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Results for "ADNP"

Variant Events: 149

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
ADNP     Zhang2023:ASD0134chr20:
49509095-49509095		TTTexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.2156dupA
c.2156dupA
c.2156dupA
c.2156dupA		p.Y719_E720delinsX
p.Y719_E720delinsX
p.Y719_E720delinsX
p.Y719_E720delinsX		--Zhang2023 G
ADNP     GX0124.p1chr20:
49508141-49508141		TGexonicPaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.A3110C
c.A3110C
c.A3110C
c.A3110C		p.E1037A
p.E1037A
p.E1037A
p.E1037A		12.49-Guo2018 T
ADNP     111294chr20:
49508751-49508755		CTTTACexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2496_2499del
c.2496_2499del
c.2496_2499del
c.2496_2499del		p.N832fs
p.N832fs
p.N832fs
p.N832fs		--Helsmoortel2014 T
ADNP     M32301chr20:
49508073-49508073		GAexonicPaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.C3178T
c.C3178T
c.C3178T
c.C3178T		p.P1060S
p.P1060S
p.P1060S
p.P1060S		11.81-Guo2018 T
ADNP     035-09-110762chr20:
49508990-49508990		ACexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.T2261G
c.T2261G
c.T2261G
c.T2261G		p.L754X
p.L754X
p.L754X
p.L754X		45.0-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ADNP     11-08612chr20:
49510040-49510040		GTexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.C1211A
c.C1211A
c.C1211A
c.C1211A		p.S404X
p.S404X
p.S404X
p.S404X		40.0-Helsmoortel2014 T
ADNP     GX0471.p1chr20:
49509666-49509666		CTexonicPaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.G1585A
c.G1585A
c.G1585A
c.G1585A		p.A529T
p.A529T
p.A529T
p.A529T		15.971.648E-5Guo2018 T
ADNP     1050237chr20:
49509085-49509098		CATTTGCTCGTAAGCexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2153_2165del
c.2153_2165del
c.2153_2165del
c.2153_2165del		p.T718fs
p.T718fs
p.T718fs
p.T718fs		--Helsmoortel2014 T
ADNP     M30841chr20:
49508520-49508520		GAexonicPaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2731T
c.C2731T
c.C2731T
c.C2731T		p.H911Y
p.H911Y
p.H911Y
p.H911Y		4.5771.649E-5Guo2018 T
ADNP     3061-08Dchr20:
49509094-49509094		GCexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2157G
c.C2157G
c.C2157G
c.C2157G		p.Y719X
p.Y719X
p.Y719X
p.Y719X		38.0-Helsmoortel2014 T
ADNP     M12352chr20:
49508079-49508079		AGexonicUnknownnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.T3172C
c.T3172C
c.T3172C
c.T3172C		p.S1058P
p.S1058P
p.S1058P
p.S1058P		5.8718.24E-6Wang2016 T
ADNP     122793chr20:
49508756-49508760		TTTAATexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2491_2494del
c.2491_2494del
c.2491_2494del
c.2491_2494del		p.L831fs
p.L831fs
p.L831fs
p.L831fs		--Helsmoortel2014 T
ADNP     07-06960chr20:
49508442-49508443		CGCexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.2808delC
c.2808delC
c.2808delC
c.2808delC		p.Y936X
p.Y936X
p.Y936X
p.Y936X		--Helsmoortel2014 T
ADNP     HN0125.p1chr20:
49507974-49507974		CTexonicPaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.G3277A
c.G3277A
c.G3277A
c.G3277A		p.A1093T
p.A1093T
p.A1093T
p.A1093T		0.019-Guo2018 T
ADNP     2376chr20:
49508756-49508760		TTTAATexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2491_2494del
c.2491_2494del
c.2491_2494del
c.2491_2494del		p.L831fs
p.L831fs
p.L831fs
p.L831fs		--Helsmoortel2014 T
ADNP     2533chr20:
49509321-49509321		GAexonicUnknownstopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.C1930T
c.C1930T
c.C1930T
c.C1930T		p.R644X
p.R644X
p.R644X
p.R644X		42.0-Helsmoortel2014 T
ADNP     13545_p1chr20:
49509094-49509094		GGTexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.2156dupA
c.2156dupA
c.2156dupA
c.2156dupA		p.Y719_E720delinsX
p.Y719_E720delinsX
p.Y719_E720delinsX
p.Y719_E720delinsX		--Fu2022 E
ADNP     13545.p1 Complex Event; expand row to view variants  De novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.2156dupA
c.2156dupA
c.2156dupA
c.2156dupA		p.Y719_E720delinsX
p.Y719_E720delinsX
p.Y719_E720delinsX
p.Y719_E720delinsX		--Helsmoortel2014 T
