|
V0014 |
Small Variation |
TGFβ2 |
NC_000001.11:g.218345083_218345086delCTTC |
isolated CHD: TOF |
|
V0015 |
Small Variation |
TGFβ2 |
NC_000001.11:g.218345173A>C |
isolated CHD: TOF |
|
V0016 |
Small Variation |
TGFβ2 |
NC_000001.11:g.218345400A>G |
isolated CHD: TOF |
|
V0040 |
Small Variation |
MS |
NA |
isolated CHD: TOF |
|
V0054 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: TOF |
|
V0061 |
Small Variation |
GATA4 |
NM_002052.5:c.216C>G |
isolated CHD: TOF |
|
V0083 |
Small Variation |
GATA4 |
NM_002052.5:c.462C>T |
isolated CHD: TOF |
|
V0088 |
Small Variation |
GATA4 |
NM_002052.5:c.822C>T |
isolated CHD: TOF |
|
V0089 |
Small Variation |
GATA4 |
NM_002052.5:c.1023T>C |
isolated CHD: TOF |
|
V0096 |
Small Variation |
GATA4 |
NM_002052.5:c.1273G>A |
isolated CHD: TOF |
|
V0101 |
Small Variation |
GATA4 |
NM_002052.5:c.354_355insGCC |
isolated CHD: TOF |
|
V0102 |
Small Variation |
GATA4 |
NM_002052.5:c.1220C>A |
isolated CHD: TOF |
|
V0130 |
Small Variation |
NKX2-5 |
NM_004387.4:N/A |
isolated CHD: TOF |
|
V0136 |
Small Variation |
GATA4 |
NM_002052.5:c.1220C>A |
isolated CHD: TOF |
|
V0162 |
Small Variation |
ALDH1A2 |
NM_003888.4:c.451G>T |
isolated CHD: TOF |
|
V0163 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: TOF |
|
V0184 |
Small Variation |
GATA6 |
NM_005257.5:c.799C>G |
isolated CHD: TOF |
|
V0199 |
Small Variation |
HAND2 |
NM_021973.3:c.32C>G |
isolated CHD: TOF |
|
V0203 |
Small Variation |
HAND2 |
NM_021973.3:c.107G>A |
isolated CHD: TOF |
|
V0208 |
Small Variation |
HAND2 |
NM_021973.3:c.-334C>T |
isolated CHD: TOF |
|
V0209 |
Small Variation |
HAND2 |
NM_021973.3:c.*869T>A |
isolated CHD: TOF |
|
V0247 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: TOF |
|
V0248 |
Small Variation |
GATA4 |
NM_002052.5:c.1220C>A |
isolated CHD: TOF |
|
V0249 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
isolated CHD: TOF |
|
V0250 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: TOF |
|
V0251 |
Small Variation |
GATA4 |
NM_002052.5:c.531C>A |
isolated CHD: TOF |
|
V0252 |
Small Variation |
HAND1 |
NM_004821.3:c.173C>A |
isolated CHD: TOF |
|
V0297 |
Small Variation |
NKX2-5 |
NM_004387.4:c.160G>A |
isolated CHD: TOF |
|
V0351 |
Small Variation |
PTPN11 |
NC_000012.12:g.112468611A>G |
isolated CHD: TOF |
|
V0352 |
Small Variation |
HEY2 |
NC_000006.12:g.124839101C>T |
isolated CHD: TOF |
|
V0353 |
Small Variation |
NKX2-5 |
NC_000005.10:g.173236451C>T |
isolated CHD: TOF |
|
V0354 |
Small Variation |
FGF10 |
NC_000005.10:g.44395913G>A |
isolated CHD: TOF |
|
V0355 |
Small Variation |
CRKL |
NC_000022.11:g.20961970G>C |
isolated CHD: TOF |
|
V0356 |
Small Variation |
GATA4 |
NC_000008.11:g.11750421C>T |
isolated CHD: TOF |
|
V0357 |
Small Variation |
PTPN11 |
NC_000012.12::g.112468611A>G |
isolated CHD: TOF |
|
V0380 |
Small Variation |
GJA5 |
NM_005266.6:c.793C>T |
isolated CHD: TOF |
|
V0412 |
Small Variation |
GATA4 |
NM_002052.5:c.531C>A |
isolated CHD: TOF |
|
V0415 |
Small Variation |
GATA4 |
NM_002052.5:c.910-58T>A |
isolated CHD: TOF |
|
V0433 |
Small Variation |
TFAP2B |
NM_003221.4:c.1006G>A |
isolated CHD: TOF |
|
V0442 |
Small Variation |
GATA6 |
NM_005257.5:c.1378G>T |
isolated CHD: TOF |
|
V0451 |
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: TOF |
|
V0480 |
Small Variation |
GATA6 |
NM_005257.5:c.1099G>T |
isolated CHD: TOF |
|
V0481 |
Small Variation |
GATA6 |
NM_005257.5:c.1180G>T |
isolated CHD: TOF |
|
V0487 |
Small Variation |
GATA5 |
NM_080473.5:c.559C>G |
