|
C0001 |
CNV |
NA |
NA |
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 |
NA |
isolated CHD: AC |
|
C0015 |
CNV |
ZNF710, IDH2, SEMA4B, CIB1, LOC390637, TTLL13, NGRN, ZNF774, QGAP1 |
NA |
isolated CHD: VSD |
|
C0016 |
CNV |
TBX1 |
NA |
isolated CHD: VSD |
|
C0017 |
CNV |
SPOCK3, ANXA10 |
NA |
non-isolated CHD: VSD, PDA |
|
C0018 |
CNV |
NA |
NA |
isolated CHD: PS |
|
C0019 |
CNV |
OPCML |
NA |
isolated CHD: VSD |
|
C0020 |
CNV |
KIAA0564, DGKH |
NA |
non-isolated CHD: BAV, AI |
|
C0021 |
CNV |
MACROD2 |
NA |
non-isolated CHD: AS, BAV |
|
C0022 |
CNV |
HIC2, UBE2L3, YDJC, CCDC116, SDF2L1, PPIL2, YPEL1, MAPK1,
PPM1F, TOP3B, VPREB1, ZNF280B, ZNF280A, PRAME, GGTLC2 |
NA |
non-isolated CHD: SA, VSD, TVD, RVH |
|
C0023 |
CNV |
TBX1 |
NA |
non-isolated CHD: AC, VSD |
|
C0024 |
CNV |
TNFSF11, C13orf30, EPSTI1, DNAJD2, ENOX1, CDC122, C13orf31C |
NA |
non-isolated CHD: ALV, TAPVC, VSD |
|
C0025 |
CNV |
RAI1 |
NA |
non-isolated CHD: VSD, ASD |
|
C0026 |
CNV |
CD160, PDZK1, NBPF11, PRKAB2, FMO5, CHD1L, BCL9, ACP6,
GJA5, GJA8, GPR89, FLJ39739 |
NA |
non-isolated CHD: ASD, PDA |
|
C0027 |
CNV |
BIRC6, TTC27, LTBP1 |
NA |
isolated CHD: VSD |
|
C0028 |
CNV |
SLC25A38, RPSA, MOBP |
NA |
isolated CHD: AC |
|
C0029 |
CNV |
FAM62C, CEP70, FAIM, PIK3CB, FOXL2, BPESC1 |
NA |
isolated CHD: TAPVC |
|
C0030 |
CNV |
MEGF10, PRRC1, CTXN3 |
NA |
non-isolated CHD: DORV, CoA |
|
C0031 |
CNV |
Gene empty region |
NA |
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 |
NA |
isolated CHD: DOA |
|
C0120 |
CNV |
PXDNL |
NA |
isolated CHD: LS-CHD |
|
C0121 |
CNV |
PXDNL |
NA |
isolated CHD: LS-CHD |
|
C0122 |
CNV |
SMC1A, RJBC1, IQSEC2, HSD17B10 |
NA |
non-isolated CHD: DOA, LS-CHD |
|
C0123 |
CNV |
PXDNL |
NA |
non-isolated CHD: DOA, LS-CHD |
|
C0124 |
CNV |
PARP14, HSPBAP1, DIRC2, SEMA5 |
NA |
non-isolated CHD: DOA, VSD, BAV |
|
C0125 |
CNV |
LIMS1 |
NA |
non-isolated CHD: DOA, VSD, BAV |
|
C0126 |
CNV |
PARP14, HSPBAP1, DIRC2, SEMA5 |
NA |
non-isolated CHD: BAV, CoA, VSD |
|
C0127 |
CNV |
LIMS1 |
NA |
non-isolated CHD: BAV, CoA, VSD |
|
C0128 |
CNV |
NA |
NA |
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 |
NA |
non-isolated CHD: LS-CHD, other |
|
C0131 |
CNV |
KDELC1, C13orf39, C13orf40, C13orf27, TPP2, BIVM, ERCC5 |
NA |
isolated CHD: LS-CHD |
|
C0132 |
CNV |
NGEF |
NA |
isolated CHD: LS-CHD |
|
C0133 |
CNV |
NGEF |
NA |
isolated CHD: LS-CHD |
|
C0134 |
CNV |
NA |
NA |
non-isolated CHD: NA |
|
C0135 |
CNV |
OR6S1, ANG, RNASE4 |
NA |
non-isolated CHD: LS-CHD, other |
|
C0136 |
CNV |
OR6S1, ANG, RNASE4 |
NA |
isolated CHD: LS-CHD |
|
C0137 |
CNV |
NFATC1 |
NA |
