Trost2022 G

CACNA1C

MT_170.3

chr12:
2249475-2249475

intronic

De novo

Trost2022 G

CACNA1C

1-0261-004

chr12:
2299735-2299735

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

2-1509-003

chr12:
2198929-2198929

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

1-0549-003

chr12:
2181244-2181244

intronic

De novo

Trost2022 G

CACNA1C

REACH000718

chr12:
2221995-2221995

intronic

De novo

Trost2022 G

CACNA1C

7-0178-003

chr12:
2489123-2489123

intronic

De novo

Trost2022 G

CACNA1C

AN16641

chr12:
2717736-2717736

exonic

Unknown

nonsynonymous SNV

28.9

D’Gama2015 T

CACNA1C

5-5111-003

chr12:
2500249-2500249

intronic

De novo

Trost2022 G

CACNA1C

2-0142-003

chr12:
2468151-2468151

intronic

De novo

Trost2022 G

CACNA1C

2-1086-004

chr12:
2468157-2468157

intronic

De novo

Trost2022 G

CACNA1C

1-0057-003

chr12:
2406101-2406101

intronic

De novo

Trost2022 G

CACNA1C

3-0178-000

chr12:
2412207-2412207

intronic

De novo

Trost2022 G

CACNA1C

1-1005-004

chr12:
2405672-2405672

intronic

De novo

Trost2022 G

CACNA1C

MSSNG00153-003

chr12:
2589602-2589602

intronic

De novo

Trost2022 G

CACNA1C

MT_189.3

chr12:
2590394-2590394

intronic

De novo

Trost2022 G

CACNA1C

4-0061-003

chr12:
2576785-2576785

intronic

De novo

Trost2022 G

CACNA1C

7-0395-003

chr12:
2581778-2581778

ATC

intronic

De novo

Trost2022 G

CACNA1C

2-0299-003

chr12:
2562373-2562376

CATG

TGTTTCTA

intronic

De novo

Trost2022 G

CACNA1C

7-0373-003

chr12:
2574120-2574120

intronic

De novo

Trost2022 G

CACNA1C

MSSNG00401-003

chr12:
2514926-2514926

intronic

De novo

Trost2022 G

CACNA1C

5-0038-003

chr12:
2544723-2544723

intronic

De novo

Trost2022 G

CACNA1C

MSSNG00197-003

chr12:
2699472-2699472

intronic

De novo

Trost2022 G

CACNA1C

SJD_23.3

chr12:
2711279-2711280

intronic

De novo

Trost2022 G

CACNA1C

216287

chr12:
2692948-2692948

intronic

De novo

Trost2022 G

CACNA1C

AU066206

chr12:
2244999-2244999

intronic

De novo

Yuen2017 G

CACNA1C

1-0158-003

chr12:
2698952-2698954

GCA

CGGGAG

intronic

De novo

Trost2022 G

CACNA1C

MSSNG00404-003

chr12:
2669415-2669415

intronic

De novo

Trost2022 G

CACNA1C

REACH000341

chr12:
2681611-2681611

intronic

De novo

Trost2022 G

CACNA1C

3-0832-000

chr12:
2658825-2658825

intronic

De novo

Trost2022 G

CACNA1C

3-0515-001

chr12:
2665556-2665560

CAGCA

TACCG

intronic

De novo

Trost2022 G

CACNA1C

SP0032351

chr12:
2788856-2788856

exonic

De novo

nonsynonymous SNV

c.C5362T
c.C5362T
c.C5356T
c.C5305T
c.C5305T
c.C5338T
c.C5461T
c.C5338T
c.C5395T
c.C5395T
c.C5395T
c.C5389T
c.C5338T
c.C5338T
c.C5338T
c.C5338T
c.C5329T
c.C5338T
c.C5338T
c.C5422T
c.C5398T
c.C5482T
c.C5482T

p.R1788C
p.R1788C
p.R1786C
p.R1769C
p.R1769C
p.R1780C
p.R1821C
p.R1780C
p.R1799C
p.R1799C
p.R1799C
p.R1797C
p.R1780C
p.R1780C
p.R1780C
p.R1780C
p.R1777C
p.R1780C
p.R1780C
p.R1808C
p.R1800C
p.R1828C
p.R1828C

