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Results for "RELN"

Variant Events: 173

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
RELN     Gecz1_26653chr7:
103113284-103113284		CTexonicUnknownnonsynonymous SNVNM_173054
NM_005045		c.G10352A
c.G10358A		p.R3451Q
p.R3453Q		23.03.302E-5Wang2020 T
RELN     ITAN_1408chr7:
103292197-103292197		CAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G1803T
c.G1803T		p.W601C
p.W601C		24.78.34E-6Wang2020 T
RELN     ACGC_M23847chr7:
103185783-103185783		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G6311A
c.G6311A		p.R2104H
p.R2104H		33.07.528E-5Wang2020 T
RELN     09C81884chr7:
103155785-103155785		CTexonicDe novononsynonymous SNVNM_005045
NM_173054		c.G7966A
c.G7966A		p.D2656N
p.D2656N		34.0-Stessman2017 T
Stessman2017 T
RELN     AU4219302chr7:
103530749-103530749		CTintronicDe novo--Trost2022 G
Yuen2017 G
RELN     AGRE_AU1501301chr7:
103113284-103113284		CTexonicUnknownnonsynonymous SNVNM_173054
NM_005045		c.G10352A
c.G10358A		p.R3451Q
p.R3453Q		23.03.302E-5Wang2020 T
RELN     5-0114-003chr7:
103406247-103406247		ACintronicDe novo--Trost2022 G
Yuen2017 G
RELN     ITAN_625chr7:
103113284-103113284		CTexonicMaternalnonsynonymous SNVNM_173054
NM_005045		c.G10352A
c.G10358A		p.R3451Q
p.R3453Q		23.03.302E-5Wang2020 T
RELN     M21714chr7:
103205755-103205755		CTexonicPaternalnonsynonymous SNVNM_005045
NM_173054		c.G5180A
c.G5180A		p.R1727Q
p.R1727Q		33.03.296E-5Guo2018 T
Wang2016 T
RELN     Stessman2017:ASD_1304chr7:
103180649-103180649		CTexonicInheritednonsynonymous SNVNM_005045
NM_173054		c.G6925A
c.G6925A		p.D2309N
p.D2309N		31.04.131E-5Stessman2017 T
RELN     M19617chr7:
103474032-103474032		CTexonicPaternalnonsynonymous SNVNM_005045
NM_173054		c.G425A
c.G425A		p.S142N
p.S142N		34.03.299E-5Guo2018 T
Wang2016 T
RELN     ITAN_2258chr7:
103216138-103216138		CTexonicMaternalnonsynonymous SNVNM_005045
NM_173054		c.G4160A
c.G4160A		p.R1387Q
p.R1387Q		35.0-Wang2020 T
RELN     13177.p1chr7:
103126691-103126691		ACexonicDe novononsynonymous SNVNM_005045
NM_173054		c.T9936G
c.T9936G		p.C3312W
p.C3312W		18.231.0E-4Satterstrom2020 E
RELN     SF0028290.p1chr7:
103251161-103251161		GCexonicnonsynonymous SNVNM_005045
NM_173054		c.C2989G
c.C2989G		p.L997V
p.L997V		8.8480.1166Wang2020 T
RELN     1-0465-003achr7:
103269669-103269669		CGintronicDe novo--Yuen2017 G
RELN     SF0014554.p1chr7:
103130333-103130333		GAexonicnonsynonymous SNVNM_005045
NM_173054		c.C9619T
c.C9619T		p.R3207C
p.R3207C		23.8-Wang2020 T
RELN     AU4264302chr7:
103175155-103175155		CGintronicDe novo--Trost2022 G
Yuen2017 G
RELN     2-1428-003chr7:
103177893-103177893		GAintronicDe novo--Trost2022 G
Yuen2017 G
RELN     14093.p1chr7:
103718420-103718420		CTintergenicDe novo--Wilfert2021 G
RELN     AU3907302chr7:
103440504-103440504		TAintronicDe novo--Trost2022 G
Yuen2017 G
RELN     AGRE_04C29909chr7:
103151311-103151311		ACexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.T8261G
c.T8261G		p.I2754S
p.I2754S		21.91.663E-5Wang2020 T
RELN     SF0087907.p1chr7:
103474061-103474061		GTexonicnonsynonymous SNVNM_005045
NM_173054		c.C396A
c.C396A		p.H132Q
p.H132Q		18.478.277E-6Wang2020 T
RELN     Li2017:17444chr7:
103237104-103237104		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G3338A
c.G3338A		p.G1113E
p.G1113E		27.28.279E-6Li2017 T
RELN     GX0320.p1chr7:
