or
or
Exact

Results for "SCN2A"

Variant Events: 303

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
SCN2A     M01813chr2:
166179814-166179816		GAAGexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.1821_1822del
c.1821_1822del
c.1821_1822del		p.R607fs
p.R607fs
p.R607fs		--Guo2018 T
Li2017 T
Stessman2017 T
Wang2016 T
SCN2A     Zhang2023:ASD0221chr2:
166165305-166165305		GAsplicingDe novosplicing17.27-Zhang2023 G
SCN2A     Uddin2014:49chr2:
166201379-166201379		CAexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C2877A
c.C2877A
c.C2877A		p.C959X
p.C959X
p.C959X		42.0-Uddin2014 E
SCN2A     SP0033656chr2:
166170524-166170524		ACexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A1289C
c.A1289C
c.A1289C		p.E430A
p.E430A
p.E430A		27.9-Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
SCN2A     Zhang2023:ASD0063chr2:
166237705-166237707		GCTGexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.4550_4551del
c.4550_4551del
c.4550_4551del		p.A1517fs
p.A1517fs
p.A1517fs		--Zhang2023 G
SCN2A     SP0198912chr2:
166245445-166245445		TAexonicnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.T5129A
c.T5129A
c.T5129A		p.I1710N
p.I1710N
p.I1710N		16.7-Zhou2022 GE
SCN2A     Uddin2014:50chr2:
166210819-166210819		GTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.G3037T
c.G3037T
c.G3037T		p.G1013X
p.G1013X
p.G1013X		40.0-Uddin2014 E
SCN2A     SP0144511chr2:
166245192-166245192		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C4876T
c.C4876T
c.C4876T		p.R1626X
p.R1626X
p.R1626X		42.0-Trost2022 G
Zhou2022 GE
SCN2A     SP0184979chr2:
166245814-166245814		AAACCCexonicframeshift insertionNM_001040143
NM_001040142
NM_021007		c.5498_5499insACCC
c.5498_5499insACCC
c.5498_5499insACCC		p.K1833fs
p.K1833fs
p.K1833fs		--Zhou2022 GE
SCN2A     SP0237182chr2:
166245781-166245781		CGexonicnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C5465G
c.C5465G
c.C5465G		p.A1822G
p.A1822G
p.A1822G		19.18-Zhou2022 GE
SCN2A     M11451chr2:
166201068-166201068		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C2566T
c.C2566T
c.C2566T		p.R856X
p.R856X
p.R856X		41.0-Guo2018 T
Li2017 T
Stessman2017 T
Wang2016 T
SCN2A     M08856chr2:
166229733-166229733		ACsplicingDe novosplicing25.5-Guo2018 T
Li2017 T
Stessman2017 T
Wang2016 T
SCN2A     M15222chr2:
166229841-166229841		GCexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G3956C
c.G3956C
c.G3956C		p.R1319P
p.R1319P
p.R1319P		32.0-Guo2018 T
Li2017 T
Stessman2017 T
Stessman2017 T
Wang2016 T
SCN2A     M12434 Complex Event; expand row to view variants  De novoframeshift insertionNM_001040143
NM_001040142
NM_021007
NM_001040143
NM_001040142
NM_021007		c.229dupC
c.229dupC
c.229dupC
c.230dupC
c.230dupC
c.230dupC		p.V76fs
p.V76fs
p.V76fs
p.P77fs
p.P77fs
p.P77fs		--Guo2018 T
Li2017 T
Stessman2017 T
Stessman2017 T
Wang2016 T
SCN2A     ACGC_HEN0166.p1chr2:
166243281-166243282		ATAexonicUnknownframeshift deletionNM_001040143
NM_001040142
NM_021007		c.4578delT
c.4578delT
c.4578delT		p.D1526fs
p.D1526fs
p.D1526fs		--Wang2020 T
SCN2A     Zhang2023:ASD0326chr2:
166172167-166172167		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C1570T
c.C1570T
c.C1570T		p.R524X
p.R524X
p.R524X		29.7-Zhang2023 G
SCN2A     M21522 Complex Event; expand row to view variants  De novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.5711_5712del
c.5711_5712del
c.5711_5712del		p.Q1904fs
p.Q1904fs
p.Q1904fs		--Guo2018 T
Li2017 T
Stessman2017 T
Stessman2017 T
Wang2016 T
SCN2A     M21701chr2:
166167003-166167003		AGexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A868G
c.A868G
c.A868G		p.I290V
p.I290V
p.I290V		5.129-Guo2018 T
Li2017 T
Wang2016 T
SCN2A     AU3861302chr2:
166273480-166273480		GAintergenicDe novo--Yuen2017 G
SCN2A     M23243 Complex Event; expand row to view variants  De novoframeshift deletionNM_001040143
NM_001040142
NM_021007
NM_001040143
NM_001040142
NM_021007		c.4794_4795del
c.4794_4795del
c.4794_4795del
c.4795_4796del
c.4795_4796del
c.4795_4796del		p.D1598fs
p.D1598fs
p.D1598fs
p.F1599fs