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2014 T
Satterstrom2020 E
Trost2022 G
Wang2020 T
Wilfert2021 G
Zhou2022 GE
ADNP     COL1111_03chr20:
49510027-49510029		CTTCexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.1222_1223del
c.1222_1223del
c.1222_1223del
c.1222_1223del		p.K408fs
p.K408fs
p.K408fs
p.K408fs		--Fu2022 E
ADNP     DEASD_2052_001chr20:
49509770-49509770		CTexonicDe novononsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.G1481A
c.G1481A
c.G1481A
c.G1481A		p.C494Y
p.C494Y
p.C494Y
p.C494Y		15.86-Fu2022 E
ADNP     GX0202.p1chr20:
49510928-49510928		TCexonicPaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.A323G
c.A323G
c.A323G
c.A323G		p.N108S
p.N108S
p.N108S
p.N108S		6.793-Guo2018 T
ADNP     M8878chr20:
49508151-49508151		CTexonicDe novononsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.G3100A
c.G3100A
c.G3100A
c.G3100A		p.G1034R
p.G1034R
p.G1034R
p.G1034R		17.678.238E-5Wang2016 T
ADNP     GX0435.p1chr20:
49510592-49510592		CTexonicPaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.G659A
c.G659A
c.G659A
c.G659A		p.S220N
p.S220N
p.S220N
p.S220N		4.0132.471E-5Guo2018 T
ADNP     Gecz3_39914chr20:
49508203-49508203		CCTexonicUnknownframeshift insertionNM_001282532
NM_181442
NM_015339
NM_001282531		c.3047dupA
c.3047dupA
c.3047dupA
c.3047dupA		p.K1016fs
p.K1016fs
p.K1016fs
p.K1016fs		-8.261E-6Wang2020 T
ADNP     ACGC_SX0083.p1chr20:
49510358-49510358		ACexonicUnknownstopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.T893G
c.T893G
c.T893G
c.T893G		p.L298X
p.L298X
p.L298X
p.L298X		40.0-Wang2020 T
ADNP     ACGC_M01853chr20:
49508203-49508203		CCTexonicMaternalframeshift insertionNM_001282532
NM_181442
NM_015339
NM_001282531		c.3047dupA
c.3047dupA
c.3047dupA
c.3047dupA		p.K1016fs
p.K1016fs
p.K1016fs
p.K1016fs		-8.261E-6Wang2020 T
ADNP     AGRE_AU019604chr20:
49508203-49508203		CCTexonicMaternalframeshift insertionNM_001282532
NM_181442
NM_015339
NM_001282531		c.3047dupA
c.3047dupA
c.3047dupA
c.3047dupA		p.K1016fs
p.K1016fs
p.K1016fs
p.K1016fs		-8.261E-6Wang2020 T
ADNP     Leuven_56744chr20:
49518645-49518645		TAexonicUnknownnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.A110T
c.A110T
c.A110T
c.A110T		p.D37V
p.D37V
p.D37V
p.D37V		27.4-Wang2020 T
ADNP     ACGC_HEN0007.p1chr20:
49508932-49508932		CCTexonicUnknownframeshift insertionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2318dupA
c.2318dupA
c.2318dupA
c.2318dupA		p.K773fs
p.K773fs
p.K773fs
p.K773fs		--Wang2020 T
ADNP     ACGC_HN0024.p1chr20:
49509063-49509063		GAexonicUnknownstopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2188T
c.C2188T
c.C2188T
c.C2188T		p.R730X
p.R730X
p.R730X
p.R730X		41.0-Wang2020 T
ADNP     ACGC_GX0639.p1chr20:
49508869-49508869		CTexonicUnknownstopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.G2382A
c.G2382A
c.G2382A
c.G2382A		p.W794X
p.W794X
p.W794X
p.W794X		46.0-Wang2020 T
ADNP     SAGE_BK_720_01chr20:
49510431-49510432		TGTexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.819delC
c.819delC
c.819delC
c.819delC		p.P273fs
p.P273fs
p.P273fs
p.P273fs		--Wang2020 T
ADNP     AU4242302chr20:
49505407-49505407		CTdownstreamDe novo--Trost2022 G
Yuen2017 G
ADNP     SD0063.p1chr20:
49508024-49508024		TCexonicPaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.A3227G
c.A3227G
c.A3227G
c.A3227G		p.Q1076R
p.Q1076R
p.Q1076R
p.Q1076R		11.65-Guo2018 T
ADNP     SAGE_BK_683_01chr20:
49510149-49510149		GAexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.C1102T
c.C1102T
c.C1102T
c.C1102T		p.Q368X
p.Q368X
p.Q368X
p.Q368X		41.0-Wang2020 T
ADNP     SAGE_BK767-01chr20:
49518564-49518564		GGTexonicDe novoframeshift insertionNM_001282532
NM_181442
NM_015339
NM_001282531		c.190dupA
c.190dupA
c.190dupA
c.190dupA		p.T64fs
p.T64fs
p.T64fs
p.T64fs		--Wang2020 T
ADNP     ACGC_M27882chr20:
49510619-49510619		ATexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.T632A
c.T632A
c.T632A
c.T632A		p.L211X
p.L211X
p.L211X
p.L211X		39.0-Wang2020 T
