|
V0058 |
Small Variation |
HOXC4 |
NC_000012.12:g.54024359A>C |
isolated CHD: NA |
|
V0059 |
Small Variation |
HOXC4 |
NC_000012.12:g.54034748C>T |
isolated CHD: NA |
|
V0060 |
Small Variation |
HOXC4 |
NC_000012.12:g.54053018G>A |
isolated CHD: NA |
|
V0112 |
Small Variation |
GATA4 |
NM_002052.5:c.783+106G>A |
isolated CHD: NA |
|
V0113 |
Small Variation |
GATA4 |
NM_002052.5:c.784-16G>A |
isolated CHD: NA |
|
V0115 |
Small Variation |
GATA4 |
NM_002052.5:c.997+56C>A |
isolated CHD: NA |
|
V0116 |
Small Variation |
GATA4 |
NM_002052.5:c.998-115C>T |
isolated CHD: NA |
|
V0122 |
Small Variation |
CHD7 |
NM_017780.4:c.2699+34G>A |
NA: NA |
|
V0123 |
Small Variation |
CHD7 |
NM_017780.4:c.3272+39G>A |
NA: NA |
|
V0124 |
Small Variation |
CHD7 |
NM_017780.4:c.3991+127A>G |
NA: NA |
|
V0125 |
Small Variation |
CHD7 |
NM_017780.4:c.4235+21T>G |
NA: NA |
|
V0126 |
Small Variation |
CHD7 |
NM_017780.4:c.4236-5T>C |
NA: NA |
|
V0127 |
Small Variation |
CHD7 |
NM_017780.4:c.4557-35C>G |
NA: NA |
|
V0128 |
Small Variation |
CHD7 |
NM_017780.4:c5023+51C>A |
NA: NA |
|
V0156 |
Small Variation |
ALDH1A2 |
NC_000015.10:g.58014104G>A |
NA: NA |
|
V0157 |
Small Variation |
ALDH1A2 |
NM_003888.4:c.160-422G>A |
NA: NA |
|
V0158 |
Small Variation |
ALDH1A2 |
NM_003888.4:c.25-422G>C |
NA: NA |
|
V0159 |
Small Variation |
ALDH1A2 |
NM_003888.4:c.116+613G>T |
NA: NA |
|
V0160 |
Small Variation |
ALDH1A2 |
NM_003888.4:c.92+742_92+743InsA |
NA: NA |
|
V0161 |
Small Variation |
ALDH1A2 |
NC_000015.10:g.57965649C>T |
NA: NA |
|
V0185 |
Small Variation |
GATA6 |
NM_005257.5:c.222G>A |
NA: NA |
|
V0233 |
Small Variation |
GATA4 |
NM_002052.5:c.50745A>T |
isolated CHD: NA |
|
V0234 |
Small Variation |
GATA4 |
NM_002052.5:c.50946A>C |
isolated CHD: NA |
|
V0242 |
Small Variation |
NFATc1 |
NM_006162.5:c.1920+56_1920+99dup |
isolated CHD: Pm VSD |
|
V0243 |
Small Variation |
NFATc1 |
NM_006162.5:c.1920+56_1920+99dup |
isolated CHD: PS |
|
V0244 |
Small Variation |
NFATc1 |
NM_006162.5:c.1920+56_1920+99dup |
isolated CHD: CAVC |
|
V0245 |
Small Variation |
NFATc1 |
NM_006162.5:c.1920+56_1920+99dup |
isolated CHD: valvulo septal defects |
|
V0259 |
Small Variation |
MTRR |
NM_002454.3:c.56+781A>C |
isolated CHD: NA |
|
V0280 |
Small Variation |
GATA4 |
NM_002052.5:c.997+56C>A |
isolated CHD: HLHS |
|
V0281 |
Small Variation |
GATA4 |
NM_002052.5:c.997+321G>A |
isolated CHD: HLHS |
|
V0287 |
Small Variation |
GATA4 |
NM_002052.5:c.909+25G>A |
isolated CHD: HLHS |
|
V0288 |
Small Variation |
HAND1 |
NM_004821.3:c.543+30A>T |
isolated CHD: HLHS |
|
V0350 |
Small Variation |
TGFβ2 |
NC_000001.11:g.218347653A>G |
isolated CHD: ASD |
|
V0370 |
Small Variation |
GATA5 |
NC_000020.11:g.62475569G>A |
isolated CHD: BAV |
|
V0372 |
Small Variation |
GATA5 |
NC_000020.11:g.62466597G>C |
isolated CHD: BAV |
|
V0409 |
Small Variation |
GATA4 |