p.F1599fs
p.F1599fs		--Guo2018 T
Li2017 T
Stessman2017 T
Stessman2017 T
Wang2016 T
SCN2A     M23149chr2:
166245634-166245634		CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C5318T
c.C5318T
c.C5318T		p.A1773V
p.A1773V
p.A1773V		18.44-Guo2018 T
Li2017 T
Wang2016 T
SCN2A     M3353chr2:
166172026-166172026		GTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G1429T
c.G1429T
c.G1429T		p.A477S
p.A477S
p.A477S		10.13-Li2017 T
Wang2016 T
SCN2A     18.s1chr2:
166231244-166231244		TGexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.T4022G
c.T4022G
c.T4022G		p.L1341R
p.L1341R
p.L1341R		21.8-An2014 E
Ben-Shalom2017 T
SCN2A     M17520chr2:
166210825-166210825		GAexonicPaternalnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G3043A
c.G3043A
c.G3043A		p.D1015N
p.D1015N
p.D1015N		9.165-Guo2018 T
Wang2016 T
SCN2A     2-1239-003chr2:
166198249-166198249		CTintronicDe novo--Yuen2016 G
Yuen2017 G
SCN2A     Husson2020:78chr2:
166179793-166179794		CCCexonicframeshift deletionNM_001040143
NM_001040142
NM_021007		c.1800delC
c.1800delC
c.1800delC		p.T600fs
p.T600fs
p.T600fs		--Husson2020 E
SCN2A     M21738chr2:
166221707-166221707		GAexonicPaternalnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G3454A
c.G3454A
c.G3454A		p.A1152T
p.A1152T
p.A1152T		11.95.767E-5Wang2016 T
SCN2A     SP0033956chr2:
166245441-166245441		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C5125T
c.C5125T
c.C5125T		p.Q1709X
p.Q1709X
p.Q1709X		43.0-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
SCN2A     SP0058702chr2:
166211058-166211060		CATCexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.3277_3278del
c.3277_3278del
c.3277_3278del		p.M1093fs
p.M1093fs
p.M1093fs		--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
SCN2A     SP0087255chr2:
166172158-166172160		GACGexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.1562_1563del
c.1562_1563del
c.1562_1563del		p.D521fs
p.D521fs
p.D521fs		--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
SCN2A     Wang2023:247chr2:
166237647-166237647		CAexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C4491A
c.C4491A
c.C4491A		p.Y1497X
p.Y1497X
p.Y1497X		42.0-Wang2023 E
SCN2A     AU024703chr2:
166246020-166246020		CTexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C5704T
c.C5704T
c.C5704T		p.R1902C
p.R1902C
p.R1902C		15.374.128E-5Stessman2017 T
SCN2A     SP0064892chr2:
166201068-166201068		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C2566T
c.C2566T
c.C2566T		p.R856X
p.R856X
p.R856X		41.0-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
SCN2A     SP0065831chr2:
166172167-166172167		CTexonicstopgainNM_001040143
NM_001040142
NM_021007		c.C1570T
c.C1570T
c.C1570T		p.R524X
p.R524X
p.R524X		29.7-Antaki2022 GE
Zhou2022 GE
SCN2A     14525.p1chr2:
166152367-166152367		GAexonicUnknown, De novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G34A
c.G34A
c.G34A		p.D12N
p.D12N
p.D12N		13.34-Ben-Shalom2017 T
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE
SCN2A     ASDFI_732chr2:
166152578-166152578		AGexonicUnknown, De novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A245G
c.A245G
c.A245G		p.D82G
p.D82G
p.D82G		19.73-Ben-Shalom2017 T
DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
SCN2A     SP0026028chr2:
166198965-166198965		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C2548T
c.C2548T
c.C2548T		p.R850X
p.R850X
p.R850X		41.0-Fu2022 E
Trost2022 G
Zhou2022 GE
SCN2A     AU026Achr2:
166170231-166170231		GAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G1136A
c.G1136A
c.G1136A		p.R379H
p.R379H
p.R379H		35.0-Ben-Shalom2017 T
DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SCN2A     DEASD_0143_001chr2:
166170231-166170231		GAexonicUnknown, De novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G1136A
c.G1136A
c.G1136A		p.R379H
p.R379H
p.R379H		35.0-Ben-Shalom2017 T
DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
SCN2A     SP0016101chr2:
166245634-166245634		CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C5318T
c.C5318T