ADNP     M15242chr20:
49507974-49507974		CTexonicMaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.G3277A
c.G3277A
c.G3277A
c.G3277A		p.A1093T
p.A1093T
p.A1093T
p.A1093T		0.019-Guo2018 T
Wang2016 T
ADNP     TASC_211-5367-3chr20:
49508081-49508081		ATexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.T3170A
c.T3170A
c.T3170A
c.T3170A		p.L1057X
p.L1057X
p.L1057X
p.L1057X		45.0-Wang2020 T
ADNP     M01853 Complex Event; expand row to view variants  Maternalframeshift insertion, nonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531
NM_001282532
NM_181442
NM_015339
NM_001282531		c.3047dupA
c.3047dupA
c.3047dupA
c.3047dupA
c.G3048C
c.G3048C
c.G3048C
c.G3048C		p.K1016fs
p.K1016fs
p.K1016fs
p.K1016fs
p.K1016N
p.K1016N
p.K1016N
p.K1016N		11.658.261E-6Guo2018 T
Wang2016 T
ADNP     M27882chr20:
49510619-49510619		ATexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.T632A
c.T632A
c.T632A
c.T632A		p.L211X
p.L211X
p.L211X
p.L211X		39.0-Guo2018 T
Stessman2017 T
Wang2016 T
ADNP     HEN0265.p1chr20:
49510232-49510232		CAexonicPaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.G1019T
c.G1019T
c.G1019T
c.G1019T		p.G340V
p.G340V
p.G340V
p.G340V		8.1873.295E-5Guo2018 T
ADNP     mAGRE4099chr20:
49508203-49508203		CCTexonicMaternalframeshift insertionNM_001282532
NM_181442
NM_015339
NM_001282531		c.3047dupA
c.3047dupA
c.3047dupA
c.3047dupA		p.K1016fs
p.K1016fs
p.K1016fs
p.K1016fs		-8.261E-6Cirnigliaro2023 G
ADNP     GX0558.p1chr20:
49509029-49509029		ACexonicPaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.T2222G
c.T2222G
c.T2222G
c.T2222G		p.F741C
p.F741C
p.F741C
p.F741C		12.21-Guo2018 T
ADNP     HEN0250.p1chr20:
49511018-49511018		GAexonicPaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.C233T
c.C233T
c.C233T
c.C233T		p.A78V
p.A78V
p.A78V
p.A78V		12.738.454E-6Guo2018 T
ADNP     SP0130990chr20:
49510708-49510712		CCTAACexonicframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.539_542del
c.539_542del
c.539_542del
c.539_542del		p.V180fs
p.V180fs
p.V180fs
p.V180fs		--Zhou2022 GE
ADNP     SP0075687chr20:
49510708-49510712		CCTAACexonicframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.539_542del
c.539_542del
c.539_542del
c.539_542del		p.V180fs
p.V180fs
p.V180fs
p.V180fs		--Zhou2022 GE
ADNP     SP0036637chr20:
49509716-49509716		ACexonicnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.T1535G
c.T1535G
c.T1535G
c.T1535G		p.L512R
p.L512R
p.L512R
p.L512R		17.32-Zhou2022 GE
ADNP     SP0042813chr20:
49509683-49509683		TGexonicnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.A1568C
c.A1568C
c.A1568C
c.A1568C		p.D523A
p.D523A
p.D523A
p.D523A		17.1-Zhou2022 GE
ADNP     M16139chr20:
49510040-49510040		GAexonicPaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.C1211T
c.C1211T
c.C1211T
c.C1211T		p.S404L
p.S404L
p.S404L
p.S404L		8.4788.238E-6Guo2018 T
Wang2016 T
ADNP     M15147chr20:
49508976-49508976		GAexonicPaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2275T
c.C2275T
c.C2275T
c.C2275T		p.H759Y
p.H759Y
p.H759Y
p.H759Y		7.644-Guo2018 T
Wang2016 T
ADNP     ASD-821chr20:
49520532-49520532		AGexonicDe novononsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.T2C
c.T2C
c.T2C
c.T2C		p.M1T
p.M1T
p.M1T
p.M1T		24.3-Du2018 E
ADNP     D’Gama2015:797chr20:
49507970-49507970		CAexonicUnknownnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.G3281T
c.G3281T
c.G3281T
c.G3281T		p.G1094V
p.G1094V
p.G1094V
p.G1094V		16.38.633E-6D’Gama2015 T
ADNP     M30823chr20:
49509029-49509029		ACexonicMaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.T2222G
c.T2222G
c.T2222G
c.T2222G		p.F741C
p.F741C
p.F741C
p.F741C		12.21-Guo2018 T
ADNP     GX0033.p1chr20:
49508505-49508505		TCexonicMaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.A2746G
c.A2746G
c.A2746G
c.A2746G		p.I916V
p.I916V
p.I916V
p.I916V		0.578-Guo2018 T
ADNP     GX0091.p1chr20:
49508136-49508136		AGexonicMaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.T3115C
c.T3115C
c.T3115C
c.T3115C		p.F1039L