9.053

5.386E-5

Trost2022 G

CACNA1C

14283.p1

chr12:
2717804-2717804

exonic

Mosaic, De novo

nonsynonymous SNV

c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3475C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3544C
c.G3544C
c.G3544C

p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1159L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1182L
p.V1182L
p.V1182L

29.3

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

CACNA1C

1-1037-003

chr12:
2759444-2759444

intronic

De novo

Trost2022 G

CACNA1C

1552001

chr12:
2693714-2693714

exonic

De novo

nonsynonymous SNV

c.C2270T
c.C2270T
c.C2270T
c.C2270T
c.C2270T
c.C2270T
c.C2270T
c.C2270T
c.C2270T
c.C2270T
c.C2270T
c.C2270T
c.C2270T
c.C2270T
c.C2270T
c.C2270T
c.C2270T
c.C2261T
c.C2270T
c.C2270T
c.C2270T
c.C2270T
c.C2270T

p.A757V
p.A757V
p.A757V
p.A757V
p.A757V
p.A757V
p.A757V
p.A757V
p.A757V
p.A757V
p.A757V
p.A757V
p.A757V
p.A757V
p.A757V
p.A757V
p.A757V
p.A754V
p.A757V
p.A757V
p.A757V
p.A757V
p.A757V

31.0

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CACNA1C

AU055603

chr12:
2782447-2782447

intronic

De novo

Trost2022 G

CACNA1C

AU2622301

chr12:
2727785-2727785

intronic

De novo

Trost2022 G

CACNA1C

4-0073-003

chr12:
2728409-2728410

intronic

De novo

Trost2022 G

CACNA1C

36081

chr12:
2717804-2717804

exonic

De novo

nonsynonymous SNV

29.3

Trost2022 G

CACNA1C

1-1044-003

chr12:
2721952-2721952

intronic

De novo

Trost2022 G

CACNA1C

5-0041-003

chr12:
2674564-2674564

intronic

De novo

Yuen2017 G

CACNA1C

3-0090-001

chr12:
2803255-2803255

UTR3

De novo

Trost2022 G

CACNA1C

7-0097-003

chr12:
2545591-2545591

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

2-1368-003

chr12:
2587931-2587931

intronic

De novo

Trost2022 G
Yuen2016 G
Yuen2017 G

CACNA1C

1-0292-005

chr12:
2771268-2771268

CCTACAG

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

Schaaf2011:2

chr12:
2566833-2566833

exonic

Unknown

nonsynonymous SNV

c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T

p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C

19.41

Schaaf2011 T

CACNA1C

1-0120-003

chr12:
2609270-2609270

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

Schaaf2011:3

chr12:
2595423-2595423

exonic

Unknown

nonsynonymous SNV

c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C

p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T

3.061

5.0E-4

Schaaf2011 T

CACNA1C

Mahjani2021:27

Complex Event; expand row to view variants

nonsynonymous SNV

NM_000719
NM_001129829
NM_001129830
NM_001129831
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_001129827
NM_001129832
NM_199460
NM_000719
NM_001129829
NM_001129830
NM_001129831
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_001129827
NM_001129832
NM_199460

c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3069G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3138G
c.C3138G
c.C3138G
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3068A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3137A
c.T3137A
c.T3137A

p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1023M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1046M
p.I1046M
p.I1046M
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1023N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1046N
p.I1046N
p.I1046N

23.0

Mahjani2021 E
Mahjani2021 E

CACNA1C

Schaaf2011:6

chr12:
2694639-2694639

exonic

Unknown

nonsynonymous SNV

c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2428A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A

p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G810R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R

18.58

3.074E-5

Schaaf2011 T

CACNA1C

Schaaf2011:7

chr12:
2694651-2694651

exonic

Unknown

nonsynonymous SNV

c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2440T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T

p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P814S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S

