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Results for "ANK2"

Variant Events: 310

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
ANK2     7-0100-004chr4:
114128624-114128624
GTintronicDe novo--Trost2022 G
Yuen2017 G
ANK2     AU030703chr4:
113940862-113940862
CTintronicDe novo--Trost2022 G
Yuen2017 G
ANK2     M20603chr4:
114281999-114281999
CC/TexonicMaternal--Guo2018 T
ANK2     M20619chr4:
114279630-114279630
GA/GexonicMaternal--Guo2018 T
ANK2     M04453chr4:
114290671-114290671
GA/GexonicMaternal--Guo2018 T
ANK2     09C95600chr4:
114177072-114177072
CTexonicUnknownnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C1172T
c.C1172T
c.C1109T
p.P391L
p.P391L
p.P370L
22.48.267E-6Stessman2017 T
ANK2     GX0159.p1chr4:
114203993-114203993
CGexonicPaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C2044G
c.C2044G
c.C1981G
p.L682V
p.L682V
p.L661V
16.012.478E-5Guo2018 T
ANK2     GX0094.p1chr4:
114203951-114203951
CAexonicPaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C2002A
c.C2002A
c.C1939A
p.L668M
p.L668M
p.L647M
16.3-Guo2018 T
ANK2     GX0068.p1chr4:
114274923-114274923
GAexonicPaternalnonsynonymous SNVNM_001148c.G5149Ap.E1717K14.12-Guo2018 T
ANK2     M30585chr4:
114204012-114204012
TAexonicPaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.T2063A
c.T2063A
c.T2000A
p.I688N
p.I688N
p.I667N
19.531.654E-5Guo2018 T
ANK2     GX0493.p1chr4:
114195749-114195749
GAexonicPaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.G1627A
c.G1627A
c.G1564A
p.V543M
p.V543M
p.V522M
12.932.474E-5Guo2018 T
ANK2     ACGC_M32110chr4:
114251508-114251508
CTexonicDe novostopgainNM_001148
NM_020977
NM_001127493
c.C3007T
c.C3007T
c.C2980T
p.R1003X
p.R1003X
p.R994X
39.0-Wang2020 T
ANK2     HN0104.p1chr4:
114120255-114120255
CTexonicPaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C374T
c.C374T
c.C311T
p.A125V
p.A125V
p.A104V
16.09-Guo2018 T
ANK2     Leuven_227371chr4:
114251508-114251508
CTexonicUnknownstopgainNM_001148
NM_020977
NM_001127493
c.C3007T
c.C3007T
c.C2980T
p.R1003X
p.R1003X
p.R994X
39.0-Wang2020 T
ANK2     GX0481.p1chr4:
114278367-114278367
AGexonicPaternalnonsynonymous SNVNM_001148c.A8593Gp.I2865V8.524-Guo2018 T
ANK2     HN0105.p1chr4:
114277747-114277747
GAexonicPaternalnonsynonymous SNVNM_001148c.G7973Ap.R2658K12.3-Guo2018 T
ANK2     GX0315.p1chr4:
114279462-114279462
AGexonicPaternalnonsynonymous SNVNM_001148c.A9688Gp.T3230A0.0032.478E-5Guo2018 T
ANK2     GX0221.p1chr4:
114279462-114279462
AGexonicPaternalnonsynonymous SNVNM_001148c.A9688Gp.T3230A0.0032.478E-5Guo2018 T
ANK2     M32007chr4:
114275991-114275991
AGexonicPaternalnonsynonymous SNVNM_001148c.A6217Gp.I2073V-3.303E-5Guo2018 T
ANK2     GX0013.p1chr4:
114274977-114274977
GCexonicPaternalnonsynonymous SNVNM_001148c.G5203Cp.E1735Q20.9-Guo2018 T
ANK2     GX0044.p1chr4:
114276512-114276512
CGexonicPaternalnonsynonymous SNVNM_001148c.C6738Gp.S2246R16.87-Guo2018 T
ANK2     GX0227.p1chr4:
114276360-114276360
GAexonicPaternalnonsynonymous SNVNM_001148c.G6586Ap.G2196S7.3395.779E-5Guo2018 T
ANK2     Husson2020:253chr4:
114278958-114278958
GTexonicDe novostopgainNM_001148c.G9184Tp.E3062X51.0-Husson2020 E
ANK2     ACGC_GX0029.p1chr4:
114282005-114282005
GAexonicMaternalnonsynonymous SNVNM_020977
NM_001148
NM_001127493
c.G4453A
c.G10708A
c.G4426A
p.E1485K
p.E3570K
p.E1476K
27.47.926E-5Wang2020 T
ANK2     HN0095.p1chr4:
114288808-114288808
GAexonicPaternalnonsynonymous SNVNM_020977
NM_001148
NM_001127493
c.G4864A
c.G11119A
c.G4837A
p.D1622N
p.D3707N
p.D1613N
14.643.0E-4Guo2018 T
ANK2     M30916chr4:
114281999-114281999
CTexonicPaternalnonsynonymous SNVNM_020977
NM_001148
NM_001127493
c.C4447T
c.C10702T
c.C4420T
p.R1483W
p.R3568W
p.R1474W
