|
C0001
|
CNV |
NA |
chr16: g.0_0del |
non-isolated CHD: PAS, PDA |
|
C0002
|
CNV |
NA |
chr1: g.144106312_145848312dup |
isolated CHD: TOF |
|
C0003
|
CNV |
GJA5 |
chr1: g.145658465_145658583dup |
isolated CHD: PA |
|
C0004
|
CNV |
NA |
chr1: g.144967972_146386972del |
isolated CHD: TGA |
|
C0005
|
CNV |
NA |
chr1: g.144967972_146292972del |
isolated CHD: ASD |
|
C0006
|
CNV |
NA |
chr1: g.144967972_146292972del |
non-isolated CHD: MV, VSD |
|
C0007
|
CNV |
NA |
chr1: g.144943150_146293150dup |
isolated CHD: TOF |
|
C0008
|
CNV |
NA |
chr1: g.144943150_146293150dup |
isolated CHD: TOF |
|
C0009
|
CNV |
NA |
chr1: g.144943150_146293150dup |
isolated CHD: TOF |
|
C0010
|
CNV |
NA |
chr1: g.144967972_146292972dup |
isolated CHD: TOF |
|
C0011
|
CNV |
NA |
chr1: g.144967972_146292972dup |
isolated CHD: TOF |
|
C0012
|
CNV |
NA |
chr1: g.144967972_146288972dup |
isolated CHD: TOF |
|
C0013
|
CNV |
NA |
chr1: g.144967972_144968852dup |
non-isolated CHD: TOF, PA |
|
C0014
|
CNV |
TMEM130, TRRAP, SMURF1 |
HG18 chr7: g.0_0dup |
isolated CHD: AC |
|
C0015
|
CNV |
ZNF710, IDH2, SEMA4B, CIB1, LOC390637, TTLL13, NGRN, ZNF774, QGAP1 |
HG18 chr15: g.0_0dup |
isolated CHD: VSD |
|
C0016
|
CNV |
TBX1 |
HG18 chr22: g.0_0dup |
isolated CHD: VSD |
|
C0017
|
CNV |
SPOCK3, ANXA10 |
HG18 chr4: g.0_0dup |
non-isolated CHD: VSD, PDA |
|
C0018
|
CNV |
NA |
HG18 chr10: g.0_0dup |
isolated CHD: PS |
|
C0019
|
CNV |
OPCML |
HG18 chr11: g.0_0dup |
isolated CHD: VSD |
|
C0020
|
CNV |
KIAA0564, DGKH |
HG18 chr13: g.0_0dup |
non-isolated CHD: BAV, AI |
|
C0021
|
CNV |
MACROD2 |
HG18 chr20: g.0_0del |
non-isolated CHD: AS, BAV |
|
C0022
|
CNV |
HIC2, UBE2L3, YDJC, CCDC116, SDF2L1, PPIL2, YPEL1, MAPK1,
PPM1F, TOP3B, VPREB1, ZNF280B, ZNF280A, PRAME, GGTLC2 |
HG18 chr22: g.0_0dup |
non-isolated CHD: SA, VSD, TVD, RVH |
|
C0023
|
CNV |
TBX1 |
HG18 chr22: g.0_0del |
non-isolated CHD: AC, VSD |
|
C0024
|
CNV |
TNFSF11, C13orf30, EPSTI1, DNAJD2, ENOX1, CDC122, C13orf31C |
HG18 chr13: g.0_0dup |
non-isolated CHD: ALV, TAPVC, VSD |
|
C0025
|
CNV |
RAI1 |
HG18 chr17: g.0_0del |
non-isolated CHD: VSD, ASD |
|
C0026
|
CNV |
CD160, PDZK1, NBPF11, PRKAB2, FMO5, CHD1L, BCL9, ACP6,
GJA5, GJA8, GPR89, FLJ39739 |
HG18 chr1: g.0_0del |
non-isolated CHD: ASD, PDA |
|
C0027
|
CNV |
BIRC6, TTC27, LTBP1 |
HG18 chr2: g.0_0dup |
isolated CHD: VSD |
|
C0028
|
CNV |
SLC25A38, RPSA, MOBP |
HG18 chr3: g.0_0dup |
isolated CHD: AC |
|
C0029
|
CNV |
FAM62C, CEP70, FAIM, PIK3CB, FOXL2, BPESC1 |
HG18 chr3: g.0_0dup |
isolated CHD: TAPVC |
|
C0030
|
CNV |
MEGF10, PRRC1, CTXN3 |
HG18 chr5: g.0_0dup |
non-isolated CHD: DORV, CoA |
|
C0031
|
CNV |
Gene empty region |
HG18 chr11: g.0_0dup |
isolated CHD: TOF |
|
C0032
|
CNV |
NA |
chr22: g.17370128_19790009del |
non-isolated CHD: IAA, VSD |
|
C0033
|
CNV |
HAO1, TMX4, PLCB1 |
chr20: g.7042566_8563472del |
isolated CHD: AVSD |
|
C0034
|
CNV |
NA |
chr3: g.164859888_165867655del |
isolated CHD: AVSD |
|
C0035
|
CNV |
SFPQ |
HG18 chr1: g.35138921_35758859del |
isolated CHD: TOF |
|
C0036
|
CNV |
NA |
HG18 chr2: g.154772039_156750990dup |
isolated CHD: TOF |
|
C0037
|
CNV |
EDIL3, cVCAN |
HG18 chr5: g.80665064_86119882dup |
isolated CHD: TOF |
|
C0038
|
CNV |
NA |
HG18 chr2: g.188273007_188973872del |
isolated CHD: TOF |
|
C0039
|
CNV |
CHL1 |
HG18 chr3: g.60002_1055034dup |
isolated CHD: TOF |
|
C0040
|
CNV |
NA |
HG18 chr4: g.28835868_34833117del |
isolated CHD: TOF |
|
C0041
|
CNV |
NA |
HG18 chr4: g.188923641_189437641del |
isolated CHD: TOF |
|
C0042
|
CNV |
SLC25A46 |
HG18 chr5: g.109622167_110233167dup |
isolated CHD: TOF |
|
C0043
|
CNV |
NA |
HG18 chr5: g.130124159_130935159dup |
isolated CHD: TOF |
|
C0044
|
CNV |
SOX4 |
HG18 chr6: g.21587649_23687649dup |
isolated CHD: TOF |
|
C0045
|
CNV |
NA |
HG18 chr6: g.61987979_62978979dup |
isolated CHD: TOF |
|
C0046
|
CNV |
NA |
HG18 chr6: g.81166965_81926965dup |
isolated CHD: TOF |
|
C0047
|
CNV |
GJA5 |
HG18 chr1: g.143590972_147572692dup |
isolated CHD: TOF |
|
C0048
|
CNV |
NA |
HG18 chr7: g.57264874_57910660dup |
isolated CHD: TOF |
|
C0049
|
CNV |
C12orf66 |
HG18 chr12: g.62843704_62921704dup |
isolated CHD: TOF |
|
C0050
|
CNV |
NA |
HG18 chr8: g.3778626_5938257dup |
isolated CHD: TOF |
|
C0051
|
CNV |
ANGPT2 |
HG18 chr8: g.6187821_7225430del |
isolated CHD: TOF |
|
C0052
|
CNV |
NA |
HG18 chr8: g.47203026_48101825dup |
isolated CHD: TOF |
|
C0053
|
CNV |
NA |
HG18 chr9: g.38951514_40609761dup |
isolated CHD: TOF |
|
C0054
|
CNV |
NA |
HG18 chr10: g.41941187_42694002dup |
isolated CHD: TOF |
|
C0055
|
CNV |
NA |
HG18 chr10: g.125510180_126253484dup |
isolated CHD: TOF |
|
C0056
|
CNV |
CASP1, CASP4, CASP5,
CASP12 |
HG18 chr11: g.103542068_104794260dup |
isolated CHD: TOF |
|
C0057
|
CNV |
NA |
HG18 chr12: g.33432314_34007723del |
isolated CHD: TOF |
|
C0058
|
CNV |
NA |
HG18 chr12: g.125358126_126151370del |
isolated CHD: TOF |
|
C0059
|
CNV |
GJA5 |
HG18 chr1: g.144643825_146273899dup |
isolated CHD: TOF |
|
C0060
|
CNV |
NBEA, PDS5B, SPG20 |
HG18 chr13: g.31086497_35813387del |
isolated CHD: TOF |
|
C0061
|
CNV |
TNFSF11 |
HG18 chr13: g.42009354_42564700dup |
isolated CHD: TOF |
|
C0062
|
CNV |
NA |
HG18 chr13: g.103096790_103922205dup |
isolated CHD: TOF |
|
C0063
|
CNV |
HNF1B |
HG18 chr17: g.31610407_33552902dup |
isolated CHD: TOF |
|
C0064
|
CNV |
WNK3 |
HG18 chrX: g.54374737_54424737dup |
isolated CHD: TOF |
|
C0065
|
CNV |
HIRIP3, MAPK3, PPP4C, TBX6 |
HG18 chr16: g.29487535_30085309dup |
isolated CHD: TOF |
|
C0066
|
CNV |
NXN |
HG18 chr17: g.366915_910860dup |
isolated CHD: TOF |
|
C0067
|
CNV |
NA |
HG18 chr17: g.5528898_6196702del |
isolated CHD: TOF |
|
C0068
|
CNV |
FOXO3B |
HG18 chr17: g.18296117_18991652dup |
isolated CHD: TOF |
|
C0069
|
CNV |
CNN2, FSTL3, PTBP1, WDR18 |
HG18 chr19: g.183496_989223del |
isolated CHD: TOF |
|
C0070
|
CNV |
GNA11, S1PR4 |
HG18 chr19: g.2500048_3208416dup |
isolated CHD: TOF |
|
C0071
|
CNV |
GJA5 |
HG18 chr1: g.144643825_146311415dup |
isolated CHD: TOF |
|
C0072
|
CNV |
ZNF347 |
HG18 chr19: g.57807872_58437550dup |
isolated CHD: TOF |
|
C0073
|
CNV |
NA |
HG18 chr21: g.20282405_20842782dup |
isolated CHD: TOF |
|
C0074
|
CNV |
CRKL, HIRA, TBX1 |
HG18 chr22: g.17190110_19364810dup |
isolated CHD: TOF |
|
C0075
|
CNV |
NA |
HG18 chr21: g.29607482_30244785del |
isolated CHD: TOF |
|
C0076
|
CNV |
PLXNA2 |
HG18 chr1: g.206337728_206399274del |
isolated CHD: TOF |
|
C0077
|
CNV |
NA |
HG18 chrX: g.13788639_14404579dup |
isolated CHD: TOF |
|
C0078
|
CNV |
GJA5 |
HG18 chr1: g.145700719_145711066dup |
isolated CHD: TOF |
|
C0079
|
CNV |
RAF1 |
HG18 chr3: g.12665657_12682841del |
isolated CHD: TOF |
|
C0080
|
CNV |
ANGPT2 |
HG18 chr8: g.6342621_6402283del |
isolated CHD: TOF |
|
C0081
|
CNV |
NBEA |
HG18 chr13: g.34960143_34980763del |
isolated CHD: TOF |
|
C0082
|
CNV |
CECR5 |
HG18 chr22: g.16014050_16032050del |
isolated CHD: TOF |
|
C0083
|
CNV |
CDH19 |
HG18 chr18: g.62118826_62372859del |
isolated CHD: TOF |
|
C0084
|
CNV |
PLXNA2 |
HG18 chr1: g.206369712_206379934del |
isolated CHD: TOF |
|
C0085
|
CNV |
GJA5 |
HG18 chr1: g.144643825_146395961dup |
isolated CHD: TOF |
|
C0086
|
CNV |
CHRM3 |
HG18 chr1: g.237983869_238365506dup |
isolated CHD: TOF |
|
C0087
|
CNV |
CHRM3 |
HG18 chr1: g.238098745_238109313del |
isolated CHD: TOF |
|
C0088
|
CNV |
CCDC148 |
HG18 chr2: g.158961179_159012386del |
isolated CHD: TOF |
|
C0089
|
CNV |
CCDC148 |
HG18 chr2: g.158961179_159012386del |
isolated CHD: TOF |
|
C0090
|
CNV |
BARD1 |
HG18 chr2: g.215266200_215351867del |
isolated CHD: TOF |
|
C0091
|
CNV |
BARD1 |
HG18 chr2: g.215321117_215380434del |
isolated CHD: TOF |
|
C0092
|
CNV |
PPM1K |
HG18 chr4: g.89393217_89448854dup |
isolated CHD: TOF |
|
C0093
|
CNV |
FSTL4 |
HG18 chr5: g.132946021_132961028del |
isolated CHD: TOF |
|
C0094
|
CNV |
FSTL4 |
HG18 chr5: g.132953135_132963633del |
isolated CHD: TOF |
|
C0095
|
CNV |
GMDS |
HG18 chr6: g.1939891_1951033del |
isolated CHD: TOF |
|
C0096
|
CNV |
DISP1 |
HG18 chr1: g.220214502_221265766del |
isolated CHD: TOF |
|
C0097
|
CNV |
ARHGEF10 |
HG18 chr8: g.1716624_1873450dup |
isolated CHD: TOF |
|
C0098
|
CNV |
ARHGEF10 |
HG18 chr8: g.1736348_1762248del |
isolated CHD: TOF |
|
C0099
|
CNV |
KCNB2 |
HG18 chr8: g.73871523_73950003dup |
isolated CHD: TOF |
|
C0100
|
CNV |
KCNB2 |
HG18 chr8: g.73885905_74010694dup |
isolated CHD: TOF |
|
C0101
|
CNV |
C12ORF66 |
HG18 chr12: g.62843704_62921993dup |
isolated CHD: TOF |
|
C0102
|
CNV |
KIAA1609 |
HG18 chr16: g.83066869_83082922del |
isolated CHD: TOF |
|
C0103
|
CNV |
KIAA1609 |
HG18 chr16: g.83094514_83120896del |
isolated CHD: TOF |
|
C0104
|
CNV |
CHST8 |
HG18 chr19: g.38902591_38929184dup |
isolated CHD: TOF |
|
C0105
|
CNV |
CHST8 |
HG18 chr19: g.38902591_38926410dup |
isolated CHD: TOF |
|
C0106
|
CNV |
CECR5 |
HG18 chr22: g.15996510_16015490del |
isolated CHD: TOF |
|
C0107
|
CNV |
LBH |
HG18 chr2: g.29418234_30987444dup |
isolated CHD: TOF |
|
C0108
|
CNV |
WNK3 |
HG18 chrX: g.54325120_54472796dup |
isolated CHD: TOF |
|
C0109
|
CNV |
IDS |
HG18 chrX: g.148308784_148462406dup |
isolated CHD: TOF |
|
C0110
|
CNV |
IDS |
HG18 chrX: g.148377523_148628360dup |