16.45

0.0035

Schaaf2011 T

CACNA1C

Schaaf2011:4

chr12:
2614069-2614069

exonic

Unknown

nonsynonymous SNV

NM_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_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001129846
NM_199460

c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1166T
c.G1175T
c.G1175T

p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G389V
p.G392V
p.G392V

23.3

8.63E-6

Schaaf2011 T

CACNA1C

AU1725302

chr12:
2301150-2301150

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

Schaaf2011:5

chr12:
2659186-2659186

exonic

Unknown

nonsynonymous SNV

c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1459A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A

p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G487R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R

20.4

8.0E-4

Schaaf2011 T

CACNA1C

Schaaf2011:10

chr12:
2786373-2786373

exonic

Unknown

nonsynonymous SNV

c.G4966A
c.G4966A
c.G4960A
c.G4909A
c.G4909A
c.G4942A
c.G5065A
c.G4942A
c.G4999A
c.G4999A
c.G4999A
c.G4993A
c.G4942A
c.G4942A
c.G4942A
c.G4942A
c.G4933A
c.G4942A
c.G4942A
c.G5026A
c.G5002A
c.G5086A
c.G5086A

p.A1656T
p.A1656T
p.A1654T
p.A1637T
p.A1637T
p.A1648T
p.A1689T
p.A1648T
p.A1667T
p.A1667T
p.A1667T
p.A1665T
p.A1648T
p.A1648T
p.A1648T
p.A1648T
p.A1645T
p.A1648T
p.A1648T
p.A1676T
p.A1668T
p.A1696T
p.A1696T

14.16

8.678E-5

Schaaf2011 T

CACNA1C

Schaaf2011:11

chr12:
2788616-2788616

exonic

Unknown

nonsynonymous SNV

c.G5122A
c.G5122A
c.G5116A
c.G5065A
c.G5065A
c.G5098A
c.G5221A
c.G5098A
c.G5155A
c.G5155A
c.G5155A
c.G5149A
c.G5098A
c.G5098A
c.G5098A
c.G5098A
c.G5089A
c.G5098A
c.G5098A
c.G5182A
c.G5158A
c.G5242A
c.G5242A

p.G1708S
p.G1708S
p.G1706S
p.G1689S
p.G1689S
p.G1700S
p.G1741S
p.G1700S
p.G1719S
p.G1719S
p.G1719S
p.G1717S
p.G1700S
p.G1700S
p.G1700S
p.G1700S
p.G1697S
p.G1700S
p.G1700S
p.G1728S
p.G1720S
p.G1748S
p.G1748S

23.8

3.0E-4

Schaaf2011 T

CACNA1C

Schaaf2011:8

chr12:
2706409-2706409

exonic

Unknown

nonsynonymous SNV

NM_000719
NM_001129827
NM_001129829
NM_001129831
NM_001129832
NM_001129833
NM_001129834
NM_001129837
NM_001129839
NM_001129842
NM_001129844
NM_001167623
NM_001167624
NM_001167625
NM_199460

c.T2807G
c.T2807G
c.T2807G
c.T2807G
c.T2807G
c.T2807G
c.T2807G
c.T2807G
c.T2807G
c.T2807G
c.T2798G
c.T2807G
c.T2807G
c.T2807G
c.T2807G

p.F936C
p.F936C
p.F936C
p.F936C
p.F936C
p.F936C
p.F936C
p.F936C
p.F936C
p.F936C
p.F933C
p.F936C
p.F936C
p.F936C
p.F936C

17.54

Schaaf2011 T

CACNA1C

Schaaf2011:9

chr12:
2719827-2719827

exonic

Unknown

nonsynonymous SNV

c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3670A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3739A
c.G3739A
c.G3739A

p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1224I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1247I
p.V1247I
p.V1247I

