|
V0182 |
Small Variation |
ISL1 |
NM_002202.3:c.*651A>T |
NA: NA, AVR |
|
V0200 |
Small Variation |
HAND2 |
NM_021973.3:c.*869T>A |
isolated CHD: PS |
|
V0201 |
Small Variation |
HAND2 |
NM_021973.3:c.*869T>A |
isolated CHD: DORV |
|
V0202 |
Small Variation |
HAND2 |
NM_021973.3:c.*869T>A |
isolated CHD: PS |
|
V0209 |
Small Variation |
HAND2 |
NM_021973.3:c.*869T>A |
isolated CHD: TOF |
|
V0212 |
Small Variation |
HAND2 |
NM_021973.3:c.*608G>A |
NA: NA |
|
V0270 |
Small Variation |
NKX2-5 |
NC_000005.10:g.173232508C>A |
isolated CHD: TGA |
|
V0274 |
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD: HLHS |
|
V0279 |
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD: HLHS |
|
V0347 |
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: NA/LSOD/SD/PDA/other |
|
V0422 |
Small Variation |
GATA4 |
NM_002052.5:c.1329+84C>T |
isolated CHD: VSD |
|
V0425 |
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD: PDA |
|
V0548 |
Small Variation |
MTR |
NM_000254.2:c.*905G>A |
NA: NA |
|
V0572 |
Small Variation |
SMAD7 |
NM_005904.3:c.1281+23G>A |
isolated CHD: NA |
|
V0609 |
Small Variation |
ISL1 |
NM_002202.3:c.*539G>T |
isolated CHD: ASD/VSD |
|
V0610 |
Small Variation |
ISL1 |
NM_002202.3:c.*651A>T |
isolated CHD: ASD/VSD |
|
V0679 |
Small Variation |
DLC1 |
NM_006094.5:c.4533C>G |
isolated CHD: VSD |
|
V0718 |
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: ASD |
|
V0719 |
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: VSD |
|
V0720 |
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
NA: NA |
|
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 |
|
V0869 |
Small Variation |
EPRS |
NM_004446.3:c.*125G>A |
NA: Septa and valve abnormalities |
|
V0880 |
Small Variation |
RARS |
NM_002887.4:c.*66C>A |
NA: Septa and valve abnormalities |
|
V0881 |
Small Variation |
IARS |
NM_002161.5:c.*173A>T |
NA: Septa and valve abnormalities |
|
V0886 |
Small Variation |
EPRS |
NM_004446.3:c.*125G>A |
isolated CHD: ASD |
|
V0887 |
Small Variation |
EPRS |
NM_004446.3:c.*125G>A |
isolated CHD: VSD |
|
V0888 |
Small Variation |
EPRS |
NM_004446.3:c.*125G>A |
non-isolated CHD: ASD, VSD |
|
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 |
|
V1009 |
Small Variation |
GATA4 |
NC_000008.11:g.11758992T>C |
isolated CHD: ASD |
|
V1010 |
Small Variation |
GATA4 |
NC_000008.11:g.11758992T>C |
isolated CHD: VSD |
|
V1011 |
Small Variation |
GATA4 |
NC_000008.11:g.11758992T>C |
isolated CHD: TOF |
|
V1012 |
Small Variation |
GATA4 |
NC_000008.11:g.11758992T>C |
isolated CHD: SV |
|
V1013 |
Small Variation |
GATA4 |
NC_000008.11:g.11759007T>C |
isolated CHD: ASD |
|
V1014 |
Small Variation |
GATA4 |
NC_000008.11:g.11759007T>C |
isolated CHD: VSD |
|
V1015 |
Small Variation |
GATA4 |
NC_000008.11:g.11759007T>C |
isolated CHD: TOF |
|
V1016 |
Small Variation |
GATA4 |
NC_000008.11:g.11759007T>C |
isolated CHD: SV |
|
V1017 |
Small Variation |
GATA4 |
NC_000008.11:g.11759038C>G |
isolated CHD: ASD |
|
V1018 |
Small Variation |
GATA4 |
NC_000008.11:g.11759038C>G |
isolated CHD: VSD |
|
V1019 |
Small Variation |
GATA4 |
NC_000008.11:g.11759038C>G |
isolated CHD: TOF |
|
V1020 |
Small Variation |
GATA4 |
NC_000008.11:g.11759038C>G |
isolated CHD: SV |
|
V1021 |
Small Variation |
GATA4 |
NC_000008.11:g.11759731A>T |
isolated CHD: ASD |
|
V1022 |
Small Variation |
GATA4 |
NC_000008.11:g.11759731A>T |
isolated CHD: VSD |
|
V1023 |
Small Variation |
GATA4 |
NC_000008.11:g.11759731A>T |
isolated CHD: TOF |