isolated CHD: TOF |
|
V0496 |
Small Variation |
ZIC3 |
NM_003413.4:c.649C>G |
isolated CHD: TOF |
|
V0514 |
Small Variation |
GATA4 |
NM_001308093.1:c.448G>T |
isolated CHD: TOF |
|
V0517 |
Small Variation |
GATA4 |
NM_001308093.1:c.1057G>A |
isolated CHD: TOF |
|
V0551 |
Small Variation |
GATA4 |
NM_001308093.1:c.25G>C |
isolated CHD: TOF |
|
V0552 |
Small Variation |
GATA4 |
NM_001308093.1:c.151C>G |
isolated CHD: TOF |
|
V0554 |
Small Variation |
GATA4 |
NM_001308093.1:c.854A>G |
isolated CHD: TOF |
|
V0625 |
Small Variation |
TTN |
NM_001267550.2:c.98242C>T |
isolated CHD: TOF |
|
V0626 |
Small Variation |
BARX1 |
NM_021570.4:c.632C>T |
isolated CHD: TOF |
|
V0627 |
Small Variation |
TTN |
NM_001267550.2:c.64987C>T |
isolated CHD: TOF |
|
V0628 |
Small Variation |
EDN1 |
NM_001955.5:c.570T>G |
isolated CHD: TOF |
|
V0629 |
Small Variation |
MYOM2 |
NM_003970.4:c.590C>T |
isolated CHD: TOF |
|
V0630 |
Small Variation |
TP53BP2 |
NM_005426.2:c.919A>G |
isolated CHD: TOF |
|
V0631 |
Small Variation |
TTN |
NM_001267550.2:c.65047C>G |
isolated CHD: TOF |
|
V0632 |
Small Variation |
RCC1L |
NM_030798.5:c.43C>T |
isolated CHD: TOF |
|
V0633 |
Small Variation |
MYOM2 |
NM_003970.4:c.3904A>G |
isolated CHD: TOF |
|
V0634 |
Small Variation |
DAG1 |
NM_004393.6:c.359T>A |
isolated CHD: TOF |
|
V0635 |
Small Variation |
FMR1 |
NM_002024.5:c.1732C>T |
isolated CHD: TOF |
|
V0636 |
Small Variation |
PEX6 |
NM_000287.4:c.1718C>T |
isolated CHD: TOF |
|
V0637 |
Small Variation |
TTN |
NM_001267550.2:c.75035G>A |
isolated CHD: TOF |
|
V0638 |
Small Variation |
BCCIP |
NM_016567.4:c.902T>A |
isolated CHD: TOF |
|
V0639 |
Small Variation |
FANCL |
NM_001114636.1:c.685A>G |
isolated CHD: TOF |
|
V0640 |
Small Variation |
FOXK1 |
NM_001037165.2:c.2080G>A |
isolated CHD: TOF |
|
V0641 |
Small Variation |
PEX6 |
NM_000287.4:c.488G>C |
isolated CHD: TOF |
|
V0642 |
Small Variation |
TTN |
NM_001267550.2:c.9359G>A |
isolated CHD: TOF |
|
V0643 |
Small Variation |
TTN |
NM_001267550.2:c.98242C>T |
isolated CHD: TOF |
|
V0644 |
Small Variation |
DAG1 |
NM_004393.6:c.2151G>C |
isolated CHD: TOF |
|
V0645 |
Small Variation |
FANCL |
NM_001114636.1:c.112C>T |
isolated CHD: TOF |
|
V0646 |
Small Variation |
ELOA |
NM_003198.2:c.373C>T |
isolated CHD: TOF |
|
V0647 |
Small Variation |
EDN1 |
NM_001955.5:c.354G>C |
isolated CHD: TOF |
|
V0648 |
Small Variation |
ROCK1 |
NM_005406.3:c.2000A>T |
isolated CHD: TOF |
|
V0649 |
Small Variation |
TTN |
NM_001267550.2:c.49150A>C |
isolated CHD: TOF |
|
V0650 |
Small Variation |
TTN |
NM_001267550.2:c.52852C>T |
isolated CHD: TOF |
|
V0651 |
Small Variation |
MYOM2 |
NM_003970.4:c.2119G>A |
isolated CHD: TOF |
|
V0652 |
Small Variation |
TTN |
NM_001267550.2:c.30389G>A |
isolated CHD: TOF |
|
V0653 |
Small Variation |
TTN |
NM_001267550.2:c.100432T>G |
isolated CHD: TOF |
|
V0654 |
Small Variation |
FANCM |
NM_020937.4:c.3676G>A |
isolated CHD: TOF |
|
V0655 |
Small Variation |
FOXK1 |
NM_001037165.2:c.2080G>A |
isolated CHD: TOF |
|
V0656 |
Small Variation |
TP53BP2 |
NM_005426.2:c.1405G>A |
isolated CHD: TOF |
|
V0657 |
Small Variation |
BCCIP |
NM_016567.4:c.106G>A |
isolated CHD: TOF |
|
V0658 |
Small Variation |
FANCM |
NM_020937.4:c.5101C>T |
isolated CHD: TOF |
|
V0659 |
Small Variation |
HCN2 |
NM_001194.4:c.979C>T |
isolated CHD: TOF |
|
V0660 |
Small Variation |
MYOM2 |
NM_003970.4:c.3320G>C |
isolated CHD: TOF |
|
V0661 |
Small Variation |
ELOA |
NM_003198.2:c.1939G>A |
isolated CHD: TOF |
|
V0672 |