c.C5318T		p.A1773V
p.A1773V
p.A1773V		18.44-Fu2022 E
Zhou2022 GE
SCN2A     SP0106019chr2:
166245454-166245454		CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C5138T
c.C5138T
c.C5138T		p.S1713F
p.S1713F
p.S1713F		16.95-Fu2022 E
Zhou2022 GE
SCN2A     SP0125430chr2:
166170486-166170486		ACexonicDe novosynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A1251C
c.A1251C
c.A1251C		p.I417I
p.I417I
p.I417I		--Fu2022 E
Trost2022 G
Zhou2022 GE
SCN2A     SP0120159chr2:
166170233-166170233		CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C1138T
c.C1138T
c.C1138T		p.L380F
p.L380F
p.L380F		25.4-Fu2022 E
Zhou2022 GE
SCN2A     10C109819chr2:
166183403-166183403		TTAexonicUnknown, De novoframeshift insertionNM_001040143
NM_001040142
NM_021007		c.2058_2059insA
c.2058_2059insA
c.2058_2059insA		p.S686fs
p.S686fs
p.S686fs		--Ben-Shalom2017 T
DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
SCN2A     13951.p1chr2:
166147847-166147847		ACintronicDe novo--Turner2016 G
SCN2A     SP0006503chr2:
166245697-166245697		ATexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A5381T
c.A5381T
c.A5381T		p.D1794V
p.D1794V
p.D1794V		17.42-Fu2022 E
Zhou2022 GE
SCN2A     SP0057026chr2:
166198965-166198965		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C2548T
c.C2548T
c.C2548T		p.R850X
p.R850X
p.R850X		41.0-Fu2022 E
Trost2022 G
Zhou2022 GE
SCN2A     Li2017:23243chr2:
166243497-166243499		ATTAexonicUnknownframeshift deletionNM_001040143
NM_001040142
NM_021007		c.4794_4795del
c.4794_4795del
c.4794_4795del		p.D1598fs
p.D1598fs
p.D1598fs		--Li2017 T
SCN2A     SP0107584chr2:
166152587-166152587		AGexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A254G
c.A254G
c.A254G		p.Y85C
p.Y85C
p.Y85C		17.36-Fu2022 E
Zhou2022 GE
SCN2A     SP0001506chr2:
166245588-166245588		ACexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A5272C
c.A5272C
c.A5272C		p.S1758R
p.S1758R
p.S1758R		18.09-Fu2022 E
Zhou2022 GE
SCN2A     14280.p1chr2:
166201311-166201311		CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C2809T
c.C2809T
c.C2809T		p.R937C
p.R937C
p.R937C		29.0-Ben-Shalom2017 T
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE
SCN2A     NDAR_INVTZ957VTW_wes1chr2:
166201312-166201312		GAexonicUnknown, De novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G2810A
c.G2810A
c.G2810A		p.R937H
p.R937H
p.R937H		33.0-Ben-Shalom2017 T
DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
SCN2A     11892.p1chr2:
166201379-166201379		CAexonicUnknown, De novostopgainNM_001040143
NM_001040142
NM_021007		c.C2877A
c.C2877A
c.C2877A		p.C959X
p.C959X
p.C959X		42.0-Ben-Shalom2017 T
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
SCN2A     539673010041-Cchr2:
166187925-166187925		GAexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.G2235A
c.G2235A
c.G2235A		p.W745X
p.W745X
p.W745X		41.0-Fu2022 E
SCN2A     SP0047209chr2:
166237644-166237647		ATACAexonicDe novononframeshift deletionNM_001040143
NM_001040142
NM_021007		c.4489_4491del
c.4489_4491del
c.4489_4491del		p.1497_1497del
p.1497_1497del
p.1497_1497del		--Fu2022 E
Trost2022 G
Zhou2022 GE
SCN2A     11114.p1chr2:
166210819-166210819		GTexonicUnknown, De novostopgainNM_001040143
NM_001040142
NM_021007		c.G3037T
c.G3037T
c.G3037T		p.G1013X
p.G1013X
p.G1013X		40.0-Ben-Shalom2017 T
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
SCN2A     SP0050379chr2:
166243345-166243345		CGexonicDe novosynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C4641G
c.C4641G
c.C4641G		p.T1547T
p.T1547T
p.T1547T		--Fu2022 E
Trost2022 G
Zhou2022 GE
SCN2A     Yin2020:137chr2:
166245865-166245865		AGexonicnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A5549G
c.A5549G
c.A5549G		p.D1850G
p.D1850G
p.D1850G		16.97-Yin2020 T
SCN2A     AU0918301chr2:
166229814-166229815		CTTexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.3929delC
c.3929delC
c.3929delC		p.A1310fs
p.A1310fs
p.A1310fs		--Stessman2017 T
Stessman2017 T
SCN2A     13544.p1chr2:
166231378-166231378		TCexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.T4156C