p.F1039L
p.F1039L
p.F1039L		13.95-Guo2018 T
ADNP     GX0403.p1chr20:
49508393-49508393		GAexonicMaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2858T
c.C2858T
c.C2858T
c.C2858T		p.S953F
p.S953F
p.S953F
p.S953F		11.59-Guo2018 T
ADNP     GX0309.p1chr20:
49508318-49508318		GAexonicMaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2933T
c.C2933T
c.C2933T
c.C2933T		p.S978F
p.S978F
p.S978F
p.S978F		17.38-Guo2018 T
ADNP     SD0087.p1chr20:
49509095-49509096		TATexonicUnknownframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2155delT
c.2155delT
c.2155delT
c.2155delT		p.Y719fs
p.Y719fs
p.Y719fs
p.Y719fs		--Guo2018 T
ADNP     SP0131947chr20:
49510393-49510398		CCTTGGCexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.853_857del
c.853_857del
c.853_857del
c.853_857del		p.P285fs
p.P285fs
p.P285fs
p.P285fs		--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
ADNP     SP0036574chr20:
49510203-49510205		CCACexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.1046_1047del
c.1046_1047del
c.1046_1047del
c.1046_1047del		p.L349fs
p.L349fs
p.L349fs
p.L349fs		--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
ADNP     SP0082696chr20:
49510916-49510916		CCTexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.334_335insA
c.334_335insA
c.334_335insA
c.334_335insA		p.C112_T113delinsX
p.C112_T113delinsX
p.C112_T113delinsX
p.C112_T113delinsX		--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
ADNP     SP0104108chr20:
49510888-49510890		CAACexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.361_362del
c.361_362del
c.361_362del
c.361_362del		p.L121fs
p.L121fs
p.L121fs
p.L121fs		--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
ADNP     SSC08311chr20:
49509094-49509094		GGTexonicstopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.2156dupA
c.2156dupA
c.2156dupA
c.2156dupA		p.Y719_E720delinsX
p.Y719_E720delinsX
p.Y719_E720delinsX
p.Y719_E720delinsX		--Antaki2022 GE
ADNP     SP0000938chr20:
49508963-49508964		GAGexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2287delT
c.2287delT
c.2287delT
c.2287delT		p.S763fs
p.S763fs
p.S763fs
p.S763fs		--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
ADNP     SSC04121chr20:
49510027-49510029		CTTCexonicframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.1222_1223del
c.1222_1223del
c.1222_1223del
c.1222_1223del		p.K408fs
p.K408fs
p.K408fs
p.K408fs		--Antaki2022 GE
ADNP     SP0086863chr20:
49509094-49509094		GCexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2157G
c.C2157G
c.C2157G
c.C2157G		p.Y719X
p.Y719X
p.Y719X
p.Y719X		38.0-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
ADNP     AU024104chr20:
49537528-49537528		GAintronicDe novo--Trost2022 G
Yuen2017 G
ADNP     M27874chr20:
49510010-49510010		TAexonicMaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.A1241T
c.A1241T
c.A1241T
c.A1241T		p.Q414L
p.Q414L
p.Q414L
p.Q414L		14.171.648E-5Guo2018 T
Wang2016 T
ADNP     M8121chr20:
49507974-49507974		CTexonicUnknownnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.G3277A
c.G3277A
c.G3277A
c.G3277A		p.A1093T
p.A1093T
p.A1093T
p.A1093T		0.019-Wang2016 T
ADNP     SP0001740chr20:
49508976-49509001		GACCCTTGGGGTCTAAAGCTAAAACAGexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2250_2274del
c.2250_2274del
c.2250_2274del
c.2250_2274del		p.V750fs
p.V750fs
p.V750fs
p.V750fs		--Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
ADNP     Leuven2_62538053chr20:
49509963-49509963		CCAexonicUnknownframeshift insertionNM_001282532
NM_181442
NM_015339
NM_001282531		c.1287dupT
c.1287dupT
c.1287dupT
c.1287dupT		p.A430fs
p.A430fs
p.A430fs
p.A430fs		--Wang2020 T
ADNP     Leuven2_85803369chr20:
49509847-49509849		TTCTexonicUnknownframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.1402_1403del
c.1402_1403del
c.1402_1403del
c.1402_1403del		p.E468fs
p.E468fs
p.E468fs
p.E468fs		--Wang2020 T
ADNP     08C76513chr20:
49508081-49508081		ATexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.T3170A
c.T3170A
