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Results for "CNTNAP2"

Variant Events: 220

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
CNTNAP2     1-0487-003chr7:
146720427-146720427		TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
CNTNAP2     7-0273-003chr7:
147493754-147493754		AGintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     7-0100-004chr7:
146932119-146932119		GAintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     1-0368-004chr7:
147490259-147490259		CTintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     PN400524chr7:
147336338-147336338		GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     Li2017:23062chr7:
147815222-147815222		AGexonicUnknownnonsynonymous SNVNM_014141c.A2396Gp.N799S19.45-Li2017 T
CNTNAP2     2-0273-003chr7:
147329307-147329308		ATAintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     Li2017:23082chr7:
146805341-146805341		CTexonicUnknownnonsynonymous SNVNM_014141c.C653Tp.T218M17.293.302E-5Li2017 T
CNTNAP2     1-0484-003chr7:
145915359-145915359		TCintronicDe novo--Yuen2017 G
CNTNAP2     2-0256-004chr7:
145903449-145903449		CTintronicDe novo--Yuen2017 G
CNTNAP2     PN400412chr7:
147336338-147336338		GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     AU066206chr7:
146371397-146371397		CTintronicDe novo--Yuen2017 G
CNTNAP2     Murdoch2015:1chr7:
146818176-146818176		GAexonicUnknownnonsynonymous SNVNM_014141c.G860Ap.S287N12.895.767E-5Murdoch2015 T
CNTNAP2     Murdoch2015:4chr7:
147815302-147815302		TGexonicUnknownnonsynonymous SNVNM_014141c.T2476Gp.Y826D24.4-Murdoch2015 T
CNTNAP2     Murdoch2015:5chr7:
147844726-147844726		CTexonicUnknownnonsynonymous SNVNM_014141c.C2698Tp.R900W25.43.296E-5Murdoch2015 T
CNTNAP2     Murdoch2015:2chr7:
146818140-146818140		AGexonicUnknownnonsynonymous SNVNM_014141c.A824Gp.H275R24.5-Murdoch2015 T
CNTNAP2     2-0149-004chr7:
146536632-146536632		TGintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     Murdoch2015:3chr7:
148080939-148080939		CTexonicUnknownnonsynonymous SNVNM_014141c.C3674Tp.S1225L15.368.598E-6Murdoch2015 T
CNTNAP2     Murdoch2015:8chr7:
147674986-147674986		AGexonicUnknownnonsynonymous SNVNM_014141c.A2288Gp.D763G21.81.647E-5Murdoch2015 T
CNTNAP2     Murdoch2015:9chr7:
146471423-146471423		CGexonicUnknownnonsynonymous SNVNM_014141c.C158Gp.S53C15.18.305E-6Murdoch2015 T
CNTNAP2     Murdoch2015:6chr7:
147914500-147914500		CTexonicUnknownnonsynonymous SNVNM_014141c.C3131Tp.P1044L4.6764.948E-5Murdoch2015 T
CNTNAP2     AU058105chr7:
146208335-146208335		TGintronicDe novo--Yuen2017 G
CNTNAP2     Murdoch2015:7chr7:
147964213-147964213		TCexonicUnknownnonsynonymous SNVNM_014141c.T3470Cp.V1157A21.4-Murdoch2015 T
CNTNAP2     Murdoch2015:12chr7:
147600681-147600681		TCexonicUnknownnonsynonymous SNVNM_014141c.T2123Cp.V708A24.35.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:13chr7:
147926795-147926795		TCexonicUnknownnonsynonymous SNVNM_014141c.T3305Cp.V1102A9.547.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:10chr7:
146536932-146536932		AGexonicUnknownnonsynonymous SNVNM_014141c.A338Gp.Y113C21.98.244E-5Murdoch2015 T
CNTNAP2     AU4356302chr7:
146656150-146656150		CTintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     Murdoch2015:11chr7:
146825806-146825806		TCexonicUnknownnonsynonymous SNVNM_014141c.T961Cp.F321L6.607-Murdoch2015 T
CNTNAP2     Murdoch2015:16chr7:
146741012-146741012		AGexonicUnknownnonsynonymous SNVNM_014141c.A416Gp.N139S16.341.648E-5Murdoch2015 T
CNTNAP2     Murdoch2015:17chr7:
147844685-147844685		CTexonicUnknownnonsynonymous SNVNM_014141c.C2657Tp.T886I12.65-Murdoch2015 T
CNTNAP2     Murdoch2015:14chr7:
147914449-147914449		GCexonicUnknownnonsynonymous SNVNM_014141c.G3080Cp.R1027T10.471.648E-5Murdoch2015 T
CNTNAP2     Murdoch2015:15chr7:
146825896-146825896		GAexonicUnknownnonsynonymous SNVNM_014141c.G1051Ap.A351T36.04.12E-5Murdoch2015 T
CNTNAP2     Murdoch2015:20chr7:
146829473-146829473		AGexonicUnknownnonsynonymous SNVNM_014141c.A1220Gp.N407S9.129.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:21chr7:
146829505-146829505		AGexonicUnknownnonsynonymous SNVNM_014141c.A1252Gp.N418D8.6668.254E-6Murdoch2015 T
CNTNAP2     Murdoch2015:18chr7:
148106525-148106525		TCexonicUnknownnonsynonymous SNVNM_014141c.T3758Cp.I1253T16.71.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:19chr7:
147600763-147600763		CGexonicUnknownnonsynonymous SNVNM_014141c.C2205Gp.N735K28.0-Murdoch2015 T
CNTNAP2     Murdoch2015:24chr7:
147844634-147844634		TCexonicUnknownnonsynonymous SNVNM_014141c.T2606Cp.I869T16.483.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:25chr7:
147844634-147844634		TCexonicUnknownnonsynonymous SNVNM_014141c.T2606Cp.I869T16.483.0E-4Murdoch2015 T
CNTNAP2     2-0278-003chr7:
146796410-146796410		TCintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     Murdoch2015:22chr7:
147600705-147600705		AGexonicUnknownnonsynonymous SNVNM_014141c.A2147Gp.Y716C14.632.486E-5Murdoch2015 T
CNTNAP2     Murdoch2015:23chr7:
147600749-147600749		GAexonicUnknownnonsynonymous SNVNM_014141c.G2191Ap.G731S29.78.433E-6Murdoch2015 T
CNTNAP2     Murdoch2015:28chr7:
147926846-147926846		GAexonicUnknownnonsynonymous SNVNM_014141c.G3356Ap.R1119H23.52.473E-5Murdoch2015 T
CNTNAP2     Murdoch2015:29chr7:
147964128-147964128		GCexonicUnknownnonsynonymous SNVNM_014141c.G3385Cp.D1129H15.798.237E-6Murdoch2015 T
CNTNAP2     Murdoch2015:26chr7:
147844634-147844634		TCexonicUnknownnonsynonymous SNVNM_014141c.T2606Cp.I869T16.483.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:27chr7:
147844745-147844745		GAexonicUnknownnonsynonymous SNVNM_014141c.G2717Ap.R906H17.624.123E-5Murdoch2015 T
CNTNAP2     Murdoch2015:32chr7:
148112545-148112545		CTexonicUnknownnonsynonymous SNVNM_014141c.C3833Tp.T1278I6.3672.484E-5Murdoch2015 T
CNTNAP2     Murdoch2015:33chr7:
146471465-146471465		AGexonicUnknownnonsynonymous SNVNM_014141c.A200Gp.K67R1.1711.733E-5Murdoch2015 T
CNTNAP2     Murdoch2015:30chr7:
148080944-148080944		GAexonicUnknownnonsynonymous SNVNM_014141c.G3679Ap.A1227T16.478.636E-6Murdoch2015 T
CNTNAP2     Murdoch2015:31chr7:
148106525-148106525		TCexonicUnknownnonsynonymous SNVNM_014141c.T3758Cp.I1253T16.71.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:36chr7:
146829419-146829419		GAexonicUnknownnonsynonymous SNVNM_014141c.G1166Ap.R389Q12.292.0E-4Murdoch2015 T
CNTNAP2     AU3782303chr7:
146796007-146796007		CAintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     Murdoch2015:37chr7:
146829500-146829500		CTexonicUnknownnonsynonymous SNVNM_014141c.C1247Tp.A416V12.250.0018Murdoch2015 T
CNTNAP2     Murdoch2015:34chr7:
146536934-146536934		CTexonicUnknownnonsynonymous SNVNM_014141c.C340Tp.R114W19.993.298E-5Murdoch2015 T
CNTNAP2     Murdoch2015:35chr7:
146536994-146536994		TGexonicUnknownnonsynonymous SNVNM_014141c.T400Gp.W134G14.212.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:40chr7:
147675079-147675079		AGexonicUnknownnonsynonymous SNVNM_014141c.A2381Gp.D794G25.18.254E-6Murdoch2015 T
CNTNAP2     1-0604-003chr7:
146091132-146091132		CTintronicDe novo--Yuen2017 G
CNTNAP2     Murdoch2015:41chr7:
147815275-147815275		GAexonicUnknownnonsynonymous SNVNM_014141c.G2449Ap.G817R29.03.295E-5Murdoch2015 T
CNTNAP2     Murdoch2015:38chr7:
147092805-147092805		GAexonicUnknownnonsynonymous SNVNM_014141c.G1603Ap.E535K13.832.474E-5Murdoch2015 T
CNTNAP2     Murdoch2015:39chr7:
147675066-147675066		CTexonicUnknownnonsynonymous SNVNM_014141c.C2368Tp.R790C25.11.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:44chr7:
147964128-147964128		GCexonicUnknownnonsynonymous SNVNM_014141c.G3385Cp.D1129H15.798.237E-6Murdoch2015 T
CNTNAP2     PN400264chr7:
147336338-147336338		GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     Murdoch2015:45chr7:
148080944-148080944		GAexonicUnknownnonsynonymous SNVNM_014141c.G3679Ap.A1227T16.478.636E-6Murdoch2015 T
CNTNAP2     Murdoch2015:42chr7:
147844595-147844595		TAexonicUnknownnonsynonymous SNVNM_014141c.T2567Ap.V856E24.6-Murdoch2015 T
CNTNAP2     Murdoch2015:43chr7:
147844634-147844634		TCexonicUnknownnonsynonymous SNVNM_014141c.T2606Cp.I869T16.483.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:48chr7:
148112631-148112631		GAexonicUnknownnonsynonymous SNVNM_014141c.G3919Ap.A1307T25.85.768E-5Murdoch2015 T
CNTNAP2     Murdoch2015:46chr7:
148106525-148106525		TCexonicUnknownnonsynonymous SNVNM_014141c.T3758Cp.I1253T16.71.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:47chr7:
148112545-148112545		CTexonicUnknownnonsynonymous SNVNM_014141c.C3833Tp.T1278I6.3672.484E-5Murdoch2015 T
CNTNAP2     A09019-1chr7:
146471417-146471417		CGexonicUnknownnonsynonymous SNVNM_014141c.C152Gp.S51C23.2-Li2017 T
CNTNAP2     1-0591-003chr7:
147564863-147564863		GTintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     2-1605-003chr7:
147321475-147321475		TTTATAintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     1-0564-003chr7:
146524105-146524105		AGintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     SP0028519chr7:
147914427-147914427		CTexonicDe novostopgainNM_014141c.C3058Tp.Q1020X39.0-Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
CNTNAP2     7-0102-003chr7:
146359965-146359965		CTintronicDe novo--Yuen2017 G
CNTNAP2     AU4239301chr7:
146481913-146481913		CTintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     2-1525-003chr7:
147467228-147467228		TCintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     1-0046-003chr7:
146833088-146833088		GAintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     1-0465-003chr7:
146796293-146796293		AGintronicDe novo--Yuen2017 G
CNTNAP2     PN400424chr7:
147336338-147336338		GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     PN400267chr7:
147336338-147336338		GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     3-0437-000chr7:
146984568-146984568		CAintronicDe novo--Trost2022 G
Yuen2016 G
CNTNAP2     AU053503 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
CNTNAP2     1-0032-003chr7:
146388346-146388346		TCintronicDe novo--Yuen2017 G
CNTNAP2     PN400533chr7:
147336338-147336338		GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     SP0083322chr7:
146805343-146805343		TAexonicDe novononsynonymous SNVNM_014141c.T655Ap.S219T8.53-Fu2022 E
Trost2022 G
Zhou2022 GE
CNTNAP2     SP0098450chr7:
148112574-148112574		CTexonicDe novononsynonymous SNVNM_014141c.C3862Tp.R1288C29.65.778E-5Fu2022 E
Trost2022 G
Zhou2022 GE
CNTNAP2     MSSNG00351-004chr7:
146618664-146618664		GAintronicDe novo--Trost2022 G
CNTNAP2     4-0043-003chr7:
146629366-146629366		GTintronicDe novo--Trost2022 G
CNTNAP2     AU3889305chr7:
146577028-146577028		TGintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     3-0467-000chr7:
146578423-146578423		TGintronicDe novo--Trost2022 G
CNTNAP2     5-5031-004chr7:
146581291-146581299		TGATATGTGTintronicDe novo--Trost2022 G
CNTNAP2     SP0068911chr7:
146825982-146825982		TCintronicDe novo--Fu2022 E
CNTNAP2     AU055603chr7:
146496154-146496154		GTintronicDe novo--Trost2022 G
CNTNAP2     SP0071187chr7:
146537077-146537077		TCintronicDe novo--Fu2022 E
CNTNAP2     3-0067-000chr7:
146538207-146538207		CAintronicDe novo--Trost2022 G
CNTNAP2     SJD_50.3chr7:
146474829-146474829		GCintronicDe novo--Trost2022 G
CNTNAP2     MT_161.3chr7:
146750687-146750687		TCintronicDe novo--Trost2022 G
CNTNAP2     PN400272chr7:
147336338-147336338		GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     3-0832-000chr7:
146760101-146760101		GAintronicDe novo--Trost2022 G
CNTNAP2     SJD_22.3chr7:
146691178-146691178		AGintronicDe novo--Trost2022 G
CNTNAP2     3-0721-000chr7:
146719118-146719118		ATintronicDe novo--Trost2022 G
CNTNAP2     AU004403chr7:
146664172-146664172		GTintronicDe novo--Trost2022 G
CNTNAP2     2-1169-004chr7:
148249097-148249097		TCintergenicDe novo--Yuen2017 G
CNTNAP2     MT_86.3chr7:
146673847-146673847		CTintronicDe novo--Trost2022 G
CNTNAP2     7-0309-004chr7:
146631026-146631026		GAintronicDe novo--Trost2022 G
CNTNAP2     3-0835-000chr7:
146654373-146654373		AGintronicDe novo--Trost2022 G
CNTNAP2     SJD_58.4chr7:
146823822-146823822		CTintronicDe novo--Trost2022 G
CNTNAP2     1-0473-003chr7:
147413074-147413075		CTCintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     E3F6Y_01chr7:
146847768-146847768		GAintronicDe novo--Trost2022 G
CNTNAP2     1-0465-003Achr7:
146796293-146796293		AGintronicDe novo--Trost2022 G
CNTNAP2     2-1097-003chr7:
146822043-146822044		GCATintronicDe novo--Trost2022 G
CNTNAP2     MSSNG00369-003chr7:
146769289-146769289		CTintronicDe novo--Trost2022 G
CNTNAP2     MSSNG00037-003chr7:
146761114-146761114		CGintronicDe novo--Trost2022 G
CNTNAP2     3-0146-000chr7:
146767341-146767341		TCintronicDe novo--Trost2022 G
CNTNAP2     5-5123-003chr7:
146943877-146943877		TGintronicDe novo--Trost2022 G
CNTNAP2     3-0666-001chr7:
146947992-146947992		GAintronicDe novo--Trost2022 G
CNTNAP2     4-0073-003chr7:
146941913-146941913		TCintronicDe novo--Trost2022 G
CNTNAP2     MSSNG00121-003chr7:
146943161-146943161		CCATintronicDe novo--Trost2022 G
CNTNAP2     AU2320301chr7:
146908837-146908837		GGAintronicDe novo--Trost2022 G
CNTNAP2     548chr7:
146536803-146536803		GCexonicPaternalnonsynonymous SNVNM_014141c.G209Cp.G70A26.48.27E-6Wen2017 E
CNTNAP2     AU2310301chr7:
146938270-146938270		CAintronicDe novo--Trost2022 G
CNTNAP2     2-1775-003chr7:
146874171-146874174		TATATintronicDe novo--Trost2022 G
CNTNAP2     MSSNG00257-004chr7:
146905817-146905819		CTGCintronicDe novo--Trost2022 G
CNTNAP2     MSSNG00431-003chr7:
146990325-146990325		TCintronicDe novo--Trost2022 G
CNTNAP2     SP0197683chr7:
146997364-146997364		GCexonicDe novononsynonymous SNVNM_014141c.G1480Cp.E494Q13.48-Trost2022 G
CNTNAP2     13069.p1chr7:
147595528-147595528		CGintronicDe novo--Turner2016 G
CNTNAP2     1031chr7:
146951669-146951669		TAintronicDe novo--Trost2022 G
CNTNAP2     1-0672-003chr7:
146961728-146961728		ACintronicDe novo--Trost2022 G
CNTNAP2     PN400434chr7:
147336338-147336338		GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     1-0006-004chr7:
147402907-147402907		CAintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     AU4306302chr7:
146398475-146398475		AGintronicDe novo--Yuen2017 G
CNTNAP2     MT_107.3chr7:
147286862-147286862		TGintronicDe novo--Trost2022 G
CNTNAP2     1-0465-003achr7:
146796293-146796293		AGintronicDe novo--Yuen2017 G
CNTNAP2     2-1286-003chr7:
147289398-147289398		TCintronicDe novo--Trost2022 G
CNTNAP2     2-0300-003chr7:
148192241-148192241		GAintergenicDe novo--Yuen2017 G
CNTNAP2     AU4122301chr7:
147274764-147274764		GGTintronicDe novo--Trost2022 G
CNTNAP2     5-1042-003chr7:
147282574-147282577		CATTCintronicDe novo--Trost2022 G
CNTNAP2     5-1012-003chr7:
147270130-147270130		GCintronicDe novo--Trost2022 G
CNTNAP2     AU3076302chr7:
148119145-148119145		CTintergenicDe novo--Yuen2017 G
CNTNAP2     P007chr7:
147914415-147914415		CTexonicInheritedstopgainNM_014141c.C3046Tp.R1016X40.08.239E-6Long2019 ET
CNTNAP2     REACH000668chr7:
147386780-147386780		ACintronicDe novo--Trost2022 G
CNTNAP2     2-1772-003chr7:
147391896-147391896		CTintronicDe novo--Trost2022 G
CNTNAP2     1018chr7:
147382009-147382009		GAintronicDe novo--Trost2022 G
CNTNAP2     Li2017:16283chr7:
147869357-147869357		TCexonicUnknownnonsynonymous SNVNM_014141c.T2797Cp.F933L33.0-Li2017 T
CNTNAP2     3-0142-000chr7:
147385020-147385020		ACintronicDe novo--Trost2022 G
CNTNAP2     MSSNG00368-003chr7:
147360765-147360765		ACintronicDe novo--Trost2022 G
CNTNAP2     AM04ZF-03chr7:
147374103-147374103		CTintronicDe novo--Trost2022 G
CNTNAP2     3-0736-000chr7:
147329541-147329541		GAintronicDe novo--Trost2022 G
CNTNAP2     2-1806-003chr7:
147352754-147352754		CTintronicDe novo--Trost2022 G
CNTNAP2     5-0101-003chr7:
147498442-147498442		ATintronicDe novo--Trost2022 G
CNTNAP2     AU3763305chr7:
147510257-147510257		TCintronicDe novo--Trost2022 G
CNTNAP2     MSSNG00108-004chr7:
147484304-147484304		TCintronicDe novo--Trost2022 G