isolated CHD: VSD |
|
C0138 |
CNV |
AK097143 |
chr6: g.142187041_142290041del |
isolated CHD: VSD |
|
C0139 |
CNV |
CRKL |
NA |
isolated CHD: VSD |
|
C0140 |
CNV |
PLXNA1 |
NA |
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 |
NA |
isolated CHD: TOF |
|
C0154 |
CNV |
NA |
NA |
non-isolated CHD: TOF, PDA/PA, PDA |
|
C0155 |
CNV |
NA |
NA |
non-isolated CHD: TOF, MAPCA/PA, MAPCA |
|
C0156 |
CNV |
NA |
NA |
non-isolated CHD: TOF, APV |
|
C0157 |
CNV |
NA |
NA |
isolated CHD: IAA |
|
C0158 |
CNV |
NA |
NA |
isolated CHD: VSD |
|
C0159 |
CNV |
NA |
NA |
isolated CHD: DORV |
|
C0160 |
CNV |
NA |
NA |
isolated CHD: CoA |
|
C0161 |
CNV |
NA |
NA |
isolated CHD: PTA |
|
C0162 |
CNV |
NA |
NA |
isolated CHD: AVS |
|
C0163 |
CNV |
NA |
NA |
isolated CHD: HLHS |
|
C0164 |
CNV |
NA |
NA |
isolated CHD: RAA |
|
C0165 |
CNV |
NA |
NA |
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 |
NA |
isolated CHD: TOF |
|
C0187 |
CNV |
NA |
NA |
isolated CHD: TOF |
|
C0188 |
CNV |
NA |
NA |
isolated CHD: TOF |
|
C0189 |
CNV |
NA |
NA |
non-isolated CHD: VSD, PS |
|
C0190 |
CNV |
NA |
NA |
isolated CHD: ECD |
|
C0191 |
CNV |
NA |
NA |
isolated CHD: NA |
|
C0192 |
CNV |
NA |
NA |
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 |
|
isolated CHD: TOF |
|
C0199 |
CNV |
GATA4 |
|
isolated CHD: TOF |
|
C0200 |
CNV |
GATA4 |
|
isolated CHD: TOF |
|
C0201 |
CNV |
CAT |
|
isolated CHD: VSD |
|
C0202 |
CNV |
HNRNPKP3 |
|
isolated CHD: ASD |
|
C0203 |
CNV |
EHBP1L1, LTBP3, MAP3K11, PCNXL3, SCYL1, SSSCA1 |
|
non-isolated CHD: TOF, PA |
|
C0204 |
CNV |
GJA5 |
|
non-isolated CHD: TOF, APV |
|
C0205 |
CNV |
LOC283177 |
|
isolated CHD: VSD |
|
C0206 |
CNV |
SLC2A14, SLC2A3 |
|
non-isolated CHD: LVNC, VSD |
|
C0207 |
CNV |
KRT6C |
|
isolated CHD: HLHS |
|
C0208 |
CNV |
TIMM9, TOMM20L |
|
isolated CHD: TOF |
|
C0209 |
CNV |
LIN52 |
|
isolated CHD: TOF |
|
C0210 |
CNV |
CYFIP1 |
|
isolated CHD: CoA |
|
C0211 |
CNV |
CYFIP1 |
|
isolated CHD: CoA |
|
C0212 |
CNV |
CYFIP1 |
|
non-isolated CHD: TOF, PA |
|
C0213 |
CNV |
HERC2 |
|
isolated CHD: ASD |
|
C0214 |
CNV |
EIF3J, SPG11 |
|
non-isolated CHD: TA, D-TGA |
|
C0215 |
CNV |
GJA5 |
|
isolated CHD: TOF |
|
C0216 |
CNV |
NTRK3 |
|
non-isolated CHD: TOF, D-TGA |
|
C0217 |
CNV |
TOP2A |
|
isolated CHD: TOF |
|
C0218 |
CNV |
EIF1 |
|
isolated CHD: TOF |
|
C0219 |
CNV |
C5AR1, C5AR2, DHX34 |
|
non-isolated CHD: TOF, PA |
|
C0220 |
CNV |
MACROD2, MACROD2-IT1 |
|
isolated CHD: D-TGA |
|
C0221 |
CNV |
TBX1 |
|
isolated CHD: TOF |
|
C0222 |
CNV |
NA |
|
isolated CHD: TOF |
|
C0223 |
CNV |
APOL5, APOL6, RBFOX2 |
|
isolated CHD: HLHS |
|
C0224 |
CNV |
