|
C0001 |
CNV |
NA |
NA |
non-isolated CHD: PAS, PDA |
|
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 |
|
C0014 |
CNV |
TMEM130, TRRAP, SMURF1 |
NA |
isolated CHD: AC |
|
C0017 |
CNV |
SPOCK3, ANXA10 |
NA |
non-isolated CHD: VSD, PDA |
|
C0018 |
CNV |
NA |
NA |
isolated CHD: PS |
|
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 |
|
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 |
|
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 |
|
C0119 |
CNV |
SMC1A, RJBC1, IQSEC2, HSD17B10 |
NA |
isolated CHD: DOA |
|
C0120 |
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: other |
|
C0135 |
CNV |
OR6S1, ANG, RNASE4 |
NA |
non-isolated CHD: LS-CHD, other |
|
C0136 |
CNV |
OR6S1, ANG, RNASE4 |
NA |
isolated CHD: LS-CHD |
|
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 |
|
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 |
|
C0154 |
CNV |
NA |
NA |
non-isolated CHD: TOF, PDA/PA, PDA |
|
C0155 |
CNV |
NA |
NA |
non-isolated CHD: TOF, MAPCA/PA, MAPCA |
|
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 |
|
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 |
|
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 |
|
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 |
|
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, APVS |
|
C0208 |
CNV |
TIMM9, TOMM20L |
chr14: g.58860893_58881694del |
isolated CHD: TOF |
|
C0209 |
CNV |
LIN52 |
chr14: g.74551632_74551731dup |
isolated CHD: TOF |
|
C0212 |
CNV |
CYFIP1 |
chr15: g.22750305_23228712del |
non-isolated CHD: TOF, PA |
|
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 |
|
C0226 |
CNV |
PCBP1 |
chr2: g.70168995_70359345del |
non-isolated CHD: TOF, PA |
|
C0229 |
CNV |
BTD, HACL1 |
chr3: g.15637812_15643461dup |
isolated CHD: TOF |
|
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 |
|
C0250 |
CNV |
NA |
NA |
isolated CHD: TAPVR |
|
C0251 |
CNV |
NA |
NA |
isolated CHD: TAPVR |
|
C0252 |
CNV |
NA |
NA |
isolated CHD: TA |
|
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 |
|
C0265 |
CNV |
NA |
NA |
isolated CHD: TA |
|
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 |
|
C0307 |
CNV |
CDK13 |
chr7: g.40027276_40136317dup |
isolated CHD: CoA |
|
C0318 |
CNV |
NUP160, PTPRJ, OR4B1, OR4X2, OR4X1, OR4S1, OR4C3 |
chr11: g.47870014_48347382dup |
isolated CHD: CoA |
|
C0329 |
CNV |
NFATC3, ESRP2, MIR6773, PLA2G15 |
chr16: g.68170552_68294429dup |
isolated CHD: CoA |
|
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 |
|
C0344 |
CNV |
SLC8A1 |
chr2: g.40629779_40644779del |
isolated CHD: ccTGA |
|
C0345 |
CNV |
CCDC141 |
chr2: g.179853465_179884465del |
isolated CHD: ccTGA |
|
C0350 |
CNV |
NKX1-2, OAT |
chr10: g.126100523_126163523del |
isolated CHD: ccTGA |
|
C0351 |
CNV |
IQCJ-SCHIP1, SCHIP1 |
chr3: g.158993239_159493239dup |
isolated CHD: 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 |
|
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 |
|
C0433 |
CNV |
EN1 |
chr2: g.119275149_119375870dup |
non-isolated CHD: VSD, PFO, PAH |
|
C0435 |
CNV |
FRMD3, RASEF |
chr9: g.84859691_85387778del |
non-isolated CHD: ASD, PS |
|
C0438 |
CNV |
EGFL6 |
chrX: g.13472898_13530787del |
non-isolated CHD: VSD, PDA, ASD, PFO |
|
C0440 |
CNV |
COG8, CYB5B, NIP7, PDF, SNTB2, TERF2, TMED6, VPS4A |
chr16: g.67868480_68086257del |
isolated CHD: TGA |
|
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 |
|
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 |
|
C0485 |
CNV |
NA |
chr8: g.186477_2909002del |
isolated CHD: RLBV |
|
C0486 |
CNV |
NA |
chr8: g.2441865_13981255dup |
isolated CHD: RLBV |
|
C0490 |
CNV |
PRKD1,ATG5, AIM1, RTN4IP1,
QRSL1, C6orf203, BEND3 and PDSS2 |
chr6: g.106082956_107737955del |
non-isolated CHD: TA, SV SD with OA |
|
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 |
|
C0510 |
CNV |
REPS2, NHS, MIR4768 |
chrXp22.2-p22.13: g.16985921_17729022dup |
isolated CHD: LC-RV fistula |
|
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 |