isolated CHD: TOF |
|
C0111
|
CNV |
FGF10 |
HG18 chr5: g.44314920_44450566del |
isolated CHD: TOF |
|
C0112
|
CNV |
SNX8 |
HG18 chr7: g.2310838_2490906del |
isolated CHD: TOF |
|
C0113
|
CNV |
DNAH11 |
HG18 chr7: g.21570799_21750666del |
isolated CHD: TOF |
|
C0114
|
CNV |
BBS9 |
HG18 chr7: g.33293709_33552763del |
isolated CHD: TOF |
|
C0115
|
CNV |
SEMA3E |
HG18 chr7: g.82968279_83020607del |
isolated CHD: TOF |
|
C0116
|
CNV |
SEMA3D |
HG18 chr7: g.84477068_84486659del |
isolated CHD: TOF |
|
C0117
|
CNV |
NA |
HG18 chr2: g.97982662_98531050dup |
isolated CHD: TOF |
|
C0118
|
CNV |
ARHGEF4 |
HG18 chr2: g.131194418_132021416del |
isolated CHD: TOF |
|
C0119
|
CNV |
SMC1A, RJBC1, IQSEC2, HSD17B10 |
chrX: g.0_0dup |
isolated CHD: DOA |
|
C0120
|
CNV |
PXDNL |
chr8: g.0_0dup |
isolated CHD: LS-CHD |
|
C0121
|
CNV |
PXDNL |
chr8: g.0_0dup |
isolated CHD: LS-CHD |
|
C0122
|
CNV |
SMC1A, RJBC1, IQSEC2, HSD17B10 |
chrX: g.0_0dup |
non-isolated CHD: DOA, LS-CHD |
|
C0123
|
CNV |
PXDNL |
chr8: g.0_0dup |
non-isolated CHD: DOA, LS-CHD |
|
C0124
|
CNV |
PARP14, HSPBAP1, DIRC2, SEMA5 |
chr 3: g.0_0dup |
non-isolated CHD: DOA, VSD, BAV |
|
C0125
|
CNV |
LIMS1 |
NA |
non-isolated CHD: DOA, VSD, BAV |
|
C0126
|
CNV |
PARP14, HSPBAP1, DIRC2, SEMA5 |
chr 3: g.0_0dup |
non-isolated CHD: BAV, CoA, VSD |
|
C0127
|
CNV |
LIMS1 |
NA |
non-isolated CHD: BAV, CoA, VSD |
|
C0128
|
CNV |
NA |
chr1: g.0_0par |
non-isolated CHD: BAV, CoA, VSD |
|
C0129
|
CNV |
MSX1, EVC, EVC2 |
NA |
isolated CHD: LS-CHD |
|
C0130
|
CNV |
KDELC1, C13orf39, C13orf40, C13orf27, TPP2, BIVM, ERCC5 |
chr13: g.0_0dup |
non-isolated CHD: LS-CHD, other |
|
C0131
|
CNV |
KDELC1, C13orf39, C13orf40, C13orf27, TPP2, BIVM, ERCC5 |
chr13: g.0_0dup |
isolated CHD: LS-CHD |
|
C0132
|
CNV |
NGEF |
chr2: g.0_0del |
isolated CHD: LS-CHD |
|
C0133
|
CNV |
NGEF |
chr2: g.0_0del |
isolated CHD: LS-CHD |
|
C0134
|
CNV |
NA |
NA |
non-isolated CHD: NA |
|
C0135
|
CNV |
OR6S1, ANG, RNASE4 |
chr14: g.0_0del |
non-isolated CHD: LS-CHD, other |
|
C0136
|
CNV |
OR6S1, ANG, RNASE4 |
chr14: g.0_0del |
isolated CHD: LS-CHD |
|
C0137
|
CNV |
NFATC1 |
chr18: g.0_0dup |
isolated CHD: VSD |
|
C0138
|
CNV |
AK097143 |
chr6: g.142187041_142290041del |
isolated CHD: VSD |
|
C0139
|
CNV |
CRKL |
chr22: g.0_0del |
isolated CHD: VSD |
|
C0140
|
CNV |
PLXNA1 |
chr3: g.0_0dup |
isolated CHD: ASD |
|
C0141
|
CNV |
WWOX |
chr16: g.76976883_77088883dup |
isolated CHD: ASD |
|
C0142
|
CNV |
WWOX |
chr16: g.76976883_77088883dup |
isolated CHD: ASD |
|
C0143
|
CNV |
WWOX, CLEC3A, VAT1L |
chr16: g.76450854_76562854dup |
isolated CHD: PDA |
|
C0144
|
CNV |
CDC14B, ZNF510, C9orf21 |
chr9: g.98386288_98560288dup |
isolated CHD: ASD |
|
C0145
|
CNV |
CDC14B, ZNF510, C9orf21 |
chr9: g.98386288_98563288dup |
isolated CHD: ASD |
|
C0146
|
CNV |
AK097143 |
chr6: g.142083736_142203736del |
isolated CHD: ASD |
|
C0147
|
CNV |
NA |
chr17: g.87009_1184534del |
non-isolated CHD: VSD, PS |
|
C0148
|
CNV |
NA |
chr22: g.18919942_21440514del |
non-isolated CHD: VSD, PS |
|
C0149
|
CNV |
NA |
chr8: g.7753524_1184101dup |
non-isolated CHD: DORV, CoA, LSVC, MA, VSD, CSD |
|
C0150
|
CNV |
NA |
chr10: g.131585685_134832720del |
non-isolated CHD: VSD, OA, RVHP |
|
C0151
|
CNV |
NA |
chr6: g.93609026_96533581dup |
non-isolated CHD: VSD, OA, RVHP |
|
C0152
|
CNV |
MYL2 |
chr6: g.5067718_5210399dup |
non-isolated CHD: VSD, PS, right atrial dilatation |
|
C0153
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: TOF |
|
C0154
|
CNV |
NA |
chr22: g.0_0del |
non-isolated CHD: TOF, PDA/PA, PDA |
|
C0155
|
CNV |
NA |
chr22: g.0_0del |
non-isolated CHD: TOF, MAPCA/PA, MAPCA |
|
C0156
|
CNV |
NA |
chr22: g.0_0del |
non-isolated CHD: TOF, APV |
|
C0157
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: IAA |
|
C0158
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: VSD |
|
C0159
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: DORV |
|
C0160
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: CoA |
|
C0161
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: PTA |
|
C0162
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: AVS |
|
C0163
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: HLHS |
|
C0164
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: RAA |
|
C0165
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: BSVC |
|
C0166
|
CNV |
DGKD, USP40 |
chr2: g.234255714_234415570del |
isolated CHD: PA |
|
C0167
|
CNV |
NR5A1, NR6A1 |
chr9: g.127104486_127759670dup |
isolated CHD: PA |
|
C0168
|
CNV |
CUBN |
chr10: g.16883466_17058324dup |
isolated CHD: PA |
|
C0169
|
CNV |
FGF14 |
chr13: g.102902377_103345247dup |
isolated CHD: PA |
|
C0170
|
CNV |
IGF1R, SYNM |
chr15: g.99004156_99782996dup |
isolated CHD: PA |
|
C0171
|
CNV |
MYH11, ABCC6, NDE1 |
chr16: g.15395312_16270740dup |
isolated CHD: PA |
|
C0172
|
CNV |
ABCA3, TSC2, PKD1, TBC1D24 |
chr16: g.1866643_2604949del |
isolated CHD: PA |
|
C0173
|
CNV |
CAMTA2, CHRNE, GP1BA, ENO3 |
chr17: g.4041358_5091377del |
isolated CHD: PA |
|
C0174
|
CNV |
TBX1 |
chr22: g.17255869_18692668del |
isolated CHD: PA |
|
C0175
|
CNV |
TBX1 |
chr22: g.17089407_19795050del |
isolated CHD: PA |
|
C0176
|
CNV |
TBX1 |
chr22: g.17101361_19801287del |
isolated CHD: PA |
|
C0177
|
CNV |
NA |
chr3: g.204652_4944387del |
isolated CHD: PA |
|
C0178
|
CNV |
TBX1 |
chr22: g.17255869_19795050del |
isolated CHD: PA |
|
C0179
|
CNV |
NA |
chr10: g.59083_5276600dup |
isolated CHD: PA |
|
C0180
|
CNV |
NA |
chr3: g.38411_4944387del |
isolated CHD: PA |
|
C0181
|
CNV |
NA |
chr10: g.103934_5297659dup |
isolated CHD: PA |
|
C0182
|
CNV |
SMN1, SMN2 |
chr5: g.68930217_70573127del |
isolated CHD: PA |
|
C0183
|
CNV |
DHFR, DMGDH, PDE8B, AP3B, ARSB |
chr5: g.75132315_79958945dup |
isolated CHD: PA |
|
C0184
|
CNV |
NFKBIL1, LTA, TNF, NCR3 |
chr6: g.31467185_31569111del |
isolated CHD: PA |
|
C0185
|
CNV |
NFKBIL1, LTA, TNF, NCR3 |
chr6: g.31467627_3157090del |
isolated CHD: PA |
|
C0186
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: TOF |
|
C0187
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: TOF |
|
C0188
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: TOF |
|
C0189
|
CNV |
NA |
chr22: g.0_0dup |
non-isolated CHD: VSD, PS |
|
C0190
|
CNV |
NA |
chr22: g.0_0dup |
isolated CHD: ECD |
|
C0191
|
CNV |
NA |
chr0: g.0_0neg |
isolated CHD: NA |
|
C0192
|
CNV |
NA |
chr0: g.0_0neg |
isolated CHD: NA |
|
C0193
|
CNV |
JUN |
chr1: g.59247993_59251097del |
isolated CHD: HLHS |
|
C0194
|
CNV |
CCDC127,
LRRC14B,
PLEKHG4B, SDHA |
chr5: g.136464_232969dup |
isolated CHD: TOF |
|
C0195
|
CNV |
CDKN1A |
chr6: g.36646788_36651971del |
isolated CHD: HTX |
|
C0196
|
CNV |
POLR1C |
chr6: g.43484783_43485159dup |
isolated CHD: TOF |
|
C0197
|
CNV |
C7orf55, FAM115A, LUC7L2, MKRN1,
NDUFB2, UBN2, ZC3HAV1L, ZYX |
chr7: g.138258252_143807632del |
isolated CHD: TOF |
|
C0198
|
CNV |
D203MTRNR2L6,
PRSS1 |
chr7: g.142334207_142460871del |
isolated CHD: TOF |
|
C0199
|
CNV |
GATA4 |
chr8: g.8067768_12530976dup |
isolated CHD: TOF |
|
C0200
|
CNV |
GATA4 |
chr8: g.11606428_11710963del |
isolated CHD: TOF |
|
C0201
|
CNV |
CAT |
chr11: g.34458230_34460862del |
isolated CHD: VSD |
|
C0202
|
CNV |
HNRNPKP3 |
chr11: g.42968283_42970488dup |
isolated CHD: ASD |
|
C0203
|
CNV |
EHBP1L1, LTBP3, MAP3K11, PCNXL3, SCYL1, SSSCA1 |
chr11: g.65157239_65408708del |
non-isolated CHD: TOF, PA |
|
C0204
|
CNV |
GJA5 |
chr1: g.145586403_145799634dup |
non-isolated CHD: TOF, APV |
|
C0205
|
CNV |
LOC283177 |
chr11: g.134598043_134617838dup |
isolated CHD: VSD |
|
C0206
|
CNV |
SLC2A14, SLC2A3 |
chr12: g.8003758_8123306dup |
non-isolated CHD: LVNC, VSD |
|
C0207
|
CNV |
KRT6C |
chr12: g.52845952_52862783del |
isolated CHD: HLHS |
|
C0208
|
CNV |
TIMM9, TOMM20L |
chr14: g.58860893_58881694del |
isolated CHD: TOF |
|
C0209
|
CNV |
LIN52 |
chr14: g.74551632_74551731dup |
isolated CHD: TOF |
|
C0210
|
CNV |
CYFIP1 |
chr15: g.22296985_23161330dup |
isolated CHD: CoA |
|
C0211
|
CNV |
CYFIP1 |
chr15: g.22750305_23140114dup |
isolated CHD: CoA |
|
C0212
|
CNV |
CYFIP1 |
chr15: g.22750305_23228712del |
non-isolated CHD: TOF, PA |
|
C0213
|
CNV |
HERC2 |
chr15: g.28389771_28446734del |
isolated CHD: ASD |
|
C0214
|
CNV |
EIF3J, SPG11 |
chr15: g.44833588_44856873del |
non-isolated CHD: TA, D-TGA |
|
C0215
|
CNV |
GJA5 |
chr1: g.146631133_147416212dup |
isolated CHD: TOF |
|
C0216
|
CNV |
NTRK3 |
chr15: g.88761539_88779300dup |
non-isolated CHD: TOF, D-TGA |
|
C0217
|
CNV |
TOP2A |
chr17: g.38544624_38548586del |
isolated CHD: TOF |
|
C0218
|
CNV |
EIF1 |
chr17: g.39845210_39846477dup |
isolated CHD: TOF |
|
C0219
|
CNV |
C5AR1, C5AR2, DHX34 |
chr19: g.47792293_47905132del |
non-isolated CHD: TOF, PA |
|
C0220
|
CNV |
MACROD2, MACROD2-IT1 |
chr20: g.14529657_14583899del |
isolated CHD: D-TGA |
|
C0221
|
CNV |
TBX1 |
chr22: g.19020529_21380382del |
isolated CHD: TOF |
|
C0222
|
CNV |
NA |
chr22: g.25661725_25919492dup |
isolated CHD: TOF |
|
C0223
|
CNV |
APOL5, APOL6, RBFOX2 |
chr22: g.36038076_36149338del |
isolated CHD: HLHS |
|
C0224
|
CNV |
DDX53, RP11-40F8.2 |
chrX: g.23003525_23086619dup |
non-isolated CHD: TOF, D-TGA |
|
C0225
|