103393662-103393662		CAsplicingMaternalsplicing13.81-Guo2018 T
RELN     7-0002-003chr7:
103696620-103696620		GAintergenicDe novo--Yuen2017 G
RELN     SAGE_BK830-02chr7:
103136210-103136210		CTexonicPaternalnonsynonymous SNVNM_005045
NM_173054		c.G9329A
c.G9329A		p.R3110Q
p.R3110Q		35.08.24E-5Wang2020 T
RELN     Li2017:17563chr7:
103143548-103143548		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G8404A
c.G8404A		p.G2802R
p.G2802R		28.41.648E-5Li2017 T
RELN     ACGC_M30612chr7:
103243834-103243835		GCGexonicPaternalframeshift deletionNM_005045
NM_173054		c.3249delG
c.3249delG		p.W1083fs
p.W1083fs		--Wang2020 T
RELN     ACGC_M21714chr7:
103205755-103205755		CTexonicPaternalnonsynonymous SNVNM_005045
NM_173054		c.G5180A
c.G5180A		p.R1727Q
p.R1727Q		33.03.296E-5Wang2020 T
RELN     AU0531302chr7:
103207069-103207069		GAexonicDe novostopgainNM_005045
NM_173054		c.C4726T
c.C4726T		p.R1576X
p.R1576X		45.0-Stessman2017 T
Stessman2017 T
RELN     M17444chr7:
103237104-103237104		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G3338A
c.G3338A		p.G1113E
p.G1113E		27.28.279E-6Stessman2017 T
RELN     TASC_219-2288-1chr7:
103202044-103202044		CTexonicPaternalnonsynonymous SNVNM_005045
NM_173054		c.G5464A
c.G5464A		p.G1822S
p.G1822S		35.08.243E-6Wang2020 T
RELN     5-0014-003chr7:
103604771-103604771		AGintronicDe novo--Trost2022 G
Yuen2017 G
RELN     SAGE_411.03chr7:
103136312-103136312		TTAexonicPaternalframeshift insertionNM_005045
NM_173054		c.9226dupT
c.9226dupT		p.Y3076fs
p.Y3076fs		--Wang2020 T
RELN     200675470_1082034721chr7:
103322603-103322603		GAexonicDe novostopgainNM_005045
NM_173054		c.C1249T
c.C1249T		p.Q417X
p.Q417X		39.0-Fu2022 E
RELN     2-1408-004chr7:
103194122-103194122		GTexonicDe novononsynonymous SNVNM_005045
NM_173054		c.C5954A
c.C5954A		p.S1985Y
p.S1985Y		21.0-Trost2022 G
Wang2020 T
Yuen2015 G
Yuen2017 G
Zhou2022 GE
RELN     M30612chr7:
103243834-103243835		GCGexonicPaternalframeshift deletionNM_005045
NM_173054		c.3249delG
c.3249delG		p.W1083fs
p.W1083fs		--Guo2018 T
RELN     Cukier2014:17342chr7:
103234202-103234202		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G3839A
c.G3839A		p.G1280E
p.G1280E		26.20.0102Cukier2014 E
RELN     AU4015301chr7:
103255311-103255311		GAintronicDe novo--Trost2022 G
Yuen2017 G
RELN     M08584chr7:
103126648-103126648		CAexonicMaternalnonsynonymous SNVNM_005045
NM_173054		c.G9979T
c.G9979T		p.A3327S
p.A3327S		35.0-Guo2018 T
Wang2016 T
RELN     SSC06471chr7:
103180706-103180706		GAexonicDe novononsynonymous SNVNM_005045
NM_173054		c.C6868T
c.C6868T		p.R2290C
p.R2290C		26.3-Fu2022 E
Lim2017 E
Trost2022 G
RELN     M20727chr7:
103201980-103201980		CAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G5528T
c.G5528T		p.G1843V
p.G1843V		24.91.0E-4Stessman2017 T
RELN     Ohashi2021:ASD-175chr7:
103185784-103185784		GAexonicnonsynonymous SNVNM_005045
NM_173054		c.C6310T
c.C6310T		p.R2104C
p.R2104C		19.948.395E-6Ohashi2021 ET
RELN     Gecz3_40575chr7:
103230169-103230169		GAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C4019T
c.C4019T		p.P1340L
p.P1340L		32.01.649E-5Wang2020 T
RELN     AU0903301chr7:
103163929-103163929		GAexonicDe novostopgainNM_005045
NM_173054		c.C7399T
c.C7399T		p.Q2467X
p.Q2467X		49.0-Stessman2017 T
Stessman2017 T
RELN     AU210Achr7:
103162572-103162572		AGexonicUnknown, De novononsynonymous SNVNM_005045
