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Results for "TSC2"

Variant Events: 113

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
TSC2     M17674chr16:
2100431-2100431		CTexonicPaternal, Unknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C169T
c.C169T
c.C169T		p.R57C
p.R57C
p.R57C		18.39-Guo2018 T
Stessman2017 T
Wang2016 T
TSC2     M17608chr16:
2138133-2138133		AGexonicUnknownnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.A4952G
c.A5084G
c.A5153G		p.H1651R
p.H1695R
p.H1718R		13.56-Wang2016 T
TSC2     13862.p1chr16:
2115563-2115563		GTexonicDe novononsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G1643T
c.G1643T
c.G1643T		p.R548M
p.R548M
p.R548M		19.51-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Zhou2022 GE
TSC2     12621.p1chr16:
2136269-2136269		CTexonicDe novononsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.C4537T
c.C4669T
c.C4738T		p.R1513W
p.R1557W
p.R1580W		15.981.672E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
TSC2     M8647chr16:
2124210-2124210		GAexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G2365A
c.G2365A
c.G2365A		p.V789I
p.V789I
p.V789I		17.594.188E-5Wang2016 T
TSC2     SP0167571chr16:
2107105-2107105		GCsplicingDe novosplicing16.87-Trost2022 G
Zhou2022 GE
TSC2     SP0061516chr16:
2136739-2136739		TCexonicnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.T4655C
c.T4787C
c.T4856C		p.F1552S
p.F1596S
p.F1619S		23.3-Zhou2022 GE
TSC2     SP0353334chr16:
2126171-2126171		GCexonicnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G2742C
c.G2742C
c.G2742C		p.K914N
p.K914N
p.K914N		17.97-Zhou2022 GE
TSC2     AU4250301chr16:
2121882-2121882		GCexonicDe novononsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G2044C
c.G2044C
c.G2044C		p.G682R
p.G682R
p.G682R		19.11-Yuen2017 G
Zhou2022 GE
TSC2     Husson2020:79chr16:
2129329-2129333		GTTGGGexonicframeshift deletionNM_001077183
NM_000548
NM_001114382		c.3053_3056del
c.3185_3188del
c.3185_3188del		p.V1018fs
p.V1062fs
p.V1062fs		--Husson2020 E
TSC2     SP0147177chr16:
2121922-2121924		AGTAexonicframeshift deletionNM_000548
NM_001077183
NM_001114382		c.2085_2086del
c.2085_2086del
c.2085_2086del		p.Q695fs
p.Q695fs
p.Q695fs		--Zhou2022 GE
TSC2     SP0263334chr16:
2121795-2121795		ATexonicstopgainNM_000548
NM_001077183
NM_001114382		c.A1957T
c.A1957T
c.A1957T		p.R653X
p.R653X
p.R653X		32.0-Zhou2022 GE
TSC2     SP0339536chr16:
2124318-2124319		GTGexonicframeshift deletionNM_000548
NM_001077183
NM_001114382		c.2474delT
c.2474delT
c.2474delT		p.V825fs
p.V825fs
p.V825fs		--Zhou2022 GE
TSC2     SP0147177chr16:
2121927-2121927		TGexonicnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.T2089G
c.T2089G
c.T2089G		p.L697V
p.L697V
p.L697V		13.56-Zhou2022 GE
TSC2     M27891chr16:
2098606-2098606		CTUTR5Maternal2.572-Guo2018 T
Wang2016 T
TSC2     AU017403chr16:
2110776-2110776		CGexonicMaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C1081G
c.C1081G
c.C1081G		p.L361V
p.L361V
p.L361V		16.97-Zhou2019 T
TSC2     M23096chr16:
2138324-2138324		CTexonicMaternalnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.C5056T
c.C5188T
c.C5257T		p.R1686W
p.R1730W
p.R1753W		16.032.509E-5Guo2018 T
Wang2016 T
TSC2     M19723chr16:
2106706-2106706		CTexonicMaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C710T
c.C710T
c.C710T		p.P237L
p.P237L
p.P237L		22.83.299E-5Guo2018 T
Wang2016 T
TSC2     M15076chr16:
2107160-2107160		TCexonicMaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.T829C
c.T829C
c.T829C		p.C277R
p.C277R
p.C277R		14.32-Guo2018 T
Wang2016 T
TSC2     AU039303chr16:
2136283-2136295		GAAGGACTGCCAGGexonicDe novononframeshift deletionNM_001077183
NM_001114382
NM_000548		c.4552_4563del
c.4684_4695del
c.4753_4764del		p.1518_1521del
p.1562_1565del
p.1585_1588del		--Zhou2019 T
TSC2     REACH000529chr16:
2106196-2106196		GAsplicingDe novosplicing12.72-Antaki2022 GE
Trost2022 G
Zhou2022 GE
TSC2     M17590chr16:
2112989-2112989		GAexonicPaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G1378A
c.G1378A
c.G1378A		p.A460T
p.A460T
p.A460T		15.920.0024Guo2018 T
Wang2016 T
TSC2     M13338chr16:
2115530-2115530		GAexonicPaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G1610A
c.G1610A
c.G1610A		p.R537H
p.R537H
p.R537H		11.152.474E-5Guo2018 T
Wang2016 T
TSC2     M15096chr16:
2104360-2104360		GAexonicPaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G400A
c.G400A
c.G400A		p.E134K
p.E134K
p.E134K		14.26-Guo2018 T
Wang2016 T
TSC2     M20655chr16:
2104384-2104384		GAexonicPaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G424A
c.G424A
c.G424A		p.V142I
p.V142I
p.V142I		19.08-Guo2018 T
Wang2016 T
TSC2     M16114chr16:
2135023-2135023		AGexonicPaternalnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.A4364G
c.A4496G
c.A4565G		p.N1455S
p.N1499S
p.N1522S		12.348.324E-5Guo2018 T
Wang2016 T
TSC2     M08840chr16:
2129284-2129284		GAexonicPaternalnonsynonymous SNVNM_001077183
NM_000548
NM_001114382		c.G3007A
c.G3139A
c.G3139A		p.V1003M
p.V1047M
p.V1047M		16.061.665E-5Guo2018 T
TSC2     M8840chr16:
2129284-2129284		GAexonicPaternalnonsynonymous SNVNM_001077183
NM_000548
NM_001114382		c.G3007A
c.G3139A
c.G3139A		p.V1003M
p.V1047M
p.V1047M		16.061.665E-5Wang2016 T
TSC2     M23280chr16:
2134692-2134692		AGexonicPaternalnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.A4268G
c.A4400G
c.A4469G		p.E1423G
p.E1467G
p.E1490G		19.032.0E-4Guo2018 T
Wang2016 T
TSC2     M08458chr16:
2138229-2138229		TCexonicPaternalnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.T4961C
c.T5093C
c.T5162C		p.M1654T
p.M1698T
p.M1721T		15.66-Guo2018 T
TSC2     Chen2021:74chr16:
2121535-2121535		CTexonicPaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C1864T
c.C1864T
c.C1864T		p.R622W
p.R622W
p.R622W		28.4-Chen2021 GET
TSC2     PN400514chr16:
2135250-2135250		CTexonicUnknownnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.C4388T
c.C4520T
c.C4589T		p.S1463L
p.S1507L
p.S1530L		34.0-Leblond2019 E
TSC2     M20409chr16:
2131656-2131656		ATexonicMaternalnonsynonymous SNVNM_001077183
NM_000548
NM_001114382		c.A3539T
c.A3671T
c.A3671T		p.N1180I
p.N1224I
p.N1224I		21.5-Guo2018 T
Wang2016 T
TSC2     M8082chr16:
2138574-2138574		TCexonicUnknownnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.T5186C
c.T5318C
c.T5387C		p.L1729P
p.L1773P
p.L1796P		17.24-Wang2016 T
TSC2     M21572chr16:
2106226-2106226		CTexonicPaternal, Unknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C629T
c.C629T
c.C629T		p.A210V
p.A210V
p.A210V		2.1378.294E-6Guo2018 T
Wang2016 T
TSC2     D’Gama2015:4231chr16:
2138267-2138267		GAexonicUnknownnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.G4999A
c.G5131A
c.G5200A		p.D1667N
p.D1711N
p.D1734N		25.08.307E-6D’Gama2015 T
TSC2     PN400111chr16:
2135250-2135250		CTexonicUnknownnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.C4388T
