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Results for "PASK"

Variant Events: 78

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
PASK     ACGC_GX0363.p1chr2:
242046867-242046867		GAexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_015148
NM_001252120		c.C3736T
c.C3610T
c.C3715T
c.C3715T		p.R1246C
p.R1204C
p.R1239C
p.R1239C		22.53.295E-5Wang2020 T
PASK     SAGE_BK804-01chr2:
242046867-242046867		GAexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_015148
NM_001252120		c.C3736T
c.C3610T
c.C3715T
c.C3715T		p.R1246C
p.R1204C
p.R1239C
p.R1239C		22.53.295E-5Wang2020 T
PASK     220-9870-202chr2:
242066389-242066390		CCCexonicMaternalframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.1940delG
c.1835delG
c.1940delG
c.1940delG
c.1940delG		p.W647fs
p.W612fs
p.W647fs
p.W647fs
p.W647fs		--Stessman2017 T
PASK     ACGC_M26879chr2:
242066299-242066300		GAGexonicMaternalframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.2030delT
c.1925delT
c.2030delT
c.2030delT
c.2030delT		p.V677fs
p.V642fs
p.V677fs
p.V677fs
p.V677fs		--Wang2020 T
PASK     AGRE_AU019303chr2:
242051709-242051709		TTAexonicUnknownframeshift insertionNM_001252119
NM_001252122
NM_015148
NM_001252120		c.3499dupT
c.3373dupT
c.3478dupT
c.3478dupT		p.Y1167fs
p.Y1125fs
p.Y1160fs
p.Y1160fs		--Wang2020 T
PASK     Gecz3_36854chr2:
242066299-242066300		GAGexonicUnknownframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.2030delT
c.1925delT
c.2030delT
c.2030delT
c.2030delT		p.V677fs
p.V642fs
p.V677fs
p.V677fs
p.V677fs		--Wang2020 T
PASK     ACGC_HEN0076.p1chr2:
242066299-242066300		GAGexonicPaternalframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.2030delT
c.1925delT
c.2030delT
c.2030delT
c.2030delT		p.V677fs
p.V642fs
p.V677fs
p.V677fs
p.V677fs		--Wang2020 T
PASK     G01-GEA-182-HIchr2:
242077398-242077398		CGsplicing;exonicDe novononsynonymous SNVNM_001252119
NM_001252124
NM_015148
NM_001252120		c.G846C
c.G846C
c.G846C
c.G846C		p.Q282H
p.Q282H
p.Q282H
p.Q282H		16.49-Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PASK     AU019303chr2:
242051710-242051711		AAAAAexonicInheritedframeshift insertionNM_001252119
NM_001252122
NM_015148
NM_001252120		c.3497dupT
c.3371dupT
c.3476dupT
c.3476dupT		p.F1166fs
p.F1124fs
p.F1159fs
p.F1159fs		--Stessman2017 T
PASK     Li2017:19628chr2:
242072401-242072401		GAexonicUnknownstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.C1351T
c.C1246T
c.C1351T
c.C1351T
c.C1351T		p.R451X
p.R416X
p.R451X
p.R451X
p.R451X		42.03.0E-4Li2017 T
PASK     mAGRE5491chr2:
242077452-242077452		CCAexonicPaternalframeshift insertionNM_001252119
NM_001252124
NM_015148
NM_001252120		c.791dupT
c.791dupT
c.791dupT
c.791dupT		p.V264fs
p.V264fs
p.V264fs
p.V264fs		-1.0E-4Cirnigliaro2023 G
PASK     mAGRE5489chr2:
242077452-242077452		CCAexonicPaternalframeshift insertionNM_001252119
NM_001252124
NM_015148
NM_001252120		c.791dupT
c.791dupT
c.791dupT
c.791dupT		p.V264fs
p.V264fs
p.V264fs
p.V264fs		-1.0E-4Cirnigliaro2023 G
PASK     mAGRE2888chr2:
242065968-242065970		CCTCexonicMaternalframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.2360_2361del
c.2255_2256del
c.2360_2361del
c.2360_2361del
c.2360_2361del		p.Q787fs
p.Q752fs
p.Q787fs
p.Q787fs
p.Q787fs		--Cirnigliaro2023 G
PASK     13073.p1chr2:
242046718-242046718		GAintronicDe novo-1.647E-5Satterstrom2020 E
PASK     AU2495301chr2:
242065899-242065899		GAexonicMaternalstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.C2431T
c.C2326T
c.C2431T
c.C2431T
c.C2431T		p.R811X
p.R776X
p.R811X
p.R811X
p.R811X		44.01.648E-5Cirnigliaro2023 G
PASK     mAGRE4093chr2:
242051709-242051709		TTAexonicMaternalframeshift insertionNM_001252119
NM_001252122
NM_015148
NM_001252120		c.3499dupT
c.3373dupT
c.3478dupT
c.3478dupT		p.Y1167fs
p.Y1125fs
p.Y1160fs
p.Y1160fs		--Cirnigliaro2023 G
PASK     ACGC_GX0076.p1chr2:
242065860-242065870		CTGTTGGATCACexonicPaternalframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.2460_2469del
c.2355_2364del
c.2460_2469del
c.2460_2469del
c.2460_2469del		p.H820fs
p.H785fs
p.H820fs
p.H820fs
p.H820fs		--Wang2020 T
PASK     2-1075-003chr2:
242054964-242054964		CAintronicDe novo--Trost2022 G
PASK     GX0306.p1chr2:
242047581-242047581		CAsplicingMaternalsplicing12.55-Guo2018 T
PASK     2-1075-003chr2:
242054975-242054975		CTintronicDe novo--Trost2022 G
PASK     ACGC_GX0507.p1chr2:
242063452-242063452		GCexonicPaternalstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.C2816G
c.C2711G
c.C2816G
c.C2816G
c.C2816G		p.S939X
p.S904X
p.S939X
p.S939X
p.S939X		46.01.667E-5Wang2020 T
PASK     SSC06347chr2:
242046718-242046718		GAintronicDe novo-1.647E-5Trost2022 G
PASK     ACGC_M17585chr2:
242072348-242072348		CCTexonicPaternalframeshift insertionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.1403dupA
c.1298dupA
c.1403dupA
c.1403dupA
c.1403dupA		p.Q468fs
p.Q433fs
p.Q468fs
p.Q468fs
p.Q468fs		--Wang2020 T
PASK     2-1075-003chr2:
242054936-242054936		GAintronicDe novo--Trost2022 G
PASK     ACGC_SD0137.p1chr2:
242065839-242065843		CCAAACexonicUnknownframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.2487_2490del
c.2382_2385del
c.2487_2490del
c.2487_2490del
c.2487_2490del		p.C829fs
p.C794fs
p.C829fs
p.C829fs
p.C829fs		--Wang2020 T
PASK     AU054103chr2:
242051688-242051692		TCGATCexonicPaternalframeshift substitutionNM_001252119
NM_001252122
NM_015148
NM_001252120		c.3517_3521G
c.3391_3395G
c.3496_3500G
c.3496_3500G		N/A
N/A
N/A
N/A		--Stessman2017 T
PASK     M17585 Complex Event; expand row to view variants  Paternalframeshift insertion, synonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
NM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.1403dupA
c.1298dupA
c.1403dupA
c.1403dupA
c.1403dupA
c.G1404A
c.G1299A
c.G1404A
c.G1404A
c.G1404A		p.Q468fs
p.Q433fs
p.Q468fs
p.Q468fs
p.Q468fs
p.Q468Q
p.Q433Q
p.Q468Q
p.Q468Q
p.Q468Q		--Guo2018 T
Wang2016 T
PASK     AGRE_AU054103chr2:
242051687-242051692		CTCGATCCexonicUnknownframeshift substitutionNM_001252119
NM_001252122
NM_015148
NM_001252120		c.3517_3521G
c.3391_3395G
c.3496_3500G
c.3496_3500G		N/A
N/A
N/A
N/A		--Wang2020 T
PASK     DEASD_0314_001chr2:
242065977-242065977		GAexonicDe novostopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.C2353T
c.C2248T
c.C2353T
c.C2353T
c.C2353T		p.Q785X
p.Q750X
p.Q785X
p.Q785X
p.Q785X		43.0-Lim2017 E
PASK     ACGC_HEN442.p1chr2:
242066538-242066538		TTGexonicUnknownframeshift insertionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.1791dupC
c.1686dupC
c.1791dupC
c.1791dupC
c.1791dupC		p.K598fs
p.K563fs
p.K598fs
p.K598fs
p.K598fs		--Wang2020 T
PASK     ACGC_JS0041.p1chr2:
242066538-242066538		TTGexonicUnknownframeshift insertionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.1791dupC
c.1686dupC