14.06

2.479E-5

Schaaf2011 T

CACNA1C

Schaaf2011:14

chr12:
2788901-2788901

exonic

Unknown

nonsynonymous SNV

c.G5407A
c.G5407A
c.G5401A
c.G5350A
c.G5350A
c.G5383A
c.G5506A
c.G5383A
c.G5440A
c.G5440A
c.G5440A
c.G5434A
c.G5383A
c.G5383A
c.G5383A
c.G5383A
c.G5374A
c.G5383A
c.G5383A
c.G5467A
c.G5443A
c.G5527A
c.G5527A

p.G1803R
p.G1803R
p.G1801R
p.G1784R
p.G1784R
p.G1795R
p.G1836R
p.G1795R
p.G1814R
p.G1814R
p.G1814R
p.G1812R
p.G1795R
p.G1795R
p.G1795R
p.G1795R
p.G1792R
p.G1795R
p.G1795R
p.G1823R
p.G1815R
p.G1843R
p.G1843R

11.11

0.0057

Schaaf2011 T

CACNA1C

Schaaf2011:15

chr12:
2791829-2791829

exonic

Unknown

nonsynonymous SNV

c.T5582C
c.T5582C
c.T5576C
c.T5525C
c.T5558C
c.T5681C
c.T5615C
c.T5615C
c.T5615C
c.T5609C
c.T5558C
c.T5558C
c.T5558C
c.T5558C
c.T5549C
c.T5558C
c.T5738C
c.T5663C
c.T5642C
c.T5618C
c.T5663C
c.T5702C
c.T5807C

p.L1861P
p.L1861P
p.L1859P
p.L1842P
p.L1853P
p.L1894P
p.L1872P
p.L1872P
p.L1872P
p.L1870P
p.L1853P
p.L1853P
p.L1853P
p.L1853P
p.L1850P
p.L1853P
p.L1913P
p.L1888P
p.L1881P
p.L1873P
p.L1888P
p.L1901P
p.L1936P

17.15

Schaaf2011 T

CACNA1C

Schaaf2011:12

chr12:
2788667-2788667

exonic

Unknown

nonsynonymous SNV

c.G5173A
c.G5173A
c.G5167A
c.G5116A
c.G5116A
c.G5149A
c.G5272A
c.G5149A
c.G5206A
c.G5206A
c.G5206A
c.G5200A
c.G5149A
c.G5149A
c.G5149A
c.G5149A
c.G5140A
c.G5149A
c.G5149A
c.G5233A
c.G5209A
c.G5293A
c.G5293A

p.A1725T
p.A1725T
p.A1723T
p.A1706T
p.A1706T
p.A1717T
p.A1758T
p.A1717T
p.A1736T
p.A1736T
p.A1736T
p.A1734T
p.A1717T
p.A1717T
p.A1717T
p.A1717T
p.A1714T
p.A1717T
p.A1717T
p.A1745T
p.A1737T
p.A1765T
p.A1765T

14.38

2.0E-4

Schaaf2011 T

CACNA1C

SP0016315

chr12:
2613622-2613622

exonic

De novo

stopgain

NM_001129840
NM_001167623
NM_001167624
NM_001167625

c.T1134G
c.T1134G
c.T1134G
c.T1134G

p.Y378X
p.Y378X
p.Y378X
p.Y378X

39.0

Fu2022 E

CACNA1C

Schaaf2011:13

chr12:
2788865-2788865

exonic

Unknown

nonsynonymous SNV

c.G5371A
c.G5371A
c.G5365A
c.G5314A
c.G5314A
c.G5347A
c.G5470A
c.G5347A
c.G5404A
c.G5404A
c.G5404A
c.G5398A
c.G5347A
c.G5347A
c.G5347A
c.G5347A
c.G5338A
c.G5347A
c.G5347A
c.G5431A
c.G5407A
c.G5491A
c.G5491A

p.G1791S
p.G1791S
p.G1789S
p.G1772S
p.G1772S
p.G1783S
p.G1824S
p.G1783S
p.G1802S
p.G1802S
p.G1802S
p.G1800S
p.G1783S
p.G1783S
p.G1783S
p.G1783S
p.G1780S
p.G1783S
p.G1783S
p.G1811S
p.G1803S
p.G1831S
p.G1831S