c.C4520T
c.C4589T		p.S1463L
p.S1507L
p.S1530L		34.0-Leblond2019 E
TSC2     M10087chr16:
2131656-2131656		ATexonicUnknownnonsynonymous SNVNM_001077183
NM_000548
NM_001114382		c.A3539T
c.A3671T
c.A3671T		p.N1180I
p.N1224I
p.N1224I		21.5-Wang2016 T
TSC2     211-5443-5chr16:
2134574-2134574		CTexonicUnknownnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.C4150T
c.C4282T
c.C4351T		p.R1384C
p.R1428C
p.R1451C		18.879.209E-6Stessman2017 T
TSC2     Lee2020:94chr16:
2136274-2136277		CATCCexonicnonframeshift deletionNM_001077183
NM_001114382
NM_000548		c.4543_4545del
c.4675_4677del
c.4744_4746del		p.1515_1515del
p.1559_1559del
p.1582_1582del		--Lee2020 T
TSC2     2-0298-003chr16:
2102213-2102216		CGGTAAAAAAAAintronicDe novo--Trost2022 G
TSC2     MSSNG00041-003chr16:
2130689-2130689		GAintronicDe novo--Trost2022 G
TSC2     REACH000529chr16:
2099433-2099433		TAintronicDe novo--Trost2022 G
TSC2     AU2310301chr16:
2101038-2101038		AGintronicDe novo--Trost2022 G
TSC2     M0322chr16:
2121535-2121535		CTexonicPaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C1864T
c.C1864T
c.C1864T		p.R622W
p.R622W
p.R622W		28.4-Xiong2019 ET
TSC2     M23246chr16:
2106226-2106226		CTexonicPaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C629T
c.C629T
c.C629T		p.A210V
p.A210V
p.A210V		2.1378.294E-6Guo2018 T
Wang2016 T
TSC2     M12507chr16:
2110684-2110684		CTexonicMaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C989T
c.C989T
c.C989T		p.P330L
p.P330L
p.P330L		13.684.955E-5Guo2018 T
TSC2     M18393chr16:
2110765-2110765		CTexonicPaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C1070T
c.C1070T
c.C1070T		p.A357V
p.A357V
p.A357V		14.215.0E-4Guo2018 T
Wang2016 T
TSC2     M04353chr16:
2106226-2106226		CC/TexonicMaternal--Guo2018 T
TSC2     REACH000529chr16:
2125840-2125840		GAexonicDe novosynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G2586A
c.G2586A
c.G2586A		p.A862A
p.A862A
p.A862A		-2.504E-5Trost2022 G
Zhou2022 GE
TSC2     M10105chr16:
2138319-2138319		GAexonicMaternalnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.G5051A
c.G5183A
c.G5252A		p.R1684H
p.R1728H
p.R1751H		23.21.674E-5Guo2018 T
TSC2     M08608chr16:
2138123-2138123		AGexonicMaternalnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.A4942G
c.A5074G
c.A5143G		p.M1648V
p.M1692V
p.M1715V		11.6-Guo2018 T
TSC2     M20553chr16:
2134269-2134269		CTexonicPaternalnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.C3845T
c.C3977T
c.C4046T		p.A1282V
p.A1326V
p.A1349V		2.4234.041E-5Guo2018 T
Wang2016 T
TSC2     M13398chr16:
2103392-2103392		ATexonicMaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.A275T
c.A275T
c.A275T		p.E92V
p.E92V
p.E92V		19.370.0019Guo2018 T
TSC2     M8458chr16:
2138229-2138229		TCexonicPaternalnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.T4961C
c.T5093C
c.T5162C		p.M1654T
p.M1698T
p.M1721T		15.66-Wang2016 T
TSC2     M23182chr16:
2129166-2129166		GAexonicMaternalnonsynonymous SNVNM_001077183
NM_000548
NM_001114382		c.G2968A
c.G3100A
c.G3100A		p.V990I
p.V1034I
p.V1034I		34.04.991E-5Guo2018 T
Wang2016 T
TSC2     M18377chr16:
2134428-2134428		GCexonicMaternalnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.G4004C
c.G4136C
c.G4205C		p.G1335A
p.G1379A
p.G1402A		9.075-Guo2018 T
Wang2016 T
TSC2     2-1738-003chr16:
2134693-2134693		GCexonicDe novononsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.G4269C
c.G4401C
c.G4470C		p.E1423D
p.E1467D