Small Variation |
GATA5 |
NM_080473.5:c.609C>G |
isolated CHD: TOF |
|
V0673 |
Small Variation |
GATA5 |
NM_080473.5:c.624C>A |
isolated CHD: TOF |
|
V0685 |
Small Variation |
DLC1 |
NM_006094.5:c.659C>T |
isolated CHD: TOF |
|
V0686 |
Small Variation |
DLC1 |
NM_006094.5:c.1051C>T |
isolated CHD: TOF |
|
V0689 |
Small Variation |
10p14 |
NC_000010.11:g.8919651G>A |
isolated CHD: TOF |
|
V0693 |
Small Variation |
NRP1 |
NM_003873.6:c.2197G>A |
isolated CHD: TOF |
|
V0697 |
Small Variation |
NRP1 |
NC_000010.11:g.33195901G>A |
isolated CHD: TOF |
|
V0701 |
Small Variation |
RPH3A |
NC_000012.12:g.112602139C>T |
isolated CHD: TOF |
|
V0705 |
Small Variation |
GPC5 |
NC_000013.11:g.92342256C>A |
isolated CHD: TOF |
|
V0709 |
Small Variation |
FMN1 |
NC_000015.10:g.32800761G>A |
isolated CHD: TOF |
|
V0711 |
Small Variation |
16q12.2 |
NC_000016.10:g.52797550T>C |
isolated CHD: TOF |
|
V0728 |
Small Variation |
GATA6 |
NM_005257.5:c.151G>A |
isolated CHD: TOF |
|
V0729 |
Small Variation |
GATA6 |
NM_005257.5:c.551G>A |
isolated CHD: TOF |
|
V0740 |
Small Variation |
NOS3 |
NM_000603.5:c.3106+11G>T |
isolated CHD: TOF |
|
V0759 |
Small Variation |
ZFPM2 |
NM_012082.4:c.2107A>C |
isolated CHD: TOF |
|
V0760 |
Small Variation |
ZFPM2 |
NM_012082.4:c.2528C>T |
isolated CHD: TOF |
|
V0772 |
Small Variation |
FOXA2 |
NM_153675.3:c.-2+4_-2+17del |
isolated CHD: TOF |
|
V0773 |
Small Variation |
FOXC2 |
NM_005251.3:c.583C>G |
isolated CHD: TOF |
|
V0774 |
Small Variation |
FOXC2 |
NM_005251.3:c.1331A>G |
isolated CHD: TOF |
|
V0775 |
Small Variation |
FOXH1 |
NM_003923.3:c.-543C>T |
isolated CHD: TOF |
|
V0776 |
Small Variation |
FOXH1 |
NM_003923.3:c.-333T>C |
isolated CHD: TOF |
|
V0777 |
Small Variation |
FOXH1 |
NM_003923.3:c.-136delC |
isolated CHD: TOF |
|
V0778 |
Small Variation |
FOXH1 |
NM_003923.3:c.-88_-76delTCAGGTCCCGGCC |
isolated CHD: TOF |
|
V0779 |
Small Variation |
FOXH1 |
NM_003923.3:c.338G>C |
isolated CHD: TOF |
|
V0780 |
Small Variation |
GATA4 |
NM_001308093.1:c.699G>A |
isolated CHD: TOF |
|
V0781 |
Small Variation |
GATA4 |
NM_001308093.1:c.909+25G>A |
isolated CHD: TOF |
|
V0782 |
Small Variation |
GATA4 |
NM_001308093.1:c.1037C>T |
isolated CHD: TOF |
|
V0783 |
Small Variation |
SMYD1 |
NM_006062.3:c.*2435C>T |
isolated CHD: TOF |
|
V0784 |
Small Variation |
FOXA2 |
NM_153675.3:c.280G>C |
isolated CHD: TOF |
|
V0785 |
Small Variation |
HAND2 |
NM_021973.3:c.75_76insGCCGCC |
isolated CHD: TOF |
|
V0786 |
Small Variation |
GATA4 |
NM_001308093.1:c.1164G>A |
isolated CHD: TOF |
|
V0787 |
Small Variation |
GATA4 |
NM_001308093.1:c.886G>A |
isolated CHD: TOF |
|
V0788 |
Small Variation |
TBX1 |
NM_005992.1:c.1074G>A |
isolated CHD: TOF |
|
V0789 |
Small Variation |
GATA4 |
NM_001308093.1:c.1012G>C |
isolated CHD: TOF |
|
V0790 |
Small Variation |
ISL1 |
NM_002202.3:c.219-3C>T |
isolated CHD: TOF |
|
V0791 |
Small Variation |
ISL1 |
NM_002202.3:c.*245A>G |
isolated CHD: TOF |
|
V0792 |
Small Variation |
ISL1 |
NM_002202.3:c.*651A>G |
isolated CHD: TOF |
|
V0793 |
Small Variation |
BOP/SMYD5 |
NM_006062.3:c.*140T>C |
isolated CHD: TOF |
|
V0794 |
Small Variation |
BOP/SMYD5 |
NM_006062.3:c.*271C>T |
isolated CHD: TOF |
|
V0795 |
Small Variation |
BOP/SMYD5 |
NM_006062.3:c.*699C>T |
isolated CHD: TOF |
|
V0796 |
Small Variation |
BOP/SMYD5 |
NM_006062.3:c.*2435C>T |
isolated CHD: TOF |
|
V0797 |
Small Variation |
FOXA2 |
NM_153675.3:c.565A>T |
isolated CHD: TOF |
|
V0798 |
Small Variation |
TBX20 |
NM_001077653.2:c.81C>T |