c.T4156C
c.T4156C		p.C1386R
p.C1386R
p.C1386R		15.44-Ben-Shalom2017 T
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE
SCN2A     AU031404chr2:
166110073-166110073		TAintronicDe novo--Trost2022 G
Yuen2017 G
SCN2A     SP0036869chr2:
166198890-166198891		ATAexonicframeshift deletionNM_001040143
NM_001040142
NM_021007		c.2474delT
c.2474delT
c.2474delT		p.I825fs
p.I825fs
p.I825fs		--Zhou2022 GE
SCN2A     13642.p1chr2:
166234111-166234111		CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C4259T
c.C4259T
c.C4259T		p.T1420M
p.T1420M
p.T1420M		28.0-Ben-Shalom2017 T
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Wilfert2021 G
Zhou2022 GE
SCN2A     AU031404chr2:
166115121-166115121		CTintronicDe novo--Trost2022 G
Yuen2017 G
SCN2A     AU2340301chr2:
166172125-166172129		CAGAACexonicframeshift deletionNM_001040143
NM_001040142
NM_021007		c.1529_1532del
c.1529_1532del
c.1529_1532del		p.Q510fs
p.Q510fs
p.Q510fs		--Zhou2022 GE
SCN2A     AN09714chr2:
166237699-166237699		CTexonicUnknown, De novostopgainNM_001040143
NM_001040142
NM_021007		c.C4543T
c.C4543T
c.C4543T		p.R1515X
p.R1515X
p.R1515X		43.0-Ben-Shalom2017 T
D’Gama2015 T
SCN2A     AN08043chr2:
166237708-166237708		GCsplicingUnknown, De novosplicing22.2-Ben-Shalom2017 T
D’Gama2015 T
SCN2A     DEASD_0262_001chr2:
166245137-166245137		ATsplicingUnknown, De novosplicing12.35-Ben-Shalom2017 T
DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
SCN2A     AN04166chr2:
166245546-166245546		GAexonicUnknown, De novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G5230A
c.G5230A
c.G5230A		p.G1744R
p.G1744R
p.G1744R		18.99-Ben-Shalom2017 T
D’Gama2015 T
SCN2A     MSSNG00386-003chr2:
166201203-166201203		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C2701T
c.C2701T
c.C2701T		p.Q901X
p.Q901X
p.Q901X		42.0-Trost2022 G
Zhou2022 GE
SCN2A     SP0021865chr2:
166201122-166201132		ATTGGCAATTCAexonicframeshift deletionNM_001040143
NM_001040142
NM_021007		c.2621_2630del
c.2621_2630del
c.2621_2630del		p.I874fs
p.I874fs
p.I874fs		--Zhou2022 GE
SCN2A     SAGE_BK765-01chr2:
166201122-166201132		ATTGGCAATTCAexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.2621_2630del
c.2621_2630del
c.2621_2630del		p.I874fs
p.I874fs
p.I874fs		--Wang2020 T
SCN2A     ACGC_M23243chr2:
166243497-166243499		ATTAexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.4794_4795del
c.4794_4795del
c.4794_4795del		p.D1598fs
p.D1598fs
p.D1598fs		--Wang2020 T
SCN2A     AGRE_AU0918301chr2:
166229813-166229814		GCGexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.3929delC
c.3929delC
c.3929delC		p.A1310fs
p.A1310fs
p.A1310fs		--Wang2020 T
SCN2A     ACGC_M32128chr2:
166170419-166170419		GCexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G1184C
c.G1184C
c.G1184C		p.R395P
p.R395P
p.R395P		27.3-Wang2020 T
SCN2A     ACGC_M21522chr2:
166246026-166246028		CAACexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.5711_5712del
c.5711_5712del
c.5711_5712del		p.Q1904fs
p.Q1904fs
p.Q1904fs		--Wang2020 T
SCN2A     ACGC_GX0205.p1chr2:
166170175-166170176		CACexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.1081delA
c.1081delA
c.1081delA		p.N361fs
p.N361fs
p.N361fs		--Wang2020 T
SCN2A     ACGC_M12434chr2:
166152561-166152561		GGCexonicDe novoframeshift insertionNM_001040143
NM_001040142
NM_021007		c.229dupC
c.229dupC
c.229dupC		p.V76fs
p.V76fs
p.V76fs		--Wang2020 T
SCN2A     ACGC_M01813chr2:
166179814-166179816		GAAGexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.1821_1822del
c.1821_1822del
c.1821_1822del		p.R607fs
p.R607fs
p.R607fs		--Wang2020 T
SCN2A     ACGC_HN0130.p1chr2:
166170536-166170538		CCACexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.1302_1303del
c.1302_1303del
c.1302_1303del		p.A434fs
p.A434fs
p.A434fs		--Wang2020 T
SCN2A     M03713chr2:
166223772-166223772		GAexonicMaternalnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G3566A
c.G3566A
c.G3566A		p.G1189D
p.G1189D
p.G1189D		19.476.592E-5Guo2018 T
SCN2A     TASC_220-9736-202chr2:
166164448-166164448		GAsplicingDe novosplicing25.6-Wang2020 T