19.92.0E-4Guo2018 T
ANK2     GX0279.p1chr4:
114294462-114294462
CTexonicPaternalnonsynonymous SNVNM_020977
NM_001148
NM_001127493
c.C5461T
c.C11716T
c.C5434T
p.R1821W
p.R3906W
p.R1812W
20.90.0011Guo2018 T
ANK2     Courchesne_00693-Q5F7Qchr4:
114282005-114282005
GAexonicUnknownnonsynonymous SNVNM_020977
NM_001148
NM_001127493
c.G4453A
c.G10708A
c.G4426A
p.E1485K
p.E3570K
p.E1476K
27.47.926E-5Wang2020 T
ANK2     M30337chr4:
114290759-114290759
CTexonicPaternalnonsynonymous SNVNM_020977
NM_001148
NM_001127493
c.C5153T
c.C11408T
c.C5126T
p.T1718I
p.T3803I
p.T1709I
11.71-Guo2018 T
ANK2     12493.p1chr4:
113969352-113969352
CAintronicDe novo--Turner2016 G
ANK2     ACGC_M30946chr4:
114294462-114294462
CTexonicMaternalnonsynonymous SNVNM_020977
NM_001148
NM_001127493
c.C5461T
c.C11716T
c.C5434T
p.R1821W
p.R3906W
p.R1812W
20.90.0011Wang2020 T
ANK2     Courchesne_00065-B6Y5Gchr4:
114294462-114294462
CTexonicUnknownnonsynonymous SNVNM_020977
NM_001148
NM_001127493
c.C5461T
c.C11716T
c.C5434T
p.R1821W
p.R3906W
p.R1812W
20.90.0011Wang2020 T
ANK2     ACGC_GX0279.p1chr4:
114294462-114294462
CTexonicPaternalnonsynonymous SNVNM_020977
NM_001148
NM_001127493
c.C5461T
c.C11716T
c.C5434T
p.R1821W
p.R3906W
p.R1812W
20.90.0011Wang2020 T
ANK2     SP0020903chr4:
114254351-114254351
CTexonicDe novosynonymous SNVNM_001148
NM_020977
NM_001127493
c.C3366T
c.C3366T
c.C3339T
p.N1122N
p.N1122N
p.N1113N
0.0180.0014Feliciano2019 E
Trost2022 G
ANK2     AU3451301chr4:
114339840-114339858
CCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTintergenicDe novo--Yuen2017 G
ANK2     SP0200765chr4:
114179464-114179464
CTintronic-4.12E-5Zhou2022 GE
ANK2     SP0114332chr4:
114264183-114264184
GAGexonicframeshift deletionNM_001148
NM_020977
NM_001127493
c.4134delA
c.4134delA
c.4107delA
p.G1378fs
p.G1378fs
p.G1369fs
--Zhou2022 GE
ANK2     SP0245338chr4:
114195639-114195639
GAexonicDe novononsynonymous SNVNM_001148
NM_020977
NM_001127493
c.G1517A
c.G1517A
c.G1454A
p.R506H
p.R506H
p.R485H
33.01.648E-5Trost2022 G
Zhou2022 GE
ANK2     SP0189936chr4:
114290716-114290716
ATexonicDe novononsynonymous SNVNM_020977
NM_001148
NM_001127493
c.A5110T
c.A11365T
c.A5083T
p.I1704L
p.I3789L
p.I1695L
7.55-Trost2022 G
Zhou2022 GE
ANK2     SP0203415chr4:
114269426-114269426
GAintronic--Zhou2022 GE
ANK2     Gecz3_35571chr4:
114251470-114251470
GAexonicUnknownnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.G2969A
c.G2969A
c.G2942A
p.R990Q
p.R990Q
p.R981Q
36.02.481E-5Wang2020 T
ANK2     2-0143-004chr4:
113826805-113826805
CGintronicDe novo--Trost2022 G
Yuen2017 G
ANK2     ACGC_M08113chr4:
114251470-114251470
GAexonicUnknownnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.G2969A
c.G2969A
c.G2942A
p.R990Q
p.R990Q
p.R981Q
36.02.481E-5Wang2020 T
ANK2     Gecz1_10557chr4:
114251470-114251470
GAexonicUnknownnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.G2969A
c.G2969A
c.G2942A
p.R990Q
p.R990Q
p.R981Q
36.02.481E-5Wang2020 T
ANK2     AU3846302chr4:
113829923-113829923
GCintronicDe novo--Yuen2017 G
ANK2     UK10K_SKUSE5080174chr4:
114214640-114214640
CGexonicDe novo, Unknownnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C2421G
c.C2421G
c.C2358G
p.I807M
p.I807M
p.I786M
19.3-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
ANK2     Li2017:23720chr4:
114275103-114275103
GCexonicDe novononsynonymous SNVNM_001148c.G5329Cp.V1777L24.8-Li2017 T
ANK2     DEASD_0140_001chr4:
114254247-114254247
CTexonicDe novo, UnknownstopgainNM_001148
NM_020977
NM_001127493
c.C3262T
c.C3262T
c.C3235T
p.R1088X
p.R1088X
p.R1079X
43.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
ANK2     10C105731chr4:
114264189-114264189
CGexonicDe novo, Unknownnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C4139G
