|
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 |