c.T3170A
c.T3170A		p.L1057X
p.L1057X
p.L1057X
p.L1057X		45.0-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ADNP     SAGE_BK_714_01chr20:
49508751-49508755		CTTTACexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2496_2499del
c.2496_2499del
c.2496_2499del
c.2496_2499del		p.N832fs
p.N832fs
p.N832fs
p.N832fs		--Wang2020 T
ADNP     SAGE_566.03chr20:
49510911-49510912		AGAexonicUnknownframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.339delC
c.339delC
c.339delC
c.339delC		p.T113fs
p.T113fs
p.T113fs
p.T113fs		--Wang2020 T
ADNP     SAGE_569.03chr20:
49510203-49510205		CCACexonicUnknownframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.1046_1047del
c.1046_1047del
c.1046_1047del
c.1046_1047del		p.L349fs
p.L349fs
p.L349fs
p.L349fs		--Wang2020 T
ADNP     12130.p1chr20:
49510027-49510029		CTTCexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.1222_1223del
c.1222_1223del
c.1222_1223del
c.1222_1223del		p.K408fs
p.K408fs
p.K408fs
p.K408fs		--Dong2014 E
Helsmoortel2014 T
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2012b E
O’Roak2014 T
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
ADNP     1-0382-003chr20:
49507667-49507667		TCUTR3De novo--Trost2022 G
Yuen2017 G
ADNP     Naples_5941chr20:
49509094-49509094		GCexonicUnknownstopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2157G
c.C2157G
c.C2157G
c.C2157G		p.Y719X
p.Y719X
p.Y719X
p.Y719X		38.0-Wang2020 T
ADNP     SP0171168chr20:
49509657-49509657		GAexonicnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.C1594T
c.C1594T
c.C1594T
c.C1594T		p.R532W
p.R532W
p.R532W
p.R532W		14.86-Zhou2022 GE
ADNP     SP0197130chr20:
49509063-49509063		GAexonicstopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2188T
c.C2188T
c.C2188T
c.C2188T		p.R730X
p.R730X
p.R730X
p.R730X		41.0-Zhou2022 GE
ADNP     SP0227282chr20:
49510536-49510536		GCexonicnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.C715G
c.C715G
c.C715G
c.C715G		p.H239D
p.H239D
p.H239D
p.H239D		14.56-Zhou2022 GE
ADNP     12707.p1chr20:
49507972-49507972		GGGGexonicMaternalframeshift insertionNM_001282532
NM_181442
NM_015339
NM_001282531		c.3278_3279insCC
c.3278_3279insCC
c.3278_3279insCC
c.3278_3279insCC		p.A1093fs
p.A1093fs
p.A1093fs
p.A1093fs		--O’Roak2012a T
ADNP     M03533chr20:
49508963-49508963		GAexonicMaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2288T
c.C2288T
c.C2288T
c.C2288T		p.S763F
p.S763F
p.S763F
p.S763F		31.0-Guo2018 T
Wang2016 T
ADNP     SP0196378chr20:
49510149-49510149		GAexonicstopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.C1102T
c.C1102T
c.C1102T
c.C1102T		p.Q368X
p.Q368X
p.Q368X
p.Q368X		41.0-Zhou2022 GE
ADNP     M16274chr20:
49508291-49508291		TCexonicPaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.A2960G
c.A2960G
c.A2960G
c.A2960G		p.N987S
p.N987S
p.N987S
p.N987S		11.081.648E-5Guo2018 T
Wang2016 T
ADNP     M15199chr20:
49508199-49508199		TCexonicPaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.A3052G
c.A3052G
c.A3052G
c.A3052G		p.T1018A
p.T1018A
p.T1018A
p.T1018A		0.1948.237E-6Guo2018 T
Wang2016 T
ADNP     M08121chr20:
49507974-49507974		CTexonicPaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.G3277A
c.G3277A
c.G3277A
c.G3277A		p.A1093T
p.A1093T
p.A1093T
p.A1093T		0.019-Guo2018 T
ADNP     SF0000938.p1chr20:
49508963-49508964		GAGexonicframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2287delT
c.2287delT
c.2287delT
c.2287delT		p.S763fs
p.S763fs
p.S763fs
p.S763fs		--Wang2020 T
ADNP     M18390chr20:
49508283-49508283		CTexonicPaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.G2968A
c.G2968A
c.G2968A
c.G2968A		p.E990K
p.E990K
p.E990K
p.E990K		15.847.414E-5Guo2018 T
Wang2016 T
ADNP     SAGE_TIGER_T204-03chr20:
49509094-49509094		GTexonicUnknownstopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2157A
c.C2157A
c.C2157A
c.C2157A		p.Y719X
p.Y719X
p.Y719X
p.Y719X		38.0-Wang2020 T
ADNP     SAGE_BK755-01chr20:
49509094-49509094		GTexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2157A