NM_173054		c.T7565C
c.T7565C		p.F2522S
p.F2522S		25.2-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
RELN     Ohashi2021:ASD-149chr7:
103202149-103202149		GAexonicnonsynonymous SNVNM_005045
NM_173054		c.C5359T
c.C5359T		p.R1787W
p.R1787W		23.06.612E-5Ohashi2021 ET
RELN     1255JS0019chr7:
103322603-103322603		GAexonicUnknown, De novostopgainNM_005045
NM_173054		c.C1249T
c.C1249T		p.Q417X
p.Q417X		39.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
RELN     Ohashi2021:ASD-079chr7:
103185784-103185784		GAexonicnonsynonymous SNVNM_005045
NM_173054		c.C6310T
c.C6310T		p.R2104C
p.R2104C		19.948.395E-6Ohashi2021 ET
RELN     ACGC_M30330chr7:
103230169-103230169		GAexonicMaternalnonsynonymous SNVNM_005045
NM_173054		c.C4019T
c.C4019T		p.P1340L
p.P1340L		32.01.649E-5Wang2020 T
RELN     AGRE_08C72362chr7:
103230169-103230169		GAexonicPaternalnonsynonymous SNVNM_005045
NM_173054		c.C4019T
c.C4019T		p.P1340L
p.P1340L		32.01.649E-5Wang2020 T
RELN     SP0213550chr7:
103234966-103234966		TGintronicDe novo--Trost2022 G
RELN     2-1336-003chr7:
103244510-103244512		AAGAintronicDe novo--Trost2022 G
RELN     1-0803-003chr7:
103227396-103227396		CTintronicDe novo--Trost2022 G
RELN     SP0034525chr7:
103234966-103234966		TGintronicDe novo--Trost2022 G
RELN     3-0460-000chr7:
103166609-103166609		TCintronicDe novo--Trost2022 G
RELN     3-0847-000chr7:
103222624-103222624		GTintronicDe novo--Trost2022 G
RELN     5023chr7:
103126691-103126691		ACexonicDe novononsynonymous SNVNM_005045
NM_173054		c.T9936G
c.T9936G		p.C3312W
p.C3312W		18.231.0E-4Trost2022 G
RELN     AU2000302chr7:
103602608-103602608		AGintronicDe novo--Trost2022 G
Yuen2017 G
RELN     1-0644-003chr7:
103161126-103161126		CTintronicDe novo--Trost2022 G
RELN     AGRE_AU0903301chr7:
103163929-103163929		GAexonicDe novostopgainNM_005045
NM_173054		c.C7399T
c.C7399T		p.Q2467X
p.Q2467X		49.0-Wang2020 T
RELN     MSSNG00131-003chr7:
103318083-103318083		CAintronicDe novo--Trost2022 G
RELN     AGRE_09C81884chr7:
103155785-103155785		CTexonicDe novononsynonymous SNVNM_005045
NM_173054		c.G7966A
c.G7966A		p.D2656N
p.D2656N		34.0-Wang2020 T
RELN     4-0090-003chr7:
103356890-103356890		TCintronicDe novo--Trost2022 G
RELN     1-0191-003chr7:
103280897-103280897		GAintronicDe novo--Trost2022 G
RELN     AGRE_AU0531302chr7:
103207069-103207069		GAexonicDe novostopgainNM_005045
NM_173054		c.C4726T
c.C4726T		p.R1576X
p.R1576X		45.0-Wang2020 T
RELN     REACH000454chr7:
103283305-103283305		CTintronicDe novo--Trost2022 G
RELN     MSSNG00206-003chr7:
103264064-103264064		AGintronicDe novo--Trost2022 G
RELN     98HI0575Achr7:
103131182-103131182		AGexonicDe novononsynonymous SNVNM_005045
NM_173054		c.T9538C
c.T9538C		p.Y3180H
p.Y3180H		16.58-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
RELN     1-0465-003Achr7:
103269669-103269669		CGintronicDe novo--Trost2022 G
RELN     MSSNG00336-003chr7:
103249557-103249557		CTintronicDe novo--Trost2022 G
RELN     AU059003chr7:
103252382-103252382		GTintronicDe novo--Trost2022 G
RELN     ACGC_M26918chr7:
103180699-103180699		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G6875A
c.G6875A		p.R2292H
p.R2292H		29.35.771E-5Wang2020 T
RELN     3-0359-000chr7:
103457056-103457056		AGintronicDe novo--Trost2022 G
RELN     ACGC_HEN0049.p1chr7:
103243926-103243926		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G3158A
c.G3158A		p.G1053E
p.G1053E		26.6-Wang2020 T
RELN     2-1425-004chr7:
103511418-103511418		GCTCintronicDe novo--Trost2022 G
RELN     APP_110052-100chr7:
103185636-103185636		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G6458A
c.G6458A		p.G2153D
p.G2153D		28.09.061E-5Wang2020 T
RELN     3-0530-000chr7:
103438222-103438223		TGTintronicDe novo--Trost2022 G
RELN     09C90312chr7:
103322603-103322603		GAexonicDe novostopgainNM_005045
NM_173054		c.C1249T
c.C1249T		p.Q417X
p.Q417X		39.0-Neale2012 E
Willsey2013 E
RELN     SanDiego_R8F8Zchr7:
103185636-103185636		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G6458A
c.G6458A		p.G2153D
p.G2153D		28.09.061E-5Wang2020 T
RELN     MSSNG00245-003chr7:
103453924-103453924		TAintronicDe novo--Trost2022 G
RELN     MT_45.3chr7:
103382022-103382022		GAintronicDe novo--Trost2022 G
RELN     MSSNG00054-005chr7:
103410833-103410833		GTintronicDe novo--Trost2022 G
RELN     ACGC_GX0575.p1chr7:
103155884-103155884		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G7867A
c.G7867A		p.V2623M
p.V2623M		22.7-Wang2020 T
RELN     4-0090-003chr7:
103356892-103356893		TATintronicDe novo--Trost2022 G
RELN     Li2017:23806chr7:
103629801-103629803		CATCexonicUnknownframeshift deletionNM_173054
NM_005045		N/A
N/A		N/A
N/A		--Li2017 T
RELN     Iowa_172_3_a.2.1chr7:
103557528-103557528		CGexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G331C
c.G331C		p.G111R
p.G111R		18.03-Wang2020 T
RELN     7-0051-003chr7:
103380267-103380267		GTintronicDe novo--Trost2022 G
RELN     Greenwood_Cms6476Bchr7:
103252216-103252216		GAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C2737T
c.C2737T		p.R913C
p.R913C		29.85.789E-5Wang2020 T
RELN     Gecz4_48176chr7:
103180649-103180649		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G6925A
c.G6925A		p.D2309N
p.D2309N		31.04.131E-5Wang2020 T
RELN     Greenwood_Cms23880chr7:
103252216-103252216		GAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C2737T
c.C2737T		p.R913C
p.R913C		29.85.789E-5Wang2020 T
RELN     APP_109776-100chr7:
103124256-103124256		GAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C10025T
c.C10025T		p.T3342M
p.T3342M		28.01.648E-5Wang2020 T
RELN     ACGC_HEN0248.p1chr7:
103180649-103180649		CTexonicPaternalnonsynonymous SNVNM_005045
NM_173054		c.G6925A
c.G6925A		p.D2309N
p.D2309N		31.04.131E-5Wang2020 T
RELN     5-0030-003chr7:
103612246-103612249		ATGCGCGGintronicDe novo--Trost2022 G
RELN     AU2427303chr7:
103350573-103350573		CTintronicDe novo--Trost2022 G
Yuen2017 G
RELN     SanDiego_M2C4Jchr7:
103123375-103123375		GAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C10225T
c.C10225T		p.R3409C
p.R3409C		34.03.295E-5Wang2020 T
RELN     Melbourne2_ASD_1304chr7:
103180649-103180649		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G6925A
c.G6925A		p.D2309N
p.D2309N		31.04.131E-5Wang2020 T
RELN     ACGC_HN0115.p1chr7:
103193948-103193948		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G6032A
c.G6032A		p.R2011H
p.R2011H		20.52.476E-5Wang2020 T
RELN     AU2448301chr7:
103609395-103609395		ATintronicDe novo--Trost2022 G
RELN     1-0292-005chr7:
103495774-103495774		GCintronicDe novo--Trost2022 G
Yuen2017 G
RELN     ACGC_M17503chr7:
103193948-103193948		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G6032A