DDX53, RP11-40F8.2 |
|
non-isolated CHD: TOF, D-TGA |
|
C0225 |
CNV |
OR2T10, OR2T11 |
|
isolated CHD: HLHS |
|
C0226 |
CNV |
PCBP1 |
|
non-isolated CHD: TOF, PA |
|
C0227 |
CNV |
MAP4K4 |
NA |
isolated CHD: HLHS |
|
C0228 |
CNV |
ZEB2 |
|
isolated CHD: HLHS |
|
C0229 |
CNV |
BTD, HACL1 |
|
isolated CHD: TOF |
|
C0230 |
CNV |
CDC25A, DHX30, MAP4, SMARCC1 |
|
isolated CHD: HLHS |
|
C0231 |
CNV |
NA |
NA |
isolated CHD: AS |
|
C0232 |
CNV |
NA |
NA |
isolated CHD: HLHS |
|
C0233 |
CNV |
NA |
NA |
isolated CHD: HLHS |
|
C0234 |
CNV |
NA |
NA |
isolated CHD: HLHS |
|
C0235 |
CNV |
NA |
NA |
isolated CHD: HLHS |
|
C0236 |
CNV |
NA |
NA |
isolated CHD: HLHS |
|
C0237 |
CNV |
NA |
NA |
isolated CHD: HLHS |
|
C0238 |
CNV |
NA |
NA |
isolated CHD: IAA |
|
C0239 |
CNV |
NA |
NA |
isolated CHD: IAA |
|
C0240 |
CNV |
NA |
NA |
isolated CHD: IAA |
|
C0241 |
CNV |
NA |
NA |
non-isolated CHD: PA, VSD |
|
C0242 |
CNV |
NA |
NA |
non-isolated CHD: PA, VSD |
|
C0243 |
CNV |
NA |
NA |
isolated CHD: PS |
|
C0244 |
CNV |
NA |
NA |
isolated CHD: CoA |
|
C0245 |
CNV |
NA |
NA |
isolated CHD: Septation defects |
|
C0246 |
CNV |
NA |
NA |
isolated CHD: Septation defects |
|
C0247 |
CNV |
NA |
NA |
isolated CHD: TOF |
|
C0248 |
CNV |
NA |
NA |
isolated CHD: TOF |
|
C0249 |
CNV |
NA |
NA |
isolated CHD: TOF |
|
C0250 |
CNV |
NA |
NA |
isolated CHD: TAPVR |
|
C0251 |
CNV |
NA |
NA |
isolated CHD: TAPVR |
|
C0252 |
CNV |
NA |
NA |
isolated CHD: TA |
|
C0253 |
CNV |
NA |
NA |
isolated CHD: VSD |
|
C0254 |
CNV |
NA |
NA |
isolated CHD: DORV |
|
C0255 |
CNV |
NA |
NA |
isolated CHD: DORV |
|
C0256 |
CNV |
NA |
NA |
isolated CHD: DORV |
|
C0257 |
CNV |
NA |
NA |
isolated CHD: DORV |
|
C0258 |
CNV |
NA |
NA |
isolated CHD: DORV |
|
C0259 |
CNV |
NA |
NA |
isolated CHD: EA |
|
C0260 |
CNV |
NA |
NA |
isolated CHD: CoA |
|
C0261 |
CNV |
NA |
NA |
isolated CHD: DORV |
|
C0262 |
CNV |
NA |
NA |
isolated CHD: IAA |
|
C0263 |
CNV |
NA |
NA |
non-isolated CHD: PA, VSD |
|
C0264 |
CNV |
NA |
NA |
isolated CHD: TOF |
|
C0265 |
CNV |
NA |
NA |
isolated CHD: TA |
|
C0266 |
CNV |
NA |
NA |
isolated CHD: VSD |
|
C0267 |
CNV |
NA |
NA |
isolated CHD: CTDs |
|
C0268 |
CNV |
MIR598, MTMR9, SLC35G5, TDH,
C8orf12, FAM167A,
BLK, LINC00208,
GATA4, NEIL2, FDFT1, CTSB, REPPb |
|
non-isolated CHD: CIAV, CoA, VSD, parachute mitral valve, transverse hypoplasia |
|
C0269 |
CNV |
PLB1, PPP1CB, SPDYA, TRMT61B,
WDR43, FAM179A, C2orf71, CLIP4 |
|
isolated CHD: CoA |
|
C0270 |
CNV |
LMO7 |
|
isolated CHD: CoA |
|
C0271 |
CNV |
MAFF, TMEM184B |
|
isolated CHD: CoA |
|
C0272 |
CNV |
RASA2 |
|
isolated CHD: CoA |
|
C0273 |
CNV |