NM_002052.5:c.-156G>A |
isolated CHD: ASD |
|
V0411 |
Small Variation |
GATA4 |
NM_002052.5:c.-110A>G |
non-isolated CHD: PDA, VSD |
|
V0416 |
Small Variation |
GATA4 |
NM_002052.5:c.910-42G>A |
isolated CHD: TGA |
|
V0417 |
Small Variation |
GATA4 |
NM_002052.5:c.998-36C>T |
isolated CHD: ASD |
|
V0418 |
Small Variation |
GATA4 |
NM_002052.5:c.1146+25_1146+26insA |
isolated CHD: ASD |
|
V0429 |
Small Variation |
TFAP2B |
NM_003221.4:c.540+31_540+32insCAAA |
isolated CHD: ASD |
|
V0432 |
Small Variation |
TFAP2B |
NM_003221.4:c.821+86C>T |
isolated CHD: ASD |
|
V0443 |
Small Variation |
GDF1 |
NC_000019.10:g.18874034G>A |
isolated CHD: non-CTD |
|
V0445 |
Small Variation |
GDF1 |
NC_000019.10:g.18877857T>C |
isolated CHD: non-CTD |
|
V0447 |
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: non-CTD |
|
V0449 |
Small Variation |
GDF1 |
NC_000019.10:g.18879050G>A |
isolated CHD: non-CTD |
|
V0453 |
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
non-isolated CHD: PA, IVS |
|
V0458 |
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: AP window |
|
V0461 |
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: AVSD |
|
V0593 |
Small Variation |
MIR-34b/MIR34C |
NC_000011.10:g.111511840T>C |
isolated CHD: SD/PDA/other |
|
V0594 |
Small Variation |
MIR-34b/MIR34C |
NC_000011.10:g.111511840T>C |
non-isolated CHD: NA |
|
V0595 |
Small Variation |
MIR-34b/MIR34C |
NC_000011.10:g.111511840T>C |
NA: Septa and valve abnormalities |
|
V0596 |
Small Variation |
MIR-34b/MIR34C |
NC_000011.10:g.111511840T>C |
NA: other |
|
V0612 |
Small Variation |
NOTCH1 |
NG_007458.1,:g.30667C>T |
isolated CHD: HAA |
|
V0613 |
Small Variation |
NOTCH1 |
NG_007458.1,:g.38735C>T |
isolated CHD: LVOT |
|
V0614 |
Small Variation |
NOTCH1 |
NG_007458.1,:g.39335G>A |
isolated CHD: LVOT |
|
V0664 |
Small Variation |
CUBN |
NC_000010.11:g.17088694A>G |
NA: NA |
|
V0665 |
Small Variation |
CUBN |
NC_000010.11:g.17088694A>G |
NA: NA |
|
V0695 |
Small Variation |
NRP1 |
NC_000010.11:g.33195901G>A |
isolated CHD: ASD |
|
V0698 |
Small Variation |
NRP1 |
NC_000010.11:g.33195901G>A |
isolated CHD: ASD/VSD/TOF |
|
V0699 |
Small Variation |
RPH3A |
NC_000012.12:g.112602139C>T |
isolated CHD: ASD |
|
V0702 |
Small Variation |
RPH3A |
NC_000012.12:g.112602139C>T |
isolated CHD: ASD/VSD/TOF |
|
V0703 |
Small Variation |
GPC5 |
NC_000013.11:g.92342256C>A |
isolated CHD: ASD |
|
V0706 |
Small Variation |
GPC5 |
NC_000013.11:g.92342256C>A |
isolated CHD: ASD/VSD/TOF |
|
V0707 |
Small Variation |
FMN1 |
NC_000015.10:g.32800761G>A |
isolated CHD: ASD |
|
V0710 |
Small Variation |
FMN1 |
NC_000015.10:g.32800761G>A |
isolated CHD: ASD/VSD/TOF |
|
V0731 |
Small Variation |
GATA6 |
NC_000018.10:g.22172288C>G |
isolated CHD/non-isolated CHD: CTDs |
|
V0732 |
Small Variation |
GATA6 |
NM_005257.5:c.10501-60C>T |
isolated CHD/non-isolated CHD: CTDs |
