|
V0025 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: TGA |
|
V0232 |
Small Variation |
GATA4 |
NM_002052.5:c.487C>T |
isolated CHD: TGA |
|
V0265 |
Small Variation |
GATA4 |
NM_002052.5:c.1037C>T |
isolated CHD: TGA |
|
V0270 |
Small Variation |
NKX2-5 |
NC_000005.10:g.173232508C>A |
isolated CHD: TGA |
|
V0271 |
Small Variation |
GATA4 |
NM_002052.5:c.783+51G>A |
isolated CHD: TGA |
|
V0272 |
Small Variation |
GATA4 |
NM_002052.5:c.997+56C>A |
isolated CHD: TGA |
|
V0273 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: TGA |
|
V0276 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: TGA |
|
V0277 |
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD: TGA |
|
V0416 |
Small Variation |
GATA4 |
NM_002052.5:c.910-42G>A |
isolated CHD: TGA |
|
V0455 |
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: TGA |
|
V0615 |
Small Variation |
TGFβ1 |
NM_000660.7:c.-1347T>C |
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_002052.5: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 |
|
V1424 |
Small Variation |
KCNH2 |
NM_000238.4:c.(3106_3126del) |
isolated CHD: TGA |
|
V1535 |
Small Variation |
TGFβ1 |
NM_000660.7:c.-1347T>C |
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 |
|
V2450 |
Small Variation |
FOXH1 |
NM_003923.3:c.205T>C |
isolated CHD: TGA |
|
V2451 |
Small Variation |
FOXH1 |
NM_003923.3:c.206T>C |
isolated CHD: TGA |
|
V2452 |
Small Variation |
FOXH1 |
NM_003923.3:c.209T>C |
isolated CHD: TGA |
|
C0004 |
CNV |
NA |
chr1: g.144967972_146386972del |
isolated CHD: TGA |
|
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 |
|
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 |
|
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 |
|
C0336 |
CNV |
PRPF4B, FAM217A, C6orf201, ECI2, RP3-
400B16.1, CDYL, RPP40 |
|
isolated CHD: TGA |
|
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 |
|
C0351 |
CNV |
IQCJ-SCHIP1, SCHIP1 |
|
isolated CHD: 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 |
|
C0440 |
CNV |
COG8, CYB5B, NIP7, PDF, SNTB2, TERF2, TMED6, VPS4A |
|
isolated CHD: TGA |
|
C0495 |
CNV |
NA |
NA |
isolated CHD: TGA |
|
C0505 |
CNV |
N/A |
chr1: g.180143425_180257907dup |
isolated CHD: TGA |