c.G6032A		p.R2011H
p.R2011H		20.52.476E-5Wang2020 T
RELN     AGRE_AU1885302chr7:
103207068-103207068		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G4727A
c.G4727A		p.R1576Q
p.R1576Q		23.4-Wang2020 T
RELN     5-0030-003chr7:
103612242-103612242		AGintronicDe novo--Trost2022 G
RELN     Greenwood_Cms2322bchr7:
103202267-103202267		GAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C5344T
c.C5344T		p.R1782C
p.R1782C		29.02.0E-4Wang2020 T
RELN     MSSNG00430-003chr7:
103561794-103561794		TTCintronicDe novo--Trost2022 G
RELN     Greenwood_12053chr7:
103202267-103202267		GAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C5344T
c.C5344T		p.R1782C
p.R1782C		29.02.0E-4Wang2020 T
RELN     MSSNG00021-003chr7:
103601108-103601108		ACintronicDe novo--Trost2022 G
RELN     AGRE_AU0946302chr7:
103183217-103183217		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G6632A
c.G6632A		p.R2211H
p.R2211H		29.26.59E-5Wang2020 T
RELN     Leuven2_62774724chr7:
103185741-103185741		GAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C6353T
c.C6353T		p.P2118L
p.P2118L		34.01.653E-5Wang2020 T
RELN     Leuven2_60885244chr7:
103183217-103183217		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G6632A
c.G6632A		p.R2211H
p.R2211H		29.26.59E-5Wang2020 T
RELN     Gecz3_40429chr7:
103557528-103557528		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G331A
c.G331A		p.G111R
p.G111R		18.581.651E-5Wang2020 T
RELN     Leuven_320877chr7:
103185741-103185741		GAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C6353T
c.C6353T		p.P2118L
p.P2118L		34.01.653E-5Wang2020 T
RELN     AU1885302chr7:
103207068-103207068		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G4727A
c.G4727A		p.R1576Q
p.R1576Q		23.4-Stessman2017 T
RELN     Gecz3_40428chr7:
103557528-103557528		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G331A
c.G331A		p.G111R
p.G111R		18.581.651E-5Wang2020 T
RELN     Leuven2_64646367chr7:
103185741-103185741		GAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C6353T
c.C6353T		p.P2118L
p.P2118L		34.01.653E-5Wang2020 T
RELN     AGRE_04C24261chr7:
103155835-103155835		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G7916A
c.G7916A		p.R2639H
p.R2639H		34.01.653E-5Wang2020 T
RELN     ACGC_HEN0134.p1chr7:
103138318-103138318		GAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C8899T
c.C8899T		p.R2967C
p.R2967C		22.91.65E-5Wang2020 T
RELN     ACGC_M17444chr7:
103237104-103237104		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G3338A
c.G3338A		p.G1113E
p.G1113E		27.28.279E-6Wang2020 T
RELN     ACGC_GD0119.p1chr7:
103234887-103234887		GTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C3592A
c.C3592A		p.R1198S
p.R1198S		28.08.239E-6Wang2020 T
RELN     M23639chr7:
103290810-103290810		GAexonicMaternalnonsynonymous SNVNM_005045
NM_173054		c.C1913T
c.C1913T		p.P638L
p.P638L		31.06.621E-5Wang2016 T
RELN     2-1169-003chr7:
103527459-103527459		GAintronicDe novo--Trost2022 G
Yuen2017 G
RELN     AU0452304chr7:
103417669-103417669		TCintronicDe novo--Trost2022 G
Yuen2017 G
RELN     SP0236367chr7:
103159773-103159773		GCexonicnonsynonymous SNVNM_005045
NM_173054		c.C7859G
c.C7859G		p.P2620R
p.P2620R		25.1-Zhou2022 GE
RELN     SP0246687chr7:
103138656-103138656		TAexonicnonsynonymous SNVNM_005045
NM_173054		c.A8711T
c.A8711T		p.D2904V
p.D2904V		25.6-Zhou2022 GE