PDE8A |
|
isolated CHD: CoA |
|
C0274 |
CNV |
GLIS3, GLIS3-AS1 |
|
isolated CHD: CoA |
|
C0275 |
CNV |
PDCD1LG2, KIAA1432 |
|
isolated CHD: CoA |
|
C0276 |
CNV |
ADH1B |
|
isolated CHD: TGA |
|
C0277 |
CNV |
FAN1, MTMR10, TRPM1, MIR211, RP11-16E12.2, KLF13, OTUD7A, CHRNA7 |
|
isolated CHD: TGA |
|
C0278 |
CNV |
PRDM5 |
|
isolated CHD: TGA |
|
C0279 |
CNV |
VPS13B |
|
isolated CHD: TGA |
|
C0280 |
CNV |
FBN1 |
|
isolated CHD: TGA |
|
C0281 |
CNV |
WDR33 |
|
isolated CHD: TGA |
|
C0282 |
CNV |
CSMD1 |
|
isolated CHD: TGA |
|
C0283 |
CNV |
MAD1L1, FTSJ2 |
|
isolated CHD: CoA |
|
C0284 |
CNV |
ASAP2, ITGB1BP1, CPSF3, IAH1, ADAM17 |
|
isolated CHD: TGA |
|
C0285 |
CNV |
LRCH3, IQCG, RPL35A, LMLN,
ANKRD18DP |
|
isolated CHD: TGA |
|
C0286 |
CNV |
RLN3, IL27RA |
|
isolated CHD: TGA |
|
C0287 |
CNV |
PNPLA4 |
|
isolated CHD: TGA |
|
C0288 |
CNV |
BTRC, POLL |
|
isolated CHD: TGA |
|
C0289 |
CNV |
DAOA-AS1, DAOA, LINC00343 |
|
isolated CHD: TGA |
|
C0290 |
CNV |
BTRC |
|
isolated CHD: TGA |
|
C0291 |
CNV |
CEP85L, BRD7P3, PLN |
|
isolated CHD: TGA |
|
C0292 |
CNV |
ST18, FAM150A, RB1CC1 |
|
isolated CHD: TGA |
|
C0293 |
CNV |
EXOSC9, CCNA2 |
|
isolated CHD: TGA |
|
C0294 |
CNV |
NUSAP1, NDUFAF1 |
|
isolated CHD: TGA |
|
C0295 |
CNV |
SORBS2 |
|
isolated CHD: TGA |
|
C0296 |
CNV |
CNNM2, NT5C2 |
|
isolated CHD: CoA |
|
C0297 |
CNV |
ACSL6, LOC728637 |
|
isolated CHD: TGA |
|
C0298 |
CNV |
CSRP2BP, ZNF133, LINC00851, DZANK1,
POLR3F, MIR3192, RBBP9, SEC23B |
|
isolated CHD: TGA |
|
C0299 |
CNV |
CDR2, PRN3P3 |
|
isolated CHD: TGA |
|
C0300 |
CNV |
TCTE3, ERMARD, LINC00242, LINC00574 |
|
isolated CHD: TGA |
|
C0301 |
CNV |
CAST, ERAP1 |
|
isolated CHD: TGA |
|
C0302 |
CNV |
BASP1P1, SGCG, SACS, SACS-AS1, LINC00327, TNFRSF19, MIPEP,
C1QTNF9B-AS1, ANKRD20A19P |
|
isolated CHD: TGA |
|
C0303 |
CNV |
PTPRN2, MIR5707, NCAPG2, ESYT2 |
|
isolated CHD: TGA |
|
C0304 |
CNV |
ACAD10, ALDH2, MIR6761, MAPKAPK5-AS1, MPKAPK5 |
|
isolated CHD: TGA |
|
C0305 |
CNV |
CHRNB3 |
|
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 |
|
isolated CHD: TOF |
|
C0307 |
CNV |
CDK13 |
|
isolated CHD: CoA |
|
C0308 |
CNV |
STARD3, TCAP, PNMT, PGAP3, ERBB2,
MIR4728, MIEN1, GRB7, IKZF3, ZPBP2 |
|
isolated CHD: TOF |
|
C0309 |
CNV |
ASIC2, AA06, RP11-215E13.1, CCL2, CCL7 |
|
isolated CHD: TOF |
|
C0310 |
CNV |
EIF3B |
|
isolated CHD: TOF |
|
C0311 |
CNV |
LOC653486SCGB1C1, ODF3, BETIL1,
RIC8A, MIR6743, SIRT3, PSMD13, NLRP6,
ATHL1, IFITM5, IFITM2, IFITM1, IFITM3 |
|
isolated CHD: TOF |
|
C0312 |
CNV |
UGP2, VPS54, PELI1, LINC00309 |
|
isolated CHD: TOF |
|
C0313 |
CNV |
SFXN5, RAB11FIP5 |
|