c.C2157A
c.C2157A
c.C2157A		p.Y719X
p.Y719X
p.Y719X
p.Y719X		38.0-Wang2020 T
ADNP     SF0036637.p1chr20:
49509716-49509716		ACexonicnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.T1535G
c.T1535G
c.T1535G
c.T1535G		p.L512R
p.L512R
p.L512R
p.L512R		17.32-Wang2020 T
ADNP     SF0036637.p1chr20:
49509711-49509711		ACexonicnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.T1540G
c.T1540G
c.T1540G
c.T1540G		p.C514G
p.C514G
p.C514G
p.C514G		16.78-Wang2020 T
ADNP     08C73958chr20:
49510224-49510224		CCAexonicDe novoframeshift insertionNM_001282532
NM_181442
NM_015339
NM_001282531		c.1026dupT
c.1026dupT
c.1026dupT
c.1026dupT		p.V343fs
p.V343fs
p.V343fs
p.V343fs		--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ADNP     SF0131947.p1chr20:
49510393-49510398		CCTTGGCexonicframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.853_857del
c.853_857del
c.853_857del
c.853_857del		p.P285fs
p.P285fs
p.P285fs
p.P285fs		--Wang2020 T
ADNP     SF0036574.p1chr20:
49510203-49510205		CCACexonicframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.1046_1047del
c.1046_1047del
c.1046_1047del
c.1046_1047del		p.L349fs
p.L349fs
p.L349fs
p.L349fs		--Wang2020 T
ADNP     M03713chr20:
49510033-49510033		CA/CexonicPaternal--Guo2018 T
ADNP     SF0041760.p1chr20:
49509094-49509094		GTexonicstopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2157A
c.C2157A
c.C2157A
c.C2157A		p.Y719X
p.Y719X
p.Y719X
p.Y719X		38.0-Wang2020 T
ADNP     M08083chr20:
49508708-49508708		TCexonicPaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.A2543G
c.A2543G
c.A2543G
c.A2543G		p.N848S
p.N848S
p.N848S
p.N848S		16.12-Guo2018 T
ADNP     SF0086863.p1chr20:
49509094-49509094		GCexonicstopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2157G
c.C2157G
c.C2157G
c.C2157G		p.Y719X
p.Y719X
p.Y719X
p.Y719X		38.0-Wang2020 T
ADNP     SF0042813.p1chr20:
49509683-49509683		TGexonicnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.A1568C
c.A1568C
c.A1568C
c.A1568C		p.D523A
p.D523A
p.D523A
p.D523A		17.1-Wang2020 T
ADNP     SF0081420.p1chr20:
49509094-49509094		GTexonicstopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2157A
c.C2157A
c.C2157A
c.C2157A		p.Y719X
p.Y719X
p.Y719X
p.Y719X		38.0-Wang2020 T
ADNP     ACGC_M03533chr20:
49508963-49508963		GAexonicMaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2288T
c.C2288T
c.C2288T
c.C2288T		p.S763F
p.S763F
p.S763F
p.S763F		31.0-Wang2020 T
ADNP     SF0103630.p3chr20:
49510998-49510998		AGexonicnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.T253C
c.T253C
c.T253C
c.T253C		p.F85L
p.F85L
p.F85L
p.F85L		14.19-Wang2020 T
ADNP     COL1111.03chr20:
49510027-49510029		CTTCexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.1222_1223del
c.1222_1223del
c.1222_1223del
c.1222_1223del		p.K408fs
p.K408fs
p.K408fs
p.K408fs		--Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ADNP     G01-GEA-207-HIchr20:
49508823-49508827		TCTTCTexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2424_2427del
c.2424_2427del
c.2424_2427del
c.2424_2427del		p.R808fs
p.R808fs
p.R808fs
p.R808fs		--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ADNP     SF0130990.p1chr20:
49510708-49510712		CCTAACexonicframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.539_542del
c.539_542del
c.539_542del
c.539_542del		p.V180fs
p.V180fs
p.V180fs
p.V180fs		--Wang2020 T
ADNP     SF0075687.p1chr20:
49510708-49510712		CCTAACexonicframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.539_542del
c.539_542del
c.539_542del
c.539_542del		p.V180fs
p.V180fs
p.V180fs
p.V180fs		--Wang2020 T
ADNP     SF0082696.p1chr20:
49510916-49510916		CCTexonicstopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.334_335insA
c.334_335insA
c.334_335insA
c.334_335insA		p.C112_T113delinsX
p.C112_T113delinsX
p.C112_T113delinsX
p.C112_T113delinsX		--Wang2020 T
ADNP     G01_GEA516HIchr20:
49508751-49508755		CTTTACexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2496_2499del
c.2496_2499del