CNV |
OR2T10, OR2T11 |
chr1: g.248750565_248795110dup |
isolated CHD: HLHS |
|
C0226
|
CNV |
PCBP1 |
chr2: g.70168995_70359345del |
non-isolated CHD: TOF, PA |
|
C0227
|
CNV |
MAP4K4 |
chr2: g.0_103001458del |
isolated CHD: HLHS |
|
C0228
|
CNV |
ZEB2 |
chr2: g.145155868_145274931del |
isolated CHD: HLHS |
|
C0229
|
CNV |
BTD, HACL1 |
chr3: g.15637812_15643461dup |
isolated CHD: TOF |
|
C0230
|
CNV |
CDC25A, DHX30, MAP4, SMARCC1 |
chr3: g.47780965_48309270dup |
isolated CHD: HLHS |
|
C0231
|
CNV |
NA |
chr15: g.0_0dup |
isolated CHD: AS |
|
C0232
|
CNV |
NA |
chr2: g.0_0dup |
isolated CHD: HLHS |
|
C0233
|
CNV |
NA |
chr2: g.0_0del |
isolated CHD: HLHS |
|
C0234
|
CNV |
NA |
chr12: g.0_0dup |
isolated CHD: HLHS |
|
C0235
|
CNV |
NA |
chr5: g.0_0del |
isolated CHD: HLHS |
|
C0236
|
CNV |
NA |
chr8: g.0_0dup |
isolated CHD: HLHS |
|
C0237
|
CNV |
NA |
chr9: g.0_0del |
isolated CHD: HLHS |
|
C0238
|
CNV |
NA |
chrX: g.0_0dup |
isolated CHD: IAA |
|
C0239
|
CNV |
NA |
chrY: g.0_0del |
isolated CHD: IAA |
|
C0240
|
CNV |
NA |
chr7: g.0_0dup |
isolated CHD: IAA |
|
C0241
|
CNV |
NA |
chr22: g.0_0dup |
non-isolated CHD: PA, VSD |
|
C0242
|
CNV |
NA |
chr20: g.0_0dup |
non-isolated CHD: PA, VSD |
|
C0243
|
CNV |
NA |
chr15: g.0_0dup |
isolated CHD: PS |
|
C0244
|
CNV |
NA |
chr8: g.0_0dup |
isolated CHD: CoA |
|
C0245
|
CNV |
NA |
chr2: g.0_0del |
isolated CHD: Septation defects |
|
C0246
|
CNV |
NA |
chr5: g.0_0dup |
isolated CHD: Septation defects |
|
C0247
|
CNV |
NA |
chr16: g.0_0del |
isolated CHD: TOF |
|
C0248
|
CNV |
NA |
chr20: g.0_0del |
isolated CHD: TOF |
|
C0249
|
CNV |
NA |
chr22: g.0_0dup |
isolated CHD: TOF |
|
C0250
|
CNV |
NA |
chr15: g.0_0del |
isolated CHD: TAPVR |
|
C0251
|
CNV |
NA |
chr5: g.0_0dup |
isolated CHD: TAPVR |
|
C0252
|
CNV |
NA |
chr13: g.0_0dup |
isolated CHD: TA |
|
C0253
|
CNV |
NA |
chr16: g.0_0del |
isolated CHD: VSD |
|
C0254
|
CNV |
NA |
chrX: g.0_0del |
isolated CHD: DORV |
|
C0255
|
CNV |
NA |
chr4: g.0_0del |
isolated CHD: DORV |
|
C0256
|
CNV |
NA |
chr17: g.0_0dup |
isolated CHD: DORV |
|
C0257
|
CNV |
NA |
chr2: g.0_0del |
isolated CHD: DORV |
|
C0258
|
CNV |
NA |
chr5: g.0_0del |
isolated CHD: DORV |
|
C0259
|
CNV |
NA |
chr22: g.0_0dup |
isolated CHD: EA |
|
C0260
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: CoA |
|
C0261
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: DORV |
|
C0262
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: IAA |
|
C0263
|
CNV |
NA |
chr22: g.0_0del |
non-isolated CHD: PA, VSD |
|
C0264
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: TOF |
|
C0265
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: TA |
|
C0266
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: VSD |
|
C0267
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: CTDs |
|
C0268
|
CNV |
MIR598, MTMR9, SLC35G5, TDH,
C8orf12, FAM167A,
BLK, LINC00208,
GATA4, NEIL2, FDFT1, CTSB, REPPb |
chr8: g.1077663_11858466dup |
non-isolated CHD: CIAV, CoA, VSD, parachute mitral valve, transverse hypoplasia |
|
C0269
|
CNV |
PLB1, PPP1CB, SPDYA, TRMT61B,
WDR43, FAM179A, C2orf71, CLIP4 |
chr2: g.28796008_29320823dup |
isolated CHD: CoA |
|
C0270
|
CNV |
LMO7 |
chr13: g.76391357_76408458del |
isolated CHD: CoA |
|
C0271
|
CNV |
MAFF, TMEM184B |
chr22: g.38609792_38627292dup |
isolated CHD: CoA |
|
C0272
|
CNV |
RASA2 |
chr3: g.141272742_141385600del |
isolated CHD: CoA |
|
C0273
|
CNV |
PDE8A |
chr15: g.85606120_85682231dup |
isolated CHD: CoA |
|
C0274
|
CNV |
GLIS3, GLIS3-AS1 |
chr9: g.3781683_4161396dup |
isolated CHD: CoA |
|
C0275
|
CNV |
PDCD1LG2, KIAA1432 |
chr9: g.5534835_5765850dup |
isolated CHD: CoA |
|
C0276
|
CNV |
ADH1B |
chr4: g.100226779_100242071dup |
isolated CHD: TGA |
|
C0277
|
CNV |
FAN1, MTMR10, TRPM1, MIR211, RP11-16E12.2, KLF13, OTUD7A, CHRNA7 |
chr15: g.31196707_32404023dup |
isolated CHD: TGA |
|
C0278
|
CNV |
PRDM5 |
chr4: g.121616153_121698352del |
isolated CHD: TGA |
|
C0279
|
CNV |
VPS13B |
chr8: g.100205095_100403786del |
isolated CHD: TGA |
|
C0280
|
CNV |
FBN1 |
chr5: g.48883414_48900202dup |
isolated CHD: TGA |
|
C0281
|
CNV |
WDR33 |
chr2: g.128476795_128484318del |
isolated CHD: TGA |
|
C0282
|
CNV |
CSMD1 |
chr8: g.2975904_3226799del |
isolated CHD: TGA |
|
C0283
|
CNV |
MAD1L1, FTSJ2 |
chr7: g.2255641_2275168del |
isolated CHD: CoA |
|
C0284
|
CNV |
ASAP2, ITGB1BP1, CPSF3, IAH1, ADAM17 |
chr2: g.9525380_9650247dup |
isolated CHD: TGA |
|
C0285
|
CNV |
LRCH3, IQCG, RPL35A, LMLN,
ANKRD18DP |
chr3: g.197566221_197807478dup |
isolated CHD: TGA |
|
C0286
|
CNV |
RLN3, IL27RA |
chr19: g.14138589_14159806dup |
isolated CHD: TGA |
|
C0287
|
CNV |
PNPLA4 |
chrX: g.7866965_7923963dup |
isolated CHD: TGA |
|
C0288
|
CNV |
BTRC, POLL |
chr10: g.103190059_103342592dup |
isolated CHD: TGA |
|
C0289
|
CNV |
DAOA-AS1, DAOA, LINC00343 |
chr13: g.105161812_106809573dup |
isolated CHD: TGA |
|
C0290
|
CNV |
BTRC |
chr10: g.103291033_103317035dup |
isolated CHD: TGA |
|
C0291
|
CNV |
CEP85L, BRD7P3, PLN |
chr6: g.118771397_119031236dup |
isolated CHD: TGA |
|
C0292
|
CNV |
ST18, FAM150A, RB1CC1 |
chr8: g.53161037_53599551dup |
isolated CHD: TGA |
|
C0293
|
CNV |
EXOSC9, CCNA2 |
chr4: g.122735142_122739763dup |
isolated CHD: TGA |
|
C0294
|
CNV |
NUSAP1, NDUFAF1 |
chr15: g.41663852_41689386del |
isolated CHD: TGA |
|
C0295
|
CNV |
SORBS2 |
chr4: g.186558702_186625136dup |
isolated CHD: TGA |
|
C0296
|
CNV |
CNNM2, NT5C2 |
chr10: g.104828409_104857092del |
isolated CHD: CoA |
|
C0297
|
CNV |
ACSL6, LOC728637 |
chr5: g.131247533_131312372dup |
isolated CHD: TGA |
|
C0298
|
CNV |
CSRP2BP, ZNF133, LINC00851, DZANK1,
POLR3F, MIR3192, RBBP9, SEC23B |
chr20: g.18162446_18505596dup |
isolated CHD: TGA |
|
C0299
|
CNV |
CDR2, PRN3P3 |
chr16: g.22357397_22431498dup |
isolated CHD: TGA |
|
C0300
|
CNV |
TCTE3, ERMARD, LINC00242, LINC00574 |
chr6: g.170140381_170202588dup |
isolated CHD: TGA |
|
C0301
|
CNV |
CAST, ERAP1 |
chr5: g.96107398_96143818dup |
isolated CHD: TGA |
|
C0302
|
CNV |
BASP1P1, SGCG, SACS, SACS-AS1, LINC00327, TNFRSF19, MIPEP,
C1QTNF9B-AS1, ANKRD20A19P |
chr13: g.23235248_24515626dup |
isolated CHD: TGA |
|
C0303
|
CNV |
PTPRN2, MIR5707, NCAPG2, ESYT2 |
chr7: g.158331982_158611448dup |
isolated CHD: TGA |
|
C0304
|
CNV |
ACAD10, ALDH2, MIR6761, MAPKAPK5-AS1, MPKAPK5 |
chr12: g.112182542_112308929dup |
isolated CHD: TGA |
|
C0305
|
CNV |
CHRNB3 |
chr8: g.42583985_42587697dup |
isolated CHD: TGA |
|
C0306
|
CNV |
LOC339593, LINC00687, BTBD3, RP5-1069C8.2, LOC102606466,
LOC100505515, SPTLC3, ISM1, ISM1-AS1, TASP1, ESF1, NDUFAF5, SEL1L2,
MACROD2, FLRT3, MACROD2-IT1,
MACROD2-AS1, KIF16B, SNRPB2, OTOR,
PCSK2, BFSP1, DSTN, RRBP1, BANF2,
SNX5, SNORD17, MGME1, OVOL2,
CSRP2BP, ZNF133, LINC00851, DZANK1,
POLR3F, MIR3192, RBBP9, SEC23B,
LINC00493, DTD1, RP11-379J5.5,
LINC00652, LOC100270804, C20orf78,
SCP2D1, SLC24A3, RP5-1027G4.3, RIN2,
NAA20, CRNKL1, C20orf26, INSM1,
RALGAPA2, KIZ, RP4-777D9.2, XRN2,
NKX2-4, NKX2-2, LOC101929625,
LOC1019608, PAX1, RP11-125P18.1, RP5-
828K20.2, RP5-1004I9.1, LINC00261,
FOXA2, RP4-788L20.3, SSTR4, THBD,
CD93, LINC00656, NXT1, RP3-322G13.5,
GZF1, NAPB, CSTL1, CST11, CST8,
CST13P, CST9L, CST9, CST3, CST4,
CST1, CST2, CST5, GGTLC1, FLJ33581,
SYNDIG1, CST7, APMAP, ACSS1, VSX1,
RP4-738P15.1, LOC101926889, ENTPD6,
PYGB, ABHD12, GINS1, NINL, NANP,
ZNF337, FAM182B, LOC101926935 |
chr20: g.11247299_25834671dup |
isolated CHD: TOF |
|
C0307
|
CNV |
CDK13 |
chr7: g.40027276_40136317dup |
isolated CHD: CoA |
|
C0308
|
CNV |
STARD3, TCAP, PNMT, PGAP3, ERBB2,
MIR4728, MIEN1, GRB7, IKZF3, ZPBP2 |
chr17: g.37813254_38033098dup |
isolated CHD: TOF |
|
C0309
|
CNV |
ASIC2, AA06, RP11-215E13.1, CCL2, CCL7 |
chr17: g.31856936_32598195del |
isolated CHD: TOF |
|
C0310
|
CNV |
EIF3B |
chr7: g.2400442_2420409del |
isolated CHD: TOF |
|
C0311
|
CNV |
LOC653486SCGB1C1, ODF3, BETIL1,
RIC8A, MIR6743, SIRT3, PSMD13, NLRP6,
ATHL1, IFITM5, IFITM2, IFITM1, IFITM3 |
chr11: g.193816_320936del |
isolated CHD: TOF |
|
C0312
|
CNV |
UGP2, VPS54, PELI1, LINC00309 |
chr2: g.64107729_64565531dup |
isolated CHD: TOF |
|
C0313
|
CNV |
SFXN5, RAB11FIP5 |
chr2: g.73285631_73342384del |
isolated CHD: TOF |
|
C0314
|
CNV |
PVT1 |
chr8: g.129108394_129111273del |
isolated CHD: TOF |
|
C0315
|
CNV |
GUCA1C, MORC1, FLJ22763, LINC00488 |
chr3: g.108626684_108903856dup |
isolated CHD: TOF |
|
C0316
|
CNV |
ENPP2, TAF2, DSCC1, DEPTOR,
COL14A1 |
chr8: g.120628587_121180428dup |
isolated CHD: TOF |
|
C0317
|
CNV |
TENM1 |
chrX: g.123509834_123871097dup |
isolated CHD: TOF |
|
C0318
|
CNV |
NUP160, PTPRJ, OR4B1, OR4X2, OR4X1, OR4S1, OR4C3 |
chr11: g.47870014_48347382dup |
isolated CHD: CoA |
|
C0319
|
CNV |
CSTF3-AS1, HIPK3 |
chr11: g.33191299_33378450dup |
isolated CHD: TOF |
|
C0320
|
CNV |
AC073283.4, EPCAM, MIR559, MSH2,
KCNK12 |
chr2: g.47537252_47936201dup |
isolated CHD: TOF |
|
C0321
|
CNV |
NCKAP5, MIR3679, MGAT5, TMEM163,
ACMSD, CCNT2-AS1, CCNT2, MAP3K19,
RAB3GAP1, ZRANB3, R3HDM1, MIR128-
1, UBXN4, LCT, LOC100507600, MCM6,
DARS, AC093391.2, CXCR4, THSD7B,
HNMT, SPOPL, NXPH2, YY1P2, LRP1B |
chr2: g.134275082_142237969del |
isolated CHD: TOF |
|
C0322
|
CNV |
NASP |