5.139

9.177E-6

Schaaf2011 T

CACNA1C

AU2951302

chr12:
2207952-2207952

intronic

De novo

Yuen2017 G

CACNA1C

SP0065670

chr12:
2791834-2791834

exonic

De novo

nonsynonymous SNV

c.T5587C
c.T5587C
c.T5581C
c.T5530C
c.T5563C
c.T5686C
c.T5620C
c.T5620C
c.T5620C
c.T5614C
c.T5563C
c.T5563C
c.T5563C
c.T5563C
c.T5554C
c.T5563C
c.T5743C
c.T5668C
c.T5647C
c.T5623C
c.T5668C
c.T5707C
c.T5812C

p.S1863P
p.S1863P
p.S1861P
p.S1844P
p.S1855P
p.S1896P
p.S1874P
p.S1874P
p.S1874P
p.S1872P
p.S1855P
p.S1855P
p.S1855P
p.S1855P
p.S1852P
p.S1855P
p.S1915P
p.S1890P
p.S1883P
p.S1875P
p.S1890P
p.S1903P
p.S1938P

17.46

Fu2022 E
Trost2022 G
Zhou2022 GE

CACNA1C

Schaaf2011:18

chr12:
2797785-2797785

exonic

Unknown

nonsynonymous SNV

c.G5981A
c.G5981A
c.G5975A
c.G5924A
c.G5957A
c.G6080A
c.G6014A
c.G6014A
c.G6014A
c.G6008A
c.G5957A
c.G5957A
c.G5957A
c.G5957A
c.G5948A
c.G5957A
c.G6137A
c.G6062A
c.G6041A
c.G6017A
c.G6062A
c.G6101A
c.G6206A

p.S1994N
p.S1994N
p.S1992N
p.S1975N
p.S1986N
p.S2027N
p.S2005N
p.S2005N
p.S2005N
p.S2003N
p.S1986N
p.S1986N
p.S1986N
p.S1986N
p.S1983N
p.S1986N
p.S2046N
p.S2021N
p.S2014N
p.S2006N
p.S2021N
p.S2034N
p.S2069N

28.7

8.334E-6

Schaaf2011 T

CACNA1C

Schaaf2011:19

chr12:
2797868-2797868

exonic

Unknown

nonsynonymous SNV

c.G6064A
c.G6064A
c.G6058A
c.G6007A
c.G6040A
c.G6163A
c.G6097A
c.G6097A
c.G6097A
c.G6091A
c.G6040A
c.G6040A
c.G6040A
c.G6040A
c.G6031A
c.G6040A
c.G6220A
c.G6145A
c.G6124A
c.G6100A
c.G6145A
c.G6184A
c.G6289A

p.V2022I
p.V2022I
p.V2020I
p.V2003I
p.V2014I
p.V2055I
p.V2033I
p.V2033I
p.V2033I
p.V2031I
p.V2014I
p.V2014I
p.V2014I
p.V2014I
p.V2011I
p.V2014I
p.V2074I
p.V2049I
p.V2042I
p.V2034I
p.V2049I
p.V2062I
p.V2097I

12.26

4.0E-4

Schaaf2011 T

CACNA1C

Schaaf2011:16

chr12:
2794993-2794993

exonic

Unknown

nonsynonymous SNV

c.C5689T
c.C5689T
c.C5683T
c.C5632T
c.C5665T
c.C5788T
c.C5722T
c.C5722T
c.C5722T
c.C5716T
c.C5665T
c.C5665T
c.C5665T
c.C5665T
c.C5656T
c.C5665T
c.C5845T
c.C5770T
c.C5749T
c.C5725T
c.C5770T
c.C5809T
c.C5914T

p.R1897C
p.R1897C
p.R1895C
p.R1878C
p.R1889C
p.R1930C
p.R1908C
p.R1908C
p.R1908C
p.R1906C
p.R1889C
p.R1889C
p.R1889C
p.R1889C
p.R1886C
p.R1889C
p.R1949C
p.R1924C
p.R1917C
p.R1909C
p.R1924C
p.R1937C
p.R1972C