|
V0733 |
Small Variation |
GATA6 |
NM_005257.5:c.10501-85T>C |
isolated CHD/non-isolated CHD: CTDs |
|
V0734 |
Small Variation |
GATA6 |
NM_005257.5:c.16589+6T>C |
isolated CHD/non-isolated CHD: CTDs |
|
V0735 |
Small Variation |
GATA6 |
NM_005257.5:c.16589+7A>G |
isolated CHD/non-isolated CHD: CTDs |
|
V0738 |
Small Variation |
NOS3 |
NM_000603.5:c.-51-762C>T |
NA: NA |
|
V0739 |
Small Variation |
NOS3 |
NM_000603.5:c.3106+11G>T |
NA: NA |
|
V0741 |
Small Variation |
NOS3 |
NM_000603.5:c.3106+11G>T |
isolated CHD: Pm VSD |
|
V0742 |
Small Variation |
NOS3 |
NM_000603.5:c.3106+11G>T |
isolated CHD: ASD |
|
V0749 |
Small Variation |
BMP4 |
NC_000014.9:g.53951693G>A |
isolated CHD: ASD |
|
V0751 |
Small Variation |
BMP4 |
NC_000014.9:g.53956335A>C |
isolated CHD: ASD |
|
V0755 |
Small Variation |
BMP4 |
NC_000014.9:g.53951693G>A |
isolated CHD: VSD/ASD |
|
V0756 |
Small Variation |
BMP4 |
NC_000014.9:g.53956335A>C |
isolated CHD: VSD/ASD |
|
V0818 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: ASD |
|
V0821 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: other |
|
V0822 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: ASD/VSD/ASD, VSD |
|
V0824 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4646320C>T |
isolated CHD: ASD |
|
V0828 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: ASD |
|
V0832 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4612553C>T |
isolated CHD: ASD |
|
V0941 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4646320C>T |
isolated CHD: ASD |
|
V0942 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: ASD |
|
V0943 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4612553C>T |
isolated CHD: ASD |
|
V0957 |
Small Variation |
GATA4 |
NM_002052.5:c.-458+5G>A |
isolated CHD: ASD |
|
V0960 |
Small Variation |
GATA4 |
NM_002052.5:c.-458+5G>A |
isolated CHD: SV |
|
V0965 |
Small Variation |
GATA4 |
NM_002052.5:c.997+56C>A |
isolated CHD: ASD |
|
V0968 |
Small Variation |
GATA4 |
NM_002052.5:c.997+56C>A |
isolated CHD: SV |
|
V0969 |
Small Variation |
GATA4 |
NM_002052.5:c.998-332T>G |
isolated CHD: ASD |
|
V0972 |
Small Variation |
GATA4 |
NM_002052.5:c.998-332T>G |
isolated CHD: SV |
|
V0973 |
Small Variation |
GATA4 |
NM_002052.5:c.998-269G>T |
isolated CHD: ASD |
|
V0976 |
Small Variation |
GATA4 |
NM_002052.5:c.998-269G>T |
isolated CHD: SV |
|
V0977 |
Small Variation |
GATA4 |
NM_002052.5:c.998-219G>T |
isolated CHD: ASD |
|
V0980 |
Small Variation |
GATA4 |
NM_002052.5:c.998-219G>T |
isolated CHD: SV |
|
V0981 |
Small Variation |
GATA4 |
NM_002052.5:c.998-180delA |
isolated CHD: ASD |
|
V0984 |
Small Variation |
GATA4 |
NM_002052.5:c.998-180delA |
isolated CHD: SV |
|
V0985 |
Small Variation |
GATA4 |
NM_002052.5:c.998-128T>C |
isolated CHD: ASD |
|
V0988 |
Small Variation |
GATA4 |
NM_002052.5:c.998-128T>C |
isolated CHD: SV |