p.E1490D		17.8-Yuen2017 G
Zhou2022 GE
TSC2     Lim2017:6301chr16:
2136269-2136269		CTexonicDe novononsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.C4537T
c.C4669T
c.C4738T		p.R1513W
p.R1557W
p.R1580W		15.981.672E-5Lim2017 E
TSC2     SSC09669chr16:
2115563-2115563		GTexonicDe novononsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G1643T
c.G1643T
c.G1643T		p.R548M
p.R548M
p.R548M		19.51-Fu2022 E
Lim2017 E
TSC2     iHART2635chr16:
2125890-2125890		CTexonicDe novononsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C2636T
c.C2636T
c.C2636T		p.S879F
p.S879F
p.S879F		10.39-Ruzzo2019 G
TSC2     M18921chr16:
2138544-2138544		CGexonicPaternalnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.C5156G
c.C5288G
c.C5357G		p.P1719R
p.P1763R
p.P1786R		11.455.873E-5Guo2018 T
Wang2016 T
TSC2     EGAN00001101319chr16:
2138293-2138311		CCGGCTCCGCCACATCAAGCexonicDe novononframeshift deletionNM_001077183
NM_001114382
NM_000548		c.5026_5043del
c.5158_5175del
c.5227_5244del		p.1676_1681del
p.1720_1725del
p.1743_1748del		--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TSC2     M12504chr16:
2121610-2121610		GAexonicPaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G1939A
c.G1939A
c.G1939A		p.D647N
p.D647N
p.D647N		34.04.0E-4Guo2018 T
Wang2016 T
TSC2     M32044chr16:
2130243-2130243		CTexonicPaternalnonsynonymous SNVNM_001077183
NM_000548
NM_001114382		c.C3343T
c.C3475T
c.C3475T		p.R1115W
p.R1159W
p.R1159W		15.464.0E-4Guo2018 T
TSC2     HN0023.p1chr16:
2100429-2100429		AGexonicPaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.A167G
c.A167G
c.A167G		p.N56S
p.N56S
p.N56S		10.597.462E-5Guo2018 T
TSC2     1-0673-003chr16:
2131391-2131391		CTintronicDe novo--Trost2022 G
Yuen2017 G
TSC2     GX0086.p1chr16:
2134245-2134245		GAexonicPaternalnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.G3821A
c.G3953A
c.G4022A		p.S1274N
p.S1318N
p.S1341N		21.6-Guo2018 T
TSC2     03C16432chr16:
2107113-2107113		GAexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G782A
c.G782A
c.G782A		p.R261Q
p.R261Q
p.R261Q		33.0-Stessman2017 T
TSC2     80001102217chr16:
2121524-2121524		TCexonicDe novononsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.T1853C
c.T1853C
c.T1853C		p.L618P
p.L618P
p.L618P		27.0-Fu2022 E
TSC2     331-07-108652chr16:
2138295-2138295		GAexonicDe novononsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.G5027A
c.G5159A
c.G5228A		p.R1676Q
p.R1720Q
p.R1743Q		34.0-Fu2022 E
TSC2     6301chr16:
2136269-2136269		CTexonicDe novononsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.C4537T
c.C4669T
c.C4738T		p.R1513W
p.R1557W
p.R1580W		15.981.672E-5Fu2022 E
Trost2022 G
TSC2     Schaaf2011:71chr16:
2098633-2098633		GAexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G17A
c.G17A
c.G17A		p.S6N
p.S6N
p.S6N		21.33.319E-5Schaaf2011 T
TSC2     07C63795chr16:
2125890-2125890		CTexonicDe novononsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C2636T
c.C2636T
c.C2636T		p.S879F
p.S879F
p.S879F		10.39-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TSC2     Schaaf2011:74chr16:
2103392-2103392		ATexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.A275T
c.A275T
c.A275T		p.E92V
p.E92V
p.E92V		19.370.0019Schaaf2011 T
TSC2     SP0022611chr16:
2134995-2134995		GAexonicDe novononsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.G4336A
c.G4468A
c.G4537A		p.E1446K
p.E1490K
p.E1513K		21.18.324E-6Fu2022 E
Zhou2022 GE