SCN2A     M08590chr2:
166170611-166170611		ACexonicMaternalnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A1376C
c.A1376C
c.A1376C		p.E459A
p.E459A
p.E459A		12.716.125E-5Guo2018 T
SCN2A     SAGE_BK_681_01chr2:
166165305-166165305		GTsplicingDe novosplicing17.03-Wang2020 T
SCN2A     TASC_215-13221-2433chr2:
166245192-166245192		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C4876T
c.C4876T
c.C4876T		p.R1626X
p.R1626X
p.R1626X		42.0-Wang2020 T
SCN2A     1-0184-003chr2:
166289459-166289459		TCintergenicDe novo--Yuen2017 G
SCN2A     M27791chr2:
166245867-166245867		CTexonicMaternalnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C5551T
c.C5551T
c.C5551T		p.R1851W
p.R1851W
p.R1851W		14.21-Guo2018 T
SCN2A     ACGC_GX0234.p1chr2:
166234155-166234155		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C4303T
c.C4303T
c.C4303T		p.R1435X
p.R1435X
p.R1435X		40.0-Wang2020 T
SCN2A     M03303chr2:
166187887-166187887		GCexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G2197C
c.G2197C
c.G2197C		p.A733P
p.A733P
p.A733P		34.0-Guo2018 T
Wang2016 T
SCN2A     ACGC_M15222chr2:
166229841-166229841		GCexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G3956C
c.G3956C
c.G3956C		p.R1319P
p.R1319P
p.R1319P		32.0-Wang2020 T
SCN2A     ACGC_M30859chr2:
166201312-166201312		GAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G2810A
c.G2810A
c.G2810A		p.R937H
p.R937H
p.R937H		33.0-Wang2020 T
SCN2A     M03683chr2:
166165304-166165304		CC/TexonicMaternal--Guo2018 T
SCN2A     P0179chr2:
166237657-166237657		AGexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A4501G
c.A4501G
c.A4501G		p.M1501V
p.M1501V
p.M1501V		21.7-Xiong2019 ET
SCN2A     ACGC_M08856chr2:
166229733-166229733		ACsplicingDe novosplicing25.5-Wang2020 T
SCN2A     M20553chr2:
166165277-166165277		GC/GexonicMaternal--Guo2018 T
SCN2A     ACGC_GX0363.p1chr2:
166201266-166201266		CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C2764T
c.C2764T
c.C2764T		p.R922C
p.R922C
p.R922C		24.3-Wang2020 T
SCN2A     2-1251-003chr2:
166246205-166246205		CTexonicDe novosynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C5889T
c.C5889T
c.C5889T		p.T1963T
p.T1963T
p.T1963T		-1.654E-5Trost2022 G
Yuen2017 G
Zhou2022 GE
SCN2A     AU024105chr2:
166183579-166183579		TGintronicDe novo--Trost2022 G
Yuen2017 G
SCN2A     ACGC_M17441chr2:
166179813-166179813		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C1819T
c.C1819T
c.C1819T		p.R607X
p.R607X
p.R607X		39.08.245E-6Wang2020 T
SCN2A     Li2017:27906chr2:
166245838-166245838		CTexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C5522T
c.C5522T
c.C5522T		p.A1841V
p.A1841V
p.A1841V		14.76-Li2017 T
SCN2A     ACGC_M8805chr2:
166201311-166201311		CTexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C2809T
c.C2809T
c.C2809T		p.R937C
p.R937C
p.R937C		29.0-Wang2020 T
SCN2A     SAGE_110.04chr2:
166201197-166201197		GAexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G2695A
c.G2695A
c.G2695A		p.G899S
p.G899S
p.G899S		35.0-Wang2020 T
SCN2A     ACGC_SD0352.p1chr2:
166229768-166229768		GTexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G3883T
c.G3883T
c.G3883T		p.G1295C
p.G1295C
p.G1295C		32.0-Wang2020 T
SCN2A     ACGC_SX0088.p1chr2:
166226727-166226727		ATexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A3767T
c.A3767T
c.A3767T		p.E1256V
p.E1256V
p.E1256V		27.9-Wang2020 T
SCN2A     TASC_210-18213-302chr2:
166198962-166198962		CAexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C2545A
c.C2545A
c.C2545A		p.L849I
p.L849I
p.L849I		23.3-Wang2020 T
SCN2A     ACGC_M20573chr2:
166237664-166237666		AACATexonicUnknownframeshift substitutionNM_001040143
NM_001040142
NM_021007		c.4509_4510T
c.4509_4510T
c.4509_4510T		N/A
N/A
N/A		--Wang2020 T
SCN2A     AGRE_03C21394chr2:
166179685-166179685		GTexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G1691T
c.G1691T
c.G1691T		p.G564V
p.G564V
p.G564V		23.5-Wang2020 T
SCN2A     TASC_210-18213-303chr2:
166198962-166198962		CAexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C2545A