|
V0989 |
Small Variation |
GATA4 |
NM_002052.5:c.998-115C>T |
isolated CHD: ASD |
|
V0992 |
Small Variation |
GATA4 |
NM_002052.5:c.998-115C>T |
isolated CHD: SV |
|
V0993 |
Small Variation |
GATA4 |
NM_002052.5:c.998-107T>C |
isolated CHD: ASD |
|
V0996 |
Small Variation |
GATA4 |
NM_002052.5:c.998-107T>C |
isolated CHD: SV |
|
V0997 |
Small Variation |
GATA4 |
NC_000008.11:g.11758186A>G |
isolated CHD: ASD |
|
V1000 |
Small Variation |
GATA4 |
NC_000008.11:g.11758186A>G |
isolated CHD: SV |
|
V1164 |
Small Variation |
MYH7B |
NM_020884.5:c.218-71T>G |
isolated CHD: AS/ CoA/BAV/VSD/IAA/HLHS |
|
V1165 |
Small Variation |
MYH7B |
NM_020884.5:c.2103+138A>G |
isolated CHD: AS/ CoA/BAV/VSD/IAA/HLHS |
|
V1166 |
Small Variation |
TRPC4AP |
NM_015638.3:c.1218+1442G>A |
isolated CHD: AS/ CoA/BAV/VSD/IAA/HLHS |
|
V1167 |
Small Variation |
TRPC4AP |
NM_015638.3:c.866-590G>T |
isolated CHD: AS/ CoA/BAV/VSD/IAA/HLHS |
|
V1168 |
Small Variation |
TRPC4AP |
NM_015638.3:c.658-1243G>A |
isolated CHD: AS/ CoA/BAV/VSD/IAA/HLHS |
|
V1169 |
Small Variation |
TRPC4AP |
NM_015638.3:c.168+4368A>T |
isolated CHD: AS/ CoA/BAV/VSD/IAA/HLHS |
|
V1171 |
Small Variation |
EDEM2 |
NM_018217.3:c.259-106G>A |
isolated CHD: AS/ CoA/BAV/VSD/IAA/HLHS |
|
V1176 |
Small Variation |
MMP24-AS1-EDEM2 |
NC_000020.11:g.35193167T>C |
isolated CHD: AS/ CoA/BAV/VSD/IAA/HLHS |
|
V1185 |
Small Variation |
BMPR2 |
NM_001204.7:c.529+13A>C |
isolated CHD/non-isolated CHD: NA |
|
V1231 |
Small Variation |
ZNRD1 |
NC_000006.12:g.30060575G>A |
isolated CHD/non-isolated CHD: NA |
|
V1234 |
Small Variation |
ZNRD1 |
NC_000006.12:g.30044563G>A |
isolated CHD/non-isolated CHD: NA |
|
V1237 |
Small Variation |
ZNRD1 |
NC_000006.12:g.30037466A>G |
isolated CHD/non-isolated CHD: NA |
|
V1259 |
Small Variation |
GART |
NM_032195.2:c.77+1138T>C |
NA: NA |
|
V1260 |
Small Variation |
GART |
NM_000819.5:c.1298+114G>C |
NA: NA |
|
V1261 |
Small Variation |
GART |
NM_032195.2:c.77+1138T>C |
isolated CHD: SD |
|
V1262 |
Small Variation |
GART |
NM_032195.2:c.77+1138T>C |
NA: NA |
|
V1263 |
Small Variation |
GART |
NM_000819.5:c.1298+114G>C |
isolated CHD: SD |
|
V1264 |
Small Variation |
GART |
NM_000819.5:c.1298+114G>C |
NA: NA |
|
V1269 |
Small Variation |
MIR196A2 |
NC_000012.12:g.53991815C>T |
isolated CHD: ASD |
|
V1278 |
Small Variation |
MIR196A2 |
NC_000012.12:g.53991815C>T |
isolated CHD: NA |
|
V1283 |
Small Variation |
STX18 |
NC_000004.12:g.4523099T>C |
isolated CHD: NA |
|
V1285 |
Small Variation |
STX18 |
NC_000004.12:g.4523099T>C |
isolated CHD: ASD |
|
V1286 |
Small Variation |
STX18 |
NC_000004.12:g.4524521A>G |
isolated CHD: NA |
|
V1288 |
Small Variation |
STX18 |
NC_000004.12:g.4524521A>G |
isolated CHD: ASD |
|
V1352 |
Small Variation |
GATA4 |
NM_001308093.1:c.997+56C>A |
isolated CHD: DORV |
|
V1353 |
Small Variation |
GATA4 |