isolated CHD: TOF |
|
C0314 |
CNV |
PVT1 |
|
isolated CHD: TOF |
|
C0315 |
CNV |
GUCA1C, MORC1, FLJ22763, LINC00488 |
|
isolated CHD: TOF |
|
C0316 |
CNV |
ENPP2, TAF2, DSCC1, DEPTOR,
COL14A1 |
|
isolated CHD: TOF |
|
C0317 |
CNV |
TENM1 |
|
isolated CHD: TOF |
|
C0318 |
CNV |
NUP160, PTPRJ, OR4B1, OR4X2, OR4X1, OR4S1, OR4C3 |
|
isolated CHD: CoA |
|
C0319 |
CNV |
CSTF3-AS1, HIPK3 |
|
isolated CHD: TOF |
|
C0320 |
CNV |
AC073283.4, EPCAM, MIR559, MSH2,
KCNK12 |
|
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 |
|
isolated CHD: TOF |
|
C0322 |
CNV |
NASP |
|
isolated CHD: TOF |
|
C0323 |
CNV |
RAD18, SRGAP3 |
|
isolated CHD: TOF |
|
C0324 |
CNV |
PKD1L2, BCMO1 |
|
isolated CHD: TOF |
|
C0325 |
CNV |
MCM3AP, YBEY, C21orf58, PCNT |
|
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 |
|
isolated CHD: TOF |
|
C0327 |
CNV |
BIRC6, TTC27, MIR4765, LINC00486 |
|
isolated CHD: TOF |
|
C0328 |
CNV |
LINC00320, NCAM2, RNU6-67P,
LINC00317, AP000475.2, LINC00308 |
|
isolated CHD: TOF |
|
C0329 |
CNV |
NFATC3, ESRP2, MIR6773, PLA2G15 |
|
isolated CHD: CoA |
|
C0330 |
CNV |
CGNL1 |
|
isolated CHD: TOF |
|
C0331 |
CNV |
ART3, NUP54, SCARB2 |
|
isolated CHD: TOF |
|
C0332 |
CNV |
APBA2, FAM189A1, NDNL2, TJP1 |
|
isolated CHD: TOF |
|
C0333 |
CNV |
PTPRJ |
|
isolated CHD: TOF |
|
C0334 |
CNV |
RPRD2, TARS2, MIR6878, ECM1,
LINC00568, ADAMTSL4, MIR4257,
ADAMSTL4-AS1, MCL1, ENSA, GOLPH3L,
HORMAD1, CTSS, CTSK |
|
isolated CHD: TOF |
|
C0335 |
CNV |
DSG1, RP11-534N16.1, DSG4, DSG3 |
|
isolated CHD: TOF |
|
C0336 |
CNV |
PRPF4B, FAM217A, C6orf201, ECI2, RP3-
400B16.1, CDYL, RPP40 |
|
isolated CHD: TGA |
|
C0337 |
CNV |
MGAM |
|
isolated CHD: CoA |
|
C0338 |
CNV |
SDC1, PUM2 |
|
isolated CHD: CoA |
|
C0339 |
CNV |
FAM73A, NEXN-AS1, NEXN |
|
isolated CHD: CoA |
|
C0340 |
CNV |
LPHN2 |
|
isolated CHD: TGA |
|
C0341 |
CNV |
C16orf52, CDR2, EEF2K, NPIPB5, OTOA, PDZD9, POLR3E, UQCRC2, VWA3A |
|
isolated CHD: TGA |
|
C0342 |
CNV |
CXorf23, MAP7D2, SH3KBP1 |
|
isolated CHD: TGA |
|
C0343 |
CNV |
RERE |
|
isolated CHD: D-TGA |
|
C0344 |
CNV |
SLC8A1 |
|
isolated CHD: ccTGA |
|
C0345 |
CNV |
CCDC141 |
|
isolated CHD: ccTGA |
|
C0346 |
CNV |
IFT57 |
|
isolated CHD: D-TGA |
|
C0347 |
CNV |
LPP |
|
isolated CHD: D-TGA |
|
C0348 |
CNV |
LPP |
|
isolated CHD: D-TGA |
|
C0349 |
CNV |
RB1CC1 |
|
isolated CHD: D-TGA |
|
C0350 |
CNV |
NKX1-2, OAT |
|
isolated CHD: ccTGA |
|
C0351 |
CNV |
IQCJ-SCHIP1, SCHIP1 |
|
isolated CHD: TGA |
|
C0352 |
CNV |
NHS |
|
isolated CHD: D-TGA |
|
C0353 |
CNV |
ACKR3 |
|
isolated CHD: D-TGA |
|
C0354 |
CNV |
ITGB8 |
|
isolated CHD: D-TGA |
|
C0355 |
CNV |
NF1 |
|
