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Results for "Callaghan2019"

Variant Events: 131

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
ACTN1     48-14470chr14:
69343938-69343938		CTexonicInheritednonsynonymous SNVNM_001102
NM_001130005
NM_001130004		c.G2381A
c.G2366A
c.G2447A		p.R794H
p.R789H
p.R816H		32.0-Callaghan2019 G
ANKRD17     16260-27149chr4:
74007509-74007509		GAexonicInheritednonsynonymous SNVNM_001286771
NM_032217
NM_198889		c.C1942T
c.C2281T
c.C2281T		p.P648S
p.P761S
p.P761S		35.0-Callaghan2019 G
AGO1     21773-34925chr1:
36384789-36384789		CTexonicInheritednonsynonymous SNVNM_001317123
NM_012199		c.C2174T
c.C2399T		p.P725L
p.P800L		21.5-Callaghan2019 G
CHD8     21705-34281chr14:
21875188-21875188		GAexonicInheritednonsynonymous SNVNM_001170629
NM_020920		c.C2734T
c.C1897T		p.R912C
p.R633C		31.0-Callaghan2019 G
CDC42BPB     779-18300chr14:
103470357-103470357		CTexonicInheritednonsynonymous SNVNM_006035c.G355Ap.A119T27.7-Callaghan2019 G
CUX1     1883-23662chr7:
101559446-101559446		GAexonicnonsynonymous SNVNM_001202543
NM_001202544
NM_001202545
NM_001913
NM_181500
NM_181552		c.G115A
c.G115A
c.G115A
c.G115A
c.G115A
c.G82A		p.E39K
p.E39K
p.E39K
p.E39K
p.E39K
p.E28K		24.6-Callaghan2019 G
CUL3     19275-30820chr2:
225422467-225422467		TCexonicnonsynonymous SNVNM_001257198
NM_003590		c.A191G
c.A173G		p.Y64C
p.Y58C		20.2-Callaghan2019 G
BRPF1     16260-27149chr3:
9786121-9786121		GTexonicInheritednonsynonymous SNVNM_001003694
NM_004634		c.G2849T
c.G2831T		p.R950L
p.R944L		21.2-Callaghan2019 G
ARNTL     20618-32410chr11:
13387084-13387084		GAexonicInheritednonsynonymous SNVNM_001030272
NM_001297722
NM_001030273
NM_001178
NM_001297719
NM_001297724		c.G497A
c.G497A
c.G368A
c.G497A
c.G497A
c.G368A		p.R166Q
p.R166Q
p.R123Q
p.R166Q
p.R166Q
p.R123Q		36.0-Callaghan2019 G
CAMTA1     1442-22354chr1:
7796467-7796467		AGexonicInheritednonsynonymous SNVNM_015215c.A3130Gp.K1044E19.0-Callaghan2019 G
BRPF1     19844-31412chr3:
9786121-9786121		GAexonicnonsynonymous SNVNM_001003694
NM_004634		c.G2849A
c.G2831A		p.R950Q
p.R944Q		20.4-Callaghan2019 G
FIP1L1     1588-22326chr4:
54257236-54257236		GAexonicnonsynonymous SNVNM_001134937
NM_001134938
NM_030917		c.G521A
c.G521A
c.G566A		p.C174Y
p.C174Y
p.C189Y		21.3-Callaghan2019 G
FBN1     1876-23644chr15:
48788393-48788393		GAexonicnonsynonymous SNVNM_000138c.C2323Tp.L775F33.0-Callaghan2019 G
GABRA1     1792-23269chr5:
161309585-161309585		TAexonicInheritednonsynonymous SNVNM_001127648
NM_001127644
NM_001127645
NM_000806
NM_001127643		c.T581A
c.T581A
c.T581A
c.T581A
c.T581A		p.V194D
p.V194D
p.V194D
p.V194D
p.V194D		25.9-Callaghan2019 G
FXR1     19275-30820chr3:
180680833-180680833		GAexonicnonsynonymous SNVNM_001013438
NM_005087
NM_001013439		c.G1153A
c.G1153A
c.G898A		p.G385R
p.G385R
p.G300R		18.87-Callaghan2019 G
DLGAP3     1876-23644chr1:
35365715-35365715		GAexonicnonsynonymous SNVNM_001080418c.C1267Tp.R423C18.11-Callaghan2019 G
DGKD     21758-34760chr2:
234377170-234377170		CTexonicnonsynonymous SNVNM_003648
NM_152879		c.C3394T
c.C3526T		p.L1132F
p.L1176F		28.6-Callaghan2019 G
DSCAML1     1792-23269chr11:
117308080-117308080		GCexonicInheritednonsynonymous SNVNM_020693c.C4658Gp.S1553C23.4-Callaghan2019 G
DNMT3A     20572-32334chr2:
25462044-25462044		GAexonicnonsynonymous SNVNM_153759
NM_022552
NM_175629		c.C1796T
c.C2363T
c.C2363T		p.A599V
p.A788V
p.A788V		28.7-Callaghan2019 G
HNRNPR     1569-22238chr1:
23648092-23648092		CTexonicInheritednonsynonymous SNVNM_001297621
NM_001297622
NM_001102397
NM_001102399
NM_001297620
NM_001102398
NM_005826		c.G260A
c.G323A
c.G437A
c.G437A
c.G626A
c.G740A
c.G740A		p.R87K
p.R108K
p.R146K
p.R146K
p.R209K
p.R247K
p.R247K		33.0-Callaghan2019 G
HK1     1855-23570chr10:
71158568-71158568		TCexonicInheritednonsynonymous SNVNM_000188
NM_033496
NM_033497
NM_033498
NM_033500		c.T2593C
c.T2590C
c.T2605C
c.T2605C
c.T2557C		p.Y865H
p.Y864H
p.Y869H
p.Y869H
p.Y853H		21.2-Callaghan2019 G
INSR     21740-34579chr19:
7172377-7172377		GAexonicInheritednonsynonymous SNVNM_000208
NM_001079817		c.C1192T
c.C1192T		p.R398C
p.R398C		19.56-Callaghan2019 G
INPP5D     15542-26229chr2:
234091082-234091082		GTexonicInheritedunknown24.3-Callaghan2019 G
GRIK5     21758-34760chr19:
42546718-42546718		CTexonicnonsynonymous SNVNM_001301030
NM_002088		c.G1459A
c.G1459A		p.E487K
p.E487K		36.0-Callaghan2019 G
GRIK5     928-19074chr19:
42525615-42525615		TCexonicInheritednonsynonymous SNVNM_001301030
NM_002088		c.A1709G
c.A1709G		p.Y570C
p.Y570C		19.7-Callaghan2019 G
HERC2     21969-37814chr15:
28422649-28422649		CTexonicInheritednonsynonymous SNVNM_004667c.G9170Ap.R3057Q37.0-Callaghan2019 G
HECTD4     19890-31485chr12:
112677784-112677784		GTexonicInheritednonsynonymous SNVNM_001109662c.C4604Ap.A1535D33.0-Callaghan2019 G
KIF21B     1792-23269chr1:
200969864-200969864		GAexonicInheritednonsynonymous SNVNM_001252100
NM_001252102
NM_001252103
NM_017596		c.C1447T
c.C1447T
c.C1447T
c.C1447T		p.R483W
p.R483W
p.R483W
p.R483W		23.6-Callaghan2019 G
KIF1A     21870-36159chr2:
241696767-241696767		CTexonicInheritednonsynonymous SNVNM_001244008c.G2827Ap.D943N33.0-Callaghan2019 G
KMT2B     21189-33353chr19:
36218786-36218786		GAexonicInheritednonsynonymous SNVNM_014727c.G4397Ap.S1466N13.64-Callaghan2019 G
KLHL26     21742-34594chr19:
18778860-18778860		TCexonicInheritednonsynonymous SNVNM_018316c.T653Cp.L218P18.19-Callaghan2019 G
IPO7     21236-33440chr11:
9441980-9441980		AGexonicnonsynonymous SNVNM_006391c.A749Gp.D250G25.1-Callaghan2019 G
INSR     1876-23644chr19:
7267787-7267787		CAexonicnonsynonymous SNVNM_000208
NM_001079817		c.G221T
c.G221T		p.R74L
p.R74L		19.11-Callaghan2019 G
KIAA1468     21165-33301chr18:
59899583-59899583		AGexonicInheritednonsynonymous SNVNM_020854c.A1543Gp.S515G24.4-Callaghan2019 G