c.2496_2499del
c.2496_2499del		p.N832fs
p.N832fs
p.N832fs
p.N832fs		--Fu2022 E
ADNP     M13413chr20:
49508156-49508156		GCexonicMaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.C3095G
c.C3095G
c.C3095G
c.C3095G		p.S1032C
p.S1032C
p.S1032C
p.S1032C		15.468.238E-5Wang2016 T
ADNP     SF0104108.p1chr20:
49510888-49510890		CAACexonicframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.361_362del
c.361_362del
c.361_362del
c.361_362del		p.L121fs
p.L121fs
p.L121fs
p.L121fs		--Wang2020 T
ADNP     1-0353-003chr20:
49508081-49508081		ATexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.T3170A
c.T3170A
c.T3170A
c.T3170A		p.L1057X
p.L1057X
p.L1057X
p.L1057X		45.0-Wang2020 T
Yuen2017 G
Zhou2022 GE
ADNP     M17485chr20:
49508436-49508436		TGexonicUnknownnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.A2815C
c.A2815C
c.A2815C
c.A2815C		p.I939L
p.I939L
p.I939L
p.I939L		0.1172.0E-4Wang2016 T
ADNP     IGM1648671chr20:
49510505-49510505		TCexonicDe novononsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.A746G
c.A746G
c.A746G
c.A746G		p.Y249C
p.Y249C
p.Y249C
p.Y249C		11.49-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ADNP     211-5367-3chr20:
49508081-49508081		ATexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.T3170A
c.T3170A
c.T3170A
c.T3170A		p.L1057X
p.L1057X
p.L1057X
p.L1057X		45.0-O’Roak2014 T
Stessman2017 T
Stessman2017 T
ADNP     1986-24087chr20:
49508452-49508453		ACAexonicframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2798delG
c.2798delG
c.2798delG
c.2798delG		p.G933fs
p.G933fs
p.G933fs
p.G933fs		--Callaghan2019 G
ADNP     Krgovic2022:021055chr20:
49509063-49509063		GAexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2188T
c.C2188T
c.C2188T
c.C2188T		p.R730X
p.R730X
p.R730X
p.R730X		41.0-Krgovic2022 E
ADNP     2-0028-003 Complex Event; expand row to view variants  De novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531
NM_001282532
NM_181442
NM_015339
NM_001282531		c.1035_1038del
c.1035_1038del
c.1035_1038del
c.1035_1038del
c.1031_1034del
c.1031_1034del
c.1031_1034del
c.1031_1034del		p.Q345fs
p.Q345fs
p.Q345fs
p.Q345fs
p.G344fs
p.G344fs
p.G344fs
p.G344fs		--Trost2022 G
Wang2020 T
Yuen2016 G
Yuen2017 G
Zhou2022 GE
ADNP     Alvarez-Mora2016:ASD-23chr20:
49509924-49509924		TCexonicUnknownnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.A1327G
c.A1327G
c.A1327G
c.A1327G		p.T443A
p.T443A
p.T443A
p.T443A		12.1-Alvarez-Mora2016 T
ADNP     Cherot2017:1chr20:
49510578-49510578		GAexonicUnknownstopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.C673T
c.C673T
c.C673T
c.C673T		p.R225X
p.R225X
p.R225X
p.R225X		39.0-Cherot2017 E
ADNP     Krgovic2022:020213chr20:
49508755-49508759		ATTTAAexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2492_2495del
c.2492_2495del
c.2492_2495del
c.2492_2495del		p.L831fs
p.L831fs
p.L831fs
p.L831fs		--Krgovic2022 E
ADNP     Krgovic2022:027819chr20:
49508182-49508184		TCTTexonicUnknownframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.3067_3068del
c.3067_3068del
c.3067_3068del
c.3067_3068del		p.R1023fs
p.R1023fs
p.R1023fs
p.R1023fs		--Krgovic2022 E
ADNP     ASC_CA_75_Achr20:
49508963-49508963		GGAexonicDe novoframeshift insertionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2287dupT
c.2287dupT
c.2287dupT
c.2287dupT		p.S763fs
p.S763fs
p.S763fs
p.S763fs		--Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ADNP     HEN0171.p1chr20:
49508283-49508283		CTexonicMaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.G2968A
c.G2968A
c.G2968A
c.G2968A		p.E990K
p.E990K
p.E990K
p.E990K		15.847.414E-5Guo2018 T
ADNP     HEN0258.p1chr20:
49510164-49510164		ATexonicMaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.T1087A
c.T1087A
c.T1087A
c.T1087A		p.S363T
p.S363T
p.S363T
p.S363T		11.02-Guo2018 T
ADNP     SX0011.p1chr20:
49508442-49508442		CTexonicMaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.G2809A
c.G2809A
c.G2809A
c.G2809A		p.E937K
p.E937K
p.E937K
p.E937K		0.4857.419E-5Guo2018 T