isolated CHD: D-TGA |
|
C0356 |
CNV |
SOX18 |
|
isolated CHD: D-TGA |
|
C0357 |
CNV |
NA |
|
isolated CHD: TGA |
|
C0358 |
CNV |
MAGI2 |
|
isolated CHD: TGA |
|
C0359 |
CNV |
SGCZ |
|
isolated CHD: TGA |
|
C0360 |
CNV |
DDX51, EP400, GALNT9, MMP17, PUS1, NOC4L, SFSWAP, ULK1 |
|
isolated CHD: TGA |
|
C0361 |
CNV |
KL, STARD13 |
|
isolated CHD: TGA |
|
C0362 |
CNV |
RBFOX1 |
|
isolated CHD: TGA |
|
C0363 |
CNV |
ABCC1, ABCC6, C16orf45, FOPNL, KIAA0430, MPV17L, MYH11,NDE1, NOMO3, NPIPA5, XYLT1 |
|
isolated CHD: TGA |
|
C0364 |
CNV |
NA |
|
isolated CHD: NA |
|
C0365 |
CNV |
NA |
|
isolated CHD: NA |
|
C0366 |
CNV |
NA |
|
isolated CHD: NA |
|
C0367 |
CNV |
NA |
|
isolated CHD: NA |
|
C0368 |
CNV |
NA |
|
isolated CHD: NA |
|
C0369 |
CNV |
NA |
|
isolated CHD: NA |
|
C0370 |
CNV |
NA |
|
isolated CHD: NA |
|
C0371 |
CNV |
NA |
|
isolated CHD: NA |
|
C0372 |
CNV |
NA |
|
isolated CHD: NA |
|
C0373 |
CNV |
NA |
|
isolated CHD: NA |
|
C0374 |
CNV |
NA |
|
isolated CHD: NA |
|
C0375 |
CNV |
NA |
|
isolated CHD: NA |
|
C0376 |
CNV |
NA |
|
isolated CHD: NA |
|
C0377 |
CNV |
NA |
|
isolated CHD: NA |
|
C0378 |
CNV |
NA |
|
isolated CHD: NA |
|
C0379 |
CNV |
NA |
|
isolated CHD: NA |
|
C0380 |
CNV |
NA |
|
isolated CHD: NA |
|
C0381 |
CNV |
NA |
|
isolated CHD: NA |
|
C0382 |
CNV |
NA |
|
isolated CHD: NA |
|
C0383 |
CNV |
NA |
|
isolated CHD: NA |
|
C0384 |
CNV |
NA |
|
isolated CHD: NA |
|
C0385 |
CNV |
NA |
|
isolated CHD: NA |
|
C0386 |
CNV |
NA |
|
isolated CHD: NA |
|
C0387 |
CNV |
NA |
|
isolated CHD: NA |
|
C0388 |
CNV |
NA |
|
isolated CHD: NA |
|
C0389 |
CNV |
NA |
|
isolated CHD: NA |
|
C0390 |
CNV |
NA |
|
isolated CHD: NA |
|
C0391 |
CNV |
NA |
|
isolated CHD: NA |
|
C0392 |
CNV |
NA |
|
isolated CHD: NA |
|
C0393 |
CNV |
NA |
|
isolated CHD: NA |
|
C0394 |
CNV |
NA |
|
isolated CHD: NA |
|
C0395 |
CNV |
NA |
|
isolated CHD: NA |
|
C0396 |
CNV |
NA |
|
isolated CHD: NA |
|
C0397 |
CNV |
NA |
|
isolated CHD: NA |
|
C0398 |
CNV |
NA |
|
isolated CHD: NA |
|
C0399 |
CNV |
NA |
|
isolated CHD: NA |
|
C0400 |
CNV |
NA |
|
isolated CHD: NA |
|
C0401 |
CNV |
NA |
|
isolated CHD: NA |
|
C0402 |
CNV |
NA |
|
isolated CHD: NA |
|
C0403 |
CNV |
NA |
|
isolated CHD: NA |
|
C0404 |
CNV |
NA |
|
isolated CHD: NA |
|
C0405 |
CNV |
NA |
|
isolated CHD: NA |
|
C0406 |
CNV |
NA |
|
isolated CHD: NA |
|
C0407 |
CNV |
NA |
|
isolated CHD: NA |
|
C0408 |
CNV |
NA |
|
isolated CHD: NA |
|
C0409 |
CNV |
NA |
|
isolated CHD: NA |
|
C0410 |
CNV |
NA |
|
isolated CHD: NA |
|
C0411 |
CNV |
NA |
|
isolated CHD: NA |
|
C0412 |
CNV |
NA |
|
isolated CHD: NA |
|
C0413 |
CNV |
NA |
|