KALRN     21189-33353chr3:
124281892-124281892		CTexonicInheritednonsynonymous SNVNM_001024660c.C5132Tp.S1711F25.5-Callaghan2019 G
NBEA     21879-36229chr13:
35632895-35632895		TGexonicInheritednonsynonymous SNVNM_015678c.T1134Gp.D378E20.7-Callaghan2019 G
MYO9B     16260-27149chr19:
17318004-17318004		GAexonicInheritednonsynonymous SNVNM_001130065
NM_004145		c.G5575A
c.G5575A		p.D1859N
p.D1859N		21.9-Callaghan2019 G
NPR1     2047-24322chr1:
153659558-153659558		GAexonicInheritednonsynonymous SNVNM_000906c.G1930Ap.V644I21.6-Callaghan2019 G
NIPBL     1543-22102chr5:
37059219-37059219		TCexonicDe novononsynonymous SNVNM_015384
NM_133433		c.T7637C
c.T7637C		p.L2546P
p.L2546P		23.1-Callaghan2019 G
MARCH6     20574-32342chr5:
10415740-10415740		CTexonicInheritednonsynonymous SNVNM_001270661
NM_001270660
NM_005885		c.C1792T
c.C1963T
c.C2107T		p.R598C
p.R655C
p.R703C		33.0-Callaghan2019 G
MAPK8IP3     19993-31610chr16:
1793424-1793424		GAexonicInheritednonsynonymous SNVNM_001040439
NM_015133		c.G691A
c.G691A		p.D231N
p.D231N		25.9-Callaghan2019 G
MYCBP2     19273-30812chr13:
77835476-77835476		ATexonicInheritednonsynonymous SNVNM_015057c.T1682Ap.I561N19.02-Callaghan2019 G
MED13L     635-18522chr12:
116399093-116399093		TCexonicInheritednonsynonymous SNVNM_015335c.A6611Gp.N2204S27.3-Callaghan2019 G
PTPRF     21733-34496chr1:
44069557-44069557		GAexonicInheritednonsynonymous SNVNM_130440
NM_002840		c.G2707A
c.G2734A		p.E903K
p.E912K		27.3-Callaghan2019 G
PPP1CB     19844-31412chr2:
29022126-29022126		CTexonicnonsynonymous SNVNM_002709
NM_206876		c.C941T
c.C941T		p.P314L
p.P314L		20.3-Callaghan2019 G
RBM25     21742-34594chr14:
73570005-73570005		CTexonicInheritednonsynonymous SNVNM_021239c.C973Tp.R325W15.97-Callaghan2019 G
PUM1     15542-26229chr1:
31414077-31414077		CAexonicInheritednonsynonymous SNVNM_001020658
NM_014676		c.G3163T
c.G3157T		p.G1055C
p.G1053C		32.0-Callaghan2019 G
PIP4K2B     613-14848chr17:
36935652-36935652		CTexonicnonsynonymous SNVNM_003559c.G638Ap.R213H28.0-Callaghan2019 G
OLFM2     2007-24164chr19:
9971445-9971445		CTexonicnonsynonymous SNVNM_001304347
NM_058164		c.G161A
c.G89A		p.G54D
p.G30D		28.5-Callaghan2019 G
PITPNM2     1792-23269chr12:
123480051-123480051		CTexonicInheritednonsynonymous SNVNM_001300801
NM_020845		c.G1939A
c.G1939A		p.D647N
p.D647N		34.0-Callaghan2019 G
PITPNM2     21762-34808chr12:
123519119-123519119		GAexonicInheritednonsynonymous SNVNM_001300801
NM_020845		c.C19T
c.C19T		p.R7W
p.R7W		26.8-Callaghan2019 G
SCN8A     1937-23920chr12:
52099273-52099273		GAexonicnonsynonymous SNVNM_001177984
NM_014191		c.G1207A
c.G1207A		p.V403M
p.V403M		22.4-Callaghan2019 G
SCN2A     21730-34469chr2:
166153564-166153564		GAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G305A
c.G305A
c.G305A		p.R102Q
p.R102Q
p.R102Q		36.0-Callaghan2019 G