RELN     2-1466-003chr7:
103761782-103761782		GTintergenicDe novo--Yuen2016 G
Yuen2017 G
RELN     1-0217-003chr7:
103185667-103185667		TTAexonicDe novoframeshift insertionNM_005045
NM_173054		c.6426dupT
c.6426dupT		p.I2143fs
p.I2143fs		--Trost2022 G
Zhou2022 GE
RELN     5-0077-004chr7:
103440413-103440413		AACAGCTATTCATGCTAAAAACTCTCAATAAACTintronicDe novo--Yuen2017 G
RELN     SP0087907chr7:
103474061-103474061		GTexonicDe novononsynonymous SNVNM_005045
NM_173054		c.C396A
c.C396A		p.H132Q
p.H132Q		18.478.277E-6Trost2022 G
Zhou2022 GE
RELN     AU3911301chr7:
103278567-103278567		CGintronicDe novo--Trost2022 G
Yuen2017 G
RELN     MSSNG00362-003chr7:
103185709-103185709		CTexonicDe novononsynonymous SNVNM_005045
NM_173054		c.G6385A
c.G6385A		p.G2129S
p.G2129S		25.8-Trost2022 G
Zhou2022 GE
RELN     SP0074795chr7:
103205653-103205653		GTintronicDe novo--Fu2022 E
RELN     SP0018350chr7:
103338351-103338351		GAexonicDe novosynonymous SNVNM_005045
NM_173054		c.C1092T
c.C1092T		p.L364L
p.L364L		-1.651E-5Fu2022 E
Trost2022 G
Zhou2022 GE
RELN     SP0014554chr7:
103130333-103130333		GAexonicDe novononsynonymous SNVNM_005045
NM_173054		c.C9619T
c.C9619T		p.R3207C
p.R3207C		23.8-Fu2022 E
Trost2022 G
Zhou2022 GE
RELN     SP0016873chr7:
103252242-103252242		CAexonicDe novononsynonymous SNVNM_005045
NM_173054		c.G2711T
c.G2711T		p.G904V
p.G904V		24.6-Trost2022 G
Zhou2022 GE
RELN     PN400504chr7:
103205853-103205853		CTexonicUnknownstopgainNM_005045
NM_173054		c.G5082A
c.G5082A		p.W1694X
p.W1694X		47.0-Leblond2019 E
RELN     M30330chr7:
103230169-103230169		GAexonicMaternalnonsynonymous SNVNM_005045
NM_173054		c.C4019T
c.C4019T		p.P1340L
p.P1340L		32.01.649E-5Guo2018 T
RELN     AU2333302chr7:
103254556-103254556		CGintronicDe novo--Yuen2017 G
RELN     AU2950301chr7:
103713968-103713968		ATintergenicDe novo--Yuen2017 G
RELN     13012.p1chr7:
103180706-103180706		GAexonicUnknown, De novononsynonymous SNVNM_005045
NM_173054		c.C6868T
c.C6868T		p.R2290C
p.R2290C		26.3-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Zhou2022 GE
RELN     M19655chr7:
103290810-103290810		GAexonicPaternalnonsynonymous SNVNM_005045
NM_173054		c.C1913T
c.C1913T		p.P638L
p.P638L		31.06.621E-5Wang2016 T
RELN     M2C4Jchr7:
103123375-103123375		GAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C10225T
c.C10225T		p.R3409C
p.R3409C		34.03.295E-5Stessman2017 T
RELN     HN0075.p1chr7:
103251224-103251224		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G2926A
c.G2926A		p.E976K
p.E976K		32.0-Guo2018 T
RELN     3-0209-000chr7:
103550986-103550986		CTintronicDe novo--Trost2022 G
Yuen2017 G
RELN     1-0465-003chr7:
103269669-103269669		CGintronicDe novo--Yuen2017 G
RELN     7-0035-003chr7:
103351218-103351218		CTintronicDe novo--Trost2022 G
Yuen2017 G
RELN     7-0119-003chr7:
103316648-103316648		ATintronicDe novo--Trost2022 G
Yuen2017 G
RELN     13322.p1chr7:
103130237-103130237		CTexonicMosaicnonsynonymous SNVNM_005045
NM_173054		c.G9715A
c.G9715A		p.G3239R
p.G3239R		22.4-Krupp2017 E
RELN     03C17165chr7:
103183274-103183274		CGexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G6575C
c.G6575C		p.R2192P
p.R2192P		19.53-Stessman2017 T
RELN     TASC_217-14407-5160chr7:
103368644-103368645		TATexonicMaternalstopgainNM_005045
NM_173054		c.666delT
c.666delT		p.C222X
p.C222X		--Wang2020 T