TSC2     Schaaf2011:75chr16:
2103406-2103406		GAexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G289A
c.G289A
c.G289A		p.A97T
p.A97T
p.A97T		28.7-Schaaf2011 T
TSC2     SP0046890chr16:
2114272-2114272		GAsplicingDe novosplicing17.83-Fu2022 E
Trost2022 G
Zhou2022 GE
TSC2     Schaaf2011:72chr16:
2100410-2100410		AGexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.A148G
c.A148G
c.A148G		p.M50V
p.M50V
p.M50V		-4.979E-5Schaaf2011 T
TSC2     SP0036128chr16:
2134744-2134744		CTintronicDe novo--Fu2022 E
Trost2022 G
TSC2     Schaaf2011:73chr16:
2100452-2100452		AGexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.A190G
c.A190G
c.A190G		p.I64V
p.I64V
p.I64V		11.48-Schaaf2011 T
TSC2     Schaaf2011:78chr16:
2115529-2115529		CTexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C1609T
c.C1609T
c.C1609T		p.R537C
p.R537C
p.R537C		17.212.0E-4Schaaf2011 T
TSC2     GEA448chr16:
2125861-2125861		CTexonicDe novosynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C2607T
c.C2607T
c.C2607T		p.F869F
p.F869F
p.F869F		-2.5E-5Fu2022 E
TSC2     Schaaf2011:79chr16:
2120556-2120556		AGexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.A1816G
c.A1816G
c.A1816G		p.I606V
p.I606V
p.I606V		8.9523.336E-5Schaaf2011 T
TSC2     ASC_18D953chr16:
2138493-2138493		ACexonicDe novononsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.A5105C
c.A5237C
c.A5306C		p.H1702P
p.H1746P
p.H1769P		11.74-Fu2022 E
TSC2     Schaaf2011:76chr16:
2112989-2112989		GAexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G1378A
c.G1378A
c.G1378A		p.A460T
p.A460T
p.A460T		15.920.0024Schaaf2011 T
TSC2     Schaaf2011:77chr16:
2114426-2114426		ACexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.A1597C
c.A1597C
c.A1597C		p.K533Q
p.K533Q
p.K533Q		20.2-Schaaf2011 T
TSC2     Schaaf2011:82chr16:
2126141-2126141		CGexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C2712G
c.C2712G
c.C2712G		p.F904L
p.F904L
p.F904L		15.146.65E-5Schaaf2011 T
TSC2     M17425chr16:
2120496-2120496		GAexonicMaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G1756A
c.G1756A
c.G1756A		p.V586M
p.V586M
p.V586M		17.482.493E-5Guo2018 T
Wang2016 T
TSC2     Schaaf2011:83chr16:
2127711-2127711		GCexonicUnknownnonsynonymous SNVNM_000548
NM_001114382		c.G2950C
c.G2950C		p.E984Q
p.E984Q		26.4-Schaaf2011 T
TSC2     M08470chr16:
2124222-2124222		GAexonicDe novononsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G2377A
c.G2377A
c.G2377A		p.E793K
p.E793K
p.E793K		32.0-Guo2018 T
Stessman2017 T
Wang2016 T
TSC2     M8608chr16:
2138123-2138123		AGexonicMaternalnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.A4942G
c.A5074G
c.A5143G		p.M1648V
p.M1692V
p.M1715V		11.6-Wang2016 T
TSC2     Schaaf2011:80chr16:
2121576-2121576		TGexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.T1905G
c.T1905G
c.T1905G		p.D635E
p.D635E
p.D635E		23.3-Schaaf2011 T
TSC2     Schaaf2011:81chr16:
2121870-2121870		GAexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G2032A
c.G2032A
c.G2032A		p.A678T
p.A678T
p.A678T		1.5260.0019Schaaf2011 T
TSC2     M20769chr16:
2100429-2100429		AGexonicMaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.A167G
c.A167G
c.A167G		p.N56S
p.N56S
p.N56S		10.597.462E-5Guo2018 T
Wang2016 T
TSC2     Schaaf2011:86chr16:
2134317-2134317		CTexonicUnknownnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.C3893T
c.C4025T
c.C4094T		p.S1298L
p.S1342L
p.S1365L		12.41.0E-4Schaaf2011 T