SMC3     19991-31601chr10:
112352910-112352910		TCexonicInheritednonsynonymous SNVNM_005445c.T1892Cp.L631P22.8-Callaghan2019 G
SLC12A6     21852-36011chr15:
34538036-34538036		AGexonicInheritednonsynonymous SNVNM_001042497
NM_005135
NM_133647
NM_001042494
NM_001042495
NM_001042496		c.T1637C
c.T1529C
c.T1682C
c.T1505C
c.T1505C
c.T1655C		p.V546A
p.V510A
p.V561A
p.V502A
p.V502A
p.V552A		17.96-Callaghan2019 G
RYR1     1548-22146chr19:
38949911-38949911		GAexonicInheritednonsynonymous SNVNM_000540
NM_001042723		c.G2293A
c.G2293A		p.G765S
p.G765S		17.93-Callaghan2019 G
RTF1     2007-24164chr15:
41772874-41772874		GAexonicnonsynonymous SNVNM_015138c.G2122Ap.G708R23.5-Callaghan2019 G
RYR2     1946-23968chr1:
237659974-237659974		GAexonicInheritednonsynonymous SNVNM_001035c.G2125Ap.G709R35.0-Callaghan2019 G
RYR1     21686-34166chr19:
38934225-38934225		CTexonicInheritednonsynonymous SNVNM_000540
NM_001042723		c.C298T
c.C298T		p.L100F
p.L100F		15.59-Callaghan2019 G
ZNF462     21870-36159chr9:
109691591-109691591		GAexonicInheritednonsynonymous SNVNM_021224c.G5398Ap.A1800T17.45-Callaghan2019 G
USP46     2007-24164chr4:
53464810-53464810		TGexonicnonsynonymous SNVNM_001134223
NM_001286767
NM_022832
NM_001286768		c.A962C
c.A947C
c.A983C
c.A635C		p.D321A
p.D316A
p.D328A
p.D212A		22.1-Callaghan2019 G
BCL2L11     1987-24091chr2:
111921708-111921708		ACsplicingInheritedsplicing15.12-Callaghan2019 G
ARID2     1885-23669chr12:
46231491-46231491		GAsplicingDe novosplicing15.3-Callaghan2019 G
TENM2     19890-31485chr5:
167673943-167673943		AGexonicInheritednonsynonymous SNVNM_001080428
NM_001122679		c.A5282G
c.A5972G		p.Y1761C
p.Y1991C		14.19-Callaghan2019 G
SPTBN2     19283-30834chr11:
66454910-66454910		TCexonicnonsynonymous SNVNM_006946c.A6710Gp.K2237R28.8-Callaghan2019 G
UPF2     993-20365chr10:
12009449-12009449		CTexonicInheritednonsynonymous SNVNM_015542
NM_080599		c.G1958A
c.G1958A		p.R653Q
p.R653Q		21.5-Callaghan2019 G
UNC5A     22124-39156chr5:
176295851-176295851		GAexonicInheritednonsynonymous SNVNM_133369c.G607Ap.E203K29.2-Callaghan2019 G
GAK     1886-23674chr4:
860151-860151		CTsplicingInheritedsplicing15.72-Callaghan2019 G
DOPEY1     21762-34808chr6:
83872513-83872513		CTexonicInheritedstopgainNM_001199942
NM_015018		c.C6940T
c.C6967T		p.R2314X
p.R2323X		49.0-Callaghan2019 G
KIF11     18436-29827chr10:
94408018-94408018		CGexonicstopgainNM_004523c.C2597Gp.S866X22.1-Callaghan2019 G
HNRNPUL2     1989-24099chr11:
62484506-62484506		GAexonicstopgainNM_001079559c.C1936Tp.R646X39.0-Callaghan2019 G
CAPN15     20569-32326chr16:
586144-586144		TCsplicingsplicing--Callaghan2019 G
CAPN15     187-13717chr16:
586144-586144		TCsplicingsplicing--Callaghan2019 G
CAPN15     928-19074chr16:
586144-586144		TCsplicingsplicing--Callaghan2019 G
CAPN15     21267-33506chr16:
586144-586144		TCsplicingsplicing--Callaghan2019 G
NEMF     1792-23269chr14:
50296078-50296078		GAexonicInheritedstopgainNM_001301732
NM_004713		c.C1012T
c.C1012T		p.Q338X
p.Q338X		38.0-Callaghan2019 G
MYT1     2047-24322chr20:
62836451-62836451		GTsplicingInheritedsplicing24.6-Callaghan2019 G
POLR2B     1876-23644chr4:
57887162-57887162		GTsplicingsplicing15.21-Callaghan2019 G
PDE1B     21854-36022chr12:
54955390-54955390		CTexonicInheritedstopgainNM_001165975c.C22Tp.Q8X37.00.001Callaghan2019 G
LONP1     1974-24044chr19:
5720229-5720229		CTsplicingInheritedsplicing--Callaghan2019 G
LMNA     21304-33563chr1:
156105105-156105105		TCsplicingsplicing18.77-Callaghan2019 G
MYO9A     928-19074chr15:
72186120-72186120		CTsplicingsplicing14.64.0E-4Callaghan2019 G
MYO9A     1876-23644chr15:
72186120-72186120		CTsplicingsplicing14.64.0E-4Callaghan2019 G
ST18     871-19574chr8:
53071669-53071669		GCexonicInheritedstopgainNM_014682c.C1595Gp.S532X45.0-Callaghan2019 G
SSH1     21183-33343chr12:
109186418-109186418		GAexonicInheritedstopgainNM_001161331
NM_001161330
NM_018984		c.C1570T
c.C1537T
c.C1537T		p.R524X
p.R513X
p.R513X		19.648.466E-6Callaghan2019 G
TNS1     21762-34808chr2:
218713221-218713221		GCexonicInheritedstopgainNM_001308022
NM_001308023
NM_022648		c.C1644G
c.C1644G
c.C1644G		p.Y548X
p.Y548X
p.Y548X		38.0-Callaghan2019 G
TBC1D14     21304-33563chr4:
6925231-6925231		CTexonicstopgainNM_001113361
NM_020773		c.C115T
c.C115T		p.R39X
p.R39X		9.1191.65E-5Callaghan2019 G
PTPRM     21183-33343chr18:
8384558-8384558		GAsplicingInheritedsplicing23.02.0E-4Callaghan2019 G
PRKDC     19283-30834chr8:
48812932-48812932		CAsplicingInheritedsplicing14.06-Callaghan2019 G
SCN2A     21705-34281chr2:
166168534-166168534		GAsplicingDe novosplicing23.6-Callaghan2019 G
RAPGEF4     21758-34760chr2:
173787029-173787029		GAsplicingsplicing18.466.625E-5Callaghan2019 G
AGPAT1     21505-33825chr6:
32137124-32137126		CAGCexonicframeshift deletionNM_006411
NM_032741		c.779_780del
c.779_780del		p.T260fs
p.T260fs		--Callaghan2019 G
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
ASXL3     20705-32533chr18:
31324700-31324704		CAAAACexonicframeshift deletionNM_030632c.4889_4892delp.Q1630fs--Callaghan2019 G
ANKRD50     21854-36022chr4:
125592253-125592254		GCGexonicframeshift deletionNM_001167882
NM_020337		c.1641delG
c.2178delG		p.G547fs
p.G726fs		--Callaghan2019 G
UPF1     21970-37819chr19:
18968255-18968255		CTexonicInheritedstopgainNM_001297549
NM_002911		c.C2128T
c.C2095T		p.Q710X
p.Q699X		43.0-Callaghan2019 G
UBR3     21684-34154chr2:
170885854-170885854		AGsplicingInheritedsplicing19.71-Callaghan2019 G
ZBTB20     1550-22157chr3:
114462627-114462627		CTsplicingInheritedsplicing--Callaghan2019 G
WDR45     21974-35254chrX:
48933022-48933022		CTsplicingDe novosplicing16.7-Callaghan2019 G
GIGYF1     1883-23662chr7:
100280017-100280018		TGTexonicframeshift deletionNM_022574c.2688delCp.P896fs--Callaghan2019 G