c.C2545A
c.C2545A		p.L849I
p.L849I
p.L849I		23.3-Wang2020 T
SCN2A     SSC03177chr2:
166201379-166201379		CAexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C2877A
c.C2877A
c.C2877A		p.C959X
p.C959X
p.C959X		42.0-Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G
SCN2A     ACGC_HEN0329.p1chr2:
166201068-166201068		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C2566T
c.C2566T
c.C2566T		p.R856X
p.R856X
p.R856X		41.0-Wang2020 T
SCN2A     Leuven_303758chr2:
166201362-166201362		GAexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G2860A
c.G2860A
c.G2860A		p.A954T
p.A954T
p.A954T		28.88.236E-6Wang2020 T
SCN2A     SSC11033chr2:
166201311-166201311		CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C2809T
c.C2809T
c.C2809T		p.R937C
p.R937C
p.R937C		29.0-Fu2022 E
Lim2017 E
Trost2022 G
SCN2A     Leuven_155630chr2:
166201362-166201362		GAexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G2860A
c.G2860A
c.G2860A		p.A954T
p.A954T
p.A954T		28.88.236E-6Wang2020 T
SCN2A     SSC08396chr2:
166231378-166231378		TCexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.T4156C
c.T4156C
c.T4156C		p.C1386R
p.C1386R
p.C1386R		15.44-Fu2022 E
Lim2017 E
Trost2022 G
SCN2A     Leuven_308280chr2:
166201068-166201068		CTexonicUnknownstopgainNM_001040143
NM_001040142
NM_021007		c.C2566T
c.C2566T
c.C2566T		p.R856X
p.R856X
p.R856X		41.0-Wang2020 T
SCN2A     SAGE_187.04chr2:
166201379-166201379		CAexonicUnknownstopgainNM_001040143
NM_001040142
NM_021007		c.C2877A
c.C2877A
c.C2877A		p.C959X
p.C959X
p.C959X		42.0-Wang2020 T
SCN2A     SSC00344chr2:
166210819-166210819		GTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.G3037T
c.G3037T
c.G3037T		p.G1013X
p.G1013X
p.G1013X		40.0-Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G
SCN2A     ACGC_M11451chr2:
166201068-166201068		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C2566T
c.C2566T
c.C2566T		p.R856X
p.R856X
p.R856X		41.0-Wang2020 T
SCN2A     ACGC_GD0098.p1chr2:
166198981-166198981		TCsplicingUnknownsplicing24.6-Wang2020 T
SCN2A     TASC_214-17091-1chr2:
166183395-166183395		CTexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C2050T
c.C2050T
c.C2050T		p.R684W
p.R684W
p.R684W		17.892.0E-4Wang2020 T
SCN2A     Wang2023:378chr2:
166172242-166172244		GAAGexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.1646_1647del
c.1646_1647del
c.1646_1647del		p.E549fs
p.E549fs
p.E549fs		--Wang2023 E
SCN2A     Melbourne2_ASD_1465chr2:
166246237-166246237		CTexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C5921T
c.C5921T
c.C5921T		p.S1974L
p.S1974L
p.S1974L		19.3-Wang2020 T
SCN2A     Lim2017:36783chr2:
166152367-166152367		GAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G34A
c.G34A
c.G34A		p.D12N
p.D12N
p.D12N		13.34-Lim2017 E
SCN2A     Leuven2_80954241chr2:
166201362-166201362		GAexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G2860A
c.G2860A
c.G2860A		p.A954T
p.A954T
p.A954T		28.88.236E-6Wang2020 T
SCN2A     AGRE_AU024703chr2:
166246020-166246020		CTexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C5704T
c.C5704T
c.C5704T		p.R1902C
p.R1902C
p.R1902C		15.374.128E-5Wang2020 T
SCN2A     ACGC_M10099chr2:
166170189-166170189		CTexonicMaternalnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C1094T
c.C1094T
c.C1094T		p.T365M
p.T365M
p.T365M		26.7-Wang2020 T
SCN2A     ACGC_HEN468.p1chr2:
166179921-166179921		ATexonicUnknownstopgainNM_001040143
NM_001040142
NM_021007		c.A1927T
c.A1927T
c.A1927T		p.K643X
p.K643X
p.K643X		41.0-Wang2020 T
SCN2A     1-0578-003chr2:
166179813-166179813		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C1819T
c.C1819T
c.C1819T		p.R607X
p.R607X
p.R607X		39.08.245E-6Wang2020 T
SCN2A     ACGC_M19672chr2:
166170189-166170189		CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C1094T
c.C1094T
c.C1094T		p.T365M
p.T365M
p.T365M		26.7-Wang2020 T
SCN2A     SAGE_557.03chr2:
166201379-166201379		CAexonicUnknownstopgainNM_001040143
NM_001040142
NM_021007		c.C2877A
c.C2877A
c.C2877A		p.C959X
p.C959X