CNTNAP2     7-0167-003chr7:
146304967-146304967		CAintronicDe novo--Yuen2017 G
CNTNAP2     AU055603chr7:
147488175-147488175		GTintronicDe novo--Trost2022 G
CNTNAP2     2-1507-003chr7:
146943173-146943173		TCintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     7-0352-003chr7:
147422779-147422779		ACintronicDe novo--Trost2022 G
CNTNAP2     MSSNG00398-003chr7:
147430695-147430695		CAintronicDe novo--Trost2022 G
CNTNAP2     4-0028-003chr7:
147400921-147400921		TCintronicDe novo--Trost2022 G
CNTNAP2     AU011021chr7:
146834880-146834880		AGintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     2-1644-003chr7:
147415015-147415016		CTAAintronicDe novo--Trost2022 G
CNTNAP2     2-1337-003chr7:
147324378-147324378		CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
CNTNAP2     PN400568chr7:
147336338-147336338		GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     7-0233-004chr7:
147572150-147572150		TCintronicDe novo--Trost2022 G
CNTNAP2     5-0003-004chr7:
147585791-147585803		GACAATGGAACCCTTTTTTTTTTTTTTTTintronicDe novo--Trost2022 G
CNTNAP2     2-1281-003chr7:
148123760-148123760		GAintergenicDe novo--Yuen2017 G
CNTNAP2     2-1459-003chr7:
148279649-148279649		AGintergenicDe novo--Yuen2016 G
Yuen2017 G
CNTNAP2     PN400137chr7:
147336338-147336338		GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     PN400249chr7:
147336338-147336338		GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     1-0556-003chr7:
146556079-146556079		CTintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     2-1299-003chr7:
147439038-147439038		CAintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     1-0088-003chr7:
148079198-148079198		CTintronicDe novo--Trost2022 G
CNTNAP2     5-0068-003chr7:
148083549-148083549		GTintronicDe novo--Trost2022 G
CNTNAP2     MSSNG00373-003chr7:
148048372-148048372		GCintronicDe novo--Trost2022 G
CNTNAP2     10-1104-003chr7:
148065309-148065309		CTintronicDe novo--Trost2022 G
CNTNAP2     1-0681-003chr7:
148044220-148044220		GTintronicDe novo--Trost2022 G
CNTNAP2     AN00090chr7:
146805310-146805310		CAexonicUnknownnonsynonymous SNVNM_014141c.C622Ap.L208M16.99-D’Gama2015 T
CNTNAP2     MT_47.3chr7:
148046735-148046735		CTintronicDe novo--Trost2022 G
CNTNAP2     AN03345chr7:
146805322-146805322		AGexonicUnknownnonsynonymous SNVNM_014141c.A634Gp.I212V21.1-D’Gama2015 T
CNTNAP2     MSSNG00335-003chr7:
148104080-148104082		TTATintronicDe novo--Trost2022 G
CNTNAP2     2-1477-003chr7:
145938253-145938253		AGintronicDe novo--Yuen2016 G
Yuen2017 G
CNTNAP2     MSSNG00335-003chr7:
148104085-148104085		CAintronicDe novo--Trost2022 G
CNTNAP2     AU4435301chr7:
146888860-146888860		ATintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     PN400350chr7:
147336338-147336338		GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     AU4231301chr7:
146501606-146501606		AGintronicDe novo--Yuen2017 G
CNTNAP2     2-0286-003chr7:
146085273-146085273		CTintronicDe novo--Yuen2017 G
CNTNAP2     1-0272-004chr7:
147340738-147340738		GAintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     1-0756-005chr7:
146954511-146954511		GCintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     1-0701-003chr7:
146162826-146162826		CTintronicDe novo--Yuen2017 G
CNTNAP2     1-0756-005chr7:
146007616-146007616		TCintronicDe novo--Yuen2017 G
CNTNAP2     AU3692301chr7:
146383772-146383772		TCintronicDe novo--Yuen2017 G
CNTNAP2     1-0582-003chr7:
147334624-147334627		CTGTCTintronicDe novo--Yuen2017 G
CNTNAP2     AU3122301chr7:
147388092-147388092		TCintronicDe novo--Yuen2017 G
CNTNAP2     AU057503chr7:
146042001-146042001		CAintronicDe novo--Yuen2017 G
CNTNAP2     AU057503chr7:
146370640-146370640		GCintronicDe novo--Yuen2017 G
CNTNAP2     Li2017:18494chr7:
147183035-147183035		CGexonicUnknownnonsynonymous SNVNM_014141c.C1679Gp.P560R20.7-Li2017 T
CNTNAP2     1-0022-004chr7:
148105328-148105328		GAintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     5-0074-003chr7:
146301421-146301421		AGintronicDe novo--Yuen2017 G
CNTNAP2     PN400579chr7:
147336338-147336338		GAexonicUnknown, Inheritednonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
Leblond2019 E
CNTNAP2     2-1154-003chr7:
148273913-148273913		AGintergenicDe novo--Yuen2017 G
CNTNAP2     mAGRE5996chr7:
146740998-146740998		GAsplicingMaternalsplicing14.01-Cirnigliaro2023 G
CNTNAP2     mAGRE5995chr7:
146740998-146740998		GAsplicingMaternalsplicing14.01-Cirnigliaro2023 G
CNTNAP2     PN400543chr7:
147336338-147336338		GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     AU3730301chr7:
147431366-147431366		CTintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     PN400581chr7:
147336338-147336338		GAexonicUnknown, Inheritednonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
Leblond2019 E
CNTNAP2     AU4033305chr7:
148216448-148216448		GAintergenicDe novo--Yuen2017 G
CNTNAP2     A2chr7:
146295830-146295830		TCintronicDe novo--Wu2018 G
CNTNAP2     1-0022-003chr7:
148105328-148105328		GAintronicDe novo--Yuen2016 G
CNTNAP2     PN400518chr7:
147336338-147336338		GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     PN400582chr7:
147336338-147336338		GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     Alvarez-Mora2016:ASD-17chr7:
147914587-147914587		ATexonicPaternalnonsynonymous SNVNM_014141c.A3218Tp.D1073V22.5-Alvarez-Mora2016 T
CNTNAP2     PN400396chr7:
147336338-147336338		GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     2-1629-003chr7:
146900950-146900950		ATintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     2-1644-004chr7:
146267480-146267480		GAintronicDe novo--Yuen2017 G
CNTNAP2     PN400521chr7:
147336338-147336338		GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     2-0109-003chr7:
146114411-146114411		AGintronicDe novo--Yuen2017 G
CNTNAP2     AU015903chr7:
145952674-145952674		TCintronicDe novo--Yuen2017 G
CNTNAP2     AU026412chr7:
146290577-146290577		AGintronicDe novo--Yuen2017 G
CNTNAP2     AU2072302chr7:
146595063-146595063		TCintronicDe novo--Yuen2017 G
CNTNAP2     1-0652-003chr7:
146354396-146354396		AGintronicDe novo--Yuen2017 G
CNTNAP2     AU1635302chr7:
147347156-147347156		CTintronicDe novo--Trost2022 G
Yuen2017 G
CNTNAP2     1-0841-003chr7:
146667283-146667283		AGintronicDe novo--Yuen2017 G
Source Variant Information

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