isolated CHD: TOF |
|
V0799 |
Small Variation |
TBX1 |
NM_005992.1:c.115G>A |
isolated CHD: TOF |
|
V0800 |
Small Variation |
TBX20 |
NM_001077653.2:c.364A>G |
isolated CHD: TOF |
|
V0801 |
Small Variation |
TBX1 |
NM_005992.1:c.129_185del57 |
isolated CHD: TOF |
|
V0802 |
Small Variation |
TBX1 |
NM_005992.1:c.11C>T |
isolated CHD: TOF |
|
V0803 |
Small Variation |
TBX1 |
NM_005992.1:c.1074G>A |
isolated CHD: TOF |
|
V0804 |
Small Variation |
FOXA2 |
NM_153675.3:c.872C>T |
isolated CHD: TOF |
|
V0805 |
Small Variation |
GATA4 |
NM_001308093.1:c.979G>C |
isolated CHD: TOF |
|
V0806 |
Small Variation |
FOXA2 |
NM_153675.3:c.1334A>G |
isolated CHD: TOF |
|
V0807 |
Small Variation |
FOXA2 |
NM_153675.3:c.471dupA |
isolated CHD: TOF |
|
V0808 |
Small Variation |
FOXC1 |
NM_001453.3:c.81_89delGCGGCGGCC |
isolated CHD: TOF |
|
V0809 |
Small Variation |
FOXC1 |
NM_001453.3:c.889C>T |
isolated CHD: TOF |
|
V0810 |
Small Variation |
FOXC1 |
NM_001453.3:c.1132_1140del |
isolated CHD: TOF |
|
V0811 |
Small Variation |
FOXC1 |
NM_001453.3:c.1462_1473del |
isolated CHD: TOF |
|
V0814 |
Small Variation |
NKX2-6 |
NM_001136271.2:c.527T>C |
isolated CHD: TOF |
|
V0820 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: TOF |
|
V0914 |
Small Variation |
NOTCH1 |
NM_017617.5:c.(598G>C) |
isolated CHD: TOF |
|
V0944 |
Small Variation |
VEGFA |
NC_000006.12:g.43768652A>C |
isolated CHD: TOF |
|
V0945 |
Small Variation |
VEGFA |
NC_000006.12:g.43769749C>T |
isolated CHD: TOF |
|
V0946 |
Small Variation |
VEGFA |
NC_000006.12:g.43770093A>G |
isolated CHD: TOF |
|
V0947 |
Small Variation |
VEGFA |
NC_000006.12:g.43770613C>G |
isolated CHD: TOF |
|
V0948 |
Small Variation |
VEGFA |
NM_003376.6:c.534C>T |
isolated CHD: TOF |
|
V0949 |
Small Variation |
VEGFA |
NC_000006.12:g.43774790G>A |
isolated CHD: TOF |
|
V0950 |
Small Variation |
VEGFA |
NC_000006.12:g.43784799C>T |
isolated CHD: TOF |
|
V0951 |
Small Variation |
VEGFA |
NC_000006.12:g.43785314C>T |
isolated CHD: TOF |
|
V0952 |
Small Variation |
VEGFA |
NC_000006.12:g.43785475A>G |
isolated CHD: TOF |
|
V0955 |
Small Variation |
GATA4 |
NM_002052.5:c.-543C>T |
isolated CHD: TOF |
|
V0959 |
Small Variation |
GATA4 |
NM_002052.5:c.-458+5G>A |
isolated CHD: TOF |
|
V0963 |
Small Variation |
GATA4 |
NM_002052.5:c.(642C>T) |
isolated CHD: TOF |
|
V0967 |
Small Variation |
GATA4 |
NM_002052.5:c.997+56C>A |
isolated CHD: TOF |
|
V0971 |
Small Variation |
GATA4 |
NM_002052.5:c.998-332T>G |
isolated CHD: TOF |
|
V0975 |
Small Variation |
GATA4 |
NM_002052.5:c.998-269G>T |
isolated CHD: TOF |
|
V0979 |
Small Variation |
GATA4 |
NM_002052.5:c.998-219G>T |
isolated CHD: TOF |
|
V0983 |
Small Variation |
GATA4 |
NM_002052.5:c.998-180delA |
isolated CHD: TOF |
|
V0987 |
Small Variation |
GATA4 |
NM_002052.5:c.998-128T>C |
isolated CHD: TOF |
|
V0991 |
Small Variation |
GATA4 |
NM_002052.5:c.998-115C>T |
isolated CHD: TOF |
|
V0995 |
Small Variation |
GATA4 |
NM_002052.5:c.998-107T>C |
isolated CHD: TOF |
|
V0999 |
Small Variation |
GATA4 |
NC_000008.11:g.11758186A>G |
isolated CHD: TOF |
|
V1003 |
Small Variation |
GATA4 |
NM_002052.5:c.1180C>A |
isolated CHD: TOF |
|
V1007 |
Small Variation |
GATA4 |
NM_002052.5:c.1273G>A |
isolated CHD: TOF |
|
V1011 |
Small Variation |
GATA4 |
NC_000008.11:g.11758992T>C |
isolated CHD: TOF |
|
V1015 |
Small Variation |
GATA4 |
NC_000008.11:g.11759007T>C |
isolated CHD: TOF |
|
V1019 |
Small Variation |
GATA4 |
NC_000008.11:g.11759038C>G |
isolated CHD: TOF |
|
V1023 |