isolated CHD: NA |
|
C0414 |
CNV |
NA |
|
isolated CHD: NA |
|
C0415 |
CNV |
NA |
|
isolated CHD: NA |
|
C0416 |
CNV |
NA |
|
isolated CHD: NA |
|
C0417 |
CNV |
NA |
NA |
isolated CHD: NA |
|
C0418 |
CNV |
BMP5 |
|
isolated CHD: VSD |
|
C0419 |
CNV |
MYH11, NDE1 |
|
isolated CHD: VSD |
|
C0420 |
CNV |
ATP2C2, WFDC1 |
|
isolated CHD: VSD |
|
C0421 |
CNV |
ACOX3, C4orf23, HTRA3, SH3TC1 |
|
non-isolated CHD: VSD, ASD |
|
C0422 |
CNV |
CACNG3, CHP2, PLK1, PRKCB, XYLT1 |
|
non-isolated CHD: VSD, ASD |
|
C0423 |
CNV |
XKRX |
|
non-isolated CHD: VSD, ASD, PDA, PAH |
|
C0424 |
CNV |
NBEA |
|
non-isolated CHD: VSD, PDA, PFO |
|
C0425 |
CNV |
MAGEC1, MAGEC2, MAGEC3 |
|
non-isolated CHD: VSD, PDA, PFO |
|
C0426 |
CNV |
KIF16B |
|
isolated CHD: VSD |
|
C0427 |
CNV |
OCA2 |
|
isolated CHD: VSD |
|
C0428 |
CNV |
MCTP2 |
|
isolated CHD: VSD |
|
C0429 |
CNV |
XRCC5 |
|
isolated CHD: VSD |
|
C0430 |
CNV |
AOAH |
|
isolated CHD: VSD |
|
C0431 |
CNV |
C14orf184, CATSPERB |
|
isolated CHD: VSD |
|
C0432 |
CNV |
RGS21 |
|
isolated CHD: VSD |
|
C0433 |
CNV |
EN1 |
|
non-isolated CHD: VSD, PFO, PAH |
|
C0434 |
CNV |
CALN1 |
|
isolated CHD: VSD |
|
C0435 |
CNV |
FRMD3, RASEF |
|
non-isolated CHD: ASD, PS |
|
C0436 |
CNV |
AASS, CADPS2, FEZF1, PTPRZ1 |
|
isolated CHD: VSD |
|
C0437 |
CNV |
FAM3B, MX2, MX1 |
|
isolated CHD: VSD |
|
C0438 |
CNV |
EGFL6 |
|
non-isolated CHD: VSD, PDA, ASD, PFO |
|
C0439 |
CNV |
IGFBP7, LOC255130 |
|
isolated CHD: VSD |
|
C0440 |
CNV |
COG8, CYB5B, NIP7, PDF, SNTB2, TERF2, TMED6, VPS4A |
|
isolated CHD: TGA |
|
C0441 |
CNV |
LBX1 |
|
isolated CHD: VSD |
|
C0442 |
CNV |
TBC1D23 |
|
isolated CHD: VSD |
|
C0443 |
CNV |
GOLGA4, C3ORF35, ITGA9 |
|
isolated CHD: ASD |
|
C0444 |
CNV |
SOX2, MAP3K13, BCL6, TP63, FGF12 |
|
isolated CHD: ASD |
|
C0445 |
CNV |
CASP3, ING2, PDLIM3, SLC25A4, F11 |
|
isolated CHD: ASD |
|
C0446 |
CNV |
PAX3 |
|
isolated CHD: VSD |
|
C0447 |
CNV |
KIAA2022, ABCB7 |
|
isolated CHD: VSD |
|
C0448 |
CNV |
CYSLTR1, GPR174, LPAR4, P2RY10 |
|
isolated CHD: VSD |
|
C0449 |
CNV |
CTD-(2272D18.1), RP11-(653B10.1), RP11-(731N10.1) |
|
isolated CHD: EA |
|
C0450 |
CNV |
MYOZ2, RP11-455G16.1, USP53 |
|
isolated CHD: EA |
|
C0451 |
CNV |
CYP4V2, F11, FAM149A, KLKB1 |
|
isolated CHD: EA |
|
C0452 |
CNV |
CTC-(551A13.2), WDR36 |
|
isolated CHD: EA |
|
C0453 |
CNV |
SLC35F1 |
|
isolated CHD: EA |
|
C0454 |
CNV |
RP11(307P5.1), RP11(307P5.2) |
|
isolated CHD: EA |
|
C0455 |
CNV |
CTD-(2272D18.1), RP11-(731N10.1) |
|
isolated CHD: EA |
|
C0456 |
CNV |
SPIDR |
|
isolated CHD: EA |
|
C0457 |
CNV |
CALHM1, CALHM2, PDCD11, RP11-(225H22.4), RP11(225H22.7) |
|