NM_001308093.1:c.997+56C>A |
non-isolated CHD: PA, IVS |
|
V1354 |
Small Variation |
GATA4 |
NM_001308093.1:c.997+56C>A |
isolated CHD: PTA |
|
V1355 |
Small Variation |
GATA4 |
NM_001308093.1:c.997+56C>A |
non-isolated CHD: PA, VSD |
|
V1356 |
Small Variation |
GATA4 |
NM_001308093.1:c.997+56C>A |
isolated CHD: TGA |
|
V1358 |
Small Variation |
GATA4 |
NM_001308093.1:c.910-58T>A |
isolated CHD: DORV |
|
V1359 |
Small Variation |
GATA4 |
NM_001308093.1:c.910-58T>A |
non-isolated CHD: SA, SV |
|
V1360 |
Small Variation |
GATA4 |
NM_001308093.1:c.910-58T>A |
isolated CHD: PTA |
|
V1361 |
Small Variation |
GATA4 |
NM_001308093.1:c.910-58T>A |
non-isolated CHD: PA, VSD |
|
V1362 |
Small Variation |
GATA4 |
NM_001308093.1:c.910-58T>A |
isolated CHD: TGA |
|
V1364 |
Small Variation |
GATA4 |
NM_001308093.1:c.617-64G>C |
non-isolated CHD: PA, VSD |
|
V1366 |
Small Variation |
GATA4 |
NM_001308093.1:c.1146+23_1146+24insA |
non-isolated CHD: SA, SV |
|
V1367 |
Small Variation |
GATA4 |
NM_001308093.1:c.1146+23_1146+24insA |
non-isolated CHD: PA, VSD |
|
V1368 |
Small Variation |
GATA4 |
NM_001308093.1:c.1146+23_1146+24insA |
isolated CHD: TGA |
|
V1370 |
Small Variation |
GATA4 |
NC_000008.11:g.11750095G>A |
isolated CHD: DORV |
|
V1371 |
Small Variation |
GATA4 |
NC_000008.11:g.11750095G>A |
non-isolated CHD: PA, VSD |
|
V1372 |
Small Variation |
GATA4 |
NM_001308093.1:c.1146+6C>T |
isolated CHD: DORV |
|
V1392 |
Small Variation |
MKRN2 |
NC_000007.14:g.12575034G>A |
isolated CHD/non-isolated CHD: NA |
|
V1393 |
Small Variation |
TBX20 |
NC_000007.14:g.35233679T>C |
isolated CHD/non-isolated CHD: NA |
|
V1394 |
Small Variation |
TBX20 |
NC_000007.14:g.35248664T>C |
isolated CHD/non-isolated CHD: NA |
|
V1396 |
Small Variation |
BRAF |
NC_000007.14:g.140786488C>T |
isolated CHD/non-isolated CHD: NA |
|
V1397 |
Small Variation |
BRAF |
NC_000007.14:g.140858940G>C |
isolated CHD/non-isolated CHD: NA |
|
V1398 |
Small Variation |
MAP2K2 |
NC_000019.10:g.4094777G>A |
isolated CHD/non-isolated CHD: NA |
|
V1399 |
Small Variation |
MAP2K2 |
NC_000019.10:g.4098949G>A |
isolated CHD/non-isolated CHD: NA |
|
V1400 |
Small Variation |
MAP2K2 |
NC_000019.10:g.4115995G>A |
isolated CHD/non-isolated CHD: NA |
|
V1401 |
Small Variation |
MAP2K2 |
NC_000019.10:g.4118873T>C |
isolated CHD/non-isolated CHD: NA |
|
V1402 |
Small Variation |
RAF1 |
NC_000003.12:g.12575034G>A |
isolated CHD/non-isolated CHD: NA |
|
V1403 |
Small Variation |
TBX20 |
NC_000007.14:g.35233679T>C |
isolated CHD/non-isolated CHD: NA |
|
V1404 |
Small Variation |
TBX20 |
NC_000007.14:g.35248664T>C |
isolated CHD/non-isolated CHD: NA |
|
V1406 |
Small Variation |
BRAF |
NC_000007.14:g.140786488C>T |
isolated CHD/non-isolated CHD: NA |
|
V1407 |
Small Variation |
BRAF |
NC_000007.14:g.140858940G>C |
isolated CHD/non-isolated CHD: NA |
|
V1408 |
Small Variation |
