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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		CGexonicUnknown, De novononsynonymous 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		CTexonicUnknown, De novostopgainNM_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		CGexonicUnknown, De novononsynonymous 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		CTexonicUnknown, De novostopgainNM_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		CTexonicUnknown, De novostopgainNM_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