Small Variation |
GATA4 |
NC_000008.11:g.11759731A>T |
isolated CHD: TOF |
|
V1027 |
Small Variation |
GATA4 |
NC_000008.11:g.11759996C>G |
isolated CHD: TOF |
|
V1036 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: TOF |
|
V1039 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: TOF |
|
V1054 |
Small Variation |
TBX1 |
NM_005992.1:c.928G>A |
isolated CHD: TOF |
|
V1071 |
Small Variation |
GATA4 |
NM_001308093.1:N/A |
isolated CHD: TOF |
|
V1106 |
Small Variation |
PITX2 |
NM_000325.6:c.305A>T |
isolated CHD: TOF |
|
V1107 |
Small Variation |
HAND2 |
NM_021973.3:c.140T>C |
isolated CHD: TOF |
|
V1115 |
Small Variation |
MESP1 |
NM_018670.3:c.310G>A |
isolated CHD: TOF |
|
V1116 |
Small Variation |
MESP1 |
NM_018670.3:c.359T>C |
isolated CHD: TOF |
|
V1205 |
Small Variation |
GATA5 |
NM_080473.5:c.496G>A |
isolated CHD: TOF |
|
V1210 |
Small Variation |
GATA5 |
NM_080473.5:c.56C>G |
isolated CHD: TOF |
|
V1214 |
Small Variation |
MIR196A2 |
NC_000012.12:g.53991815C>T |
isolated CHD: TOF |
|
V1215 |
Small Variation |
MIR146A |
NR_029701.1:n.60C>G |
isolated CHD: TOF |
|
V1229 |
Small Variation |
GATA4 |
NM_001308093.1:c.931C>T |
isolated CHD: TOF |
|
V1289 |
Small Variation |
HAND1 |
NM_004821.3:c.352C>T |
isolated CHD: TOF |
|
V1313 |
Small Variation |
GATA4 |
NM_001308093.1:c.531C>A |
isolated CHD: TOF |
|
V1318 |
Small Variation |
GATA4 |
NM_001308093.1:c.723C>T |
isolated CHD: TOF |
|
V1324 |
Small Variation |
GATA4 |
NM_001308093.1:c.99G>T |
isolated CHD: TOF |
|
V1331 |
Small Variation |
GATA4 |
NM_001308093.1:c.1138G>A |
isolated CHD: TOF |
|
V1335 |
Small Variation |
GATA4 |
NM_001308093.1:c.191G>A |
isolated CHD: TOF |
|
V1341 |
Small Variation |
GATA4 |
NM_001308093.1:c.1129A>G |
isolated CHD: TOF |
|
V1344 |
Small Variation |
GATA4 |
NM_002052.5:c.487C>T |
isolated CHD: TOF |
|
V1346 |
Small Variation |
GATA4 |
NM_001308093.1:c.1220C>A |
isolated CHD: TOF |
|
V1350 |
Small Variation |
GATA4 |
NM_001308093.1:c.196G>A |
isolated CHD: TOF |
|
V1351 |
Small Variation |
GATA4 |
NM_001308093.1:c.997+56C>A |
isolated CHD: TOF |
|
V1357 |
Small Variation |
GATA4 |
NM_001308093.1:c.910-58T>A |
isolated CHD: TOF |
|
V1363 |
Small Variation |
GATA4 |
NM_001308093.1:c.617-64G>C |
isolated CHD: TOF |
|
V1365 |
Small Variation |
GATA4 |
NM_001308093.1:c.1146+23_1146+24insA |
isolated CHD: TOF |
|
V1369 |
Small Variation |
GATA4 |
NC_000008.11:g.11750095G>A |
isolated CHD: TOF |
|
V1377 |
Small Variation |
ZFPM2 |
NM_012082.4:c.3014A>G |
isolated CHD: TOF |
|
V1381 |
Small Variation |
GATA6 |
NM_005257.5:c.972C>G |
isolated CHD: TOF |
|
V1382 |
Small Variation |
JAG1 |
NM_000214.3:c.3038A>T |
isolated CHD: TOF |
|
V1383 |
Small Variation |
GATA5 |
NM_080473.5:c.274G>T |
isolated CHD: TOF |
|
V1384 |
Small Variation |
JAG1 |
NM_000214.3:c.2906T>C |
isolated CHD: TOF |
|
V1389 |
Small Variation |
GATA6 |
NM_005257.5:c.331G>A |
isolated CHD: TOF |
|
V1422 |
Small Variation |
KCNH2 |
NM_000238.4:c.(1714G>A) |
isolated CHD: TOF |
|
V1435 |
Small Variation |
FIGN |
NC_000002.12:g.163641436C>G |
isolated CHD: TOF |
|
V1437 |
Small Variation |
TBX20 |
NM_001077653.2:c.820A>T |
isolated CHD: TOF |
|
V1496 |
Small Variation |
VEGFA |
NC_000006.12:g.[43768652A>C;43769749C>T;43770093A>G] |
isolated CHD: TOF |
|
V1497 |
Small Variation |
VEGFA |
NC_000006.12:g.[43770613C>G;43771240C>T;43774790G>A] |
isolated CHD: TOF |
|
V1554 |
Small Variation |
PTPN11 |
NC_000012.12:g.112468611A>G |
isolated CHD: TOF |
|
V1584 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: TOF |
