|
V0023 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: CoA |
|
V0611 |
Small Variation |
NOTCH1 |
NM_017617.5:c.(3836G>A) |
isolated CHD: CoA |
|
V1203 |
Small Variation |
GATA5 |
NM_080473.5:c.698T>C |
isolated CHD: CoA |
|
V1772 |
Small Variation |
NOTCH1 |
NM_017617.5:c.5011G>A |
isolated CHD: CoA |
|
C0160 |
CNV |
NA |
NA |
isolated CHD: CoA |
|
C0244 |
CNV |
NA |
NA |
isolated CHD: CoA |
|
C0260 |
CNV |
NA |
NA |
isolated CHD: CoA |
|
C0269 |
CNV |
PLB1, PPP1CB, SPDYA, TRMT61B,
WDR43, FAM179A, C2orf71, CLIP4 |
chr2: g.28796008_29320823dup |
isolated CHD: CoA |
|
C0270 |
CNV |
LMO7 |
chr13: g.76391357_76408458del |
isolated CHD: CoA |
|
C0271 |
CNV |
MAFF, TMEM184B |
chr22: g.38609792_38627292dup |
isolated CHD: CoA |
|
C0272 |
CNV |
RASA2 |
chr3: g.141272742_141385600del |
isolated CHD: CoA |
|
C0273 |
CNV |
PDE8A |
chr15: g.85606120_85682231dup |
isolated CHD: CoA |
|
C0274 |
CNV |
GLIS3, GLIS3-AS1 |
chr9: g.3781683_4161396dup |
isolated CHD: CoA |
|
C0275 |
CNV |
PDCD1LG2, KIAA1432 |
chr9: g.5534835_5765850dup |
isolated CHD: CoA |
|
C0283 |
CNV |
MAD1L1, FTSJ2 |
chr7: g.2255641_2275168del |
isolated CHD: CoA |
|
C0296 |
CNV |
CNNM2, NT5C2 |
chr10: g.104828409_104857092del |
isolated CHD: CoA |
|
C0307 |
CNV |
CDK13 |
chr7: g.40027276_40136317dup |
isolated CHD: CoA |
|
C0318 |
CNV |
NUP160, PTPRJ, OR4B1, OR4X2, OR4X1, OR4S1, OR4C3 |
chr11: g.47870014_48347382dup |
isolated CHD: CoA |
|
C0329 |
CNV |
NFATC3, ESRP2, MIR6773, PLA2G15 |
chr16: g.68170552_68294429dup |
isolated CHD: CoA |
|
C0337 |
CNV |
MGAM |
chr7: g.141705389_141740593del |
isolated CHD: CoA |
|
C0338 |
CNV |
SDC1, PUM2 |
chr2: g.20403619_20451508dup |
isolated CHD: CoA |
|
C0339 |
CNV |
FAM73A, NEXN-AS1, NEXN |
chr1: g.78308983_78384008dup |
isolated CHD: CoA |
|
C0503 |
CNV |
NA |
NA |
isolated CHD: CoA |
|
O0001 |
Others |
chr 21
|
trisomy 21(mosaic)
|
isolated CHD: CoA |