MAP2K2 |
NC_000019.10:g.4094777G>A |
isolated CHD/non-isolated CHD: NA |
|
V1409 |
Small Variation |
MAP2K2 |
NC_000019.10:g.4098949G>A |
isolated CHD/non-isolated CHD: NA |
|
V1410 |
Small Variation |
MAP2K2 |
NC_000019.10:g.4115995G>A |
isolated CHD/non-isolated CHD: NA |
|
V1411 |
Small Variation |
MAP2K2 |
NC_000019.10:g.4118873T>C |
isolated CHD/non-isolated CHD: NA |
|
V1412 |
Small Variation |
RAF1 |
NC_000003.12:g.12575034G>A |
isolated CHD/non-isolated CHD: NA |
|
V1413 |
Small Variation |
TBX20 |
NC_000007.14:g.35233679T>C |
isolated CHD/non-isolated CHD: NA |
|
V1414 |
Small Variation |
TBX20 |
NC_000007.14:g.35248664T>C |
isolated CHD/non-isolated CHD: NA |
|
V1416 |
Small Variation |
BRAF |
NC_000007.14:g.140786488C>T |
isolated CHD/non-isolated CHD: NA |
|
V1417 |
Small Variation |
BRAF |
NC_000007.14:g.140858940G>C |
isolated CHD/non-isolated CHD: NA |
|
V1418 |
Small Variation |
MAP2K2 |
NC_000019.10:g.4094777G>A |
isolated CHD/non-isolated CHD: NA |
|
V1419 |
Small Variation |
MAP2K2 |
NC_000019.10:g.4098949G>A |
isolated CHD/non-isolated CHD: NA |
|
V1420 |
Small Variation |
MAP2K2 |
NC_000019.10:g.4115995G>A |
isolated CHD/non-isolated CHD: NA |
|
V1421 |
Small Variation |
MAP2K2 |
NC_000019.10:g.4118873T>C |
isolated CHD/non-isolated CHD: NA |
|
V1430 |
Small Variation |
FIGN |
NC_000002.12:g.163641436C>G |
NA: NA |
|
V1433 |
Small Variation |
FIGN |
NC_000002.12:g.163641436C>G |
isolated CHD: ASD |
|
V1504 |
Small Variation |
NOS3 |
NM_000603.5:c.-51-762C>T |
NA: NA |
|
V1505 |
Small Variation |
NOS3 |
NM_000603.5:c.3106+11G>T |
NA: NA |
|
V1506 |
Small Variation |
ISL1 |
NC_000005.10:g.51379463C>T |
NA: NA |
|
V1508 |
Small Variation |
ISL1 |
NC_000005.10:g.51379463C>T |
isolated CHD: ASD |
|
V1509 |
Small Variation |
ISL1 |
NC_000005.10:g.51383716C>T |
NA: NA |
|
V1511 |
Small Variation |
ISL1 |
NC_000005.10:g.51383716C>T |
isolated CHD: ASD |
|
V1534 |
Small Variation |
CUBN |
NC_000010.11:g.17088694A>G |
NA: NA |
|
V1541 |
Small Variation |
GDF1 |
NC_000019.10:g.18874034G>A |
isolated CHD: non-CTD |
|
V1543 |
Small Variation |
GDF1 |
NC_000019.10:g.18877857T>C |
isolated CHD: non-CTD |
|
V1545 |
Small Variation |
GDF1 |
NC_000019.10:g.18877857T>C |
isolated CHD: non-CTD |
|
V1547 |
Small Variation |
GDF1 |
NC_000019.10:g.18874034G>A |
isolated CHD: non-CTD |
|
V1558 |
Small Variation |
MTRR |
NM_002454.3:c.56+781A>C |
isolated CHD: NA |
|
V1561 |
Small Variation |
NFATc1 |
NM_006162.5:c.1920+56_1920+99dup |
isolated CHD: Pm VSD |
|
V1562 |
Small Variation |
NFATc1 |
NM_006162.5:c.1920+56_1920+99dup |
isolated CHD: PS |
|
V1563 |
Small Variation |
NFATc1 |
NM_006162.5:c.1920+56_1920+99dup |
isolated CHD: CAVC |
|
V1564 |
Small Variation |
NFATc1 |
NM_006162.5:c.1920+56_1920+99dup |
isolated CHD: valvulo septal defects |
|
V1588 |
Small Variation |
STX18 |
NC_000004.12:g.4523099T>C |