chr1: g.46072235_46084595dup |
isolated CHD: TOF |
|
C0323
|
CNV |
RAD18, SRGAP3 |
chr3: g.8919991_9052040dup |
isolated CHD: TOF |
|
C0324
|
CNV |
PKD1L2, BCMO1 |
chr16: g.81134814_81346534del |
isolated CHD: TOF |
|
C0325
|
CNV |
MCM3AP, YBEY, C21orf58, PCNT |
chr21: g.47690060_47855837dup |
isolated CHD: TOF |
|
C0326
|
CNV |
NBPF20, NBPF10, PDZK1, GPR89A,
NBPF25P, GPR89C, PDZK1P, NBPF11,
NBPF12, LOC728989, NBPF13P, PRKAB2,
PDIA3P1, FMO5, CHD1L, LINC00624,
BCL9, ACP6, GJA5, GJA8, GPR89B,
PDZK1P1, NBPF8, NBPF11, MIR5087 |
chr1: g.145761268_147851297dup |
isolated CHD: TOF |
|
C0327
|
CNV |
BIRC6, TTC27, MIR4765, LINC00486 |
chr2: g.32815822_33050595dup |
isolated CHD: TOF |
|
C0328
|
CNV |
LINC00320, NCAM2, RNU6-67P,
LINC00317, AP000475.2, LINC00308 |
chr21: g.22115159_23685731del |
isolated CHD: TOF |
|
C0329
|
CNV |
NFATC3, ESRP2, MIR6773, PLA2G15 |
chr16: g.68170552_68294429dup |
isolated CHD: CoA |
|
C0330
|
CNV |
CGNL1 |
chr15: g.57689066_57753951dup |
isolated CHD: TOF |
|
C0331
|
CNV |
ART3, NUP54, SCARB2 |
chr4: g.77033621_77102255dup |
isolated CHD: TOF |
|
C0332
|
CNV |
APBA2, FAM189A1, NDNL2, TJP1 |
chr15: g.29212452_30226246dup |
isolated CHD: TOF |
|
C0333
|
CNV |
PTPRJ |
chr11: g.47993091_48092687del |
isolated CHD: TOF |
|
C0334
|
CNV |
RPRD2, TARS2, MIR6878, ECM1,
LINC00568, ADAMTSL4, MIR4257,
ADAMSTL4-AS1, MCL1, ENSA, GOLPH3L,
HORMAD1, CTSS, CTSK |
chr1: g.150413398_150772229dup |
isolated CHD: TOF |
|
C0335
|
CNV |
DSG1, RP11-534N16.1, DSG4, DSG3 |
chr18: g.28937235_29049359dup |
isolated CHD: TOF |
|
C0336
|
CNV |
PRPF4B, FAM217A, C6orf201, ECI2, RP3-
400B16.1, CDYL, RPP40 |
chr6: g.3983732_5004202del |
isolated CHD: TGA |
|
C0337
|
CNV |
MGAM |
chr7: g.141705389_141740593del |
isolated CHD: CoA |
|
C0338
|
CNV |
SDC1, PUM2 |
chr2: g.20403619_20451508dup |
isolated CHD: CoA |
|
C0339
|
CNV |
FAM73A, NEXN-AS1, NEXN |
chr1: g.78308983_78384008dup |
isolated CHD: CoA |
|
C0340
|
CNV |
LPHN2 |
chr1: g.80004803_82604803dup |
isolated CHD: TGA |
|
C0341
|
CNV |
C16orf52, CDR2, EEF2K, NPIPB5, OTOA, PDZD9, POLR3E, UQCRC2, VWA3A |
chr16: g.21761466_921761466dup |
isolated CHD: TGA |
|
C0342
|
CNV |
CXorf23, MAP7D2, SH3KBP1 |
chrX: g.19551017_579551017dup |
isolated CHD: TGA |
|
C0343
|
CNV |
RERE |
chr1: g.8690903_8711903del |
isolated CHD: D-TGA |
|
C0344
|
CNV |
SLC8A1 |
chr2: g.40629779_40644779del |
isolated CHD: ccTGA |
|
C0345
|
CNV |
CCDC141 |
chr2: g.179853465_179884465del |
isolated CHD: ccTGA |
|
C0346
|
CNV |
IFT57 |
chr3: g.107881033_107895033del |
isolated CHD: D-TGA |
|
C0347
|
CNV |
LPP |
chr3: g.187864221_188002221dup |
isolated CHD: D-TGA |
|
C0348
|
CNV |
LPP |
chr3: g.188128486_188337486del |
isolated CHD: D-TGA |
|
C0349
|
CNV |
RB1CC1 |
chr8: g.53593437_53791437dup |
isolated CHD: D-TGA |
|
C0350
|
CNV |
NKX1-2, OAT |
chr10: g.126100523_126163523del |
isolated CHD: ccTGA |
|
C0351
|
CNV |
IQCJ-SCHIP1, SCHIP1 |
chr3: g.158993239_159493239dup |
isolated CHD: TGA |
|
C0352
|
CNV |
NHS |
chrX: g.17595322_17616322del |
isolated CHD: D-TGA |
|
C0353
|
CNV |
ACKR3 |
chr2: g.237384710_237708710dup |
isolated CHD: D-TGA |
|
C0354
|
CNV |
ITGB8 |
chr7: g.20272750_20392750dup |
isolated CHD: D-TGA |
|
C0355
|
CNV |
NF1 |
chr17: g.29382294_29440294dup |
isolated CHD: D-TGA |
|
C0356
|
CNV |
SOX18 |
chr20: g.62676009_62884009dup |
isolated CHD: D-TGA |
|
C0357
|
CNV |
NA |
chr4: g.130781712_132381712del |
isolated CHD: TGA |
|
C0358
|
CNV |
MAGI2 |
chr7: g.78703768_578703768del |
isolated CHD: TGA |
|
C0359
|
CNV |
SGCZ |
chr8: g.14536773_15226773dup |
isolated CHD: TGA |
|
C0360
|
CNV |
DDX51, EP400, GALNT9, MMP17, PUS1, NOC4L, SFSWAP, ULK1 |
chr12: g.132240196_145240196dup |
isolated CHD: TGA |
|
C0361
|
CNV |
KL, STARD13 |
chr13: g.33376884_933376884del |
isolated CHD: TGA |
|
C0362
|
CNV |
RBFOX1 |
chr16: g.5699774_705699774dup |
isolated CHD: TGA |
|
C0363
|
CNV |
ABCC1, ABCC6, C16orf45, FOPNL, KIAA0430, MPV17L, MYH11,NDE1, NOMO3, NPIPA5, XYLT1 |
chr16: g.15358459_18158459del |
isolated CHD: TGA |
|
C0364
|
CNV |
NA |
chr7: g.4102511_4867717dup |
isolated CHD: NA |
|
C0365
|
CNV |
NA |
chr22: g.21024486_21441861del |
isolated CHD: NA |
|
C0366
|
CNV |
NA |
chr3: g.95067163_95989113dup |
isolated CHD: NA |
|
C0367
|
CNV |
NA |
chr10: g.2682656_3123648dup |
isolated CHD: NA |
|
C0368
|
CNV |
NA |
chr1: g.239320770_240023059dup |
isolated CHD: NA |
|
C0369
|
CNV |
NA |
chr12: g.33415349_34669982dup |
isolated CHD: NA |
|
C0370
|
CNV |
NA |
chr22: g.21024486_21554058del |
isolated CHD: NA |
|
C0371
|
CNV |
NA |
chr13: g.102725899_103348161dup |
isolated CHD: NA |
|
C0372
|
CNV |
NA |
chr22: g.17257787_19790220del |
isolated CHD: NA |
|
C0373
|
CNV |
NA |
chr15: g.20306549_20778963del |
isolated CHD: NA |
|
C0374
|
CNV |
NA |
chr22: g.20885078_21401228del |
isolated CHD: NA |
|
C0375
|
CNV |
NA |
chr18: g.13417800_15112502dup |
isolated CHD: NA |
|
C0376
|
CNV |
NA |
chr22: g.17257787_18686993del |
isolated CHD: NA |
|
C0377
|
CNV |
NA |
chr8: g.11620338_11935618dup |
isolated CHD: NA |
|
C0378
|
CNV |
NA |
chr2: g.111303487_111617069dup |
isolated CHD: NA |
|
C0379
|
CNV |
NA |
chr9: g.194201_589666dup |
isolated CHD: NA |
|
C0380
|
CNV |
NA |
chr22: g.21100917_21554058del |
isolated CHD: NA |
|
C0381
|
CNV |
NA |
chr6: g.65228140_66383666del |
isolated CHD: NA |
|
C0382
|
CNV |
NA |
chr16: g.15032942_16197033del |
isolated CHD: NA |
|
C0383
|
CNV |
NA |
chr7: g.158059922_158621330dup |
isolated CHD: NA |
|
C0384
|
CNV |
NA |
chr7: g.57212608_57593745dup |
isolated CHD: NA |
|
C0385
|
CNV |
NA |
chr16: g.21892987_22331199dup |
isolated CHD: NA |
|
C0386
|
CNV |
NA |
chr22: g.21122400_21554058del |
isolated CHD: NA |
|
C0387
|
CNV |
NA |
chr15: g.20306549_20685684del |
isolated CHD: NA |
|
C0388
|
CNV |
NA |
chr22: g.17257787_19729278del |
isolated CHD: NA |
|
C0389
|
CNV |
NA |
chr22: g.21024486_21554058del |
isolated CHD: NA |
|
C0390
|
CNV |
NA |
chr22: g.20784580_21330892del |
isolated CHD: NA |
|
C0391
|
CNV |
NA |
chr22: g.21100917_21554058del |
isolated CHD: NA |
|
C0392
|
CNV |
NA |
chr22: g.17257787_19792353dup |
isolated CHD: NA |
|
C0393
|
CNV |
NA |
chr1: g.244544759_244871447dup |
isolated CHD: NA |
|
C0394
|
CNV |
NA |
chr3: g.11622173_11958591dup |
isolated CHD: NA |
|
C0395
|
CNV |
NA |
chr22: g.21328337_21979242del |
isolated CHD: NA |
|
C0396
|
CNV |
NA |
chr22: g.21046568_21401228del |
isolated CHD: NA |
|
C0397
|
CNV |
NA |
chr22: g.21011312_21554058del |
isolated CHD: NA |
|
C0398
|
CNV |
NA |
chr6: g.162521711_162900893dup |
isolated CHD: NA |
|
C0399
|
CNV |
NA |
chr12: g.24803300_25155526dup |
isolated CHD: NA |
|
C0400
|
CNV |
NA |
chr15: g.20306549_20685684dup |
isolated CHD: NA |
|
C0401
|
CNV |
NA |
chr22: g.21328337_21979242del |
isolated CHD: NA |
|
C0402
|
CNV |
NA |
chr22: g.17257787_19792353dup |
isolated CHD: NA |
|
C0403
|
CNV |
NA |
chr22: g.19066315_19792353dup |
isolated CHD: NA |
|
C0404
|
CNV |
NA |
chr3: g.1394026_1975594dup |
isolated CHD: NA |
|
C0405
|
CNV |
NA |
chr12: g.33415349_34565140dup |
isolated CHD: NA |
|
C0406
|
CNV |
NA |
chr9: g.4117491_4537288dup |
isolated CHD: NA |
|
C0407
|
CNV |
NA |
chr3: g.832325_1403635dup |
isolated CHD: NA |
|
C0408
|
CNV |
NA |
chr7: g.143056311_143505123dup |
isolated CHD: NA |
|
C0409
|
CNV |
NA |
chr9: g.36587_360439del |
isolated CHD: NA |
|
C0410
|
CNV |
NA |
chr3: g.133579573_133940085del |
isolated CHD: NA |
|
C0411
|
CNV |
NA |
chr16: g.15032942_16197033dup |
isolated CHD: NA |
|
C0412
|
CNV |
NA |
chr10: g.133136594_133608348dup |
isolated CHD: NA |
|
C0413
|
CNV |
NA |
chr10: g.46410734_47173619dup |
isolated CHD: NA |
|
C0414
|
CNV |
NA |
chr22: g.17257787_19726528del |
isolated CHD: NA |
|
C0415
|
CNV |
NA |
chr22: g.17257787_19792353del |
isolated CHD: NA |
|
C0416
|
CNV |
NA |
chr15: g.20306549_20685685del |
isolated CHD: NA |
|
C0417
|
CNV |
NA |
NA |
isolated CHD: NA |
|
C0418
|
CNV |
BMP5 |
chr6: g.55823840_55949133dup |
isolated CHD: VSD |
|
C0419
|
CNV |
MYH11, NDE1 |
chr16: g.15406764_16170797dup |
isolated CHD: VSD |
|
C0420
|
CNV |
ATP2C2, WFDC1 |
chr16: g.16574972_28505961del |
isolated CHD: VSD |
|
C0421
|
CNV |
ACOX3, C4orf23, HTRA3, SH3TC1 |
chr4: g.8270586_8498212del |
non-isolated CHD: VSD, ASD |
|
C0422
|
CNV |
CACNG3, CHP2, PLK1, PRKCB, XYLT1 |
chr16: g.16574972_28505961dup |
non-isolated CHD: VSD, ASD |
|
C0423
|
CNV |
XKRX |
chrX: g.100039582_100068017dup |
non-isolated CHD: VSD, ASD, PDA, PAH |
|
C0424
|
CNV |
NBEA |
chr13: g.35777130_35835221dup |
non-isolated CHD: VSD, PDA, PFO |
|
C0425
|
CNV |
MAGEC1, MAGEC2, MAGEC3 |
chrX: g.140727218_141583235dup |
non-isolated CHD: VSD, PDA, PFO |
|
C0426
|
CNV |
KIF16B |
chr20: g.16574972_28505961dup |
isolated CHD: VSD |
|
C0427
|
CNV |
OCA2 |
chr15: g.25833244_25871572del |
isolated CHD: VSD |
|
C0428
|
CNV |
MCTP2 |
chr15: g.92616792_92673355del |
isolated CHD: VSD |
|
C0429
|
CNV |
XRCC5 |
chr2: g.216757058_216797948dup |
isolated CHD: VSD |
|
C0430
|
CNV |
AOAH |
chr7: g.36657642_36756092dup |
isolated CHD: VSD |
|
C0431
|
CNV |
C14orf184, CATSPERB |
chr14: g.91069401_91230897dup |
isolated CHD: VSD |
|
C0432
|
CNV |
RGS21 |
chr1: g.190543305_190707353dup |