ADNP     Mahjani2021:95chr20:
49508932-49508934		CTTCexonicframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2317_2318del
c.2317_2318del
c.2317_2318del
c.2317_2318del		p.K773fs
p.K773fs
p.K773fs
p.K773fs		--Mahjani2021 E
ADNP     SP0041760chr20:
49509094-49509094		GTexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2157A
c.C2157A
c.C2157A
c.C2157A		p.Y719X
p.Y719X
p.Y719X
p.Y719X		38.0-Fu2022 E
Trost2022 G
Zhou2022 GE
ADNP     GX0536.p1chr20:
49510604-49510604		CTexonicMaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.G647A
c.G647A
c.G647A
c.G647A		p.R216Q
p.R216Q
p.R216Q
p.R216Q		9.9748.238E-6Guo2018 T
ADNP     DEASD_0149_001chr20:
49508382-49508386		CCTCACexonicUnknown, De novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2865_2868del
c.2865_2868del
c.2865_2868del
c.2865_2868del		p.S955fs
p.S955fs
p.S955fs
p.S955fs		--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
ADNP     DEASD_0076_001chr20:
49510602-49510610		CTCGGGCATCexonicUnknown, De novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.641_648del
c.641_648del
c.641_648del
c.641_648del		p.N214fs
p.N214fs
p.N214fs
p.N214fs		--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
ADNP     SP0071775chr20:
49509334-49509334		AGexonicDe novosynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.T1917C
c.T1917C
c.T1917C
c.T1917C		p.L639L
p.L639L
p.L639L
p.L639L		--Fu2022 E
Trost2022 G
Zhou2022 GE
ADNP     SP0093864chr20:
49509094-49509094		GTexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2157A
c.C2157A
c.C2157A
c.C2157A		p.Y719X
p.Y719X
p.Y719X
p.Y719X		38.0-Fu2022 E
Trost2022 G
Zhou2022 GE
ADNP     SP0081420chr20:
49509094-49509094		GTexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2157A
c.C2157A
c.C2157A
c.C2157A		p.Y719X
p.Y719X
p.Y719X
p.Y719X		38.0-Fu2022 E
Trost2022 G
Zhou2022 GE
ADNP     SP0103632chr20:
49510998-49510998		AGexonicDe novononsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.T253C
c.T253C
c.T253C
c.T253C		p.F85L
p.F85L
p.F85L
p.F85L		14.19-Fu2022 E
Zhou2022 GE
ADNP     213-8763-103chr20:
49510224-49510224		CCAexonicDe novoframeshift insertionNM_001282532
NM_181442
NM_015339
NM_001282531		c.1026dupT
c.1026dupT
c.1026dupT
c.1026dupT		p.V343fs
p.V343fs
p.V343fs
p.V343fs		--O’Roak2014 T
ADNP     SP0036637chr20:
49509711-49509711		ACexonicDe novononsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.T1540G
c.T1540G
c.T1540G
c.T1540G		p.C514G
p.C514G
p.C514G
p.C514G		16.78-Fu2022 E
Zhou2022 GE
ADNP     1-0402-004chr20:
49521044-49521047		TGAGCGCGCintronicDe novo--Trost2022 G
ADNP     SP0230886chr20:
49510774-49510774		AGexonicDe novosynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.T477C
c.T477C
c.T477C
c.T477C		p.S159S
p.S159S
p.S159S
p.S159S		--Trost2022 G
ADNP     56744chr20:
49518645-49518645		TAexonicUnknownnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.A110T
c.A110T
c.A110T
c.A110T		p.D37V
p.D37V
p.D37V
p.D37V		27.4-Stessman2017 T
ADNP     SAGE_BK_673_01chr20:
49510963-49510964		GAGexonicUnknownframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.287delT
c.287delT
c.287delT
c.287delT		p.V96fs
p.V96fs
p.V96fs
p.V96fs		--Wang2020 T
ADNP     ACGC_SD0087.p1chr20:
49509095-49509096		TATexonicUnknownframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2155delT
c.2155delT
c.2155delT
c.2155delT		p.Y719fs
p.Y719fs
p.Y719fs
p.Y719fs		--Wang2020 T
ADNP     M8258chr20:
49508079-49508079		AGexonicUnknownnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.T3172C
c.T3172C
c.T3172C
c.T3172C		p.S1058P
p.S1058P
p.S1058P
p.S1058P		5.8718.24E-6Wang2016 T
ADNP     1031chr20:
49542290-49542290		GTintronicDe novo--Trost2022 G
ADNP     D4S2Z-01chr20:
49529849-49529849		TAintronicDe novo--Trost2022 G
ADNP     2-1198-003chr20:
49526763-49526763		CCAintronicDe novo--Trost2022 G
Source Variant Information

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Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
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