|
V1645 |
Small Variation |
MIR196A2 |
NC_000012.12:g.53991815C>T |
isolated CHD: TOF |
|
V1646 |
Small Variation |
MIR146A |
NR_029701.1:n.60C>G |
isolated CHD: TOF |
|
V1653 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: TOF |
|
V1678 |
Small Variation |
VANGL2 |
NC_000001.11:g.160399582T>G |
isolated CHD: TOF |
|
V1679 |
Small Variation |
VANGL2 |
NC_000001.11:g.160400029T>G |
isolated CHD: TOF |
|
V1685 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: TOF |
|
V1688 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: TOF |
|
V1731 |
Small Variation |
NRP1 |
NC_000010.11:g.33177591T>C |
isolated CHD: TOF |
|
V1732 |
Small Variation |
NRP1 |
NC_000010.11:g.33178180G>A |
isolated CHD: TOF |
|
V1733 |
Small Variation |
NRP1 |
NC_000010.11:g.33178611A>G |
isolated CHD: TOF |
|
V1734 |
Small Variation |
NRP1 |
NC_000010.11:g.33178722G>A |
isolated CHD: TOF |
|
V1735 |
Small Variation |
NRP1 |
NM_003873.6:c.2197G>A |
isolated CHD: TOF |
|
V1736 |
Small Variation |
NRP1 |
NC_000010.11:g.33192550A>G |
isolated CHD: TOF |
|
V1737 |
Small Variation |
NRP1 |
NC_000010.11:g.33197034T>C |
isolated CHD: TOF |
|
V1738 |
Small Variation |
NRP1 |
NC_000010.11:g.33206339C>T |
isolated CHD: TOF |
|
V1739 |
Small Variation |
NRP1 |
NM_003873.6:c.1161C>T |
isolated CHD: TOF |
|
V1740 |
Small Variation |
NRP1 |
NM_003873.6:c.60C>T |
isolated CHD: TOF |
|
V1741 |
Small Variation |
NRP1 |
NC_000010.11:g.33335167C>T |
isolated CHD: TOF |
|
V1742 |
Small Variation |
NRP1 |
NC_000010.11:g.[33177591T>C;33178180G>A;33178611G>A;33178722G>A] |
isolated CHD: TOF |
|
V1743 |
Small Variation |
NRP1 |
NC_000010.11:g.[33192550A>G;33197034T>C] |
isolated CHD: TOF |
|
V1744 |
Small Variation |
NRP1 |
NC_000010.11:g.[33206339C>T;33221840G>A] |
isolated CHD: TOF |
|
V1745 |
Small Variation |
NRP1 |
NC_000010.11:g.[33334323G>A;33335167C>T] |
isolated CHD: TOF |
|
V1757 |
Small Variation |
N/A |
NA |
isolated CHD: TOF |
|
V1762 |
Small Variation |
N/A |
NA |
isolated CHD: TOF |
|
V1765 |
Small Variation |
NKX2-5 |
NM_004387.4:c.73C>T |
isolated CHD: TOF |
|
V1783 |
Small Variation |
NKX2-5 |
NM_004387.4:c.351G>C |
isolated CHD: TOF |
|
V1784 |
Small Variation |
TBX20 |
NM_001077653.2:c.1006T>A |
isolated CHD: TOF |
|
V1791 |
Small Variation |
MIR138-2 |
NC_000016.10:g.56858519G>T |
isolated CHD: TOF |
|
V1792 |
Small Variation |
NACA |
NM_001365896.1:c.3848A>C |
isolated CHD: TOF |
|
V1793 |
Small Variation |
PCDHB4 |
NM_018938.4:c.1597T>A |
isolated CHD: TOF |
|
V1794 |
Small Variation |
PEX5 |
NM_001131023.1:c.178G>C |
isolated CHD: TOF |
|
V1795 |
Small Variation |
PRR21 |
NC_000002.12:g.240042663C>T |
isolated CHD: TOF |
|
V1796 |
Small Variation |
CTBP1 |
NC_000004.12:g.1237208A>T |
isolated CHD: TOF |
|
V1797 |
Small Variation |
FAM47C |
NM_001013736.2:c.2146G>C |
isolated CHD: TOF |
|
V1798 |
Small Variation |
UBXN11 |
NM_183008.2:c.1510G>T |
isolated CHD: TOF |
|
V1799 |
Small Variation |
ODF2L |
NM_001007022.3:c.1093A>G |
isolated CHD: TOF |
|
V1800 |
Small Variation |
DSPP |
NM_014208.3:c.2206G>A |
isolated CHD: TOF |
|
V1801 |
Small Variation |
DSPP |
NM_014208.3:c.2215A>G |
isolated CHD: TOF |
|
V1802 |
Small Variation |
PKD2 |
NM_000297.4:c.568G>A |
isolated CHD: TOF |
|
V1803 |
Small Variation |
KRTAP5-7 |
NM_001012503.2:c.293A>G |
isolated CHD: TOF |
|
V1804 |
Small Variation |
CELA1 |
NC_000012.12:g.51346625T>G |
isolated CHD: TOF |
|
V1805 |
Small Variation |
ACAN |
NM_013227.3:c.4207A>G |
isolated CHD: TOF |