|
V1024 |
Small Variation |
GATA4 |
NC_000008.11:g.11759731A>T |
isolated CHD: SV |
|
V1025 |
Small Variation |
GATA4 |
NC_000008.11:g.11759996C>G |
isolated CHD: ASD |
|
V1026 |
Small Variation |
GATA4 |
NC_000008.11:g.11759996C>G |
isolated CHD: VSD |
|
V1027 |
Small Variation |
GATA4 |
NC_000008.11:g.11759996C>G |
isolated CHD: TOF |
|
V1028 |
Small Variation |
GATA4 |
NC_000008.11:g.11759996C>G |
isolated CHD: SV |
|
V1044 |
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD: ASD |
|
V1048 |
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD: VSD |
|
V1085 |
Small Variation |
POU5F1 |
NC_000006.12:g.31164060A>T |
isolated CHD: NA |
|
V1089 |
Small Variation |
POU5F1 |
NC_000006.12:g.31164060A>T |
isolated CHD: NA |
|
V1157 |
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD/non-isolated CHD: NA |
|
V1158 |
Small Variation |
NKX2-5 |
NM_004387.4:c.1433A>G |
isolated CHD/non-isolated CHD: NA |
|
V1212 |
Small Variation |
GATA4 |
NC_000008.11:g.11759633C>T |
isolated CHD/non-isolated CHD: NA |
|
V1213 |
Small Variation |
GATA4 |
NC_000008.11:g.11759996C>G |
isolated CHD/non-isolated CHD: NA |
|
V1216 |
Small Variation |
ACTC1 |
NM_005159.5:c.1784T>C |
isolated CHD: ASDII |
|
V1235 |
Small Variation |
NFATC1 |
NC_000018.10:g.79528806T>C |
isolated CHD/non-isolated CHD: NA |
|
V1251 |
Small Variation |
FGFR1 |
NC_000008.11:g.38411996T>C |
isolated CHD/non-isolated CHD: NA |
|
V1489 |
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD: ASD |
|
V1493 |
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD: VSD |
|
V1522 |
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
NA: NA |
|
V1523 |
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: VSD |
|
V1524 |
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: ASD |
|
V1539 |
Small Variation |
MTR |
NM_000254.2:c.*905G>A |
NA: NA |
|
V1555 |
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: NA/LSOD/SD/PDA/other |
|
V1599 |
Small Variation |
NFATC1 |
NC_000018.10:g.79528806T>C |
isolated CHD/non-isolated CHD: NA |
|
V1612 |
Small Variation |
FGFR1 |
NC_000008.11:g.38411996T>C |
isolated CHD/non-isolated CHD: NA |
|
V1627 |
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD/non-isolated CHD: NA |
|
V1628 |
Small Variation |
NKX2-5 |
NM_004387.4:c.1433A>G |
isolated CHD/non-isolated CHD: NA |
|
V1648 |
Small Variation |
MTHFR |
NM_005957.5:c.2756A>G |
isolated CHD: NA |
|
V1654 |
Small Variation |
ISL1 |
NC_000005.10:g.51394149G>T |
isolated CHD: HLHS/AS/TOF/PA/AI/DCRV/VSD/ASD/AVSD/PFO/TA/SV/DORV/DOLV |
|
V1655 |
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: HLHS/AS/TOF/PA/AI/DCRV/VSD/ASD/AVSD/PFO/TA/SV/DORV/DOLV |
|
V1694 |
Small Variation |
RAF1 |
NC_000003.12:g.12582571C>T |
isolated CHD/non-isolated CHD: NA |
|
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 |
|
V1763 |
Small Variation |
NKX2-5 |
NM_004387.4:c.494C>T |
non-isolated CHD: HLHS, hypoplastic mitral and aortic valve, AS |
|
V2297 |
Small Variation |
MTR |
NM_000254.2:c.*1361A>G |
non-isolated CHD: TS, VSD |
|
V2328 |
Small Variation |
GATA4 |
NM_002052.5:c.*354A>C |
isolated CHD: VSD/TOF/PDA/ASD/PS/TGA/DORV/AVSD/ CoA/HLHS/BAV |
|
V2329 |
Small Variation |
GATA4 |
NM_002052.5:c.*426C>T |
isolated CHD: VSD/TOF/PDA/ASD/PS/TGA/DORV/AVSD/ CoA/HLHS/BAV |
|
V2330 |
Small Variation |
GATA4 |
NM_002052.5:c.*100G>A |
isolated CHD: VSD/TOF/PDA/ASD/PS/TGA/DORV/AVSD/ CoA/HLHS/BAV |
|
V2390 |
Small Variation |
TYMS |
NM_001071.4:c.*450_*455del |
NA: NA |