TSC2     Schaaf2011:87chr16:
2134329-2134329		GAexonicUnknownnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.G3905A
c.G4037A
c.G4106A		p.R1302Q
p.R1346Q
p.R1369Q		10.438.635E-6Schaaf2011 T
TSC2     mAGRE2635chr16:
2125890-2125890		CTexonicDe novononsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C2636T
c.C2636T
c.C2636T		p.S879F
p.S879F
p.S879F		10.39-Cirnigliaro2023 G
TSC2     Schaaf2011:84chr16:
2129566-2129566		CTexonicUnknownnonsynonymous SNVNM_001077183
NM_000548
NM_001114382		c.C3161T
c.C3293T
c.C3293T		p.P1054L
p.P1098L
p.P1098L		11.41.067E-5Schaaf2011 T
TSC2     Schaaf2011:85chr16:
2130190-2130190		CTexonicUnknownnonsynonymous SNVNM_001077183
NM_000548
NM_001114382		c.C3290T
c.C3422T
c.C3422T		p.A1097V
p.A1141V
p.A1141V		11.410.0018Schaaf2011 T
TSC2     1-0923-003chr16:
2118998-2118998		GCintronicDe novo--Trost2022 G
Yuen2017 G
TSC2     Schaaf2011:88chr16:
2134496-2134496		GAexonicUnknownnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.G4072A
c.G4204A
c.G4273A		p.G1358R
p.G1402R
p.G1425R		12.972.014E-5Schaaf2011 T
TSC2     Schaaf2011:89chr16:
2138074-2138074		CAexonicUnknownnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.C4893A
c.C5025A
c.C5094A		p.S1631R
p.S1675R
p.S1698R		9.4494.0E-4Schaaf2011 T
TSC2     05C46540chr16:
2125875-2125875		CTexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C2621T
c.C2621T
c.C2621T		p.P874L
p.P874L
p.P874L		31.0-Stessman2017 T
TSC2     05C48455chr16:
2138510-2138510		ATexonicDe novostopgainNM_001077183
NM_001114382
NM_000548		c.A5122T
c.A5254T
c.A5323T		p.K1708X
p.K1752X
p.K1775X		42.0-Stessman2017 T
Stessman2017 T
TSC2     Schaaf2011:101chr16:
2132466-2132475		AGCTGCCAAGAexonicDe novononframeshift deletionNM_000548c.3845_3853delp.1282_1285del--Schaaf2011 T
TSC2     359557chr16:
2124201-2124201		CAexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C2356A
c.C2356A
c.C2356A		p.R786S
p.R786S
p.R786S		18.22-Stessman2017 T
TSC2     HN0092.p1chr16:
2115529-2115529		CTexonicMaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C1609T
c.C1609T
c.C1609T		p.R537C
p.R537C
p.R537C		17.212.0E-4Guo2018 T
TSC2     GX0310.p1chr16:
2106732-2106732		AGexonicMaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.A736G
c.A736G
c.A736G		p.T246A
p.T246A
p.T246A		19.88.25E-6Guo2018 T
TSC2     HN0047.p1chr16:
2131656-2131656		ATexonicMaternalnonsynonymous SNVNM_001077183
NM_000548
NM_001114382		c.A3539T
c.A3671T
c.A3671T		p.N1180I
p.N1224I
p.N1224I		21.5-Guo2018 T
TSC2     GX0013.p1chr16:
2129068-2129068		GAexonicMaternalnonsynonymous SNVNM_001077183
NM_000548
NM_001114382		c.G2870A
c.G3002A
c.G3002A		p.G957E
p.G1001E
p.G1001E		29.61.665E-5Guo2018 T
TSC2     M26886chr16:
2103365-2103365		AGexonicPaternal, Unknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.A248G
c.A248G
c.A248G		p.K83R
p.K83R
p.K83R		11.77-Guo2018 T
Wang2016 T
TSC2     GX0255.p1chr16:
2136789-2136789		GAexonicMaternalnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.G4705A
c.G4837A
c.G4906A		p.D1569N
p.D1613N
p.D1636N		14.442.741E-5Guo2018 T
Source Variant Information

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Paper Information
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Authors
Technology
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Design
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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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