isolated CHD: VSD |
|
C0433
|
CNV |
EN1 |
chr2: g.119275149_119375870dup |
non-isolated CHD: VSD, PFO, PAH |
|
C0434
|
CNV |
CALN1 |
chr7: g.70953860_71032938del |
isolated CHD: VSD |
|
C0435
|
CNV |
FRMD3, RASEF |
chr9: g.84859691_85387778del |
non-isolated CHD: ASD, PS |
|
C0436
|
CNV |
AASS, CADPS2, FEZF1, PTPRZ1 |
chr7: g.121449591_122397323dup |
isolated CHD: VSD |
|
C0437
|
CNV |
FAM3B, MX2, MX1 |
chr21: g.41639464_41733339dup |
isolated CHD: VSD |
|
C0438
|
CNV |
EGFL6 |
chrX: g.13472898_13530787del |
non-isolated CHD: VSD, PDA, ASD, PFO |
|
C0439
|
CNV |
IGFBP7, LOC255130 |
chr4: g.57627423_57940932dup |
isolated CHD: VSD |
|
C0440
|
CNV |
COG8, CYB5B, NIP7, PDF, SNTB2, TERF2, TMED6, VPS4A |
chr16: g.67868480_68086257del |
isolated CHD: TGA |
|
C0441
|
CNV |
LBX1 |
chr10: g.102953588_103040185dup |
isolated CHD: VSD |
|
C0442
|
CNV |
TBC1D23 |
chr3: g.101403767_101519268dup |
isolated CHD: VSD |
|
C0443
|
CNV |
GOLGA4, C3ORF35, ITGA9 |
chr3: g.37377757_37577933dup |
isolated CHD: ASD |
|
C0444
|
CNV |
SOX2, MAP3K13, BCL6, TP63, FGF12 |
chr3: g.180469228_198475603dup |
isolated CHD: ASD |
|
C0445
|
CNV |
CASP3, ING2, PDLIM3, SLC25A4, F11 |
chr4: g.181026511_190784769del |
isolated CHD: ASD |
|
C0446
|
CNV |
PAX3 |
chr2: g.222835872_223511548dup |
isolated CHD: VSD |
|
C0447
|
CNV |
KIAA2022, ABCB7 |
chrX: g.73900661_74462483dup |
isolated CHD: VSD |
|
C0448
|
CNV |
CYSLTR1, GPR174, LPAR4, P2RY10 |
chrX: g.77425233_78428001del |
isolated CHD: VSD |
|
C0449
|
CNV |
CTD-(2272D18.1), RP11-(653B10.1), RP11-(731N10.1) |
chr8: g.83573868_83964230dup |
isolated CHD: EA |
|
C0450
|
CNV |
MYOZ2, RP11-455G16.1, USP53 |
chr4: g.120028773_120162705dup |
isolated CHD: EA |
|
C0451
|
CNV |
CYP4V2, F11, FAM149A, KLKB1 |
chr4: g.187078181_187190810dup |
isolated CHD: EA |
|
C0452
|
CNV |
CTC-(551A13.2), WDR36 |
chr5: g.110417428_110444810dup |
isolated CHD: EA |
|
C0453
|
CNV |
SLC35F1 |
chr6: g.118039508_118237605dup |
isolated CHD: EA |
|
C0454
|
CNV |
RP11(307P5.1), RP11(307P5.2) |
chr6: g.148005232_148138720dup |
isolated CHD: EA |
|
C0455
|
CNV |
CTD-(2272D18.1), RP11-(731N10.1) |
chr8: g.83848688_83981829dup |
isolated CHD: EA |
|
C0456
|
CNV |
SPIDR |
chr8: g.48170319_48204412dup |
isolated CHD: EA |
|
C0457
|
CNV |
CALHM1, CALHM2, PDCD11, RP11-(225H22.4), RP11(225H22.7) |
chr10: g.105157553_105215741dup |
isolated CHD: EA |
|
C0458
|
CNV |
SORCS1 |
chr10: g.108765792_108793878dup |
isolated CHD: EA |
|
C0459
|
CNV |
AP000439.1, AP000439.2, AP000439.3, AP000439.5 |
chr11: g.69239611_69434379dup |
isolated CHD: EA |
|
C0460
|
CNV |
C2CD5, RP11(359J14.2) |
chr12: g.22608226_22649460dup |
isolated CHD: EA |
|
C0461
|
CNV |
DIP2B |
chr12: g.50893815_50995674dup |
isolated CHD: EA |
|
C0462
|
CNV |
NA |
chr13: g.67843475_67900578dup |
isolated CHD: EA |
|
C0463
|
CNV |
KIF17 |
chr1: g.21002613_21037639dup |
isolated CHD: EA |
|
C0464
|
CNV |
LMO7, RP11(29G8.3) |
chr13: g.76247612_76281850dup |
isolated CHD: EA |
|
C0465
|
CNV |
C16orf72, RP11(473I1.10), RP11(473I1.5), RP11(473I1.6), RP11
(473I1.9); RP11(77H9.8); USP7 |
chr16: g.9041214_9295696dup |
isolated CHD: EA |
|
C0466
|
CNV |
RP11(309M23.1) |
chrX: g.902677_1262175dup |
isolated CHD: EA |
|
C0467
|
CNV |
DUSP21, FUNDC1, KDM6A, RN7SL291P, RNU6-523P |
chrX: g.44381642_44872791dup |
isolated CHD: EA |
|
C0468
|
CNV |
NA |
chrX: g.61726006_62027422del |
isolated CHD: EA |
|
C0469
|
CNV |
ARTN, IPO13, RP11-(G19617O11.3), ST3GAL3 |
NA |
isolated CHD: EA |
|
C0470
|
CNV |
CCDC17, GPBP1L1, NASP |
NA |
isolated CHD: EA |
|
C0471
|
CNV |
LCLAT1 |
NA |
isolated CHD: EA |
|
C0472
|
CNV |
BMPR2, CARF, FAM117B, ICA1L, NOP58, RN7SL40P, RN7SL753P
RP11-686O6.1;RP11-686O6.2;WDR12 |
NA |
isolated CHD: EA |
|
C0473
|
CNV |
PRODH, DGCR2, TSSK2, SLC25A1, CLTCL1, HIRA, UFD1L, CLDN5, SEPT5, GP1BB, TBX1, GNB1L, TXNRD2, COMT, ARVCF, DGCR8, TRMT2A, ZDHHC8, RTN4R, DGCR6L, RIMBP3, ZNF74, PI4KA, SERPIND1, SNAP29, CRKL, LZTR1, SLC7A4, DGCR5, DGCR9, DGCR10, DGCR11, DGCR14, GSC2, MRPL40, C22orf39, CDC45, LOC150185, SEPT5-GP1BB, C22orf29, C22orf25, MIR185, MIR3618, MIR1306, RANBP1, LOC150197,MIR1286, PI4KAP1, SCARF2, KLHL22, MED15, POM121L4P, TMEM191A, AIFM3, THAP7, FLJ39582,
MGC16703, P2RX6, P2RX6P, LOC400891 |
NA |
non-isolated CHD: TOF, PFO, RAA |
|
C0474
|
CNV |
TBC1D3B, CCL3L1, CCL4L2, TBC1D3C, TBC1D3H, TBC1D3G, PIGW, GGNBP2, LHX1, AATF, ACACA, DUSP14, DDX52, HNF1B, CCL3L3, CCL4L1, ZNHIT3,MYO19, DHRS11, MRM1, MIR2909, C17orf78,TADA2A, SYNRG |
NA |
non-isolated CHD: TOF, PFO, DAA |
|
C0475
|
CNV |
NOC2L, HES4, ISG15, AGRN, MIR200B, MIR200A, MIR429, TNFRSF18, TNFRSF4, SCNN1D, TAS1R3, DVL1,
MRPL20, VWA1, ATAD3B, ATAD3A, MMP23B, MMP23A, NADK, GNB1, CALML6, GABRD, PRKCZ, SKI, PEX10,
PLCH2, PANK4, HES5, TNFRSF14, ACTRT2, PRDM16, MEGF6, WDR8, TP73, DFFB, AJAP1, NPHP4, KCNAB2,
CHD5, RPL22, ICMT, HES3, ACOT7, HES2, ESPN, TNFRSF25, PLEKHG5, TAS1R1, FLJ39609, SAMD11, KLHL17,
PLEKHN1, Clorf170, LOC401934, Clorf159, TTLL10, SDF4, B3GALT6, FAM132A, UBE2J2, ACAP3, PUSL1,
CPSF3L, GLTPD1, MXRA8, AURKAIP1, CCNL2, LOC148413, LOC441869, TMEM88B, ATAD3C, Clorf70, SSU72,
MIB2, CDK11B, SLC35E2B, CDK11A, SLC35E2, TMEM52, KIAA1751, Clorf86, LOC100128003, MORN1,LOC100129534, RER1, LOC115110, LOC100133445, Clorf93, MMEL1, FLJ42875, MIR4251, ARHGEF16,
MIR551A, TPRG1L, KIAA0495, CCDC27, LOC388588, LRRC47, KIAA0562, Clorf174, LOC100133612,
LOC284661, RNF207, GPR153, MIR4252, NOL9, ZBTB48 |
NA |
non-isolated CHD: TOF, DORV, PDA, PFO |
|
C0476
|
CNV |
AEBP2; SYNE2, ESR2, TEX21P, MTHFD1 |
NA |
non-isolated CHD: TOF, ASD |
|
C0477
|
CNV |
NA |
NA |
non-isolated CHD: TOF, ASD |
|
C0478
|
CNV |
FMO5, CHD1L, BCL9, GJA5, GJA8, GPR89B, LOC728989, PRKAB2, PDIA3P, ACP6, GPR89C,
PDZK1P1, NBPF11, NBPF24 |
NA |
non-isolated CHD: TOF, PFO |
|
C0479
|
CNV |
PRODH, DGCR2, TSSK2, SLC25A1, CLTCL1, HIRA, UFD1L, CLDN5, SEPT5, GP1BB, TBX1, GNB1L, TXNRD2, COMT, ARVCF, DGCR8, TRMT2A, ZDHHC8, RTN4R, DGCR6L, RIMBP3, ZNF74, PI4KA, SERPIND1, SNAP29, CRKL, LZTR1, SLC7A4, DGCR5, DGCR9, DGCR10, DGCR11, DGCR14, GSC2, MRPL40, C22orf39, CDC45, LOC150185, SEPT5-GP1BB, C22orf29, C22orf25, MIR185, MIR3618, MIR1306, RANBP1, LOC150197,MIR1286, PI4KAP1, SCARF2, KLHL22, MED15, POM121L4P, TMEM191A, AIFM3, THAP7, FLJ39582,
MGC16703, P2RX6, P2RX6P, LOC400891 |
NA |
non-isolated CHD: TOF, PFO, congenital pericardial defect |
|
C0480
|
CNV |
RHOU |
NA |
non-isolated CHD: TOF, PFO |
|
C0481
|
CNV |
SHCBP1, VPS35, ORC6, MYLK3, ANKRD26P1 |
NA |
non-isolated CHD: TOF, PFO |
|
C0482
|
CNV |
FOXF1, FOXC2, FOXL1, LOC400550, MTHFSD, FLJ30679 |
NA |
non-isolated CHD: TOF, PFO |
|
C0483
|
CNV |
NA |
NA |
non-isolated CHD: TOF, PLSVC |
|
C0484
|
CNV |
PRODH, DGCR2, TSSK2, SLC25A1, CLTCL1, HIRA, UFD1L, CLDN5, SEPT5, GP1BB, TBX1, GNB1L, TXNRD2, COMT, ARVCF, DGCR8, TRMT2A, ZDHHC8, RTN4R, DGCR6L, RIMBP3, ZNF74, PI4KA, SERPIND1, SNAP29, CRKL, LZTR1, SLC7A4, DGCR5, DGCR9, DGCR10, DGCR11, DGCR14, GSC2, MRPL40, C22orf39, CDC45, LOC150185, SEPT5-GP1BB, C22orf29, C22orf25, MIR185, MIR3618, MIR1306, RANBP1, LOC150197,MIR1286, PI4KAP1, SCARF2, KLHL22, MED15, POM121L4P, TMEM191A, AIFM3, THAP7, FLJ39582,
MGC16703, P2RX6, P2RX6P, LOC400891 |
NA |
isolated CHD: TOF |
|
C0485
|
CNV |
NA |
chr8: g.186477_2909002del |
isolated CHD: RLBV |
|
C0486
|
CNV |
NA |
chr8: g.2441865_13981255dup |
isolated CHD: RLBV |
|
C0487
|
CNV |
GJA5 |
chr1: g.145594226_145848226dup |
isolated CHD: TOF |
|
C0488
|
CNV |
GJA5 |
chr1: g.145658466_145776466dup |
isolated CHD: TOF |
|
C0489
|
CNV |
GJA5 |
chr1: g.145594226_145848226dup |
isolated CHD: TOF |
|
C0490
|
CNV |
PRKD1,ATG5, AIM1, RTN4IP1,
QRSL1, C6orf203, BEND3 and PDSS2 |
chr6: g.106082956_107737955del |
non-isolated CHD: VSD, OA |
|
C0491
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: TOF |
|
C0492
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: PA/VSD |
|
C0493
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: PTA |
|
C0494
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: DORV |
|
C0495
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: TGA |
|
C0496
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: TA |
|
C0497
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: IAA |
|
C0498
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: SA/SV |
|
C0499
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: ASD |
|
C0500
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: TAPVC |
|
C0501
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: PAPVC |
|
C0502
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: SAS |
|
C0503
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: CoA |
|
C0504
|
CNV |
NA |
chr22: g.0_0del |
isolated CHD: other |
|
C0505
|
CNV |
N/A |
chr1: g.180143425_180257907dup |
isolated CHD: TGA |
|
C0506
|
CNV |
N/A |
chr4: g.102831284_103033486del |
isolated CHD: TA |
|
C0507
|
CNV |
N/A |
chr4: g.146444570_146930543dup |
isolated CHD: Shone's Complex |
|
C0508
|
CNV |
ITGB1, NRP1, PARD3 |
chr10: g.32686908_34498716del |
isolated CHD: TOF |
|
C0509
|
CNV |
ITGB1, NRP1, PARD3 |
chr10: g.32686908_34498716del |
isolated CHD: TOF |
|
C0510
|
CNV |
REPS2, NHS, MIR4768 |
chrXp22.2-p22.13: g.16985921_17729022dup |