isolated CHD: NA |
|
V1590 |
Small Variation |
STX18 |
NC_000004.12:g.4523099T>C |
isolated CHD: ASD |
|
V1591 |
Small Variation |
STX18 |
NC_000004.12:g.4524521A>G |
isolated CHD: NA |
|
V1593 |
Small Variation |
STX18 |
NC_000004.12:g.4524521A>G |
isolated CHD: ASD |
|
V1595 |
Small Variation |
ZNRD1 |
NC_000006.12:g.30060575G>A |
isolated CHD/non-isolated CHD: NA |
|
V1598 |
Small Variation |
ZNRD1 |
NC_000006.12:g.30044563G>A |
isolated CHD/non-isolated CHD: NA |
|
V1601 |
Small Variation |
ZNRD1 |
NC_000006.12:g.30037466A>G |
isolated CHD/non-isolated CHD: NA |
|
V1639 |
Small Variation |
HOXC4 |
NC_000012.12:g.54024359A>C |
isolated CHD: NA |
|
V1640 |
Small Variation |
HOXC4 |
NC_000012.12:g.54034748C>T |
isolated CHD: NA |
|
V1641 |
Small Variation |
HOXC4 |
NC_000012.12:g.54053018G>A |
isolated CHD: NA |
|
V1651 |
Small Variation |
MIR34B |
NC_000011.10:g.111511840T>C |
isolated CHD: SD/PDA/other |
|
V1652 |
Small Variation |
MIR34B |
NC_000011.10:g.111511840T>C |
non-isolated CHD: NA |
|
V1671 |
Small Variation |
TGFβ2 |
NC_000001.11:g.218347653A>G |
isolated CHD: ASD |
|
V1681 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4646320C>T |
isolated CHD: ASD |
|
V1682 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: ASD |
|
V1683 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4612553C>T |
isolated CHD: ASD |
|
V1692 |
Small Variation |
FIGN |
NC_000002.12:g.163641436C>G |
NA: NA |
|
V1693 |
Small Variation |
RAF1 |
NC_000003.12:g.12575034G>A |
isolated CHD/non-isolated CHD: NA |
|
V1695 |
Small Variation |
RAF1 |
NC_000003.12:g.12594756T>G |
isolated CHD/non-isolated CHD: NA |
|
V1696 |
Small Variation |
TBX20 |
NC_000007.14:g.35182774C>T |
isolated CHD/non-isolated CHD: NA |
|
V1697 |
Small Variation |
TBX20 |
NC_000007.14:g.35233679T>C |
isolated CHD/non-isolated CHD: NA |
|
V1698 |
Small Variation |
TBX20 |
NC_000007.14:g.35241620A>C |
isolated CHD/non-isolated CHD: NA |
|
V1699 |
Small Variation |
TBX20 |
NC_000007.14:g.35248664T>C |
isolated CHD/non-isolated CHD: NA |
|
V1703 |
Small Variation |
BRAF |
NC_000007.14:g.140786488C>T |
isolated CHD/non-isolated CHD: NA |
|
V1704 |
Small Variation |
BRAF |
NC_000007.14:g.140800651T>A |
isolated CHD/non-isolated CHD: NA |
|
V1705 |
Small Variation |
BRAF |
NC_000007.14:g.140805389C>T |
isolated CHD/non-isolated CHD: NA |
|
V1706 |
Small Variation |
BRAF |
NC_000007.14:g.140847986A>C |
isolated CHD/non-isolated CHD: NA |
|
V1707 |
Small Variation |
BRAF |
NC_000007.14:g.140858940G>C |
isolated CHD/non-isolated CHD: NA |
|
V1708 |
Small Variation |
BRAF |
NC_000007.14:g.140914412A>T |
isolated CHD/non-isolated CHD: NA |
|
V1709 |
Small Variation |
MAP2K2 |
NC_000019.10:g.4094777G>A |
isolated CHD/non-isolated CHD: NA |
|
V1710 |
Small Variation |
MAP2K2 |
NC_000019.10:g.4098949G>A |
isolated CHD/non-isolated CHD: NA |