c.C4139G
c.C4112G
p.P1380R
p.P1380R
p.P1371R
24.7-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
ANK2     AU1272301chr4:
114275580-114275580
CTexonicUnknownnonsynonymous SNVNM_001148c.C5806Tp.R1936C17.391.649E-5Stessman2017 T
ANK2     2-0278-003chr4:
113952505-113952505
CTintronicDe novo--Yuen2017 G
ANK2     1-0296-004chr4:
113903728-113903728
TGintronicDe novo--Trost2022 G
Yuen2017 G
ANK2     14256_p1chr4:
114251469-114251469
CTexonicDe novostopgainNM_001148
NM_020977
NM_001127493
c.C2968T
c.C2968T
c.C2941T
p.R990X
p.R990X
p.R981X
41.0-Fu2022 E
ANK2     SSC08886chr4:
114277599-114277600
AGAexonicDe novoframeshift deletionNM_001148c.7826delGp.R2609fs--Fu2022 E
Trost2022 G
ANK2     AU027506chr4:
114061889-114061889
CAintronicDe novo--Trost2022 G
Yuen2017 G
ANK2     AU4368303chr4:
114274981-114274981
CGexonicDe novostopgainNM_001148c.C5207Gp.S1736X43.0-Wang2020 T
ANK2     AU3607301chr4:
114278829-114278829
AGexonicDe novononsynonymous SNVNM_001148c.A9055Gp.M3019V0.0084.123E-5Wang2020 T
ANK2     AU1933301chr4:
114346600-114346600
TGintergenicDe novo--Yuen2017 G
ANK2     M23720chr4:
114275103-114275103
GCexonicUnknownnonsynonymous SNVNM_001148c.G5329Cp.V1777L24.8-Guo2018 T
ANK2     AU1933301chr4:
114346606-114346606
TCintergenicDe novo--Yuen2017 G
ANK2     M08650chr4:
114213604-114213604
GTexonicPaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.G2310T
c.G2310T
c.G2247T
p.Q770H
p.Q770H
p.Q749H
20.1-Guo2018 T
ANK2     M15245chr4:
114209599-114209599
AGexonicPaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.A2234G
c.A2234G
c.A2171G
p.N745S
p.N745S
p.N724S
19.24-Guo2018 T
ANK2     M03773chr4:
114275139-114275139
ACexonicPaternalnonsynonymous SNVNM_001148c.A5365Cp.I1789L9.9538.25E-6Guo2018 T
ANK2     M01853chr4:
114262930-114262930
TCexonicPaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.T3980C
c.T3980C
c.T3953C
p.M1327T
p.M1327T
p.M1318T
23.01.647E-5Guo2018 T
ANK2     M02753chr4:
114209556-114209556
CGexonicPaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C2191G
c.C2191G
c.C2128G
p.P731A
p.P731A
p.P710A
20.6-Guo2018 T
ANK2     M01803chr4:
114176906-114176906
CGexonicPaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C1006G
c.C1006G
c.C943G
p.L336V
p.L336V
p.L315V
18.46-Guo2018 T
ANK2     M08778chr4:
114277170-114277170
CTexonicPaternalnonsynonymous SNVNM_001148c.C7396Tp.R2466C14.924.949E-5Guo2018 T
ANK2     M23837chr4:
114277028-114277028
CAexonicPaternalnonsynonymous SNVNM_001148c.C7254Ap.S2418R15.12-Guo2018 T
ANK2     M17593chr4:
114277773-114277773
GAexonicPaternalnonsynonymous SNVNM_001148c.G7999Ap.E2667K29.4-Guo2018 T
ANK2     M11406chr4:
114277380-114277380
CTexonicPaternalnonsynonymous SNVNM_001148c.C7606Tp.L2536F19.26-Guo2018 T
ANK2     M08473chr4:
114275922-114275922
AGexonicPaternalnonsynonymous SNVNM_001148c.A6148Gp.I2050V1.566-Guo2018 T
ANK2     M27835chr4:
114275300-114275300
CGexonicPaternalnonsynonymous SNVNM_001148c.C5526Gp.H1842Q9.151-Guo2018 T
ANK2     M16266chr4:
114276978-114276978
GTexonicPaternalnonsynonymous SNVNM_001148c.G7204Tp.V2402F11.68-Guo2018 T
ANK2     M08476chr4:
114276835-114276835
GCexonicPaternalnonsynonymous SNVNM_001148c.G7061Cp.R2354P0.0778.247E-6Guo2018 T
ANK2     M23733chr4:
114278842-114278842
CAexonicPaternalnonsynonymous SNVNM_001148c.C9068Ap.T3023K14.27-Guo2018 T
ANK2     ACGC_M26767chr4:
114177018-114177018
CTexonicMaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C1118T
c.C1118T
c.C1055T
p.A373V
p.A373V
p.A352V
37.04.119E-5Wang2020 T
ANK2     M20576chr4:
114278416-114278416
AGexonicPaternalnonsynonymous SNVNM_001148c.A8642Gp.E2881G10.21-Guo2018 T
ANK2     ACGC_GX0440.p1chr4:
114177003-114177003
CGexonicMaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C1103G
c.C1103G
c.C1040G
p.A368G
p.A368G
p.A347G
33.0-Wang2020 T
ANK2     SF0035614.p1chr4:
114280250-114280250
GGACexonicframeshift insertionNM_001148c.10476_10477insACp.L3492fs--Wang2020 T
ANK2     M13398chr4:
114278973-114278973
TCexonicPaternalnonsynonymous SNVNM_001148c.T9199Cp.F3067L16.888.263E-6Guo2018 T
ANK2     ACGC_M08494chr4:
114213575-114213575
GCexonicMaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.G2281C
c.G2281C
c.G2218C
p.G761R
p.G761R
p.G740R
27.8-Wang2020 T
ANK2     M17409chr4:
114278904-114278904
TCexonicPaternalnonsynonymous SNVNM_001148c.T9130Cp.S3044P11.53-Guo2018 T
ANK2     ACGC_HN0149.p1chr4:
114195696-114195696
CTexonicMaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C1574T
c.C1574T
c.C1511T
p.A525V
p.A525V
p.A504V
34.0-Wang2020 T
ANK2     M23206chr4:
114277869-114277869
AGexonicPaternalnonsynonymous SNVNM_001148c.A8095Gp.M2699V6.853-Guo2018 T
ANK2     ITAN_382chr4:
114276526-114276531
CAAAGACexonicMaternalframeshift deletionNM_001148c.6753_6757delp.P2251fs--Wang2020 T
ANK2     M10060chr4:
114277868-114277868
CGexonicPaternalnonsynonymous SNVNM_001148c.C8094Gp.S2698R15.548.252E-6Guo2018 T
ANK2     M19574chr4:
114278202-114278202
GAexonicPaternalnonsynonymous SNVNM_001148c.G8428Ap.E2810K12.49-Guo2018 T
ANK2     ACGC_M32047chr4:
114163351-114163351
GAexonicMaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.G877A
c.G877A
c.G814A
p.D293N
p.D293N
p.D272N
24.41.0E-4Wang2020 T
ANK2     SF0071978.p1chr4:
114274454-114274455
GAGexonicframeshift deletionNM_001148c.4681delAp.K1561fs--Wang2020 T
ANK2     M21714chr4:
114278128-114278128
CTexonicPaternalnonsynonymous SNVNM_001148c.C8354Tp.S2785L1.9090.0019Guo2018 T
ANK2     ITAN_1901chr4:
114170989-114170989
CTexonicMaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C961T
c.C961T
c.C898T
p.R321W
p.R321W
p.R300W
20.42.523E-5Wang2020 T
ANK2     SF0015672.p1chr4:
114203874-114203881
TGCAGATATexonicframeshift deletionNM_001148
NM_020977
NM_001127493
c.1926_1932del
c.1926_1932del
c.1863_1869del
p.M642fs
p.M642fs
p.M621fs
--Wang2020 T
ANK2     AU059903chr4:
113970780-113970795
CCCTCCTCCTCCTCCTCCCTCCTCCTCCTUTR5De novo--Yuen2017 G
ANK2     M16082chr4:
114286206-114286206
GAexonicPaternalnonsynonymous SNVNM_020977
NM_001148
NM_001127493
c.G4645A
c.G10900A
c.G4618A
p.V1549I
p.V3634I
p.V1540I
5.2973.298E-5Guo2018 T
ANK2     M20250chr4:
114280401-114280401
AGexonicPaternalnonsynonymous SNVNM_001148c.A10627Gp.I3543V6.482.48E-5Guo2018 T
ANK2     M27874chr4:
114288983-114288983
CAexonicPaternalnonsynonymous SNVNM_020977
NM_001148
NM_001127493
c.C5039A
c.C11294A
c.C5012A
p.S1680Y
p.S3765Y
p.S1671Y
13.72-Guo2018 T
ANK2     M15147chr4:
114288904-114288904
GTexonicPaternalnonsynonymous SNVNM_020977
NM_001148
NM_001127493
c.G4960T
c.G11215T
c.G4933T
p.A1654S
p.A3739S
p.A1645S
8.637-Guo2018 T
ANK2     12645.p1chr4:
114232545-114232545
CTexonicDe novo, UnknownstopgainNM_001148
NM_020977
NM_001127493
c.C2683T
c.C2683T
c.C2620T
p.R895X
p.R895X
p.R874X
42.0-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
ANK2     13882.p1chr4:
114203820-114203820
GAintronicDe novo-1.593E-5Iossifov2014 E
Kosmicki2017 E
ANK2     M01513chr4:
114279583-114279583
GAexonicPaternalnonsynonymous SNVNM_001148c.G9809Ap.G3270D0.001-Guo2018 T
ANK2     ACGC_GX0080.p1chr4:
114260477-114260477
ATexonicMaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.A3892T
c.A3892T
c.A3865T
p.R1298W
p.R1298W
p.R1289W
29.2-Wang2020 T
ANK2     14256.p1chr4:
114251469-114251469
CTexonicDe novo, UnknownstopgainNM_001148
NM_020977
NM_001127493
c.C2968T
c.C2968T
c.C2941T
p.R990X
p.R990X
p.R981X
41.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
ANK2     M18482chr4:
114279201-114279201
CGexonicPaternalnonsynonymous SNVNM_001148c.C9427Gp.L3143V0.0011.66E-5Guo2018 T
ANK2     ACGC_M13357chr4:
114251431-114251431
GAexonicMaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.G2930A
c.G2930A
c.G2903A
p.R977Q
p.R977Q
p.R968Q
36.08.347E-6Wang2020 T
ANK2     14130.p1chr4:
114275304-114275304
CTexonicDe novononsynonymous SNVNM_001148c.C5530Tp.P1844S14.11-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE
ANK2     M12501chr4:
114279979-114279979
ACexonicPaternalnonsynonymous SNVNM_001148c.A10205Cp.K3402T4.841.649E-5Guo2018 T
ANK2     ACGC_M16263chr4:
114278947-114278947
GTexonicMaternalnonsynonymous SNVNM_001148c.G9173Tp.R3058L20.9-Wang2020 T
ANK2     13768.p1chr4:
114277599-114277600
AGAexonicDe novoframeshift deletionNM_001148c.7826delGp.R2609fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Zhou2022 GE
ANK2     M16165chr4:
114279630-114279630
GAexonicPaternalnonsynonymous SNVNM_001148c.G9856Ap.E3286K25.61.652E-5Guo2018 T
ANK2     ACGC_HEN0140.p1chr4:
114267077-114267077
CAexonicMaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C4270A
c.C4270A
c.C4243A
p.P1424T
p.P1424T
p.P1415T
28.9-Wang2020 T
ANK2     3-0530-000chr4:
113748185-113748185
ACintronicDe novo--Trost2022 G
ANK2     2-1258-003chr4:
113776413-113776414
GTAAintronicDe novo--Trost2022 G
ANK2     REACH000154chr4:
113746090-113746090
AGintronicDe novo--Trost2022 G
ANK2     S9L7Kchr4:
114251568-114251568
GAexonicUnknownnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.G3067A
c.G3067A
c.G3040A
p.G1023R
p.G1023R
p.G1014R
25.48.257E-6Stessman2017 T
ANK2     M26951chr4:
114290671-114290671
GA/GexonicPaternal--Guo2018 T
ANK2     1-0611-003chr4:
113946318-113946318
CTintronicDe novo--Trost2022 G
ANK2     1008chr4:
113968948-113968948
GTintronicDe novo--Trost2022 G
ANK2     2-1720-003chr4:
113912204-113912204
GAintronicDe novo--Trost2022 G
ANK2     3-0819-000chr4:
113918620-113918620
ACintronicDe novo--Trost2022 G
ANK2     MSSNG00427-003chr4:
113879199-113879199
CGintronicDe novo--Trost2022 G
ANK2     AU2697301 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
ANK2     2-1801-003chr4:
113795647-113795647
AGintronicDe novo--Trost2022 G
ANK2     MT_166.3chr4:
113855400-113855400
GCintronicDe novo--Trost2022 G
ANK2     1-0616-003chr4:
114048858-114048858
CGintronicDe novo--Trost2022 G
ANK2     3-0294-000chr4:
114072714-114072714
CGintronicDe novo--Trost2022 G
ANK2     AUTPGX_1020chr4:
114007060-114007060
TCintronicDe novo--Trost2022 G
ANK2     1-0555-003chr4:
114154443-114154443
AGintronicDe novo--Trost2022 G
Yuen2017 G
ANK2     MSSNG00120-003chr4:
114014284-114014284
GTintronicDe novo--Trost2022 G
ANK2     3-0153-000chr4:
113984359-113984359
ATintronicDe novo--Trost2022 G
ANK2     REACH000643chr4:
113987556-113987556
TAintronicDe novo--Trost2022 G
ANK2     SP0106458chr4:
113970774-113970774
CAintronicDe novo--Trost2022 G
ANK2     7-0423-003chr4:
113979712-113979712
CTintronicDe novo--Trost2022 G
ANK2     MT_33.3chr4:
114173502-114173502
AGintronicDe novo--Trost2022 G
ANK2     AU1725306chr4:
114162981-114162981
AGintronicDe novo--Trost2022 G
Yuen2017 G
ANK2     SP0169342chr4:
114179170-114179170
GCintronicDe novo--Trost2022 G
ANK2     MSSNG00133-003chr4:
114128473-114128473
TCintronicDe novo--Trost2022 G
ANK2     MSSNG00171-003chr4:
114166738-114166738
AGintronicDe novo--Trost2022 G
ANK2     3-0713-000chr4:
114123594-114123594
CAintronicDe novo--Trost2022 G
ANK2     MSSNG00045-003chr4:
114127560-114127560
CTintronicDe novo--Trost2022 G
ANK2     SMHC00856s000chr4:
114264171-114264175
AGGTGAexonicDe novononframeshift deletionNM_001148
NM_020977
NM_001127493
c.4123_4125del
c.4123_4125del
c.4096_4098del
p.1375_1375del
