ID Type Gene/Location Detail CHD Type
V0025 Small Variation MTHFR NM_005957.5:c.677T>C isolated CHD: TGA
V0265 Small Variation GATA4 NM_002052.5:c.1037C>T isolated CHD: TGA
V0416 Small Variation GATA4 NM_002052.5:c.910-42G>A isolated CHD: TGA
V1055 Small Variation TBX1 NM_005992.1:c.928G>A isolated CHD: TGA
V1066 Small Variation CFC1 NM_032545.3:c.433G>A isolated CHD: TGA
V1067 Small Variation CFC1 NM_032545.3:c.461C>T isolated CHD: TGA
V1080 Small Variation CFC1 NM_032545.3:c.433G>A isolated CHD: TGA
V1081 Small Variation CFC1 NM_032545.3:c.461C>T isolated CHD: TGA
V1316 Small Variation GATA4 NM_001308093.1:c.531C>A isolated CHD: TGA
V1321 Small Variation GATA4 NM_001308093.1:c.1326G>A isolated CHD: TGA
V1329 Small Variation GATA4 NM_001308093.1:c.99G>T isolated CHD: TGA
V1330 Small Variation GATA4 NM_001308093.1:c.732C>T isolated CHD: TGA
V1334 Small Variation GATA4 NM_001308093.1:c.1138G>A isolated CHD: TGA
V1339 Small Variation GATA4 NM_001308093.1:c.799G>A isolated CHD: TGA
V1345 Small Variation GATA4 NM_001308093.1:c.487C>T isolated CHD: TGA
V1349 Small Variation GATA4 NM_001308093.1:c.1220C>A isolated CHD: TGA
V1356 Small Variation GATA4 NM_001308093.1:c.997+56C>A isolated CHD: TGA
V1362 Small Variation GATA4 NM_001308093.1:c.910-58T>A isolated CHD: TGA
V1368 Small Variation GATA4 NM_001308093.1:c.1146+23_1146+24insA isolated CHD: TGA
V1536 Small Variation TGFβ1 NM_000660.7:c.-1347T>C isolated CHD: TGA
V1761 Small Variation N/A NA isolated CHD: TGA
C0004 CNV NA chr1: g.144967972_146386972del isolated CHD: TGA
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
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
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
C0336 CNV PRPF4B, FAM217A, C6orf201, ECI2, RP3- 400B16.1, CDYL, RPP40 chr6: g.3983732_5004202del isolated CHD: TGA
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
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
C0440 CNV COG8, CYB5B, NIP7, PDF, SNTB2, TERF2, TMED6, VPS4A chr16: g.67868480_68086257del isolated CHD: TGA
C0495 CNV NA NA isolated CHD: TGA
C0505 CNV N/A chr1: g.180143425_180257907dup isolated CHD: TGA