CUL9     21165-33301chr6:
43188203-43188204		TGTexonicstopgainNM_015089c.6290delGp.W2097X--Callaghan2019 G
GPATCH8     993-20365chr17:
42475172-42475176		TTGAGTexonicframeshift deletionNM_001304943
NM_001304939
NM_001304942
NM_001002909
NM_001304941
NM_001304940		c.4035_4038del
c.4194_4197del
c.4035_4038del
c.4269_4272del
c.4035_4038del
c.4035_4038del		p.H1345fs
p.H1398fs
p.H1345fs
p.H1423fs
p.H1345fs
p.H1345fs		-1.891E-5Callaghan2019 G
GOLGA3     1550-22157chr12:
133353255-133353256		TGTexonicframeshift deletionNM_005895c.3942delCp.G1314fs--Callaghan2019 G
ATRNL1     20574-32342chr10:
116931097-116931101		TTCTCTexonicframeshift deletionNM_001276282c.1396_1399delp.S466fs--Callaghan2019 G
ATP11A     21739-34571chr13:
113536239-113536241		ACTAexonicframeshift deletionNM_032189c.3438_3439delp.H1146fs-6.0E-4Callaghan2019 G
CAD     19991-31601chr2:
27445090-27445091		GTGexonicframeshift deletionNM_001306079
NM_004341		c.382delT
c.382delT		p.L128fs
p.L128fs		--Callaghan2019 G
BRD1     1256-20693chr22:
50181377-50181378		CGCexonicframeshift deletionNM_001304808c.2517delCp.S839fs-5.98E-5Callaghan2019 G
HNF1B     21799-35302chr17:
36070588-36070588		TTGGGGGexonicframeshift insertionNM_000458
NM_001165923
NM_001304286		c.1128_1129insCCCCC
c.1050_1051insCCCCC
c.1050_1051insCCCCC		p.S377fs
p.S351fs
p.S351fs		--Callaghan2019 G
HNF1B     21236-33440chr17:
36070588-36070588		TTGGGGGexonicframeshift insertionNM_000458
NM_001165923
NM_001304286		c.1128_1129insCCCCC
c.1050_1051insCCCCC
c.1050_1051insCCCCC		p.S377fs
p.S351fs
p.S351fs		--Callaghan2019 G
HSF2     21854-36022chr6:
122741371-122741371		AATexonicframeshift insertionNM_001243094c.686dupTp.I229fs-7.0E-4Callaghan2019 G
HNF1B     21801-35317chr17:
36070588-36070588		TTGGGGGexonicframeshift insertionNM_000458
NM_001165923
NM_001304286		c.1128_1129insCCCCC
c.1050_1051insCCCCC
c.1050_1051insCCCCC		p.S377fs
p.S351fs
p.S351fs		--Callaghan2019 G
HNF1B     1565-22223chr17:
36070588-36070588		TTGGGGGexonicframeshift insertionNM_000458
NM_001165923
NM_001304286		c.1128_1129insCCCCC
c.1050_1051insCCCCC
c.1050_1051insCCCCC		p.S377fs
p.S351fs
p.S351fs		--Callaghan2019 G
HNF1B     1034-19683chr17:
36070588-36070588		TTGGGGGexonicframeshift insertionNM_000458
NM_001165923
NM_001304286		c.1128_1129insCCCCC
c.1050_1051insCCCCC
c.1050_1051insCCCCC		p.S377fs
p.S351fs
p.S351fs		--Callaghan2019 G
HNF1B     1999-24135chr17:
36070588-36070588		TTGGGGGexonicframeshift insertionNM_000458
NM_001165923
NM_001304286		c.1128_1129insCCCCC
c.1050_1051insCCCCC
c.1050_1051insCCCCC		p.S377fs
p.S351fs
p.S351fs		--Callaghan2019 G
HNF1B     1972-24038chr17:
36070588-36070588		TTGGGGGexonicframeshift insertionNM_000458
NM_001165923
NM_001304286		c.1128_1129insCCCCC
c.1050_1051insCCCCC
c.1050_1051insCCCCC		p.S377fs
p.S351fs
p.S351fs		--Callaghan2019 G
PSD     1711-22976chr10:
104176196-104176197		AGAexonicframeshift deletionNM_002779