8.708

0.0075

Schaaf2011 T

CACNA1C

SP0021412

chr12:
2705045-2705045

exonic

De novo

nonsynonymous SNV

c.G2669A
c.G2669A
c.G2669A
c.G2669A
c.G2669A
c.G2669A
c.G2669A
c.G2669A
c.G2669A
c.G2669A
c.G2669A
c.G2669A
c.G2669A
c.G2669A
c.G2669A
c.G2669A
c.G2669A
c.G2660A
c.G2669A
c.G2669A
c.G2669A
c.G2669A
c.G2669A

p.R890H
p.R890H
p.R890H
p.R890H
p.R890H
p.R890H
p.R890H
p.R890H
p.R890H
p.R890H
p.R890H
p.R890H
p.R890H
p.R890H
p.R890H
p.R890H
p.R890H
p.R887H
p.R890H
p.R890H
p.R890H
p.R890H
p.R890H

29.3

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

CACNA1C

Schaaf2011:17

chr12:
2797697-2797697

exonic

Unknown

nonsynonymous SNV

c.G5893C
c.G5893C
c.G5887C
c.G5836C
c.G5869C
c.G5992C
c.G5926C
c.G5926C
c.G5926C
c.G5920C
c.G5869C
c.G5869C
c.G5869C
c.G5869C
c.G5860C
c.G5869C
c.G6049C
c.G5974C
c.G5953C
c.G5929C
c.G5974C
c.G6013C
c.G6118C

p.A1965P
p.A1965P
p.A1963P
p.A1946P
p.A1957P
p.A1998P
p.A1976P
p.A1976P
p.A1976P
p.A1974P
p.A1957P
p.A1957P
p.A1957P
p.A1957P
p.A1954P
p.A1957P
p.A2017P
p.A1992P
p.A1985P
p.A1977P
p.A1992P
p.A2005P
p.A2040P

16.04

Schaaf2011 T

CACNA1C

1-0526-003

chr12:
2172120-2172120

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

Schaaf2011:20

chr12:
2797944-2797944

exonic

Unknown

nonsynonymous SNV

c.C6140G
c.C6140G
c.C6134G
c.C6083G
c.C6116G
c.C6239G
c.C6173G
c.C6173G
c.C6173G
c.C6167G
c.C6116G
c.C6116G
c.C6116G
c.C6116G
c.C6107G
c.C6116G
c.C6296G
c.C6221G
c.C6200G
c.C6176G
c.C6221G
c.C6260G
c.C6365G

p.A2047G
p.A2047G
p.A2045G
p.A2028G
p.A2039G
p.A2080G
p.A2058G
p.A2058G
p.A2058G
p.A2056G
p.A2039G
p.A2039G
p.A2039G
p.A2039G
p.A2036G
p.A2039G
p.A2099G
p.A2074G
p.A2067G
p.A2059G
p.A2074G
p.A2087G
p.A2122G