p.C959X		42.0-Wang2020 T
SCN2A     1-0264-005 Complex Event; expand row to view variants  Unknown, De novostopgain, synonymous SNVNM_001040143
NM_001040142
NM_021007
NM_001040143
NM_001040142
NM_021007		c.G5230T
c.G5230T
c.G5230T
c.A5229G
c.A5229G
c.A5229G		p.G1744X
p.G1744X
p.G1744X
p.K1743K
p.K1743K
p.K1743K		44.05.0E-4Trost2022 G
Trost2022 G
Wang2020 T
Zhou2022 GE
Zhou2022 GE
SCN2A     ACGC_SD0305.p1chr2:
166226663-166226663		CTexonicUnknownstopgainNM_001040143
NM_001040142
NM_021007		c.C3703T
c.C3703T
c.C3703T		p.R1235X
p.R1235X
p.R1235X		43.0-Wang2020 T
SCN2A     tavassoli2014_sample1chr2:
166164448-166164448		GAsplicingDe novosplicing25.6-Wang2020 T
SCN2A     ACGC_SX0026.p1chr2:
166165305-166165305		GAsplicingUnknownsplicing17.27-Wang2020 T
SCN2A     Wang2023:407chr2:
166170174-166170174		CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C1079T
c.C1079T
c.C1079T		p.P360L
p.P360L
p.P360L		33.0-Wang2023 E
SCN2A     ACGC_GX0569.p1chr2:
166165305-166165305		GAsplicingUnknownsplicing17.27-Wang2020 T
SCN2A     GX0080.p1chr2:
166179898-166179898		TC/TexonicPaternal--Guo2018 T
SCN2A     GX0356.p1chr2:
166152542-166152542		CTexonicPaternalnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C209T
c.C209T
c.C209T		p.P70L
p.P70L
p.P70L		22.6-Guo2018 T
SCN2A     GX0152.p1chr2:
166223867-166223867		AGexonicPaternalnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A3661G
c.A3661G
c.A3661G		p.S1221G
p.S1221G
p.S1221G		26.5-Guo2018 T
SCN2A     HN0049.p1chr2:
166210825-166210825		GAexonicPaternalnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G3043A
c.G3043A
c.G3043A		p.D1015N
p.D1015N
p.D1015N		9.165-Guo2018 T
SCN2A     REACH000569chr2:
166107767-166107767		GAintronicDe novo--Trost2022 G
SCN2A     SP0037822chr2:
166187917-166187917		ATexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.A2227T
c.A2227T
c.A2227T		p.K743X
p.K743X
p.K743X		40.0-Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
SCN2A     3-0477-000chr2:
166125689-166125689		GAintronicDe novo--Trost2022 G
SCN2A     MT_20.3chr2:
166098189-166098189		TCintronicDe novo--Trost2022 G
SCN2A     GX0019.p1chr2:
166246069-166246069		GAexonicPaternalnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G5753A
c.G5753A
c.G5753A		p.R1918H
p.R1918H
p.R1918H		16.794.957E-5Guo2018 T
SCN2A     MSSNG00020-004chr2:
166195866-166195866		TAintronicDe novo--Trost2022 G
SCN2A     3-0460-000chr2:
166207625-166207625		CTintronicDe novo--Trost2022 G
SCN2A     MSSNG00057-003chr2:
166168181-166168181		GCintronicDe novo--Trost2022 G
SCN2A     MSSNG00201-003chr2:
166178788-166178788		GCintronicDe novo--Trost2022 G
SCN2A     AU2463301chr2:
166163771-166163771		CTintronicDe novo--Trost2022 G
SCN2A     SP0034314chr2:
166165928-166165928		ATexonicDe novosynonymous SNVNM_001040142
NM_021007		c.A672T
c.A672T		p.A224A
p.A224A		--Trost2022 G
SCN2A     3-0102-000chr2:
166137834-166137834		ATintronicDe novo--Trost2022 G
SCN2A     MSSNG00226-003chr2:
166149310-166149310		TGintronicDe novo--Trost2022 G
SCN2A     SMHC00929s000chr2:
166201064-166201064		GAsplicingDe novosplicing23.5-Yuan2023 E
SCN2A     SP0005630chr2:
166234155-166234155		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C4303T
c.C4303T
c.C4303T		p.R1435X
p.R1435X
p.R1435X		40.0-Trost2022 G
SCN2A     SMHC01560s000chr2:
166170419-166170419		GAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G1184A
c.G1184A
c.G1184A		p.R395H
p.R395H
p.R395H		33.0-Yuan2023 E
SCN2A     MT_183.4chr2:
166208197-166208197		ACintronicDe novo--Trost2022 G
SCN2A     5-5065-003chr2:
166213095-166213095		TCintronicDe novo--Trost2022 G
SCN2A     AU4013303chr2:
166156738-166156738		AGintronicDe novo--Trost2022 G
Yuen2017 G
SCN2A     Wang2023:458chr2:
166172131-166172131		GTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.G1534T
c.G1534T
c.G1534T		p.E512X
p.E512X
p.E512X		38.0-Wang2023 E
SCN2A     ACGC_M10009chr2:
166223735-166223735		CTexonicMaternalnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C3529T
c.C3529T
c.C3529T		p.R1177W
p.R1177W
p.R1177W		20.11.649E-5Wang2020 T