NM_001270965		c.599delC
c.599delC		p.P200fs
p.P200fs		--Callaghan2019 G
PPARGC1B     2076-24438chr5:
149212338-149212339		ACAexonicframeshift deletionNM_001172698
NM_001172699
NM_133263		c.586delC
c.511delC
c.703delC		p.P196fs
p.P171fs
p.P235fs		--Callaghan2019 G
RUFY3     1924-23853chr4:
71665895-71665897		TAATexonicframeshift deletionNM_001037442
NM_001291993		c.1596_1597del
c.1437_1438del		p.L532fs
p.L479fs		--Callaghan2019 G
PXK     15210-25677chr3:
58398647-58398657		ACCTCTCACGTAexonicframeshift deletionNM_001289101
NM_001289096
NM_001289100
NM_001289095
NM_001289098
NM_001289099
NM_017771		c.1075_1084del
c.1387_1396del
c.1387_1396del
c.1432_1441del
c.1486_1495del
c.1237_1246del
c.1486_1495del		p.P359fs
p.P463fs
p.P463fs
p.P478fs
p.P496fs
p.P413fs
p.P496fs		--Callaghan2019 G
MUC5B     21742-34594chr11:
1272622-1272624		CTGCexonicframeshift deletionNM_002458c.14513_14514delp.L4838fs--Callaghan2019 G
MUC5B     21742-34594chr11:
1272620-1272620		CCTGexonicframeshift insertionNM_002458c.14510_14511insTGp.T4837fs--Callaghan2019 G
PDHA1     19273-30812chrX:
19377769-19377774		TAAGGGTexonicframeshift deletionNM_001173456
NM_000284
NM_001173455
NM_001173454		c.1079_1225del
c.1172_1318del
c.1193_1339del
c.1286_1432del		p.*360fs
p.*391fs
p.*398fs
p.*429fs		--Callaghan2019 G
OSGIN2     993-20365chr8:
90937720-90937724		ATTTGAexonicframeshift deletionNM_001126111
NM_004337		c.1611_1614del
c.1479_1482del		p.H537fs
p.H493fs		-9.0E-4Callaghan2019 G
WDR47     21686-34166chr1:
109553675-109553677		AATAexonicframeshift deletionNM_001142550
NM_001142551
NM_014969		c.1012_1013del
c.991_992del
c.991_992del		p.I338fs
p.I331fs
p.I331fs		--Callaghan2019 G
TRMT5     1291-21555chr14:
61446300-61446304		CTATTCexonicframeshift deletionNM_020810c.312_315delp.E104fs-9.0E-4Callaghan2019 G
ZNF326     2016-24201chr1:
90493021-90493022		GAGexonicframeshift deletionNM_182976c.1511delAp.D504fs--Callaghan2019 G
ZMYM4     1972-24038chr1:
35885169-35885170		ACAexonicframeshift deletionNM_005095c.4539delCp.D1513fs--Callaghan2019 G
SNX27     2016-24201chr1:
151666073-151666077		ATTAGAexonicframeshift deletionNM_030918c.1584_1587delp.Y528fs-2.471E-5Callaghan2019 G
SALL1     187-13717chr16:
51175657-51175659		CTGCexonicframeshift deletionNM_001127892
NM_002968		c.183_184del
c.474_475del		p.S61fs
p.S158fs		-5.887E-5Callaghan2019 G
TCERG1     20574-32342chr5:
145847922-145847926		TAGTCTexonicframeshift deletionNM_006706c.1155_1158delp.I385fs--Callaghan2019 G
ST18     19275-30820chr8:
53045827-53045829		CGTCexonicframeshift deletionNM_014682c.2333_2334delp.H778fs--Callaghan2019 G
Source Variant Information

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Paper Information
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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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