isolated CHD: EA |
|
C0458 |
CNV |
SORCS1 |
|
isolated CHD: EA |
|
C0459 |
CNV |
AP000439.1, AP000439.2, AP000439.3, AP000439.5 |
|
isolated CHD: EA |
|
C0460 |
CNV |
C2CD5, RP11(359J14.2) |
|
isolated CHD: EA |
|
C0461 |
CNV |
DIP2B |
|
isolated CHD: EA |
|
C0462 |
CNV |
NA |
|
isolated CHD: EA |
|
C0463 |
CNV |
KIF17 |
|
isolated CHD: EA |
|
C0464 |
CNV |
LMO7, RP11(29G8.3) |
|
isolated CHD: EA |
|
C0465 |
CNV |
C16orf72, RP11(473I1.10), RP11(473I1.5), RP11(473I1.6), RP11
(473I1.9); RP11(77H9.8); USP7 |
|
isolated CHD: EA |
|
C0466 |
CNV |
RP11(309M23.1) |
|
isolated CHD: EA |
|
C0467 |
CNV |
DUSP21, FUNDC1, KDM6A, RN7SL291P, RNU6-523P |
|
isolated CHD: EA |
|
C0468 |
CNV |
NA |
|
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 |
|
isolated CHD: RLBV |
|
C0486 |
CNV |
NA |
|
isolated CHD: RLBV |
|
C0487 |
CNV |
GJA5 |
|
isolated CHD: TOF |
|
C0488 |
CNV |
GJA5 |
|
isolated CHD: TOF |
|
C0489 |
CNV |
GJA5 |
|
isolated CHD: TOF |
|
C0490 |
CNV |
PRKD1,ATG5, AIM1, RTN4IP1,
QRSL1, C6orf203, BEND3 and PDSS2 |
|
non-isolated CHD: VSD, OA |
|
C0491 |
CNV |
NA |
NA |
isolated CHD: TOF |
|
C0492 |
CNV |
NA |
NA |
isolated CHD: PA/VSD |
|
C0493 |
CNV |
NA |
NA |
isolated CHD: PTA |
|
C0494 |
CNV |
NA |
NA |
isolated CHD: DORV |
|
C0495 |
CNV |
NA |
NA |
isolated CHD: TGA |
|
C0496 |
CNV |
NA |
NA |
isolated CHD: TA |
|
C0497 |
CNV |
NA |
NA |
isolated CHD: IAA |
|
C0498 |
CNV |
NA |
NA |
isolated CHD: SA/SV |
|
C0499 |
CNV |
NA |
NA |
isolated CHD: ASD |
|
C0500 |
CNV |
NA |
NA |
isolated CHD: TAPVC |
|
C0501 |
CNV |
NA |
NA |
isolated CHD: PAPVC |
|
C0502 |
CNV |
NA |
NA |
isolated CHD: SAS |
|
C0503 |
CNV |
NA |
NA |
isolated CHD: CoA |
|
C0504 |
CNV |
NA |
NA |
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 |
|
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 |
NA |
isolated CHD: ASD |
|
C0521 |
CNV |
N/A |
NA |
isolated CHD: ASD |
|
C0522 |
CNV |
N/A |
NA |
isolated CHD: Valvular AS |
|
C0523 |
CNV |
N/A |
NA |
isolated CHD: SVAS |
|
C0524 |
CNV |
N/A |
NA |
isolated CHD: SVAS |
|
C0525 |
CNV |
N/A |
NA |
isolated CHD: SVAS |
|
C0526 |
CNV |
N/A |
NA |
non-isolated CHD: SVAS, PPS |
|
C0527 |
CNV |
N/A |
NA |
non-isolated CHD: SVAS, PPS |
|
C0528 |
CNV |
N/A |
NA |
non-isolated CHD: SVAS, PPS |
|
C0529 |
CNV |
N/A |
NA |
isolated CHD: SVAS |
|
C0530 |
CNV |
N/A |
NA |
isolated CHD: SVAS |
|
C0531 |
CNV |
N/A |
NA |
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 |
NA |
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 |
NA |
isolated CHD: TOF |
|
C0656 |
CNV |
PRKAB2 |
NA |
isolated CHD: VSD |
|
C0657 |
CNV |
PPM1K |
NA |
isolated CHD: VSD |