isolated CHD: LC-RV fistula |
|
C0511
|
CNV |
HDHD1, STS, VCX,
PNPLA4,MIR4767 |
chrX: p22.31: g.6460521_8053641del |
isolated CHD: VSD |
|
C0512
|
CNV |
N/A |
NA |
isolated CHD: TAPVC |
|
C0513
|
CNV |
PRY, BPY2, DAZ1, DAZ2, CDY1B, LOC100996911, BPY2B, DAZ3, DAZ4, BPY2C, LOC101929235, LOC107987351, CDY1 |
chrY: g.24985261_28438826dup |
non-isolated CHD: TOF, ASD |
|
C0514
|
CNV |
FTO, RPGRIP1L |
chr16: g.53730151_53963891del |
non-isolated CHD: VSD, CoA |
|
C0515
|
CNV |
MAN2A1, TMEM232, SLC25A46
TSLP WDR36 CAMK4 FAXC PNISR |
chr5: g.109071623_110627810dup |
non-isolated CHD: DORV, VSD |
|
C0516
|
CNV |
USP45, CCNC, DM13, COQ3 |
chr6: g.99659801_100270433del |
non-isolated CHD: DORV, VSD |
|
C0517
|
CNV |
NBPF8,NBPF14,NBPF15,NBPF9,PPIAL4D |
chr1: g.148016135_148575302del |
non-isolated CHD: CoA, VSD |
|
C0518
|
CNV |
GABRG2 |
chr5: g.161536927_161681285dup |
non-isolated CHD: TOF, ASD |
|
C0519
|
CNV |
IGHE,IGHG1,IGHD,ADAM6,ELK2AP,FAM30A |
chr14: g.106072250_107152784dup |
isolated CHD: MI, TI |
|
C0520
|
CNV |
N/A |
chr8: g.0_0del |
isolated CHD: ASD |
|
C0521
|
CNV |
N/A |
chr8: g.0_0del |
isolated CHD: ASD |
|
C0522
|
CNV |
N/A |
chr0: g.0_0del |
isolated CHD: Valvular AS |
|
C0523
|
CNV |
N/A |
chr0: g.0_0del |
isolated CHD: SVAS |
|
C0524
|
CNV |
N/A |
chr0: g.0_0del |
isolated CHD: SVAS |
|
C0525
|
CNV |
N/A |
chr0: g.0_0del |
isolated CHD: SVAS |
|
C0526
|
CNV |
N/A |
chr0: g.0_0del |
non-isolated CHD: SVAS, PPS |
|
C0527
|
CNV |
N/A |
chr0: g.0_0del |
non-isolated CHD: SVAS, PPS |
|
C0528
|
CNV |
N/A |
chr0: g.0_0del |
non-isolated CHD: SVAS, PPS |
|
C0529
|
CNV |
N/A |
chr0: g.0_0del |
isolated CHD: SVAS |
|
C0530
|
CNV |
N/A |
chr0: g.0_0del |
isolated CHD: SVAS |
|
C0531
|
CNV |
N/A |
chr0: g.0_0del |
isolated CHD: SVAS |
|
C0532
|
CNV |
NBPF15, NBPF16, PPIAL4E, PPIAL4D, PPIAL4F, LOC645166, LOC388692, FCGR1C, HIST2H2BF, PPIAL4A, PPIAL4C, PPIAL4B, FAM91A2, LOC728855 |
GRCh37 chr1: g.148515220_149741175dup |
isolated CHD: TOF |
|
C0533
|
CNV |
NBPF15, NBPF16, PPIAL4E, PPIAL4D, PPIAL4F, LOC645166, LOC388692, FCGR1C, HIST2H2BF, PPIAL4A, PPIAL4C, PPIAL4B, FAM91A2, LOC728855 |
GRCh37 chr1: g.148515220_149741175dup |
non-isolated CHD: complex CHD |
|
C0534
|
CNV |
TSNAX-DISC1, DISC1 |
GRCh37 chr1: g.231828116_231928554del |
isolated CHD: ASD/VSD |
|
C0535
|
CNV |
NPHP1, LINC00116, LOC100507334, MIR4436B2, MIR4436B1, LOC151009, LOC440894, LOC440895, LOC100288570, LIMS3-LOC440895, LIMS3, LIMS3L, RGPD6, RGPD5 |
GRCh37 chr2: g.110874326_111369233dup |
isolated CHD: MVD/PVD/AVD/TVD |
|
C0536
|
CNV |
NPHP1, LINC00116, LOC100507334, MIR4436B2, MIR4436B1, LOC151009, LOC440894, LOC440895, LOC100288570, LIMS3-LOC440895, LIMS3, LIMS3L, RGPD6, RGPD5 |
GRCh37 chr2: g.110874326_111369233dup |
isolated CHD: TOF |
|
C0537
|
CNV |
CNTN4, CNTN4-AS2 |
GRCh37 chr3: g.1614980_2383336dup |
isolated CHD: ASD/VSD |
|
C0538
|
CNV |
DNAH5, TRIO |
GRCh37 chr5: g.13798818_14186638dup |
isolated CHD: MVD/PVD/AVD/TVD |
|
C0539
|
CNV |
NA |
GRCh37 chr7: g.72718277_74142190del |
isolated CHD: ASD/VSD |
|
C0540
|
CNV |
NSUN5, TRIM50, FKBP6, FZD9, BAZ1B, BCL7B, TBL2, MLXIPL, VPS37D, DNAJC30, WBSCR22, STX1A, MIR4284, ABHD11-AS1, ABHD11, CLDN3, CLDN4, WBSCR27, WBSCR28, ELN, LIMK1, EIF4H, MIR590, LAT2, RFC2, CLIP2, GTF2IRD1, GTF2I |
GRCh37 chr7: g.72718277_74142190del |
isolated CHD: MAD |
|
C0541
|
CNV |
FNTA, SGK196, HGSNAT, POTEA |
GRCh37 chr8: g.42935729_46923289dup |
isolated CHD: ASD/VSD |
|
C0542
|
CNV |
FNTA, SGK196, HGSNAT, POTEA |
GRCh37 chr8: g.42935729_46923289dup |
isolated CHD: MVD/PVD/AVD/TVD |
|
C0543
|
CNV |
C9orf66, DOCK8 |
GRCh37 chr9: g.203861_354913dup |
isolated CHD: ASD/VSD |
|
C0544
|
CNV |
LOC643650, LOC728643, ANXA8, ANXA8L1, FAM25B, FAM25G, FAM25C, AGAP9, BMS1P6, BMS1P2, FAM35B2, ANTXRL, ANXA8L2, FAM21B, CTSL1P2 |
GRCh37 chr10: g.47090537_48179757dup |
isolated CHD: ASD/VSD |
|
C0545
|
CNV |
CTNNA3 |
GRCh37 chr10: g.68186265_68317814del |
isolated CHD: ASD/VSD |
|
C0546
|
CNV |
ACER3, B3GNT6, CAPN5, OMP, MYO7A, GDPD4, PAK1 |
GRCh37 chr11: g.76674839_77045656dup |
isolated CHD: MVD/PVD/AVD/TVD |
|
C0547
|
CNV |
BICD1, FGD4 |
GRCh37 chr12: g.32177992_32701140dup |
isolated CHD: MAD |
|
C0548
|
CNV |
PUS1, EP400, SNORA49, EP400NL, DDX51, NOC4L |
GRCh37 chr12: g.132422717_132666263del |
isolated CHD: ASD/VSD |
|
C0549
|
CNV |
NA |
GRCh37 chr14: g.0_0del |
isolated CHD: ASD/VSD |
|
C0550
|
CNV |
TUBGCP5, CYFIP1, NIPA2, NIPA1, LOC283683, WHAMMP3 |
GRCh37 chr15: g.22770421_23191761del |
non-isolated CHD: complex CHD |
|
C0551
|
CNV |
CHRNA7 |
GRCh37 chr15: g.31975318_32400912dup |
isolated CHD: ASD/VSD |
|
C0552
|
CNV |
HERC2P4, LOC729264, LOC390705, TP53TG3B, TP53TG3, TP53TG3C, SLC6A10P, RNU6-76 |
GRCh37 chr16: g.32046521_33783272dup |
isolated CHD: MAD |
|
C0553
|
CNV |
HERC2P4, LOC729264, LOC390705, TP53TG3B, TP53TG3, TP53TG3C, SLC6A10P, RNU6-76 |
GRCh37 chr16: g.32046521_33783272dup |
isolated CHD: TOF |
|
C0554
|
CNV |
EIF3CL, EIF3C, CLN3, APOBR, IL27, NUPR1, CCDC101, SULT1A2, SULT1A1, ATXN2L, TUFM, MIR4721, SH2B1, ATP2A1, LOC100289092, RABEP2, CD19, NFATC2IP, MIR4517, SPNS1, LAT, RRN3P2, SNX29P2 |
GRCh37 chr16: g.28371467_29351826del |
isolated CHD: ASD/VSD |
|
C0555
|
CNV |
EIF3CL, EIF3C, CLN3, APOBR, IL27, NUPR1, CCDC101, SULT1A2, SULT1A1, ATXN2L, TUFM, MIR4721, SH2B1, ATP2A1, LOC100289092, RABEP2, CD19, NFATC2IP, MIR4517, SPNS1, LAT, RRN3P2, SNX29P2 |
GRCh37 chr16: g.28371467_29351826del |
isolated CHD: MAD |
|
C0556
|
CNV |
EIF3CL, EIF3C, CLN3, APOBR, IL27, NUPR1, CCDC101, SULT1A2, SULT1A1, ATXN2L, TUFM, MIR4721, SH2B1, ATP2A1, LOC100289092, RABEP2, CD19, NFATC2IP, MIR4517, SPNS1, LAT, RRN3P2, SNX29P2 |
GRCh37 chr16: g.28371467_29351826del |
isolated CHD: TOF |
|
C0557
|
CNV |
LMF1, SOX8, LOC146336, SSTR5, C1QTNF8, CACNA1H, TPSG1, TPSB2, TPSAB1, TPSD1, UBE2I, BAIAP3, TSR3, GNPTG, UNKL, C16orf91, CCDC154, CLCN7 |
GRCh37 chr16: g.992090_1498731dup |
isolated CHD: MVD/PVD/AVD/TVD |
|
C0558
|
CNV |
VAT1L, CLEC3A, WWOX |
GRCh37 chr16: g.77812516_78260101dup |
isolated CHD: MAD |
|
C0559
|
CNV |
KANSL1, KANSL1-AS1, LRRC37A, ARL17A, ARL17B, NSFP1, LRRC37A2, NSF |
GRCh37 chr17: g.44187491_44784639dup |
isolated CHD: ASD/VSD |
|
C0560
|
CNV |
KANSL1, KANSL1-AS1, LRRC37A, ARL17A, ARL17B, NSFP1, LRRC37A2, NSF |
GRCh37 chr17: g.44187491_44784639dup |
isolated CHD: MVD/PVD/AVD/TVD |
|
C0561
|
CNV |
KANSL1, KANSL1-AS1, LRRC37A, ARL17A, ARL17B, NSFP1, LRRC37A2, NSF |
GRCh37 chr17: g.44187491_44784639dup |
isolated CHD: MAD |
|
C0562
|
CNV |
KANSL1, KANSL1-AS1, LRRC37A, ARL17A, ARL17B, NSFP1, LRRC37A2, NSF |
GRCh37 chr17: g.44187491_44784639dup |
isolated CHD: TOF |
|
C0563
|
CNV |
KANSL1, KANSL1-AS1, LRRC37A, ARL17A, ARL17B, NSFP1, LRRC37A2, NSF |
GRCh37 chr17: g.44187491_44784639dup |
non-isolated CHD: complex CHD |
|
C0564
|
CNV |
CDH19 |
GRCh37 chr18: g.64264933_64504466del |
isolated CHD: ASD/VSD |
|
C0565
|
CNV |
FSTL3, PRSS57, PALM, C19orf21, PTBP1, MIR4745, LPPR3, MIR3187, AZU1, PRTN3, ELANE, CFD, MED16, R3HDM4, KISS1R, ARID3A, WDR18, GRIN3B, C19orf6, CNN2, ABCA7, HMHA1, POLR2E, GPX4, SBNO2, STK11 |
GRCh37 chr19: g.678146_1227017dup |
isolated CHD: TOF |
|
C0566
|
CNV |
PLCB1 |
GRCh37 chr20: g.8102836_8569743dup |
isolated CHD: TOF |
|
C0567
|
CNV |
USP18, GGT3P, DGCR6, PRODH, DGCR5, DGCR9, DGCR10, DGCR2, DGCR11, DGCR14, TSSK2, GSC2, SLC25A1, CLTCL1, HIRA, MRPL40, C22orf39, UFD1L, CDC45, CLDN5, LOC150185, SEPT5, SEPT5-GP1BB, GP1BB, TBX1, GNB1L, C22orf29, TXNRD2, COMT, MIR4761, ARVCF, C22orf25, MIR185, DGCR8, MIR3618, MIR1306, TRMT2A, RANBP1, ZDHHC8, LOC388849, LOC284865, LOC150197, RTN4R, MIR1286, DGCR6L, LOC729444, TMEM191B, PI4KAP1, RIMBP3, ZNF74, SCARF2, KLHL22, MED15, POM121L4P, TMEM191A, PI4KA, SERPIND1, SNAP29, CRKL, AIFM3, LZTR1, THAP7, THAP7-AS1, TUBA3FP, P2RX6, SLC7A4, P2RX6P, LOC400891, BCRP2, POM121L8P, RIMBP3C, RIMBP3B, HIC2 |
GRCh37 chr22: g.18644790_21798907del |
isolated CHD: ASD/VSD |
|
C0568
|
CNV |
USP18, GGT3P, DGCR6, PRODH, DGCR5, DGCR9, DGCR10, DGCR2 |
GRCh37 chr22: g.18649166_19024659dup |
isolated CHD: ASD/VSD |
|
C0569
|
CNV |
IGLL3P, LRP5L, CRYBB2P1, ADRBK2 |
GRCh37 chr22: g.25656237_26007508dup |
isolated CHD: ASD/VSD |
|
C0570
|
CNV |
IGLL3P, LRP5L, CRYBB2P1, ADRBK2 |
GRCh37 chr22: g.25656237_26007508dup |
isolated CHD: MVD/PVD/AVD/TVD |
|
C0571
|
CNV |
IGLL3P, LRP5L, CRYBB2P1, ADRBK2 |
GRCh37 chr22: g.25656237_26007508dup |
isolated CHD: MAD |
|
C0572
|
CNV |
IGLL3P, LRP5L, CRYBB2P1 |
GRCh37 chr22: g.25656218_25925187del |
isolated CHD: ASD/VSD |
|
C0573
|
CNV |
IGLL3P, LRP5L, CRYBB2P1 |
GRCh37 chr22: g.25656218_25925187del |
isolated CHD: MVD/PVD/AVD/TVD |
|
C0574
|
CNV |
SHOX |
GRCh37 chrX: g.566009_668673dup |
isolated CHD: MAD |
|
C0575
|
CNV |
BRWD3 |
GRCh37 chrX: g.79935240_80327293dup |
isolated CHD: MAD |
|
C0576
|
CNV |
SPANXA2-OT1, SPANXA2, SPANXA1 |
GRCh37 chrX: g.140340736_140783042del |
isolated CHD: MAD |
|
C0577
|
CNV |
ATRNL1 |
GRCh37 chr10: g.117108537_117433657del |
isolated CHD: APVR |
|
C0578
|
CNV |
ATRNL1 |
GRCh37 chr10: g.117108537_117433657del |
isolated CHD: VSD |
|
C0579
|
CNV |
ATRNL1 |
GRCh37 chr10: g.117108537_117433657del |
isolated CHD: TOF |
|
C0580
|
CNV |
ATRNL1 |