|
V1806 |
Small Variation |
ESX1 |
NM_153448.4:c.940A>C |
isolated CHD: TOF |
|
V1807 |
Small Variation |
BAGE5 |
NC_000013.11:g.11068057A>T |
isolated CHD: TOF |
|
V1808 |
Small Variation |
POU3F3 |
NM_006236.3:c.589_591delGCC |
isolated CHD: TOF |
|
V1809 |
Small Variation |
ATXN2 |
NC_000012.12:g.111598972_111598973insTGT |
isolated CHD: TOF |
|
V1810 |
Small Variation |
N/A |
NC_000004.12:g.13632183delT |
isolated CHD: TOF |
|
V1811 |
Small Variation |
GPSM1 |
NC_000009.12:g.136327352_136327358delCCCCCTC |
isolated CHD: TOF |
|
V1812 |
Small Variation |
MYO15B |
NM_001309242.1:c.6065_6067delAGG |
isolated CHD: TOF |
|
V1813 |
Small Variation |
OR7E24 |
NM_001079935.1:c.32delT |
isolated CHD: TOF |
|
V1814 |
Small Variation |
SPACA6P |
NM_001316972.1:c.214+336_214+337insAG |
isolated CHD: TOF |
|
V1815 |
Small Variation |
PDHA1 |
NM_000284.4:c.57+1652delC |
isolated CHD: TOF |
|
V1850 |
Small Variation |
MTHFD1 |
NM_005956.4:c.1958G>A |
isolated CHD: TOF |
|
V1853 |
Small Variation |
NOS3 |
NM_000603.5:c.894T>G |
isolated CHD: TOF |
|
V1856 |
Small Variation |
ACE |
NM_000789.4:c.2350G>A |
isolated CHD: TOF |
|
V2122 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: TOF |
|
V2123 |
Small Variation |
NKX2-5 |
NC_000005.9:g.172662041G>A |
isolated CHD: TOF |
|
V2124 |
Small Variation |
NKX2-5 |
NC_000005.10:g.173235126G>T |
isolated CHD: TOF |
|
V2125 |
Small Variation |
NKX2-5 |
NC_000005.10:g.173235189T>C |
isolated CHD: TOF |
|
V2126 |
Small Variation |
NKX2-5 |
NC_000005.9:g.172659740C>G |
isolated CHD: TOF |
|
V2127 |
Small Variation |
NKX2-5 |
NC_000005.9:g.172661873G>A |
isolated CHD: TOF |
|
V2193 |
Small Variation |
KCNH2 |
NM_000238.4:c.1696T>C |
isolated CHD: TOF |
|
V2196 |
Small Variation |
RIPPLY3 |
NM_018962.3:c.89C>T |
isolated CHD: TOF |
|
V2197 |
Small Variation |
TBX1 |
NM_080647.1:c.1189A>C |
isolated CHD: TOF |
|
V2198 |
Small Variation |
RIPPLY3 |
NM_018962.3:c.155C>G |
isolated CHD: TOF |
|
V2208 |
Small Variation |
NKX2-5 |
NM_004387.4:c.907G>A |
isolated CHD: TOF |
|
V2212 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: TOF |
|
V2222 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
isolated CHD: TOF |
|
V2264 |
Small Variation |
NOTCH1 |
NC_000009.12 :31 variants |
isolated CHD: TOF |
|
V2265 |
Small Variation |
FLT4 |
NC_000005.10:22 variants |
isolated CHD: TOF |
|
V2266 |
Small Variation |
RYR1 |
NC_000019.10:21 variants |
isolated CHD: TOF |
|
V2267 |
Small Variation |
TBX1 |
NC_000022.11:8 variants |
isolated CHD: TOF |
|
V2268 |
Small Variation |
ZFPM1 |
NC_000016.10:11 variants |
isolated CHD: TOF |
|
V2269 |
Small Variation |
ZNF717 |
NC_000003.12 :9 variants |
isolated CHD: TOF |
|
V2270 |
Small Variation |
DLX6 |
NC_000007.14:7 variants |
isolated CHD: TOF |
|
V2271 |
Small Variation |
PCM1 |
NC_000008.11:11 variants |
isolated CHD: TOF |
|
V2272 |
Small Variation |
CAMTA2 |
NC_000017.11:9 variants |
isolated CHD: TOF |
|
V2286 |
Small Variation |
AXIN2 |
NM_004655.4:c.28C>T |
isolated CHD: TOF |
|
V2310 |
Small Variation |
TBX1 |
NM_005992.1:c.1010-5255G>C |
isolated CHD: TOF |
|
V2318 |
Small Variation |
GATA4 |
NM_002052.5:c.617-17947C>T |
isolated CHD: TOF |
|
V2339 |
Small Variation |
GDF1 |
NM_001492.6:c.-1841T>G |
isolated CHD: TOF |
|
V2351 |
Small Variation |
EDNRA |
NC_000004.12:g.147459653T>C |
isolated CHD: TOF |
|
V2356 |
Small Variation |
SMARCA2 |
NC_000009.12:g.2210993C>T |
isolated CHD: TOF |
|
V2361 |
Small Variation |
N/A |
NC_000012.12:g.114854163A>G |