32.0

8.846E-5

Schaaf2011 T

CACNA1C

SSC10900

chr12:
2717804-2717804

exonic

nonsynonymous SNV

29.3

Antaki2022 GE

CACNA1C

Lim2017:36081

chr12:
2717804-2717804

exonic

Mosaic

nonsynonymous SNV

29.3

Lim2017 E

CACNA1C

12795.p1

chr12:
2262202-2262202

intronic

De novo

Turner2016 G

CACNA1C

7-0256-003

chr12:
2350623-2350623

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

2-1510-003

chr12:
2418643-2418681

CCACACACACACACATACACACACACACACACACACACA

CCACACACACACATACACACACACACACACACACACA

intronic

De novo

Yuen2017 G

CACNA1C

MCD-016-3

chr12:
2797853-2797853

exonic

Maternal

nonsynonymous SNV

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

CACNA1C

AU4392302

chr12:
2284334-2284334

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

2-0145-004

chr12:
2561942-2561942

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

1-0459-003

chr12:
2337839-2337840

intronic

De novo

Yuen2017 G

CACNA1C

7-0095-003

chr12:
2825623-2825623

intergenic

De novo

Yuen2017 G

CACNA1C

Alvarez-Mora2016:ASD-21

chr12:
2797859-2797859

exonic

Maternal

nonsynonymous SNV

c.G6055A
c.G6055A
c.G6049A
c.G5998A
c.G6031A
c.G6154A
c.G6088A
c.G6088A
c.G6088A
c.G6082A
c.G6031A
c.G6031A
c.G6031A
c.G6031A
c.G6022A
c.G6031A
c.G6211A
c.G6136A
c.G6115A
c.G6091A
c.G6136A
c.G6175A
c.G6280A

p.V2019I
p.V2019I
p.V2017I
p.V2000I
p.V2011I
p.V2052I
p.V2030I
p.V2030I
p.V2030I
p.V2028I
p.V2011I
p.V2011I
p.V2011I
p.V2011I
p.V2008I
p.V2011I
p.V2071I
p.V2046I
p.V2039I
p.V2031I
p.V2046I
p.V2059I
p.V2094I

7.132

9.824E-6

Alvarez-Mora2016 T

CACNA1C

7-0149-003

chr12:
2303178-2303178

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

3140_17au

chr12:
2224447-2224447

exonic

De novo

nonsynonymous SNV

c.C107T
c.C107T
c.C107T
c.C107T
c.C107T
c.C107T
c.C107T
c.C107T
c.C107T
c.C107T
c.C107T
c.C107T
c.C107T
c.C107T
c.C107T
c.C107T
c.C107T
c.C107T
c.C107T
c.C107T
c.C107T
c.C107T
c.C107T

p.A36V
p.A36V
p.A36V
p.A36V
p.A36V
p.A36V
p.A36V
p.A36V
p.A36V
p.A36V
p.A36V
p.A36V
p.A36V
p.A36V
p.A36V
p.A36V
p.A36V
p.A36V
p.A36V
p.A36V
p.A36V
p.A36V
p.A36V

13.9

2.33E-5

Fu2022 E

CACNA1C

1-0464-003

chr12:
2571127-2571127

intronic

De novo

Trost2022 G
Yuen2016 G
Yuen2017 G

CACNA1C

138

chr12:
2789681-2789681

exonic

Paternal

nonsynonymous SNV

NM_001167625

c.G5564A

p.C1855Y

5.107

5.0E-4

Wen2017 E

CACNA1C

7-0450-003

chr12:
2675597-2675597

exonic

De novo

stopgain

c.G1518A
c.G1518A
c.G1518A
c.G1518A
c.G1518A
c.G1518A
c.G1518A
c.G1518A
c.G1518A
c.G1518A
c.G1518A
c.G1518A
c.G1518A
c.G1518A
c.G1518A
c.G1518A
c.G1518A
c.G1509A
c.G1518A
c.G1518A
c.G1518A
c.G1518A
c.G1518A

p.W506X
p.W506X
p.W506X
p.W506X
p.W506X
p.W506X
p.W506X
p.W506X
p.W506X
p.W506X
p.W506X
p.W506X
p.W506X
p.W506X
p.W506X
p.W506X
p.W506X
p.W503X
p.W506X
p.W506X
p.W506X
p.W506X
p.W506X

35.0

Trost2022 G
Zhou2022 GE

CACNA1C

1-0186-004

chr12:
2710653-2710653

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

1-0345-003

chr12:
2182797-2182797

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

AU3154302

chr12:
2454742-2454742

intronic

De novo

Trost2022 G
Yuen2017 G

CACNA1C

Viggiano2022:16.3

chr12:
2788680-2788680

exonic

Maternal

nonsynonymous SNV

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

15.52

5.235E-5

Viggiano2022 GT

CACNA1C

Viggiano2022:25.3

chr12:
2602428-2602428

exonic

Maternal

nonsynonymous SNV

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

18.83

2.482E-5

Viggiano2022 GT

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 notes	View
	More