c.1791dupC
c.1791dupC
c.1791dupC		p.K598fs
p.K563fs
p.K598fs
p.K598fs
p.K598fs		--Wang2020 T
PASK     ACGC_M18485chr2:
242066136-242066136		GAexonicPaternalstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.C2194T
c.C2089T
c.C2194T
c.C2194T
c.C2194T		p.Q732X
p.Q697X
p.Q732X
p.Q732X
p.Q732X		43.08.282E-6Wang2020 T
PASK     M26879 Complex Event; expand row to view variants  Maternalframeshift deletion, frameshift substitutionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
NM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.2030delT
c.1925delT
c.2030delT
c.2030delT
c.2030delT
c.2030_2031A
c.1925_1926A
c.2030_2031A
c.2030_2031A
c.2030_2031A		p.V677fs
p.V642fs
p.V677fs
p.V677fs
p.V677fs
N/A
N/A
N/A
N/A
N/A		--Guo2018 T
Wang2016 T
PASK     TASC_217-14389-4980chr2:
242080086-242080087		AGAexonicUnknownframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.278delC
c.278delC
c.278delC
c.278delC
c.278delC		p.P93fs
p.P93fs
p.P93fs
p.P93fs
p.P93fs		--Wang2020 T
PASK     TASC_217-14268-3910chr2:
242080086-242080087		AGAexonicUnknownframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.278delC
c.278delC
c.278delC
c.278delC
c.278delC		p.P93fs
p.P93fs
p.P93fs
p.P93fs
p.P93fs		--Wang2020 T
PASK     GX0507.p1chr2:
242063452-242063452		GCexonicPaternalstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.C2816G
c.C2711G
c.C2816G
c.C2816G
c.C2816G		p.S939X
p.S904X
p.S939X
p.S939X
p.S939X		46.01.667E-5Guo2018 T
PASK     ACGC_M17532chr2:
242051689-242051689		CTexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_015148
NM_001252120		c.G3520A
c.G3394A
c.G3499A
c.G3499A		p.E1174K
p.E1132K
p.E1167K
p.E1167K		25.98.247E-6Wang2020 T
PASK     GX0076.p1chr2:
242065860-242065870		CTGTTGGATCACexonicPaternalframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.2460_2469del
c.2355_2364del
c.2460_2469del
c.2460_2469del
c.2460_2469del		p.H820fs
p.H785fs
p.H820fs
p.H820fs
p.H820fs		--Guo2018 T
PASK     ACGC_M27801chr2:
242078107-242078107		CTexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.G703A
c.G703A
c.G703A
c.G703A
c.G703A		p.V235M
p.V235M
p.V235M
p.V235M
p.V235M		23.31.648E-5Wang2020 T
PASK     Iowa_226_2_a.2.1chr2:
242082329-242082329		GTexonicUnknownstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.C119A
c.C119A
c.C119A
c.C119A
c.C119A		p.S40X
p.S40X
p.S40X
p.S40X
p.S40X		41.0-Wang2020 T
PASK     Naples_6257chr2:
242077366-242077366		AACsplicingUnknownsplicing-5.767E-5Wang2020 T
PASK     TASC_211-5274-3chr2:
242051855-242051855		CTsplicingUnknownsplicing14.42-Wang2020 T
PASK     Naples_5912chr2:
242054462-242054462		CTexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.G3329A
c.G3224A
c.G3329A
c.G3329A
c.G3329A		p.R1110Q
p.R1075Q
p.R1110Q
p.R1110Q
p.R1110Q		36.03.299E-5Wang2020 T
PASK     TASC_217-14289-4100chr2:
242078125-242078125		CTexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.G685A
c.G685A
c.G685A
c.G685A
c.G685A		p.V229M
p.V229M
p.V229M
p.V229M
p.V229M		23.7-Wang2020 T
PASK     ACGC_SX0059.p1chr2:
242066538-242066538		TTGexonicUnknownframeshift insertionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.1791dupC
c.1686dupC
c.1791dupC
c.1791dupC
c.1791dupC		p.K598fs
p.K563fs
p.K598fs
p.K598fs
p.K598fs		--Wang2020 T
PASK     ACGC_M12492chr2:
242078107-242078107		CTexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.G703A
c.G703A
c.G703A
c.G703A