SCN2A     Mahjani2021:88chr2:
166243526-166243526		GAexonicnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G4822A
c.G4822A
c.G4822A		p.G1608R
p.G1608R
p.G1608R		28.5-Mahjani2021 E
SCN2A     Cherot2017:4chr2:
166231381-166231383		AAAAexonicUnknownframeshift deletionNM_001040143
NM_001040142
NM_021007		c.4160_4161del
c.4160_4161del
c.4160_4161del		p.K1387fs
p.K1387fs
p.K1387fs		--Cherot2017 E
SCN2A     5006_202chr2:
166164448-166164448		GAsplicingDe novosplicing25.6-Lim2017 E
Willsey2013 E
SCN2A     AU_349chr2:
166201311-166201311		CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C2809T
c.C2809T
c.C2809T		p.R937C
p.R937C
p.R937C		29.0-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SCN2A     3-0261-000chr2:
166237202-166237202		GCexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G4409C
c.G4409C
c.G4409C		p.G1470A
p.G1470A
p.G1470A		26.1-Tammimies2015 E
Tammimies2015 E
Zhou2022 GE
SCN2A     M17441chr2:
166179813-166179813		CTexonicUnknown, De novostopgainNM_001040143
NM_001040142
NM_021007		c.C1819T
c.C1819T
c.C1819T		p.R607X
p.R607X
p.R607X		39.08.245E-6Guo2018 T
Stessman2017 T
Stessman2017 T
Wang2016 T
SCN2A     140644chr2:
166179863-166179863		CCAexonicDe novoframeshift insertionNM_001040143
NM_001040142
NM_021007		c.1870dupA
c.1870dupA
c.1870dupA		p.S623fs
p.S623fs
p.S623fs		--Fu2022 E
SCN2A     DEASD_2055_001chr2:
166164420-166164421		ACAexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.450delC
c.450delC
c.450delC		p.N150fs
p.N150fs
p.N150fs		--Fu2022 E
SCN2A     36783chr2:
166152367-166152367		GAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G34A
c.G34A
c.G34A		p.D12N
p.D12N
p.D12N		13.34-Fu2022 E
Trost2022 G
SCN2A     TRE_1766chr2:
166201292-166201292		CAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C2790A
c.C2790A
c.C2790A		p.H930Q
p.H930Q
p.H930Q		20.5-Fu2022 E
SCN2A     1-0551-004chr2:
166196717-166196717		CGintronicDe novo--Trost2022 G
Yuen2017 G
SCN2A     M08704chr2:
166153563-166153563		CTexonicUnknownstopgainNM_001040143
NM_001040142
NM_021007		c.C304T
c.C304T
c.C304T		p.R102X
p.R102X
p.R102X		39.0-Guo2018 T
SCN2A     AU2293302chr2:
166203834-166203834		CTintronicDe novo--Trost2022 G
Yuen2017 G
SCN2A     M19672chr2:
166170189-166170189		CTexonicUnknown, De novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C1094T
c.C1094T
c.C1094T		p.T365M
p.T365M
p.T365M		26.7-Guo2018 T
Stessman2017 T
Wang2016 T
SCN2A     G01-GEA-212-HIchr2:
166245220-166245220		GAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G4904A
c.G4904A
c.G4904A		p.R1635Q
p.R1635Q
p.R1635Q		18.57-Fu2022 E
SCN2A     3C024chr2:
166231426-166231426		ATexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.A4204T
c.A4204T
c.A4204T		p.K1402X
p.K1402X
p.K1402X		43.0-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SCN2A     Stessman2017:ASD_1465chr2:
166246237-166246237		CTexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C5921T
c.C5921T
c.C5921T		p.S1974L
p.S1974L
p.S1974L		19.3-Stessman2017 T
SCN2A     2-1337-003chr2:
166177125-166177125		TAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SCN2A     HN0130.p1chr2:
166170536-166170538		CCACexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.1302_1303del
c.1302_1303del
c.1302_1303del		p.A434fs
p.A434fs
p.A434fs		--Guo2018 T
SCN2A     GX0205.p1chr2:
166170175-166170176		CACexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.1081delA
c.1081delA
c.1081delA		p.N361fs
p.N361fs
p.N361fs		--Guo2018 T
SCN2A     GX0234.p1chr2:
166234155-166234155		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C4303T
c.C4303T
c.C4303T		p.R1435X
p.R1435X
p.R1435X		40.0-Guo2018 T
SCN2A     4050_16mrchr2:
166226780-166226780		TGexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.T3820G
c.T3820G
c.T3820G		p.W1274G
p.W1274G
p.W1274G		23.5-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SCN2A     2-1291-003chr2:
166152415-166152415		CTexonicInheritednonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C82T
c.C82T
c.C82T		p.R28C
p.R28C
p.R28C		23.72.0E-4