p.1375_1375del
p.1366_1366del
--Yuan2023 E
ANK2     MSSNG00421-004chr4:
114109994-114109994
GAintronicDe novo--Trost2022 G
ANK2     MSSNG00096-003chr4:
114114606-114114606
GTintronicDe novo--Trost2022 G
ANK2     1-1134-003chr4:
114270367-114270367
GAintronicDe novo--Trost2022 G
ANK2     1-1160-003chr4:
114292577-114292577
ACintronicDe novo--Trost2022 G
ANK2     2-0197-004chr4:
114240077-114240080
ACTGTCCTintronicDe novo--Trost2022 G
ANK2     3-0607-001chr4:
114269277-114269277
ACintronicDe novo--Trost2022 G
ANK2     4-0077-003chr4:
114184187-114184187
TCintronicDe novo--Trost2022 G
ANK2     M31980chr4:
114280136-114280136
GCexonicUnknownnonsynonymous SNVNM_001148c.G10362Cp.R3454S1.3862.0E-4Guo2018 T
ANK2     3-0650-000chr4:
114195248-114195248
GAintronicDe novo--Trost2022 G
ANK2     HN0148.p1chr4:
114276654-114276654
GA/GexonicMaternal--Guo2018 T
ANK2     SSC06477chr4:
114232545-114232545
CTexonicstopgainNM_001148
NM_020977
NM_001127493
c.C2683T
c.C2683T
c.C2620T
p.R895X
p.R895X
p.R874X
42.0-Antaki2022 GE
ANK2     SX0011.p1chr4:
114275847-114275847
GA/GexonicMaternal--Guo2018 T
ANK2     SP0015672chr4:
114203874-114203881
TGCAGATATexonicframeshift deletionNM_001148
NM_020977
NM_001127493
c.1926_1932del
c.1926_1932del
c.1863_1869del
p.M642fs
p.M642fs
p.M621fs
--Antaki2022 GE
Zhou2022 GE
ANK2     SX0011.p1chr4:
114279793-114279793
AGexonicMaternalnonsynonymous SNVNM_001148c.A10019Gp.D3340G2.6871.65E-5Guo2018 T
ANK2     SP0071978chr4:
114274454-114274455
GAGexonicDe novoframeshift deletionNM_001148c.4681delAp.K1561fs--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
ANK2     HEN0306.p1chr4:
114276880-114276880
TC/TexonicMaternal--Guo2018 T
ANK2     SSC11053chr4:
114251469-114251469
CTexonicstopgainNM_001148
NM_020977
NM_001127493
c.C2968T
c.C2968T
c.C2941T
p.R990X
p.R990X
p.R981X
41.0-Antaki2022 GE
ANK2     HEN0129.p1chr4:
114257060-114257060
CGexonicMaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C3438G
c.C3438G
c.C3411G
p.D1146E
p.D1146E
p.D1137E
20.23.296E-5Guo2018 T
ANK2     M26767chr4:
114177018-114177018
CTexonicMaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C1118T
c.C1118T
c.C1055T
p.A373V
p.A373V
p.A352V
37.04.119E-5Guo2018 T
Wang2016 T
ANK2     HEN0207.p1chr4:
114275524-114275524
CC/TexonicMaternal--Guo2018 T
ANK2     HEN0140.p1chr4:
114267077-114267077
CAexonicMaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C4270A
c.C4270A
c.C4243A
p.P1424T
p.P1424T
p.P1415T
28.9-Guo2018 T
ANK2     Mahjani2021:114chr4:
114238862-114238862
GAsplicingsplicing21.4-Mahjani2021 E
ANK2     HN0139.p1chr4:
114290873-114290873
CC/TexonicMaternal--Guo2018 T
ANK2     SP0035614chr4:
114280250-114280250
GGACexonicDe novoframeshift insertionNM_001148c.10476_10477insACp.L3492fs--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
ANK2     SD0010.p1chr4:
114279979-114279979
ACexonicMaternalnonsynonymous SNVNM_001148c.A10205Cp.K3402T4.841.649E-5Guo2018 T
ANK2     SSC04071chr4:
114275928-114275928
CTexonicstopgainNM_001148c.C6154Tp.R2052X42.0-Antaki2022 GE
ANK2     SX0034.p1chr4:
114294252-114294252
GAexonicMaternalnonsynonymous SNVNM_020977
NM_001148
NM_001127493
c.G5362A
c.G11617A
c.G5335A
p.D1788N
p.D3873N
p.D1779N
21.58.242E-6Guo2018 T
ANK2     1-0144-005chr4:
113917511-113917511
CTintronicDe novo--Trost2022 G
Yuen2017 G
ANK2     ACGC_M19795chr4:
114294285-114294285
GAexonicUnknownnonsynonymous SNVNM_020977
NM_001148
NM_001127493
c.G5395A
c.G11650A
c.G5368A
p.E1799K
p.E3884K
p.E1790K
32.08.24E-6Wang2020 T
ANK2     ACGC_M26960chr4:
114294285-114294285
GAexonicMaternalnonsynonymous SNVNM_020977
NM_001148
NM_001127493
c.G5395A
c.G11650A
c.G5368A
p.E1799K
p.E3884K
p.E1790K
32.08.24E-6Wang2020 T
ANK2     ACGC_GX0007.p1chr4:
114294285-114294285
GAexonicMaternalnonsynonymous SNVNM_020977
NM_001148
NM_001127493
c.G5395A
c.G11650A
c.G5368A
p.E1799K
p.E3884K
p.E1790K
32.08.24E-6Wang2020 T
ANK2     Stessman2017:ASD_1055chr4:
114195633-114195633
CTexonicUnknownnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C1511T
c.C1511T
c.C1448T
p.A504V
p.A504V
p.A483V
26.2-Stessman2017 T
ANK2     M32110chr4:
114251508-114251508
CTexonicDe novostopgainNM_001148
NM_020977
NM_001127493
c.C3007T
c.C3007T
c.C2980T
p.R1003X
p.R1003X
p.R994X
39.0-Guo2018 T
ANK2     2-1635-004chr4:
113881026-113881026
CTintronicDe novo--Trost2022 G
Yuen2017 G
ANK2     ACGC_M16165chr4:
114279630-114279630
GAexonicPaternalnonsynonymous SNVNM_001148c.G9856Ap.E3286K25.61.652E-5Wang2020 T
ANK2     ACGC_M20619chr4:
114279630-114279630
GAexonicMaternalnonsynonymous SNVNM_001148c.G9856Ap.E3286K25.61.652E-5Wang2020 T
ANK2     ACGC_M30585chr4:
114204012-114204012
TAexonicPaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.T2063A
c.T2063A
c.T2000A
p.I688N
p.I688N
p.I667N
19.531.654E-5Wang2020 T
ANK2     ACGC_M30343chr4:
114204012-114204012
TAexonicMaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.T2063A
c.T2063A
c.T2000A
p.I688N
p.I688N
p.I667N
19.531.654E-5Wang2020 T
ANK2     ACGC_M19628chr4:
114280419-114280419
CTexonicPaternalnonsynonymous SNVNM_001148c.C10645Tp.R3549C19.75-Wang2020 T
ANK2     ACGC_M17593chr4:
114277773-114277773
GAexonicPaternalnonsynonymous SNVNM_001148c.G7999Ap.E2667K29.4-Wang2020 T
ANK2     Li2017:16263chr4:
114278947-114278947
GTexonicUnknownnonsynonymous SNVNM_001148c.G9173Tp.R3058L20.9-Li2017 T
ANK2     TASC_219-2341-1chr4:
114294331-114294331
TCsplicingPaternalsplicing21.08.24E-6Wang2020 T
ANK2     ACGC_M21462chr4:
114294268-114294268
CAexonicPaternalnonsynonymous SNVNM_020977
NM_001148
NM_001127493
c.C5378A
c.C11633A
c.C5351A
p.P1793H
p.P3878H
p.P1784H
19.25-Wang2020 T
ANK2     Leuven2_61499703chr4:
114279630-114279630
GAexonicUnknownnonsynonymous SNVNM_001148c.G9856Ap.E3286K25.61.652E-5Wang2020 T
ANK2     ACGC_HEN0271.p1chr4:
114214674-114214674
GAexonicPaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.G2455A
c.G2455A
c.G2392A
p.E819K
p.E819K
p.E798K
35.0-Wang2020 T
ANK2     AGRE_04C26292chr4:
114294505-114294507
TGCTTTexonicPaternalnonframeshift substitutionNM_020977
NM_001148
NM_001127493
c.5505_5506TT
c.11760_11761TT
c.5478_5479TT
N/A
N/A
N/A
--Wang2020 T
ANK2     2-0098-003chr4:
114141437-114141437
GAintronicDe novo--Trost2022 G
Yuen2017 G
ANK2     ACGC_HEN0403.p1chr4:
114288832-114288837
GAAGACGexonicUnknownframeshift deletionNM_020977
NM_001148
NM_001127493
c.4889_4893del
c.11144_11148del
c.4862_4866del
p.E1630fs
p.E3715fs
p.E1621fs
--Wang2020 T
ANK2     SAGE_109.04chr4:
114275356-114275357
CACexonicUnknownframeshift deletionNM_001148c.5583delAp.A1861fs--Wang2020 T
ANK2     Leuven2_62100961chr4:
114203843-114203843
CTexonicUnknownnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C1894T
c.C1894T
c.C1831T
p.P632S
p.P632S
p.P611S
25.9-Wang2020 T
ANK2     Leuven_339052chr4:
114161698-114161698
CAexonicUnknownnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C751A
c.C751A
c.C688A
p.L251I
p.L251I
p.L230I
27.5-Wang2020 T
ANK2     12645_p1chr4:
114232545-114232545
CTexonicDe novostopgainNM_001148
NM_020977
NM_001127493
c.C2683T
c.C2683T
c.C2620T
p.R895X
p.R895X
p.R874X
42.0-Fu2022 E
ANK2     SAGE_380.03chr4:
114278920-114278920
GAexonicUnknownnonsynonymous SNVNM_001148c.G9146Ap.R3049Q25.9-Wang2020 T
ANK2     ACGC_GD0216.p1chr4:
114262891-114262891
CTexonicUnknownnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C3941T
c.C3941T
c.C3914T
p.A1314V
p.A1314V
p.A1305V
29.8-Wang2020 T
ANK2     Greenwood_Cms5792achr4:
114239712-114239712
CTexonicUnknownnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C2836T
c.C2836T
c.C2773T
p.R946C
p.R946C
p.R925C
25.59.72E-5Wang2020 T
ANK2     ACGC_4343chr4:
114294571-114294571
GCexonicUnknownnonsynonymous SNVNM_020977
NM_001148
NM_001127493
c.G5570C
c.G11825C
c.G5543C
p.R1857P
p.R3942P
p.R1848P
29.0-Wang2020 T
ANK2     Melbourne2_ASD_1055chr4:
114195633-114195633
CTexonicUnknownnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C1511T
c.C1511T
c.C1448T
p.A504V
p.A504V
p.A483V
26.2-Wang2020 T
ANK2     M08719 Complex Event; expand row to view variants  Unknownframeshift deletionNM_001148
NM_001148
c.8796delT
c.8795delC
p.P2932fs
p.P2932fs
--Guo2018 T
Wang2016 T
ANK2     TASC_217-14019-390chr4:
114177051-114177051
TGexonicUnknownnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.T1151G
c.T1151G
c.T1088G
p.L384R
p.L384R
p.L363R
28.3-Wang2020 T
ANK2     ACGC_M23644chr4:
114257199-114257199
CAexonicUnknownnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C3577A
c.C3577A
c.C3550A
p.R1193S
p.R1193S
p.R1184S
20.9-Wang2020 T
ANK2     SanDiego_S9L7Kchr4:
114251568-114251568
GAexonicUnknownnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.G3067A
c.G3067A
c.G3040A
p.G1023R
p.G1023R
p.G1014R
25.48.257E-6Wang2020 T
ANK2     SX0002.p1chr4:
114274622-114274622
TGexonicPaternalnonsynonymous SNVNM_001148c.T4848Gp.C1616W11.95-Guo2018 T
ANK2     SAGE_376.03chr4:
114254277-114254277
CTexonicUnknownnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C3292T
c.C3292T
c.C3265T
p.R1098C
p.R1098C
p.R1089C
18.961.647E-5Wang2020 T
ANK2     HEN0095.p1chr4:
114274362-114274362
GTexonicPaternalnonsynonymous SNVNM_001148c.G4588Tp.G1530C16.92-Guo2018 T
ANK2     TASC_217-14002-100chr4:
114161689-114161689
GAexonicUnknownnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.G742A
c.G742A
c.G679A
p.V248M
p.V248M
p.V227M
29.61.648E-5Wang2020 T
ANK2     MT_151chr4:
114294463-114294463
GAexonicMaternalnonsynonymous SNVNM_020977
NM_001148
NM_001127493
c.G5462A
c.G11717A
c.G5435A
p.R1821Q
p.R3906Q
p.R1812Q
24.52.473E-5Toma2013 E
ANK2     HEN0078.p1chr4:
114275283-114275283
GAexonicPaternalnonsynonymous SNVNM_001148c.G5509Ap.A1837T1.2792.0E-4Guo2018 T
ANK2     SAGE_481.101chr4:
114209631-114209631
GAexonicUnknownnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.G2266A
c.G2266A
c.G2203A
p.A756T
p.A756T
p.A735T
24.22.479E-5Wang2020 T
ANK2     JS0053.p1chr4:
114275205-114275205
CGexonicPaternalnonsynonymous SNVNM_001148c.C5431Gp.P1811A9.6612.474E-5Guo2018 T
ANK2     ACGC_SD0249.p1chr4:
114278946-114278946
CTexonicUnknownnonsynonymous SNVNM_001148c.C9172Tp.R3058C16.02.478E-5Wang2020 T
ANK2     AGRE_AU1272303chr4:
114275580-114275580
CTexonicUnknownnonsynonymous SNVNM_001148c.C5806Tp.R1936C17.391.649E-5Wang2020 T
ANK2     AGRE_AU1272301chr4:
114275580-114275580
CTexonicUnknownnonsynonymous SNVNM_001148c.C5806Tp.R1936C17.391.649E-5Wang2020 T
ANK2     HEN0096.p1chr4:
114257004-114257004
CGexonicPaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493
c.C3382G
c.C3382G
c.C3355G
p.L1128V
p.L1128V
p.L1119V
11.56-Guo2018 T
ANK2     AGRE_07C68522chr4:
114278572-114278572
CTexonicUnknownnonsynonymous SNVNM_001148c.C8798Tp.S2933F19.458.249E-6Wang2020 T
ANK2     AGRE_07C68521chr4:
114278572-114278572
CTexonicUnknownnonsynonymous SNVNM_001148c.C8798Tp.S2933F19.458.249E-6Wang2020 T
ANK2     Li2017:17593chr4:
114277773-114277773
GAexonicUnknownnonsynonymous SNVNM_001148c.G7999Ap.E2667K29.4-Li2017 T
ANK2     HN0138.p1chr4:
114294267-114294267
CC/TexonicPaternal--Guo2018 T
ANK2     SD0021.p1chr4:
114279294-114279294
AGexonicPaternalnonsynonymous SNVNM_001148c.A9520Gp.T3174A0.3388.259E-6Guo2018 T
ANK2     Gecz3_37836chr4:
114262966-114262966
CT