c.G703A		p.V235M
p.V235M
p.V235M
p.V235M
p.V235M		23.31.648E-5Wang2020 T
PASK     SAGE_BK_722_01chr2:
242062182-242062182		CAexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.G3037T
c.G2932T
c.G3037T
c.G3037T
c.G3037T		p.V1013L
p.V978L
p.V1013L
p.V1013L
p.V1013L		27.3-Wang2020 T
PASK     SanDiego_00100-C4D5Jchr2:
242047704-242047704		GAexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_015148
NM_001252120		c.C3566T
c.C3440T
c.C3545T
c.C3545T		p.P1189L
p.P1147L
p.P1182L
p.P1182L		25.28.249E-5Wang2020 T
PASK     SAGE_428.03chr2:
242077444-242077445		TCTexonicUnknownframeshift deletionNM_001252119
NM_001252124
NM_015148
NM_001252120		c.799delG
c.799delG
c.799delG
c.799delG		p.E267fs
p.E267fs
p.E267fs
p.E267fs		-8.248E-6Wang2020 T
PASK     SP0042653chr2:
242065544-242065544		GAintronicDe novo--Fu2022 E
Trost2022 G
PASK     A25chr2:
242054738-242054738		TCexonicDe novononsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.A3163G
c.A3058G
c.A3163G
c.A3163G
c.A3163G		p.I1055V
p.I1020V
p.I1055V
p.I1055V
p.I1055V		18.391.649E-5Wu2018 G
PASK     ACGC_SD0079.p1chr2:
242063549-242063549		CAsplicingMaternalsplicing9.391.77E-5Wang2020 T
PASK     Leuven2_60307063chr2:
242046915-242046915		CTsplicingUnknownsplicing18.61-Wang2020 T
PASK     TASC_220-9870-202chr2:
242066388-242066389		GCGexonicMaternalframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.1941delG
c.1836delG
c.1941delG
c.1941delG
c.1941delG		p.W647fs
p.W612fs
p.W647fs
p.W647fs
p.W647fs		--Wang2020 T
PASK     Leuven_82662495chr2:
242046866-242046866		CTexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_015148
NM_001252120		c.G3737A
c.G3611A
c.G3716A
c.G3716A		p.R1246H
p.R1204H
p.R1239H
p.R1239H		32.0-Wang2020 T
PASK     iHART2888chr2:
242065968-242065970		CCTCexonicMaternalframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.2360_2361del
c.2255_2256del
c.2360_2361del
c.2360_2361del
c.2360_2361del		p.Q787fs
p.Q752fs
p.Q787fs
p.Q787fs
p.Q787fs		--Ruzzo2019 G
PASK     ACGC_GD0025.p1chr2:
242078087-242078087		CTexonicUnknownstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.G723A
c.G723A
c.G723A
c.G723A
c.G723A		p.W241X
p.W241X
p.W241X
p.W241X
p.W241X		39.02.472E-5Wang2020 T
PASK     M18485chr2:
242066136-242066136		GAexonicPaternalstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.C2194T
c.C2089T
c.C2194T
c.C2194T
c.C2194T		p.Q732X
p.Q697X
p.Q732X
p.Q732X
p.Q732X		43.08.282E-6Guo2018 T
Wang2016 T
PASK     TASC_217-14366-980chr2:
242062268-242062269		TCTexonicUnknownframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.2950delG
c.2845delG
c.2950delG
c.2950delG
c.2950delG		p.E984fs
p.E949fs
p.E984fs
p.E984fs
p.E984fs		--Wang2020 T
PASK     M19628chr2:
242072401-242072401		GAexonicPaternalstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.C1351T
c.C1246T
c.C1351T
c.C1351T
c.C1351T		p.R451X
p.R416X
p.R451X
p.R451X
p.R451X		42.03.0E-4Guo2018 T
Wang2016 T
PASK     SanDiego_00129-D2Q2Wchr2:
242082440-242082441		TCTexonicUnknownframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.7delG
c.7delG
c.7delG
c.7delG
c.7delG		p.D3fs
p.D3fs
p.D3fs
p.D3fs
p.D3fs		-8.3E-6Wang2020 T
PASK     Leuven2_63655229chr2:
242065722-242065722		GAexonicUnknownstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.C2608T
c.C2503T
c.C2608T
c.C2608T
c.C2608T		p.Q870X
p.Q835X
p.Q870X
p.Q870X
p.Q870X		44.0-Wang2020 T
