|
V0022 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: HLHS |
|
V0177 |
Small Variation |
NKX2-5 |
NM_004387.4:c.73C>T |
isolated CHD: HLHS |
|
V0274 |
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD: HLHS |
|
V0275 |
Small Variation |
GATA4 |
NM_002052.5:c.997+56C>A |
isolated CHD: HLHS |
|
V0278 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: HLHS |
|
V0279 |
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD: HLHS |
|
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 |
|
V0282 |
Small Variation |
HAND1 |
NM_004821.3:c.468T>G |
isolated CHD: HLHS |
|
V0283 |
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD: HLHS |
|
V0284 |
Small Variation |
HAND1 |
NM_004821.3:c.162G>A |
isolated CHD: HLHS |
|
V0285 |
Small Variation |
HAND1 |
NM_004821.3:c.531G>C |
isolated CHD: HLHS |
|
V0286 |
Small Variation |
GATA4 |
NM_002052.5:c.1113A>G |
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 |
|
V0469 |
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: HLHS |
|
V0866 |
Small Variation |
Increased homozygosity |
NA |
isolated CHD: HLHS |
|
V1051 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: HLHS |
|
V1151 |
Small Variation |
NOTCH1 |
NM_017617.5:N/A(del 9q34.3) |
isolated CHD: HLHS |
|
V1152 |
Small Variation |
NOTCH1 |
NM_017617.5:c.3054C>A |
isolated CHD: HLHS |
|
V1440 |
Small Variation |
BMP2 |
NM_001200.4:c.109T>G |
isolated CHD: HLHS |
|
V1441 |
Small Variation |
IRX4 |
NM_016358.3:c.355G>A |
isolated CHD: HLHS |
|
V1442 |
Small Variation |
IRX4 |
NM_016358.3:c.90A>C |
isolated CHD: HLHS |
|
V1443 |
Small Variation |
JAG1 |
NM_000214.3:c.3528C>T |
isolated CHD: HLHS |
|
V1444 |
Small Variation |
JAG1 |
NM_000214.3:c.3417T>C |
isolated CHD: HLHS |
|
V1445 |
Small Variation |
JAG1 |
NM_000214.3:c.2214A>C |
isolated CHD: HLHS |
|
V1446 |
Small Variation |
JAG1 |
NM_000214.3:c.924C>T |
isolated CHD: HLHS |
|
V1447 |
Small Variation |
JAG1 |
NM_000214.3:c.765C>T |
isolated CHD: HLHS |
|
V1448 |
Small Variation |
JAG1 |
NM_000214.3:c.744A>G |
isolated CHD: HLHS |
|
V1449 |
Small Variation |
JAG1 |
NM_000214.3:c.267G>A |
isolated CHD: HLHS |
|
V1450 |
Small Variation |
KMT2D |
NM_003482.3:c.13689C>T |
isolated CHD: HLHS |
|
V1451 |
Small Variation |
BMP2 |
NM_001200.4:c.261A>G |
isolated CHD: HLHS |
|
V1452 |
Small Variation |
KMT2D |
NM_003482.3:c.12510A>G |
isolated CHD: HLHS |
|
V1453 |
Small Variation |
KMT2D |
NM_003482.3:c.10836G>A |
isolated CHD: HLHS |
|
V1454 |
Small Variation |
KMT2D |
NM_003482.3:c.9729C>T |
isolated CHD: HLHS |
|
V1455 |
Small Variation |
KMT2D |
NM_003482.3:c.7479G>T |
isolated CHD: HLHS |
|
V1456 |
Small Variation |
KMT2D |
NM_003482.3:c.2826C>T |
isolated CHD: HLHS |
|
V1457 |
Small Variation |
KMT2D |
NM_003482.3:c.2438C>T |
isolated CHD: HLHS |
|
V1458 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: HLHS |
|
V1459 |
Small Variation |
NOTCH1 |
NM_017617.5:c.6555C>T |