GRCh37 chr10: g.117108537_117433657del |
isolated CHD: ASD |
|
C0581
|
CNV |
MIR548AI, PRKD1 |
GRCh37 chr14: g.29904720_30316660dup |
isolated CHD: VSD |
|
C0582
|
CNV |
USP34 |
GRCh37 chr2: g.61567864_61568645del |
isolated CHD: AS |
|
C0583
|
CNV |
CNTN6 |
GRCh37 chr3: g.1145284_1237776del |
isolated CHD: VSD |
|
C0584
|
CNV |
NRIP1 |
GRCh37 chr21: g.16378214_16782361del |
isolated CHD: MVP |
|
C0585
|
CNV |
C1orf101, DESI2 |
GRCh37 chr1: g.244744915_244828276del |
isolated CHD: HLHS |
|
C0586
|
CNV |
ATG7, VGLL4 |
GRCh37 chr3: g.11393089_11618468del |
isolated CHD: ASD |
|
C0587
|
CNV |
PDSS2, SOBP |
GRCh37 chr6: g.107461798_107814267del |
isolated CHD: VSD |
|
C0588
|
CNV |
IRF4, EXOC2, HUS1B |
GRCh37 chr6: g.366332_771504del |
isolated CHD: VSD |
|
C0589
|
CNV |
RNPS1, MIR3677, MIR940,MIR4717, ABCA3 |
GRCh37 chr16: g.2312956_2353159del |
isolated CHD: ASD |
|
C0590
|
CNV |
ANKRD11, LOC101927817,SPG7, RPL13, SNORD68,CPNE7 |
GRCh37 chr16: g.89475450_89652148del |
isolated CHD: AVC |
|
C0591
|
CNV |
GART, SON, MIR6501,DONSON, CRYZL1, ITSN1 |
GRCh37 chr21: g.34886796_35051669del |
isolated CHD: ASD |
|
C0592
|
CNV |
SCCPDH, LINC01341,AHCTF1, ZNF695,ZNF670-ZNF695 |
GRCh37 chr1: g.246839121_247179291del |
isolated CHD: VSD |
|
C0593
|
CNV |
RNPS1, MIR3677, MIR940,MIR4717, ABCA3 |
GRCh37 chr17: g.43868982_44378247del |
non-isolated CHD: ASD, VSD |
|
C0594
|
CNV |
PNPLA7, MRPL41, DPH7,ZMYND19, ARRDC1,ARRDC1-AS1, EHMT1 |
GRCh37 chr9: g.140403363_140596152del |
non-isolated CHD: ASD, CoA |
|
C0595
|
CNV |
HIC2, RIMBP3B, RIMBP3C,TMEM191C, PI4KAP2,UBE2L3, YDJC, CCDC116,SDF2L1, MIR130B, MIR301B,PPIL2, YPEL1, MAPK1, PPM1F,TOP3B, IGLC1 |
GRCh37 chr22: g.21721591_22423216del |
isolated CHD: VSD |
|
C0596
|
CNV |
HIC2, RIMBP3B, RIMBP3C,TMEM191C, PI4KAP2,UBE2L3, YDJC, CCDC116,SDF2L1, MIR130B, MIR301B,PPIL2, YPEL1, MAPK1, PPM1F,TOP3B, IGLC1 |
GRCh37 chr22: g.21721591_22423216del |
isolated CHD: VSD |
|
C0597
|
CNV |
HIC2, RIMBP3B, RIMBP3C,TMEM191C, PI4KAP2,UBE2L3, YDJC, CCDC116,SDF2L1, MIR130B, MIR301B,PPIL2, YPEL1, MAPK1, PPM1F,TOP3B, IGLC1 |
GRCh37 chr22: g.21721591_22423216del |
isolated CHD: TOF |
|
C0598
|
CNV |
HIC2, RIMBP3B, RIMBP3C,TMEM191C, PI4KAP2,UBE2L3, YDJC, CCDC116,SDF2L1, MIR130B, MIR301B,PPIL2, YPEL1, MAPK1, PPM1F,TOP3B, IGLC1 |
GRCh37 chr22: g.21721591_22423216del |
isolated CHD: AVC |
|
C0599
|
CNV |
26 genes |
GRCh37 chr19: g.16517519_17477318del |
isolated CHD: TOF |
|
C0600
|
CNV |
40 genes |
GRCh37 chr19: g.259395_1144343del |
isolated CHD: ASD |
|
C0601
|
CNV |
ATP2B4 |
chr1: g.203595689_203713209dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0602
|
CNV |
LIMCH1 |
chr4: g.41361624_41702061dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0603
|
CNV |
ZCCHC6 |
chr9: g.88902648_88969369dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0604
|
CNV |
AGO1 |
chr1: g.36335409_36395211dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0605
|
CNV |
CBX5 |
chr12: g.54624724_54673886dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0606
|
CNV |
MAPRE1 |
chr20: g.31407699_31438211dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0607
|
CNV |
SEPT4 |
chr17: g.56597611_56618179dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0608
|
CNV |
MTMR4 |
chr17: g.56566898_56595266dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0609
|
CNV |
UBE2D3 |
chr4: g.103715540_103790053dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0610
|
CNV |
WHSC1 |
chr4: g.1873151_1983934dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0611
|
CNV |
STK38 |
chr6: g.36461669_36515247dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0612
|
CNV |
APBB3 |
chr5: g.139937853_139973337dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0613
|
CNV |
ZMIZ2 |
chr7: g.44788180_44809477dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0614
|
CNV |
HERC3 |
chr4: g.89442199_89629693dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0615
|
CNV |
RGS3 |
chr9: g.116207011_116360018dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0616
|
CNV |
DNAJA4 |
chr15: g.78556428_78574538dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0617
|
CNV |
SCAMP2 |
chr15: g.75136071_75165706dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0618
|
CNV |
SLIT2 |
chr4: g.20254883_20622184dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0619
|
CNV |
ZMYM4 |
chr1: g.35734568_35887659dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0620
|
CNV |
ARID3B |
chr15: g.74833518_74890472dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0621
|
CNV |
BRWD1 |
chr21: g.40556102_40693485del |
isolated CHD/non-isolated CHD: TOF/other |
|
C0622
|
CNV |
DIP2C |
chr10: g.320130_735683del |
isolated CHD/non-isolated CHD: TOF/other |
|
C0623
|
CNV |
EYA3 |
chr1: g.28296855_28415207del |
isolated CHD/non-isolated CHD: TOF/other |
|
C0624
|
CNV |
GRB10 |
chr7: g.50657760_50861159del |
isolated CHD/non-isolated CHD: TOF/other |
|
C0625
|
CNV |
UBASH3B |
chr11: g.122526383_122685181del |
isolated CHD/non-isolated CHD: TOF/other |
|
C0626
|
CNV |
HNRNPC |
chr14: g.21677295_21737653dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0627
|
CNV |
RC3H2 |
chr9: g.125606835_125667620dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0628
|
CNV |
SLIT3 |
chr5: g.168088745_168728133dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0629
|
CNV |
TLN1 |
chr9: g.35696945_35732392dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0630
|
CNV |
RANBP9 |
chr6: g.13621730_13711796dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0631
|
CNV |
SAMD4A |
chr14: g.55033815_55260033dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0632
|
CNV |
PIAS1 |
chr15: g.68346517_68483096dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0633
|
CNV |
BTBD1 |
chr15: g.83685174_83736106dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0634
|
CNV |
TNPO1 |
chr5: g.72112139_72212560dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0635
|
CNV |
RBM27 |
chr5: g.145583113_145718814dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0636
|
CNV |
ABLIM1 |
chr10: g.116190872_116444762dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0637
|
CNV |
RBFOX2 |
chr22: g.36134783_36424473dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0638
|
CNV |
MTMR3 |
chr22: g.30279144_30426855dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0639
|
CNV |
DAAM1 |
chr14: g.59655364_59838123dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0640
|
CNV |
TCERG1 |
chr5: g.145826874_145891524dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0641
|
CNV |
RALGPS2 |
chr1: g.178694300_178889238dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0642
|
CNV |
PTK2B |
chr8: g.27168999_27316903dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0643
|
CNV |
CANX |
chr5: g.179105629_179157926dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0644
|
CNV |
ADAM19 |
chr5: g.156822542_157002783dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0645
|
CNV |
SULF1 |
chr8: g.70378859_70573150dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0646
|
CNV |
ARHGAP29 |
chr1: g.94614544_94740624dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0647
|
CNV |
ACTR1A |
chr10: g.104238986_104262482dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0648
|
CNV |
LARP1 |
chr5: g.154092462_154197167dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0649
|
CNV |
AP1G1 |
chr16: g.71762913_71843104dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0650
|
CNV |
STAT6 |
chr12: g.57489191_57525922dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0651
|
CNV |
FZD2 |
chr17: g.42634925_42636907dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0652
|
CNV |
ZDHHC20 |
chr13: g.21950263_22033509dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0653
|
CNV |
ARHGEF12 |
chr11: g.120207787_120360645dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0654
|
CNV |
SCAF8 |
chr6: g.155054459_155155192dup |
isolated CHD/non-isolated CHD: TOF/other |
|
C0655
|
CNV |
PRKAB2 |
chr1: g.0_0del |
isolated CHD: TOF |
|
C0656
|
CNV |
PRKAB2 |
chr1: g.0_0del |
isolated CHD: VSD |
|
C0657
|
CNV |
PPM1K |
chr4: g.0_0dup |
isolated CHD: VSD |
|
C0658
|
CNV |
N/A |
GRCh7 chr7: g.10000_2464000dup |
isolated CHD: AA |
|
C0659
|
CNV |
N/A |
GRCh11 chr11: g.126778000_134946000del |
isolated CHD: AA |
|
C0660
|
CNV |
N/A |
GRCh11 chr11: g.123400000_134945000del |
isolated CHD: AA |
|
C0661
|
CNV |
N/A |
GRCh11 chr11: g.121197000_134946000del |
isolated CHD: AA |
|
C0662
|
CNV |
N/A |
GRCh19 chr19: g.56341000_59106000dup |
isolated CHD: AA |
|
C0663
|
CNV |
N/A |
GRCh1 chr1: g.572000_572000del |
isolated CHD: AA |
|
C0664
|
CNV |
N/A |
GRCh12 chr12: g.52895000_58205000dup |
isolated CHD: AA |
|
C0665
|
CNV |
N/A |
GRCh12 chr12: g.132185000_133815000dup |
isolated CHD: AA |
|
C0666
|
CNV |
N/A |
GRCh7 chr7: g.72727000_74340000del |
isolated CHD: AA |
|
C0667
|
CNV |
HAND2 |
NA |
isolated CHD: unicuspid aortic valve, moderate aortic stenosis, and mild pulmonic stenosis |
|
C0668
|
CNV |
MAP3K1 |
chr5: g.55271819_56160752Los |
isolated CHD: ASD、VSD、PDA |
|
C0669
|
CNV |
MYC |
chr8: g.126448254_128753230Gai |