|
V1711 |
Small Variation |
MAP2K2 |
NC_000019.10:g.4100662G>A |
isolated CHD/non-isolated CHD: NA |
|
V1712 |
Small Variation |
MAP2K2 |
NC_000019.10:g.4115995G>A |
isolated CHD/non-isolated CHD: NA |
|
V1713 |
Small Variation |
MAP2K2 |
NC_000019.10:g.4118873T>C |
isolated CHD/non-isolated CHD: NA |
|
V1715 |
Small Variation |
MIR196A2 |
NC_000012.12:g.53991815C>T |
isolated CHD: ASD |
|
V1724 |
Small Variation |
MIR196A2 |
NC_000012.12:g.53991815C>T |
isolated CHD: NA |
|
V1746 |
Small Variation |
ZW10 |
NM_004724.4:c.105+1291C>T |
isolated CHD: ASD/VSD/PDA/TOF/other |
|
V1747 |
Small Variation |
ZW10 |
NM_004724.4:c.105+1291C>T |
isolated CHD: ASD |
|
V1749 |
Small Variation |
ZW10 |
NM_004724.4:c.1089+43T>A |
isolated CHD: ASD/VSD/PDA/TOF/other |
|
V1750 |
Small Variation |
ZW10 |
NM_004724.4:c.1089+43T>A |
isolated CHD: ASD |
|
V2298 |
Small Variation |
TBX1 |
NM_005992.1:c.1010-5255G>C |
isolated CHD/non-isolated CHD: NA |
|
V2301 |
Small Variation |
GATA4 |
NM_002052.5:c.617-5353G>A |
isolated CHD/non-isolated CHD: NA |
|
V2302 |
Small Variation |
GATA4 |
NM_002052.5:c.617-17947C>T |
isolated CHD/non-isolated CHD: NA |
|
V2303 |
Small Variation |
FGF10 |
NC_000005.10:g.44359372T>C |
isolated CHD/non-isolated CHD: NA |
|
V2304 |
Small Variation |
FGF10 |
NC_000005.10:g.44358676C>T |
isolated CHD/non-isolated CHD: NA |
|
V2305 |
Small Variation |
FGF10 |
NC_000005.10:g.44312660G>A |
isolated CHD/non-isolated CHD: NA |
|
V2306 |
Small Variation |
FGF10 |
NC_000005.10:g.44342070A>G |
isolated CHD/non-isolated CHD: NA |
|
V2307 |
Small Variation |
FGF10 |
NC_000005.10:g.44320867G>A |
isolated CHD/non-isolated CHD: NA |
|
V2308 |
Small Variation |
TBX1 |
NM_005992.1:c.1010-5255G>C |
isolated CHD: VSD/ASD/PDA |
|
V2309 |
Small Variation |
TBX1 |
NM_005992.1:c.1010-5255G>C |
isolated CHD: VSD/ASD/PDA |
|
V2311 |
Small Variation |
TBX1 |
NM_005992.1:c.1010-5255G>C |
non-isolated CHD: PA, VSD/PS, VSD |
|
V2312 |
Small Variation |
TBX1 |
NM_005992.1:c.1010-5255G>C |
isolated CHD: RVOTO |
|
V2316 |
Small Variation |
FGF10 |
NC_000005.10:g.44359372T>C |
non-isolated CHD: PA, VSD/PS, VSD |
|
V2317 |
Small Variation |
GATA4 |
NM_002052.5:c.617-5353G>A |
non-isolated CHD: PA, VSD/PS, VSD |
|
V2321 |
Small Variation |
GATA4 |
NM_002052.5:c.783+454G>A |
isolated CHD: VSD/TOF/PDA/ASD/PS/TGA/DORV/AVSD/ CoA/HLHS/BAV |
|
V2322 |
Small Variation |
GATA4 |
NM_002052.5:c.909+20A>G |
isolated CHD: VSD/TOF/PDA/ASD/PS/TGA/DORV/AVSD/ CoA/HLHS/BAV |
|
V2323 |
Small Variation |
GATA4 |
NM_002052.5:c.997+56C>A |
isolated CHD: VSD/TOF/PDA/ASD/PS/TGA/DORV/AVSD/ CoA/HLHS/BAV |
|
V2324 |
Small Variation |
GATA4 |
NM_002052.5:c.997+287A>C |
isolated CHD: VSD/TOF/PDA/ASD/PS/TGA/DORV/AVSD/ CoA/HLHS/BAV |
|
V2325 |
Small Variation |
GATA4 |
NM_002052.5:c.997+200G>A |
isolated CHD: VSD/TOF/PDA/ASD/PS/TGA/DORV/AVSD/ CoA/HLHS/BAV |