isolated CHD: HLHS |
|
V1460 |
Small Variation |
NOTCH1 |
NM_017617.5:c.5853C>T |
isolated CHD: HLHS |
|
V1461 |
Small Variation |
NOTCH1 |
NM_017617.5:c.5094C>T |
isolated CHD: HLHS |
|
V1462 |
Small Variation |
BMP2 |
NM_001200.4:c.570A>T |
isolated CHD: HLHS |
|
V1463 |
Small Variation |
NOTCH1 |
NM_017617.5:c.4662C>A |
isolated CHD: HLHS |
|
V1464 |
Small Variation |
NOTCH1 |
NM_017617.5:c.2265T>C |
isolated CHD: HLHS |
|
V1465 |
Small Variation |
NOTCH1 |
NM_017617.5:c.312T>C |
isolated CHD: HLHS |
|
V1466 |
Small Variation |
NOTCH2 |
NM_024408.4:c.7341T>A |
isolated CHD: HLHS |
|
V1467 |
Small Variation |
NOTCH2 |
NM_024408.4:c.61G>A |
isolated CHD: HLHS |
|
V1468 |
Small Variation |
NOTCH2 |
NM_024408.4:c.57C>G |
isolated CHD: HLHS |
|
V1469 |
Small Variation |
PTCH1 |
NM_000264.5:c.3944C>T |
isolated CHD: HLHS |
|
V1470 |
Small Variation |
PTCH1 |
NM_000264.5:c.3531C>T |
isolated CHD: HLHS |
|
V1471 |
Small Variation |
PTCH1 |
NM_000264.5:c.1686C>T |
isolated CHD: HLHS |
|
V1472 |
Small Variation |
PTCH1 |
NM_000264.5:c.1665T>C |
isolated CHD: HLHS |
|
V1473 |
Small Variation |
HEY2 |
XM_017010627.1:c.450G>C |
isolated CHD: HLHS |
|
V1474 |
Small Variation |
TBX2 |
NM_005994.4:c.366C>A |
isolated CHD: HLHS |
|
V1475 |
Small Variation |
TBX2 |
NM_005994.4:c.1827C>T |
isolated CHD: HLHS |
|
V1476 |
Small Variation |
HUWE1 |
NM_031407.7:c.12177T>C |
isolated CHD: HLHS |
|
V1477 |
Small Variation |
HUWE1 |
NC_000023.11:g.53614786T>C |
isolated CHD: HLHS |
|
V1478 |
Small Variation |
IRX4 |
NM_016358.3:c.1431C>T |
isolated CHD: HLHS |
|
V1479 |
Small Variation |
IRX4 |
NM_016358.3:c.1203G>A |
isolated CHD: HLHS |
|
V1480 |
Small Variation |
IRX4 |
NM_016358.3:c.381A>G |
isolated CHD: HLHS |
|
V1755 |
Small Variation |
FOXL1 |
NM_005250.3:c.926A>G |
isolated CHD: HLHS |
|
V2293 |
Small Variation |
KMT2D |
NM_003482.3:c.11093dup |
isolated CHD: HLHS |
|
V2488 |
Small Variation |
FOXC2 |
NC_000016.10:g.86566824C>G |
isolated CHD: HLHS |
|
V2490 |
Small Variation |
TBX20 |
NC_000007.14:g.35236224C>G |
isolated CHD: HLHS |
|
C0163 |
CNV |
NA |
NA |
isolated CHD: HLHS |
|
C0193 |
CNV |
JUN |
chr1: g.59247993_59251097del |
isolated CHD: HLHS |
|
C0207 |
CNV |
KRT6C |
|
isolated CHD: HLHS |
|
C0223 |
CNV |
APOL5, APOL6, RBFOX2 |
|
isolated CHD: HLHS |
|
C0225 |
CNV |
OR2T10, OR2T11 |
|
isolated CHD: HLHS |
|
C0227 |
CNV |
MAP4K4 |
NA |
isolated CHD: HLHS |
|
C0228 |
CNV |
ZEB2 |
|
isolated CHD: HLHS |
|
C0230 |
CNV |
CDC25A, DHX30, MAP4, SMARCC1 |
|
isolated CHD: HLHS |
|
C0232 |
CNV |
NA |
NA |
isolated CHD: HLHS |
|
C0233 |
CNV |
NA |
NA |
isolated CHD: HLHS |
|
C0234 |
CNV |
NA |
NA |
isolated CHD: HLHS |
|
C0235 |
CNV |
NA |
NA |
isolated CHD: HLHS |
|
C0236 |
CNV |
NA |
NA |
isolated CHD: HLHS |
|
C0237 |
CNV |
NA |
NA |
isolated CHD: HLHS |
|
C0585 |
CNV |
C1orf101, DESI2 |
GRCh37 chr1: g.244744915_244828276del |
isolated CHD: HLHS |