RELN     3-0391-000chr7:
103379660-103379660		GCintronicDe novo--Trost2022 G
Yuen2017 G
RELN     3-0391-000chr7:
103381684-103381684		GCintronicDe novo--Trost2022 G
Yuen2017 G
RELN     ACGC_GX0320.p1chr7:
103393662-103393662		CAsplicingMaternalsplicing13.81-Wang2020 T
RELN     14370.p1chr7:
103627101-103627101		TAintronicDe novo--Turner2016 G
RELN     04C24261chr7:
103155835-103155835		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G7916A
c.G7916A		p.R2639H
p.R2639H		34.01.653E-5Stessman2017 T
RELN     Leuven_359374chr7:
103138305-103138305		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G8912A
c.G8912A		p.R2971Q
p.R2971Q		36.0-Wang2020 T
RELN     175585chr7:
103301936-103301936		CAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G1328T
c.G1328T		p.G443V
p.G443V		24.5-Stessman2017 T
RELN     Leuven_280779chr7:
103124158-103124158		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G10123A
c.G10123A		p.A3375T
p.A3375T		36.01.647E-5Wang2020 T
RELN     AGRE_03C17165chr7:
103183274-103183274		CGexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G6575C
c.G6575C		p.R2192P
p.R2192P		19.53-Wang2020 T
RELN     Alvarez-Mora2016:ASD-55chr7:
103234931-103234931		TCexonicMaternalnonsynonymous SNVNM_005045
NM_173054		c.A3548G
c.A3548G		p.Y1183C
p.Y1183C		17.078.257E-6Alvarez-Mora2016 T
RELN     Leuven_175585chr7:
103301936-103301936		CAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G1328T
c.G1328T		p.G443V
p.G443V		24.5-Wang2020 T
RELN     3-0391-000chr7:
103401126-103401126		GCintronicDe novo--Trost2022 G
Yuen2017 G
RELN     AU2787302chr7:
103354934-103354934		CTintronicDe novo--Trost2022 G
Yuen2017 G
RELN     SanDiego_00918-U9C6Zchr7:
103202090-103202094		GTCTTGexonicUnknownframeshift deletionNM_005045
NM_173054		c.5414_5417del
c.5414_5417del		p.K1805fs
p.K1805fs		--Wang2020 T
RELN     280779chr7:
103124158-103124158		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G10123A
c.G10123A		p.A3375T
p.A3375T		36.01.647E-5Stessman2017 T
RELN     200675470@1082034721chr7:
103322603-103322603		GAexonicDe novostopgainNM_005045
NM_173054		c.C1249T
c.C1249T		p.Q417X
p.Q417X		39.0-Satterstrom2020 E
Trost2022 G
Zhou2022 GE
RELN     217-14407-5160chr7:
103368645-103368646		ACCexonicMaternalstopgainNM_005045
NM_173054		c.666delT
c.666delT		p.C222X
p.C222X		--Stessman2017 T
RELN     359374chr7:
103138305-103138305		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G8912A
c.G8912A		p.R2971Q
p.R2971Q		36.0-Stessman2017 T
RELN     1-0674-003chr7:
103227261-103227261		CTintronicDe novo--Trost2022 G
Yuen2017 G
RELN     219-2288-1chr7:
103202044-103202044		CTexonicPaternalnonsynonymous SNVNM_005045
NM_173054		c.G5464A
c.G5464A		p.G1822S
p.G1822S		35.08.243E-6Stessman2017 T
RELN     HEN0248.p1chr7:
103180649-103180649		CTexonicPaternalnonsynonymous SNVNM_005045
NM_173054		c.G6925A
c.G6925A		p.D2309N
p.D2309N		31.04.131E-5Guo2018 T
RELN     2-1215-003chr7:
103742871-103742871		GTintergenicDe novo--Yuen2017 G
RELN     M23847chr7:
103185783-103185783		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G6311A
c.G6311A		p.R2104H
p.R2104H		33.07.528E-5Guo2018 T
Wang2016 T
RELN     Li2017:16070chr7:
103185633-103185633		TCexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.A6461G
c.A6461G		p.Y2154C
p.Y2154C		22.28.237E-6Li2017 T
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