PASK     ACGC_GX0306.p1chr2:
242047581-242047581		CAsplicingMaternalsplicing12.55-Wang2020 T
PASK     SanDiego_00194-E6P3Pchr2:
242051776-242051776		CAexonicUnknownstopgainNM_001252119
NM_001252122
NM_015148
NM_001252120		c.G3433T
c.G3307T
c.G3412T
c.G3412T		p.E1145X
p.E1103X
p.E1138X
p.E1138X		46.04.944E-5Wang2020 T
PASK     SAGE_469.03chr2:
242066370-242066370		GAexonicUnknownstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.C1960T
c.C1855T
c.C1960T
c.C1960T
c.C1960T		p.R654X
p.R619X
p.R654X
p.R654X
p.R654X		43.03.301E-5Wang2020 T
PASK     217-14289-4100chr2:
242078125-242078125		CTexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.G685A
c.G685A
c.G685A
c.G685A
c.G685A		p.V229M
p.V229M
p.V229M
p.V229M
p.V229M		23.7-Stessman2017 T
PASK     ACGC_JS0037.p1chr2:
242066215-242066215		GTexonicUnknownstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.C2115A
c.C2010A
c.C2115A
c.C2115A
c.C2115A		p.C705X
p.C670X
p.C705X
p.C705X
p.C705X		41.0-Wang2020 T
PASK     Gecz3_37628chr2:
242072401-242072401		GAexonicUnknownstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.C1351T
c.C1246T
c.C1351T
c.C1351T
c.C1351T		p.R451X
p.R416X
p.R451X
p.R451X
p.R451X		42.03.0E-4Wang2020 T
PASK     ACGC_M19628chr2:
242072401-242072401		GAexonicPaternalstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.C1351T
c.C1246T
c.C1351T
c.C1351T
c.C1351T		p.R451X
p.R416X
p.R451X
p.R451X
p.R451X		42.03.0E-4Wang2020 T
PASK     EGAN00001101026chr2:
242079053-242079053		ACintronicDe novo-8.0E-4Satterstrom2020 E
Trost2022 G
PASK     G01_GEA528HIchr2:
242046962-242046962		GAintronicDe novo--Fu2022 E
PASK     A26chr2:
242046908-242046908		AGexonicDe novononsynonymous SNVNM_001252119
NM_001252122
NM_015148
NM_001252120		c.T3695C
c.T3569C
c.T3674C
c.T3674C		p.M1232T
p.M1190T
p.M1225T
p.M1225T		11.551.0E-4Wu2018 G
PASK     SD0079.p1chr2:
242063549-242063549		CAsplicingMaternalsplicing9.391.77E-5Guo2018 T
PASK     217-14366-980chr2:
242062269-242062270		CCCexonicInheritedframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.2949delG
c.2844delG
c.2949delG
c.2949delG
c.2949delG		p.V983fs
p.V948fs
p.V983fs
p.V983fs
p.V983fs		--Stessman2017 T
PASK     HEN0076.p1chr2:
242066299-242066300		GAGexonicPaternalframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.2030delT
c.1925delT
c.2030delT
c.2030delT
c.2030delT		p.V677fs
p.V642fs
p.V677fs
p.V677fs
p.V677fs		--Guo2018 T
PASK     JS0037.p1chr2:
242066215-242066215		GTexonicUnknownstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.C2115A
c.C2010A
c.C2115A
c.C2115A
c.C2115A		p.C705X
p.C670X
p.C705X
p.C705X
p.C705X		41.0-Guo2018 T
PASK     JS0041.p1chr2:
242066538-242066538		TTGexonicUnknownframeshift insertionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.1791dupC
c.1686dupC
c.1791dupC
c.1791dupC
c.1791dupC		p.K598fs
p.K563fs
p.K598fs
p.K598fs
p.K598fs		--Guo2018 T
PASK     Li2017:18485chr2:
242066136-242066136		GAexonicUnknownstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.C2194T
c.C2089T
c.C2194T
c.C2194T
c.C2194T		p.Q732X
p.Q697X
p.Q732X
p.Q732X
p.Q732X		43.08.282E-6Li2017 T
Source Variant Information

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Paper Information
Title
Authors
Technology
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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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