isolated CHD: TOF |
|
V2366 |
Small Variation |
PTPRT |
NC_000020.11:g.42807024T>C |
isolated CHD: TOF |
|
V2371 |
Small Variation |
CITED2 |
NM_006079.5:c.418C>T |
isolated CHD: TOF |
|
V2398 |
Small Variation |
GATA5 |
NM_080473.5:c.569T>C |
isolated CHD: TOF |
|
V2399 |
Small Variation |
GATA5 |
NM_080473.5:c.667A>C |
isolated CHD: TOF |
|
V2412 |
Small Variation |
CBS |
NC_000021.9:g.43076866C>G |
isolated CHD: TOF |
|
V2454 |
Small Variation |
FOXH1 |
NM_003923.3:c.232A>G |
isolated CHD: TOF |
|
V2465 |
Small Variation |
CITED2 |
NM_006079.5:c.-64C>T |
isolated CHD: TOF |
|
V2471 |
Small Variation |
GATA4 |
NM_002052.5:c.487C>T |
isolated CHD: TOF |
|
V2477 |
Small Variation |
BVES |
NM_147147.3:c.407G>A |
isolated CHD: TOF |
|
V2478 |
Small Variation |
BVES |
NM_147147.3:c.195T>C |
isolated CHD: TOF |
|
V2479 |
Small Variation |
BVES |
NM_147147.3:c.385C>T |
isolated CHD: TOF |
|
V2480 |
Small Variation |
BVES |
NM_147147.3:c.1068C>T |
isolated CHD: TOF |
|
C0002 |
CNV |
NA |
chr1: g.144106312_145848312dup |
isolated CHD: TOF |
|
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 |
|
C0031 |
CNV |
Gene empty region |
NA |
isolated CHD: TOF |
|
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 |
|
C0153 |
CNV |
NA |
NA |
isolated CHD: TOF |
|
C0186 |
CNV |
NA |
NA |
isolated CHD: TOF |
|
C0187 |
CNV |
NA |
NA |
isolated CHD: TOF |
|
C0188 |
CNV |
NA |
NA |
isolated CHD: TOF |
|
C0194 |
CNV |
CCDC127,
LRRC14B,
PLEKHG4B, SDHA |
chr5: g.136464_232969dup |
isolated CHD: TOF |
|
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 |
|
C0208 |
CNV |
TIMM9, TOMM20L |
|
isolated CHD: TOF |
|
C0209 |
CNV |
LIN52 |
|
isolated CHD: TOF |
|
C0215 |
CNV |
GJA5 |
|
isolated CHD: TOF |
|
C0217 |
CNV |
TOP2A |
|
isolated CHD: TOF |
|
C0218 |
CNV |
EIF1 |
|
isolated CHD: TOF |
|
C0221 |
CNV |
TBX1 |
|
isolated CHD: TOF |
|
C0222 |
CNV |
NA |
|
isolated CHD: TOF |
|
C0229 |
CNV |
BTD, HACL1 |
|
isolated CHD: TOF |
|
C0247 |
CNV |
NA |
NA |
isolated CHD: TOF |
|
C0248 |
CNV |
NA |
NA |
isolated CHD: TOF |
|
C0249 |
CNV |
NA |
NA |
isolated CHD: TOF |
|
C0264 |
CNV |
NA |
NA |
isolated CHD: TOF |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
C0487 |
CNV |
GJA5 |
|
isolated CHD: TOF |
|
C0488 |
CNV |
GJA5 |
|
isolated CHD: TOF |
|
C0489 |
CNV |
GJA5 |
|
isolated CHD: TOF |
|
C0491 |
CNV |
NA |
NA |
isolated CHD: TOF |
|
C0508 |
CNV |
ITGB1, NRP1, PARD3 |
chr10: g.32686908_34498716del |
isolated CHD: TOF |
|
C0509 |
CNV |
ITGB1, NRP1, PARD3 |
chr10: g.32686908_34498716del |
isolated CHD: TOF |
|
C0532 |
CNV |
NBPF15, NBPF16, PPIAL4E, PPIAL4D, PPIAL4F, LOC645166, LOC388692, FCGR1C, HIST2H2BF, PPIAL4A, PPIAL4C, PPIAL4B, FAM91A2, LOC728855 |
GRCh37 chr1: g.148515220_149741175dup |
isolated CHD: TOF |
|
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 |
|
C0553 |
CNV |
HERC2P4, LOC729264, LOC390705, TP53TG3B, TP53TG3, TP53TG3C, SLC6A10P, RNU6-76 |
GRCh37 chr16: g.32046521_33783272dup |
isolated CHD: TOF |
|
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 |
|
C0562 |
CNV |
KANSL1, KANSL1-AS1, LRRC37A, ARL17A, ARL17B, NSFP1, LRRC37A2, NSF |
GRCh37 chr17: g.44187491_44784639dup |
isolated CHD: TOF |
|
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 |
|
C0579 |
CNV |
ATRNL1 |
GRCh37 chr10: g.117108537_117433657del |
isolated CHD: TOF |
|
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 |
|
C0599 |
CNV |
26 genes |
GRCh37 chr19: g.16517519_17477318del |
isolated CHD: TOF |
|
C0655 |
CNV |
PRKAB2 |
NA |
isolated CHD: TOF |