isolated CHD: ASD、VSD、PDA |
|
C0670
|
CNV |
VAV2, WDR5, RXRA |
chr9: g.136399757_137777116Gai |
isolated CHD: ASD、VSD、PDA |
|
C0671
|
CNV |
APLNR |
chr11: g.55321803_57081431Gai |
isolated CHD: ASD、VSD、PDA |
|
C0672
|
CNV |
TJP1 |
chr15: g.30260863_30845202Gai |
isolated CHD: ASD、VSD、PDA |
|
C0673
|
CNV |
ERCC2, FOSB |
chr19: g.45766310_46333603Gai |
isolated CHD: ASD、VSD、PDA |
|
C0674
|
CNV |
CHRNA4 |
chr20: g.61588157_62197556Gai |
isolated CHD: ASD、VSD、PDA |
|
C0675
|
CNV |
FH, MTR, HNRNPU, AKT3, RYR2, EDARADD, ZBTB18,
GREM2, COX20, CHRM3, NLRP3, FMN2, ACTN2 |
NA |
isolated CHD: EA,PS, VSD |
|
C0676
|
CNV |
NOTCH1 |
GRCh9 chr9: g.139317303_139536464del |
isolated CHD: Bicuspid aortic valve |
|
C0677
|
CNV |
NOTCH1 |
GRCh9 chr9: g.138496650_139110923del |
isolated CHD: Bicuspid aortic valve |
|
C0678
|
CNV |
Sox7 |
NA |
isolated CHD: partial AVSD，
mitral regurgitation (MR) ，tricuspid regurgitation
(TR) |
|
C0679
|
CNV |
MYC |
GRCh37 chr8: g.119328435_146295771dup |
isolated CHD: TOF |
|
C0680
|
CNV |
MYC |
GRCh37 chr8: g.119261902_146295771dup |
isolated CHD: TOF |
|
C0681
|
CNV |
TBC1D23 |
GRCh3 chr3: g.99471505_100319058dup |
isolated CHD: CAVC, PFO |
|
C0682
|
CNV |
PUF60 |
GRCh8 chr8: g.141845636_144390430del |
isolated CHD: CAVC, PFO |
|
C0683
|
CNV |
STMN2, ZBTB10 |
GRCh8 chr8: g.78588699_84286313del |
isolated CHD: CAVC, PFO |
|
C0684
|
CNV |
ELN |
GRCh7 chr7: g.73230400_74752194del |
isolated CHD: CAVC, PFO |
|
C0685
|
CNV |
uncertain |
GRCh9 chr9: g.18721_38816830dup |
isolated CHD: CAVC, PFO |
|
C0686
|
CNV |
N/A |
GRCh21 chr21: g.13038109_46687133dup |
isolated CHD: CAVC, PFO |
|
C0687
|
CNV |
INHBA |
GRCh7 chr7: g.40813257_41931182dup |
isolated CHD: CAVC, PFO |
|
C0688
|
CNV |
TENA2, SLT3 |
NA |
isolated CHD: CAVC, PFO |
|
C0689
|
CNV |
PCDH19 |
GRCh7 chrX: g.100407113_101349032dup |
isolated CHD: CAVC, PFO |
|
C0690
|
CNV |
LEFTY1, LEFTY2 |
GRCh1 chr1: g.225487757_227180965dup |
isolated CHD: CAVC, PFO |
|
C0691
|
CNV |
CYP2681 |
GRCh2 chr2: g.71674242_72187074dup |
isolated CHD: CAVC, PFO |
|
C0692
|
CNV |
ZBTB10 |
GRCh8 chr8: g.80259789_88874526del |
isolated CHD: CAVC, PFO |
|
C0693
|
CNV |
PCDHA8, PCDHA9, PCDHA10 |
NA |
isolated CHD: LVOTO\BAV |
|
C0694
|
CNV |
PCDHA7, PCDHA8, PCDHA9 |
NA |
isolated CHD: LVOTO\BAV |
|
C0695
|
CNV |
N/A |
chr2: g.21191_3062258del |
isolated CHD: HLHS |
|
C0696
|
CNV |
N/A |
chr1: g.226703815_249203359dup |
isolated CHD: HLHS |
|
C0697
|
CNV |
N/A |
chr3: g.37646228_38961056del |
isolated CHD: HLHS |
|
C0698
|
CNV |
N/A |
chr3: g.27228808_33971880del |
isolated CHD: HLHS |
|
C0699
|
CNV |
N/A |
chr5: g.22149_45362363dup |
isolated CHD: HLHS |
|
C0700
|
CNV |
N/A |
chr6: g.156813910_162033274dup |
isolated CHD: HLHS |
|
C0701
|
CNV |
N/A |
chr6: g.163436214_170847447dup |
isolated CHD: HLHS |
|
C0702
|
CNV |
N/A |
chr7: g.31773017_42738664del |
isolated CHD: HLHS |
|
C0703
|
CNV |
N/A |
chr8: g.7113656_12454089del |
isolated CHD: HLHS |
|
C0704
|
CNV |
N/A |
chr8: g.6224261_21242145del |
isolated CHD: HLHS |
|
C0705
|
CNV |
N/A |
chr8: g.191605_12454089del |
isolated CHD: HLHS |
|
C0706
|
CNV |
N/A |
chr10: g.46426869_135404550dup |
isolated CHD: HLHS |
|
C0707
|
CNV |
N/A |
chr11: g.113082_46371104dup |
isolated CHD: HLHS |
|
C0708
|
CNV |
N/A |
chr12: g.100698_34647463dup |
isolated CHD: HLHS |
|
C0709
|
CNV |
N/A |
chr13: g.57950814_67755631dup |
isolated CHD: HLHS |
|
C0710
|
CNV |
N/A |
chr15: g.20686203_23586302del |
isolated CHD: HLHS |
|
C0711
|
CNV |
N/A |
chr17: g.1656_5534353del |
isolated CHD: HLHS |
|
C0712
|
CNV |
N/A |
chr2: g.50_450000del |
isolated CHD: RAA |
|
C0713
|
CNV |
ARNT2, RPS17, AP382 |
NA |
isolated CHD: RAA |
|
C0714
|
CNV |
SDHA, NDUFS6 |
chr5: g.20000_23980000del |
isolated CHD: RAA |
|
C0715
|
CNV |
POR |
chr7: g.72260000_76000000del |
isolated CHD: RAA |
|
C0716
|
CNV |
AGRN, 83GALT6, TME/M240 |
chr1: g.820000_3320000dup |
isolated CHD: RAA |
|
C0717
|
CNV |
SDHA |
chr5: g.20000_16500000del |
isolated CHD: RAA |
|
C0718
|
CNV |
BMP2 |
chr20: g.6300001_8580000del |
isolated CHD: RAA |
|
C0719
|
CNV |
N/A |
chr8: g.6920000_12580000dup |
isolated CHD: RAA |
|
C0720
|
CNV |
PRODH |
chr22: g.18880000_21440000del |
isolated CHD: RAA |
|
C0721
|
CNV |
PEX26, TUBA8, PRODH |
chr22: g.18564800_24300000del |
isolated CHD: RAA |
|
C0722
|
CNV |
CLTCL 1, HIRA, TBX1 |
chr22: g.18970561_21800471del |
isolated CHD: RAA |
|
C0723
|
CNV |
PRRT2, KCTD13, TBX6, MAPK3 |
chr16: g.29428531_30190029del |
isolated CHD: RAA |
|
C0724
|
CNV |
KPTN |
chr21: g.39985071_48093361del |
isolated CHD: RAA |
|
C0725
|
CNV |
N/A |
chr9: g.133343703_141018648dup |
isolated CHD: RAA |
|
C0726
|
CNV |
FOXF1, FOXC2, FOXL1 |
chr16: g.85520919_87149214del |
isolated CHD: RAA |
|
C0727
|
CNV |
CLTCL 1, HIRA, TBX1 |
chr22: g.18636749_21800471del |
isolated CHD: RAA |
|
C0728
|
CNV |
TUBGCP5, CYFIP1, NIPA2, NIPA1 |
chr15: g.22770421_23625785del |
isolated CHD: RAA |
|
C0729
|
CNV |
DNAH9 |
GRCh17 chr17: g.11486795_11568385del |
isolated CHD: SV, PAS,SI |
|
C0730
|
CNV |
GLI2 |
chr2: g.121477769_121715896dup |
isolated CHD: TOF，coronary
sinus enlargement, and persistent LSVA |
|
C0731
|
CNV |
NSD1(partial) |
GRCh5 chr5: g.176598618_177198436dup |
isolated CHD: AVSD |
|
C0732
|
CNV |
FLT4(partial) |
GRCh5 chr5: g.180035579_180206228dup |
isolated CHD: AVSD |
|
C0733
|
CNV |
CRKL |
GRCh22 chr22: g.21050078_21800471del |
isolated CHD: AVSD |
|
C0734
|
CNV |
TBX1 |
GRCh22 chr22: g.18916828_19784699del |
isolated CHD: AVSD |
|
C0735
|
CNV |
JARID2(partial) |
GRCh6 chr6: g.15283550_16036315dup |
isolated CHD: AVSD |
|
C0736
|
CNV |
KDM2A |
GRCh11 chr11: g.66832101_66967055dup |
isolated CHD: AVSD |
|
C0737
|
CNV |
CYFIP1 |
GRCh15 chr15: g.22770422_2328279del |
isolated CHD: AVSD |
|
C0738
|
CNV |
NBPF8, NBPF13P, ACP6, PRKAB2, GJA5, FMO5, GJA8, PDIA3P1, LINC00624, PDZK1P2, LOC101927468, BCL9, NBPF11, MIR5087, GPR89B, CHD1L |
chr1: g.146584283_147806803del |
isolated CHD: AVSD (complete)/PH |
|
C0739
|
CNV |
MALL, NPHP1 |
chr2: g.110855124_110962791del |
isolated CHD: AVSD (complete)/PH |
|
C0740
|
CNV |
MALL, NPHP1 |
chr2: g.110855124_110962647del |
isolated CHD: AVSD (complete)/PH |
|
C0741
|
CNV |
MALL, NPHP1, MIR4267, MIR4436B1, MIR4436B2 |
chr2: g.110827494_110962635del |
isolated CHD: AVSD (complete)/PH |
|
C0742
|
CNV |
PRSS55, TNKS, RP1L1, PPP1R3B, SGK223, MIR4660, CLDN23, MIR124-1, MFHAS1, ERI1, C8orf74, SOX7, MSRA, LINCR-0001, LINC00599, MIR597, LOC157273, FAM86B3P, LOC101929128 |
chr8: g.8098153_10588092del |
isolated CHD: AVSD (complete)/PH |
|
C0743
|
CNV |
SNX29P1, SMG1P3, LOC101927814, METTL9, OTOA, IGSF6, NPIPB3, RRN3P1, LOC100190986, SLC7A5P2 |
chr16: g.21391473_21830024del |
isolated CHD: AVSD (complete)/PH |
|
C0744
|
CNV |
METTL9, IGSF6, OTOA, LOC101927814, RRN3P1 |
chr16: g.21608536_21907102del |
isolated CHD: AVSD (complete)/PH |
|
C0745
|
CNV |
N/A |
chr21: g.26946247_48084365dup |
isolated CHD: AVSD (complete)/PH |
|
C0746
|
CNV |
N/A |
chr21: g.26946247_48084365dup |
isolated CHD: AVSD (complete)/PH |
|
C0747
|
CNV |
N/A |
chr21: g.26946247_45837963dup |
isolated CHD: AVSD (complete)/PH |
|
C0748
|
CNV |
N/A |
chr21: g.30250542_48084365dup |
isolated CHD: AVSD (complete)/PH |
|
C0749
|
CNV |
N/A |
chr21: g.30250542_48084365dup |
isolated CHD: AVSD (complete)/PH |
|
C0750
|
CNV |
N/A |
chr21: g.30251994_48084365dup |
isolated CHD: AVSD (complete)/PH |
|
C0751
|
CNV |
N/A |
chr21: g.30251994_48084365dup |
isolated CHD: AVSD (complete)/PH |
|
C0752
|
CNV |
N/A |
chr21: g.30251994_40551975dup |
isolated CHD: AVSD (complete)/PH |
|
C0753
|
CNV |
N/A |
chr21: g.30257471_48084365dup |
isolated CHD: AVSD (complete)/PH |
|
C0754
|
CNV |
N/A |
chr21: g.30303475_40695048dup |
isolated CHD: AVSD (complete)/PH |
|
C0755
|
CNV |
N/A |
chr21: g.34117827_48084365dup |
isolated CHD: AVSD (complete)/PH |
|
C0756
|
CNV |
N/A |
GRChX chrX: g.178624_54151362dup |
isolated CHD: partial endocardial pad defect ,permanently dilated coronary
sinus, left superior vena cava |
|
C0757
|
CNV |
DOCK8、KANK1 |
GRCh9 chr9: g.346084_700056dup |
isolated CHD: Pulmonary artery stenosis, valvular and supravalvular pulmonary stenosis, aortic stenosis |
|
C0758
|
CNV |
DMRT1 |
GRCh9 chr9: g.788363_864099dup |
isolated CHD: Pulmonary artery stenosis, valvular and supravalvular pulmonary stenosis, aortic stenosis |
|
C0759
|
CNV |
SMARCA2 |
GRCh9 chr9: g.2271746_2351089dup |
isolated CHD: Pulmonary artery stenosis, valvular and supravalvular pulmonary stenosis, aortic stenosis |
|
C0760
|
CNV |
SMAD5、TGFB1 |
chr5: g.135172706_136488443del |
isolated CHD: ASD, VSD |
|
C0761
|
CNV |
RBFOX2、APOL5、APOL6 |
GRCh37 chr22: g.36051588_36195813del |
isolated CHD: HLHS（patent aortic valve and mitral valve, diminutive left
ventricle, an ascending aorta , and coarctation of the aorta |
|
C0762
|
CNV |
RBFOX2 |
GRCh38 chr0: g.35655541_35799766gen |
isolated CHD: HLHS,VSD,CoA,Aortic valve abnormal |
|
C0763
|
CNV |
RBFOX2 |
GRCh38 chr0: g.32863077_35939011gen |
isolated CHD: HLHS,VSD,CoA,Aortic valve abnormal |
|
C0764
|
CNV |
RBFOX2 |
GRCh38 chr0: g.33519384_36552435gen |
isolated CHD: HLHS,VSD,CoA,Aortic valve abnormal |
